Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> MUC16

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8949048:8949048(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.27722T>A
AA Mutation p.Val9241Asp(p.V9241D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8980397:8980397(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.742T>A
AA Mutation p.Ser248Thr(p.S248T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8965879:8965879(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.10891C>A
AA Mutation p.Pro3631Thr(p.P3631T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8895005:8895005(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs543370542
CDS Mutation c.39725G>A
AA Mutation p.Arg13242His(p.R13242H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8948233:8948233(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.28537C>T
AA Mutation p.His9513Tyr(p.H9513Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8949216:8949216(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.27554C>T
AA Mutation p.Thr9185Ile(p.T9185I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8950725:8950725(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.26045T>C
AA Mutation p.Leu8682Pro(p.L8682P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8947084:8947084(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.29686G>T
AA Mutation p.Ala9896Ser(p.A9896S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8863420:8863420(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.42575C>T
AA Mutation p.Ala14192Val(p.A14192V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000397910
Start 8907883:8907883(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.37615G>T
AA Mutation p.Ala12539Ser(p.A12539S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8951440:8951440(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.25330G>A
AA Mutation p.Ala8444Thr(p.A8444T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8866992:8866992(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.42177C>A
AA Mutation p.Phe14059Leu(p.F14059L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8937047:8937047(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.33908C>A
AA Mutation p.Ser11303Tyr(p.S11303Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8950348:8950348(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.26422A>G
AA Mutation p.Ser8808Gly(p.S8808G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8883748:8883748(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.41468A>G
AA Mutation p.Gln13823Arg(p.Q13823R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8922960:8922960(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs541882432
CDS Mutation c.36301G>A
AA Mutation p.Ala12101Thr(p.A12101T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8939391:8939391(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.31564G>A
AA Mutation p.Glu10522Lys(p.E10522K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8945505:8945505(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs776423915
CDS Mutation c.31265G>A
AA Mutation p.Arg10422Gln(p.R10422Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8947807:8947807(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs182912100
CDS Mutation c.28963A>G
AA Mutation p.Thr9655Ala(p.T9655A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8948746:8948746(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.28024T>C
AA Mutation p.Ser9342Pro(p.S9342P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8950272:8950272(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs766028979
CDS Mutation c.26498G>A
AA Mutation p.Ser8833Asn(p.S8833N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8950647:8950647(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.26123C>A
AA Mutation p.Ser8708Tyr(p.S8708Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8950953:8950953(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs182118027
CDS Mutation c.25817G>A
AA Mutation p.Arg8606His(p.R8606H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 24
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8956811:8956811(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.19959C>A
AA Mutation p.Phe6653Leu(p.F6653L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 25
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8958321:8958321(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.18449C>A
AA Mutation p.Ser6150Tyr(p.S6150Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 26
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8962155:8962155(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.14615T>A
AA Mutation p.Ile4872Asn(p.I4872N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 27
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8966791:8966791(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9979A>G
AA Mutation p.Thr3327Ala(p.T3327A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 28
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8967099:8967099(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9671T>C
AA Mutation p.Val3224Ala(p.V3224A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 29
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8978108:8978108(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3031G>A
AA Mutation p.Ala1011Thr(p.A1011T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 30
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8907831:8907831(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.37667A>C
AA Mutation p.Lys12556Thr(p.K12556T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 31
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8948250:8948250(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs370765065
CDS Mutation c.28520C>T
AA Mutation p.Thr9507Met(p.T9507M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 32
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8910149:8910149(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.37277C>A
AA Mutation p.Pro12426His(p.P12426H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 33
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8936928:8936928(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.34027G>A
AA Mutation p.Glu11343Lys(p.E11343K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 34
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8955166:8955166(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.21604G>A
AA Mutation p.Asp7202Asn(p.D7202N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 35
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8973683:8973683(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7456G>C
AA Mutation p.Gly2486Arg(p.G2486R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 36
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8961024:8961024(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.15746C>A
AA Mutation p.Thr5249Lys(p.T5249K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 37
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8851704:8851704(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.43319G>T
AA Mutation p.Arg14440Ile(p.R14440I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 38
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8907879:8907879(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.37619G>T
AA Mutation p.Gly12540Val(p.G12540V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 39
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8961831:8961831(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.14939C>A
AA Mutation p.Pro4980His(p.P4980H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 40
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8957247:8957247(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs183160657
CDS Mutation c.19523C>A
AA Mutation p.Thr6508Asn(p.T6508N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 41
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8962003:8962003(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.14767G>A
AA Mutation p.Ala4923Thr(p.A4923T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 42
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8908623:8908623(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.37588C>T
AA Mutation p.Pro12530Ser(p.P12530S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 43
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8964424:8964424(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.12346G>A
AA Mutation p.Ala4116Thr(p.A4116T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 44
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8977579:8977579(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3560C>G
AA Mutation p.Thr1187Ser(p.T1187S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 45
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8905004:8905004(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.38143G>A
AA Mutation p.Asp12715Asn(p.D12715N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 46
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8937249:8937249(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.33706G>T
AA Mutation p.Asp11236Tyr(p.D11236Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 47
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8938782:8938782(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.32173C>T
AA Mutation p.Pro10725Ser(p.P10725S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 48
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8945745:8945745(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.31025C>A
AA Mutation p.Ser10342Tyr(p.S10342Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 49
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8949516:8949516(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.27254C>A
AA Mutation p.Ser9085Tyr(p.S9085Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 50
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8961603:8961603(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.15167C>A
AA Mutation p.Ser5056Tyr(p.S5056Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 51
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8962147:8962147(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.14623T>C
AA Mutation p.Ser4875Pro(p.S4875P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 52
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8965638:8965638(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11132C>A
AA Mutation p.Ser3711Tyr(p.S3711Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 53
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8966597:8966597(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.10173G>T
AA Mutation p.Glu3391Asp(p.E3391D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 54
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8972072:8972072(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.9067G>A
AA Mutation p.Ala3023Thr(p.A3023T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 55
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8975088:8975088(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6051G>T
AA Mutation p.Glu2017Asp(p.E2017D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 56
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8977669:8977669(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3470C>A
AA Mutation p.Ser1157Tyr(p.S1157Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 57
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8974906:8974906(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6233C>A
AA Mutation p.Ser2078Tyr(p.S2078Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 58
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8979028:8979028(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2111G>T
AA Mutation p.Arg704Ile(p.R704I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 59
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8976412:8976412(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4727C>A
AA Mutation p.Ser1576Tyr(p.S1576Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 60
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8906040:8906040(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.38021G>A
AA Mutation p.Gly12674Glu(p.G12674E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 61
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8947560:8947560(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.29210C>T
AA Mutation p.Thr9737Ile(p.T9737I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 62
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8937437:8937437(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.33518C>A
AA Mutation p.Ser11173Tyr(p.S11173Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 63
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8938430:8938430(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.32525T>G
AA Mutation p.Phe10842Cys(p.F10842C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 64
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8950480:8950480(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.26290G>A
AA Mutation p.Glu8764Lys(p.E8764K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 65
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8952516:8952516(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.24254C>A
AA Mutation p.Ser8085Tyr(p.S8085Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 66
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8953537:8953537(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.23233A>C
AA Mutation p.Ser7745Arg(p.S7745R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 67
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8954056:8954056(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.22714A>G
AA Mutation p.Thr7572Ala(p.T7572A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 68
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8958058:8958058(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.18712T>C
AA Mutation p.Ser6238Pro(p.S6238P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 69
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8961209:8961209(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.15561C>A
AA Mutation p.Phe5187Leu(p.F5187L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 70
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8963325:8963325(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs377647571
CDS Mutation c.13445C>T
AA Mutation p.Ala4482Val(p.A4482V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 71
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8964191:8964191(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.12579C>A
AA Mutation p.Phe4193Leu(p.F4193L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 72
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8971805:8971805(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9334A>C
AA Mutation p.Thr3112Pro(p.T3112P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 73
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8977891:8977891(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3248C>T
AA Mutation p.Ser1083Phe(p.S1083F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 74
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8948593:8948593(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.28177C>T
AA Mutation p.Pro9393Ser(p.P9393S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 75
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8958402:8958402(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.18368C>A
AA Mutation p.Ala6123Asp(p.A6123D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 76
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8949265:8949265(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.27505T>A
AA Mutation p.Ser9169Thr(p.S9169T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 77
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8962500:8962500(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.14270C>G
AA Mutation p.Pro4757Arg(p.P4757R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 78
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8955441:8955441(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.21329C>A
AA Mutation p.Pro7110His(p.P7110H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 79
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8948109:8948109(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.28661C>T
AA Mutation p.Ser9554Phe(p.S9554F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 80
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8947936:8947936(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.28834A>G
AA Mutation p.Thr9612Ala(p.T9612A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 81
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8956803:8956803(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.19967C>A
AA Mutation p.Ala6656Asp(p.A6656D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 82
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8950755:8950755(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.26015C>A
AA Mutation p.Pro8672His(p.P8672H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 83
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8974469:8974469(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs373571868
CDS Mutation c.6670G>A
AA Mutation p.Ala2224Thr(p.A2224T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 84
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8935388:8935388(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.35567C>T
AA Mutation p.Thr11856Ile(p.T11856I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 85
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8961242:8961242(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.15528G>C
AA Mutation p.Glu5176Asp(p.E5176D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 86
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8905034:8905034(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.38113T>G
AA Mutation p.Phe12705Val(p.F12705V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 87
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8946534:8946534(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.30236C>T
AA Mutation p.Thr10079Ile(p.T10079I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 88
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8956969:8956969(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.19801A>G
AA Mutation p.Thr6601Ala(p.T6601A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 89
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8965444:8965444(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs747063101
CDS Mutation c.11326T>G
AA Mutation p.Leu3776Val(p.L3776V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 90
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8952970:8952970(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.23800C>T
AA Mutation p.His7934Tyr(p.H7934Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 91
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8865620:8865620(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.42532T>G
AA Mutation p.Phe14178Val(p.F14178V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 92
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8979322:8979322(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1817C>A
AA Mutation p.Pro606His(p.P606H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 93
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8954781:8954781(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.21989C>A
AA Mutation p.Thr7330Lys(p.T7330K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 94
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8863328:8863328(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.42667T>G
AA Mutation p.Tyr14223Asp(p.Y14223D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 95
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8891965:8891965(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.40175A>G
AA Mutation p.Asp13392Gly(p.D13392G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 96
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8978924:8978924(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2215G>A
AA Mutation p.Ala739Thr(p.A739T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 97
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8951662:8951662(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.25108C>A
AA Mutation p.Leu8370Ile(p.L8370I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 98
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8953390:8953390(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.23380T>A
AA Mutation p.Ser7794Thr(p.S7794T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 99
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8957679:8957679(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.19091T>A
AA Mutation p.Leu6364Gln(p.L6364Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 100
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8871535:8871535(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.42064G>A
AA Mutation p.Gly14022Ser(p.G14022S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 101
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8950126:8950126(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs376649428
CDS Mutation c.26644C>T
AA Mutation p.Arg8882Trp(p.R8882W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 102
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8951164:8951164(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.25606A>C
AA Mutation p.Met8536Leu(p.M8536L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 103
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8957953:8957953(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.18817A>G
AA Mutation p.Thr6273Ala(p.T6273A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 104
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8889792:8889792(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.40516A>G
AA Mutation p.Thr13506Ala(p.T13506A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 105
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8935401:8935401(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.35554A>C
AA Mutation p.Thr11852Pro(p.T11852P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 106
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8896029:8896029(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.39543G>T
AA Mutation p.Glu13181Asp(p.E13181D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 107
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8959887:8959887(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.16883C>G
AA Mutation p.Thr5628Ser(p.T5628S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 108
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8973664:8973664(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7475G>C
AA Mutation p.Ser2492Thr(p.S2492T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 109
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8980005:8980005(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs780057979
CDS Mutation c.1134C>A
AA Mutation p.Ser378Arg(p.S378R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 110
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8917670:8917670(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs756454229
CDS Mutation c.36446G>A
AA Mutation p.Arg12149His(p.R12149H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 111
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8906678:8906678(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs767757881
CDS Mutation c.37970A>G
AA Mutation p.Tyr12657Cys(p.Y12657C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 112
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8975617:8975617(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5522C>T
AA Mutation p.Thr1841Ile(p.T1841I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 113
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8964937:8964937(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.11833C>A
AA Mutation p.His3945Asn(p.H3945N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 114
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8906322:8906322(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.37997C>A
AA Mutation p.Pro12666His(p.P12666H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 115
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8963417:8963417(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.13353C>A
AA Mutation p.Ser4451Arg(p.S4451R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 116
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8963887:8963887(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.12883G>A
AA Mutation p.Glu4295Lys(p.E4295K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 117
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000397910
Start 8899972:8899972(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs756739393
CDS Mutation c.39013A>G
AA Mutation p.Thr13005Ala(p.T13005A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 118
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8950983:8950983(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.25787T>C
AA Mutation p.Leu8596Pro(p.L8596P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 119
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8972005:8972005(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9134C>T
AA Mutation p.Pro3045Leu(p.P3045L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 120
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8974067:8974067(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs372186047
CDS Mutation c.7072C>T
AA Mutation p.Arg2358Trp(p.R2358W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 121
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8960200:8960200(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.16570A>G
AA Mutation p.Ile5524Val(p.I5524V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 122
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8914977:8914977(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.36801G>T
AA Mutation p.Lys12267Asn(p.K12267N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 123
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8974735:8974735(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6404C>A
AA Mutation p.Pro2135His(p.P2135H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 124
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8979337:8979337(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1802A>G
AA Mutation p.His601Arg(p.H601R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 125
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8938529:8938529(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.32426G>A
AA Mutation p.Arg10809Gln(p.R10809Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 126
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8979371:8979371(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1768C>G
AA Mutation p.Leu590Val(p.L590V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 127
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8974787:8974787(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs749152513
CDS Mutation c.6352G>A
AA Mutation p.Ala2118Thr(p.A2118T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 128
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8959812:8959812(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.16958T>A
AA Mutation p.Ile5653Asn(p.I5653N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 129
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8957439:8957439(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs61747870
CDS Mutation c.19331C>A
AA Mutation p.Thr6444Asn(p.T6444N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 130
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8980385:8980385(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.754A>C
AA Mutation p.Thr252Pro(p.T252P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 131
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8954710:8954710(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.22060A>C
AA Mutation p.Thr7354Pro(p.T7354P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 132
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8958463:8958463(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.18307G>A
AA Mutation p.Asp6103Asn(p.D6103N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 133
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8969828:8969828(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9527A>T
AA Mutation p.Gln3176Leu(p.Q3176L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 134
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8897162:8897162(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.39386C>T
AA Mutation p.Thr13129Ile(p.T13129I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 135
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8963625:8963625(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.13145C>A
AA Mutation p.Ser4382Tyr(p.S4382Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 136
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8978032:8978032(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3107C>T
AA Mutation p.Ala1036Val(p.A1036V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 137
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8935803:8935803(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.35152G>A
AA Mutation p.Val11718Ile(p.V11718I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 138
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8938979:8938979(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs199681488
CDS Mutation c.31976C>T
AA Mutation p.Ser10659Leu(p.S10659L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 139
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8957653:8957653(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.19117A>G
AA Mutation p.Thr6373Ala(p.T6373A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 140
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8957110:8957110(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.19660G>A
AA Mutation p.Asp6554Asn(p.D6554N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 141
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8977684:8977684(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3455G>A
AA Mutation p.Gly1152Asp(p.G1152D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 142
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8953404:8953404(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.23366C>A
AA Mutation p.Ser7789Tyr(p.S7789Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 143
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8955594:8955594(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.21176A>G
AA Mutation p.His7059Arg(p.H7059R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 144
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8965395:8965395(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.11375T>A
AA Mutation p.Met3792Lys(p.M3792K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 145
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8936175:8936175(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.34780A>C
AA Mutation p.Asn11594His(p.N11594H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 146
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8898641:8898641(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.39156G>T
AA Mutation p.Lys13052Asn(p.K13052N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 147
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8957437:8957437(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.19333A>G
AA Mutation p.Ile6445Val(p.I6445V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 148
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8937078:8937078(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.33877C>T
AA Mutation p.Pro11293Ser(p.P11293S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 149
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8960503:8960503(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs138208562
CDS Mutation c.16267G>A
AA Mutation p.Ala5423Thr(p.A5423T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 150
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8978917:8978917(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2222G>A
AA Mutation p.Ser741Asn(p.S741N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 151
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8851319:8851319(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.43382C>T
AA Mutation p.Ala14461Val(p.A14461V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 152
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8907811:8907811(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs780625713
CDS Mutation c.37687C>T
AA Mutation p.Arg12563Cys(p.R12563C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 153
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8946259:8946259(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.30511A>G
AA Mutation p.Lys10171Glu(p.K10171E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 154
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8954124:8954124(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.22646C>A
AA Mutation p.Thr7549Asn(p.T7549N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 155
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8955277:8955277(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.21493A>G
AA Mutation p.Thr7165Ala(p.T7165A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 156
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8974396:8974396(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6743C>A
AA Mutation p.Pro2248His(p.P2248H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 157
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8871577:8871577(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.42022C>T
AA Mutation p.Pro14008Ser(p.P14008S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 158
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8938622:8938622(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs746103851
CDS Mutation c.32333C>T
AA Mutation p.Ser10778Leu(p.S10778L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 159
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8957409:8957409(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs201728641
CDS Mutation c.19361C>T
AA Mutation p.Ala6454Val(p.A6454V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 160
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8907810:8907810(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs745990384
CDS Mutation c.37688G>A
AA Mutation p.Arg12563His(p.R12563H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 161
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8914272:8914272(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs373720975
CDS Mutation c.36914G>A
AA Mutation p.Arg12305His(p.R12305H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 162
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8938243:8938243(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.32712G>T
AA Mutation p.Glu10904Asp(p.E10904D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 163
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8943562:8943562(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.31384A>C
AA Mutation p.Lys10462Gln(p.K10462Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 164
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8951570:8951570(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.25200C>A
AA Mutation p.Phe8400Leu(p.F8400L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 165
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8954556:8954556(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.22214C>A
AA Mutation p.Ser7405Tyr(p.S7405Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 166
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8957025:8957025(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.19745A>G
AA Mutation p.Asp6582Gly(p.D6582G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 167
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8957490:8957490(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.19280C>A
AA Mutation p.Ser6427Tyr(p.S6427Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 168
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8962837:8962837(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.13933T>G
AA Mutation p.Phe4645Val(p.F4645V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 169
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8963287:8963287(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.13483G>T
AA Mutation p.Asp4495Tyr(p.D4495Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 170
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8964753:8964753(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.12017G>T
AA Mutation p.Arg4006Ile(p.R4006I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 171
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8965441:8965441(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11329C>T
AA Mutation p.Pro3777Ser(p.P3777S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 172
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8965684:8965684(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11086A>T
AA Mutation p.Thr3696Ser(p.T3696S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 173
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8973309:8973309(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7830G>T
AA Mutation p.Lys2610Asn(p.K2610N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 174
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8976094:8976094(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5045G>A
AA Mutation p.Gly1682Glu(p.G1682E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 175
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8977492:8977492(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3647C>T
AA Mutation p.Thr1216Ile(p.T1216I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 176
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8979596:8979596(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1543A>C
AA Mutation p.Lys515Gln(p.K515Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 177
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8979931:8979931(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs759924585
CDS Mutation c.1208C>T
AA Mutation p.Ala403Val(p.A403V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 178
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8891507:8891507(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.40321A>C
AA Mutation p.Thr13441Pro(p.T13441P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 179
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8936771:8936771(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.34184C>A
AA Mutation p.Thr11395Asn(p.T11395N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 180
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8937636:8937636(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.33319G>A
AA Mutation p.Ala11107Thr(p.A11107T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 181
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8949798:8949798(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.26972G>T
AA Mutation p.Arg8991Ile(p.R8991I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 182
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8951800:8951800(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.24970A>C
AA Mutation p.Asn8324His(p.N8324H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 183
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8954068:8954068(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.22702A>G
AA Mutation p.Thr7568Ala(p.T7568A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 184
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8957007:8957007(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.19763C>A
AA Mutation p.Pro6588His(p.P6588H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 185
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8958438:8958438(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.18332C>A
AA Mutation p.Ala6111Glu(p.A6111E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 186
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8964711:8964711(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.12059T>C
AA Mutation p.Val4020Ala(p.V4020A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 187
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8964978:8964978(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11792G>T
AA Mutation p.Arg3931Ile(p.R3931I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 188
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8980582:8980582(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.557C>A
AA Mutation p.Pro186His(p.P186H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 189
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8896817:8896817(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.39475C>T
AA Mutation p.Pro13159Ser(p.P13159S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 190
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8959105:8959105(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.17665A>T
AA Mutation p.Thr5889Ser(p.T5889S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 191
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8906793:8906793(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs765697877
CDS Mutation c.37855C>T
AA Mutation p.Arg12619Cys(p.R12619C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 192
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8980388:8980388(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.751G>A
AA Mutation p.Glu251Lys(p.E251K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 193
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8972264:8972264(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8875A>T
AA Mutation p.Thr2959Ser(p.T2959S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 194
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8876548:8876548(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs756887648
CDS Mutation c.41863G>A
AA Mutation p.Val13955Ile(p.V13955I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 195
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8892912:8892912(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs369380417
CDS Mutation c.40052C>T
AA Mutation p.Thr13351Met(p.T13351M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 196
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8935926:8935926(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs747649257
CDS Mutation c.35029C>T
AA Mutation p.Arg11677Trp(p.R11677W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 197
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8960826:8960826(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs368885004
CDS Mutation c.15944G>A
AA Mutation p.Gly5315Asp(p.G5315D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 198
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8961442:8961442(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.15328G>T
AA Mutation p.Asp5110Tyr(p.D5110Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 199
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8961959:8961959(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.14811T>G
AA Mutation p.Ser4937Arg(p.S4937R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 200
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8917569:8917569(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs200670536
CDS Mutation c.36547C>T
AA Mutation p.Arg12183Trp(p.R12183W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 201
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8965097:8965097(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.11673A>C
AA Mutation p.Glu3891Asp(p.E3891D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 202
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8949565:8949565(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.27205C>A
AA Mutation p.Pro9069Thr(p.P9069T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 203
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8889842:8889842(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.40466A>G
AA Mutation p.Asn13489Ser(p.N13489S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 204
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8949816:8949816(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.26954C>T
AA Mutation p.Ala8985Val(p.A8985V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 205
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8955894:8955894(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.20876C>T
AA Mutation p.Ser6959Phe(p.S6959F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 206
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8956709:8956709(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.20061G>T
AA Mutation p.Glu6687Asp(p.E6687D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 207
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8959942:8959942(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs753471783
CDS Mutation c.16828C>T
AA Mutation p.Arg5610Trp(p.R5610W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 208
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8963486:8963486(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.13284G>T
AA Mutation p.Lys4428Asn(p.K4428N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 209
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8966835:8966835(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.9935C>A
AA Mutation p.Ser3312Tyr(p.S3312Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 210
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8973866:8973866(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7273G>A
AA Mutation p.Ala2425Thr(p.A2425T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 211
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8980065:8980065(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1074G>T
AA Mutation p.Lys358Asn(p.K358N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 212
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8979556:8979556(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1583T>G
AA Mutation p.Phe528Cys(p.F528C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 213
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8938844:8938844(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.32111A>G
AA Mutation p.His10704Arg(p.H10704R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 214
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8903978:8903978(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs548938808
CDS Mutation c.38321G>A
AA Mutation p.Arg12774His(p.R12774H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 215
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8959210:8959210(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.17560A>T
AA Mutation p.Thr5854Ser(p.T5854S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 216
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8951961:8951961(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.24809T>A
AA Mutation p.Leu8270Gln(p.L8270Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 217
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8973504:8973504(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7635T>A
AA Mutation p.His2545Gln(p.H2545Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 218
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8966676:8966676(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10094C>A
AA Mutation p.Ser3365Tyr(p.S3365Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 219
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8973749:8973749(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7390G>A
AA Mutation p.Ala2464Thr(p.A2464T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 220
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8975365:8975365(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5774C>T
AA Mutation p.Ser1925Phe(p.S1925F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 221
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8972332:8972332(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8807A>C
AA Mutation p.Asn2936Thr(p.N2936T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 222
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8976812:8976812(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4327C>A
AA Mutation p.Leu1443Met(p.L1443M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 223
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8963599:8963599(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.13171A>C
AA Mutation p.Thr4391Pro(p.T4391P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 224
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8978618:8978618(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2521C>T
AA Mutation p.Pro841Ser(p.P841S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 225
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8885713:8885713(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.41183G>T
AA Mutation p.Ser13728Ile(p.S13728I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 226
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8975719:8975719(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5420G>A
AA Mutation p.Gly1807Glu(p.G1807E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 227
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8885791:8885791(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.41105G>A
AA Mutation p.Gly13702Glu(p.G13702E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 228
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8915589:8915589(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.36721C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 229
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8952104:8952104(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs768109883
CDS Mutation c.24666A>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 230
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8965244:8965244(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11526A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 231
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8938756:8938756(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.32199A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 232
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8927420:8927420(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.36180C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 233
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8936515:8936515(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.34440G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 234
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8947166:8947166(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs369819142
CDS Mutation c.29604G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 235
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8949205:8949205(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.27565T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 236
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8976870:8976870(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs763819461
CDS Mutation c.4269C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 237
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8895022:8895022(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs767888838
CDS Mutation c.39708C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 238
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8958071:8958071(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.18699T>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 239
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8960135:8960135(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.16635A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 240
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8959103:8959103(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.17667T>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 241
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8950367:8950367(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.26403C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 242
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8946272:8946272(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs769401724
CDS Mutation c.30498T>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 243
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8976744:8976744(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4395G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 244
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8979096:8979096(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2043G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 245
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8900701:8900701(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.38856T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 246
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8947145:8947145(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs550075067
CDS Mutation c.29625G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 247
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8961509:8961509(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.15261G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 248
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8952116:8952116(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.24654C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 249
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8950475:8950475(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.26295C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 250
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8952311:8952311(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.24459C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 251
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8955821:8955821(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.20949C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 252
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8979207:8979207(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs751583909
CDS Mutation c.1932G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 253
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8979165:8979165(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs772586153
CDS Mutation c.1974G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 254
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8953445:8953445(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs747626109
CDS Mutation c.23325C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 255
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8937001:8937001(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.33954G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 256
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8935926:8935926(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs747649257
CDS Mutation c.35029C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 257
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8976927:8976927(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs753275982
CDS Mutation c.4212A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 258
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8938972:8938972(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.31983A>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 259
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8975205:8975205(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5934C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 260
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8980431:8980431(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.708C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 261
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8960792:8960792(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.15978T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 262
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8979228:8979228(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs374207045
CDS Mutation c.1911C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 263
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8958050:8958050(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.18720G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 264
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8947331:8947331(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.29439G>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 265
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8938987:8938987(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.31968C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 266
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8946899:8946899(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.29871C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 267
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8966411:8966411(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.10359C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 268
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8952494:8952494(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.24276C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 269
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8949338:8949338(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.27432C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 270
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8948195:8948195(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.28575C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 271
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8956976:8956976(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs766192354
CDS Mutation c.19794G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 272
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8966228:8966228(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs777000563
CDS Mutation c.10542G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 273
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8972622:8972622(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8517T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 274
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8975985:8975985(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5154A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 275
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8977671:8977671(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3468A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 276
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8969827:8969827(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9528A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 277
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8957702:8957702(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.19068T>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 278
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8966828:8966828(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.9942C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 279
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8958467:8958467(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.18303C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 280
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8964260:8964260(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs377291046
CDS Mutation c.12510G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 281
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8963306:8963306(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.13464T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 282
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8972910:8972910(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8229G>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 283
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8974047:8974047(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7092C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 284
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8975124:8975124(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6015C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 285
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8937853:8937853(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.33102T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 286
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8978169:8978169(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2970T>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 287
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8952482:8952482(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.24288G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 288
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8889844:8889844(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.40464T>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 289
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8953121:8953121(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.23649C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 290
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8958305:8958305(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs769529269
CDS Mutation c.18465C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 291
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8961914:8961914(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.14856C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 292
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8962211:8962211(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.14559G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 293
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8977221:8977221(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3918G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 294
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8956166:8956166(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs549236989
CDS Mutation c.20604G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 295
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8956934:8956934(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.19836C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 296
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8979222:8979222(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1917T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 297
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8851285:8851285(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs189237583
CDS Mutation c.43416C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 298
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8938477:8938477(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs774569415
CDS Mutation c.32478G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 299
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8956646:8956646(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.20124A>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 300
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8975058:8975058(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6081C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 301
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8954993:8954993(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.21777A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 302
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8882845:8882845(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs561651057
CDS Mutation c.41568C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 303
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8956472:8956472(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs267605796
CDS Mutation c.20298G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 304
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8975439:8975439(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5700G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 305
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8980367:8980367(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.772C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 306
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8916547:8916547(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.36663C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 307
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8907830:8907830(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.37668G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 308
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8979264:8979264(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1875C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 309
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8949257:8949257(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs372068481
CDS Mutation c.27513G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 310
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8885778:8885778(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.41118C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 311
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8960234:8960234(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.16536C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 312
Mutation Consequence frameshift_variant
Transcription ID ENST00000397910
Start 8972332:8972332(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.8807delA
AA Mutation p.Asn2936ThrfsTer6(p.N2936Tfs*6)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 313
Mutation Consequence frameshift_variant
Transcription ID ENST00000397910
Start 8935416:8935416(version: GRCh38)
Mutation Type DEL
dbSNP_RS rs761846387
CDS Mutation c.35539delA
AA Mutation p.Thr11847GlnfsTer15(p.T11847Qfs*15)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 314
Mutation Consequence frameshift_variant
Transcription ID ENST00000397910
Start 8980151:8980151(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.988delT
AA Mutation p.Ser330ProfsTer2(p.S330Pfs*2)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 315
Mutation Consequence frameshift_variant
Transcription ID ENST00000397910
Start 8953634:8953634(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.23136delC
AA Mutation p.Ser7713LeufsTer5(p.S7713Lfs*5)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 316
Mutation Consequence frameshift_variant
Transcription ID ENST00000397910
Start 8948481:8948481(version: GRCh38)
Mutation Type DEL
dbSNP_RS rs774904775
CDS Mutation c.28289delA
AA Mutation p.Asn9430ThrfsTer13(p.N9430Tfs*13)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 317
Mutation Consequence frameshift_variant
Transcription ID ENST00000397910
Start 8956959:8956959(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.19811delA
AA Mutation p.Lys6604ArgfsTer26(p.K6604Rfs*26)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 318
Mutation Consequence frameshift_variant
Transcription ID ENST00000397910
Start 8938427:8938427(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.32528delT
AA Mutation p.Phe10843SerfsTer11(p.F10843Sfs*11)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 319
Mutation Consequence frameshift_variant
Transcription ID ENST00000397910
Start 8950403:8950403(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.26367delC
AA Mutation p.Thr8791GlnfsTer38(p.T8791Qfs*38)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 320
Mutation Consequence stop_gained
Transcription ID ENST00000397910
Start 8972984:8972984(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8155G>T
AA Mutation p.Glu2719Ter(p.E2719*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 321
Mutation Consequence stop_gained
Transcription ID ENST00000397910
Start 8894970:8894970(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.39760C>T
AA Mutation p.Gln13254Ter(p.Q13254*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 322
Mutation Consequence stop_gained
Transcription ID ENST00000397910
Start 8973211:8973211(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7928T>A
AA Mutation p.Leu2643Ter(p.L2643*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 323
Mutation Consequence stop_gained
Transcription ID ENST00000397910
Start 8965536:8965536(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.11234C>A
AA Mutation p.Ser3745Ter(p.S3745*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 324
Mutation Consequence stop_gained
Transcription ID ENST00000397910
Start 8866126:8866126(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.42264T>G
AA Mutation p.Tyr14088Ter(p.Y14088*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 325
Mutation Consequence stop_gained
Transcription ID ENST00000397910
Start 8979863:8979863(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1276G>T
AA Mutation p.Gly426Ter(p.G426*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 326
Mutation Consequence stop_gained
Transcription ID ENST00000397910
Start 8979977:8979977(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1162G>T
AA Mutation p.Glu388Ter(p.E388*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 327
Mutation Consequence stop_gained
Transcription ID ENST00000397910
Start 8978546:8978546(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2593G>T
AA Mutation p.Glu865Ter(p.E865*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 328
Mutation Consequence stop_gained
Transcription ID ENST00000397910
Start 8956585:8956585(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.20185G>T
AA Mutation p.Glu6729Ter(p.E6729*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 329
Mutation Consequence stop_gained
Transcription ID ENST00000397910
Start 8967073:8967073(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.9697G>T
AA Mutation p.Glu3233Ter(p.E3233*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 330
Mutation Consequence stop_gained
Transcription ID ENST00000397910
Start 8980130:8980130(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1009G>T
AA Mutation p.Glu337Ter(p.E337*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 331
Mutation Consequence stop_gained
Transcription ID ENST00000397910
Start 8896869:8896869(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.39423G>A
AA Mutation p.Trp13141Ter(p.W13141*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 332
Mutation Consequence stop_gained
Transcription ID ENST00000397910
Start 8977913:8977913(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3226G>T
AA Mutation p.Glu1076Ter(p.E1076*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 333
Mutation Consequence stop_gained
Transcription ID ENST00000397910
Start 8956311:8956311(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.20459T>A
AA Mutation p.Leu6820Ter(p.L6820*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 334
Mutation Consequence stop_gained;frameshift_variant
Transcription ID ENST00000397910
Start 8956932:8956933(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.19837_19838insTGTA
AA Mutation p.Tyr6613LeufsTer2(p.Y6613Lfs*2)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 335
Mutation Consequence stop_gained
Transcription ID ENST00000397910
Start 8936928:8936928(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.34027G>T
AA Mutation p.Glu11343Ter(p.E11343*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 336
Mutation Consequence frameshift_variant
Transcription ID ENST00000397910
Start 8952867:8952868(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.23902dupA
AA Mutation p.Thr7968AsnfsTer2(p.T7968Nfs*2)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 337
Mutation Consequence frameshift_variant
Transcription ID ENST00000397910
Start 8965875:8965876(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.10894dupC
AA Mutation p.His3632ProfsTer17(p.H3632Pfs*17)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 338
Mutation Consequence frameshift_variant
Transcription ID ENST00000397910
Start 8976319:8976320(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.4819dupT
AA Mutation p.Trp1607LeufsTer13(p.W1607Lfs*13)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 339
Mutation Consequence frameshift_variant
Transcription ID ENST00000397910
Start 8958477:8958478(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.18292_18293insGGTTGATGTGTCCAGGGTCAGTTGGCCAAGAGATGTCACC
AA Mutation p.Ser6098TrpfsTer23(p.S6098Wfs*23)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 340
Mutation Consequence frameshift_variant
Transcription ID ENST00000397910
Start 8980573:8980574(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.565dupA
AA Mutation p.Ile189AsnfsTer26(p.I189Nfs*26)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 341
Mutation Consequence frameshift_variant
Transcription ID ENST00000397910
Start 8972486:8972487(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.8652dupG
AA Mutation p.Ile2885AspfsTer9(p.I2885Dfs*9)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 342
Mutation Consequence frameshift_variant
Transcription ID ENST00000397910
Start 8951962:8951963(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.24807_24808insTGGT
AA Mutation p.Leu8270TrpfsTer63(p.L8270Wfs*63)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 343
Mutation Consequence frameshift_variant
Transcription ID ENST00000397910
Start 8956931:8956932(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.19838_19839insT
AA Mutation p.Ser6614LeufsTer30(p.S6614Lfs*30)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 344
Mutation Consequence frameshift_variant
Transcription ID ENST00000397910
Start 8962451:8962452(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.14317_14318dupGT
AA Mutation p.Ser4774PhefsTer12(p.S4774Ffs*12)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 345
Mutation Consequence frameshift_variant
Transcription ID ENST00000397910
Start 8973503:8973504(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.7635_7636insAAGG
AA Mutation p.Leu2546LysfsTer23(p.L2546Kfs*23)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 346
Mutation Consequence splice_donor_variant
Transcription ID ENST00000397910
Start 8868539:8868539(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.42154+2T>G
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 347
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000397910
Start 8898659:8898659(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.39139-1G>A
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 348
Mutation Consequence inframe_insertion
Transcription ID ENST00000397910
Start 8966882:8966883(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.9887_9888insGCCATTATCTTA
AA Mutation p.Leu3296_Tyr3297insProLeuSerTyr(p.L3296_Y3297insPLSY)
Mutation Classification In_Frame_Ins
Feature Type Transcript
Mutation ID 349
Mutation Consequence inframe_insertion
Transcription ID ENST00000397910
Start 8953699:8953700(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.23070_23071insTACCCAAGATAT
AA Mutation p.Pro7690_Leu7691insTyrProArgTyr(p.P7690_L7691insYPRY)
Mutation Classification In_Frame_Ins
Feature Type Transcript
Mutation ID 350
Mutation Consequence protein_altering_variant
Transcription ID ENST00000397910
Start 8958312:8958313(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.18457_18458insTCATTG
AA Mutation p.Lys6153delinsIleIleGlu(p.K6153delinsIIE)
Mutation Classification In_Frame_Ins
Feature Type Transcript
Mutation ID 351
Mutation Consequence inframe_insertion
Transcription ID ENST00000397910
Start 8958914:8958915(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.17855_17856insATTGGT
AA Mutation p.Thr5952_Ser5953insLeuVal(p.T5952_S5953insLV)
Mutation Classification In_Frame_Ins
Feature Type Transcript

Rectum Cancer: Gene >> MUC16

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8900002:8900002(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.38983G>T
AA Mutation p.Gly12995Trp(p.G12995W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8914278:8914278(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.36908C>T
AA Mutation p.Thr12303Ile(p.T12303I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8952737:8952737(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.24033A>C
AA Mutation p.Lys8011Asn(p.K8011N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8956050:8956050(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.20720A>G
AA Mutation p.Asp6907Gly(p.D6907G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8958993:8958993(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.17777C>A
AA Mutation p.Ser5926Tyr(p.S5926Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8960653:8960653(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.16117C>A
AA Mutation p.Leu5373Met(p.L5373M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8963325:8963325(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs377647571
CDS Mutation c.13445C>T
AA Mutation p.Ala4482Val(p.A4482V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8963506:8963506(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs745571594
CDS Mutation c.13264G>T
AA Mutation p.Asp4422Tyr(p.D4422Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8967090:8967090(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs373019490
CDS Mutation c.9680C>A
AA Mutation p.Ser3227Tyr(p.S3227Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8972021:8972021(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.9118A>G
AA Mutation p.Thr3040Ala(p.T3040A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8980120:8980120(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1019C>T
AA Mutation p.Ala340Val(p.A340V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8972571:8972571(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8568G>C
AA Mutation p.Glu2856Asp(p.E2856D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8949541:8949541(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.27229A>C
AA Mutation p.Met9077Leu(p.M9077L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8950953:8950953(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs182118027
CDS Mutation c.25817G>A
AA Mutation p.Arg8606His(p.R8606H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8976460:8976460(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4679C>A
AA Mutation p.Ala1560Glu(p.A1560E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8957865:8957865(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.18905C>A
AA Mutation p.Ala6302Glu(p.A6302E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8938553:8938553(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs370847991
CDS Mutation c.32402C>T
AA Mutation p.Ala10801Val(p.A10801V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8980902:8980902(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.237G>T
AA Mutation p.Leu79Phe(p.L79F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8966637:8966637(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.10133C>A
AA Mutation p.Ser3378Tyr(p.S3378Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8946561:8946561(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs577699787
CDS Mutation c.30209C>T
AA Mutation p.Thr10070Ile(p.T10070I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8979575:8979575(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1564G>A
AA Mutation p.Glu522Lys(p.E522K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8955755:8955755(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.21015G>C
AA Mutation p.Leu7005Phe(p.L7005F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8975981:8975981(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5158A>C
AA Mutation p.Ser1720Arg(p.S1720R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 24
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8976710:8976710(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4429T>C
AA Mutation p.Ser1477Pro(p.S1477P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 25
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8975234:8975234(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5905C>A
AA Mutation p.Pro1969Thr(p.P1969T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 26
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8948602:8948602(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.28168G>A
AA Mutation p.Ala9390Thr(p.A9390T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 27
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8965690:8965690(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11080A>C
AA Mutation p.Ser3694Arg(p.S3694R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 28
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8935044:8935044(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.35911A>C
AA Mutation p.Thr11971Pro(p.T11971P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 29
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8972042:8972042(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.9097A>T
AA Mutation p.Ser3033Cys(p.S3033C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 30
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8936777:8936777(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.34178C>T
AA Mutation p.Thr11393Ile(p.T11393I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 31
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8908939:8908939(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs375258130
CDS Mutation c.37531G>A
AA Mutation p.Val12511Met(p.V12511M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 32
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8910436:8910436(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.37211A>G
AA Mutation p.Asp12404Gly(p.D12404G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 33
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8937767:8937767(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.33188C>A
AA Mutation p.Ser11063Tyr(p.S11063Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 34
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8939536:8939536(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.31419G>T
AA Mutation p.Glu10473Asp(p.E10473D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 35
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8976850:8976850(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4289G>A
AA Mutation p.Ser1430Asn(p.S1430N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 36
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8979832:8979832(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1307C>A
AA Mutation p.Ser436Tyr(p.S436Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 37
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8980953:8980953(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.186G>T
AA Mutation p.Lys62Asn(p.K62N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 38
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8917656:8917656(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.36460G>T
AA Mutation p.Asp12154Tyr(p.D12154Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 39
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8927728:8927728(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs369910554
CDS Mutation c.36115C>T
AA Mutation p.Arg12039Trp(p.R12039W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 40
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8936074:8936074(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.34881A>G
AA Mutation p.Ile11627Met(p.I11627M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 41
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8938199:8938199(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.32756C>A
AA Mutation p.Ser10919Tyr(p.S10919Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 42
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8948031:8948031(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.28739C>A
AA Mutation p.Ser9580Tyr(p.S9580Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 43
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8948493:8948493(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.28277C>A
AA Mutation p.Ser9426Tyr(p.S9426Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 44
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8952957:8952957(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.23813C>A
AA Mutation p.Ser7938Tyr(p.S7938Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 45
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8956536:8956536(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.20234C>A
AA Mutation p.Ser6745Tyr(p.S6745Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 46
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8957454:8957454(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.19316A>C
AA Mutation p.Lys6439Thr(p.K6439T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 47
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8958479:8958479(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.18291C>A
AA Mutation p.Phe6097Leu(p.F6097L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 48
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8960994:8960994(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.15776C>A
AA Mutation p.Ser5259Tyr(p.S5259Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 49
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8961640:8961640(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.15130C>A
AA Mutation p.Leu5044Met(p.L5044M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 50
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8965112:8965112(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11658G>T
AA Mutation p.Met3886Ile(p.M3886I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 51
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8965984:8965984(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10786G>T
AA Mutation p.Asp3596Tyr(p.D3596Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 52
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8972911:8972911(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs371402846
CDS Mutation c.8228C>T
AA Mutation p.Ser2743Leu(p.S2743L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 53
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8973859:8973859(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7280C>T
AA Mutation p.Ser2427Phe(p.S2427F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 54
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8973970:8973970(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7169C>T
AA Mutation p.Ser2390Phe(p.S2390F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 55
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8974907:8974907(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6232T>G
AA Mutation p.Ser2078Ala(p.S2078A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 56
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8976038:8976038(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5101T>C
AA Mutation p.Ser1701Pro(p.S1701P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 57
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8977924:8977924(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3215C>T
AA Mutation p.Thr1072Ile(p.T1072I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 58
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8979112:8979112(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2027C>A
AA Mutation p.Ser676Tyr(p.S676Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 59
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8939004:8939004(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.31951G>T
AA Mutation p.Ala10651Ser(p.A10651S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 60
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8956153:8956153(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.20617G>A
AA Mutation p.Asp6873Asn(p.D6873N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 61
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8862910:8862910(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.42730C>A
AA Mutation p.His14244Asn(p.H14244N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 62
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8865613:8865613(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.42539T>C
AA Mutation p.Val14180Ala(p.V14180A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 63
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8903210:8903210(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.38504T>G
AA Mutation p.Leu12835Arg(p.L12835R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 64
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8914209:8914209(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.36977C>T
AA Mutation p.Thr12326Ile(p.T12326I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 65
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8916585:8916585(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.36625G>A
AA Mutation p.Asp12209Asn(p.D12209N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 66
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8947150:8947150(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.29620T>A
AA Mutation p.Ser9874Thr(p.S9874T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 67
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8947630:8947630(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.29140T>G
AA Mutation p.Ser9714Ala(p.S9714A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 68
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8950455:8950455(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.26315G>T
AA Mutation p.Arg8772Ile(p.R8772I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 69
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8951218:8951218(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.25552A>C
AA Mutation p.Thr8518Pro(p.T8518P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 70
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8952229:8952229(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.24541G>A
AA Mutation p.Glu8181Lys(p.E8181K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 71
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8954083:8954083(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.22687C>A
AA Mutation p.Leu7563Ile(p.L7563I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 72
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8958376:8958376(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.18394G>A
AA Mutation p.Asp6132Asn(p.D6132N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 73
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8961603:8961603(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.15167C>A
AA Mutation p.Ser5056Tyr(p.S5056Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 74
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8962112:8962112(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.14658G>T
AA Mutation p.Glu4886Asp(p.E4886D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 75
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8962384:8962384(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.14386A>G
AA Mutation p.Thr4796Ala(p.T4796A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 76
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8962695:8962695(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.14075T>C
AA Mutation p.Ile4692Thr(p.I4692T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 77
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8965436:8965436(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11334C>A
AA Mutation p.Phe3778Leu(p.F3778L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 78
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8966616:8966616(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.10154A>C
AA Mutation p.Lys3385Thr(p.K3385T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 79
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8966935:8966935(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.9835G>T
AA Mutation p.Ala3279Ser(p.A3279S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 80
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8972015:8972015(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.9124T>G
AA Mutation p.Phe3042Val(p.F3042V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 81
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8972743:8972743(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8396G>A
AA Mutation p.Gly2799Glu(p.G2799E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 82
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8975296:8975296(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs535890315
CDS Mutation c.5843C>A
AA Mutation p.Ser1948Tyr(p.S1948Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 83
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8975858:8975858(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5281G>A
AA Mutation p.Glu1761Lys(p.E1761K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 84
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8980761:8980761(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs777277514
CDS Mutation c.378G>T
AA Mutation p.Leu126Phe(p.L126F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 85
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8904025:8904025(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs568692665
CDS Mutation c.38274C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 86
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8960456:8960456(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.16314C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 87
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8979663:8979663(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs570953178
CDS Mutation c.1476G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 88
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8980371:8980371(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.768G>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 89
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8976834:8976834(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4305T>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 90
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8953295:8953295(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.23475A>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 91
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8964713:8964713(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs778816991
CDS Mutation c.12057C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 92
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8976339:8976339(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4800C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 93
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8939047:8939047(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs779800465
CDS Mutation c.31908C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 94
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8965547:8965547(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.11223G>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 95
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8963888:8963888(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs370292934
CDS Mutation c.12882C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 96
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8976756:8976756(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4383G>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 97
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8958800:8958800(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.17970A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 98
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8973267:8973267(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs773313432
CDS Mutation c.7872G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 99
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8964467:8964467(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.12303C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 100
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8876558:8876558(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.41853C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 101
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8947187:8947187(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.29583C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 102
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8948174:8948174(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.28596C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 103
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8952488:8952488(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.24282G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 104
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8957759:8957759(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.19011C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 105
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8960249:8960249(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.16521C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 106
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8962964:8962964(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.13806A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 107
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8976393:8976393(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs771905967
CDS Mutation c.4746C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 108
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8978865:8978865(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2274A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 109
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8949647:8949647(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.27123C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 110
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8980440:8980440(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.699T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 111
Mutation Consequence frameshift_variant
Transcription ID ENST00000397910
Start 8946145:8946145(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.30625delA
AA Mutation p.Thr10209HisfsTer19(p.T10209Hfs*19)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 112
Mutation Consequence stop_gained
Transcription ID ENST00000397910
Start 8946571:8946571(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.30199G>T
AA Mutation p.Glu10067Ter(p.E10067*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 113
Mutation Consequence stop_gained
Transcription ID ENST00000397910
Start 8977444:8977444(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3695C>A
AA Mutation p.Ser1232Ter(p.S1232*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 114
Mutation Consequence stop_gained
Transcription ID ENST00000397910
Start 8939162:8939162(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.31793C>A
AA Mutation p.Ser10598Ter(p.S10598*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 115
Mutation Consequence stop_gained
Transcription ID ENST00000397910
Start 8948800:8948800(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.27970G>T
AA Mutation p.Glu9324Ter(p.E9324*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 116
Mutation Consequence stop_gained
Transcription ID ENST00000397910
Start 8949544:8949544(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.27226G>T
AA Mutation p.Glu9076Ter(p.E9076*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 117
Mutation Consequence stop_gained
Transcription ID ENST00000397910
Start 8960779:8960779(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.15991G>T
AA Mutation p.Glu5331Ter(p.E5331*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 118
Mutation Consequence stop_gained
Transcription ID ENST00000397910
Start 8974196:8974196(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6943G>T
AA Mutation p.Glu2315Ter(p.E2315*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 119
Mutation Consequence stop_gained
Transcription ID ENST00000397910
Start 8978546:8978546(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2593G>T
AA Mutation p.Glu865Ter(p.E865*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 120
Mutation Consequence frameshift_variant
Transcription ID ENST00000397910
Start 8964553:8964554(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.12216dupC
AA Mutation p.Ser4073LeufsTer9(p.S4073Lfs*9)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 121
Mutation Consequence splice_donor_variant
Transcription ID ENST00000397910
Start 8943558:8943558(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.31387+1G>A
Mutation Classification Splice_Site
Feature Type Transcript