Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> TENM1

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000371130
Start 124641879:124641879(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1989A>C
AA Mutation p.Gln663His(p.Q663H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000371130
Start 124963606:124963606(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.148A>G
AA Mutation p.Asn50Asp(p.N50D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000371130
Start 124381128:124381128(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7586C>T
AA Mutation p.Ala2529Val(p.A2529V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000371130
Start 124520780:124520780(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3038T>C
AA Mutation p.Val1013Ala(p.V1013A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000371130
Start 124385971:124385971(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs775936005
CDS Mutation c.5761C>T
AA Mutation p.Arg1921Cys(p.R1921C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000371130
Start 124645317:124645317(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1702G>A
AA Mutation p.Gly568Ser(p.G568S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000371130
Start 124405053:124405053(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5348C>T
AA Mutation p.Ser1783Leu(p.S1783L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000371130
Start 124481882:124481882(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3778G>T
AA Mutation p.Val1260Phe(p.V1260F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000371130
Start 124894337:124894337(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.494C>T
AA Mutation p.Pro165Leu(p.P165L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000371130
Start 124420351:124420351(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4921G>A
AA Mutation p.Ala1641Thr(p.A1641T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000371130
Start 124383919:124383919(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6991G>T
AA Mutation p.Gly2331Cys(p.G2331C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000371130
Start 124653633:124653633(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1319C>A
AA Mutation p.Ser440Tyr(p.S440Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000371130
Start 124384336:124384336(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6574A>T
AA Mutation p.Thr2192Ser(p.T2192S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000371130
Start 124896179:124896179(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs377038677
CDS Mutation c.280G>A
AA Mutation p.Val94Ile(p.V94I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000371130
Start 124420539:124420539(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4733C>T
AA Mutation p.Ala1578Val(p.A1578V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000371130
Start 124422412:124422412(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4310G>T
AA Mutation p.Gly1437Val(p.G1437V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000371130
Start 124896238:124896238(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.221T>A
AA Mutation p.Met74Lys(p.M74K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000371130
Start 124453444:124453444(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3976A>G
AA Mutation p.Met1326Val(p.M1326V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000371130
Start 124481929:124481929(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3731A>G
AA Mutation p.Asp1244Gly(p.D1244G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000371130
Start 124384840:124384840(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6070C>T
AA Mutation p.Arg2024Cys(p.R2024C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000371130
Start 124963713:124963713(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.41A>G
AA Mutation p.Lys14Arg(p.K14R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000371130
Start 124652104:124652104(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1389G>T
AA Mutation p.Met463Ile(p.M463I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000371130
Start 124385710:124385710(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs139796800
CDS Mutation c.6022G>A
AA Mutation p.Gly2008Arg(p.G2008R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 24
Mutation Consequence missense_variant
Transcription ID ENST00000371130
Start 124386036:124386036(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs753712664
CDS Mutation c.5696G>A
AA Mutation p.Arg1899Gln(p.R1899Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 25
Mutation Consequence missense_variant
Transcription ID ENST00000371130
Start 124653759:124653759(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1193A>T
AA Mutation p.Asp398Val(p.D398V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 26
Mutation Consequence missense_variant
Transcription ID ENST00000371130
Start 124383781:124383781(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7129G>C
AA Mutation p.Asp2377His(p.D2377H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 27
Mutation Consequence missense_variant
Transcription ID ENST00000371130
Start 124384358:124384358(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6552C>G
AA Mutation p.Ser2184Arg(p.S2184R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 28
Mutation Consequence missense_variant
Transcription ID ENST00000371130
Start 124963611:124963611(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.143A>G
AA Mutation p.Glu48Gly(p.E48G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 29
Mutation Consequence missense_variant
Transcription ID ENST00000371130
Start 124384103:124384103(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6807C>A
AA Mutation p.Phe2269Leu(p.F2269L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 30
Mutation Consequence missense_variant
Transcription ID ENST00000371130
Start 124546949:124546949(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2576T>G
AA Mutation p.Phe859Cys(p.F859C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 31
Mutation Consequence missense_variant
Transcription ID ENST00000371130
Start 124385898:124385898(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5834C>A
AA Mutation p.Ser1945Tyr(p.S1945Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 32
Mutation Consequence missense_variant
Transcription ID ENST00000371130
Start 124453419:124453419(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4001C>T
AA Mutation p.Ala1334Val(p.A1334V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 33
Mutation Consequence missense_variant
Transcription ID ENST00000371130
Start 124384554:124384554(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6356T>A
AA Mutation p.Ile2119Asn(p.I2119N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 34
Mutation Consequence missense_variant
Transcription ID ENST00000371130
Start 124405204:124405204(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs747195272
CDS Mutation c.5197G>A
AA Mutation p.Gly1733Arg(p.G1733R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 35
Mutation Consequence missense_variant
Transcription ID ENST00000371130
Start 124380649:124380649(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs369803028
CDS Mutation c.8065C>T
AA Mutation p.Arg2689Trp(p.R2689W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 36
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000371130
Start 124894352:124894352(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.479G>A
AA Mutation p.Gly160Asp(p.G160D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 37
Mutation Consequence missense_variant
Transcription ID ENST00000371130
Start 124523579:124523579(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs752145603
CDS Mutation c.2818G>A
AA Mutation p.Asp940Asn(p.D940N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 38
Mutation Consequence missense_variant
Transcription ID ENST00000371130
Start 124651932:124651932(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs764454665
CDS Mutation c.1561G>A
AA Mutation p.Val521Met(p.V521M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 39
Mutation Consequence synonymous_variant
Transcription ID ENST00000371130
Start 124384439:124384439(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6471G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 40
Mutation Consequence synonymous_variant
Transcription ID ENST00000371130
Start 124523580:124523580(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs746512976
CDS Mutation c.2817C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 41
Mutation Consequence synonymous_variant
Transcription ID ENST00000371130
Start 124453376:124453376(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4044A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 42
Mutation Consequence synonymous_variant
Transcription ID ENST00000371130
Start 124520599:124520599(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3219C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 43
Mutation Consequence synonymous_variant
Transcription ID ENST00000371130
Start 124422449:124422449(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4273C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 44
Mutation Consequence synonymous_variant
Transcription ID ENST00000371130
Start 124405229:124405229(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5172T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 45
Mutation Consequence synonymous_variant
Transcription ID ENST00000371130
Start 124497045:124497045(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs191352855
CDS Mutation c.3666G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 46
Mutation Consequence synonymous_variant
Transcription ID ENST00000371130
Start 124406444:124406444(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5007A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 47
Mutation Consequence synonymous_variant
Transcription ID ENST00000371130
Start 124385912:124385912(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs769274580
CDS Mutation c.5820G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 48
Mutation Consequence synonymous_variant
Transcription ID ENST00000371130
Start 124481841:124481841(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3819C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 49
Mutation Consequence synonymous_variant
Transcription ID ENST00000371130
Start 124963682:124963682(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.72C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 50
Mutation Consequence synonymous_variant
Transcription ID ENST00000371130
Start 124392289:124392289(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5430C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 51
Mutation Consequence synonymous_variant
Transcription ID ENST00000371130
Start 124453388:124453388(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4032T>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 52
Mutation Consequence synonymous_variant
Transcription ID ENST00000371130
Start 124737094:124737094(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs745707687
CDS Mutation c.639G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 53
Mutation Consequence synonymous_variant
Transcription ID ENST00000371130
Start 124705041:124705041(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.987T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 54
Mutation Consequence synonymous_variant
Transcription ID ENST00000371130
Start 124453400:124453400(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4020C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 55
Mutation Consequence frameshift_variant
Transcription ID ENST00000371130
Start 124497214:124497214(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.3497delC
AA Mutation p.Pro1166GlnfsTer6(p.P1166Qfs*6)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 56
Mutation Consequence frameshift_variant;splice_region_variant
Transcription ID ENST00000371130
Start 124671684:124671684(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.1167delA
AA Mutation p.Val390CysfsTer8(p.V390Cfs*8)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 57
Mutation Consequence frameshift_variant
Transcription ID ENST00000371130
Start 124392132:124392132(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.5587delA
AA Mutation p.Met1863TrpfsTer25(p.M1863Wfs*25)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 58
Mutation Consequence stop_gained
Transcription ID ENST00000371130
Start 124392237:124392237(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs756982022
CDS Mutation c.5482C>T
AA Mutation p.Arg1828Ter(p.R1828*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 59
Mutation Consequence stop_gained
Transcription ID ENST00000371130
Start 124384147:124384147(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6763C>T
AA Mutation p.Arg2255Ter(p.R2255*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 60
Mutation Consequence stop_gained
Transcription ID ENST00000371130
Start 124565498:124565498(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2140G>T
AA Mutation p.Glu714Ter(p.E714*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 61
Mutation Consequence stop_gained
Transcription ID ENST00000371130
Start 124520625:124520625(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3193C>T
AA Mutation p.Arg1065Ter(p.R1065*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 62
Mutation Consequence stop_gained;frameshift_variant
Transcription ID ENST00000371130
Start 124383787:124383788(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.7122_7123insTAGTTATTTT
AA Mutation p.Gln2375Ter(p.Q2375*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 63
Mutation Consequence frameshift_variant
Transcription ID ENST00000371130
Start 124422576:124422577(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.4145dupT
AA Mutation p.Leu1382PhefsTer3(p.L1382Ffs*3)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 64
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000371130
Start 124382813:124382813(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7277-1G>T
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 65
Mutation Consequence splice_donor_variant
Transcription ID ENST00000371130
Start 124671682:124671682(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1168+1G>A
Mutation Classification Splice_Site
Feature Type Transcript

Rectum Cancer: Gene >> TENM1

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000371130
Start 124381069:124381069(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs755183073
CDS Mutation c.7645C>T
AA Mutation p.Arg2549Trp(p.R2549W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000371130
Start 124380571:124380571(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8143C>T
AA Mutation p.His2715Tyr(p.H2715Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000371130
Start 124653765:124653765(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs146613496
CDS Mutation c.1187C>T
AA Mutation p.Ala396Val(p.A396V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000371130
Start 124497024:124497024(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3687G>T
AA Mutation p.Leu1229Phe(p.L1229F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000371130
Start 124420452:124420452(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4820T>C
AA Mutation p.Val1607Ala(p.V1607A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000371130
Start 124384137:124384137(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs372260419
CDS Mutation c.6773C>T
AA Mutation p.Ala2258Val(p.A2258V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000371130
Start 124383685:124383685(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7225G>A
AA Mutation p.Glu2409Lys(p.E2409K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000371130
Start 124384649:124384649(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6261A>T
AA Mutation p.Leu2087Phe(p.L2087F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000371130
Start 124565468:124565468(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs764858979
CDS Mutation c.2170C>T
AA Mutation p.Arg724Cys(p.R724C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000371130
Start 124420430:124420430(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4842C>A
AA Mutation p.Ser1614Arg(p.S1614R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000371130
Start 124380694:124380694(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8020A>G
AA Mutation p.Arg2674Gly(p.R2674G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000371130
Start 124381201:124381201(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs774434990
CDS Mutation c.7513C>T
AA Mutation p.Arg2505Trp(p.R2505W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000371130
Start 124386058:124386058(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5674A>G
AA Mutation p.Met1892Val(p.M1892V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000371130
Start 124381132:124381132(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7582T>G
AA Mutation p.Phe2528Val(p.F2528V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000371130
Start 124392128:124392128(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5591A>G
AA Mutation p.Glu1864Gly(p.E1864G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000371130
Start 124420672:124420672(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4600T>G
AA Mutation p.Tyr1534Asp(p.Y1534D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000371130
Start 124963677:124963677(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.77C>A
AA Mutation p.Ser26Tyr(p.S26Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence synonymous_variant
Transcription ID ENST00000371130
Start 124422387:124422387(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs371785558
CDS Mutation c.4335C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 19
Mutation Consequence synonymous_variant
Transcription ID ENST00000371130
Start 124381067:124381067(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7647G>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 20
Mutation Consequence synonymous_variant
Transcription ID ENST00000371130
Start 124645333:124645333(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1686C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 21
Mutation Consequence synonymous_variant
Transcription ID ENST00000371130
Start 124641843:124641843(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs754576547
CDS Mutation c.2025C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 22
Mutation Consequence synonymous_variant
Transcription ID ENST00000371130
Start 124565436:124565436(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2202C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 23
Mutation Consequence synonymous_variant
Transcription ID ENST00000371130
Start 124383770:124383770(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs767334788
CDS Mutation c.7140T>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 24
Mutation Consequence frameshift_variant
Transcription ID ENST00000371130
Start 124737101:124737101(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.632delC
AA Mutation p.Pro211LeufsTer11(p.P211Lfs*11)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 25
Mutation Consequence stop_gained
Transcription ID ENST00000371130
Start 124671788:124671788(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1063G>T
AA Mutation p.Glu355Ter(p.E355*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 26
Mutation Consequence stop_gained
Transcription ID ENST00000371130
Start 124497112:124497112(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3599T>G
AA Mutation p.Leu1200Ter(p.L1200*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript