Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> RYR1

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000359596
Start 38525441:38525441(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.10565T>G
AA Mutation p.Leu3522Arg(p.L3522R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000359596
Start 38451813:38451813(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs769387053
CDS Mutation c.1172G>A
AA Mutation p.Arg391His(p.R391H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000359596
Start 38457557:38457557(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1852G>T
AA Mutation p.Asp618Tyr(p.D618Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000359596
Start 38512358:38512358(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs200238436
CDS Mutation c.9347C>T
AA Mutation p.Ser3116Leu(p.S3116L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000359596
Start 38460502:38460502(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs142548565
CDS Mutation c.2488C>T
AA Mutation p.Arg830Trp(p.R830W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000359596
Start 38517473:38517473(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs200375946
CDS Mutation c.9800C>T
AA Mutation p.Pro3267Leu(p.P3267L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000359596
Start 38448432:38448432(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.878C>A
AA Mutation p.Thr293Asn(p.T293N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000359596
Start 38519285:38519285(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.10090C>T
AA Mutation p.Arg3364Trp(p.R3364W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000359596
Start 38525372:38525372(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.10496G>A
AA Mutation p.Arg3499Gln(p.R3499Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000359596
Start 38512129:38512129(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.9230C>T
AA Mutation p.Ala3077Val(p.A3077V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000359596
Start 38528355:38528355(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.10874C>T
AA Mutation p.Ser3625Phe(p.S3625F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000359596
Start 38567816:38567816(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.13558G>A
AA Mutation p.Glu4520Lys(p.E4520K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000359596
Start 38525453:38525453(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs374061380
CDS Mutation c.10577C>T
AA Mutation p.Ala3526Val(p.A3526V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000359596
Start 38505052:38505052(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8281T>C
AA Mutation p.Tyr2761His(p.Y2761H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000359596
Start 38473605:38473605(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3994G>A
AA Mutation p.Glu1332Lys(p.E1332K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000359596
Start 38499237:38499237(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs767615522
CDS Mutation c.7021G>A
AA Mutation p.Val2341Ile(p.V2341I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000359596
Start 38517397:38517397(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9724G>A
AA Mutation p.Asp3242Asn(p.D3242N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000359596
Start 38467646:38467646(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs757261781
CDS Mutation c.3215G>A
AA Mutation p.Arg1072His(p.R1072H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000359596
Start 38490194:38490194(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5933G>A
AA Mutation p.Gly1978Asp(p.G1978D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000359596
Start 38460407:38460407(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2393A>G
AA Mutation p.Glu798Gly(p.E798G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000359596
Start 38467662:38467662(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3231G>T
AA Mutation p.Glu1077Asp(p.E1077D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000359596
Start 38517521:38517521(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs757753317
CDS Mutation c.9848G>A
AA Mutation p.Arg3283Gln(p.R3283Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000359596
Start 38502670:38502670(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs751180702
CDS Mutation c.7778G>A
AA Mutation p.Arg2593His(p.R2593H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 24
Mutation Consequence missense_variant
Transcription ID ENST00000359596
Start 38507789:38507789(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8894G>A
AA Mutation p.Arg2965His(p.R2965H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 25
Mutation Consequence missense_variant
Transcription ID ENST00000359596
Start 38473615:38473615(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs750256869
CDS Mutation c.4004G>A
AA Mutation p.Arg1335His(p.R1335H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 26
Mutation Consequence missense_variant
Transcription ID ENST00000359596
Start 38460565:38460565(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs375669412
CDS Mutation c.2551G>A
AA Mutation p.Val851Met(p.V851M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 27
Mutation Consequence missense_variant
Transcription ID ENST00000359596
Start 38584982:38584982(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.14686G>A
AA Mutation p.Gly4896Arg(p.G4896R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 28
Mutation Consequence missense_variant
Transcription ID ENST00000359596
Start 38585021:38585021(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs780237633
CDS Mutation c.14725G>A
AA Mutation p.Glu4909Lys(p.E4909K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 29
Mutation Consequence missense_variant
Transcription ID ENST00000359596
Start 38512343:38512343(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs201145095
CDS Mutation c.9332G>A
AA Mutation p.Arg3111Gln(p.R3111Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 30
Mutation Consequence missense_variant
Transcription ID ENST00000359596
Start 38467693:38467693(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3262T>C
AA Mutation p.Tyr1088His(p.Y1088H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 31
Mutation Consequence missense_variant
Transcription ID ENST00000359596
Start 38529026:38529026(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.11110C>G
AA Mutation p.His3704Asp(p.H3704D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 32
Mutation Consequence missense_variant
Transcription ID ENST00000359596
Start 38452940:38452940(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1366G>A
AA Mutation p.Glu456Lys(p.E456K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 33
Mutation Consequence missense_variant
Transcription ID ENST00000359596
Start 38500927:38500927(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7551C>A
AA Mutation p.Phe2517Leu(p.F2517L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 34
Mutation Consequence missense_variant
Transcription ID ENST00000359596
Start 38573186:38573186(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.14008G>A
AA Mutation p.Val4670Ile(p.V4670I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 35
Mutation Consequence missense_variant
Transcription ID ENST00000359596
Start 38494496:38494496(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs755809627
CDS Mutation c.6419G>A
AA Mutation p.Arg2140Gln(p.R2140Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 36
Mutation Consequence missense_variant
Transcription ID ENST00000359596
Start 38566944:38566944(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.13471C>T
AA Mutation p.Pro4491Ser(p.P4491S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 37
Mutation Consequence missense_variant
Transcription ID ENST00000359596
Start 38502571:38502571(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7679C>T
AA Mutation p.Pro2560Leu(p.P2560L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 38
Mutation Consequence missense_variant
Transcription ID ENST00000359596
Start 38463498:38463498(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs775256033
CDS Mutation c.2653C>T
AA Mutation p.Arg885Cys(p.R885C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 39
Mutation Consequence missense_variant
Transcription ID ENST00000359596
Start 38528363:38528363(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10882C>T
AA Mutation p.Arg3628Cys(p.R3628C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 40
Mutation Consequence missense_variant
Transcription ID ENST00000359596
Start 38448482:38448482(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.928G>A
AA Mutation p.Ala310Thr(p.A310T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 41
Mutation Consequence missense_variant
Transcription ID ENST00000359596
Start 38505882:38505882(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8477C>T
AA Mutation p.Ala2826Val(p.A2826V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 42
Mutation Consequence missense_variant
Transcription ID ENST00000359596
Start 38585069:38585069(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.14773G>A
AA Mutation p.Val4925Ile(p.V4925I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 43
Mutation Consequence missense_variant
Transcription ID ENST00000359596
Start 38466381:38466381(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3161C>A
AA Mutation p.Pro1054His(p.P1054H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 44
Mutation Consequence missense_variant
Transcription ID ENST00000359596
Start 38506352:38506352(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs748187342
CDS Mutation c.8591C>T
AA Mutation p.Ala2864Val(p.A2864V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 45
Mutation Consequence missense_variant
Transcription ID ENST00000359596
Start 38473476:38473476(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs377185497
CDS Mutation c.3865C>T
AA Mutation p.Arg1289Trp(p.R1289W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 46
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000359596
Start 38580503:38580503(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs193922884
CDS Mutation c.14645C>T
AA Mutation p.Thr4882Met(p.T4882M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 47
Mutation Consequence missense_variant
Transcription ID ENST00000359596
Start 38483339:38483339(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4757C>A
AA Mutation p.Pro1586Gln(p.P1586Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 48
Mutation Consequence missense_variant
Transcription ID ENST00000359596
Start 38502573:38502573(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7681C>T
AA Mutation p.Leu2561Phe(p.L2561F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 49
Mutation Consequence missense_variant
Transcription ID ENST00000359596
Start 38448501:38448501(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs193922761
CDS Mutation c.947G>A
AA Mutation p.Arg316His(p.R316H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 50
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000359596
Start 38499635:38499635(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7028G>T
AA Mutation p.Gly2343Val(p.G2343V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 51
Mutation Consequence missense_variant
Transcription ID ENST00000359596
Start 38517565:38517565(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs544339193
CDS Mutation c.9892G>A
AA Mutation p.Ala3298Thr(p.A3298T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 52
Mutation Consequence missense_variant
Transcription ID ENST00000359596
Start 38499814:38499814(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7207C>T
AA Mutation p.Arg2403Cys(p.R2403C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 53
Mutation Consequence missense_variant
Transcription ID ENST00000359596
Start 38485777:38485777(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5122G>A
AA Mutation p.Ala1708Thr(p.A1708T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 54
Mutation Consequence missense_variant
Transcription ID ENST00000359596
Start 38523063:38523063(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.10295A>C
AA Mutation p.Glu3432Ala(p.E3432A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 55
Mutation Consequence missense_variant
Transcription ID ENST00000359596
Start 38448450:38448450(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.896T>C
AA Mutation p.Val299Ala(p.V299A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 56
Mutation Consequence missense_variant
Transcription ID ENST00000359596
Start 38485619:38485619(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs781159223
CDS Mutation c.4964G>A
AA Mutation p.Arg1655His(p.R1655H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 57
Mutation Consequence missense_variant
Transcription ID ENST00000359596
Start 38466348:38466348(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs374776563
CDS Mutation c.3128G>A
AA Mutation p.Arg1043His(p.R1043H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 58
Mutation Consequence missense_variant
Transcription ID ENST00000359596
Start 38469107:38469107(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs769744438
CDS Mutation c.3523G>A
AA Mutation p.Glu1175Lys(p.E1175K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 59
Mutation Consequence missense_variant
Transcription ID ENST00000359596
Start 38468973:38468973(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3389G>C
AA Mutation p.Arg1130Pro(p.R1130P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 60
Mutation Consequence missense_variant
Transcription ID ENST00000359596
Start 38505913:38505913(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8508G>T
AA Mutation p.Lys2836Asn(p.K2836N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 61
Mutation Consequence missense_variant
Transcription ID ENST00000359596
Start 38519424:38519424(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs769196275
CDS Mutation c.10229C>T
AA Mutation p.Pro3410Leu(p.P3410L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 62
Mutation Consequence missense_variant
Transcription ID ENST00000359596
Start 38525396:38525396(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs371839408
CDS Mutation c.10520C>T
AA Mutation p.Thr3507Met(p.T3507M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 63
Mutation Consequence missense_variant
Transcription ID ENST00000359596
Start 38448799:38448799(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs537344365
CDS Mutation c.1108G>A
AA Mutation p.Val370Met(p.V370M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 64
Mutation Consequence missense_variant
Transcription ID ENST00000359596
Start 38458190:38458190(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs144845360
CDS Mutation c.2065G>A
AA Mutation p.Glu689Lys(p.E689K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 65
Mutation Consequence missense_variant
Transcription ID ENST00000359596
Start 38492547:38492547(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs368235923
CDS Mutation c.6185G>A
AA Mutation p.Arg2062His(p.R2062H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 66
Mutation Consequence missense_variant
Transcription ID ENST00000359596
Start 38585012:38585012(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.14716G>A
AA Mutation p.Ala4906Thr(p.A4906T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 67
Mutation Consequence missense_variant
Transcription ID ENST00000359596
Start 38485831:38485831(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5176C>T
AA Mutation p.Arg1726Cys(p.R1726C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 68
Mutation Consequence missense_variant
Transcription ID ENST00000359596
Start 38499996:38499996(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7303C>T
AA Mutation p.Arg2435Cys(p.R2435C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 69
Mutation Consequence missense_variant
Transcription ID ENST00000359596
Start 38502589:38502589(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7697C>T
AA Mutation p.Ala2566Val(p.A2566V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 70
Mutation Consequence missense_variant
Transcription ID ENST00000359596
Start 38527017:38527017(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs753260772
CDS Mutation c.10651G>A
AA Mutation p.Glu3551Lys(p.E3551K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 71
Mutation Consequence missense_variant
Transcription ID ENST00000359596
Start 38455260:38455260(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1466G>T
AA Mutation p.Cys489Phe(p.C489F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 72
Mutation Consequence missense_variant
Transcription ID ENST00000359596
Start 38490634:38490634(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6029T>C
AA Mutation p.Leu2010Ser(p.L2010S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 73
Mutation Consequence missense_variant
Transcription ID ENST00000359596
Start 38473683:38473683(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4072G>C
AA Mutation p.Gly1358Arg(p.G1358R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 74
Mutation Consequence missense_variant
Transcription ID ENST00000359596
Start 38570619:38570619(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs771741606
CDS Mutation c.13672C>T
AA Mutation p.Arg4558Trp(p.R4558W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 75
Mutation Consequence missense_variant
Transcription ID ENST00000359596
Start 38532710:38532710(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.11233G>C
AA Mutation p.Glu3745Gln(p.E3745Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 76
Mutation Consequence synonymous_variant
Transcription ID ENST00000359596
Start 38485989:38485989(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs35566549
CDS Mutation c.5334G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 77
Mutation Consequence synonymous_variant
Transcription ID ENST00000359596
Start 38585020:38585020(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs756511525
CDS Mutation c.14724C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 78
Mutation Consequence synonymous_variant
Transcription ID ENST00000359596
Start 38489194:38489194(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs61750975
CDS Mutation c.5565C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 79
Mutation Consequence synonymous_variant
Transcription ID ENST00000359596
Start 38490093:38490093(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5832G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 80
Mutation Consequence synonymous_variant
Transcription ID ENST00000359596
Start 38586114:38586114(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs2302297
CDS Mutation c.14892C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 81
Mutation Consequence synonymous_variant
Transcription ID ENST00000359596
Start 38580441:38580441(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs755854964
CDS Mutation c.14583C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 82
Mutation Consequence synonymous_variant
Transcription ID ENST00000359596
Start 38532682:38532682(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11205G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 83
Mutation Consequence synonymous_variant
Transcription ID ENST00000359596
Start 38489362:38489362(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5733G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 84
Mutation Consequence synonymous_variant
Transcription ID ENST00000359596
Start 38561187:38561187(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.12357C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 85
Mutation Consequence synonymous_variant
Transcription ID ENST00000359596
Start 38502895:38502895(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs745334519
CDS Mutation c.7851G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 86
Mutation Consequence synonymous_variant
Transcription ID ENST00000359596
Start 38485869:38485869(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5214G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 87
Mutation Consequence synonymous_variant
Transcription ID ENST00000359596
Start 38529049:38529049(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs368980166
CDS Mutation c.11133G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 88
Mutation Consequence synonymous_variant
Transcription ID ENST00000359596
Start 38466313:38466313(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs748021486
CDS Mutation c.3093G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 89
Mutation Consequence synonymous_variant
Transcription ID ENST00000359596
Start 38494377:38494377(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs758140159
CDS Mutation c.6300C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 90
Mutation Consequence synonymous_variant
Transcription ID ENST00000359596
Start 38561253:38561253(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.12423C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 91
Mutation Consequence synonymous_variant
Transcription ID ENST00000359596
Start 38561211:38561211(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.12381C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 92
Mutation Consequence synonymous_variant
Transcription ID ENST00000359596
Start 38459258:38459258(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2280C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 93
Mutation Consequence synonymous_variant
Transcription ID ENST00000359596
Start 38485930:38485930(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5275C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 94
Mutation Consequence synonymous_variant
Transcription ID ENST00000359596
Start 38473700:38473700(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4089G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 95
Mutation Consequence synonymous_variant
Transcription ID ENST00000359596
Start 38463521:38463521(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs375402078
CDS Mutation c.2676C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 96
Mutation Consequence synonymous_variant
Transcription ID ENST00000359596
Start 38546516:38546516(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs571477269
CDS Mutation c.12084G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 97
Mutation Consequence synonymous_variant
Transcription ID ENST00000359596
Start 38572138:38572138(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs370369058
CDS Mutation c.13866C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 98
Mutation Consequence synonymous_variant
Transcription ID ENST00000359596
Start 38546459:38546459(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs749580913
CDS Mutation c.12027C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 99
Mutation Consequence synonymous_variant
Transcription ID ENST00000359596
Start 38473583:38473583(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs200451188
CDS Mutation c.3972G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 100
Mutation Consequence synonymous_variant
Transcription ID ENST00000359596
Start 38452837:38452837(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1263C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 101
Mutation Consequence synonymous_variant
Transcription ID ENST00000359596
Start 38486007:38486007(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5352C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 102
Mutation Consequence synonymous_variant
Transcription ID ENST00000359596
Start 38527694:38527694(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.10734C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 103
Mutation Consequence synonymous_variant
Transcription ID ENST00000359596
Start 38473391:38473391(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3780C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 104
Mutation Consequence synonymous_variant
Transcription ID ENST00000359596
Start 38486118:38486118(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs753150627
CDS Mutation c.5463C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 105
Mutation Consequence synonymous_variant
Transcription ID ENST00000359596
Start 38517555:38517555(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs142610625
CDS Mutation c.9882C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 106
Mutation Consequence synonymous_variant
Transcription ID ENST00000359596
Start 38483377:38483377(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4795C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 107
Mutation Consequence synonymous_variant
Transcription ID ENST00000359596
Start 38466241:38466241(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs143891703
CDS Mutation c.3021C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 108
Mutation Consequence synonymous_variant
Transcription ID ENST00000359596
Start 38452864:38452864(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs748936965
CDS Mutation c.1290C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 109
Mutation Consequence synonymous_variant
Transcription ID ENST00000359596
Start 38586135:38586135(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs376180682
CDS Mutation c.14913G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 110
Mutation Consequence synonymous_variant
Transcription ID ENST00000359596
Start 38451793:38451793(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs149770144
CDS Mutation c.1152C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 111
Mutation Consequence synonymous_variant
Transcription ID ENST00000359596
Start 38463845:38463845(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs762155957
CDS Mutation c.2781G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 112
Mutation Consequence synonymous_variant
Transcription ID ENST00000359596
Start 38469004:38469004(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs201599911
CDS Mutation c.3420C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 113
Mutation Consequence synonymous_variant
Transcription ID ENST00000359596
Start 38505856:38505856(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8451T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 114
Mutation Consequence synonymous_variant
Transcription ID ENST00000359596
Start 38512272:38512272(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs56338790
CDS Mutation c.9261C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 115
Mutation Consequence synonymous_variant
Transcription ID ENST00000359596
Start 38463773:38463773(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2709C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 116
Mutation Consequence synonymous_variant
Transcription ID ENST00000359596
Start 38565039:38565039(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.12705T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 117
Mutation Consequence synonymous_variant
Transcription ID ENST00000359596
Start 38561433:38561433(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.12603C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 118
Mutation Consequence synonymous_variant
Transcription ID ENST00000359596
Start 38433853:38433853(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.24C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 119
Mutation Consequence synonymous_variant
Transcription ID ENST00000359596
Start 38458231:38458231(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs772295428
CDS Mutation c.2106C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 120
Mutation Consequence frameshift_variant
Transcription ID ENST00000359596
Start 38473407:38473407(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.3801delC
AA Mutation p.Cys1268AlafsTer4(p.C1268Afs*4)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 121
Mutation Consequence frameshift_variant
Transcription ID ENST00000359596
Start 38446709:38446709(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.746delG
AA Mutation p.Gly249GlufsTer16(p.G249Efs*16)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 122
Mutation Consequence frameshift_variant
Transcription ID ENST00000359596
Start 38504811:38504811(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.8136delC
AA Mutation p.Asp2713ThrfsTer33(p.D2713Tfs*33)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 123
Mutation Consequence stop_gained
Transcription ID ENST00000359596
Start 38466266:38466266(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs759085500
CDS Mutation c.3046C>T
AA Mutation p.Arg1016Ter(p.R1016*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 124
Mutation Consequence stop_gained
Transcription ID ENST00000359596
Start 38535382:38535382(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11506C>T
AA Mutation p.Gln3836Ter(p.Q3836*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 125
Mutation Consequence frameshift_variant
Transcription ID ENST00000359596
Start 38517571:38517572(version: GRCh38)
Mutation Type INS
dbSNP_RS rs749656679
CDS Mutation c.9905dupC
AA Mutation p.Pro3303ThrfsTer8(p.P3303Tfs*8)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 126
Mutation Consequence splice_donor_variant
Transcription ID ENST00000359596
Start 38573308:38573308(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs142929172
CDS Mutation c.14129+1G>A
Mutation Classification Splice_Site
Feature Type Transcript

Rectum Cancer: Gene >> RYR1

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000359596
Start 38492613:38492613(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs143681974
CDS Mutation c.6251G>A
AA Mutation p.Arg2084Gln(p.R2084Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000359596
Start 38580091:38580091(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs193922875
CDS Mutation c.14474G>A
AA Mutation p.Arg4825His(p.R4825H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000359596
Start 38485826:38485826(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs372800648
CDS Mutation c.5171G>A
AA Mutation p.Arg1724His(p.R1724H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000359596
Start 38490636:38490636(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6031C>A
AA Mutation p.Gln2011Lys(p.Q2011K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000359596
Start 38446561:38446561(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs751622747
CDS Mutation c.721C>T
AA Mutation p.Arg241Cys(p.R241C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000359596
Start 38499229:38499229(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7013C>A
AA Mutation p.Ala2338Asp(p.A2338D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000359596
Start 38512101:38512101(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.9202C>A
AA Mutation p.Leu3068Ile(p.L3068I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000359596
Start 38517518:38517518(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9845C>A
AA Mutation p.Pro3282His(p.P3282H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000359596
Start 38496469:38496469(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6724A>G
AA Mutation p.Ile2242Val(p.I2242V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000359596
Start 38580085:38580085(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs148540135
CDS Mutation c.14468C>T
AA Mutation p.Thr4823Met(p.T4823M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000359596
Start 38490181:38490181(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs779733902
CDS Mutation c.5920C>T
AA Mutation p.Arg1974Trp(p.R1974W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000359596
Start 38536767:38536767(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11608G>A
AA Mutation p.Gly3870Arg(p.G3870R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000359596
Start 38515088:38515088(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9535A>G
AA Mutation p.Lys3179Glu(p.K3179E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000359596
Start 38572206:38572206(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs193922860
CDS Mutation c.13934G>A
AA Mutation p.Arg4645Gln(p.R4645Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000359596
Start 38510710:38510710(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9051C>A
AA Mutation p.Phe3017Leu(p.F3017L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000359596
Start 38573183:38573183(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.14005C>A
AA Mutation p.Leu4669Met(p.L4669M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000359596
Start 38460559:38460559(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs200893443
CDS Mutation c.2545G>A
AA Mutation p.Asp849Asn(p.D849N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000359596
Start 38469431:38469431(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3683A>C
AA Mutation p.Asn1228Thr(p.N1228T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000359596
Start 38505345:38505345(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8347G>A
AA Mutation p.Glu2783Lys(p.E2783K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000359596
Start 38467789:38467789(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3358G>T
AA Mutation p.Ala1120Ser(p.A1120S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 21
Mutation Consequence synonymous_variant
Transcription ID ENST00000359596
Start 38561211:38561211(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.12381C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 22
Mutation Consequence synonymous_variant
Transcription ID ENST00000359596
Start 38466262:38466262(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs2228074
CDS Mutation c.3042G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 23
Mutation Consequence synonymous_variant
Transcription ID ENST00000359596
Start 38486136:38486136(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5481C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 24
Mutation Consequence synonymous_variant
Transcription ID ENST00000359596
Start 38485674:38485674(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs543026464
CDS Mutation c.5019C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 25
Mutation Consequence synonymous_variant
Transcription ID ENST00000359596
Start 38463521:38463521(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs375402078
CDS Mutation c.2676C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 26
Mutation Consequence synonymous_variant
Transcription ID ENST00000359596
Start 38475426:38475426(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs2229141
CDS Mutation c.4269C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 27
Mutation Consequence synonymous_variant
Transcription ID ENST00000359596
Start 38463491:38463491(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs375163703
CDS Mutation c.2646G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 28
Mutation Consequence synonymous_variant
Transcription ID ENST00000359596
Start 38485977:38485977(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs572516017
CDS Mutation c.5322G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 29
Mutation Consequence synonymous_variant
Transcription ID ENST00000359596
Start 38452918:38452918(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1344C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 30
Mutation Consequence synonymous_variant
Transcription ID ENST00000359596
Start 38466376:38466376(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs368131832
CDS Mutation c.3156C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 31
Mutation Consequence synonymous_variant
Transcription ID ENST00000359596
Start 38523085:38523085(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10317C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 32
Mutation Consequence synonymous_variant
Transcription ID ENST00000359596
Start 38467788:38467788(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3357G>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 33
Mutation Consequence frameshift_variant
Transcription ID ENST00000359596
Start 38458227:38458227(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.2105delG
AA Mutation p.Gly702AlafsTer28(p.G702Afs*28)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 34
Mutation Consequence frameshift_variant
Transcription ID ENST00000359596
Start 38517572:38517572(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.9905delC
AA Mutation p.Pro3302HisfsTer19(p.P3302Hfs*19)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 35
Mutation Consequence stop_gained
Transcription ID ENST00000359596
Start 38489426:38489426(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs183999225
CDS Mutation c.5797G>T
AA Mutation p.Glu1933Ter(p.E1933*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript