Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> CHD7

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000423902
Start 60830562:60830562(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs764970349
CDS Mutation c.3763C>T
AA Mutation p.Pro1255Ser(p.P1255S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000423902
Start 60850597:60850597(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5509G>A
AA Mutation p.Asp1837Asn(p.D1837N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000423902
Start 60862259:60862259(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7894A>C
AA Mutation p.Asn2632His(p.N2632H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000423902
Start 60856030:60856030(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs747050794
CDS Mutation c.6992A>G
AA Mutation p.Lys2331Arg(p.K2331R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000423902
Start 60742367:60742367(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.935G>A
AA Mutation p.Arg312Gln(p.R312Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000423902
Start 60830334:60830334(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3535C>A
AA Mutation p.Gln1179Lys(p.Q1179K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000423902
Start 60856751:60856751(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs755492299
CDS Mutation c.7471C>T
AA Mutation p.Arg2491Cys(p.R2491C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000423902
Start 60741505:60741505(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs759887905
CDS Mutation c.73G>A
AA Mutation p.Gly25Arg(p.G25R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000423902
Start 60816500:60816500(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2612A>G
AA Mutation p.Glu871Gly(p.E871G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000423902
Start 60781301:60781301(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs776871277
CDS Mutation c.1967C>T
AA Mutation p.Pro656Leu(p.P656L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000423902
Start 60853077:60853077(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6352A>G
AA Mutation p.Asn2118Asp(p.N2118D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000423902
Start 60852847:60852847(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6122C>T
AA Mutation p.Ser2041Phe(p.S2041F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000423902
Start 60816461:60816461(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2573G>A
AA Mutation p.Arg858Gln(p.R858Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000423902
Start 60742160:60742160(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.728C>A
AA Mutation p.Pro243His(p.P243H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000423902
Start 60742893:60742893(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1461C>A
AA Mutation p.Asp487Glu(p.D487E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000423902
Start 60821842:60821842(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2750C>T
AA Mutation p.Thr917Met(p.T917M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000423902
Start 60837675:60837675(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4193C>T
AA Mutation p.Ala1398Val(p.A1398V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000423902
Start 60853012:60853012(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6287A>T
AA Mutation p.His2096Leu(p.H2096L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000423902
Start 60865742:60865742(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs745944842
CDS Mutation c.8803G>A
AA Mutation p.Glu2935Lys(p.E2935K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000423902
Start 60741745:60741745(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.313T>C
AA Mutation p.Tyr105His(p.Y105H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000423902
Start 60842013:60842013(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4811G>A
AA Mutation p.Ser1604Asn(p.S1604N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000423902
Start 60800449:60800449(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2300T>G
AA Mutation p.Ile767Ser(p.I767S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000423902
Start 60836938:60836938(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4111T>G
AA Mutation p.Leu1371Val(p.L1371V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 24
Mutation Consequence missense_variant
Transcription ID ENST00000423902
Start 60841977:60841977(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4775G>A
AA Mutation p.Arg1592Gln(p.R1592Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 25
Mutation Consequence missense_variant
Transcription ID ENST00000423902
Start 60856478:60856478(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs770959300
CDS Mutation c.7198C>T
AA Mutation p.Arg2400Trp(p.R2400W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 26
Mutation Consequence missense_variant
Transcription ID ENST00000423902
Start 60856652:60856652(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7372T>G
AA Mutation p.Phe2458Val(p.F2458V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 27
Mutation Consequence missense_variant
Transcription ID ENST00000423902
Start 60838200:60838200(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4478G>A
AA Mutation p.Arg1493His(p.R1493H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 28
Mutation Consequence missense_variant
Transcription ID ENST00000423902
Start 60742442:60742442(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1010A>C
AA Mutation p.Asn337Thr(p.N337T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 29
Mutation Consequence missense_variant
Transcription ID ENST00000423902
Start 60781142:60781142(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1808A>G
AA Mutation p.Asn603Ser(p.N603S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 30
Mutation Consequence missense_variant
Transcription ID ENST00000423902
Start 60836906:60836906(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4079T>G
AA Mutation p.Phe1360Cys(p.F1360C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 31
Mutation Consequence missense_variant
Transcription ID ENST00000423902
Start 60841650:60841650(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4540T>G
AA Mutation p.Phe1514Val(p.F1514V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 32
Mutation Consequence missense_variant
Transcription ID ENST00000423902
Start 60781156:60781156(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1822G>A
AA Mutation p.Ala608Thr(p.A608T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 33
Mutation Consequence missense_variant
Transcription ID ENST00000423902
Start 60856749:60856749(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs371595770
CDS Mutation c.7469C>T
AA Mutation p.Ser2490Leu(p.S2490L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 34
Mutation Consequence missense_variant
Transcription ID ENST00000423902
Start 60742219:60742219(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.787G>A
AA Mutation p.Ala263Thr(p.A263T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 35
Mutation Consequence missense_variant
Transcription ID ENST00000423902
Start 60836872:60836872(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4045A>G
AA Mutation p.Ile1349Val(p.I1349V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 36
Mutation Consequence missense_variant
Transcription ID ENST00000423902
Start 60841717:60841717(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4607A>G
AA Mutation p.Lys1536Arg(p.K1536R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 37
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000423902
Start 60853498:60853498(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6773A>G
AA Mutation p.Glu2258Gly(p.E2258G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 38
Mutation Consequence missense_variant
Transcription ID ENST00000423902
Start 60830473:60830473(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3674A>G
AA Mutation p.Asn1225Ser(p.N1225S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 39
Mutation Consequence missense_variant
Transcription ID ENST00000423902
Start 60852181:60852181(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs753723769
CDS Mutation c.5828G>A
AA Mutation p.Arg1943Gln(p.R1943Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 40
Mutation Consequence missense_variant
Transcription ID ENST00000423902
Start 60836867:60836867(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4040C>T
AA Mutation p.Ala1347Val(p.A1347V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 41
Mutation Consequence missense_variant
Transcription ID ENST00000423902
Start 60856167:60856167(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7129A>G
AA Mutation p.Ser2377Gly(p.S2377G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 42
Mutation Consequence synonymous_variant
Transcription ID ENST00000423902
Start 60742500:60742500(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1068C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 43
Mutation Consequence synonymous_variant
Transcription ID ENST00000423902
Start 60865900:60865900(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8961G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 44
Mutation Consequence synonymous_variant
Transcription ID ENST00000423902
Start 60743052:60743052(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1620C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 45
Mutation Consequence synonymous_variant
Transcription ID ENST00000423902
Start 60742662:60742662(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1230T>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 46
Mutation Consequence synonymous_variant
Transcription ID ENST00000423902
Start 60853418:60853418(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6693T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 47
Mutation Consequence synonymous_variant
Transcription ID ENST00000423902
Start 60856774:60856774(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7494T>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 48
Mutation Consequence synonymous_variant
Transcription ID ENST00000423902
Start 60741933:60741933(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs770348243
CDS Mutation c.501G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 49
Mutation Consequence synonymous_variant
Transcription ID ENST00000423902
Start 60742563:60742563(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1131C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 50
Mutation Consequence synonymous_variant
Transcription ID ENST00000423902
Start 60841733:60841733(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs754019726
CDS Mutation c.4623T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 51
Mutation Consequence synonymous_variant
Transcription ID ENST00000423902
Start 60852096:60852096(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5743C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 52
Mutation Consequence synonymous_variant
Transcription ID ENST00000423902
Start 60742521:60742521(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1089C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 53
Mutation Consequence synonymous_variant
Transcription ID ENST00000423902
Start 60837757:60837757(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs368919638
CDS Mutation c.4275C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 54
Mutation Consequence synonymous_variant
Transcription ID ENST00000423902
Start 60865078:60865078(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8139A>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 55
Mutation Consequence synonymous_variant
Transcription ID ENST00000423902
Start 60742998:60742998(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs759347960
CDS Mutation c.1566C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 56
Mutation Consequence synonymous_variant
Transcription ID ENST00000423902
Start 60742947:60742947(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1515G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 57
Mutation Consequence synonymous_variant
Transcription ID ENST00000423902
Start 60850608:60850608(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5520A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 58
Mutation Consequence frameshift_variant
Transcription ID ENST00000423902
Start 60865895:60865895(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.8962delG
AA Mutation p.Asp2988MetfsTer3(p.D2988Mfs*3)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 59
Mutation Consequence frameshift_variant
Transcription ID ENST00000423902
Start 60861054:60861054(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.7763delA
AA Mutation p.Asn2588IlefsTer4(p.N2588Ifs*4)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 60
Mutation Consequence frameshift_variant
Transcription ID ENST00000423902
Start 60781281:60781281(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.1953delA
AA Mutation p.Asp652ThrfsTer59(p.D652Tfs*59)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 61
Mutation Consequence frameshift_variant
Transcription ID ENST00000423902
Start 60822599:60822599(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.3059delT
AA Mutation p.Leu1020Ter(p.L1020*)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 62
Mutation Consequence stop_gained
Transcription ID ENST00000423902
Start 60816460:60816460(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2572C>T
AA Mutation p.Arg858Ter(p.R858*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 63
Mutation Consequence stop_gained
Transcription ID ENST00000423902
Start 60742547:60742547(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1115C>A
AA Mutation p.Ser372Ter(p.S372*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 64
Mutation Consequence stop_gained;splice_region_variant
Transcription ID ENST00000423902
Start 60822504:60822504(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2959C>T
AA Mutation p.Arg987Ter(p.R987*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 65
Mutation Consequence frameshift_variant
Transcription ID ENST00000423902
Start 60742022:60742023(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.595dupT
AA Mutation p.Ser199PhefsTer88(p.S199Ffs*88)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 66
Mutation Consequence frameshift_variant
Transcription ID ENST00000423902
Start 60853406:60853407(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.6681_6682insTTGCCTTC
AA Mutation p.Gly2228LeufsTer52(p.G2228Lfs*52)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 67
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000423902
Start 60850491:60850491(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5405-2A>C
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 68
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000423902
Start 60850492:60850492(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5405-1G>T
Mutation Classification Splice_Site
Feature Type Transcript

Rectum Cancer: Gene >> CHD7

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000423902
Start 60856784:60856784(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7504C>G
AA Mutation p.Leu2502Val(p.L2502V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000423902
Start 60865206:60865206(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8267C>G
AA Mutation p.Thr2756Arg(p.T2756R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000423902
Start 60865456:60865456(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8517C>G
AA Mutation p.Ser2839Arg(p.S2839R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000423902
Start 60823892:60823892(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3254A>G
AA Mutation p.Glu1085Gly(p.E1085G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000423902
Start 60781125:60781125(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1791G>T
AA Mutation p.Lys597Asn(p.K597N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000423902
Start 60865533:60865533(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs147534616
CDS Mutation c.8594C>T
AA Mutation p.Ser2865Leu(p.S2865L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence synonymous_variant
Transcription ID ENST00000423902
Start 60865027:60865027(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8088T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 8
Mutation Consequence synonymous_variant
Transcription ID ENST00000423902
Start 60822596:60822596(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3051C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 9
Mutation Consequence stop_gained
Transcription ID ENST00000423902
Start 60781216:60781216(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1882G>T
AA Mutation p.Glu628Ter(p.E628*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript