Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> GRIN2A

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000330684
Start 9764392:9764392(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3152A>G
AA Mutation p.Tyr1051Cys(p.Y1051C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000330684
Start 9764375:9764375(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3169G>A
AA Mutation p.Ala1057Thr(p.A1057T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000330684
Start 9840706:9840706(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs397518468
CDS Mutation c.1592C>T
AA Mutation p.Thr531Met(p.T531M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000330684
Start 9764729:9764729(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2815G>A
AA Mutation p.Gly939Arg(p.G939R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000330684
Start 9891086:9891086(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1022T>C
AA Mutation p.Val341Ala(p.V341A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000330684
Start 9763295:9763295(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs369508378
CDS Mutation c.4249C>T
AA Mutation p.Arg1417Trp(p.R1417W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000330684
Start 9798307:9798307(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2326G>T
AA Mutation p.Asp776Tyr(p.D776Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000330684
Start 9763373:9763373(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4171T>G
AA Mutation p.Leu1391Val(p.L1391V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000330684
Start 9764660:9764660(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2884G>A
AA Mutation p.Glu962Lys(p.E962K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000330684
Start 9763681:9763681(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs778951185
CDS Mutation c.3863G>A
AA Mutation p.Arg1288His(p.R1288H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000330684
Start 9798436:9798436(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs796052550
CDS Mutation c.2197G>A
AA Mutation p.Ala733Thr(p.A733T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000330684
Start 9938380:9938380(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.586G>A
AA Mutation p.Val196Met(p.V196M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000330684
Start 9890994:9890994(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1114T>C
AA Mutation p.Trp372Arg(p.W372R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000330684
Start 9764789:9764789(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2755A>G
AA Mutation p.Lys919Glu(p.K919E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000330684
Start 9764197:9764197(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3347A>C
AA Mutation p.Lys1116Thr(p.K1116T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000330684
Start 9822414:9822414(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2018C>A
AA Mutation p.Pro673His(p.P673H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000330684
Start 9764524:9764524(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3020A>G
AA Mutation p.Asn1007Ser(p.N1007S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000330684
Start 9764435:9764435(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3109G>A
AA Mutation p.Ala1037Thr(p.A1037T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000330684
Start 9938172:9938172(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs747214620
CDS Mutation c.794C>T
AA Mutation p.Thr265Met(p.T265M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000330684
Start 10180264:10180264(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.148G>A
AA Mutation p.Glu50Lys(p.E50K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000330684
Start 9829518:9829518(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1912G>A
AA Mutation p.Ala638Thr(p.A638T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000330684
Start 9798301:9798301(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2332G>A
AA Mutation p.Ala778Thr(p.A778T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000330684
Start 9764053:9764053(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3491C>T
AA Mutation p.Thr1164Met(p.T1164M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 24
Mutation Consequence missense_variant
Transcription ID ENST00000330684
Start 10180117:10180117(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.295G>A
AA Mutation p.Val99Met(p.V99M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 25
Mutation Consequence missense_variant
Transcription ID ENST00000330684
Start 10180233:10180233(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs758117698
CDS Mutation c.179C>T
AA Mutation p.Ala60Val(p.A60V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 26
Mutation Consequence missense_variant
Transcription ID ENST00000330684
Start 9763682:9763682(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3862C>T
AA Mutation p.Arg1288Cys(p.R1288C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 27
Mutation Consequence missense_variant
Transcription ID ENST00000330684
Start 9764728:9764728(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2816G>T
AA Mutation p.Gly939Val(p.G939V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 28
Mutation Consequence missense_variant
Transcription ID ENST00000330684
Start 9764068:9764068(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs534440095
CDS Mutation c.3476G>A
AA Mutation p.Arg1159His(p.R1159H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 29
Mutation Consequence missense_variant
Transcription ID ENST00000330684
Start 9829617:9829617(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1813A>G
AA Mutation p.Ile605Val(p.I605V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 30
Mutation Consequence missense_variant
Transcription ID ENST00000330684
Start 9834125:9834125(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1757G>T
AA Mutation p.Arg586Ile(p.R586I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 31
Mutation Consequence missense_variant
Transcription ID ENST00000330684
Start 9763822:9763822(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3722G>A
AA Mutation p.Arg1241Gln(p.R1241Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 32
Mutation Consequence missense_variant
Transcription ID ENST00000330684
Start 10180240:10180240(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs143833346
CDS Mutation c.172G>A
AA Mutation p.Glu58Lys(p.E58K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 33
Mutation Consequence missense_variant
Transcription ID ENST00000330684
Start 9764881:9764881(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs149698593
CDS Mutation c.2663C>T
AA Mutation p.Thr888Met(p.T888M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 34
Mutation Consequence missense_variant
Transcription ID ENST00000330684
Start 9763189:9763189(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs774039446
CDS Mutation c.4355G>A
AA Mutation p.Arg1452His(p.R1452H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 35
Mutation Consequence missense_variant
Transcription ID ENST00000330684
Start 9834215:9834215(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1667C>A
AA Mutation p.Ser556Tyr(p.S556Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 36
Mutation Consequence synonymous_variant
Transcription ID ENST00000330684
Start 9763953:9763953(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3591T>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 37
Mutation Consequence synonymous_variant
Transcription ID ENST00000330684
Start 9841008:9841008(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs774228933
CDS Mutation c.1425C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 38
Mutation Consequence synonymous_variant
Transcription ID ENST00000330684
Start 9763503:9763503(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4041T>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 39
Mutation Consequence synonymous_variant
Transcription ID ENST00000330684
Start 9764304:9764304(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3240C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 40
Mutation Consequence synonymous_variant
Transcription ID ENST00000330684
Start 9849833:9849833(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs139329447
CDS Mutation c.1251C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 41
Mutation Consequence synonymous_variant
Transcription ID ENST00000330684
Start 9938285:9938285(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.681C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 42
Mutation Consequence synonymous_variant
Transcription ID ENST00000330684
Start 10180106:10180106(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs200850130
CDS Mutation c.306C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 43
Mutation Consequence synonymous_variant
Transcription ID ENST00000330684
Start 9764001:9764001(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs369551956
CDS Mutation c.3543C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 44
Mutation Consequence synonymous_variant
Transcription ID ENST00000330684
Start 9798437:9798437(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2196C>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 45
Mutation Consequence synonymous_variant
Transcription ID ENST00000330684
Start 10180265:10180265(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.147C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 46
Mutation Consequence synonymous_variant
Transcription ID ENST00000330684
Start 9938498:9938498(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs773513210
CDS Mutation c.468G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 47
Mutation Consequence synonymous_variant
Transcription ID ENST00000330684
Start 9763626:9763626(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3918G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 48
Mutation Consequence synonymous_variant
Transcription ID ENST00000330684
Start 10180268:10180268(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.144G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 49
Mutation Consequence synonymous_variant
Transcription ID ENST00000330684
Start 9849806:9849806(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1278C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 50
Mutation Consequence synonymous_variant
Transcription ID ENST00000330684
Start 9769031:9769031(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs777235967
CDS Mutation c.2415C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 51
Mutation Consequence synonymous_variant
Transcription ID ENST00000330684
Start 9763164:9763164(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs769629103
CDS Mutation c.4380C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 52
Mutation Consequence synonymous_variant
Transcription ID ENST00000330684
Start 9763668:9763668(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs749688882
CDS Mutation c.3876C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 53
Mutation Consequence synonymous_variant
Transcription ID ENST00000330684
Start 9764241:9764241(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs774772499
CDS Mutation c.3303C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 54
Mutation Consequence frameshift_variant
Transcription ID ENST00000330684
Start 9849811:9849811(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.1273delC
AA Mutation p.Leu425Ter(p.L425*)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 55
Mutation Consequence frameshift_variant
Transcription ID ENST00000330684
Start 9763523:9763523(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.4021delA
AA Mutation p.Ser1341AlafsTer56(p.S1341Afs*56)
Mutation Classification Frame_Shift_Del
Feature Type Transcript

Rectum Cancer: Gene >> GRIN2A

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000330684
Start 9938077:9938077(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.889G>A
AA Mutation p.Gly297Ser(p.G297S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000330684
Start 9764683:9764683(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2861G>A
AA Mutation p.Ser954Asn(p.S954N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000330684
Start 9769034:9769034(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2412G>T
AA Mutation p.Lys804Asn(p.K804N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000330684
Start 9763681:9763681(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs778951185
CDS Mutation c.3863G>A
AA Mutation p.Arg1288His(p.R1288H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000330684
Start 9840766:9840766(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs267604688
CDS Mutation c.1532C>T
AA Mutation p.Ser511Leu(p.S511L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000330684
Start 10180117:10180117(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.295G>A
AA Mutation p.Val99Met(p.V99M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000330684
Start 9938499:9938499(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs763500409
CDS Mutation c.467C>T
AA Mutation p.Thr156Met(p.T156M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000330684
Start 9829602:9829602(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1828G>A
AA Mutation p.Gly610Ser(p.G610S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000330684
Start 9938040:9938040(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.926A>C
AA Mutation p.Lys309Thr(p.K309T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000330684
Start 9763340:9763340(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4204C>T
AA Mutation p.Arg1402Trp(p.R1402W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000330684
Start 9841074:9841074(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1359G>T
AA Mutation p.Lys453Asn(p.K453N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000330684
Start 9764301:9764301(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3243A>C
AA Mutation p.Lys1081Asn(p.K1081N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000330684
Start 9834194:9834194(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1688T>C
AA Mutation p.Val563Ala(p.V563A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000330684
Start 9841013:9841013(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1420A>G
AA Mutation p.Thr474Ala(p.T474A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence synonymous_variant
Transcription ID ENST00000330684
Start 9849767:9849767(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs752012396
CDS Mutation c.1317C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 16
Mutation Consequence synonymous_variant
Transcription ID ENST00000330684
Start 9938123:9938123(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs554338361
CDS Mutation c.843C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 17
Mutation Consequence synonymous_variant
Transcription ID ENST00000330684
Start 9938003:9938003(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs368200727
CDS Mutation c.963C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 18
Mutation Consequence synonymous_variant
Transcription ID ENST00000330684
Start 9763800:9763800(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3744C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 19
Mutation Consequence synonymous_variant
Transcription ID ENST00000330684
Start 9764034:9764034(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3510C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 20
Mutation Consequence synonymous_variant
Transcription ID ENST00000330684
Start 9764241:9764241(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs774772499
CDS Mutation c.3303C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 21
Mutation Consequence stop_gained
Transcription ID ENST00000330684
Start 9764537:9764537(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3007G>T
AA Mutation p.Glu1003Ter(p.E1003*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence stop_gained
Transcription ID ENST00000330684
Start 9822391:9822391(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs397518472
CDS Mutation c.2041C>T
AA Mutation p.Arg681Ter(p.R681*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript