Primary Site >> Stomach Cancer

Gene >> XIRP2

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000628543
Start 167243577:167243577(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs370504310
CDS Mutation c.1660G>T
AA Mutation p.Val554Phe(p.V554F)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000628543
Start 167246813:167246813(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4896C>G
AA Mutation p.Asp1632Glu(p.D1632E)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000628543
Start 167244906:167244906(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2989G>C
AA Mutation p.Glu997Gln(p.E997Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 4
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000628543
Start 167254033:167254033(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.10032A>C
AA Mutation p.Glu3344Asp(p.E3344D)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000628543
Start 167250356:167250356(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8439A>G
AA Mutation p.Ile2813Met(p.I2813M)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000628543
Start 167248590:167248590(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6673G>C
AA Mutation p.Glu2225Gln(p.E2225Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000628543
Start 167247331:167247331(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5414A>T
AA Mutation p.Lys1805Met(p.K1805M)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000628543
Start 167244413:167244413(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2496A>C
AA Mutation p.Glu832Asp(p.E832D)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000628543
Start 167250925:167250925(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs375622239
CDS Mutation c.9008G>A
AA Mutation p.Arg3003His(p.R3003H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000628543
Start 167247487:167247487(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs111389244
CDS Mutation c.5570G>A
AA Mutation p.Arg1857His(p.R1857H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000628543
Start 167248960:167248960(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7043C>T
AA Mutation p.Ser2348Leu(p.S2348L)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000628543
Start 167248721:167248721(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6804A>C
AA Mutation p.Lys2268Asn(p.K2268N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000628543
Start 167248947:167248947(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7030A>G
AA Mutation p.Ile2344Val(p.I2344V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000628543
Start 167246157:167246157(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4240A>C
AA Mutation p.Asn1414His(p.N1414H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000628543
Start 167245595:167245595(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3678A>C
AA Mutation p.Glu1226Asp(p.E1226D)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000628543
Start 167243725:167243725(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs200209475
CDS Mutation c.1808C>T
AA Mutation p.Pro603Leu(p.P603L)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000628543
Start 167245768:167245768(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3851A>G
AA Mutation p.His1284Arg(p.H1284R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000628543
Start 167250385:167250385(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8468A>G
AA Mutation p.His2823Arg(p.H2823R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000628543
Start 167247757:167247757(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs764649905
CDS Mutation c.5840G>A
AA Mutation p.Gly1947Glu(p.G1947E)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000628543
Start 167251322:167251322(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9405G>T
AA Mutation p.Gln3135His(p.Q3135H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000628543
Start 167218190:167218190(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs529704993
CDS Mutation c.223G>A
AA Mutation p.Ala75Thr(p.A75T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000628543
Start 167250107:167250107(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs768731520
CDS Mutation c.8190A>C
AA Mutation p.Gln2730His(p.Q2730H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000628543
Start 167250670:167250670(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs576110894
CDS Mutation c.8753G>A
AA Mutation p.Arg2918His(p.R2918H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 24
Mutation Consequence missense_variant
Transcription ID ENST00000628543
Start 167244271:167244271(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2354T>G
AA Mutation p.Phe785Cys(p.F785C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 25
Mutation Consequence missense_variant
Transcription ID ENST00000628543
Start 167244600:167244600(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2683T>G
AA Mutation p.Phe895Val(p.F895V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 26
Mutation Consequence missense_variant
Transcription ID ENST00000628543
Start 167245422:167245422(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3505C>A
AA Mutation p.His1169Asn(p.H1169N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 27
Mutation Consequence missense_variant
Transcription ID ENST00000628543
Start 167247144:167247144(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5227C>T
AA Mutation p.Leu1743Phe(p.L1743F)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 28
Mutation Consequence missense_variant
Transcription ID ENST00000628543
Start 167247276:167247276(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs775937806
CDS Mutation c.5359A>G
AA Mutation p.Thr1787Ala(p.T1787A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 29
Mutation Consequence missense_variant
Transcription ID ENST00000628543
Start 167248969:167248969(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7052A>G
AA Mutation p.Glu2351Gly(p.E2351G)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 30
Mutation Consequence missense_variant
Transcription ID ENST00000628543
Start 167248002:167248002(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6085A>G
AA Mutation p.Ile2029Val(p.I2029V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 31
Mutation Consequence missense_variant
Transcription ID ENST00000628543
Start 167250594:167250594(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8677G>A
AA Mutation p.Glu2893Lys(p.E2893K)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 32
Mutation Consequence missense_variant
Transcription ID ENST00000628543
Start 167250820:167250820(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8903A>G
AA Mutation p.Gln2968Arg(p.Q2968R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 33
Mutation Consequence missense_variant
Transcription ID ENST00000628543
Start 167243704:167243704(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs748922110
CDS Mutation c.1787G>A
AA Mutation p.Arg596Gln(p.R596Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 34
Mutation Consequence missense_variant
Transcription ID ENST00000628543
Start 167247553:167247553(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5636A>C
AA Mutation p.Asn1879Thr(p.N1879T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 35
Mutation Consequence missense_variant
Transcription ID ENST00000628543
Start 167246398:167246398(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4481A>G
AA Mutation p.Glu1494Gly(p.E1494G)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 36
Mutation Consequence missense_variant
Transcription ID ENST00000628543
Start 167251730:167251730(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9813A>C
AA Mutation p.Lys3271Asn(p.K3271N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 37
Mutation Consequence missense_variant
Transcription ID ENST00000628543
Start 167245595:167245595(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3678A>T
AA Mutation p.Glu1226Asp(p.E1226D)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 38
Mutation Consequence missense_variant
Transcription ID ENST00000628543
Start 167245729:167245729(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3812A>C
AA Mutation p.Lys1271Thr(p.K1271T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 39
Mutation Consequence missense_variant
Transcription ID ENST00000628543
Start 167243499:167243499(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1582C>A
AA Mutation p.Gln528Lys(p.Q528K)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 40
Mutation Consequence missense_variant
Transcription ID ENST00000628543
Start 167243421:167243421(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1504G>A
AA Mutation p.Ala502Thr(p.A502T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 41
Mutation Consequence missense_variant
Transcription ID ENST00000409195
Start 166903730:166903730(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.248A>T
AA Mutation p.Lys83Met(p.K83M)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 42
Mutation Consequence missense_variant
Transcription ID ENST00000628543
Start 167243047:167243047(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1130G>A
AA Mutation p.Ser377Asn(p.S377N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 43
Mutation Consequence missense_variant
Transcription ID ENST00000409195
Start 166903700:166903700(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs569003317
CDS Mutation c.218C>T
AA Mutation p.Ser73Leu(p.S73L)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 44
Mutation Consequence missense_variant
Transcription ID ENST00000628543
Start 167251933:167251933(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10016C>G
AA Mutation p.Ser3339Cys(p.S3339C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 45
Mutation Consequence missense_variant
Transcription ID ENST00000628543
Start 167243601:167243601(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs201995517
CDS Mutation c.1684G>A
AA Mutation p.Glu562Lys(p.E562K)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 46
Mutation Consequence missense_variant
Transcription ID ENST00000628543
Start 167247753:167247753(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs181373166
CDS Mutation c.5836G>A
AA Mutation p.Val1946Ile(p.V1946I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 47
Mutation Consequence missense_variant
Transcription ID ENST00000409195
Start 166903792:166903792(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs372476244
CDS Mutation c.310C>T
AA Mutation p.Arg104Trp(p.R104W)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 48
Mutation Consequence missense_variant
Transcription ID ENST00000628543
Start 167245192:167245192(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3275T>G
AA Mutation p.Ile1092Arg(p.I1092R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 49
Mutation Consequence missense_variant
Transcription ID ENST00000409195
Start 166903808:166903808(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs111792328
CDS Mutation c.326G>A
AA Mutation p.Arg109His(p.R109H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 50
Mutation Consequence missense_variant
Transcription ID ENST00000628543
Start 167246593:167246593(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4676A>C
AA Mutation p.Lys1559Thr(p.K1559T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 51
Mutation Consequence missense_variant
Transcription ID ENST00000628543
Start 167254097:167254097(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs749532362
CDS Mutation c.10096C>T
AA Mutation p.Pro3366Ser(p.P3366S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 52
Mutation Consequence missense_variant
Transcription ID ENST00000409195
Start 166903823:166903823(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.341T>G
AA Mutation p.Leu114Arg(p.L114R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 53
Mutation Consequence missense_variant
Transcription ID ENST00000628543
Start 167249290:167249290(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs371389487
CDS Mutation c.7373C>T
AA Mutation p.Ser2458Leu(p.S2458L)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 54
Mutation Consequence missense_variant
Transcription ID ENST00000628543
Start 167250494:167250494(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8577G>A
AA Mutation p.Met2859Ile(p.M2859I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 55
Mutation Consequence missense_variant
Transcription ID ENST00000628543
Start 167251875:167251875(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9958G>A
AA Mutation p.Gly3320Arg(p.G3320R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 56
Mutation Consequence missense_variant
Transcription ID ENST00000628543
Start 167249368:167249368(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7451T>C
AA Mutation p.Val2484Ala(p.V2484A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 57
Mutation Consequence missense_variant
Transcription ID ENST00000628543
Start 167239940:167239940(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.419A>T
AA Mutation p.Lys140Ile(p.K140I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 58
Mutation Consequence missense_variant
Transcription ID ENST00000628543
Start 167242653:167242653(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.736A>G
AA Mutation p.Lys246Glu(p.K246E)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 59
Mutation Consequence missense_variant
Transcription ID ENST00000628543
Start 167251483:167251483(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs200019960
CDS Mutation c.9566T>C
AA Mutation p.Ile3189Thr(p.I3189T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 60
Mutation Consequence synonymous_variant
Transcription ID ENST00000628543
Start 167244527:167244527(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2610A>G
Mutation Classification Silent
Feature Type Transcript
ID 61
Mutation Consequence synonymous_variant
Transcription ID ENST00000628543
Start 167249420:167249420(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7503A>G
Mutation Classification Silent
Feature Type Transcript
ID 62
Mutation Consequence synonymous_variant
Transcription ID ENST00000409195
Start 166903794:166903794(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.312G>A
Mutation Classification Silent
Feature Type Transcript
ID 63
Mutation Consequence synonymous_variant
Transcription ID ENST00000628543
Start 167246039:167246039(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4122C>A
Mutation Classification Silent
Feature Type Transcript
ID 64
Mutation Consequence synonymous_variant
Transcription ID ENST00000628543
Start 167247950:167247950(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6033T>G
Mutation Classification Silent
Feature Type Transcript
ID 65
Mutation Consequence synonymous_variant
Transcription ID ENST00000628543
Start 167241817:167241817(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs780019537
CDS Mutation c.558G>A
Mutation Classification Silent
Feature Type Transcript
ID 66
Mutation Consequence synonymous_variant
Transcription ID ENST00000628543
Start 167243600:167243600(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs76149079
CDS Mutation c.1683C>T
Mutation Classification Silent
Feature Type Transcript
ID 67
Mutation Consequence synonymous_variant
Transcription ID ENST00000628543
Start 167250011:167250011(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8094A>G
Mutation Classification Silent
Feature Type Transcript
ID 68
Mutation Consequence synonymous_variant
Transcription ID ENST00000628543
Start 167246012:167246012(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4095T>C
Mutation Classification Silent
Feature Type Transcript
ID 69
Mutation Consequence synonymous_variant
Transcription ID ENST00000628543
Start 167248124:167248124(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6207T>G
Mutation Classification Silent
Feature Type Transcript
ID 70
Mutation Consequence synonymous_variant
Transcription ID ENST00000628543
Start 167246309:167246309(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4392A>G
Mutation Classification Silent
Feature Type Transcript
ID 71
Mutation Consequence synonymous_variant
Transcription ID ENST00000628543
Start 167242613:167242613(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.696G>A
Mutation Classification Silent
Feature Type Transcript
ID 72
Mutation Consequence synonymous_variant
Transcription ID ENST00000628543
Start 167245595:167245595(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3678A>G
Mutation Classification Silent
Feature Type Transcript
ID 73
Mutation Consequence synonymous_variant
Transcription ID ENST00000628543
Start 167246327:167246327(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4410T>C
Mutation Classification Silent
Feature Type Transcript
ID 74
Mutation Consequence synonymous_variant
Transcription ID ENST00000628543
Start 167243888:167243888(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1971A>G
Mutation Classification Silent
Feature Type Transcript
ID 75
Mutation Consequence synonymous_variant
Transcription ID ENST00000628543
Start 167244770:167244770(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2853T>C
Mutation Classification Silent
Feature Type Transcript
ID 76
Mutation Consequence frameshift_variant
Transcription ID ENST00000628543
Start 167243448:167243448(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.1537delG
AA Mutation p.Asp513MetfsTer5(p.D513Mfs*5)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 77
Mutation Consequence frameshift_variant
Transcription ID ENST00000628543
Start 167247227:167247227(version: GRCh38)
Mutation Type DEL
dbSNP_RS rs764231836
CDS Mutation c.5316delA
AA Mutation p.Asp1773MetfsTer5(p.D1773Mfs*5)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 78
Mutation Consequence frameshift_variant
Transcription ID ENST00000628543
Start 167249851:167249851(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.7940delA
AA Mutation p.Asn2647IlefsTer6(p.N2647Ifs*6)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 79
Mutation Consequence frameshift_variant
Transcription ID ENST00000628543
Start 167242922:167242922(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.1010delA
AA Mutation p.Asn337ThrfsTer2(p.N337Tfs*2)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 80
Mutation Consequence stop_gained
Transcription ID ENST00000628543
Start 167247429:167247429(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5512A>T
AA Mutation p.Arg1838Ter(p.R1838*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 81
Mutation Consequence stop_gained
Transcription ID ENST00000628543
Start 167245371:167245371(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs377388661
CDS Mutation c.3454C>T
AA Mutation p.Arg1152Ter(p.R1152*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 82
Mutation Consequence frameshift_variant
Transcription ID ENST00000628543
Start 167249160:167249161(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.7249dupA
AA Mutation p.Thr2417AsnfsTer3(p.T2417Nfs*3)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
ID 83
Mutation Consequence frameshift_variant
Transcription ID ENST00000628543
Start 167247226:167247227(version: GRCh38)
Mutation Type INS
dbSNP_RS rs760810271
CDS Mutation c.5316dupA
AA Mutation p.Asp1773ArgfsTer3(p.D1773Rfs*3)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
ID 84
Mutation Consequence frameshift_variant
Transcription ID ENST00000628543
Start 167246234:167246235(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.4321dupA
AA Mutation p.Arg1441LysfsTer5(p.R1441Kfs*5)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
ID 85
Mutation Consequence frameshift_variant
Transcription ID ENST00000628543
Start 167245449:167245450(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.3537dupT
AA Mutation p.Glu1180Ter(p.E1180*)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
ID 86
Mutation Consequence splice_donor_variant
Transcription ID ENST00000409195
Start 166903892:166903892(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.408+2T>C
Mutation Classification Splice_Site
Feature Type Transcript
ID 87
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000628543
Start 167239854:167239854(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.334-1G>T
Mutation Classification Splice_Site
Feature Type Transcript