Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> APC

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000257430
Start 112754895:112754895(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5C>A
AA Mutation p.Ala2Asp(p.A2D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000257430
Start 112827972:112827972(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1592C>T
AA Mutation p.Ala531Val(p.A531V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000257430
Start 112842880:112842880(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7286C>T
AA Mutation p.Ser2429Phe(p.S2429F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000257430
Start 112828899:112828899(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1670T>C
AA Mutation p.Val557Ala(p.V557A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000257430
Start 112843803:112843803(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8209G>C
AA Mutation p.Glu2737Gln(p.E2737Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000257430
Start 112842240:112842240(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6646C>T
AA Mutation p.Pro2216Ser(p.P2216S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000257430
Start 112843945:112843945(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8351T>G
AA Mutation p.Phe2784Cys(p.F2784C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000257430
Start 112842672:112842672(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7078G>A
AA Mutation p.Gly2360Ser(p.G2360S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000257430
Start 112775652:112775652(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.446A>G
AA Mutation p.Asp149Gly(p.D149G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000257430
Start 112841680:112841680(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6086C>A
AA Mutation p.Ser2029Tyr(p.S2029Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000257430
Start 112837702:112837702(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2108C>A
AA Mutation p.Ala703Glu(p.A703E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000257430
Start 112841617:112841617(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6023C>T
AA Mutation p.Ala2008Val(p.A2008V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000257430
Start 112835125:112835125(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1918C>T
AA Mutation p.Arg640Trp(p.R640W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000257430
Start 112819236:112819236(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1204C>T
AA Mutation p.Arg402Cys(p.R402C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000257430
Start 112839673:112839673(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4079C>G
AA Mutation p.Ser1360Cys(p.S1360C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000257430
Start 112839210:112839210(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3616A>G
AA Mutation p.Ser1206Gly(p.S1206G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000257430
Start 112792489:112792489(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs587780545
CDS Mutation c.689G>A
AA Mutation p.Arg230His(p.R230H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000257430
Start 112839294:112839294(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3700A>G
AA Mutation p.Ser1234Gly(p.S1234G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000257430
Start 112840707:112840707(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5113A>C
AA Mutation p.Thr1705Pro(p.T1705P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000257430
Start 112839469:112839469(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs371113837
CDS Mutation c.3875C>T
AA Mutation p.Thr1292Met(p.T1292M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000257430
Start 112839558:112839558(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3964G>C
AA Mutation p.Glu1322Gln(p.E1322Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000257430
Start 112838914:112838914(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3320C>T
AA Mutation p.Ala1107Val(p.A1107V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000257430
Start 112834969:112834969(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs372416031
CDS Mutation c.1762G>A
AA Mutation p.Val588Ile(p.V588I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 24
Mutation Consequence missense_variant
Transcription ID ENST00000257430
Start 112838095:112838095(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2501C>T
AA Mutation p.Ser834Phe(p.S834F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 25
Mutation Consequence missense_variant
Transcription ID ENST00000257430
Start 112837679:112837679(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2085G>T
AA Mutation p.Gln695His(p.Q695H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 26
Mutation Consequence missense_variant
Transcription ID ENST00000257430
Start 112843240:112843240(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs199558585
CDS Mutation c.7646G>A
AA Mutation p.Arg2549His(p.R2549H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 27
Mutation Consequence missense_variant
Transcription ID ENST00000257430
Start 112840074:112840074(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4480G>A
AA Mutation p.Glu1494Lys(p.E1494K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 28
Mutation Consequence missense_variant
Transcription ID ENST00000257430
Start 112840189:112840189(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4595A>G
AA Mutation p.Asp1532Gly(p.D1532G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 29
Mutation Consequence missense_variant
Transcription ID ENST00000257430
Start 112841332:112841332(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5738T>C
AA Mutation p.Ile1913Thr(p.I1913T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 30
Mutation Consequence missense_variant
Transcription ID ENST00000257430
Start 112838008:112838008(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs200593940
CDS Mutation c.2414G>A
AA Mutation p.Arg805Gln(p.R805Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 31
Mutation Consequence missense_variant
Transcription ID ENST00000257430
Start 112840300:112840300(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4706A>C
AA Mutation p.Asp1569Ala(p.D1569A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 32
Mutation Consequence missense_variant
Transcription ID ENST00000257430
Start 112842514:112842514(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6920C>T
AA Mutation p.Ser2307Leu(p.S2307L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 33
Mutation Consequence missense_variant
Transcription ID ENST00000257430
Start 112834979:112834979(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1772C>T
AA Mutation p.Ala591Val(p.A591V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 34
Mutation Consequence missense_variant
Transcription ID ENST00000257430
Start 112835063:112835063(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1856C>A
AA Mutation p.Thr619Asn(p.T619N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 35
Mutation Consequence missense_variant
Transcription ID ENST00000257430
Start 112841716:112841716(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6122A>G
AA Mutation p.Glu2041Gly(p.E2041G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 36
Mutation Consequence missense_variant
Transcription ID ENST00000257430
Start 112842065:112842065(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6471A>C
AA Mutation p.Lys2157Asn(p.K2157N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 37
Mutation Consequence missense_variant
Transcription ID ENST00000257430
Start 112841063:112841063(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5469C>A
AA Mutation p.Phe1823Leu(p.F1823L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 38
Mutation Consequence missense_variant
Transcription ID ENST00000257430
Start 112839834:112839834(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4240G>T
AA Mutation p.Val1414Leu(p.V1414L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 39
Mutation Consequence missense_variant
Transcription ID ENST00000257430
Start 112839835:112839835(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4241T>G
AA Mutation p.Val1414Gly(p.V1414G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 40
Mutation Consequence missense_variant
Transcription ID ENST00000257430
Start 112842169:112842169(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6575A>C
AA Mutation p.Lys2192Thr(p.K2192T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 41
Mutation Consequence missense_variant
Transcription ID ENST00000257430
Start 112843995:112843995(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8401C>T
AA Mutation p.Arg2801Trp(p.R2801W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 42
Mutation Consequence missense_variant
Transcription ID ENST00000257430
Start 112755020:112755020(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.130A>G
AA Mutation p.Met44Val(p.M44V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 43
Mutation Consequence missense_variant
Transcription ID ENST00000257430
Start 112841229:112841229(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs587779799
CDS Mutation c.5635G>T
AA Mutation p.Ala1879Ser(p.A1879S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 44
Mutation Consequence synonymous_variant
Transcription ID ENST00000257430
Start 112834968:112834968(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs370783137
CDS Mutation c.1761C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 45
Mutation Consequence synonymous_variant
Transcription ID ENST00000257430
Start 112840580:112840580(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4986C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 46
Mutation Consequence synonymous_variant
Transcription ID ENST00000257430
Start 112837586:112837586(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1992T>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 47
Mutation Consequence synonymous_variant
Transcription ID ENST00000257430
Start 112819037:112819037(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs3797704
CDS Mutation c.1005A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 48
Mutation Consequence synonymous_variant
Transcription ID ENST00000257430
Start 112838600:112838600(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs72541810
CDS Mutation c.3006C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 49
Mutation Consequence synonymous_variant
Transcription ID ENST00000257430
Start 112839701:112839701(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4107C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 50
Mutation Consequence synonymous_variant
Transcription ID ENST00000257430
Start 112838942:112838942(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3348T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 51
Mutation Consequence synonymous_variant
Transcription ID ENST00000257430
Start 112821978:112821978(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1395A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 52
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112840057:112840063(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.4464_4470delATTACAT
AA Mutation p.Leu1488PhefsTer17(p.L1488Ffs*17)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 53
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112837993:112837993(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.2403delT
AA Mutation p.Phe801LeufsTer19(p.F801Lfs*19)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 54
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112840319:112840319(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.4725delA
AA Mutation p.Glu1576LysfsTer74(p.E1576Kfs*74)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 55
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112839496:112839496(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.3904delC
AA Mutation p.Leu1302CysfsTer3(p.L1302Cfs*3)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 56
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112839649:112839649(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.4056delT
AA Mutation p.Glu1353AsnfsTer62(p.E1353Nfs*62)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 57
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112839883:112839883(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.4290delC
AA Mutation p.Met1431CysfsTer42(p.M1431Cfs*42)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 58
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112839583:112839584(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.3989_3990delCT
AA Mutation p.Pro1330GlnfsTer11(p.P1330Qfs*11)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 59
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112819112:112819113(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.1081_1082delCA
AA Mutation p.His361TrpfsTer3(p.H361Wfs*3)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 60
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112819238:112819238(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.1206delT
AA Mutation p.Glu403LysfsTer51(p.E403Kfs*51)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 61
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112839855:112839855(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.4261delA
AA Mutation p.Ser1421ValfsTer52(p.S1421Vfs*52)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 62
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112839812:112839812(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.4218delG
AA Mutation p.Ser1407ValfsTer8(p.S1407Vfs*8)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 63
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112839208:112839208(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.3614delG
AA Mutation p.Ser1205ThrfsTer60(p.S1205Tfs*60)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 64
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112840069:112840069(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.4476delC
AA Mutation p.Thr1493ArgfsTer14(p.T1493Rfs*14)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 65
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112840333:112840333(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.4741delT
AA Mutation p.Ser1581LeufsTer69(p.S1581Lfs*69)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 66
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112839604:112839605(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.4010_4011delTG
AA Mutation p.Leu1337ProfsTer4(p.L1337Pfs*4)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 67
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112839082:112839082(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.3488delG
AA Mutation p.Ser1163ThrfsTer2(p.S1163Tfs*2)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 68
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112840312:112840312(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.4720delA
AA Mutation p.Ile1574TyrfsTer2(p.I1574Yfs*2)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 69
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112839899:112839899(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.4306delA
AA Mutation p.Ser1436ValfsTer37(p.S1436Vfs*37)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 70
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112775711:112775714(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.509_512delATAG
AA Mutation p.Asp170ValfsTer4(p.D170Vfs*4)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 71
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112835080:112835083(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.1875_1878delGACA
AA Mutation p.Asn627LeufsTer2(p.N627Lfs*2)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 72
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112840051:112840057(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.4459_4465delACTTTAT
AA Mutation p.Thr1487TyrfsTer18(p.T1487Yfs*18)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 73
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112828967:112828967(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.1742delA
AA Mutation p.Lys581ArgfsTer9(p.K581Rfs*9)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 74
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112840330:112840333(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.4738_4741delATTT
AA Mutation p.Ile1580LeufsTer69(p.I1580Lfs*69)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 75
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112838483:112838483(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.2891delT
AA Mutation p.Leu964Ter(p.L964*)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 76
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112839856:112839856(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.4262delG
AA Mutation p.Ser1421MetfsTer52(p.S1421Mfs*52)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 77
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112815579:112815579(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.919delC
AA Mutation p.His307IlefsTer29(p.H307Ifs*29)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 78
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112839787:112839787(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.4193delG
AA Mutation p.Ser1398IlefsTer17(p.S1398Ifs*17)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 79
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112839799:112839818(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.4208_4227delGCTCCGTTCAGAGTGAACCA
AA Mutation p.Ser1403MetfsTer13(p.S1403Mfs*13)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 80
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112840055:112840055(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.4463delT
AA Mutation p.Leu1488TyrfsTer19(p.L1488Yfs*19)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 81
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112839796:112839796(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.4203delT
AA Mutation p.Ile1401MetfsTer14(p.I1401Mfs*14)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 82
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112839654:112839654(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.4063delT
AA Mutation p.Ser1355LeufsTer60(p.S1355Lfs*60)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 83
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112835065:112835068(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.1863_1866delTTAC
AA Mutation p.Tyr622GlyfsTer7(p.Y622Gfs*7)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 84
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112838134:112838134(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.2544delA
AA Mutation p.Asp849IlefsTer12(p.D849Ifs*12)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 85
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112840059:112840059(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.4466delT
AA Mutation p.Leu1489TyrfsTer18(p.L1489Yfs*18)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 86
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112839833:112839833(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.4240delG
AA Mutation p.Val1414Ter(p.V1414*)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 87
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112840049:112840049(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.4455delT
AA Mutation p.Asp1486IlefsTer21(p.D1486Ifs*21)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 88
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112840186:112840195(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.4592_4601delATGACAATGG
AA Mutation p.Asn1531ArgfsTer31(p.N1531Rfs*31)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 89
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112839827:112839827(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.4233delT
AA Mutation p.Ser1411ArgfsTer4(p.S1411Rfs*4)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 90
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112839549:112839549(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.3956delC
AA Mutation p.Pro1319LeufsTer2(p.P1319Lfs*2)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 91
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112839951:112839951(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.4358delC
AA Mutation p.Pro1453LeufsTer20(p.P1453Lfs*20)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 92
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112838420:112838420(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.2827delT
AA Mutation p.Ser943GlnfsTer12(p.S943Qfs*12)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 93
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112839896:112839917(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.4303_4324delAGAAGTAAAACACCTCCACCAC
AA Mutation p.Arg1435LeufsTer31(p.R1435Lfs*31)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 94
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112792515:112792515(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.715delG
AA Mutation p.Ala239GlnfsTer54(p.A239Qfs*54)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 95
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112839979:112839982(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.4391_4394delAGAG
AA Mutation p.Glu1464ValfsTer8(p.E1464Vfs*8)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 96
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112835083:112835086(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.1879_1882delAACA
AA Mutation p.Asn627LeufsTer2(p.N627Lfs*2)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 97
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112839478:112839478(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.3885delA
AA Mutation p.Ala1296GlnfsTer9(p.A1296Qfs*9)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 98
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112775705:112775705(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.502delA
AA Mutation p.Arg168GlufsTer2(p.R168Efs*2)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 99
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112839163:112839163(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.3569delC
AA Mutation p.Ser1190TyrfsTer75(p.S1190Yfs*75)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 100
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112840262:112840263(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.4669_4670delAT
AA Mutation p.Ile1557Ter(p.I1557*)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 101
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112837921:112837928(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.2328_2335delAGACAATT
AA Mutation p.Asp777LysfsTer8(p.D777Kfs*8)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 102
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112839954:112839954(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.4364delA
AA Mutation p.Asn1455IlefsTer18(p.N1455Ifs*18)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 103
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112839918:112839918(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.4325delC
AA Mutation p.Pro1442LeufsTer31(p.P1442Lfs*31)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 104
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112840194:112840194(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.4602delG
AA Mutation p.Asn1535MetfsTer30(p.N1535Mfs*30)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 105
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112838290:112838291(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.2696_2697delCC
AA Mutation p.Thr899IlefsTer12(p.T899Ifs*12)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 106
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112838751:112838751(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.3159delA
AA Mutation p.Lys1053AsnfsTer3(p.K1053Nfs*3)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 107
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112840255:112840255(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.4666delA
AA Mutation p.Thr1556LeufsTer9(p.T1556Lfs*9)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 108
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112839931:112839937(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.4338_4344delTCAAACC
AA Mutation p.Gln1447SerfsTer24(p.Q1447Sfs*24)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 109
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112840058:112840074(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.4465_4481delTTACATTTTGCCACGGA
AA Mutation p.Leu1489LysfsTer19(p.L1489Kfs*19)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 110
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112840064:112840064(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.4473delT
AA Mutation p.Phe1491LeufsTer16(p.F1491Lfs*16)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 111
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112840247:112840250(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.4653_4656delAGAG
AA Mutation p.Glu1552GlnfsTer12(p.E1552Qfs*12)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 112
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112839340:112839340(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.3746delG
AA Mutation p.Cys1249SerfsTer16(p.C1249Sfs*16)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 113
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112838100:112838113(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.2506_2519delTCATCAAGAGGAAG
AA Mutation p.Ser836LeufsTer3(p.S836Lfs*3)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 114
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112837819:112837819(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.2226delT
AA Mutation p.Met743CysfsTer18(p.M743Cfs*18)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 115
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112840073:112840073(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.4480delG
AA Mutation p.Glu1494LysfsTer13(p.E1494Kfs*13)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 116
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112839784:112839784(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.4190delA
AA Mutation p.Glu1397GlyfsTer18(p.E1397Gfs*18)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 117
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112839524:112839524(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.3930delG
AA Mutation p.Ile1311LeufsTer10(p.I1311Lfs*10)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 118
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112839511:112839515(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.3920_3924delTAAAA
AA Mutation p.Ile1307ArgfsTer6(p.I1307Rfs*6)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 119
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112775678:112775678(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.472delT
AA Mutation p.Tyr158IlefsTer12(p.Y158Ifs*12)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 120
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112839835:112839835(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.4241delT
AA Mutation p.Val1414GlufsTer5(p.V1414Efs*5)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 121
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112839950:112839950(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.4356delA
AA Mutation p.Pro1453LeufsTer20(p.P1453Lfs*20)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 122
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112839909:112839909(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.4316delC
AA Mutation p.Pro1439LeufsTer34(p.P1439Lfs*34)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 123
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112839793:112839793(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.4199delC
AA Mutation p.Ser1400Ter(p.S1400*)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 124
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112838331:112838331(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.2737delC
AA Mutation p.His913IlefsTer3(p.H913Ifs*3)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 125
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112839908:112839908(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.4314delA
AA Mutation p.Pro1439LeufsTer34(p.P1439Lfs*34)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 126
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112840068:112840068(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.4474delG
AA Mutation p.Ala1492ProfsTer15(p.A1492Pfs*15)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 127
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112839931:112839931(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.4337delC
AA Mutation p.Ala1446ValfsTer27(p.A1446Vfs*27)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 128
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112840220:112840220(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.4626delT
AA Mutation p.Glu1544AsnfsTer21(p.E1544Nfs*21)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 129
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112838330:112838339(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.2739_2748delTTGTGTGACA
AA Mutation p.His913GlnfsTer39(p.H913Qfs*39)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 130
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112838140:112838140(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.2546delA
AA Mutation p.Asp849ValfsTer12(p.D849Vfs*12)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 131
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112839897:112839897(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.4303delA
AA Mutation p.Arg1435GlufsTer38(p.R1435Efs*38)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 132
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112839526:112839527(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.3932_3933delTT
AA Mutation p.Ile1311ArgfsTer3(p.I1311Rfs*3)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 133
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112834969:112834969(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.1762delG
AA Mutation p.Val588TyrfsTer2(p.V588Yfs*2)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 134
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112839506:112839506(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.3912delA
AA Mutation p.Ile1304MetfsTer4(p.I1304Mfs*4)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 135
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112839783:112839783(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4189G>T
AA Mutation p.Glu1397Ter(p.E1397*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 136
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112838571:112838571(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2977A>T
AA Mutation p.Lys993Ter(p.K993*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 137
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112827194:112827194(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs137854580
CDS Mutation c.1495C>T
AA Mutation p.Arg499Ter(p.R499*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 138
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112839510:112839510(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs121913462
CDS Mutation c.3916G>T
AA Mutation p.Glu1306Ter(p.E1306*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 139
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112815564:112815564(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs137854568
CDS Mutation c.904C>T
AA Mutation p.Arg302Ter(p.R302*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 140
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112839726:112839726(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs121913329
CDS Mutation c.4132C>T
AA Mutation p.Gln1378Ter(p.Q1378*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 141
Mutation Consequence stop_gained;splice_region_variant
Transcription ID ENST00000257430
Start 112792446:112792446(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs62619935
CDS Mutation c.646C>T
AA Mutation p.Arg216Ter(p.R216*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 142
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112839693:112839693(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs121913328
CDS Mutation c.4099C>T
AA Mutation p.Gln1367Ter(p.Q1367*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 143
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112828919:112828919(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs137854574
CDS Mutation c.1690C>T
AA Mutation p.Arg564Ter(p.R564*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 144
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112839942:112839942(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs121913332
CDS Mutation c.4348C>T
AA Mutation p.Arg1450Ter(p.R1450*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 145
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112839769:112839769(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs786204170
CDS Mutation c.4175C>A
AA Mutation p.Ser1392Ter(p.S1392*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 146
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112801339:112801339(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.790C>T
AA Mutation p.Gln264Ter(p.Q264*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 147
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112839924:112839924(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4330C>T
AA Mutation p.Gln1444Ter(p.Q1444*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 148
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112838415:112838415(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2821G>T
AA Mutation p.Glu941Ter(p.E941*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 149
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112839945:112839945(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4351G>T
AA Mutation p.Glu1451Ter(p.E1451*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 150
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112839501:112839501(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3907C>T
AA Mutation p.Gln1303Ter(p.Q1303*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 151
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112819026:112819026(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs775126020
CDS Mutation c.994C>T
AA Mutation p.Arg332Ter(p.R332*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 152
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112840239:112840239(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4645C>T
AA Mutation p.Gln1549Ter(p.Q1549*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 153
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112839465:112839465(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3871C>T
AA Mutation p.Gln1291Ter(p.Q1291*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 154
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112838399:112838399(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs137854575
CDS Mutation c.2805C>A
AA Mutation p.Tyr935Ter(p.Y935*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 155
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112838220:112838220(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs121913333
CDS Mutation c.2626C>T
AA Mutation p.Arg876Ter(p.R876*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 156
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112838697:112838697(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3103C>T
AA Mutation p.Gln1035Ter(p.Q1035*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 157
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112801351:112801351(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.802G>T
AA Mutation p.Glu268Ter(p.E268*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 158
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112839324:112839324(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3730C>T
AA Mutation p.Gln1244Ter(p.Q1244*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 159
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112839219:112839219(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3625G>T
AA Mutation p.Glu1209Ter(p.E1209*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 160
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112815507:112815507(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs786201856
CDS Mutation c.847C>T
AA Mutation p.Arg283Ter(p.R283*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 161
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112839519:112839519(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3925G>T
AA Mutation p.Glu1309Ter(p.E1309*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 162
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112838934:112838934(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs121913331
CDS Mutation c.3340C>T
AA Mutation p.Arg1114Ter(p.R1114*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 163
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112839436:112839436(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3842C>G
AA Mutation p.Ser1281Ter(p.S1281*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 164
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112839538:112839538(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3944C>G
AA Mutation p.Ser1315Ter(p.S1315*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 165
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112842303:112842303(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs768922431
CDS Mutation c.6709C>T
AA Mutation p.Arg2237Ter(p.R2237*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 166
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112838769:112838769(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3175G>T
AA Mutation p.Glu1059Ter(p.E1059*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 167
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112828889:112828889(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs137854573
CDS Mutation c.1660C>T
AA Mutation p.Arg554Ter(p.R554*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 168
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112838361:112838361(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2767A>T
AA Mutation p.Arg923Ter(p.R923*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 169
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112792494:112792494(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs397515734
CDS Mutation c.694C>T
AA Mutation p.Arg232Ter(p.R232*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 170
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112780895:112780895(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs587781392
CDS Mutation c.637C>T
AA Mutation p.Arg213Ter(p.R213*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 171
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112839879:112839879(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs74535574
CDS Mutation c.4285C>T
AA Mutation p.Gln1429Ter(p.Q1429*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 172
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112840023:112840023(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4429C>T
AA Mutation p.Gln1477Ter(p.Q1477*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 173
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112838007:112838007(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs587779783
CDS Mutation c.2413C>T
AA Mutation p.Arg805Ter(p.R805*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 174
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112839625:112839625(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4031C>A
AA Mutation p.Ser1344Ter(p.S1344*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 175
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112839574:112839574(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3980C>G
AA Mutation p.Ser1327Ter(p.S1327*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 176
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112838778:112838778(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3184C>T
AA Mutation p.Gln1062Ter(p.Q1062*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 177
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112838422:112838422(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2828C>A
AA Mutation p.Ser943Ter(p.S943*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 178
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112839474:112839474(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3880C>T
AA Mutation p.Gln1294Ter(p.Q1294*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 179
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112780814:112780814(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.556A>T
AA Mutation p.Arg186Ter(p.R186*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 180
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112839585:112839585(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3991A>T
AA Mutation p.Arg1331Ter(p.R1331*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 181
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112837903:112837903(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2309C>G
AA Mutation p.Ser770Ter(p.S770*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 182
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112839714:112839714(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4120G>T
AA Mutation p.Glu1374Ter(p.E1374*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 183
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112837691:112837691(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2097G>A
AA Mutation p.Trp699Ter(p.W699*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 184
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112838364:112838364(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2770A>T
AA Mutation p.Arg924Ter(p.R924*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 185
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112827137:112827137(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1438C>T
AA Mutation p.Gln480Ter(p.Q480*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 186
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112827947:112827947(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1567A>T
AA Mutation p.Lys523Ter(p.K523*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 187
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112819266:112819266(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1234C>T
AA Mutation p.Gln412Ter(p.Q412*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 188
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112819301:112819301(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1269G>A
AA Mutation p.Trp423Ter(p.W423*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 189
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112838399:112838399(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs137854575
CDS Mutation c.2805C>G
AA Mutation p.Tyr935Ter(p.Y935*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 190
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112839933:112839933(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4339C>T
AA Mutation p.Gln1447Ter(p.Q1447*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 191
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112819074:112819074(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1042C>T
AA Mutation p.Arg348Ter(p.R348*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 192
Mutation Consequence stop_gained;frameshift_variant
Transcription ID ENST00000257430
Start 112838397:112838398(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.2804dupA
AA Mutation p.Tyr935Ter(p.Y935*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 193
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112819245:112819245(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs587779780
CDS Mutation c.1213C>T
AA Mutation p.Arg405Ter(p.R405*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 194
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112838715:112838715(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3121C>T
AA Mutation p.Gln1041Ter(p.Q1041*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 195
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112839999:112839999(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4405C>T
AA Mutation p.Gln1469Ter(p.Q1469*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 196
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112839627:112839627(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4033G>T
AA Mutation p.Glu1345Ter(p.E1345*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 197
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112839810:112839810(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs587782518
CDS Mutation c.4216C>T
AA Mutation p.Gln1406Ter(p.Q1406*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 198
Mutation Consequence stop_gained;splice_region_variant
Transcription ID ENST00000257430
Start 112828004:112828004(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1624C>T
AA Mutation p.Gln542Ter(p.Q542*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 199
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112838346:112838346(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2752G>T
AA Mutation p.Glu918Ter(p.E918*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 200
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112839558:112839558(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3964G>T
AA Mutation p.Glu1322Ter(p.E1322*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 201
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112839816:112839816(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4222G>T
AA Mutation p.Glu1408Ter(p.E1408*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 202
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112838526:112838526(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2932C>T
AA Mutation p.Gln978Ter(p.Q978*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 203
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112839702:112839702(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4108A>T
AA Mutation p.Lys1370Ter(p.K1370*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 204
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112792467:112792467(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.667C>T
AA Mutation p.Gln223Ter(p.Q223*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 205
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112839538:112839538(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3944C>A
AA Mutation p.Ser1315Ter(p.S1315*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 206
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112839990:112839990(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4396G>T
AA Mutation p.Gly1466Ter(p.G1466*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 207
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112839240:112839240(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3646G>T
AA Mutation p.Glu1216Ter(p.E1216*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 208
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112839444:112839444(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3850G>T
AA Mutation p.Glu1284Ter(p.E1284*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 209
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112840182:112840182(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4588G>T
AA Mutation p.Glu1530Ter(p.E1530*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 210
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112838544:112838544(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2950G>T
AA Mutation p.Glu984Ter(p.E984*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 211
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112838295:112838295(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2701C>T
AA Mutation p.Gln901Ter(p.Q901*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 212
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112838215:112838215(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2621C>G
AA Mutation p.Ser874Ter(p.S874*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 213
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112837863:112837863(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2269C>T
AA Mutation p.Gln757Ter(p.Q757*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 214
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112844040:112844040(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8446C>T
AA Mutation p.Arg2816Ter(p.R2816*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 215
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112839651:112839651(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4057G>T
AA Mutation p.Glu1353Ter(p.E1353*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 216
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112838413:112838413(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2819C>A
AA Mutation p.Ser940Ter(p.S940*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 217
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112837900:112837900(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2306T>A
AA Mutation p.Leu769Ter(p.L769*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 218
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112839661:112839661(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4067C>G
AA Mutation p.Ser1356Ter(p.S1356*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 219
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112839175:112839175(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3581C>A
AA Mutation p.Ser1194Ter(p.S1194*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 220
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112840131:112840131(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4537G>T
AA Mutation p.Glu1513Ter(p.E1513*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 221
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112792504:112792504(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.704T>A
AA Mutation p.Leu235Ter(p.L235*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 222
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112839606:112839606(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs121913327
CDS Mutation c.4012C>T
AA Mutation p.Gln1338Ter(p.Q1338*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 223
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112819261:112819261(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1229T>A
AA Mutation p.Leu410Ter(p.L410*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 224
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112839171:112839171(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3577C>T
AA Mutation p.Gln1193Ter(p.Q1193*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 225
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112837885:112837885(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2291T>G
AA Mutation p.Leu764Ter(p.L764*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 226
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112839096:112839096(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3502G>T
AA Mutation p.Glu1168Ter(p.E1168*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 227
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112839436:112839436(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3842C>A
AA Mutation p.Ser1281Ter(p.S1281*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 228
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112839035:112839035(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3441C>G
AA Mutation p.Tyr1147Ter(p.Y1147*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 229
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112838740:112838740(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3146G>A
AA Mutation p.Trp1049Ter(p.W1049*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 230
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112839839:112839840(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.4247dupG
AA Mutation p.Ile1417HisfsTer6(p.I1417Hfs*6)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 231
Mutation Consequence frameshift_variant;splice_region_variant
Transcription ID ENST00000257430
Start 112755025:112755026(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.135_135+1insCT
AA Mutation p.Glu46LeufsTer25(p.E46Lfs*25)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 232
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112840254:112840255(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.4666dupA
AA Mutation p.Thr1556AsnfsTer3(p.T1556Nfs*3)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 233
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112839952:112839953(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.4359_4360insTT
AA Mutation p.Lys1454LeufsTer20(p.K1454Lfs*20)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 234
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112839899:112839900(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.4306_4307dupAG
AA Mutation p.Ser1436ArgfsTer38(p.S1436Rfs*38)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 235
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112827132:112827133(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.1434dupA
AA Mutation p.Leu479IlefsTer6(p.L479Ifs*6)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 236
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112839529:112839530(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.3937dupA
AA Mutation p.Thr1313AsnfsTer2(p.T1313Nfs*2)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 237
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112766334:112766335(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.147dupA
AA Mutation p.Gln50ThrfsTer7(p.Q50Tfs*7)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 238
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112839504:112839505(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.3911dupT
AA Mutation p.Ala1305SerfsTer10(p.A1305Sfs*10)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 239
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112839403:112839404(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.3814dupT
AA Mutation p.Ser1272PhefsTer4(p.S1272Ffs*4)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 240
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112840059:112840060(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.4467_4468insAATA
AA Mutation p.His1490AsnfsTer25(p.H1490Nfs*25)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 241
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112815531:112815532(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.875dupT
AA Mutation p.Leu292PhefsTer4(p.L292Ffs*4)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 242
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112840331:112840332(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.4738dupA
AA Mutation p.Ile1580AsnfsTer11(p.I1580Nfs*11)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 243
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112839978:112839979(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.4393_4394dupAG
AA Mutation p.Ser1465ArgfsTer9(p.S1465Rfs*9)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 244
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112839644:112839645(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.4051dupG
AA Mutation p.Ala1351GlyfsTer3(p.A1351Gfs*3)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 245
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112839875:112839876(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.4282_4283dupGG
AA Mutation p.Gln1429AspfsTer45(p.Q1429Dfs*45)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 246
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112838473:112838474(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.2881_2882dupAA
AA Mutation p.Asn961LysfsTer5(p.N961Kfs*5)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 247
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112780828:112780829(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.571dupT
AA Mutation p.Tyr191LeufsTer2(p.Y191Lfs*2)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 248
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112840091:112840092(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.4501dupT
AA Mutation p.Ser1501PhefsTer13(p.S1501Ffs*13)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 249
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112839653:112839654(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.4063_4064insTTTTT
AA Mutation p.Ser1355PhefsTer62(p.S1355Ffs*62)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 250
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112839556:112839557(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.3963dupC
AA Mutation p.Glu1322ArgfsTer10(p.E1322Rfs*10)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 251
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112827999:112828000(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.1620dupA
AA Mutation p.Gln541ThrfsTer19(p.Q541Tfs*19)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 252
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112839757:112839758(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.4164_4167dupTTCT
AA Mutation p.Val1390PhefsTer6(p.V1390Ffs*6)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 253
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112840059:112840060(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.4466_4467dupTA
AA Mutation p.His1490TyrfsTer18(p.H1490Yfs*18)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 254
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112837863:112837864(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.2274dupA
AA Mutation p.Ala759SerfsTer16(p.A759Sfs*16)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 255
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112840323:112840324(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.4731dupA
AA Mutation p.Cys1578MetfsTer13(p.C1578Mfs*13)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 256
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112838300:112838301(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.2706_2707insTCCT
AA Mutation p.Asp903SerfsTer2(p.D903Sfs*2)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 257
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112839452:112839453(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.3860_3861dupTA
AA Mutation p.Gly1288Ter(p.G1288*)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 258
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112839547:112839548(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.3954_3955dupTC
AA Mutation p.Pro1319LeufsTer3(p.P1319Lfs*3)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 259
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112840075:112840076(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.4483_4486dupAGTA
AA Mutation p.Thr1496LysfsTer19(p.T1496Kfs*19)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 260
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112840063:112840064(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.4473dupT
AA Mutation p.Ala1492CysfsTer22(p.A1492Cfs*22)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 261
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112837933:112837934(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.2342_2351dupCCAAGGCATC
AA Mutation p.His785GlnfsTer6(p.H785Qfs*6)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 262
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112838140:112838141(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.2548_2555dupAGAAGTTT
AA Mutation p.Arg854ValfsTer10(p.R854Vfs*10)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 263
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112838569:112838570(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.2976dupT
AA Mutation p.Lys993Ter(p.K993*)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 264
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112839741:112839742(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.4148dupT
AA Mutation p.Met1383IlefsTer3(p.M1383Ifs*3)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 265
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112839844:112839845(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.4253_4254dupTA
AA Mutation p.Ser1419Ter(p.S1419*)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 266
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112838793:112838794(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.3199_3200insT
AA Mutation p.Gln1067LeufsTer14(p.Q1067Lfs*14)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 267
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112838794:112838795(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.3200_3201insTAATTTATTGGTGT
AA Mutation p.Gln1067HisfsTer64(p.Q1067Hfs*64)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 268
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112780862:112780863(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.606dupA
AA Mutation p.Gln203ThrfsTer49(p.Q203Tfs*49)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 269
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112839749:112839750(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.4156_4159dupAGAT
AA Mutation p.Cys1387Ter(p.C1387*)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 270
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112838086:112838087(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.2493dupA
AA Mutation p.Pro832ThrfsTer12(p.P832Tfs*12)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 271
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112840060:112840061(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.4467dupA
AA Mutation p.His1490ThrfsTer24(p.H1490Tfs*24)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 272
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112838133:112838134(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.2544dupA
AA Mutation p.Asp849ArgfsTer2(p.D849Rfs*2)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 273
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112837920:112837921(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.2327_2328insCT
AA Mutation p.Asp777Ter(p.D777*)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 274
Mutation Consequence splice_donor_variant
Transcription ID ENST00000257430
Start 112827248:112827248(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1548+1G>A
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 275
Mutation Consequence splice_donor_variant
Transcription ID ENST00000257430
Start 112835166:112835166(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1958+1G>A
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 276
Mutation Consequence splice_donor_variant
Transcription ID ENST00000257430
Start 112828007:112828007(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1626+1G>C
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 277
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000257430
Start 112780788:112780788(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.532-2A>G
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 278
Mutation Consequence splice_donor_variant
Transcription ID ENST00000257430
Start 112819345:112819345(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1312+1G>C
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 279
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000257430
Start 112792445:112792445(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.646-1G>A
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 280
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000257430
Start 112801278:112801278(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.730-1G>A
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 281
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000257430
Start 112792445:112792445(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs78847145
CDS Mutation c.646-1G>T
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 282
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000257430
Start 112827107:112827107(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1409-1G>A
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 283
Mutation Consequence splice_donor_variant
Transcription ID ENST00000257430
Start 112819346:112819346(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1312+2T>A
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 284
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000257430
Start 112815494:112815494(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.835-1G>A
Mutation Classification Splice_Site
Feature Type Transcript

Rectum Cancer: Gene >> APC

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000257430
Start 112837725:112837725(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2131A>C
AA Mutation p.Ile711Leu(p.I711L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000257430
Start 112754897:112754897(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7G>A
AA Mutation p.Ala3Thr(p.A3T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000257430
Start 112819027:112819027(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs377665107
CDS Mutation c.995G>A
AA Mutation p.Arg332Gln(p.R332Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000257430
Start 112837747:112837747(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2153T>G
AA Mutation p.Ile718Ser(p.I718S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000257430
Start 112839281:112839281(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3687T>G
AA Mutation p.Asn1229Lys(p.N1229K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000257430
Start 112827933:112827933(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs371453363
CDS Mutation c.1553C>T
AA Mutation p.Thr518Met(p.T518M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000257430
Start 112843720:112843720(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8126G>T
AA Mutation p.Gly2709Val(p.G2709V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000257430
Start 112842886:112842886(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7292G>A
AA Mutation p.Arg2431Lys(p.R2431K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000257430
Start 112838715:112838715(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3121C>G
AA Mutation p.Gln1041Glu(p.Q1041E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000257430
Start 112767374:112767374(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.406G>A
AA Mutation p.Glu136Lys(p.E136K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000257430
Start 112837915:112837915(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2321A>G
AA Mutation p.Asp774Gly(p.D774G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000257430
Start 112839793:112839793(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs267600319
CDS Mutation c.4199C>T
AA Mutation p.Ser1400Leu(p.S1400L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000257430
Start 112843876:112843876(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs757874563
CDS Mutation c.8282C>T
AA Mutation p.Pro2761Leu(p.P2761L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000257430
Start 112815541:112815541(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.881C>T
AA Mutation p.Ser294Phe(p.S294F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000257430
Start 112838437:112838437(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2843C>A
AA Mutation p.Ser948Tyr(p.S948Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000257430
Start 112841671:112841671(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6077C>A
AA Mutation p.Ser2026Tyr(p.S2026Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence synonymous_variant
Transcription ID ENST00000257430
Start 112837724:112837724(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2130C>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 18
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112827947:112827947(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.1569delA
AA Mutation p.Gly524AlafsTer3(p.G524Afs*3)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 19
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112839549:112839549(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.3956delC
AA Mutation p.Pro1319LeufsTer2(p.P1319Lfs*2)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 20
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112840087:112840102(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.4495_4510delGGATTTTCTTGTTCAT
AA Mutation p.Gly1499ProfsTer3(p.G1499Pfs*3)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 21
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112839842:112839842(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.4248delC
AA Mutation p.Ile1417LeufsTer2(p.I1417Lfs*2)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 22
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112840075:112840075(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.4483delA
AA Mutation p.Ser1495ValfsTer12(p.S1495Vfs*12)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 23
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112840063:112840063(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.4469delA
AA Mutation p.His1490LeufsTer17(p.H1490Lfs*17)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 24
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112840303:112840303(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.4709delA
AA Mutation p.Asp1570ValfsTer6(p.D1570Vfs*6)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 25
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112840069:112840069(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.4476delC
AA Mutation p.Thr1493ArgfsTer14(p.T1493Rfs*14)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 26
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112839520:112839521(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.3928_3929delAA
AA Mutation p.Lys1310AspfsTer4(p.K1310Dfs*4)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 27
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112839783:112839784(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.4192_4193delAG
AA Mutation p.Arg1399PhefsTer9(p.R1399Ffs*9)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 28
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112839661:112839661(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.4067delC
AA Mutation p.Ser1356Ter(p.S1356*)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 29
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112839839:112839839(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.4245delT
AA Mutation p.Ser1415ArgfsTer4(p.S1415Rfs*4)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 30
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112839496:112839505(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.3902_3911delCCCTGCAAAT
AA Mutation p.Thr1301LysfsTer4(p.T1301Kfs*4)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 31
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112834972:112834972(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.1766delT
AA Mutation p.Leu589Ter(p.L589*)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 32
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112839625:112839625(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.4031delC
AA Mutation p.Ser1344Ter(p.S1344*)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 33
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112839687:112839687(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.4094delG
AA Mutation p.Gly1365ValfsTer50(p.G1365Vfs*50)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 34
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112838396:112838396(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.2803delT
AA Mutation p.Tyr935ThrfsTer20(p.Y935Tfs*20)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 35
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112838613:112838613(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.3022delA
AA Mutation p.Ile1008TyrfsTer14(p.I1008Yfs*14)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 36
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112839524:112839524(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.3930delG
AA Mutation p.Ile1311LeufsTer10(p.I1311Lfs*10)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 37
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112767308:112767315(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.340_347delCCTATGGG
AA Mutation p.Pro114PhefsTer22(p.P114Ffs*22)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 38
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112840330:112840333(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.4738_4741delATTT
AA Mutation p.Ile1580LeufsTer69(p.I1580Lfs*69)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 39
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112819133:112819134(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.1102_1103delGT
AA Mutation p.Val368IlefsTer9(p.V368Ifs*9)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 40
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112839599:112839599(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.4005delC
AA Mutation p.Ser1335ArgfsTer80(p.S1335Rfs*80)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 41
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112835124:112835127(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.1918_1921delCGGA
AA Mutation p.Arg640MetfsTer5(p.R640Mfs*5)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 42
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112838083:112838083(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.2489delT
AA Mutation p.Val830GlyfsTer12(p.V830Gfs*12)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 43
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112792487:112792491(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.688_692delCGTAT
AA Mutation p.Arg230ThrfsTer20(p.R230Tfs*20)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 44
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112819306:112819306(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.1275delA
AA Mutation p.Ala426LeufsTer28(p.A426Lfs*28)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 45
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112839929:112839929(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.4335delA
AA Mutation p.Ala1446LeufsTer27(p.A1446Lfs*27)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 46
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112839872:112839872(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.4280delC
AA Mutation p.Pro1427LeufsTer46(p.P1427Lfs*46)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 47
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112840234:112840234(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.4643delA
AA Mutation p.Asn1548ThrfsTer17(p.N1548Tfs*17)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 48
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112839833:112839833(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.4240delG
AA Mutation p.Val1414Ter(p.V1414*)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 49
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112839827:112839827(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.4233delT
AA Mutation p.Ser1411ArgfsTer4(p.S1411Rfs*4)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 50
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112839451:112839451(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.3859delA
AA Mutation p.Ile1287Ter(p.I1287*)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 51
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112838669:112838669(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.3077delA
AA Mutation p.Asn1026IlefsTer11(p.N1026Ifs*11)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 52
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112840055:112840055(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.4463delT
AA Mutation p.Leu1488TyrfsTer19(p.L1488Yfs*19)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 53
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112839477:112839477(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3883G>T
AA Mutation p.Glu1295Ter(p.E1295*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 54
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112838934:112838934(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs121913331
CDS Mutation c.3340C>T
AA Mutation p.Arg1114Ter(p.R1114*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 55
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112839693:112839693(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs121913328
CDS Mutation c.4099C>T
AA Mutation p.Gln1367Ter(p.Q1367*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 56
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112839409:112839409(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3815C>G
AA Mutation p.Ser1272Ter(p.S1272*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 57
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112839942:112839942(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs121913332
CDS Mutation c.4348C>T
AA Mutation p.Arg1450Ter(p.R1450*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 58
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112792494:112792494(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs397515734
CDS Mutation c.694C>T
AA Mutation p.Arg232Ter(p.R232*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 59
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112840057:112840057(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4463T>G
AA Mutation p.Leu1488Ter(p.L1488*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 60
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112839439:112839439(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3845C>A
AA Mutation p.Ser1282Ter(p.S1282*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 61
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112838220:112838220(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs121913333
CDS Mutation c.2626C>T
AA Mutation p.Arg876Ter(p.R876*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 62
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112834994:112834994(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1787C>G
AA Mutation p.Ser596Ter(p.S596*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 63
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112839576:112839576(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs398123121
CDS Mutation c.3982C>T
AA Mutation p.Gln1328Ter(p.Q1328*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 64
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112839783:112839783(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4189G>T
AA Mutation p.Glu1397Ter(p.E1397*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 65
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112839651:112839651(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4057G>T
AA Mutation p.Glu1353Ter(p.E1353*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 66
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112839879:112839879(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs74535574
CDS Mutation c.4285C>T
AA Mutation p.Gln1429Ter(p.Q1429*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 67
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112837602:112837602(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2008A>T
AA Mutation p.Lys670Ter(p.K670*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 68
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112839810:112839810(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs587782518
CDS Mutation c.4216C>T
AA Mutation p.Gln1406Ter(p.Q1406*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 69
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112815507:112815507(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs786201856
CDS Mutation c.847C>T
AA Mutation p.Arg283Ter(p.R283*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 70
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112819026:112819026(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs775126020
CDS Mutation c.994C>T
AA Mutation p.Arg332Ter(p.R332*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 71
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112839722:112839722(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4128T>A
AA Mutation p.Tyr1376Ter(p.Y1376*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 72
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112837863:112837863(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2269C>T
AA Mutation p.Gln757Ter(p.Q757*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 73
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112839726:112839726(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs121913329
CDS Mutation c.4132C>T
AA Mutation p.Gln1378Ter(p.Q1378*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 74
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112780895:112780895(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs587781392
CDS Mutation c.637C>T
AA Mutation p.Arg213Ter(p.R213*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 75
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112839372:112839372(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3778C>T
AA Mutation p.Gln1260Ter(p.Q1260*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 76
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112819314:112819314(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1282G>T
AA Mutation p.Glu428Ter(p.E428*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 77
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112839138:112839138(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3544A>T
AA Mutation p.Lys1182Ter(p.K1182*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 78
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112839519:112839519(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3925G>T
AA Mutation p.Glu1309Ter(p.E1309*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 79
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112839606:112839606(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs121913327
CDS Mutation c.4012C>T
AA Mutation p.Gln1338Ter(p.Q1338*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 80
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112838847:112838847(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3253A>T
AA Mutation p.Lys1085Ter(p.K1085*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 81
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112815564:112815564(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs137854568
CDS Mutation c.904C>T
AA Mutation p.Arg302Ter(p.R302*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 82
Mutation Consequence stop_gained;splice_region_variant
Transcription ID ENST00000257430
Start 112792446:112792446(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs62619935
CDS Mutation c.646C>T
AA Mutation p.Arg216Ter(p.R216*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 83
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112839558:112839558(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3964G>T
AA Mutation p.Glu1322Ter(p.E1322*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 84
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112839087:112839087(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3493A>T
AA Mutation p.Lys1165Ter(p.K1165*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 85
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112828919:112828919(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs137854574
CDS Mutation c.1690C>T
AA Mutation p.Arg564Ter(p.R564*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 86
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112839574:112839574(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3980C>A
AA Mutation p.Ser1327Ter(p.S1327*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 87
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112827194:112827194(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs137854580
CDS Mutation c.1495C>T
AA Mutation p.Arg499Ter(p.R499*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 88
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112839501:112839501(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3907C>T
AA Mutation p.Gln1303Ter(p.Q1303*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 89
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112839404:112839404(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3810T>A
AA Mutation p.Cys1270Ter(p.C1270*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 90
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112838985:112838985(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3391C>T
AA Mutation p.Gln1131Ter(p.Q1131*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 91
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112839528:112839528(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3934G>T
AA Mutation p.Gly1312Ter(p.G1312*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 92
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112835155:112835155(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1948G>T
AA Mutation p.Glu650Ter(p.E650*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 93
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112839627:112839627(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4033G>T
AA Mutation p.Glu1345Ter(p.E1345*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 94
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112838784:112838784(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3190G>T
AA Mutation p.Glu1064Ter(p.E1064*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 95
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112839510:112839510(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs121913462
CDS Mutation c.3916G>T
AA Mutation p.Glu1306Ter(p.E1306*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 96
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112819074:112819074(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1042C>T
AA Mutation p.Arg348Ter(p.R348*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 97
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112839661:112839661(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4067C>G
AA Mutation p.Ser1356Ter(p.S1356*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 98
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112837649:112837649(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2055G>A
AA Mutation p.Trp685Ter(p.W685*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 99
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112838007:112838007(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs587779783
CDS Mutation c.2413C>T
AA Mutation p.Arg805Ter(p.R805*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 100
Mutation Consequence stop_gained;splice_region_variant
Transcription ID ENST00000257430
Start 112828004:112828004(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1624C>T
AA Mutation p.Gln542Ter(p.Q542*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 101
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112834955:112834955(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1748C>A
AA Mutation p.Ser583Ter(p.S583*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 102
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112840200:112840200(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4606G>T
AA Mutation p.Glu1536Ter(p.E1536*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 103
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112839450:112839450(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3856G>T
AA Mutation p.Glu1286Ter(p.E1286*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 104
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112838104:112838104(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs79512956
CDS Mutation c.2510C>A
AA Mutation p.Ser837Ter(p.S837*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 105
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112839516:112839516(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3922A>T
AA Mutation p.Lys1308Ter(p.K1308*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 106
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112839474:112839474(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3880C>T
AA Mutation p.Gln1294Ter(p.Q1294*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 107
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112839219:112839219(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3625G>T
AA Mutation p.Glu1209Ter(p.E1209*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 108
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112839456:112839456(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3862G>T
AA Mutation p.Gly1288Ter(p.G1288*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 109
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112839793:112839793(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4199C>A
AA Mutation p.Ser1400Ter(p.S1400*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 110
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112842204:112842204(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6610C>T
AA Mutation p.Arg2204Ter(p.R2204*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 111
Mutation Consequence stop_gained
Transcription ID ENST00000257430
Start 112842303:112842303(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs768922431
CDS Mutation c.6709C>T
AA Mutation p.Arg2237Ter(p.R2237*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 112
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112828966:112828967(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.1742dupA
AA Mutation p.Glu582GlyfsTer20(p.E582Gfs*20)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 113
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112827136:112827137(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.1438dupC
AA Mutation p.Gln480ProfsTer5(p.Q480Pfs*5)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 114
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112839561:112839562(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.3969dupT
AA Mutation p.Pro1324SerfsTer8(p.P1324Sfs*8)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 115
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112840254:112840255(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.4666dupA
AA Mutation p.Thr1556AsnfsTer3(p.T1556Nfs*3)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 116
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112839324:112839325(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.3734dupA
AA Mutation p.Ala1246GlyfsTer10(p.A1246Gfs*10)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 117
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112839732:112839733(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.4142dupC
AA Mutation p.Leu1382ThrfsTer4(p.L1382Tfs*4)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 118
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112838150:112838151(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.2563_2564dupGA
AA Mutation p.Arg856AsnfsTer6(p.R856Nfs*6)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 119
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112840063:112840064(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.4473dupT
AA Mutation p.Ala1492CysfsTer22(p.A1492Cfs*22)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 120
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112838133:112838134(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.2544dupA
AA Mutation p.Asp849ArgfsTer2(p.D849Rfs*2)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 121
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112839953:112839954(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.4364dupA
AA Mutation p.Asn1455LysfsTer2(p.N1455Kfs*2)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 122
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112839439:112839440(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.3847_3851dupGCTGA
AA Mutation p.Asp1285LeufsTer5(p.D1285Lfs*5)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 123
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112838718:112838719(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.3124_3125insT
AA Mutation p.Ser1042MetfsTer6(p.S1042Mfs*6)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 124
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112838100:112838101(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.2507dupC
AA Mutation p.Ser837IlefsTer7(p.S837Ifs*7)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 125
Mutation Consequence frameshift_variant
Transcription ID ENST00000257430
Start 112839778:112839779(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.4188dupT
AA Mutation p.Glu1397Ter(p.E1397*)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 126
Mutation Consequence splice_donor_variant
Transcription ID ENST00000257430
Start 112819345:112819345(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1312+1G>A
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 127
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000257430
Start 112834950:112834950(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1744-1G>A
Mutation Classification Splice_Site
Feature Type Transcript