Primary Site >> Stomach Cancer

Gene >> LRP1

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000243077
Start 57180441:57180441(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs766276294
CDS Mutation c.5348G>A
AA Mutation p.Arg1783Gln(p.R1783Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000243077
Start 57154228:57154228(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.862G>A
AA Mutation p.Asp288Asn(p.D288N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000243077
Start 57177498:57177498(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs777476570
CDS Mutation c.4268G>A
AA Mutation p.Arg1423His(p.R1423H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000243077
Start 57195059:57195059(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8266A>G
AA Mutation p.Ser2756Gly(p.S2756G)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000243077
Start 57184860:57184860(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6208G>A
AA Mutation p.Asp2070Asn(p.D2070N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000243077
Start 57198538:57198538(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs200382578
CDS Mutation c.9544G>A
AA Mutation p.Val3182Ile(p.V3182I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000243077
Start 57179817:57179817(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5002G>A
AA Mutation p.Val1668Ile(p.V1668I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000243077
Start 57173245:57173245(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs761523540
CDS Mutation c.3241C>T
AA Mutation p.Arg1081Cys(p.R1081C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000243077
Start 57177215:57177215(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4166C>A
AA Mutation p.Pro1389Gln(p.P1389Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000243077
Start 57177473:57177473(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4243G>A
AA Mutation p.Ala1415Thr(p.A1415T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000243077
Start 57184388:57184388(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs148823753
CDS Mutation c.6122C>T
AA Mutation p.Thr2041Met(p.T2041M)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000243077
Start 57184381:57184381(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs61734594
CDS Mutation c.6115G>A
AA Mutation p.Asp2039Asn(p.D2039N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000243077
Start 57206620:57206620(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs766814327
CDS Mutation c.11738G>A
AA Mutation p.Arg3913His(p.R3913H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000243077
Start 57211546:57211546(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.13151G>A
AA Mutation p.Gly4384Asp(p.G4384D)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000243077
Start 57156272:57156272(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1406G>A
AA Mutation p.Arg469His(p.R469H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000243077
Start 57159990:57159990(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1964T>C
AA Mutation p.Val655Ala(p.V655A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000243077
Start 57167494:57167494(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2965T>C
AA Mutation p.Cys989Arg(p.C989R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000243077
Start 57179427:57179427(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4837G>A
AA Mutation p.Asp1613Asn(p.D1613N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000243077
Start 57141440:57141440(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.257T>C
AA Mutation p.Val86Ala(p.V86A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000243077
Start 57161107:57161107(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2194G>T
AA Mutation p.Asp732Tyr(p.D732Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000243077
Start 57204650:57204650(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11095C>T
AA Mutation p.Arg3699Trp(p.R3699W)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000243077
Start 57190962:57190962(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7189A>G
AA Mutation p.Thr2397Ala(p.T2397A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000243077
Start 57178558:57178558(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4561C>A
AA Mutation p.Gln1521Lys(p.Q1521K)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 24
Mutation Consequence missense_variant
Transcription ID ENST00000243077
Start 57180697:57180697(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs752838145
CDS Mutation c.5417C>T
AA Mutation p.Ser1806Leu(p.S1806L)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 25
Mutation Consequence missense_variant
Transcription ID ENST00000243077
Start 57178906:57178906(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4623G>C
AA Mutation p.Glu1541Asp(p.E1541D)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 26
Mutation Consequence missense_variant
Transcription ID ENST00000243077
Start 57184151:57184151(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs766366256
CDS Mutation c.5996G>A
AA Mutation p.Arg1999His(p.R1999H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 27
Mutation Consequence missense_variant
Transcription ID ENST00000243077
Start 57203252:57203252(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs750976376
CDS Mutation c.10783G>A
AA Mutation p.Asp3595Asn(p.D3595N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 28
Mutation Consequence missense_variant
Transcription ID ENST00000243077
Start 57173298:57173298(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3294G>T
AA Mutation p.Glu1098Asp(p.E1098D)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 29
Mutation Consequence missense_variant
Transcription ID ENST00000243077
Start 57160945:57160945(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2032C>T
AA Mutation p.Arg678Trp(p.R678W)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 30
Mutation Consequence missense_variant
Transcription ID ENST00000243077
Start 57158521:57158521(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1681C>A
AA Mutation p.Pro561Thr(p.P561T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 31
Mutation Consequence missense_variant
Transcription ID ENST00000243077
Start 57143699:57143699(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.349C>T
AA Mutation p.Arg117Cys(p.R117C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 32
Mutation Consequence missense_variant
Transcription ID ENST00000243077
Start 57143724:57143724(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.374T>C
AA Mutation p.Val125Ala(p.V125A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 33
Mutation Consequence missense_variant
Transcription ID ENST00000243077
Start 57145332:57145332(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs756612365
CDS Mutation c.683G>A
AA Mutation p.Arg228Gln(p.R228Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 34
Mutation Consequence missense_variant
Transcription ID ENST00000243077
Start 57196179:57196179(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs763968301
CDS Mutation c.8794G>A
AA Mutation p.Asp2932Asn(p.D2932N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 35
Mutation Consequence missense_variant
Transcription ID ENST00000243077
Start 57194398:57194398(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs769966821
CDS Mutation c.7963G>A
AA Mutation p.Val2655Met(p.V2655M)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 36
Mutation Consequence missense_variant
Transcription ID ENST00000243077
Start 57198478:57198478(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9484A>G
AA Mutation p.Thr3162Ala(p.T3162A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 37
Mutation Consequence missense_variant
Transcription ID ENST00000243077
Start 57173798:57173798(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3365C>T
AA Mutation p.Ala1122Val(p.A1122V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 38
Mutation Consequence missense_variant
Transcription ID ENST00000243077
Start 57208142:57208142(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11964G>T
AA Mutation p.Lys3988Asn(p.K3988N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 39
Mutation Consequence missense_variant
Transcription ID ENST00000243077
Start 57161047:57161047(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs781655834
CDS Mutation c.2134C>T
AA Mutation p.Arg712Cys(p.R712C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 40
Mutation Consequence missense_variant
Transcription ID ENST00000243077
Start 57194456:57194456(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8021A>G
AA Mutation p.Asp2674Gly(p.D2674G)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 41
Mutation Consequence missense_variant
Transcription ID ENST00000243077
Start 57173297:57173297(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3293A>G
AA Mutation p.Glu1098Gly(p.E1098G)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 42
Mutation Consequence missense_variant
Transcription ID ENST00000243077
Start 57138528:57138528(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs146149784
CDS Mutation c.137G>A
AA Mutation p.Arg46Gln(p.R46Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 43
Mutation Consequence missense_variant
Transcription ID ENST00000243077
Start 57162492:57162492(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs755987592
CDS Mutation c.2378G>A
AA Mutation p.Arg793Gln(p.R793Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 44
Mutation Consequence missense_variant
Transcription ID ENST00000243077
Start 57179491:57179491(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4901T>C
AA Mutation p.Val1634Ala(p.V1634A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 45
Mutation Consequence missense_variant
Transcription ID ENST00000243077
Start 57154364:57154364(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.998C>T
AA Mutation p.Ala333Val(p.A333V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 46
Mutation Consequence missense_variant
Transcription ID ENST00000243077
Start 57187354:57187354(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6929A>G
AA Mutation p.His2310Arg(p.H2310R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 47
Mutation Consequence synonymous_variant
Transcription ID ENST00000243077
Start 57193669:57193669(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs781505524
CDS Mutation c.7788C>T
Mutation Classification Silent
Feature Type Transcript
ID 48
Mutation Consequence synonymous_variant
Transcription ID ENST00000243077
Start 57208085:57208085(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs752452662
CDS Mutation c.11907C>T
Mutation Classification Silent
Feature Type Transcript
ID 49
Mutation Consequence synonymous_variant
Transcription ID ENST00000243077
Start 57190937:57190937(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7164C>T
Mutation Classification Silent
Feature Type Transcript
ID 50
Mutation Consequence synonymous_variant
Transcription ID ENST00000243077
Start 57195969:57195969(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs1800155
CDS Mutation c.8667C>T
Mutation Classification Silent
Feature Type Transcript
ID 51
Mutation Consequence synonymous_variant
Transcription ID ENST00000243077
Start 57198248:57198248(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.9375C>A
Mutation Classification Silent
Feature Type Transcript
ID 52
Mutation Consequence synonymous_variant
Transcription ID ENST00000243077
Start 57200513:57200513(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.10086C>T
Mutation Classification Silent
Feature Type Transcript
ID 53
Mutation Consequence synonymous_variant
Transcription ID ENST00000243077
Start 57180740:57180740(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5460C>T
Mutation Classification Silent
Feature Type Transcript
ID 54
Mutation Consequence synonymous_variant
Transcription ID ENST00000243077
Start 57173880:57173880(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs780553447
CDS Mutation c.3447G>A
Mutation Classification Silent
Feature Type Transcript
ID 55
Mutation Consequence synonymous_variant
Transcription ID ENST00000243077
Start 57208762:57208762(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs776562368
CDS Mutation c.12090G>A
Mutation Classification Silent
Feature Type Transcript
ID 56
Mutation Consequence synonymous_variant
Transcription ID ENST00000243077
Start 57185108:57185108(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs144748998
CDS Mutation c.6366C>T
Mutation Classification Silent
Feature Type Transcript
ID 57
Mutation Consequence synonymous_variant
Transcription ID ENST00000243077
Start 57167042:57167042(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs78054559
CDS Mutation c.2910G>A
Mutation Classification Silent
Feature Type Transcript
ID 58
Mutation Consequence synonymous_variant
Transcription ID ENST00000243077
Start 57205397:57205397(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs371672629
CDS Mutation c.11382C>T
Mutation Classification Silent
Feature Type Transcript
ID 59
Mutation Consequence synonymous_variant
Transcription ID ENST00000243077
Start 57211243:57211243(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.12984C>T
Mutation Classification Silent
Feature Type Transcript
ID 60
Mutation Consequence synonymous_variant
Transcription ID ENST00000243077
Start 57195725:57195725(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs745849478
CDS Mutation c.8505C>T
Mutation Classification Silent
Feature Type Transcript
ID 61
Mutation Consequence synonymous_variant
Transcription ID ENST00000243077
Start 57211940:57211940(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.13272C>T
Mutation Classification Silent
Feature Type Transcript
ID 62
Mutation Consequence synonymous_variant
Transcription ID ENST00000243077
Start 57156210:57156210(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs150414361
CDS Mutation c.1344C>T
Mutation Classification Silent
Feature Type Transcript
ID 63
Mutation Consequence synonymous_variant
Transcription ID ENST00000243077
Start 57184152:57184152(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5997C>A
Mutation Classification Silent
Feature Type Transcript
ID 64
Mutation Consequence synonymous_variant
Transcription ID ENST00000243077
Start 57206534:57206534(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11652C>G
Mutation Classification Silent
Feature Type Transcript
ID 65
Mutation Consequence synonymous_variant
Transcription ID ENST00000243077
Start 57177586:57177586(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs771290632
CDS Mutation c.4356C>T
Mutation Classification Silent
Feature Type Transcript
ID 66
Mutation Consequence synonymous_variant
Transcription ID ENST00000243077
Start 57179819:57179819(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5004C>T
Mutation Classification Silent
Feature Type Transcript
ID 67
Mutation Consequence synonymous_variant
Transcription ID ENST00000243077
Start 57198230:57198230(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs780428970
CDS Mutation c.9357C>T
Mutation Classification Silent
Feature Type Transcript
ID 68
Mutation Consequence synonymous_variant
Transcription ID ENST00000243077
Start 57158568:57158568(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1728C>A
Mutation Classification Silent
Feature Type Transcript
ID 69
Mutation Consequence synonymous_variant
Transcription ID ENST00000243077
Start 57185706:57185706(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs757881461
CDS Mutation c.6639C>T
Mutation Classification Silent
Feature Type Transcript
ID 70
Mutation Consequence synonymous_variant
Transcription ID ENST00000243077
Start 57175623:57175623(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs773532015
CDS Mutation c.3711C>T
Mutation Classification Silent
Feature Type Transcript
ID 71
Mutation Consequence synonymous_variant
Transcription ID ENST00000243077
Start 57201802:57201802(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs138672668
CDS Mutation c.10491C>T
Mutation Classification Silent
Feature Type Transcript
ID 72
Mutation Consequence synonymous_variant
Transcription ID ENST00000243077
Start 57211934:57211934(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.13266C>A
Mutation Classification Silent
Feature Type Transcript
ID 73
Mutation Consequence frameshift_variant
Transcription ID ENST00000243077
Start 57178459:57178459(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.4468delG
AA Mutation p.Glu1490ArgfsTer80(p.E1490Rfs*80)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 74
Mutation Consequence frameshift_variant
Transcription ID ENST00000243077
Start 57162440:57162440(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.2331delC
AA Mutation p.Thr778LeufsTer2(p.T778Lfs*2)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 75
Mutation Consequence frameshift_variant
Transcription ID ENST00000243077
Start 57166940:57166940(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.2814delC
AA Mutation p.Asn939ThrfsTer41(p.N939Tfs*41)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 76
Mutation Consequence frameshift_variant
Transcription ID ENST00000243077
Start 57162473:57162473(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.2364delC
AA Mutation p.Ile789SerfsTer21(p.I789Sfs*21)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 77
Mutation Consequence stop_gained
Transcription ID ENST00000243077
Start 57201899:57201899(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10588G>T
AA Mutation p.Glu3530Ter(p.E3530*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 78
Mutation Consequence stop_gained
Transcription ID ENST00000243077
Start 57156280:57156280(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1414C>T
AA Mutation p.Arg472Ter(p.R472*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 79
Mutation Consequence frameshift_variant
Transcription ID ENST00000243077
Start 57162472:57162473(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.2364dupC
AA Mutation p.Ile789HisfsTer3(p.I789Hfs*3)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript