Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> BRCA2

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000380152
Start 32332913:32332913(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1435G>T
AA Mutation p.Asp479Tyr(p.D479Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000380152
Start 32337930:32337930(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs80358606
CDS Mutation c.3575T>G
AA Mutation p.Phe1192Cys(p.F1192C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000380152
Start 32398469:32398469(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs778694116
CDS Mutation c.9956C>A
AA Mutation p.Ser3319Tyr(p.S3319Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000380152
Start 32340236:32340236(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5881A>G
AA Mutation p.Ser1961Gly(p.S1961G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000380152
Start 32340618:32340618(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6263C>G
AA Mutation p.Thr2088Ser(p.T2088S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000380152
Start 32330932:32330932(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs372188754
CDS Mutation c.695A>G
AA Mutation p.Tyr232Cys(p.Y232C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000380152
Start 32339045:32339045(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4690G>A
AA Mutation p.Ala1564Thr(p.A1564T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000380152
Start 32338391:32338391(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4036A>G
AA Mutation p.Thr1346Ala(p.T1346A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000380152
Start 32355160:32355160(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs80358955
CDS Mutation c.7307A>G
AA Mutation p.Asn2436Ser(p.N2436S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000380152
Start 32336987:32336987(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2632G>A
AA Mutation p.Asp878Asn(p.D878N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000380152
Start 32370993:32370993(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs80359105
CDS Mutation c.8525G>A
AA Mutation p.Arg2842His(p.R2842H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000380152
Start 32398216:32398216(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9703G>A
AA Mutation p.Ala3235Thr(p.A3235T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000380152
Start 32336850:32336850(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2495A>G
AA Mutation p.Glu832Gly(p.E832G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000380152
Start 32326597:32326597(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.615T>G
AA Mutation p.Ser205Arg(p.S205R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000380152
Start 32338658:32338658(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4303A>C
AA Mutation p.Asn1435His(p.N1435H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000380152
Start 32325174:32325174(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.415C>G
AA Mutation p.Leu139Val(p.L139V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000380152
Start 32332319:32332319(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.841G>T
AA Mutation p.Asp281Tyr(p.D281Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000380152
Start 32332812:32332812(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs786202373
CDS Mutation c.1334C>A
AA Mutation p.Ser445Tyr(p.S445Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000380152
Start 32333316:32333316(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs587780646
CDS Mutation c.1838T>G
AA Mutation p.Leu613Arg(p.L613R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000380152
Start 32337056:32337056(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2701C>A
AA Mutation p.Leu901Ile(p.L901I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000380152
Start 32338409:32338409(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs80358655
CDS Mutation c.4054G>T
AA Mutation p.Asp1352Tyr(p.D1352Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000380152
Start 32339627:32339627(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5272A>C
AA Mutation p.Asn1758His(p.N1758H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000380152
Start 32362621:32362621(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7904A>G
AA Mutation p.Glu2635Gly(p.E2635G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 24
Mutation Consequence missense_variant
Transcription ID ENST00000380152
Start 32336277:32336277(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1922C>A
AA Mutation p.Ser641Tyr(p.S641Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 25
Mutation Consequence missense_variant
Transcription ID ENST00000380152
Start 32356551:32356551(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs80358982
CDS Mutation c.7559G>A
AA Mutation p.Arg2520Gln(p.R2520Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 26
Mutation Consequence missense_variant
Transcription ID ENST00000380152
Start 32379420:32379420(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8858A>C
AA Mutation p.Glu2953Ala(p.E2953A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 27
Mutation Consequence missense_variant
Transcription ID ENST00000380152
Start 32363184:32363184(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7982A>T
AA Mutation p.Asp2661Val(p.D2661V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 28
Mutation Consequence missense_variant
Transcription ID ENST00000380152
Start 32398401:32398401(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.9888G>T
AA Mutation p.Lys3296Asn(p.K3296N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 29
Mutation Consequence missense_variant
Transcription ID ENST00000380152
Start 32339582:32339582(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5227A>C
AA Mutation p.Ser1743Arg(p.S1743R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 30
Mutation Consequence missense_variant
Transcription ID ENST00000380152
Start 32332474:32332474(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.996T>G
AA Mutation p.Ile332Met(p.I332M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 31
Mutation Consequence missense_variant
Transcription ID ENST00000380152
Start 32340828:32340828(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6473T>G
AA Mutation p.Phe2158Cys(p.F2158C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 32
Mutation Consequence missense_variant
Transcription ID ENST00000380152
Start 32380142:32380142(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9253A>G
AA Mutation p.Thr3085Ala(p.T3085A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 33
Mutation Consequence missense_variant
Transcription ID ENST00000380152
Start 32326147:32326147(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs113114005
CDS Mutation c.472T>C
AA Mutation p.Ser158Pro(p.S158P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 34
Mutation Consequence missense_variant
Transcription ID ENST00000380152
Start 32379767:32379767(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs751787816
CDS Mutation c.8971C>T
AA Mutation p.Arg2991Cys(p.R2991C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 35
Mutation Consequence missense_variant
Transcription ID ENST00000380152
Start 32336651:32336651(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2296G>A
AA Mutation p.Ala766Thr(p.A766T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 36
Mutation Consequence synonymous_variant
Transcription ID ENST00000380152
Start 32340646:32340646(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs369340015
CDS Mutation c.6291G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 37
Mutation Consequence synonymous_variant
Transcription ID ENST00000380152
Start 32336311:32336311(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1956T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 38
Mutation Consequence synonymous_variant
Transcription ID ENST00000380152
Start 32333011:32333011(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1533A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 39
Mutation Consequence synonymous_variant
Transcription ID ENST00000380152
Start 32355260:32355260(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7407T>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 40
Mutation Consequence synonymous_variant
Transcription ID ENST00000380152
Start 32398569:32398569(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10056T>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 41
Mutation Consequence synonymous_variant
Transcription ID ENST00000380152
Start 32338534:32338534(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs770531115
CDS Mutation c.4179G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 42
Mutation Consequence synonymous_variant
Transcription ID ENST00000380152
Start 32397002:32397002(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs755890067
CDS Mutation c.9606G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 43
Mutation Consequence frameshift_variant
Transcription ID ENST00000380152
Start 32339422:32339422(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.5073delA
AA Mutation p.Lys1691AsnfsTer15(p.K1691Nfs*15)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 44
Mutation Consequence frameshift_variant
Transcription ID ENST00000380152
Start 32363251:32363251(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.8053delA
AA Mutation p.Thr2685HisfsTer9(p.T2685Hfs*9)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 45
Mutation Consequence frameshift_variant
Transcription ID ENST00000380152
Start 32339700:32339700(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.5351delA
AA Mutation p.Asn1784ThrfsTer7(p.N1784Tfs*7)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 46
Mutation Consequence frameshift_variant
Transcription ID ENST00000380152
Start 32332429:32332429(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.956delA
AA Mutation p.Asn319IlefsTer5(p.N319Ifs*5)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 47
Mutation Consequence frameshift_variant
Transcription ID ENST00000380152
Start 32316501:32316501(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.45delT
AA Mutation p.Phe15LeufsTer10(p.F15Lfs*10)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 48
Mutation Consequence frameshift_variant
Transcription ID ENST00000380152
Start 32398756:32398756(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.10248delA
AA Mutation p.Lys3416AsnfsTer11(p.K3416Nfs*11)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 49
Mutation Consequence frameshift_variant
Transcription ID ENST00000380152
Start 32339277:32339277(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.4925delA
AA Mutation p.Asn1642MetfsTer2(p.N1642Mfs*2)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 50
Mutation Consequence frameshift_variant
Transcription ID ENST00000380152
Start 32338982:32338982(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.4631delA
AA Mutation p.Asn1544ThrfsTer24(p.N1544Tfs*24)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 51
Mutation Consequence stop_gained
Transcription ID ENST00000380152
Start 32379787:32379787(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs397508028
CDS Mutation c.8991T>G
AA Mutation p.Tyr2997Ter(p.Y2997*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 52
Mutation Consequence stop_gained
Transcription ID ENST00000380152
Start 32338832:32338832(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4477G>T
AA Mutation p.Glu1493Ter(p.E1493*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 53
Mutation Consequence stop_gained
Transcription ID ENST00000380152
Start 32333006:32333006(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs80358438
CDS Mutation c.1528G>T
AA Mutation p.Glu510Ter(p.E510*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 54
Mutation Consequence stop_gained
Transcription ID ENST00000380152
Start 32319298:32319298(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs397507646
CDS Mutation c.289G>T
AA Mutation p.Glu97Ter(p.E97*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 55
Mutation Consequence stop_gained
Transcription ID ENST00000380152
Start 32357919:32357919(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs41293509
CDS Mutation c.7795G>T
AA Mutation p.Glu2599Ter(p.E2599*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 56
Mutation Consequence frameshift_variant
Transcription ID ENST00000380152
Start 32356530:32356531(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.7543dupA
AA Mutation p.Thr2515AsnfsTer24(p.T2515Nfs*24)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 57
Mutation Consequence frameshift_variant
Transcription ID ENST00000380152
Start 32337305:32337306(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.2957dupA
AA Mutation p.Asn986LysfsTer2(p.N986Kfs*2)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 58
Mutation Consequence frameshift_variant
Transcription ID ENST00000380152
Start 32398452:32398453(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.9945dupA
AA Mutation p.Glu3316ArgfsTer11(p.E3316Rfs*11)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 59
Mutation Consequence frameshift_variant
Transcription ID ENST00000380152
Start 32333199:32333200(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.1721_1722insTTTAAAGTTTGGATCA
AA Mutation p.Leu574PhefsTer21(p.L574Ffs*21)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 60
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000380152
Start 32332271:32332271(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.794-1G>A
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 61
Mutation Consequence inframe_deletion
Transcription ID ENST00000380152
Start 32337311:32337313(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.2959_2961delAAT
AA Mutation p.Asn987del(p.N987del)
Mutation Classification In_Frame_Del
Feature Type Transcript
Mutation ID 62
Mutation Consequence inframe_insertion
Transcription ID ENST00000380152
Start 32336517:32336518(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.2162_2163insTGAGAGATT
AA Mutation p.Pro721_Lys722insGluArgLeu(p.P721_K722insERL)
Mutation Classification In_Frame_Ins
Feature Type Transcript

Rectum Cancer: Gene >> BRCA2

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000380152
Start 32337641:32337641(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3286G>A
AA Mutation p.Asp1096Asn(p.D1096N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000380152
Start 32337643:32337643(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3288T>G
AA Mutation p.Asp1096Glu(p.D1096E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000380152
Start 32332520:32332520(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1042G>A
AA Mutation p.Val348Met(p.V348M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000380152
Start 32398715:32398715(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs55853199
CDS Mutation c.10202C>T
AA Mutation p.Thr3401Met(p.T3401M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000380152
Start 32332846:32332846(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1368G>T
AA Mutation p.Glu456Asp(p.E456D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000380152
Start 32339992:32339992(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5637G>T
AA Mutation p.Glu1879Asp(p.E1879D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000380152
Start 32340405:32340405(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6050A>C
AA Mutation p.Lys2017Thr(p.K2017T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000380152
Start 32341007:32341007(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6652G>T
AA Mutation p.Asp2218Tyr(p.D2218Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000380152
Start 32341083:32341083(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6728C>A
AA Mutation p.Ser2243Tyr(p.S2243Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000380152
Start 32379843:32379843(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9047C>A
AA Mutation p.Ser3016Tyr(p.S3016Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000380152
Start 32354899:32354899(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7046T>G
AA Mutation p.Phe2349Cys(p.F2349C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000380152
Start 32336519:32336519(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2164A>C
AA Mutation p.Lys722Gln(p.K722Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000380152
Start 32337496:32337496(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3141T>G
AA Mutation p.Ile1047Met(p.I1047M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000380152
Start 32339145:32339145(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4790C>A
AA Mutation p.Ser1597Tyr(p.S1597Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000380152
Start 32354985:32354985(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7132T>G
AA Mutation p.Ser2378Ala(p.S2378A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000380152
Start 32356473:32356473(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs80358973
CDS Mutation c.7481G>A
AA Mutation p.Arg2494Gln(p.R2494Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000380152
Start 32363211:32363211(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs80359035
CDS Mutation c.8009C>T
AA Mutation p.Ser2670Leu(p.S2670L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000380152
Start 32396935:32396935(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9539T>G
AA Mutation p.Leu3180Arg(p.L3180R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence synonymous_variant
Transcription ID ENST00000380152
Start 32337742:32337742(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3387G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 20
Mutation Consequence synonymous_variant
Transcription ID ENST00000380152
Start 32332528:32332528(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1050A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 21
Mutation Consequence frameshift_variant
Transcription ID ENST00000380152
Start 32339654:32339654(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.5301delA
AA Mutation p.Lys1767AsnfsTer10(p.K1767Nfs*10)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 22
Mutation Consequence stop_gained
Transcription ID ENST00000380152
Start 32398205:32398205(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9692C>A
AA Mutation p.Ser3231Ter(p.S3231*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 23
Mutation Consequence stop_gained
Transcription ID ENST00000380152
Start 32319154:32319154(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs80358435
CDS Mutation c.145G>T
AA Mutation p.Glu49Ter(p.E49*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 24
Mutation Consequence frameshift_variant
Transcription ID ENST00000380152
Start 32338518:32338519(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.4169dupT
AA Mutation p.Leu1390PhefsTer13(p.L1390Ffs*13)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript