Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> EP400

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000389562
Start 132028044:132028044(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs754032425
CDS Mutation c.5137C>A
AA Mutation p.Arg1713Ser(p.R1713S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000389562
Start 131961843:131961843(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1224G>T
AA Mutation p.Lys408Asn(p.K408N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000389562
Start 132005158:132005158(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2909A>G
AA Mutation p.Asp970Gly(p.D970G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000389562
Start 132013127:132013127(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs773523648
CDS Mutation c.3560G>A
AA Mutation p.Arg1187His(p.R1187H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000389562
Start 132013891:132013891(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3901G>A
AA Mutation p.Glu1301Lys(p.E1301K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000389562
Start 132045782:132045782(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7082A>T
AA Mutation p.His2361Leu(p.H2361L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000389562
Start 132006165:132006165(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs771510250
CDS Mutation c.2989G>A
AA Mutation p.Asp997Asn(p.D997N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000389562
Start 131961110:131961110(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs376030344
CDS Mutation c.491G>A
AA Mutation p.Ser164Asn(p.S164N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000389562
Start 132032055:132032055(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5857G>A
AA Mutation p.Val1953Met(p.V1953M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000389562
Start 131960624:131960624(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5A>G
AA Mutation p.His2Arg(p.H2R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000389562
Start 131991436:131991436(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs377249323
CDS Mutation c.2659G>A
AA Mutation p.Ala887Thr(p.A887T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000389562
Start 131982368:131982368(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1819C>T
AA Mutation p.Pro607Ser(p.P607S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000389562
Start 132020089:132020089(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4318C>T
AA Mutation p.Arg1440Cys(p.R1440C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000389562
Start 132027442:132027442(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs146849627
CDS Mutation c.5020G>A
AA Mutation p.Val1674Ile(p.V1674I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000389562
Start 131979706:131979706(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs147304028
CDS Mutation c.1348G>A
AA Mutation p.Ala450Thr(p.A450T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000389562
Start 132066873:132066873(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8653G>A
AA Mutation p.Val2885Ile(p.V2885I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000389562
Start 131960647:131960647(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs566501800
CDS Mutation c.28G>A
AA Mutation p.Val10Ile(p.V10I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000389562
Start 132013862:132013862(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs761082851
CDS Mutation c.3872G>A
AA Mutation p.Arg1291His(p.R1291H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000389562
Start 132045550:132045550(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7016C>T
AA Mutation p.Ala2339Val(p.A2339V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000389562
Start 132017575:132017575(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3964C>A
AA Mutation p.Leu1322Met(p.L1322M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000389562
Start 132013608:132013608(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3730G>A
AA Mutation p.Ala1244Thr(p.A1244T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000389562
Start 132066832:132066832(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8612A>G
AA Mutation p.Gln2871Arg(p.Q2871R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000389562
Start 131986785:131986785(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs146717913
CDS Mutation c.2201C>T
AA Mutation p.Thr734Met(p.T734M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 24
Mutation Consequence missense_variant
Transcription ID ENST00000389562
Start 131961604:131961604(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.985C>A
AA Mutation p.Pro329Thr(p.P329T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 25
Mutation Consequence missense_variant
Transcription ID ENST00000389562
Start 131986536:131986536(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1952C>A
AA Mutation p.Pro651His(p.P651H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 26
Mutation Consequence missense_variant
Transcription ID ENST00000389562
Start 132043371:132043371(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6275C>A
AA Mutation p.Pro2092Gln(p.P2092Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 27
Mutation Consequence missense_variant
Transcription ID ENST00000389562
Start 131987793:131987793(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2312G>A
AA Mutation p.Arg771His(p.R771H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 28
Mutation Consequence missense_variant
Transcription ID ENST00000389562
Start 132028123:132028123(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5216G>A
AA Mutation p.Cys1739Tyr(p.C1739Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 29
Mutation Consequence missense_variant
Transcription ID ENST00000389562
Start 132013051:132013051(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3484T>C
AA Mutation p.Tyr1162His(p.Y1162H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 30
Mutation Consequence missense_variant
Transcription ID ENST00000389562
Start 131990057:131990057(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs747796056
CDS Mutation c.2503G>A
AA Mutation p.Ala835Thr(p.A835T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 31
Mutation Consequence missense_variant
Transcription ID ENST00000389562
Start 132062519:132062519(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8152C>A
AA Mutation p.Leu2718Ile(p.L2718I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 32
Mutation Consequence missense_variant
Transcription ID ENST00000389562
Start 131961157:131961157(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.538A>T
AA Mutation p.Ile180Phe(p.I180F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 33
Mutation Consequence missense_variant
Transcription ID ENST00000389562
Start 131991412:131991412(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2635G>C
AA Mutation p.Glu879Gln(p.E879Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 34
Mutation Consequence missense_variant
Transcription ID ENST00000389562
Start 132067424:132067424(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs754941133
CDS Mutation c.8812G>A
AA Mutation p.Val2938Ile(p.V2938I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 35
Mutation Consequence synonymous_variant
Transcription ID ENST00000389562
Start 132025761:132025761(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4971G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 36
Mutation Consequence synonymous_variant
Transcription ID ENST00000389562
Start 132017556:132017556(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs540244111
CDS Mutation c.3945C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 37
Mutation Consequence synonymous_variant
Transcription ID ENST00000389562
Start 132037979:132037979(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6090T>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 38
Mutation Consequence synonymous_variant
Transcription ID ENST00000389562
Start 131961849:131961849(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1230T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 39
Mutation Consequence synonymous_variant
Transcription ID ENST00000389562
Start 132013517:132013517(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs750785674
CDS Mutation c.3639G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 40
Mutation Consequence synonymous_variant
Transcription ID ENST00000389562
Start 132066854:132066854(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs750978139
CDS Mutation c.8634G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 41
Mutation Consequence synonymous_variant
Transcription ID ENST00000389562
Start 131986678:131986678(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2094A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 42
Mutation Consequence synonymous_variant
Transcription ID ENST00000389562
Start 132006200:132006200(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs752148703
CDS Mutation c.3024C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 43
Mutation Consequence synonymous_variant
Transcription ID ENST00000389562
Start 132025731:132025731(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs79827647
CDS Mutation c.4941G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 44
Mutation Consequence synonymous_variant
Transcription ID ENST00000389562
Start 131982223:131982223(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1674C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 45
Mutation Consequence synonymous_variant
Transcription ID ENST00000389562
Start 132044829:132044829(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs147763834
CDS Mutation c.6660C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 46
Mutation Consequence synonymous_variant
Transcription ID ENST00000389562
Start 131961696:131961696(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs761080048
CDS Mutation c.1077G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 47
Mutation Consequence synonymous_variant
Transcription ID ENST00000389562
Start 132013047:132013047(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs542714351
CDS Mutation c.3480G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 48
Mutation Consequence synonymous_variant
Transcription ID ENST00000389562
Start 132045837:132045837(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs145640824
CDS Mutation c.7137C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 49
Mutation Consequence synonymous_variant
Transcription ID ENST00000389562
Start 132055181:132055181(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs566299572
CDS Mutation c.7857G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 50
Mutation Consequence synonymous_variant
Transcription ID ENST00000389562
Start 132025734:132025734(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs145159423
CDS Mutation c.4944C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 51
Mutation Consequence synonymous_variant
Transcription ID ENST00000389562
Start 131982391:131982391(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1842T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 52
Mutation Consequence synonymous_variant
Transcription ID ENST00000389562
Start 132069560:132069560(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8940C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 53
Mutation Consequence synonymous_variant
Transcription ID ENST00000389562
Start 131961144:131961144(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.525G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 54
Mutation Consequence synonymous_variant
Transcription ID ENST00000389562
Start 131986612:131986612(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs749287900
CDS Mutation c.2028C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 55
Mutation Consequence synonymous_variant
Transcription ID ENST00000389562
Start 132045551:132045551(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs755106829
CDS Mutation c.7017G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 56
Mutation Consequence synonymous_variant
Transcription ID ENST00000389562
Start 132066878:132066878(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs756853270
CDS Mutation c.8658G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 57
Mutation Consequence frameshift_variant
Transcription ID ENST00000389562
Start 132064707:132064707(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.8378delC
AA Mutation p.Pro2793ArgfsTer46(p.P2793Rfs*46)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 58
Mutation Consequence frameshift_variant
Transcription ID ENST00000389562
Start 132006849:132006849(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.3282delT
AA Mutation p.Phe1094LeufsTer4(p.F1094Lfs*4)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 59
Mutation Consequence frameshift_variant
Transcription ID ENST00000389562
Start 132025670:132025670(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.4884delC
AA Mutation p.Gln1630SerfsTer11(p.Q1630Sfs*11)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 60
Mutation Consequence frameshift_variant
Transcription ID ENST00000389562
Start 132043308:132043326(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.6212_6230delTCAAGAGTATTGAGTATCT
AA Mutation p.Leu2071ArgfsTer37(p.L2071Rfs*37)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 61
Mutation Consequence stop_gained
Transcription ID ENST00000389562
Start 132045829:132045829(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7129C>T
AA Mutation p.Arg2377Ter(p.R2377*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 62
Mutation Consequence stop_gained
Transcription ID ENST00000389562
Start 132053204:132053204(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7453C>T
AA Mutation p.Arg2485Ter(p.R2485*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 63
Mutation Consequence stop_gained
Transcription ID ENST00000389562
Start 132067397:132067397(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8785C>T
AA Mutation p.Gln2929Ter(p.Q2929*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript

Rectum Cancer: Gene >> EP400

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000389562
Start 132006165:132006165(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs771510250
CDS Mutation c.2989G>A
AA Mutation p.Asp997Asn(p.D997N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000389562
Start 132011528:132011528(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3335G>T
AA Mutation p.Arg1112Ile(p.R1112I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000389562
Start 132043710:132043710(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6432A>C
AA Mutation p.Glu2144Asp(p.E2144D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000389562
Start 131990657:131990657(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2572G>T
AA Mutation p.Val858Leu(p.V858L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000389562
Start 132055173:132055173(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs767424945
CDS Mutation c.7849C>T
AA Mutation p.Arg2617Cys(p.R2617C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000389562
Start 131960833:131960833(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs375222578
CDS Mutation c.214G>A
AA Mutation p.Val72Met(p.V72M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000389562
Start 132045516:132045516(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6982G>C
AA Mutation p.Asp2328His(p.D2328H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000389562
Start 132069523:132069523(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8903G>A
AA Mutation p.Gly2968Asp(p.G2968D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000389562
Start 131981557:131981557(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1504G>A
AA Mutation p.Ala502Thr(p.A502T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000389562
Start 132006205:132006205(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3029G>A
AA Mutation p.Arg1010Lys(p.R1010K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000389562
Start 131979706:131979706(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs147304028
CDS Mutation c.1348G>A
AA Mutation p.Ala450Thr(p.A450T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000389562
Start 132018216:132018216(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4117G>A
AA Mutation p.Asp1373Asn(p.D1373N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence synonymous_variant
Transcription ID ENST00000389562
Start 131960745:131960745(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs139666996
CDS Mutation c.126C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 14
Mutation Consequence synonymous_variant
Transcription ID ENST00000389562
Start 131986735:131986735(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2151A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 15
Mutation Consequence synonymous_variant
Transcription ID ENST00000389562
Start 132032111:132032111(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs200733426
CDS Mutation c.5913C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 16
Mutation Consequence frameshift_variant
Transcription ID ENST00000389562
Start 131961187:131961188(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.569_570delTT
AA Mutation p.Phe190CysfsTer73(p.F190Cfs*73)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 17
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000389562
Start 132044670:132044670(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6586-1G>A
Mutation Classification Splice_Site
Feature Type Transcript