Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> MUC4

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000463781
Start 195753210:195753210(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.15349T>A
AA Mutation p.Cys5117Ser(p.C5117S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000463781
Start 195784093:195784093(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7487G>A
AA Mutation p.Arg2496His(p.R2496H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000463781
Start 195790622:195790622(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.958G>T
AA Mutation p.Ala320Ser(p.A320S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000463781
Start 195784247:195784247(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7333C>G
AA Mutation p.His2445Asp(p.H2445D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000463781
Start 195779339:195779339(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.12241C>T
AA Mutation p.Leu4081Phe(p.L4081F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000463781
Start 195784118:195784118(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7462T>A
AA Mutation p.Ser2488Thr(p.S2488T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000463781
Start 195753140:195753140(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.15419G>T
AA Mutation p.Gly5140Val(p.G5140V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000463781
Start 195782035:195782035(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.9545C>T
AA Mutation p.Thr3182Ile(p.T3182I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000463781
Start 195780632:195780632(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.10948C>T
AA Mutation p.Leu3650Phe(p.L3650F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000463781
Start 195788876:195788876(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2704G>A
AA Mutation p.Ala902Thr(p.A902T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000463781
Start 195782440:195782440(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.9140C>T
AA Mutation p.Ser3047Phe(p.S3047F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000463781
Start 195784115:195784115(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7465G>C
AA Mutation p.Val2489Leu(p.V2489L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000463781
Start 195789197:195789197(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2383T>C
AA Mutation p.Ser795Pro(p.S795P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000463781
Start 195790769:195790769(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.811G>T
AA Mutation p.Gly271Cys(p.G271C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000463781
Start 195790972:195790972(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs772115464
CDS Mutation c.608C>T
AA Mutation p.Thr203Met(p.T203M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000463781
Start 195782908:195782908(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8672C>A
AA Mutation p.Thr2891Lys(p.T2891K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000463781
Start 195786347:195786347(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs774659748
CDS Mutation c.5233C>G
AA Mutation p.Leu1745Val(p.L1745V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000463781
Start 195786595:195786595(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs79854771
CDS Mutation c.4985C>T
AA Mutation p.Ala1662Val(p.A1662V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000463781
Start 195748986:195748986(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.15950G>A
AA Mutation p.Gly5317Asp(p.G5317D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000463781
Start 195788602:195788602(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2978T>G
AA Mutation p.Leu993Arg(p.L993R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000463781
Start 195762195:195762195(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.14404G>A
AA Mutation p.Ala4802Thr(p.A4802T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000463781
Start 195769083:195769083(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs761654769
CDS Mutation c.13468G>A
AA Mutation p.Gly4490Ser(p.G4490S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000463781
Start 195789367:195789367(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2213T>G
AA Mutation p.Leu738Arg(p.L738R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 24
Mutation Consequence missense_variant
Transcription ID ENST00000463781
Start 195782542:195782542(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9038A>G
AA Mutation p.Asp3013Gly(p.D3013G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 25
Mutation Consequence missense_variant
Transcription ID ENST00000463781
Start 195771794:195771794(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.13100T>C
AA Mutation p.Ile4367Thr(p.I4367T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 26
Mutation Consequence missense_variant
Transcription ID ENST00000463781
Start 195783140:195783140(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs28375716
CDS Mutation c.8440G>A
AA Mutation p.Ala2814Thr(p.A2814T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 27
Mutation Consequence missense_variant
Transcription ID ENST00000463781
Start 195771762:195771762(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.13132T>C
AA Mutation p.Tyr4378His(p.Y4378H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 28
Mutation Consequence missense_variant
Transcription ID ENST00000463781
Start 195790932:195790932(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.648C>G
AA Mutation p.His216Gln(p.H216Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 29
Mutation Consequence missense_variant
Transcription ID ENST00000463781
Start 195785998:195785998(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5582A>C
AA Mutation p.Asp1861Ala(p.D1861A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 30
Mutation Consequence missense_variant
Transcription ID ENST00000463781
Start 195780439:195780439(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs754488846
CDS Mutation c.11141C>A
AA Mutation p.Pro3714His(p.P3714H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 31
Mutation Consequence missense_variant
Transcription ID ENST00000463781
Start 195783284:195783284(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8296G>A
AA Mutation p.Ala2766Thr(p.A2766T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 32
Mutation Consequence missense_variant
Transcription ID ENST00000463781
Start 195786413:195786413(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5167A>G
AA Mutation p.Thr1723Ala(p.T1723A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 33
Mutation Consequence missense_variant
Transcription ID ENST00000463781
Start 195765390:195765390(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs777529013
CDS Mutation c.13678G>A
AA Mutation p.Glu4560Lys(p.E4560K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 34
Mutation Consequence missense_variant
Transcription ID ENST00000463781
Start 195790766:195790766(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.814T>A
AA Mutation p.Ser272Thr(p.S272T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 35
Mutation Consequence synonymous_variant
Transcription ID ENST00000463781
Start 195760906:195760906(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs571372400
CDS Mutation c.14826C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 36
Mutation Consequence synonymous_variant
Transcription ID ENST00000463781
Start 195760894:195760894(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs764418564
CDS Mutation c.14838C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 37
Mutation Consequence synonymous_variant
Transcription ID ENST00000463781
Start 195786096:195786096(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5484C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 38
Mutation Consequence synonymous_variant
Transcription ID ENST00000463781
Start 195785619:195785619(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5961C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 39
Mutation Consequence synonymous_variant
Transcription ID ENST00000463781
Start 195785055:195785055(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs747131764
CDS Mutation c.6525C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 40
Mutation Consequence synonymous_variant
Transcription ID ENST00000463781
Start 195749030:195749030(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs371206636
CDS Mutation c.15906C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 41
Mutation Consequence synonymous_variant
Transcription ID ENST00000463781
Start 195763469:195763469(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.14217G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 42
Mutation Consequence synonymous_variant
Transcription ID ENST00000463781
Start 195774217:195774217(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs766547794
CDS Mutation c.13032G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 43
Mutation Consequence synonymous_variant
Transcription ID ENST00000463781
Start 195788430:195788430(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3150C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 44
Mutation Consequence synonymous_variant
Transcription ID ENST00000463781
Start 195784734:195784734(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6846C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 45
Mutation Consequence synonymous_variant
Transcription ID ENST00000463781
Start 195789390:195789390(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs201613152
CDS Mutation c.2190G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 46
Mutation Consequence synonymous_variant
Transcription ID ENST00000463781
Start 195784800:195784800(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs750294399
CDS Mutation c.6780C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 47
Mutation Consequence synonymous_variant
Transcription ID ENST00000463781
Start 195751251:195751251(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.15603C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 48
Mutation Consequence synonymous_variant
Transcription ID ENST00000463781
Start 195782778:195782778(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8802T>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 49
Mutation Consequence synonymous_variant
Transcription ID ENST00000463781
Start 195786333:195786333(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5247C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 50
Mutation Consequence synonymous_variant
Transcription ID ENST00000463781
Start 195785436:195785436(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6144T>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 51
Mutation Consequence synonymous_variant
Transcription ID ENST00000463781
Start 195747311:195747311(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.16104G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 52
Mutation Consequence synonymous_variant
Transcription ID ENST00000463781
Start 195781029:195781029(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs542653240
CDS Mutation c.10551C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 53
Mutation Consequence synonymous_variant
Transcription ID ENST00000463781
Start 195785538:195785538(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6042C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 54
Mutation Consequence frameshift_variant
Transcription ID ENST00000463781
Start 195779627:195779627(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.11953delC
AA Mutation p.Leu3985PhefsTer274(p.L3985Ffs*274)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 55
Mutation Consequence frameshift_variant
Transcription ID ENST00000463781
Start 195761027:195761027(version: GRCh38)
Mutation Type DEL
dbSNP_RS rs766716021
CDS Mutation c.14705delA
AA Mutation p.Asn4902ThrfsTer8(p.N4902Tfs*8)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 56
Mutation Consequence splice_donor_variant
Transcription ID ENST00000463781
Start 195760883:195760883(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.14848+1G>T
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 57
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000463781
Start 195749065:195749065(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs778550865
CDS Mutation c.15872-1G>A
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 58
Mutation Consequence inframe_insertion
Transcription ID ENST00000463781
Start 195781028:195781029(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.10551_10552insACCACGACTCTTCCTGTCACCGACACTTCCTCAGTATCCACAGGTCACGCCACCCCTCTTCCTGTCACCAGCTTTTCCTCAGTATCCACAGGTGACACCACCCCTCTTCCTGTCACCGACGCTTCCTCGGCATCCACCGGTCAC
AA Mutation p.His3517_Ala3518insThrThrThrLeuProValThrAspThrSerSerValSerThrGlyHisAlaThrProLeuProValThrSerPheSerSerValSerThrGlyAspThrThrProLeuProValThrAspAlaSerSerAlaSerThrGlyHis(p.H3517_A3518insTTTLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGH)
Mutation Classification In_Frame_Ins
Feature Type Transcript
Mutation ID 59
Mutation Consequence inframe_insertion
Transcription ID ENST00000463781
Start 195784343:195784344(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.7236_7237insGACACCACCCCTCTTCCTGTCACCGACACTTCCTCAGCATCCCCAGGT
AA Mutation p.Gly2412_His2413insAspThrThrProLeuProValThrAspThrSerSerAlaSerProGly(p.G2412_H2413insDTTPLPVTDTSSASPG)
Mutation Classification In_Frame_Ins
Feature Type Transcript
Mutation ID 60
Mutation Consequence inframe_insertion
Transcription ID ENST00000463781
Start 195781023:195781024(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.10556_10557insGACTCTTCCTGTCACCGACACTTCCTCAGTATCCACAGGTCACGCCACCCCTCTTCCTGTCACCAGCTTTTCCTCAGTATCCACAGGTGACACCACCCCTCTTCCTGTCACCGACGCTTCCTCGGCATCCACCGGTCACGCCAC
AA Mutation p.Thr3519_Pro3520insThrLeuProValThrAspThrSerSerValSerThrGlyHisAlaThrProLeuProValThrSerPheSerSerValSerThrGlyAspThrThrProLeuProValThrAspAlaSerSerAlaSerThrGlyHisAlaThr(p.T3519_P3520insTLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHAT)
Mutation Classification In_Frame_Ins
Feature Type Transcript
Mutation ID 61
Mutation Consequence inframe_insertion
Transcription ID ENST00000463781
Start 195781262:195781263(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.10317_10318insTCTCTTCCTGTCACCAGCACTTCCTCAGCATCCACAGGTCACGCCACC
AA Mutation p.Thr3439_Pro3440insSerLeuProValThrSerThrSerSerAlaSerThrGlyHisAlaThr(p.T3439_P3440insSLPVTSTSSASTGHAT)
Mutation Classification In_Frame_Ins
Feature Type Transcript
Mutation ID 62
Mutation Consequence inframe_insertion
Transcription ID ENST00000463781
Start 195781031:195781032(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.10548_10549insGACACCACGACTCTTCCTGTCACCGACACTTCCTCAGTATCCACAGGTCACGCCACCCCTCTTCCTGTCACCAGCTTTTCCTCAGTATCCACAGGTGACACCACCCCTCTTCCTGTCACCGACGCTTCCTCGGCATCCACCGGT
AA Mutation p.Gly3516_His3517insAspThrThrThrLeuProValThrAspThrSerSerValSerThrGlyHisAlaThrProLeuProValThrSerPheSerSerValSerThrGlyAspThrThrProLeuProValThrAspAlaSerSerAlaSerThrGly(p.G3516_H3517insDTTTLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTG)
Mutation Classification In_Frame_Ins
Feature Type Transcript
Mutation ID 63
Mutation Consequence inframe_insertion
Transcription ID ENST00000463781
Start 195784343:195784344(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.7236_7237insGACACCACCCCTCTTCCTGTCACCGACGCTTCCTCAGCATCTACAGGTGACACCACCCCTCTTCCTGTCACCGACACTTCCTCAGCATCCACAGGT
AA Mutation p.Gly2412_His2413insAspThrThrProLeuProValThrAspAlaSerSerAlaSerThrGlyAspThrThrProLeuProValThrAspThrSerSerAlaSerThrGly(p.G2412_H2413insDTTPLPVTDASSASTGDTTPLPVTDTSSASTG)
Mutation Classification In_Frame_Ins
Feature Type Transcript
Mutation ID 64
Mutation Consequence inframe_insertion
Transcription ID ENST00000463781
Start 195784343:195784344(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.7189_7236dupGACACCACCCCTCTTCCTGTCACCGACACTTCCTCAGCATCCACAGGT
AA Mutation p.Asp2397_Gly2412dup(p.D2397_G2412dup)
Mutation Classification In_Frame_Ins
Feature Type Transcript

Rectum Cancer: Gene >> MUC4

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000463781
Start 195782927:195782927(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8653G>C
AA Mutation p.Asp2885His(p.D2885H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000463781
Start 195783271:195783271(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8309C>G
AA Mutation p.Pro2770Arg(p.P2770R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000463781
Start 195786362:195786362(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5218G>A
AA Mutation p.Gly1740Ser(p.G1740S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000463781
Start 195789625:195789625(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs368190725
CDS Mutation c.1955C>T
AA Mutation p.Thr652Met(p.T652M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000463781
Start 195765290:195765290(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.13778G>A
AA Mutation p.Arg4593Gln(p.R4593Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000463781
Start 195747296:195747296(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.16119C>A
AA Mutation p.Phe5373Leu(p.F5373L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000463781
Start 195785626:195785626(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5954T>C
AA Mutation p.Leu1985Pro(p.L1985P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence synonymous_variant
Transcription ID ENST00000463781
Start 195759209:195759209(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.14901G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 9
Mutation Consequence synonymous_variant
Transcription ID ENST00000463781
Start 195766736:195766736(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs754887474
CDS Mutation c.13545C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 10
Mutation Consequence stop_gained
Transcription ID ENST00000463781
Start 195789950:195789950(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1630G>T
AA Mutation p.Glu544Ter(p.E544*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence frameshift_variant
Transcription ID ENST00000463781
Start 195785772:195785773(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.5807_5808insACCTC
AA Mutation p.Leu1937ProfsTer1069(p.L1937Pfs*1069)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 12
Mutation Consequence inframe_insertion
Transcription ID ENST00000463781
Start 195781031:195781032(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.10548_10549insGACACCACGACTCTTCCTGTCACCGACACTTCCTCAGTATCCACAGGTCACGCCACCCCTCTTCCTGTCACCAGCTTTTCCTCAGTATCCACAGGTGACACCACCCCTCTTCCTGTCACCGACGCTTCCTCGGCATCCACCGGT
AA Mutation p.Gly3516_His3517insAspThrThrThrLeuProValThrAspThrSerSerValSerThrGlyHisAlaThrProLeuProValThrSerPheSerSerValSerThrGlyAspThrThrProLeuProValThrAspAlaSerSerAlaSerThrGly(p.G3516_H3517insDTTTLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTG)
Mutation Classification In_Frame_Ins
Feature Type Transcript
Mutation ID 13
Mutation Consequence inframe_insertion
Transcription ID ENST00000463781
Start 195781035:195781036(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.10544_10545insAGGTGACACCACGACTCTTCCTGTCACCGACACTTCCTCAGTATCCACAGGTCACGCCACCCCTCTTCCTGTCACCAGCTTTTCCTCAGTATCCACAGGTGACACCACCCCTCTTCCTGTCACCGACGCTTCCTCGGCATCCAC
AA Mutation p.Gly3516_His3517insAspThrThrThrLeuProValThrAspThrSerSerValSerThrGlyHisAlaThrProLeuProValThrSerPheSerSerValSerThrGlyAspThrThrProLeuProValThrAspAlaSerSerAlaSerThrGly(p.G3516_H3517insDTTTLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTG)
Mutation Classification In_Frame_Ins
Feature Type Transcript
Mutation ID 14
Mutation Consequence inframe_insertion
Transcription ID ENST00000463781
Start 195784343:195784344(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.7236_7237insGACACCACCCCTCTTCCTGTCACCGACACTTCCTCAGCATCCACGGGT
AA Mutation p.Asp2397_Gly2412dup(p.D2397_G2412dup)
Mutation Classification In_Frame_Ins
Feature Type Transcript