Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> SCN9A

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000303354
Start 166277225:166277225(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2632T>C
AA Mutation p.Phe878Leu(p.F878L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000303354
Start 166272770:166272770(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2980A>G
AA Mutation p.Arg994Gly(p.R994G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000303354
Start 166228876:166228876(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs777811075
CDS Mutation c.4021A>C
AA Mutation p.Asn1341His(p.N1341H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000303354
Start 166233395:166233395(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs368396027
CDS Mutation c.3869G>A
AA Mutation p.Arg1290Gln(p.R1290Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000303354
Start 166304286:166304286(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.640C>G
AA Mutation p.Arg214Gly(p.R214G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000303354
Start 166277162:166277162(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2695A>T
AA Mutation p.Ile899Phe(p.I899F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000303354
Start 166278268:166278268(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2389G>A
AA Mutation p.Ala797Thr(p.A797T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000303354
Start 166280389:166280389(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2311G>A
AA Mutation p.Glu771Lys(p.E771K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000303354
Start 166238158:166238158(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3737T>A
AA Mutation p.Ile1246Lys(p.I1246K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000303354
Start 166242572:166242572(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3557A>G
AA Mutation p.Tyr1186Cys(p.Y1186C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000303354
Start 166286527:166286527(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1411A>G
AA Mutation p.Lys471Glu(p.K471E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000303354
Start 166199123:166199123(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5516T>G
AA Mutation p.Leu1839Arg(p.L1839R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000303354
Start 166251792:166251792(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs199859971
CDS Mutation c.3445G>A
AA Mutation p.Asp1149Asn(p.D1149N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000303354
Start 166199798:166199798(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4841T>A
AA Mutation p.Leu1614His(p.L1614H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000303354
Start 166284784:166284784(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs201247595
CDS Mutation c.1643G>A
AA Mutation p.Arg548Gln(p.R548Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000303354
Start 166227704:166227704(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs200763228
CDS Mutation c.4226C>T
AA Mutation p.Thr1409Met(p.T1409M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000303354
Start 166226614:166226614(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4351T>G
AA Mutation p.Leu1451Val(p.L1451V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000303354
Start 166199024:166199024(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5615C>A
AA Mutation p.Pro1872His(p.P1872H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000303354
Start 166199311:166199311(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5328G>T
AA Mutation p.Glu1776Asp(p.E1776D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000303354
Start 166293284:166293284(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1054T>A
AA Mutation p.Leu352Ile(p.L352I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000303354
Start 166198983:166198983(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs560168893
CDS Mutation c.5656C>T
AA Mutation p.Arg1886Trp(p.R1886W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000303354
Start 166294623:166294623(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.941T>G
AA Mutation p.Leu314Arg(p.L314R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000303354
Start 166228840:166228840(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4057A>G
AA Mutation p.Thr1353Ala(p.T1353A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 24
Mutation Consequence missense_variant
Transcription ID ENST00000303354
Start 166199458:166199458(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5181A>C
AA Mutation p.Glu1727Asp(p.E1727D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 25
Mutation Consequence missense_variant
Transcription ID ENST00000303354
Start 166311750:166311750(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7A>T
AA Mutation p.Met3Leu(p.M3L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 26
Mutation Consequence missense_variant
Transcription ID ENST00000303354
Start 166305894:166305894(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.494T>C
AA Mutation p.Phe165Ser(p.F165S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 27
Mutation Consequence missense_variant
Transcription ID ENST00000303354
Start 166251797:166251797(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3440A>T
AA Mutation p.Asn1147Ile(p.N1147I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 28
Mutation Consequence missense_variant
Transcription ID ENST00000303354
Start 166305805:166305805(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs775461240
CDS Mutation c.583G>A
AA Mutation p.Val195Ile(p.V195I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 29
Mutation Consequence missense_variant
Transcription ID ENST00000303354
Start 166226696:166226696(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4269G>T
AA Mutation p.Lys1423Asn(p.K1423N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 30
Mutation Consequence missense_variant
Transcription ID ENST00000303354
Start 166280536:166280536(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2164T>G
AA Mutation p.Leu722Val(p.L722V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 31
Mutation Consequence missense_variant
Transcription ID ENST00000303354
Start 166198820:166198820(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5819A>G
AA Mutation p.Asn1940Ser(p.N1940S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 32
Mutation Consequence missense_variant
Transcription ID ENST00000303354
Start 166199199:166199199(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5440C>A
AA Mutation p.Leu1814Ile(p.L1814I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 33
Mutation Consequence missense_variant
Transcription ID ENST00000303354
Start 166272556:166272556(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3194G>A
AA Mutation p.Ser1065Asn(p.S1065N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 34
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000303354
Start 166204361:166204361(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4502G>C
AA Mutation p.Gly1501Ala(p.G1501A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 35
Mutation Consequence missense_variant
Transcription ID ENST00000303354
Start 166199304:166199304(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5335T>G
AA Mutation p.Phe1779Val(p.F1779V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 36
Mutation Consequence missense_variant
Transcription ID ENST00000303354
Start 166199517:166199517(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5122C>A
AA Mutation p.Leu1708Ile(p.L1708I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 37
Mutation Consequence missense_variant
Transcription ID ENST00000303354
Start 166228834:166228834(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4063G>A
AA Mutation p.Asp1355Asn(p.D1355N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 38
Mutation Consequence missense_variant
Transcription ID ENST00000303354
Start 166272792:166272792(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2958C>A
AA Mutation p.Asn986Lys(p.N986K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 39
Mutation Consequence missense_variant
Transcription ID ENST00000303354
Start 166272626:166272626(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3124A>G
AA Mutation p.Thr1042Ala(p.T1042A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 40
Mutation Consequence missense_variant
Transcription ID ENST00000303354
Start 166288462:166288462(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1289T>C
AA Mutation p.Leu430Pro(p.L430P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 41
Mutation Consequence missense_variant
Transcription ID ENST00000303354
Start 166294611:166294611(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.953G>T
AA Mutation p.Ser318Ile(p.S318I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 42
Mutation Consequence synonymous_variant
Transcription ID ENST00000303354
Start 166204067:166204067(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs201129663
CDS Mutation c.4662T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 43
Mutation Consequence synonymous_variant
Transcription ID ENST00000303354
Start 166199155:166199155(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5484G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 44
Mutation Consequence synonymous_variant
Transcription ID ENST00000303354
Start 166286396:166286396(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1542C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 45
Mutation Consequence synonymous_variant
Transcription ID ENST00000303354
Start 166288497:166288497(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1254G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 46
Mutation Consequence synonymous_variant
Transcription ID ENST00000303354
Start 166277087:166277087(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2770C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 47
Mutation Consequence synonymous_variant
Transcription ID ENST00000303354
Start 166303280:166303280(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.711T>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 48
Mutation Consequence synonymous_variant
Transcription ID ENST00000303354
Start 166199665:166199665(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs757858235
CDS Mutation c.4974C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 49
Mutation Consequence synonymous_variant
Transcription ID ENST00000303354
Start 166198690:166198690(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5949C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 50
Mutation Consequence synonymous_variant
Transcription ID ENST00000303354
Start 166281752:166281752(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2031G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 51
Mutation Consequence synonymous_variant
Transcription ID ENST00000303354
Start 166199529:166199529(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5110C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 52
Mutation Consequence synonymous_variant
Transcription ID ENST00000303354
Start 166272852:166272852(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2898A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 53
Mutation Consequence synonymous_variant
Transcription ID ENST00000303354
Start 166284636:166284636(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1791A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 54
Mutation Consequence synonymous_variant
Transcription ID ENST00000303354
Start 166306557:166306557(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.420C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 55
Mutation Consequence synonymous_variant
Transcription ID ENST00000303354
Start 166278236:166278236(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2421C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 56
Mutation Consequence synonymous_variant
Transcription ID ENST00000303354
Start 166311697:166311697(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.60T>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 57
Mutation Consequence frameshift_variant
Transcription ID ENST00000303354
Start 166311737:166311737(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.20delC
AA Mutation p.Pro7GlnfsTer83(p.P7Qfs*83)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 58
Mutation Consequence stop_gained
Transcription ID ENST00000303354
Start 166311662:166311662(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.95C>G
AA Mutation p.Ser32Ter(p.S32*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 59
Mutation Consequence stop_gained
Transcription ID ENST00000303354
Start 166284638:166284638(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1789C>T
AA Mutation p.Arg597Ter(p.R597*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 60
Mutation Consequence stop_gained
Transcription ID ENST00000303354
Start 166228756:166228756(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs748159444
CDS Mutation c.4141C>T
AA Mutation p.Arg1381Ter(p.R1381*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 61
Mutation Consequence stop_gained
Transcription ID ENST00000303354
Start 166278154:166278154(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2503C>T
AA Mutation p.Arg835Ter(p.R835*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 62
Mutation Consequence stop_gained
Transcription ID ENST00000303354
Start 166278169:166278169(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2488G>T
AA Mutation p.Gly830Ter(p.G830*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 63
Mutation Consequence stop_gained
Transcription ID ENST00000303354
Start 166288532:166288532(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1219G>T
AA Mutation p.Glu407Ter(p.E407*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 64
Mutation Consequence frameshift_variant
Transcription ID ENST00000303354
Start 166198802:166198803(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.5836dupA
AA Mutation p.Thr1946AsnfsTer14(p.T1946Nfs*14)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 65
Mutation Consequence frameshift_variant
Transcription ID ENST00000303354
Start 166199481:166199482(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.5157dupA
AA Mutation p.Val1720SerfsTer8(p.V1720Sfs*8)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 66
Mutation Consequence frameshift_variant
Transcription ID ENST00000303354
Start 166284652:166284653(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.1774dupC
AA Mutation p.His592ProfsTer10(p.H592Pfs*10)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript

Rectum Cancer: Gene >> SCN9A

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000303354
Start 166199005:166199005(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5634A>C
AA Mutation p.Glu1878Asp(p.E1878D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000303354
Start 166227723:166227723(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4207G>T
AA Mutation p.Ala1403Ser(p.A1403S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000303354
Start 166306547:166306547(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.430A>G
AA Mutation p.Thr144Ala(p.T144A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000303354
Start 166286456:166286456(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs777699798
CDS Mutation c.1482G>T
AA Mutation p.Lys494Asn(p.K494N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000303354
Start 166305805:166305805(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs775461240
CDS Mutation c.583G>A
AA Mutation p.Val195Ile(p.V195I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000303354
Start 166199748:166199748(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs202155356
CDS Mutation c.4891C>T
AA Mutation p.Arg1631Cys(p.R1631C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000303354
Start 166199605:166199605(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5034G>C
AA Mutation p.Met1678Ile(p.M1678I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000303354
Start 166226687:166226687(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4278A>C
AA Mutation p.Lys1426Asn(p.K1426N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000303354
Start 166198707:166198707(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5932G>T
AA Mutation p.Asp1978Tyr(p.D1978Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000303354
Start 166203990:166203990(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4739T>G
AA Mutation p.Ile1580Ser(p.I1580S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000303354
Start 166277093:166277093(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs774848595
CDS Mutation c.2764C>T
AA Mutation p.Arg922Cys(p.R922C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000303354
Start 166286508:166286508(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1430G>T
AA Mutation p.Arg477Ile(p.R477I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000303354
Start 166198982:166198982(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs774488202
CDS Mutation c.5657G>A
AA Mutation p.Arg1886Gln(p.R1886Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000303354
Start 166199115:166199115(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5524T>G
AA Mutation p.Leu1842Val(p.L1842V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000303354
Start 166272719:166272719(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3031C>A
AA Mutation p.Leu1011Ile(p.L1011I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000303354
Start 166286538:166286538(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1400A>C
AA Mutation p.Lys467Thr(p.K467T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence synonymous_variant
Transcription ID ENST00000303354
Start 166303106:166303106(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.885T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 18
Mutation Consequence synonymous_variant
Transcription ID ENST00000303354
Start 166311655:166311655(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.102A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 19
Mutation Consequence synonymous_variant
Transcription ID ENST00000303354
Start 166293348:166293348(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.990T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 20
Mutation Consequence frameshift_variant
Transcription ID ENST00000303354
Start 166198849:166198849(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.5790delA
AA Mutation p.Asp1931IlefsTer31(p.D1931Ifs*31)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 21
Mutation Consequence stop_gained
Transcription ID ENST00000303354
Start 166284692:166284692(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1735G>T
AA Mutation p.Gly579Ter(p.G579*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence splice_donor_variant
Transcription ID ENST00000303354
Start 166251763:166251763(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3472+2T>C
Mutation Classification Splice_Site
Feature Type Transcript