Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> DSCAM

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000400454
Start 40338283:40338283(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1601C>T
AA Mutation p.Ser534Phe(p.S534F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000400454
Start 40189196:40189196(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs774341674
CDS Mutation c.2399C>T
AA Mutation p.Thr800Met(p.T800M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000400454
Start 40338254:40338254(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1630C>T
AA Mutation p.Leu544Phe(p.L544F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000400454
Start 40078834:40078834(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4564A>G
AA Mutation p.Thr1522Ala(p.T1522A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000400454
Start 40051966:40051966(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5177C>T
AA Mutation p.Pro1726Leu(p.P1726L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000400454
Start 40093828:40093828(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3743T>G
AA Mutation p.Ile1248Ser(p.I1248S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000400454
Start 40189163:40189163(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2432C>T
AA Mutation p.Ala811Val(p.A811V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000400454
Start 40338280:40338280(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1604T>A
AA Mutation p.Ile535Asn(p.I535N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000400454
Start 40187140:40187140(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2770A>C
AA Mutation p.Asn924His(p.N924H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000400454
Start 40312324:40312324(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1819T>G
AA Mutation p.Phe607Val(p.F607V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000400454
Start 40339255:40339255(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1371G>T
AA Mutation p.Gln457His(p.Q457H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000400454
Start 40078737:40078737(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4661C>T
AA Mutation p.Ala1554Val(p.A1554V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000400454
Start 40312129:40312129(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs756989790
CDS Mutation c.2014C>T
AA Mutation p.Arg672Trp(p.R672W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000400454
Start 40338176:40338176(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1708G>A
AA Mutation p.Glu570Lys(p.E570K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000400454
Start 40078864:40078864(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs767997820
CDS Mutation c.4534G>C
AA Mutation p.Glu1512Gln(p.E1512Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000400454
Start 40339310:40339310(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs776863787
CDS Mutation c.1316C>T
AA Mutation p.Thr439Met(p.T439M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000400454
Start 40075153:40075153(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4772A>C
AA Mutation p.Glu1591Ala(p.E1591A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000400454
Start 40369156:40369156(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs201979167
CDS Mutation c.598C>T
AA Mutation p.Arg200Trp(p.R200W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000400454
Start 40133880:40133880(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3536A>G
AA Mutation p.Gln1179Arg(p.Q1179R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000400454
Start 40085631:40085631(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4103A>G
AA Mutation p.Asp1368Gly(p.D1368G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000400454
Start 40187215:40187215(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs763287823
CDS Mutation c.2695C>T
AA Mutation p.Arg899Cys(p.R899C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000400454
Start 40347718:40347718(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs755881168
CDS Mutation c.1162C>T
AA Mutation p.Arg388Cys(p.R388C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000400454
Start 40338107:40338107(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1777G>A
AA Mutation p.Val593Met(p.V593M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 24
Mutation Consequence missense_variant
Transcription ID ENST00000400454
Start 40353656:40353656(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.743C>T
AA Mutation p.Ala248Val(p.A248V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 25
Mutation Consequence missense_variant
Transcription ID ENST00000400454
Start 40339158:40339158(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1468G>C
AA Mutation p.Ala490Pro(p.A490P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 26
Mutation Consequence missense_variant
Transcription ID ENST00000400454
Start 40339289:40339289(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs755700184
CDS Mutation c.1337C>T
AA Mutation p.Pro446Leu(p.P446L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 27
Mutation Consequence missense_variant
Transcription ID ENST00000400454
Start 40124298:40124298(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs772047754
CDS Mutation c.3593C>T
AA Mutation p.Ala1198Val(p.A1198V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 28
Mutation Consequence missense_variant
Transcription ID ENST00000400454
Start 40013171:40013171(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs746017443
CDS Mutation c.5902G>A
AA Mutation p.Val1968Met(p.V1968M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 29
Mutation Consequence missense_variant
Transcription ID ENST00000400454
Start 40013327:40013327(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5746C>T
AA Mutation p.Pro1916Ser(p.P1916S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 30
Mutation Consequence missense_variant
Transcription ID ENST00000400454
Start 40042526:40042526(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs775828668
CDS Mutation c.5531C>T
AA Mutation p.Ser1844Leu(p.S1844L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 31
Mutation Consequence missense_variant
Transcription ID ENST00000400454
Start 40083986:40083986(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4153C>A
AA Mutation p.Leu1385Ile(p.L1385I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 32
Mutation Consequence missense_variant
Transcription ID ENST00000400454
Start 40312168:40312168(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1975C>A
AA Mutation p.Leu659Ile(p.L659I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 33
Mutation Consequence missense_variant
Transcription ID ENST00000400454
Start 40189056:40189056(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2539A>T
AA Mutation p.Ile847Phe(p.I847F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 34
Mutation Consequence missense_variant
Transcription ID ENST00000400454
Start 40347717:40347717(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs369481071
CDS Mutation c.1163G>A
AA Mutation p.Arg388His(p.R388H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 35
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000400454
Start 40078975:40078975(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4423C>A
AA Mutation p.Pro1475Thr(p.P1475T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 36
Mutation Consequence missense_variant
Transcription ID ENST00000400454
Start 40312187:40312187(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1956C>A
AA Mutation p.Ser652Arg(p.S652R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 37
Mutation Consequence missense_variant
Transcription ID ENST00000400454
Start 40312347:40312347(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1796T>C
AA Mutation p.Ile599Thr(p.I599T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 38
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000400454
Start 40296172:40296172(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2065C>A
AA Mutation p.Pro689Thr(p.P689T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 39
Mutation Consequence missense_variant
Transcription ID ENST00000400454
Start 40013057:40013057(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs781716602
CDS Mutation c.6016G>A
AA Mutation p.Ala2006Thr(p.A2006T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 40
Mutation Consequence missense_variant
Transcription ID ENST00000400454
Start 40080275:40080275(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4297G>A
AA Mutation p.Glu1433Lys(p.E1433K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 41
Mutation Consequence missense_variant
Transcription ID ENST00000400454
Start 40052083:40052083(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5060C>T
AA Mutation p.Thr1687Met(p.T1687M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 42
Mutation Consequence missense_variant
Transcription ID ENST00000400454
Start 40353593:40353593(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.806G>A
AA Mutation p.Gly269Glu(p.G269E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 43
Mutation Consequence missense_variant
Transcription ID ENST00000400454
Start 40080190:40080190(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4382G>A
AA Mutation p.Arg1461His(p.R1461H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 44
Mutation Consequence missense_variant
Transcription ID ENST00000400454
Start 40187214:40187214(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2696G>A
AA Mutation p.Arg899His(p.R899H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 45
Mutation Consequence synonymous_variant
Transcription ID ENST00000400454
Start 40347869:40347869(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1011G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 46
Mutation Consequence synonymous_variant
Transcription ID ENST00000400454
Start 40055738:40055738(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs141507048
CDS Mutation c.5022G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 47
Mutation Consequence synonymous_variant
Transcription ID ENST00000400454
Start 40052094:40052094(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs530348291
CDS Mutation c.5049G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 48
Mutation Consequence synonymous_variant
Transcription ID ENST00000400454
Start 40708581:40708581(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs770298655
CDS Mutation c.234C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 49
Mutation Consequence synonymous_variant
Transcription ID ENST00000400454
Start 40353736:40353736(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs767731476
CDS Mutation c.663G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 50
Mutation Consequence synonymous_variant
Transcription ID ENST00000400454
Start 40312355:40312355(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs200014864
CDS Mutation c.1788G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 51
Mutation Consequence synonymous_variant
Transcription ID ENST00000400454
Start 40339159:40339159(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1467G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 52
Mutation Consequence synonymous_variant
Transcription ID ENST00000400454
Start 40087259:40087259(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3879G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 53
Mutation Consequence synonymous_variant
Transcription ID ENST00000400454
Start 40708506:40708506(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.309A>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 54
Mutation Consequence synonymous_variant
Transcription ID ENST00000400454
Start 40369118:40369118(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs530733676
CDS Mutation c.636C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 55
Mutation Consequence synonymous_variant
Transcription ID ENST00000400454
Start 40339159:40339159(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1467G>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 56
Mutation Consequence synonymous_variant
Transcription ID ENST00000400454
Start 40133897:40133897(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs201831874
CDS Mutation c.3519C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 57
Mutation Consequence synonymous_variant
Transcription ID ENST00000400454
Start 40078702:40078702(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4696C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 58
Mutation Consequence synonymous_variant
Transcription ID ENST00000400454
Start 40369121:40369121(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.633C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 59
Mutation Consequence synonymous_variant
Transcription ID ENST00000400454
Start 40013214:40013214(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs756653902
CDS Mutation c.5859C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 60
Mutation Consequence synonymous_variant
Transcription ID ENST00000400454
Start 40189231:40189231(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs41445950
CDS Mutation c.2364G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 61
Mutation Consequence synonymous_variant
Transcription ID ENST00000400454
Start 40187156:40187156(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs371171877
CDS Mutation c.2754C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 62
Mutation Consequence synonymous_variant
Transcription ID ENST00000400454
Start 40692844:40692844(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.474C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 63
Mutation Consequence synonymous_variant
Transcription ID ENST00000400454
Start 40189195:40189195(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs371668588
CDS Mutation c.2400G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 64
Mutation Consequence synonymous_variant
Transcription ID ENST00000400454
Start 40708626:40708626(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.189C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 65
Mutation Consequence frameshift_variant
Transcription ID ENST00000400454
Start 40142688:40142688(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.3276delC
AA Mutation p.Glu1093LysfsTer6(p.E1093Kfs*6)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 66
Mutation Consequence frameshift_variant
Transcription ID ENST00000400454
Start 40013083:40013083(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.5990delG
AA Mutation p.Gly1997AlafsTer3(p.G1997Afs*3)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 67
Mutation Consequence frameshift_variant
Transcription ID ENST00000400454
Start 40369106:40369106(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.648delT
AA Mutation p.Phe216LeufsTer44(p.F216Lfs*44)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 68
Mutation Consequence frameshift_variant
Transcription ID ENST00000400454
Start 40187253:40187253(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.2657delC
AA Mutation p.Pro886GlnfsTer57(p.P886Qfs*57)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 69
Mutation Consequence stop_gained
Transcription ID ENST00000400454
Start 40692869:40692869(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.449C>A
AA Mutation p.Ser150Ter(p.S150*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 70
Mutation Consequence stop_gained
Transcription ID ENST00000400454
Start 40276204:40276204(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2249C>A
AA Mutation p.Ser750Ter(p.S750*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 71
Mutation Consequence stop_gained
Transcription ID ENST00000400454
Start 40189119:40189119(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2476C>T
AA Mutation p.Arg826Ter(p.R826*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 72
Mutation Consequence stop_gained
Transcription ID ENST00000400454
Start 40144713:40144713(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3037C>T
AA Mutation p.Gln1013Ter(p.Q1013*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 73
Mutation Consequence stop_gained
Transcription ID ENST00000400454
Start 40312254:40312254(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1889G>A
AA Mutation p.Trp630Ter(p.W630*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 74
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000400454
Start 40044277:40044277(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5186-2A>G
Mutation Classification Splice_Site
Feature Type Transcript

Rectum Cancer: Gene >> DSCAM

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000400454
Start 40042472:40042472(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5585C>T
AA Mutation p.Thr1862Ile(p.T1862I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000400454
Start 40044236:40044236(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs191369731
CDS Mutation c.5225C>T
AA Mutation p.Ala1742Val(p.A1742V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000400454
Start 40369155:40369155(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.599G>A
AA Mutation p.Arg200Gln(p.R200Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000400454
Start 40013348:40013348(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5725T>G
AA Mutation p.Phe1909Val(p.F1909V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000400454
Start 40085695:40085695(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs765825981
CDS Mutation c.4039C>T
AA Mutation p.Arg1347Cys(p.R1347C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000400454
Start 40338308:40338308(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1576C>T
AA Mutation p.Arg526Cys(p.R526C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence synonymous_variant
Transcription ID ENST00000400454
Start 40353541:40353541(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs375148161
CDS Mutation c.858G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 8
Mutation Consequence synonymous_variant
Transcription ID ENST00000400454
Start 40187940:40187940(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs367614504
CDS Mutation c.2601T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 9
Mutation Consequence synonymous_variant
Transcription ID ENST00000400454
Start 40312355:40312355(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs200014864
CDS Mutation c.1788G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 10
Mutation Consequence synonymous_variant
Transcription ID ENST00000400454
Start 40075119:40075119(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4806C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 11
Mutation Consequence synonymous_variant
Transcription ID ENST00000400454
Start 40078709:40078709(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs201376842
CDS Mutation c.4689C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 12
Mutation Consequence synonymous_variant
Transcription ID ENST00000400454
Start 40078730:40078730(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs756384781
CDS Mutation c.4668C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 13
Mutation Consequence frameshift_variant
Transcription ID ENST00000400454
Start 40052061:40052074(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.5069_5082delACTTTGGAGAGGCA
AA Mutation p.Asp1690GlyfsTer2(p.D1690Gfs*2)
Mutation Classification Frame_Shift_Del
Feature Type Transcript