Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> HECW1

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000395891
Start 43445238:43445238(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2066G>T
AA Mutation p.Ser689Ile(p.S689I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000395891
Start 43444410:43444410(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1238C>A
AA Mutation p.Ser413Tyr(p.S413Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000395891
Start 43508077:43508077(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3812C>T
AA Mutation p.Ser1271Leu(p.S1271L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000395891
Start 43500761:43500761(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3500C>T
AA Mutation p.Ala1167Val(p.A1167V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000395891
Start 43456354:43456354(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2558G>T
AA Mutation p.Arg853Leu(p.R853L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000395891
Start 43312010:43312010(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.275A>G
AA Mutation p.His92Arg(p.H92R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000395891
Start 43479613:43479613(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3103T>G
AA Mutation p.Phe1035Val(p.F1035V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000395891
Start 43550577:43550577(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4381C>T
AA Mutation p.Arg1461Cys(p.R1461C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000395891
Start 43444523:43444523(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1351C>T
AA Mutation p.Pro451Ser(p.P451S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000395891
Start 43311796:43311796(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.61G>A
AA Mutation p.Ala21Thr(p.A21T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000395891
Start 43444889:43444889(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs754513729
CDS Mutation c.1717G>A
AA Mutation p.Ala573Thr(p.A573T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000395891
Start 43468990:43468990(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs774693537
CDS Mutation c.2984G>A
AA Mutation p.Arg995His(p.R995H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000395891
Start 43500718:43500718(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs748678471
CDS Mutation c.3457C>T
AA Mutation p.Arg1153Trp(p.R1153W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000395891
Start 43554744:43554744(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs754041766
CDS Mutation c.4663C>T
AA Mutation p.Arg1555Trp(p.R1555W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000395891
Start 43469016:43469016(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs113884072
CDS Mutation c.3010C>T
AA Mutation p.Arg1004Trp(p.R1004W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000395891
Start 43407727:43407727(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.797C>T
AA Mutation p.Ala266Val(p.A266V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000395891
Start 43469002:43469002(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs372121389
CDS Mutation c.2996G>A
AA Mutation p.Arg999His(p.R999H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000395891
Start 43552313:43552313(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs368182508
CDS Mutation c.4487G>A
AA Mutation p.Arg1496Gln(p.R1496Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000395891
Start 43552330:43552330(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4504C>T
AA Mutation p.Arg1502Trp(p.R1502W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000395891
Start 43444356:43444356(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1184A>G
AA Mutation p.Gln395Arg(p.Q395R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000395891
Start 43445493:43445493(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2321C>T
AA Mutation p.Ala774Val(p.A774V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000395891
Start 43561888:43561888(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4783A>G
AA Mutation p.Thr1595Ala(p.T1595A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000395891
Start 43550548:43550548(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4352G>A
AA Mutation p.Gly1451Asp(p.G1451D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 24
Mutation Consequence missense_variant
Transcription ID ENST00000395891
Start 43508080:43508080(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs367661051
CDS Mutation c.3815G>A
AA Mutation p.Arg1272Gln(p.R1272Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 25
Mutation Consequence missense_variant
Transcription ID ENST00000395891
Start 43407591:43407591(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.661A>G
AA Mutation p.Met221Val(p.M221V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 26
Mutation Consequence missense_variant
Transcription ID ENST00000395891
Start 43311929:43311929(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs750970386
CDS Mutation c.194G>A
AA Mutation p.Arg65His(p.R65H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 27
Mutation Consequence missense_variant
Transcription ID ENST00000395891
Start 43554708:43554708(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs370997480
CDS Mutation c.4627G>A
AA Mutation p.Glu1543Lys(p.E1543K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 28
Mutation Consequence missense_variant
Transcription ID ENST00000395891
Start 43445117:43445117(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs769155947
CDS Mutation c.1945G>A
AA Mutation p.Asp649Asn(p.D649N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 29
Mutation Consequence missense_variant
Transcription ID ENST00000395891
Start 43554643:43554643(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs756422420
CDS Mutation c.4562G>A
AA Mutation p.Arg1521His(p.R1521H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 30
Mutation Consequence missense_variant
Transcription ID ENST00000395891
Start 43407704:43407704(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.774C>A
AA Mutation p.Asn258Lys(p.N258K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 31
Mutation Consequence missense_variant
Transcription ID ENST00000395891
Start 43407594:43407594(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.664T>C
AA Mutation p.Phe222Leu(p.F222L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 32
Mutation Consequence missense_variant
Transcription ID ENST00000395891
Start 43550569:43550569(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4373C>T
AA Mutation p.Ala1458Val(p.A1458V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 33
Mutation Consequence missense_variant
Transcription ID ENST00000395891
Start 43479725:43479725(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3215G>A
AA Mutation p.Arg1072Gln(p.R1072Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 34
Mutation Consequence missense_variant
Transcription ID ENST00000395891
Start 43445508:43445508(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2336A>G
AA Mutation p.His779Arg(p.H779R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 35
Mutation Consequence missense_variant
Transcription ID ENST00000395891
Start 43444898:43444898(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1726G>A
AA Mutation p.Gly576Ser(p.G576S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 36
Mutation Consequence missense_variant
Transcription ID ENST00000395891
Start 43444581:43444581(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1409C>T
AA Mutation p.Ala470Val(p.A470V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 37
Mutation Consequence missense_variant
Transcription ID ENST00000395891
Start 43561819:43561819(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4714C>T
AA Mutation p.His1572Tyr(p.H1572Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 38
Mutation Consequence synonymous_variant
Transcription ID ENST00000395891
Start 43445146:43445146(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1974C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 39
Mutation Consequence synonymous_variant
Transcription ID ENST00000395891
Start 43508990:43508990(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs764833849
CDS Mutation c.3888G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 40
Mutation Consequence synonymous_variant
Transcription ID ENST00000395891
Start 43444897:43444897(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs771700017
CDS Mutation c.1725C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 41
Mutation Consequence synonymous_variant
Transcription ID ENST00000395891
Start 43444906:43444906(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1734G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 42
Mutation Consequence synonymous_variant
Transcription ID ENST00000395891
Start 43311831:43311831(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.96A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 43
Mutation Consequence synonymous_variant
Transcription ID ENST00000395891
Start 43312005:43312005(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.270C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 44
Mutation Consequence synonymous_variant
Transcription ID ENST00000395891
Start 43444957:43444957(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1785G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 45
Mutation Consequence synonymous_variant
Transcription ID ENST00000395891
Start 43550588:43550588(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4392C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 46
Mutation Consequence synonymous_variant
Transcription ID ENST00000395891
Start 43444297:43444297(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1125C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 47
Mutation Consequence synonymous_variant
Transcription ID ENST00000395891
Start 43561860:43561860(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4755G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 48
Mutation Consequence synonymous_variant
Transcription ID ENST00000395891
Start 43444921:43444921(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs763171223
CDS Mutation c.1749C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 49
Mutation Consequence synonymous_variant
Transcription ID ENST00000395891
Start 43444987:43444987(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1815G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 50
Mutation Consequence synonymous_variant
Transcription ID ENST00000395891
Start 43445383:43445383(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2211C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 51
Mutation Consequence synonymous_variant
Transcription ID ENST00000395891
Start 43438074:43438074(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.873C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 52
Mutation Consequence synonymous_variant
Transcription ID ENST00000395891
Start 43561818:43561818(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4713A>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 53
Mutation Consequence synonymous_variant
Transcription ID ENST00000395891
Start 43444228:43444228(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1056G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 54
Mutation Consequence synonymous_variant
Transcription ID ENST00000395891
Start 43311909:43311909(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.174C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 55
Mutation Consequence synonymous_variant
Transcription ID ENST00000395891
Start 43444822:43444822(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs763924846
CDS Mutation c.1650C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 56
Mutation Consequence synonymous_variant
Transcription ID ENST00000395891
Start 43554635:43554635(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs752091640
CDS Mutation c.4554G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 57
Mutation Consequence synonymous_variant
Transcription ID ENST00000395891
Start 43445476:43445476(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2304G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 58
Mutation Consequence synonymous_variant
Transcription ID ENST00000395891
Start 43463750:43463750(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs751092336
CDS Mutation c.2742C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 59
Mutation Consequence frameshift_variant
Transcription ID ENST00000395891
Start 43509045:43509046(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.3944_3945delTT
AA Mutation p.Phe1315Ter(p.F1315*)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 60
Mutation Consequence stop_gained
Transcription ID ENST00000395891
Start 43407690:43407690(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.760A>T
AA Mutation p.Lys254Ter(p.K254*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 61
Mutation Consequence stop_gained
Transcription ID ENST00000395891
Start 43445278:43445278(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2106C>A
AA Mutation p.Cys702Ter(p.C702*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 62
Mutation Consequence frameshift_variant
Transcription ID ENST00000395891
Start 43444526:43444527(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.1359dupC
AA Mutation p.Ser454GlnfsTer13(p.S454Qfs*13)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 63
Mutation Consequence frameshift_variant
Transcription ID ENST00000395891
Start 43360902:43360903(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.477_478insAACATAA
AA Mutation p.Phe160AsnfsTer31(p.F160Nfs*31)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 64
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000395891
Start 43456296:43456296(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2501-1G>C
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 65
Mutation Consequence splice_donor_variant
Transcription ID ENST00000395891
Start 43312088:43312088(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.352+1G>T
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 66
Mutation Consequence splice_donor_variant
Transcription ID ENST00000395891
Start 43320743:43320743(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.460+1G>A
Mutation Classification Splice_Site
Feature Type Transcript

Rectum Cancer: Gene >> HECW1

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000395891
Start 43508085:43508085(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3820G>A
AA Mutation p.Glu1274Lys(p.E1274K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000395891
Start 43445549:43445549(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2377G>A
AA Mutation p.Gly793Ser(p.G793S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000395891
Start 43445384:43445384(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2212G>A
AA Mutation p.Asp738Asn(p.D738N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000395891
Start 43507245:43507245(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs759660521
CDS Mutation c.3740C>T
AA Mutation p.Pro1247Leu(p.P1247L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000395891
Start 43444812:43444812(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs777261023
CDS Mutation c.1640C>T
AA Mutation p.Ala547Val(p.A547V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000395891
Start 43396859:43396859(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.601A>C
AA Mutation p.Ser201Arg(p.S201R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000395891
Start 43541179:43541179(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4036C>T
AA Mutation p.Arg1346Cys(p.R1346C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000395891
Start 43508999:43508999(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3897C>A
AA Mutation p.Phe1299Leu(p.F1299L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000395891
Start 43463796:43463796(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2788T>G
AA Mutation p.Leu930Val(p.L930V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000395891
Start 43500770:43500770(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3509T>C
AA Mutation p.Val1170Ala(p.V1170A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000395891
Start 43552312:43552312(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs780552522
CDS Mutation c.4486C>T
AA Mutation p.Arg1496Trp(p.R1496W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence synonymous_variant
Transcription ID ENST00000395891
Start 43445485:43445485(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs532202982
CDS Mutation c.2313C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 13
Mutation Consequence synonymous_variant
Transcription ID ENST00000395891
Start 43541923:43541923(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs532223116
CDS Mutation c.4173G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 14
Mutation Consequence synonymous_variant
Transcription ID ENST00000395891
Start 43500771:43500771(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3510C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 15
Mutation Consequence synonymous_variant
Transcription ID ENST00000395891
Start 43541226:43541226(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4083C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 16
Mutation Consequence synonymous_variant
Transcription ID ENST00000395891
Start 43466493:43466493(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2838C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 17
Mutation Consequence stop_gained
Transcription ID ENST00000395891
Start 43541891:43541891(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4141G>T
AA Mutation p.Glu1381Ter(p.E1381*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript