Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> ABCA13

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48350796:48350796(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10358T>G
AA Mutation p.Leu3453Trp(p.L3453W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48455127:48455127(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.12656C>T
AA Mutation p.Thr4219Met(p.T4219M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48427775:48427775(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs774085026
CDS Mutation c.12469A>T
AA Mutation p.Met4157Leu(p.M4157L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48272111:48272111(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2445A>C
AA Mutation p.Glu815Asp(p.E815D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48410577:48410577(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs766530816
CDS Mutation c.12128G>A
AA Mutation p.Arg4043His(p.R4043H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48219439:48219439(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.373A>T
AA Mutation p.Ile125Phe(p.I125F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48466966:48466966(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs765749513
CDS Mutation c.12826G>A
AA Mutation p.Asp4276Asn(p.D4276N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48387834:48387834(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11348T>C
AA Mutation p.Leu3783Ser(p.L3783S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48594726:48594726(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.14657G>T
AA Mutation p.Gly4886Val(p.G4886V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48314367:48314367(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9817T>A
AA Mutation p.Leu3273Met(p.L3273M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48272952:48272952(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3286G>A
AA Mutation p.Asp1096Asn(p.D1096N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48275058:48275058(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5392C>T
AA Mutation p.Leu1798Phe(p.L1798F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48279143:48279143(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7949A>G
AA Mutation p.Glu2650Gly(p.E2650G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48279449:48279449(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8255A>C
AA Mutation p.Lys2752Thr(p.K2752T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48511129:48511129(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.13570G>A
AA Mutation p.Ala4524Thr(p.A4524T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48587238:48587238(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.14590A>C
AA Mutation p.Lys4864Gln(p.K4864Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48524382:48524382(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs372286953
CDS Mutation c.14186G>A
AA Mutation p.Arg4729His(p.R4729H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48274435:48274435(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4769T>C
AA Mutation p.Val1590Ala(p.V1590A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48279447:48279447(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8253G>T
AA Mutation p.Lys2751Asn(p.K2751N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48279719:48279719(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8525G>T
AA Mutation p.Arg2842Ile(p.R2842I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48376528:48376528(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.11291G>T
AA Mutation p.Ser3764Ile(p.S3764I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000435803
Start 48313067:48313067(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.9517A>T
AA Mutation p.Thr3173Ser(p.T3173S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48466985:48466985(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs201934902
CDS Mutation c.12845G>A
AA Mutation p.Arg4282His(p.R4282H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 24
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48367893:48367893(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10788G>T
AA Mutation p.Glu3596Asp(p.E3596D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 25
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48524411:48524411(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.14215G>T
AA Mutation p.Asp4739Tyr(p.D4739Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 26
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48272917:48272917(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3251G>A
AA Mutation p.Ser1084Asn(p.S1084N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 27
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48389143:48389143(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11577A>C
AA Mutation p.Gln3859His(p.Q3859H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 28
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48278491:48278491(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7297T>A
AA Mutation p.Ser2433Thr(p.S2433T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 29
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48278744:48278744(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7550C>A
AA Mutation p.Thr2517Lys(p.T2517K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 30
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48466997:48466997(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs374724171
CDS Mutation c.12857G>A
AA Mutation p.Arg4286Gln(p.R4286Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 31
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48276286:48276286(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6620A>T
AA Mutation p.Asn2207Ile(p.N2207I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 32
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48272486:48272486(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2820A>C
AA Mutation p.Glu940Asp(p.E940D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 33
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48279510:48279510(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8316G>T
AA Mutation p.Leu2772Phe(p.L2772F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 34
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48279161:48279161(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs375861638
CDS Mutation c.7967C>T
AA Mutation p.Ala2656Val(p.A2656V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 35
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48403787:48403787(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.11978T>C
AA Mutation p.Met3993Thr(p.M3993T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 36
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48455166:48455166(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.12695T>C
AA Mutation p.Leu4232Pro(p.L4232P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 37
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48275845:48275845(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6179C>A
AA Mutation p.Pro2060His(p.P2060H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 38
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48279766:48279766(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs758362582
CDS Mutation c.8572G>A
AA Mutation p.Gly2858Arg(p.G2858R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 39
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48275448:48275448(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5782G>C
AA Mutation p.Val1928Leu(p.V1928L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 40
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48273953:48273953(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4287C>A
AA Mutation p.Asn1429Lys(p.N1429K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 41
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48352456:48352456(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10657G>A
AA Mutation p.Ala3553Thr(p.A3553T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 42
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48227341:48227341(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.548T>G
AA Mutation p.Leu183Arg(p.L183R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 43
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48317230:48317230(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9933A>C
AA Mutation p.Lys3311Asn(p.K3311N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 44
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48272508:48272508(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs779473888
CDS Mutation c.2842A>G
AA Mutation p.Ile948Val(p.I948V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 45
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48278972:48278972(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7778C>A
AA Mutation p.Pro2593Gln(p.P2593Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 46
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48274185:48274185(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4519T>G
AA Mutation p.Leu1507Val(p.L1507V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 47
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48279166:48279166(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7972G>C
AA Mutation p.Ala2658Pro(p.A2658P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 48
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48245897:48245897(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1526G>A
AA Mutation p.Arg509His(p.R509H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 49
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48248258:48248258(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1679T>C
AA Mutation p.Val560Ala(p.V560A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 50
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48273358:48273358(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3692T>C
AA Mutation p.Leu1231Pro(p.L1231P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 51
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48274787:48274787(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5121T>A
AA Mutation p.Asn1707Lys(p.N1707K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 52
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48275722:48275722(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs372307172
CDS Mutation c.6056C>T
AA Mutation p.Thr2019Met(p.T2019M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 53
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48367814:48367814(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10709T>A
AA Mutation p.Phe3570Tyr(p.F3570Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 54
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48249232:48249232(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1886A>G
AA Mutation p.Lys629Arg(p.K629R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 55
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48272314:48272314(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2648A>G
AA Mutation p.Lys883Arg(p.K883R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 56
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48272494:48272494(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2828A>C
AA Mutation p.Lys943Thr(p.K943T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 57
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48272886:48272886(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3220G>A
AA Mutation p.Asp1074Asn(p.D1074N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 58
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48275236:48275236(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5570G>A
AA Mutation p.Ser1857Asn(p.S1857N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 59
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48275612:48275612(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5946G>T
AA Mutation p.Lys1982Asn(p.K1982N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 60
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48352289:48352289(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs566783688
CDS Mutation c.10490G>A
AA Mutation p.Arg3497Gln(p.R3497Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 61
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48389053:48389053(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.11487A>C
AA Mutation p.Gln3829His(p.Q3829H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 62
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48524304:48524304(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.14108A>C
AA Mutation p.Lys4703Thr(p.K4703T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 63
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48274477:48274477(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4811T>A
AA Mutation p.Leu1604His(p.L1604H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 64
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48338439:48338439(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10188A>T
AA Mutation p.Glu3396Asp(p.E3396D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 65
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48279820:48279820(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8626T>C
AA Mutation p.Phe2876Leu(p.F2876L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 66
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48276142:48276142(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6476C>T
AA Mutation p.Ala2159Val(p.A2159V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 67
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48309968:48309968(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs779489739
CDS Mutation c.9343G>A
AA Mutation p.Val3115Ile(p.V3115I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 68
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48352207:48352207(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs758749091
CDS Mutation c.10408G>A
AA Mutation p.Asp3470Asn(p.D3470N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 69
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48352356:48352356(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs746677896
CDS Mutation c.10557A>C
AA Mutation p.Lys3519Asn(p.K3519N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 70
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48279032:48279032(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7838A>T
AA Mutation p.Asp2613Val(p.D2613V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 71
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48410545:48410545(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.12096C>A
AA Mutation p.His4032Gln(p.H4032Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 72
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48219476:48219476(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs201247339
CDS Mutation c.410G>T
AA Mutation p.Arg137Ile(p.R137I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 73
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48276546:48276546(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6880G>T
AA Mutation p.Asp2294Tyr(p.D2294Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 74
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48273421:48273421(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3755A>G
AA Mutation p.Gln1252Arg(p.Q1252R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 75
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48278419:48278419(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7225C>A
AA Mutation p.Leu2409Ile(p.L2409I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 76
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48412389:48412389(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.12265G>A
AA Mutation p.Ala4089Thr(p.A4089T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 77
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48272994:48272994(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs201667847
CDS Mutation c.3328G>A
AA Mutation p.Val1110Ile(p.V1110I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 78
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48524274:48524274(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.14078T>C
AA Mutation p.Val4693Ala(p.V4693A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 79
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48392097:48392097(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs147700914
CDS Mutation c.11831C>T
AA Mutation p.Ala3944Val(p.A3944V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 80
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48594800:48594800(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.14731C>A
AA Mutation p.Leu4911Met(p.L4911M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 81
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48392081:48392081(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11815T>C
AA Mutation p.Phe3939Leu(p.F3939L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 82
Mutation Consequence synonymous_variant
Transcription ID ENST00000435803
Start 48275414:48275414(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5748T>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 83
Mutation Consequence synonymous_variant
Transcription ID ENST00000435803
Start 48245525:48245525(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1404C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 84
Mutation Consequence synonymous_variant
Transcription ID ENST00000435803
Start 48271916:48271916(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2250C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 85
Mutation Consequence synonymous_variant
Transcription ID ENST00000435803
Start 48350677:48350677(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs374748171
CDS Mutation c.10239C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 86
Mutation Consequence synonymous_variant
Transcription ID ENST00000435803
Start 48274559:48274559(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4893T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 87
Mutation Consequence synonymous_variant
Transcription ID ENST00000435803
Start 48466965:48466965(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs762367233
CDS Mutation c.12825C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 88
Mutation Consequence synonymous_variant
Transcription ID ENST00000435803
Start 48314324:48314324(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs371721140
CDS Mutation c.9774C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 89
Mutation Consequence synonymous_variant
Transcription ID ENST00000435803
Start 48275039:48275039(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs368321892
CDS Mutation c.5373C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 90
Mutation Consequence synonymous_variant
Transcription ID ENST00000435803
Start 48389197:48389197(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs374031988
CDS Mutation c.11631C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 91
Mutation Consequence synonymous_variant
Transcription ID ENST00000435803
Start 48511152:48511152(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.13593T>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 92
Mutation Consequence synonymous_variant
Transcription ID ENST00000435803
Start 48508043:48508043(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs781427056
CDS Mutation c.13518T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 93
Mutation Consequence synonymous_variant
Transcription ID ENST00000435803
Start 48279252:48279252(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8058C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 94
Mutation Consequence synonymous_variant
Transcription ID ENST00000435803
Start 48272474:48272474(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2808A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 95
Mutation Consequence synonymous_variant
Transcription ID ENST00000435803
Start 48587186:48587186(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs749577867
CDS Mutation c.14538C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 96
Mutation Consequence synonymous_variant
Transcription ID ENST00000435803
Start 48274508:48274508(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4842T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 97
Mutation Consequence synonymous_variant
Transcription ID ENST00000435803
Start 48391933:48391933(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs367685852
CDS Mutation c.11667G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 98
Mutation Consequence synonymous_variant
Transcription ID ENST00000435803
Start 48279162:48279162(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs187797177
CDS Mutation c.7968G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 99
Mutation Consequence synonymous_variant
Transcription ID ENST00000435803
Start 48372263:48372263(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10899C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 100
Mutation Consequence synonymous_variant
Transcription ID ENST00000435803
Start 48274916:48274916(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5250T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 101
Mutation Consequence synonymous_variant
Transcription ID ENST00000435803
Start 48276449:48276449(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6783A>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 102
Mutation Consequence synonymous_variant
Transcription ID ENST00000435803
Start 48455224:48455224(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.12753C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 103
Mutation Consequence frameshift_variant
Transcription ID ENST00000435803
Start 48221300:48221300(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.465delT
AA Mutation p.Phe155LeufsTer11(p.F155Lfs*11)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 104
Mutation Consequence frameshift_variant;splice_region_variant
Transcription ID ENST00000435803
Start 48268981:48268981(version: GRCh38)
Mutation Type DEL
dbSNP_RS rs758897835
CDS Mutation c.2010delT
AA Mutation p.Pro671LeufsTer15(p.P671Lfs*15)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 105
Mutation Consequence frameshift_variant
Transcription ID ENST00000435803
Start 48389131:48389153(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.11565_11587delGGCTGTGGTCCAAGACCTCAGCC
AA Mutation p.Lys3855AsnfsTer139(p.K3855Nfs*139)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 106
Mutation Consequence frameshift_variant
Transcription ID ENST00000435803
Start 48276226:48276226(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.6562delC
AA Mutation p.His2188IlefsTer3(p.H2188Ifs*3)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 107
Mutation Consequence frameshift_variant
Transcription ID ENST00000435803
Start 48274953:48274953(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.5291delA
AA Mutation p.Asn1764ThrfsTer18(p.N1764Tfs*18)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 108
Mutation Consequence frameshift_variant
Transcription ID ENST00000435803
Start 48506365:48506365(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.13324delG
AA Mutation p.Ala4442ProfsTer3(p.A4442Pfs*3)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 109
Mutation Consequence stop_gained
Transcription ID ENST00000435803
Start 48279220:48279220(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs375142489
CDS Mutation c.8026G>T
AA Mutation p.Glu2676Ter(p.E2676*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 110
Mutation Consequence stop_gained
Transcription ID ENST00000435803
Start 48273618:48273618(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3952G>T
AA Mutation p.Glu1318Ter(p.E1318*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 111
Mutation Consequence stop_gained
Transcription ID ENST00000435803
Start 48279790:48279790(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs551407561
CDS Mutation c.8596G>T
AA Mutation p.Glu2866Ter(p.E2866*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 112
Mutation Consequence stop_gained
Transcription ID ENST00000435803
Start 48248313:48248313(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1734G>A
AA Mutation p.Trp578Ter(p.W578*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 113
Mutation Consequence stop_gained
Transcription ID ENST00000435803
Start 48276093:48276093(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6427G>T
AA Mutation p.Glu2143Ter(p.E2143*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 114
Mutation Consequence stop_gained
Transcription ID ENST00000435803
Start 48278242:48278242(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7048G>T
AA Mutation p.Glu2350Ter(p.E2350*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 115
Mutation Consequence stop_gained
Transcription ID ENST00000435803
Start 48310124:48310124(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9499C>T
AA Mutation p.Arg3167Ter(p.R3167*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 116
Mutation Consequence stop_gained
Transcription ID ENST00000435803
Start 48376550:48376550(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.11313G>A
AA Mutation p.Trp3771Ter(p.W3771*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 117
Mutation Consequence stop_gained
Transcription ID ENST00000435803
Start 48272194:48272194(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2528C>G
AA Mutation p.Ser843Ter(p.S843*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 118
Mutation Consequence stop_gained
Transcription ID ENST00000435803
Start 48276459:48276459(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6793G>T
AA Mutation p.Glu2265Ter(p.E2265*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 119
Mutation Consequence stop_gained
Transcription ID ENST00000435803
Start 48229855:48229855(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.663G>A
AA Mutation p.Trp221Ter(p.W221*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 120
Mutation Consequence stop_gained
Transcription ID ENST00000435803
Start 48219490:48219490(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs369201533
CDS Mutation c.424C>T
AA Mutation p.Arg142Ter(p.R142*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 121
Mutation Consequence stop_gained
Transcription ID ENST00000435803
Start 48520119:48520119(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.13876G>T
AA Mutation p.Glu4626Ter(p.E4626*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 122
Mutation Consequence stop_gained
Transcription ID ENST00000435803
Start 48219410:48219410(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.344T>A
AA Mutation p.Leu115Ter(p.L115*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 123
Mutation Consequence frameshift_variant
Transcription ID ENST00000435803
Start 48274262:48274263(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.4596_4597insCT
AA Mutation p.Ser1533LeufsTer16(p.S1533Lfs*16)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 124
Mutation Consequence frameshift_variant
Transcription ID ENST00000435803
Start 48273400:48273401(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.3741dupA
AA Mutation p.Leu1248ThrfsTer2(p.L1248Tfs*2)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 125
Mutation Consequence frameshift_variant
Transcription ID ENST00000435803
Start 48221299:48221300(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.465dupT
AA Mutation p.Thr156TyrfsTer6(p.T156Yfs*6)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 126
Mutation Consequence frameshift_variant
Transcription ID ENST00000435803
Start 48273997:48273998(version: GRCh38)
Mutation Type INS
dbSNP_RS rs781126037
CDS Mutation c.4338dupA
AA Mutation p.Pro1447ThrfsTer22(p.P1447Tfs*22)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 127
Mutation Consequence frameshift_variant
Transcription ID ENST00000435803
Start 48274267:48274268(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.4602_4603insTTAGGTTTCTTCTCTT
AA Mutation p.Glu1535LeufsTer6(p.E1535Lfs*6)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 128
Mutation Consequence frameshift_variant
Transcription ID ENST00000435803
Start 48275509:48275510(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.5843_5844insTCGGG
AA Mutation p.Lys1949ArgfsTer10(p.K1949Rfs*10)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 129
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000435803
Start 48427765:48427765(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs772919140
CDS Mutation c.12460-1G>T
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 130
Mutation Consequence splice_donor_variant
Transcription ID ENST00000435803
Start 48516882:48516882(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.13797+1G>A
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 131
Mutation Consequence inframe_insertion
Transcription ID ENST00000435803
Start 48272558:48272559(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.2892_2893insCATGGAGAC
AA Mutation p.Ile964_Tyr965insHisGlyAsp(p.I964_Y965insHGD)
Mutation Classification In_Frame_Ins
Feature Type Transcript
Mutation ID 132
Mutation Consequence protein_altering_variant
Transcription ID ENST00000435803
Start 48507990:48507991(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.13465_13466insGGGTGG
AA Mutation p.Gln4489delinsArgValGlu(p.Q4489delinsRVE)
Mutation Classification In_Frame_Ins
Feature Type Transcript

Rectum Cancer: Gene >> ABCA13

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48520218:48520218(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs369296047
CDS Mutation c.13975G>A
AA Mutation p.Val4659Met(p.V4659M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48272694:48272694(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs770574570
CDS Mutation c.3028G>A
AA Mutation p.Ala1010Thr(p.A1010T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48272971:48272971(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs375389053
CDS Mutation c.3305C>T
AA Mutation p.Ser1102Leu(p.S1102L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48276520:48276520(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6854C>A
AA Mutation p.Ser2285Tyr(p.S2285Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48278242:48278242(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7048G>A
AA Mutation p.Glu2350Lys(p.E2350K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48352289:48352289(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs566783688
CDS Mutation c.10490G>A
AA Mutation p.Arg3497Gln(p.R3497Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48455270:48455270(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.12799G>A
AA Mutation p.Glu4267Lys(p.E4267K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48295749:48295749(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9005T>A
AA Mutation p.Leu3002His(p.L3002H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48274338:48274338(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4672G>T
AA Mutation p.Val1558Leu(p.V1558L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48387836:48387836(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs373647440
CDS Mutation c.11350C>T
AA Mutation p.Arg3784Trp(p.R3784W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48272349:48272349(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2683A>T
AA Mutation p.Ser895Cys(p.S895C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48279480:48279480(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8286G>A
AA Mutation p.Met2762Ile(p.M2762I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48279032:48279032(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7838A>C
AA Mutation p.Asp2613Ala(p.D2613A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48455156:48455156(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.12685G>A
AA Mutation p.Asp4229Asn(p.D4229N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48275547:48275547(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5881A>C
AA Mutation p.Asn1961His(p.N1961H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48275541:48275541(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5875C>A
AA Mutation p.Leu1959Ile(p.L1959I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48219438:48219438(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.372A>C
AA Mutation p.Glu124Asp(p.E124D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48239264:48239264(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.921G>T
AA Mutation p.Glu307Asp(p.E307D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48245939:48245939(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs369781498
CDS Mutation c.1568G>A
AA Mutation p.Ser523Asn(p.S523N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48272364:48272364(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2698A>C
AA Mutation p.Thr900Pro(p.T900P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48273654:48273654(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3988G>T
AA Mutation p.Ala1330Ser(p.A1330S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48274558:48274558(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs772829022
CDS Mutation c.4892G>T
AA Mutation p.Gly1631Val(p.G1631V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48275302:48275302(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs763421969
CDS Mutation c.5636G>A
AA Mutation p.Arg1879Gln(p.R1879Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 24
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48275797:48275797(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6131G>T
AA Mutation p.Ser2044Ile(p.S2044I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 25
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48412412:48412412(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.12288G>T
AA Mutation p.Lys4096Asn(p.K4096N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 26
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48507886:48507886(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.13361G>A
AA Mutation p.Arg4454His(p.R4454H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 27
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48524379:48524379(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs766502956
CDS Mutation c.14183G>A
AA Mutation p.Arg4728Gln(p.R4728Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 28
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48587196:48587196(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs746265472
CDS Mutation c.14548G>A
AA Mutation p.Ala4850Thr(p.A4850T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 29
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000435803
Start 48594813:48594813(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs756698024
CDS Mutation c.14744G>A
AA Mutation p.Ser4915Asn(p.S4915N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 30
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48272548:48272548(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2882T>G
AA Mutation p.Leu961Arg(p.L961R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 31
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48389204:48389204(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs775942969
CDS Mutation c.11638G>A
AA Mutation p.Gly3880Arg(p.G3880R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 32
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48244683:48244683(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1370A>C
AA Mutation p.Gln457Pro(p.Q457P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 33
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48274059:48274059(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4393G>T
AA Mutation p.Asp1465Tyr(p.D1465Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 34
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48275622:48275622(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs757708070
CDS Mutation c.5956A>G
AA Mutation p.Ile1986Val(p.I1986V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 35
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48279035:48279035(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7841T>C
AA Mutation p.Ile2614Thr(p.I2614T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 36
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48352393:48352393(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs759818169
CDS Mutation c.10594G>A
AA Mutation p.Glu3532Lys(p.E3532K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 37
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48644702:48644702(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.15029A>C
AA Mutation p.Lys5010Thr(p.K5010T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 38
Mutation Consequence synonymous_variant
Transcription ID ENST00000435803
Start 48198268:48198268(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.195T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 39
Mutation Consequence synonymous_variant
Transcription ID ENST00000435803
Start 48427867:48427867(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.12561C>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 40
Mutation Consequence synonymous_variant
Transcription ID ENST00000435803
Start 48392029:48392029(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs372260479
CDS Mutation c.11763G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 41
Mutation Consequence synonymous_variant
Transcription ID ENST00000435803
Start 48272486:48272486(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2820A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 42
Mutation Consequence synonymous_variant
Transcription ID ENST00000435803
Start 48410527:48410527(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs749688838
CDS Mutation c.12078G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 43
Mutation Consequence frameshift_variant
Transcription ID ENST00000435803
Start 48273400:48273401(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.3741dupA
AA Mutation p.Leu1248ThrfsTer2(p.L1248Tfs*2)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript