Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> MXRA5

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000217939
Start 3323313:3323313(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs41297261
CDS Mutation c.2372G>A
AA Mutation p.Arg791His(p.R791H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000217939
Start 3317241:3317241(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6440G>A
AA Mutation p.Arg2147His(p.R2147H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000217939
Start 3323991:3323991(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs779077720
CDS Mutation c.1694G>A
AA Mutation p.Arg565His(p.R565H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000217939
Start 3309922:3309922(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8281C>T
AA Mutation p.Pro2761Ser(p.P2761S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000217939
Start 3311383:3311383(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6820G>A
AA Mutation p.Glu2274Lys(p.E2274K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000217939
Start 3322151:3322151(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3534G>T
AA Mutation p.Glu1178Asp(p.E1178D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000217939
Start 3322833:3322833(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs781169634
CDS Mutation c.2852C>T
AA Mutation p.Ser951Leu(p.S951L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000217939
Start 3311122:3311122(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7081G>A
AA Mutation p.Gly2361Arg(p.G2361R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000217939
Start 3323401:3323401(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2284C>T
AA Mutation p.Arg762Cys(p.R762C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000217939
Start 3343655:3343655(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.179T>A
AA Mutation p.Ile60Asn(p.I60N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000217939
Start 3343683:3343683(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs753016834
CDS Mutation c.151G>A
AA Mutation p.Ala51Thr(p.A51T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000217939
Start 3310156:3310156(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8047C>A
AA Mutation p.Gln2683Lys(p.Q2683K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000217939
Start 3320863:3320863(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4822G>A
AA Mutation p.Val1608Ile(p.V1608I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000217939
Start 3317112:3317112(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs756980812
CDS Mutation c.6569C>T
AA Mutation p.Ala2190Val(p.A2190V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000217939
Start 3322723:3322723(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2962C>T
AA Mutation p.Pro988Ser(p.P988S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000217939
Start 3310981:3310981(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7222G>T
AA Mutation p.Ala2408Ser(p.A2408S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000217939
Start 3317260:3317260(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs772595689
CDS Mutation c.6421C>T
AA Mutation p.Arg2141Cys(p.R2141C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000217939
Start 3310512:3310512(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7691G>T
AA Mutation p.Cys2564Phe(p.C2564F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000217939
Start 3322551:3322551(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3134A>G
AA Mutation p.Lys1045Arg(p.K1045R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000217939
Start 3324813:3324813(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.872G>A
AA Mutation p.Ser291Asn(p.S291N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000217939
Start 3323518:3323518(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2167T>C
AA Mutation p.Phe723Leu(p.F723L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000217939
Start 3323556:3323556(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs201138126
CDS Mutation c.2129C>A
AA Mutation p.Thr710Asn(p.T710N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000217939
Start 3322285:3322285(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3400C>A
AA Mutation p.Gln1134Lys(p.Q1134K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 24
Mutation Consequence missense_variant
Transcription ID ENST00000217939
Start 3309724:3309724(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs745493018
CDS Mutation c.8479G>A
AA Mutation p.Val2827Ile(p.V2827I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 25
Mutation Consequence missense_variant
Transcription ID ENST00000217939
Start 3317484:3317484(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6197A>G
AA Mutation p.His2066Arg(p.H2066R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 26
Mutation Consequence missense_variant
Transcription ID ENST00000217939
Start 3330761:3330761(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.201A>G
AA Mutation p.Ile67Met(p.I67M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 27
Mutation Consequence missense_variant
Transcription ID ENST00000217939
Start 3330732:3330732(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.230G>C
AA Mutation p.Gly77Ala(p.G77A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 28
Mutation Consequence missense_variant
Transcription ID ENST00000217939
Start 3324636:3324636(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs768203807
CDS Mutation c.1049C>T
AA Mutation p.Thr350Met(p.T350M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 29
Mutation Consequence missense_variant
Transcription ID ENST00000217939
Start 3311593:3311593(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6610G>T
AA Mutation p.Gly2204Trp(p.G2204W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 30
Mutation Consequence missense_variant
Transcription ID ENST00000217939
Start 3311158:3311158(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs369042203
CDS Mutation c.7045C>T
AA Mutation p.Arg2349Trp(p.R2349W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 31
Mutation Consequence missense_variant
Transcription ID ENST00000217939
Start 3322659:3322659(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3026T>G
AA Mutation p.Val1009Gly(p.V1009G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 32
Mutation Consequence missense_variant
Transcription ID ENST00000217939
Start 3323605:3323605(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2080G>C
AA Mutation p.Asp694His(p.D694H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 33
Mutation Consequence missense_variant
Transcription ID ENST00000217939
Start 3324841:3324841(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs147525665
CDS Mutation c.844T>C
AA Mutation p.Ser282Pro(p.S282P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 34
Mutation Consequence missense_variant
Transcription ID ENST00000217939
Start 3321868:3321868(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3817T>C
AA Mutation p.Ser1273Pro(p.S1273P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 35
Mutation Consequence missense_variant
Transcription ID ENST00000217939
Start 3317154:3317154(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs766618264
CDS Mutation c.6527C>T
AA Mutation p.Pro2176Leu(p.P2176L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 36
Mutation Consequence missense_variant
Transcription ID ENST00000217939
Start 3324749:3324749(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs747951499
CDS Mutation c.936A>C
AA Mutation p.Gln312His(p.Q312H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 37
Mutation Consequence missense_variant
Transcription ID ENST00000217939
Start 3310734:3310734(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7469A>G
AA Mutation p.Tyr2490Cys(p.Y2490C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 38
Mutation Consequence missense_variant
Transcription ID ENST00000217939
Start 3317221:3317221(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6460C>T
AA Mutation p.Arg2154Trp(p.R2154W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 39
Mutation Consequence missense_variant
Transcription ID ENST00000217939
Start 3321886:3321886(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3799A>G
AA Mutation p.Asn1267Asp(p.N1267D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 40
Mutation Consequence missense_variant
Transcription ID ENST00000217939
Start 3317583:3317583(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6098C>T
AA Mutation p.Ala2033Val(p.A2033V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 41
Mutation Consequence missense_variant
Transcription ID ENST00000217939
Start 3311592:3311592(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6611G>T
AA Mutation p.Gly2204Val(p.G2204V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 42
Mutation Consequence synonymous_variant
Transcription ID ENST00000217939
Start 3320234:3320234(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5451C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 43
Mutation Consequence synonymous_variant
Transcription ID ENST00000217939
Start 3322958:3322958(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2727A>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 44
Mutation Consequence synonymous_variant
Transcription ID ENST00000217939
Start 3317804:3317804(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5877C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 45
Mutation Consequence synonymous_variant
Transcription ID ENST00000217939
Start 3317879:3317879(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs757827523
CDS Mutation c.5802C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 46
Mutation Consequence synonymous_variant
Transcription ID ENST00000217939
Start 3311294:3311294(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6909C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 47
Mutation Consequence synonymous_variant
Transcription ID ENST00000217939
Start 3323555:3323555(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2130T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 48
Mutation Consequence synonymous_variant
Transcription ID ENST00000217939
Start 3324260:3324260(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1425C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 49
Mutation Consequence synonymous_variant
Transcription ID ENST00000217939
Start 3311330:3311330(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs141500951
CDS Mutation c.6873G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 50
Mutation Consequence synonymous_variant
Transcription ID ENST00000217939
Start 3320087:3320087(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5598C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 51
Mutation Consequence synonymous_variant
Transcription ID ENST00000217939
Start 3317563:3317563(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6118C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 52
Mutation Consequence synonymous_variant
Transcription ID ENST00000217939
Start 3310355:3310355(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs151002571
CDS Mutation c.7848C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 53
Mutation Consequence synonymous_variant
Transcription ID ENST00000217939
Start 3330358:3330358(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.369C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 54
Mutation Consequence synonymous_variant
Transcription ID ENST00000217939
Start 3330376:3330376(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.351G>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 55
Mutation Consequence synonymous_variant
Transcription ID ENST00000217939
Start 3317279:3317279(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6402G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 56
Mutation Consequence synonymous_variant
Transcription ID ENST00000217939
Start 3310187:3310187(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8016G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 57
Mutation Consequence synonymous_variant
Transcription ID ENST00000217939
Start 3311267:3311267(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6936C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 58
Mutation Consequence synonymous_variant
Transcription ID ENST00000217939
Start 3320681:3320681(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5004A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 59
Mutation Consequence synonymous_variant
Transcription ID ENST00000217939
Start 3323693:3323693(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1992G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 60
Mutation Consequence synonymous_variant
Transcription ID ENST00000217939
Start 3343717:3343717(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.117C>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 61
Mutation Consequence synonymous_variant
Transcription ID ENST00000217939
Start 3317393:3317393(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6288C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 62
Mutation Consequence synonymous_variant
Transcription ID ENST00000217939
Start 3317291:3317291(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs761305099
CDS Mutation c.6390C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 63
Mutation Consequence synonymous_variant
Transcription ID ENST00000217939
Start 3317174:3317174(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6507C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 64
Mutation Consequence synonymous_variant
Transcription ID ENST00000217939
Start 3317636:3317636(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs767313319
CDS Mutation c.6045G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 65
Mutation Consequence synonymous_variant
Transcription ID ENST00000217939
Start 3310142:3310142(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs750393124
CDS Mutation c.8061C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 66
Mutation Consequence frameshift_variant
Transcription ID ENST00000217939
Start 3323204:3323204(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.2481delC
AA Mutation p.Ser828GlnfsTer8(p.S828Qfs*8)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 67
Mutation Consequence frameshift_variant
Transcription ID ENST00000217939
Start 3310156:3310156(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.8047delC
AA Mutation p.Gln2683LysfsTer44(p.Q2683Kfs*44)
Mutation Classification Frame_Shift_Del
Feature Type Transcript

Rectum Cancer: Gene >> MXRA5

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000217939
Start 3323599:3323599(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs143552209
CDS Mutation c.2086G>A
AA Mutation p.Val696Met(p.V696M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000217939
Start 3321160:3321160(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4525A>G
AA Mutation p.Thr1509Ala(p.T1509A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000217939
Start 3311151:3311151(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7052A>G
AA Mutation p.Lys2351Arg(p.K2351R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000217939
Start 3321945:3321945(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3740C>T
AA Mutation p.Thr1247Ile(p.T1247I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000217939
Start 3317113:3317113(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6568G>A
AA Mutation p.Ala2190Thr(p.A2190T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000217939
Start 3343820:3343820(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs368706975
CDS Mutation c.14C>T
AA Mutation p.Ala5Val(p.A5V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000217939
Start 3311083:3311083(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7120C>A
AA Mutation p.Pro2374Thr(p.P2374T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000217939
Start 3309757:3309757(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8446C>A
AA Mutation p.Leu2816Ile(p.L2816I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000217939
Start 3311331:3311331(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs778193649
CDS Mutation c.6872C>T
AA Mutation p.Ser2291Leu(p.S2291L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000217939
Start 3320473:3320473(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5212C>A
AA Mutation p.Leu1738Ile(p.L1738I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000217939
Start 3317803:3317803(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5878G>A
AA Mutation p.Val1960Ile(p.V1960I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000217939
Start 3321248:3321248(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4437G>T
AA Mutation p.Gln1479His(p.Q1479H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000217939
Start 3321937:3321937(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3748T>G
AA Mutation p.Ser1250Ala(p.S1250A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000217939
Start 3322933:3322933(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2752T>C
AA Mutation p.Tyr918His(p.Y918H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000217939
Start 3324546:3324546(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1139T>G
AA Mutation p.Leu380Trp(p.L380W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence synonymous_variant
Transcription ID ENST00000217939
Start 3309785:3309785(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8418C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 17
Mutation Consequence synonymous_variant
Transcription ID ENST00000217939
Start 3324938:3324938(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.747C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 18
Mutation Consequence synonymous_variant
Transcription ID ENST00000217939
Start 3310568:3310568(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7635C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 19
Mutation Consequence synonymous_variant
Transcription ID ENST00000217939
Start 3322094:3322094(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3591G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 20
Mutation Consequence synonymous_variant
Transcription ID ENST00000217939
Start 3330106:3330106(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs768082362
CDS Mutation c.621G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 21
Mutation Consequence stop_gained
Transcription ID ENST00000217939
Start 3321595:3321595(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4090G>T
AA Mutation p.Glu1364Ter(p.E1364*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript