Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> PCDH9

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000377865
Start 67228187:67228187(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.254T>G
AA Mutation p.Ile85Ser(p.I85S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000377865
Start 67226462:67226462(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1979A>C
AA Mutation p.Lys660Thr(p.K660T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000377865
Start 66631245:66631245(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3305G>T
AA Mutation p.Arg1102Met(p.R1102M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000377865
Start 66903589:66903589(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3053A>C
AA Mutation p.Lys1018Thr(p.K1018T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000377865
Start 67227487:67227487(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs374072267
CDS Mutation c.954A>C
AA Mutation p.Leu318Phe(p.L318F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000377865
Start 67226811:67226811(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1630G>T
AA Mutation p.Ala544Ser(p.A544S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000377865
Start 67225779:67225779(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs147427572
CDS Mutation c.2662G>A
AA Mutation p.Glu888Lys(p.E888K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000377865
Start 67226707:67226707(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1734A>T
AA Mutation p.Gln578His(p.Q578H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000377865
Start 67225439:67225439(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3002G>A
AA Mutation p.Gly1001Asp(p.G1001D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000377865
Start 67226000:67226000(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2441C>T
AA Mutation p.Thr814Ile(p.T814I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000377865
Start 67225792:67225792(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs371380403
CDS Mutation c.2649C>A
AA Mutation p.Asn883Lys(p.N883K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000377865
Start 67226062:67226062(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2379G>T
AA Mutation p.Glu793Asp(p.E793D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000377865
Start 66631402:66631402(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs368726260
CDS Mutation c.3148C>T
AA Mutation p.Arg1050Cys(p.R1050C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000377865
Start 67228137:67228137(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.304T>C
AA Mutation p.Ser102Pro(p.S102P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000377865
Start 66304900:66304900(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3469C>A
AA Mutation p.Pro1157Thr(p.P1157T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000377865
Start 67228380:67228380(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 17
Mutation Consequence missense_variant
Transcription ID ENST00000377865
Start 67226364:67226364(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2077C>T
AA Mutation p.Pro693Ser(p.P693S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000377865
Start 67225849:67225849(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2592G>T
AA Mutation p.Lys864Asn(p.K864N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000377865
Start 67227795:67227795(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.646G>A
AA Mutation p.Asp216Asn(p.D216N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000377865
Start 67226142:67226142(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs760054864
CDS Mutation c.2299C>A
AA Mutation p.Leu767Ile(p.L767I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000377865
Start 67225941:67225941(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs375314712
CDS Mutation c.2500G>A
AA Mutation p.Val834Ile(p.V834I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000377865
Start 67227555:67227555(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs545745634
CDS Mutation c.886G>A
AA Mutation p.Ala296Thr(p.A296T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000377865
Start 67227438:67227438(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1003G>T
AA Mutation p.Gly335Cys(p.G335C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 24
Mutation Consequence missense_variant
Transcription ID ENST00000377865
Start 67227384:67227384(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1057G>A
AA Mutation p.Asp353Asn(p.D353N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 25
Mutation Consequence missense_variant
Transcription ID ENST00000377865
Start 67226558:67226558(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1883A>C
AA Mutation p.Lys628Thr(p.K628T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 26
Mutation Consequence missense_variant
Transcription ID ENST00000377865
Start 67227858:67227858(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.583A>C
AA Mutation p.Thr195Pro(p.T195P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 27
Mutation Consequence missense_variant
Transcription ID ENST00000377865
Start 67226294:67226294(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2147C>T
AA Mutation p.Thr716Ile(p.T716I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 28
Mutation Consequence missense_variant
Transcription ID ENST00000377865
Start 67227465:67227465(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.976C>T
AA Mutation p.His326Tyr(p.H326Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 29
Mutation Consequence missense_variant
Transcription ID ENST00000377865
Start 67225644:67225644(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2797C>G
AA Mutation p.Pro933Ala(p.P933A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 30
Mutation Consequence missense_variant
Transcription ID ENST00000377865
Start 67226294:67226294(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2147C>A
AA Mutation p.Thr716Asn(p.T716N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 31
Mutation Consequence missense_variant
Transcription ID ENST00000377865
Start 67226072:67226072(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2369G>T
AA Mutation p.Arg790Met(p.R790M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 32
Mutation Consequence missense_variant
Transcription ID ENST00000377865
Start 67227150:67227150(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1291G>T
AA Mutation p.Gly431Cys(p.G431C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 33
Mutation Consequence missense_variant
Transcription ID ENST00000377865
Start 66304704:66304704(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3665A>G
AA Mutation p.Tyr1222Cys(p.Y1222C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 34
Mutation Consequence missense_variant
Transcription ID ENST00000377865
Start 67226438:67226438(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2003T>C
AA Mutation p.Val668Ala(p.V668A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 35
Mutation Consequence missense_variant
Transcription ID ENST00000377865
Start 67227711:67227711(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.730G>T
AA Mutation p.Asp244Tyr(p.D244Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 36
Mutation Consequence missense_variant
Transcription ID ENST00000377865
Start 67227816:67227816(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.625A>G
AA Mutation p.Asn209Asp(p.N209D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 37
Mutation Consequence missense_variant
Transcription ID ENST00000377865
Start 67226624:67226624(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1817C>T
AA Mutation p.Ala606Val(p.A606V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 38
Mutation Consequence missense_variant
Transcription ID ENST00000377865
Start 66903519:66903519(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3123A>C
AA Mutation p.Glu1041Asp(p.E1041D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 39
Mutation Consequence missense_variant
Transcription ID ENST00000377865
Start 66304690:66304690(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3679G>T
AA Mutation p.Gly1227Cys(p.G1227C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 40
Mutation Consequence missense_variant
Transcription ID ENST00000377865
Start 67228125:67228125(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.316G>C
AA Mutation p.Glu106Gln(p.E106Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 41
Mutation Consequence missense_variant
Transcription ID ENST00000377865
Start 66304743:66304743(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3626G>A
AA Mutation p.Ser1209Asn(p.S1209N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 42
Mutation Consequence missense_variant
Transcription ID ENST00000377865
Start 67225932:67225932(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2509C>T
AA Mutation p.Arg837Cys(p.R837C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 43
Mutation Consequence missense_variant
Transcription ID ENST00000377865
Start 67227234:67227234(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1207A>G
AA Mutation p.Ile403Val(p.I403V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 44
Mutation Consequence synonymous_variant
Transcription ID ENST00000377865
Start 67228267:67228267(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.174C>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 45
Mutation Consequence synonymous_variant
Transcription ID ENST00000377865
Start 67227661:67227661(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.780T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 46
Mutation Consequence synonymous_variant
Transcription ID ENST00000377865
Start 67228068:67228068(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.373C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 47
Mutation Consequence synonymous_variant
Transcription ID ENST00000377865
Start 66631397:66631397(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3153T>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 48
Mutation Consequence synonymous_variant
Transcription ID ENST00000377865
Start 66631304:66631304(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3246C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 49
Mutation Consequence synonymous_variant
Transcription ID ENST00000377865
Start 67225879:67225879(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2562C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 50
Mutation Consequence synonymous_variant
Transcription ID ENST00000377865
Start 67228315:67228315(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.126C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 51
Mutation Consequence synonymous_variant
Transcription ID ENST00000377865
Start 66631244:66631244(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3306G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 52
Mutation Consequence synonymous_variant
Transcription ID ENST00000377865
Start 67226392:67226392(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2049C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 53
Mutation Consequence synonymous_variant
Transcription ID ENST00000377865
Start 66903573:66903573(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3069T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 54
Mutation Consequence synonymous_variant
Transcription ID ENST00000377865
Start 67227106:67227106(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1335G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 55
Mutation Consequence synonymous_variant
Transcription ID ENST00000377865
Start 67225948:67225948(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2493C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 56
Mutation Consequence synonymous_variant
Transcription ID ENST00000377865
Start 67227514:67227514(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.927T>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 57
Mutation Consequence synonymous_variant
Transcription ID ENST00000377865
Start 67228411:67228411(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.30T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 58
Mutation Consequence frameshift_variant
Transcription ID ENST00000377865
Start 67226701:67226701(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.1740delT
AA Mutation p.Phe580LeufsTer14(p.F580Lfs*14)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 59
Mutation Consequence frameshift_variant
Transcription ID ENST00000377865
Start 67226376:67226376(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.2065delC
AA Mutation p.Leu689SerfsTer9(p.L689Sfs*9)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 60
Mutation Consequence frameshift_variant
Transcription ID ENST00000377865
Start 67227532:67227533(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.908_909delTT
AA Mutation p.Phe303CysfsTer4(p.F303Cfs*4)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 61
Mutation Consequence stop_gained
Transcription ID ENST00000377865
Start 67226694:67226694(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1747G>T
AA Mutation p.Glu583Ter(p.E583*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 62
Mutation Consequence stop_gained
Transcription ID ENST00000377865
Start 67226844:67226844(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1597G>T
AA Mutation p.Glu533Ter(p.E533*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 63
Mutation Consequence stop_gained
Transcription ID ENST00000377865
Start 66304873:66304873(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3496G>T
AA Mutation p.Glu1166Ter(p.E1166*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 64
Mutation Consequence frameshift_variant
Transcription ID ENST00000377865
Start 67225989:67225990(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.2451dupT
AA Mutation p.Ala818CysfsTer77(p.A818Cfs*77)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript

Rectum Cancer: Gene >> PCDH9

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000377865
Start 67225855:67225855(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2586G>T
AA Mutation p.Glu862Asp(p.E862D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000377865
Start 67226262:67226262(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2179C>T
AA Mutation p.Arg727Trp(p.R727W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000377865
Start 67226616:67226616(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1825C>T
AA Mutation p.Leu609Phe(p.L609F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000377865
Start 67227375:67227375(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1066C>G
AA Mutation p.Pro356Ala(p.P356A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000377865
Start 66304684:66304684(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3685A>G
AA Mutation p.Thr1229Ala(p.T1229A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000377865
Start 67226004:67226004(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2437C>A
AA Mutation p.Leu813Ile(p.L813I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000377865
Start 66631395:66631395(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs150709677
CDS Mutation c.3155C>T
AA Mutation p.Thr1052Met(p.T1052M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000377865
Start 67227791:67227791(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.650C>A
AA Mutation p.Thr217Asn(p.T217N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000377865
Start 67226841:67226841(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1600G>A
AA Mutation p.Glu534Lys(p.E534K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000377865
Start 67227236:67227236(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1205T>G
AA Mutation p.Phe402Cys(p.F402C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000377865
Start 67225512:67225512(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2929T>C
AA Mutation p.Cys977Arg(p.C977R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000377865
Start 67226261:67226261(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2180G>A
AA Mutation p.Arg727Gln(p.R727Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence synonymous_variant
Transcription ID ENST00000377865
Start 67227511:67227511(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.930G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 14
Mutation Consequence synonymous_variant
Transcription ID ENST00000377865
Start 67227535:67227535(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.906C>A
Mutation Classification Silent
Feature Type Transcript