Mutation

Primary Site >> Liver Cancer

Gene >> CSMD1

ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	3387501:3387501(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2778C>A
AA Mutation	p.Ser926Arg(p.S926R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	2
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000520002
Start	3343450:3343450(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3478G>T
AA Mutation	p.Val1160Leu(p.V1160L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	3118558:3118558(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.6274C>A
AA Mutation	p.Pro2092Thr(p.P2092T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	2965805:2965805(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.9253A>T
AA Mutation	p.Arg3085Trp(p.R3085W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	3087129:3087129(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.7445A>T
AA Mutation	p.Tyr2482Phe(p.Y2482F)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	6
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000520002
Start	3106639:3106639(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.6841G>T
AA Mutation	p.Asp2281Tyr(p.D2281Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	3118555:3118555(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.6277C>T
AA Mutation	p.Pro2093Ser(p.P2093S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	3409456:3409456(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1714A>T
AA Mutation	p.Asn572Tyr(p.N572Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	3284251:3284251(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4049G>A
AA Mutation	p.Ser1350Asn(p.S1350N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	4032060:4032060(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.455T>A
AA Mutation	p.Leu152Gln(p.L152Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	3157963:3157963(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.5851C>T
AA Mutation	p.Arg1951Cys(p.R1951C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	3359229:3359229(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs748686121
CDS Mutation	c.3230G>A
AA Mutation	p.Arg1077His(p.R1077H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	2949380:2949380(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.10324T>A
AA Mutation	p.Ser3442Thr(p.S3442T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	14
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	3189006:3189006(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.5407T>C
AA Mutation	p.Cys1803Arg(p.C1803R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	15
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	3205573:3205573(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4918C>A
AA Mutation	p.Pro1640Thr(p.P1640T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	16
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	2955732:2955732(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.9854C>G
AA Mutation	p.Ala3285Gly(p.A3285G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	17
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	3091614:3091614(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.7190C>T
AA Mutation	p.Thr2397Ile(p.T2397I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	18
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	3214655:3214655(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4712T>C
AA Mutation	p.Ile1571Thr(p.I1571T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	19
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	3308323:3308323(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3815C>A
AA Mutation	p.Pro1272His(p.P1272H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	20
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000520002
Start	3189952:3189952(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs34443453
CDS Mutation	c.5361C>T
Mutation Classification	Silent
Feature Type	Transcript

ID	21
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000520002
Start	3586179:3586179(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs770764898
CDS Mutation	c.1182A>G
Mutation Classification	Silent
Feature Type	Transcript

ID	22
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000520002
Start	3409493:3409493(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1677G>A
Mutation Classification	Silent
Feature Type	Transcript

ID	23
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000520002
Start	3188896:3188896(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.5517G>T
Mutation Classification	Silent
Feature Type	Transcript

ID	24
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000520002
Start	3359293:3359293(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3166C>A
Mutation Classification	Silent
Feature Type	Transcript

ID	25
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000520002
Start	3230122:3230122(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4266T>C
Mutation Classification	Silent
Feature Type	Transcript

ID	26
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000520002
Start	3468818:3468818(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1458G>T
Mutation Classification	Silent
Feature Type	Transcript

ID	27
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000520002
Start	3223842:3223842(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4374C>A
Mutation Classification	Silent
Feature Type	Transcript

ID	28
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000520002
Start	3018598:3018598(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs374916113
CDS Mutation	c.7911G>A
Mutation Classification	Silent
Feature Type	Transcript

ID	29
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000520002
Start	3308369:3308369(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3769C>T
Mutation Classification	Silent
Feature Type	Transcript

ID	30
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000520002
Start	3367138:3367138(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3012G>T
Mutation Classification	Silent
Feature Type	Transcript

ID	31
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000520002
Start	3708445:3708445(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.978delC
AA Mutation	p.Ser327AlafsTer11(p.S327Afs*11)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	32
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000520002
Start	3230193:3230193(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.4195delC
AA Mutation	p.Gln1399LysfsTer37(p.Q1399Kfs*37)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	33
Mutation Consequence	stop_gained
Transcription ID	ENST00000520002
Start	2965913:2965913(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.9145C>T
AA Mutation	p.Gln3049Ter(p.Q3049*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

ID	34
Mutation Consequence	stop_gained
Transcription ID	ENST00000520002
Start	2942502:2942502(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.10508C>A
AA Mutation	p.Ser3503Ter(p.S3503*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

ID	35
Mutation Consequence	splice_donor_variant
Transcription ID	ENST00000520002
Start	2942470:2942470(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.10538+2T>G
Mutation Classification	Splice_Site
Feature Type	Transcript