Colon Cancer: Gene >> USH1C

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000318024
Start	17501057:17501057(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs200428926
CDS Mutation	c.1474C>T
AA Mutation	p.Arg492Trp(p.R492W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000318024
Start	17517420:17517420(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs761005701
CDS Mutation	c.1265C>T
AA Mutation	p.Thr422Met(p.T422M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000318024
Start	17523460:17523460(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs369461618
CDS Mutation	c.778G>A
AA Mutation	p.Glu260Lys(p.E260K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000318024
Start	17527255:17527255(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.464G>A
AA Mutation	p.Arg155Gln(p.R155Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000318024
Start	17526438:17526438(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs760703501
CDS Mutation	c.583G>A
AA Mutation	p.Val195Met(p.V195M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000318024
Start	17498178:17498178(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1574C>T
AA Mutation	p.Ala525Val(p.A525V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000318024
Start	17524521:17524521(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.689C>A
AA Mutation	p.Pro230His(p.P230H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000318024
Start	17531529:17531529(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.118G>A
AA Mutation	p.Ala40Thr(p.A40T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000318024
Start	17531181:17531181(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs140869579
CDS Mutation	c.360C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000318024
Start	17531283:17531283(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.258G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000318024
Start	17526415:17526416(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.605dupC
AA Mutation	p.Gly203TrpfsTer47(p.G203Wfs*47)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	splice_acceptor_variant
Transcription ID	ENST00000318024
Start	17517476:17517476(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1211-2A>G
Mutation Classification	Splice_Site
Feature Type	Transcript

Rectum Cancer: Gene >> USH1C

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000318024
Start	17523445:17523445(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.793G>T
AA Mutation	p.Asp265Tyr(p.D265Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000318024
Start	17520967:17520967(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1113G>T
AA Mutation	p.Lys371Asn(p.K371N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000318024
Start	17531409:17531410(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.237_238delCC
AA Mutation	p.Arg80AlafsTer68(p.R80Afs*68)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript