Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> ABCC8

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000389817
Start	17461724:17461724(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.681A>T
AA Mutation	p.Lys227Asn(p.K227N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000389817
Start	17412669:17412669(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2553C>A
AA Mutation	p.Phe851Leu(p.F851L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000389817
Start	17463536:17463536(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.481G>A
AA Mutation	p.Ala161Thr(p.A161T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000389817
Start	17404606:17404606(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs759961510
CDS Mutation	c.3463G>A
AA Mutation	p.Val1155Ile(p.V1155I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000389817
Start	17427146:17427146(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2125A>G
AA Mutation	p.Thr709Ala(p.T709A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000389817
Start	17407446:17407446(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2828T>A
AA Mutation	p.Val943Asp(p.V943D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000389817
Start	17406689:17406689(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3262A>G
AA Mutation	p.Thr1088Ala(p.T1088A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000389817
Start	17461629:17461629(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.776C>T
AA Mutation	p.Ala259Val(p.A259V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000389817
Start	17476688:17476688(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.89C>T
AA Mutation	p.Ala30Val(p.A30V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000389817
Start	17406938:17406938(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs367974472
CDS Mutation	c.3112G>A
AA Mutation	p.Asp1038Asn(p.D1038N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000389817
Start	17395243:17395243(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4340A>C
AA Mutation	p.Asp1447Ala(p.D1447A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000389817
Start	17395908:17395908(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs769926016
CDS Mutation	c.4142G>A
AA Mutation	p.Gly1381Asp(p.G1381D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000389817
Start	17404530:17404530(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3539A>G
AA Mutation	p.Tyr1180Cys(p.Y1180C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	missense_variant
Transcription ID	ENST00000389817
Start	17448578:17448578(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs577545383
CDS Mutation	c.1270G>A
AA Mutation	p.Asp424Asn(p.D424N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	missense_variant
Transcription ID	ENST00000389817
Start	17461758:17461758(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs199702708
CDS Mutation	c.647G>A
AA Mutation	p.Arg216His(p.R216H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	missense_variant
Transcription ID	ENST00000389817
Start	17460502:17460502(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs776764243
CDS Mutation	c.997G>A
AA Mutation	p.Val333Ile(p.V333I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	missense_variant
Transcription ID	ENST00000389817
Start	17398410:17398410(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs758995284
CDS Mutation	c.3682G>A
AA Mutation	p.Glu1228Lys(p.E1228K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	18
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000389817
Start	17404619:17404619(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3450C>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	19
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000389817
Start	17461655:17461655(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs566527939
CDS Mutation	c.750C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	20
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000389817
Start	17395215:17395215(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs193922403
CDS Mutation	c.4368C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	21
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000389817
Start	17430864:17430864(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs550788491
CDS Mutation	c.1767G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	22
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000389817
Start	17396985:17396985(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs753002396
CDS Mutation	c.4050C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	23
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000389817
Start	17396958:17396958(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs547430068
CDS Mutation	c.4077G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	24
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000389817
Start	17448597:17448597(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1251C>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	25
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000389817
Start	17474927:17474927(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.249C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	26
Mutation Consequence	stop_gained
Transcription ID	ENST00000389817
Start	17393125:17393125(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4612C>T
AA Mutation	p.Arg1538Ter(p.R1538*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	27
Mutation Consequence	stop_gained
Transcription ID	ENST00000389817
Start	17460542:17460542(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.957C>A
AA Mutation	p.Cys319Ter(p.C319*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	28
Mutation Consequence	stop_gained
Transcription ID	ENST00000389817
Start	17412716:17412716(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs72559722
CDS Mutation	c.2506C>T
AA Mutation	p.Arg836Ter(p.R836*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	29
Mutation Consequence	splice_donor_variant
Transcription ID	ENST00000389817
Start	17393695:17393695(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4608+2T>C
Mutation Classification	Splice_Site
Feature Type	Transcript

Rectum Cancer: Gene >> ABCC8

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000389817
Start	17470215:17470215(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs200687571
CDS Mutation	c.298G>A
AA Mutation	p.Glu100Lys(p.E100K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000389817
Start	17413461:17413461(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2408A>C
AA Mutation	p.Glu803Ala(p.E803A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000389817
Start	17404645:17404645(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3424C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000389817
Start	17394380:17394380(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs145673861
CDS Mutation	c.4431C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000389817
Start	17393724:17393724(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs773042150
CDS Mutation	c.4581C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000389817
Start	17414547:17414547(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2355G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	stop_gained
Transcription ID	ENST00000389817
Start	17408415:17408415(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs570388861
CDS Mutation	c.2797C>T
AA Mutation	p.Arg933Ter(p.R933*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	stop_gained
Transcription ID	ENST00000389817
Start	17404529:17404529(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3540C>A
AA Mutation	p.Tyr1180Ter(p.Y1180*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	splice_donor_variant
Transcription ID	ENST00000389817
Start	17395851:17395851(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4198+1G>A
Mutation Classification	Splice_Site
Feature Type	Transcript