Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> MITF

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000448226
Start	69879378:69879378(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.349C>A
AA Mutation	p.Leu117Ile(p.L117I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000448226
Start	69937942:69937942(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.475C>T
AA Mutation	p.Pro159Ser(p.P159S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000448226
Start	69941302:69941302(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.733A>T
AA Mutation	p.Met245Leu(p.M245L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000448226
Start	69959311:69959311(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1070C>T
AA Mutation	p.Ser357Phe(p.S357F)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000448226
Start	69879141:69879141(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.112G>A
AA Mutation	p.Ala38Thr(p.A38T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000448226
Start	69965129:69965129(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs753927745
CDS Mutation	c.1462G>A
AA Mutation	p.Asp488Asn(p.D488N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000448226
Start	69965183:69965183(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs531830542
CDS Mutation	c.1516G>A
AA Mutation	p.Gly506Arg(p.G506R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000448226
Start	69937996:69937996(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs760770591
CDS Mutation	c.529G>A
AA Mutation	p.Ala177Thr(p.A177T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000448226
Start	69937957:69937957(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.490C>T
AA Mutation	p.Pro164Ser(p.P164S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000448226
Start	69959378:69959378(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1137G>T
AA Mutation	p.Lys379Asn(p.K379N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000448226
Start	69879364:69879364(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.335T>C
AA Mutation	p.Val112Ala(p.V112A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000448226
Start	69879377:69879377(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.348C>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000448226
Start	69965146:69965146(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs748817904
CDS Mutation	c.1479C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000448226
Start	69965020:69965020(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs774944729
CDS Mutation	c.1353G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000448226
Start	69959390:69959390(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs748181332
CDS Mutation	c.1149C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000448226
Start	69937836:69937836(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs373819498
CDS Mutation	c.369C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	stop_gained
Transcription ID	ENST00000448226
Start	69939164:69939164(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.649C>T
AA Mutation	p.Arg217Ter(p.R217*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	18
Mutation Consequence	stop_gained
Transcription ID	ENST00000448226
Start	69959358:69959358(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1117G>T
AA Mutation	p.Glu373Ter(p.E373*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Rectum Cancer: Gene >> MITF

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000448226
Start	69938030:69938030(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.563A>C
AA Mutation	p.Asn188Thr(p.N188T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000448226
Start	69965205:69965205(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1538G>A
AA Mutation	p.Arg513Gln(p.R513Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000448226
Start	69939109:69939109(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.594G>C
AA Mutation	p.Lys198Asn(p.K198N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000448226
Start	69938024:69938024(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.557C>T
AA Mutation	p.Thr186Met(p.T186M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000448226
Start	69959274:69959274(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1033G>T
AA Mutation	p.Asp345Tyr(p.D345Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript