Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> KIT

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000288135
Start	54695592:54695592(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs200950545
CDS Mutation	c.148G>A
AA Mutation	p.Val50Met(p.V50M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000288135
Start	54725970:54725970(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1460G>A
AA Mutation	p.Gly487Asp(p.G487D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000288135
Start	54726003:54726003(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1493G>A
AA Mutation	p.Gly498Asp(p.G498D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000288135
Start	54698562:54698562(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.616C>T
AA Mutation	p.Pro206Ser(p.P206S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000288135
Start	54736787:54736787(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs776681643
CDS Mutation	c.2663G>A
AA Mutation	p.Arg888Gln(p.R888Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000288135
Start	54695553:54695553(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.109C>G
AA Mutation	p.Pro37Ala(p.P37A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000288135
Start	54695590:54695590(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs376469897
CDS Mutation	c.146G>A
AA Mutation	p.Arg49His(p.R49H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000288135
Start	54698311:54698311(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.365G>A
AA Mutation	p.Arg122His(p.R122H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000288135
Start	54731927:54731927(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2290C>A
AA Mutation	p.Leu764Ile(p.L764I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000288135
Start	54699692:54699692(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.682G>A
AA Mutation	p.Glu228Lys(p.E228K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000288135
Start	54731386:54731386(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2200A>G
AA Mutation	p.Thr734Ala(p.T734A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000288135
Start	54731987:54731987(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2350G>A
AA Mutation	p.Ala784Thr(p.A784T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000288135
Start	54698551:54698551(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.605T>C
AA Mutation	p.Leu202Pro(p.L202P)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	missense_variant
Transcription ID	ENST00000288135
Start	54737180:54737180(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2702A>G
AA Mutation	p.Asp901Gly(p.D901G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	missense_variant
Transcription ID	ENST00000288135
Start	54723664:54723664(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1312A>C
AA Mutation	p.Ile438Leu(p.I438L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	missense_variant
Transcription ID	ENST00000288135
Start	54727248:54727248(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1571C>A
AA Mutation	p.Pro524His(p.P524H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	missense_variant
Transcription ID	ENST00000288135
Start	54698494:54698494(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.548G>C
AA Mutation	p.Cys183Ser(p.C183S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	18
Mutation Consequence	missense_variant
Transcription ID	ENST00000288135
Start	54699744:54699744(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs755508624
CDS Mutation	c.734C>T
AA Mutation	p.Thr245Met(p.T245M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	19
Mutation Consequence	missense_variant
Transcription ID	ENST00000288135
Start	54709518:54709518(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1210G>A
AA Mutation	p.Ala404Thr(p.A404T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	20
Mutation Consequence	missense_variant
Transcription ID	ENST00000288135
Start	54726043:54726043(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1533C>A
AA Mutation	p.Asn511Lys(p.N511K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	21
Mutation Consequence	missense_variant
Transcription ID	ENST00000288135
Start	54727420:54727420(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1652C>A
AA Mutation	p.Pro551His(p.P551H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	22
Mutation Consequence	missense_variant
Transcription ID	ENST00000288135
Start	54731392:54731392(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2206G>A
AA Mutation	p.Ala736Thr(p.A736T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	23
Mutation Consequence	missense_variant
Transcription ID	ENST00000288135
Start	54731381:54731381(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2195T>C
AA Mutation	p.Val732Ala(p.V732A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	24
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000288135
Start	54738515:54738515(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs200275681
CDS Mutation	c.2889C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	25
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000288135
Start	54695666:54695666(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs762453840
CDS Mutation	c.222G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	26
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000288135
Start	54738455:54738455(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2829C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	27
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000288135
Start	54723630:54723630(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1278C>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	28
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000288135
Start	54695720:54695720(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs373066995
CDS Mutation	c.276C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	29
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000288135
Start	54695747:54695747(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs145333060
CDS Mutation	c.303C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	30
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000288135
Start	54738494:54738494(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2868G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	31
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000288135
Start	54698441:54698441(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.498delC
AA Mutation	p.Lys167ArgfsTer5(p.K167Rfs*5)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	32
Mutation Consequence	stop_gained
Transcription ID	ENST00000288135
Start	54738462:54738462(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs139000082
CDS Mutation	c.2836C>T
AA Mutation	p.Arg946Ter(p.R946*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	33
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000288135
Start	54737274:54737275(version: GRCh38)
Mutation Type	INS
dbSNP_RS	null
CDS Mutation	c.2798dupA
AA Mutation	p.Asn933LysfsTer116(p.N933Kfs*116)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Mutation ID	34
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000288135
Start	54726041:54726042(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.1532_1533insGA
AA Mutation	p.Asn511LysfsTer17(p.N511Kfs*17)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Rectum Cancer: Gene >> KIT

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000288135
Start	54703738:54703738(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs753318751
CDS Mutation	c.771G>T
AA Mutation	p.Glu257Asp(p.E257D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000288135
Start	54695659:54695659(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.215A>C
AA Mutation	p.Asp72Ala(p.D72A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000288135
Start	54698355:54698355(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.409C>A
AA Mutation	p.Pro137Thr(p.P137T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000288135
Start	54738463:54738463(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2837G>A
AA Mutation	p.Arg946Gln(p.R946Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000288135
Start	54738493:54738493(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs139694927
CDS Mutation	c.2867G>A
AA Mutation	p.Arg956Gln(p.R956Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000288135
Start	54695666:54695666(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs762453840
CDS Mutation	c.222G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000288135
Start	54733150:54733150(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2442C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000288135
Start	54736512:54736512(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2499G>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000288135
Start	54727264:54727264(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs148248559
CDS Mutation	c.1587C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000288135
Start	54703748:54703749(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.782dupG
AA Mutation	p.Ser261ArgfsTer6(p.S261Rfs*6)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript