Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> ABCA3

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000301732
Start	2276693:2276693(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.5096C>T
AA Mutation	p.Thr1699Ile(p.T1699I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000301732
Start	2286944:2286944(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3028T>C
AA Mutation	p.Phe1010Leu(p.F1010L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000301732
Start	2317760:2317760(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.878A>G
AA Mutation	p.Tyr293Cys(p.Y293C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000301732
Start	2295654:2295654(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs766775847
CDS Mutation	c.2350G>A
AA Mutation	p.Ala784Thr(p.A784T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000301732
Start	2308522:2308522(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1213C>A
AA Mutation	p.Leu405Ile(p.L405I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000301732
Start	2279024:2279024(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs557707047
CDS Mutation	c.4466G>A
AA Mutation	p.Arg1489His(p.R1489H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000301732
Start	2286860:2286860(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs34994813
CDS Mutation	c.3112G>A
AA Mutation	p.Val1038Ile(p.V1038I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000301732
Start	2288281:2288281(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs746588103
CDS Mutation	c.2749G>A
AA Mutation	p.Ala917Thr(p.A917T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000301732
Start	2279117:2279117(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4373T>C
AA Mutation	p.Ile1458Thr(p.I1458T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000301732
Start	2281032:2281032(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs375783245
CDS Mutation	c.4354G>A
AA Mutation	p.Gly1452Arg(p.G1452R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000301732
Start	2289561:2289561(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2573A>G
AA Mutation	p.Gln858Arg(p.Q858R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000301732
Start	2317375:2317375(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs775752104
CDS Mutation	c.1019G>A
AA Mutation	p.Arg340His(p.R340H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000301732
Start	2324438:2324438(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.413C>T
AA Mutation	p.Pro138Leu(p.P138L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	missense_variant
Transcription ID	ENST00000301732
Start	2281172:2281172(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs149559041
CDS Mutation	c.4214C>T
AA Mutation	p.Ala1405Val(p.A1405V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000301732
Start	2324529:2324529(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.322C>T
AA Mutation	p.Arg108Cys(p.R108C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	missense_variant
Transcription ID	ENST00000301732
Start	2285606:2285606(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs140114428
CDS Mutation	c.3319G>A
AA Mutation	p.Ala1107Thr(p.A1107T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000301732
Start	2297766:2297766(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2052G>T
AA Mutation	p.Lys684Asn(p.K684N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	18
Mutation Consequence	missense_variant
Transcription ID	ENST00000301732
Start	2295596:2295596(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs748819386
CDS Mutation	c.2408C>T
AA Mutation	p.Thr803Met(p.T803M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	19
Mutation Consequence	missense_variant
Transcription ID	ENST00000301732
Start	2317376:2317376(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs760874963
CDS Mutation	c.1018C>T
AA Mutation	p.Arg340Cys(p.R340C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	20
Mutation Consequence	missense_variant
Transcription ID	ENST00000301732
Start	2281061:2281061(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4325T>C
AA Mutation	p.Val1442Ala(p.V1442A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	21
Mutation Consequence	missense_variant
Transcription ID	ENST00000301732
Start	2297417:2297417(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2175G>T
AA Mutation	p.Glu725Asp(p.E725D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	22
Mutation Consequence	missense_variant
Transcription ID	ENST00000301732
Start	2298432:2298432(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1850T>G
AA Mutation	p.Leu617Arg(p.L617R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	23
Mutation Consequence	missense_variant
Transcription ID	ENST00000301732
Start	2292187:2292187(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2466T>G
AA Mutation	p.Ile822Met(p.I822M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	24
Mutation Consequence	missense_variant
Transcription ID	ENST00000301732
Start	2324484:2324484(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs145087575
CDS Mutation	c.367G>A
AA Mutation	p.Asp123Asn(p.D123N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	25
Mutation Consequence	missense_variant
Transcription ID	ENST00000301732
Start	2276691:2276691(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs745625493
CDS Mutation	c.5098G>A
AA Mutation	p.Ala1700Thr(p.A1700T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	26
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000301732
Start	2299440:2299440(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs763684989
CDS Mutation	c.1704C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	27
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000301732
Start	2284935:2284935(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3547C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	28
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000301732
Start	2323638:2323638(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.498C>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	29
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000301732
Start	2319737:2319737(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.717G>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	30
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000301732
Start	2286876:2286876(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3096G>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	31
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000301732
Start	2326146:2326146(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.183C>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	32
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000301732
Start	2297793:2297793(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2025C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	33
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000301732
Start	2276737:2276737(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs370065784
CDS Mutation	c.5052G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	34
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000301732
Start	2300119:2300119(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs368865276
CDS Mutation	c.1497G>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	35
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000301732
Start	2298449:2298449(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1833C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	36
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000301732
Start	2288036:2288036(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs748766458
CDS Mutation	c.2994C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	37
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000301732
Start	2284978:2284978(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs141725577
CDS Mutation	c.3504C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	38
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000301732
Start	2286921:2286921(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs752700686
CDS Mutation	c.3051C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	39
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000301732
Start	2283220:2283220(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.4001delG
AA Mutation	p.Gly1334AlafsTer12(p.G1334Afs*12)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	40
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000301732
Start	2297357:2297357(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.2235delG
AA Mutation	p.Ser746ProfsTer15(p.S746Pfs*15)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	41
Mutation Consequence	frameshift_variant;splice_region_variant
Transcription ID	ENST00000301732
Start	2297539:2297539(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.2053delG
AA Mutation	p.Val685CysfsTer2(p.V685Cfs*2)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Rectum Cancer: Gene >> ABCA3

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000301732
Start	2284788:2284788(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3694C>T
AA Mutation	p.Arg1232Cys(p.R1232C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000301732
Start	2319795:2319795(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.659G>T
AA Mutation	p.Arg220Leu(p.R220L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000301732
Start	2308455:2308455(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs772668103
CDS Mutation	c.1280C>T
AA Mutation	p.Ala427Val(p.A427V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000301732
Start	2297787:2297787(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs199835654
CDS Mutation	c.2031C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000301732
Start	2286750:2286750(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3222C>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000301732
Start	2319686:2319686(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs138445429
CDS Mutation	c.768C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	splice_acceptor_variant
Transcription ID	ENST00000301732
Start	2279131:2279131(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4360-1G>T
Mutation Classification	Splice_Site
Feature Type	Transcript