Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> PPL

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000345988
Start	4885719:4885719(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs201057595
CDS Mutation	c.2936G>A
AA Mutation	p.Arg979His(p.R979H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000345988
Start	4883706:4883706(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs147332048
CDS Mutation	c.4949G>A
AA Mutation	p.Arg1650Gln(p.R1650Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000345988
Start	4885531:4885531(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3124G>A
AA Mutation	p.Ala1042Thr(p.A1042T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000345988
Start	4884853:4884853(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3802G>A
AA Mutation	p.Glu1268Lys(p.E1268K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000345988
Start	4884391:4884391(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs374149717
CDS Mutation	c.4264C>T
AA Mutation	p.Arg1422Trp(p.R1422W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000345988
Start	4899369:4899369(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs191156842
CDS Mutation	c.622C>T
AA Mutation	p.Arg208Trp(p.R208W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000345988
Start	4893574:4893574(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs563190051
CDS Mutation	c.1459C>T
AA Mutation	p.Arg487Trp(p.R487W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000345988
Start	4885980:4885980(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs746717177
CDS Mutation	c.2675C>T
AA Mutation	p.Ala892Val(p.A892V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000345988
Start	4883500:4883500(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.5155T>C
AA Mutation	p.Phe1719Leu(p.F1719L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000345988
Start	4937033:4937033(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.13T>A
AA Mutation	p.Phe5Ile(p.F5I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000345988
Start	4889003:4889003(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs758577607
CDS Mutation	c.2372C>T
AA Mutation	p.Ser791Phe(p.S791F)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000345988
Start	4885346:4885346(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3309G>T
AA Mutation	p.Lys1103Asn(p.K1103N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000345988
Start	4893350:4893350(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs199958643
CDS Mutation	c.1513C>T
AA Mutation	p.Arg505Trp(p.R505W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	missense_variant
Transcription ID	ENST00000345988
Start	4893235:4893235(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1628C>T
AA Mutation	p.Ala543Val(p.A543V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000345988
Start	4885679:4885679(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs568677812
CDS Mutation	c.2976C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000345988
Start	4885088:4885088(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3567G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000345988
Start	4890826:4890826(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2064C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	18
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000345988
Start	4890286:4890286(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs146862092
CDS Mutation	c.2211C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	19
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000345988
Start	4903942:4903942(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs200847749
CDS Mutation	c.261G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	20
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000345988
Start	4899349:4899349(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs142998039
CDS Mutation	c.642G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	21
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000345988
Start	4884728:4884728(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs148912216
CDS Mutation	c.3927G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	22
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000345988
Start	4885829:4885829(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs367912925
CDS Mutation	c.2826G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	23
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000345988
Start	4903962:4903962(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs746123292
CDS Mutation	c.241C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	24
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000345988
Start	4899076:4899076(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.813C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	25
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000345988
Start	4884344:4884344(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4311C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	26
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000345988
Start	4890235:4890235(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2262C>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	27
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000345988
Start	4894547:4894547(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1314C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	28
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000345988
Start	4884449:4884449(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4206G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	29
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000345988
Start	4894499:4894499(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	rs779128891
CDS Mutation	c.1362delC
AA Mutation	p.Thr455GlnfsTer37(p.T455Qfs*37)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	30
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000345988
Start	4885688:4885688(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.2967delG
AA Mutation	p.Gln990ArgfsTer31(p.Q990Rfs*31)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	31
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000345988
Start	4884058:4884068(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.4587_4597delCAAGCGCGAGC
AA Mutation	p.Lys1530GlyfsTer18(p.K1530Gfs*18)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	32
Mutation Consequence	stop_gained
Transcription ID	ENST00000345988
Start	4884991:4884991(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs766474309
CDS Mutation	c.3664C>T
AA Mutation	p.Arg1222Ter(p.R1222*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	33
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000345988
Start	4894498:4894499(version: GRCh38)
Mutation Type	INS
dbSNP_RS	rs753902804
CDS Mutation	c.1362dupC
AA Mutation	p.Thr455HisfsTer4(p.T455Hfs*4)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Mutation ID	34
Mutation Consequence	inframe_deletion;splice_region_variant
Transcription ID	ENST00000345988
Start	4890184:4890186(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	rs772519097
CDS Mutation	c.2311_2313delAAG
AA Mutation	p.Lys771del(p.K771del)
Mutation Classification	In_Frame_Del
Feature Type	Transcript

Rectum Cancer: Gene >> PPL

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000345988
Start	4902492:4902492(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.352C>A
AA Mutation	p.Arg118Ser(p.R118S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000345988
Start	4902494:4902494(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.350T>A
AA Mutation	p.Leu117Gln(p.L117Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000345988
Start	4883796:4883796(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4859A>C
AA Mutation	p.Asp1620Ala(p.D1620A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000345988
Start	4894499:4894499(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	rs779128891
CDS Mutation	c.1362delC
AA Mutation	p.Thr455GlnfsTer37(p.T455Qfs*37)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript