Colon Cancer: Gene >> PMS1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000441310
Start	189854849:189854849(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1577G>A
AA Mutation	p.Cys526Tyr(p.C526Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000441310
Start	189805677:189805677(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.341C>T
AA Mutation	p.Ala114Val(p.A114V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000441310
Start	189863796:189863796(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1910G>C
AA Mutation	p.Arg637Thr(p.R637T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000441310
Start	189863987:189863987(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2101T>C
AA Mutation	p.Phe701Leu(p.F701L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000441310
Start	189867800:189867800(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2344C>A
AA Mutation	p.Leu782Ile(p.L782I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000441310
Start	189873526:189873526(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2504T>C
AA Mutation	p.Ile835Thr(p.I835T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000441310
Start	189791869:189791869(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.60G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000441310
Start	189854274:189854274(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs775595671
CDS Mutation	c.1002G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000441310
Start	189818084:189818084(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.492delA
AA Mutation	p.Lys164AsnfsTer6(p.K164Nfs*6)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000441310
Start	189854675:189854675(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.1406delA
AA Mutation	p.Asn469MetfsTer7(p.N469Mfs*7)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	stop_gained
Transcription ID	ENST00000441310
Start	189844072:189844072(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.691G>T
AA Mutation	p.Glu231Ter(p.E231*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	stop_gained
Transcription ID	ENST00000441310
Start	189854429:189854429(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1157C>A
AA Mutation	p.Ser386Ter(p.S386*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	stop_gained
Transcription ID	ENST00000441310
Start	189854792:189854792(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1520C>A
AA Mutation	p.Ser507Ter(p.S507*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Rectum Cancer: Gene >> PMS1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000441310
Start	189795841:189795841(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.205A>C
AA Mutation	p.Met69Leu(p.M69L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000441310
Start	189864109:189864109(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2223A>C
AA Mutation	p.Lys741Asn(p.K741N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript