Colon Cancer: Gene >> HPS1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000325103
Start	98429624:98429624(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.886C>T
AA Mutation	p.Leu296Phe(p.L296F)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000325103
Start	98418208:98418208(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1907T>A
AA Mutation	p.Val636Glu(p.V636E)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000325103
Start	98422388:98422388(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1724C>T
AA Mutation	p.Ala575Val(p.A575V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000325103
Start	98418215:98418215(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1900G>A
AA Mutation	p.Asp634Asn(p.D634N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000325103
Start	98425590:98425590(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs201728087
CDS Mutation	c.1286G>A
AA Mutation	p.Arg429His(p.R429H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000325103
Start	98435291:98435291(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs371321032
CDS Mutation	c.379G>A
AA Mutation	p.Gly127Ser(p.G127S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000325103
Start	98434071:98434071(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.419C>T
AA Mutation	p.Ala140Val(p.A140V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000325103
Start	98443232:98443232(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs750909242
CDS Mutation	c.9C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000325103
Start	98431229:98431229(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.570C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000325103
Start	98435292:98435292(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs765692546
CDS Mutation	c.378C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000325103
Start	98427230:98427231(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.971_972delCC
AA Mutation	p.Pro324HisfsTer128(p.P324Hfs*128)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000325103
Start	98427230:98427230(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	rs281865082
CDS Mutation	c.972delC
AA Mutation	p.Met325TrpfsTer6(p.M325Wfs*6)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000325103
Start	98427229:98427230(version: GRCh38)
Mutation Type	INS
dbSNP_RS	rs281865083
CDS Mutation	c.972dupC
AA Mutation	p.Met325HisfsTer128(p.M325Hfs*128)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Rectum Cancer: Gene >> HPS1

No Mutation Annotation!