| Mutation ID |
33 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000275034 |
| Start |
78955684:78955684(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3783-2A>G |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
34 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000275034 |
| Start |
78978713:78978713(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2770-2A>G |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PHIP
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000275034 |
| Start |
78954918:78954918(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs747145278
|
| CDS Mutation |
c.3949G>A |
| AA Mutation |
p.Asp1317Asn(p.D1317N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000275034 |
| Start |
78958550:78958550(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs200576047
|
| CDS Mutation |
c.3707G>A |
| AA Mutation |
p.Arg1236Gln(p.R1236Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000275034 |
| Start |
79001959:79001959(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1819C>T |
| AA Mutation |
p.Pro607Ser(p.P607S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000275034 |
| Start |
79016592:79016592(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1187G>A |
| AA Mutation |
p.Arg396Gln(p.R396Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000275034 |
| Start |
78983070:78983070(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2585A>G |
| AA Mutation |
p.Asn862Ser(p.N862S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000275034 |
| Start |
78941046:78941046(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.5113T>G |
| AA Mutation |
p.Leu1705Val(p.L1705V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000275034 |
| Start |
78954939:78954939(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs369513920
|
| CDS Mutation |
c.3928C>T |
| AA Mutation |
p.Arg1310Cys(p.R1310C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000275034 |
| Start |
79016626:79016626(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1153C>T |
| AA Mutation |
p.Arg385Cys(p.R385C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000275034 |
| Start |
78947748:78947748(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4081A>G |
| AA Mutation |
p.Met1361Val(p.M1361V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000275034 |
| Start |
78946047:78946047(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4584G>T |
| AA Mutation |
p.Lys1528Asn(p.K1528N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000275034 |
| Start |
79019103:79019103(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.980C>A |
| AA Mutation |
p.Ser327Tyr(p.S327Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000275034 |
| Start |
79015098:79015098(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1508G>A |
| AA Mutation |
p.Arg503Gln(p.R503Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000275034 |
| Start |
79016553:79016553(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs753677561
|
| CDS Mutation |
c.1226G>A |
| AA Mutation |
p.Arg409His(p.R409H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000275034 |
| Start |
78970829:78970829(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2949A>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
15 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000275034 |
| Start |
78970853:78970853(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs140757402
|
| CDS Mutation |
c.2925C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|