| Mutation ID |
13 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000350908 |
| Start |
114664438:114664438(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2003+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000350908 |
| Start |
114654010:114654010(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1266+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> FOXP2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000350908 |
| Start |
114652235:114652235(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1127G>A |
| AA Mutation |
p.Arg376Gln(p.R376Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000350908 |
| Start |
114662108:114662108(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1691G>A |
| AA Mutation |
p.Arg564Gln(p.R564Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000350908 |
| Start |
114629850:114629850(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.442C>T |
| AA Mutation |
p.Leu148Phe(p.L148F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000350908 |
| Start |
114659368:114659368(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1481A>G |
| AA Mutation |
p.Asn494Ser(p.N494S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000350908 |
| Start |
114659654:114659654(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1628G>A |
| AA Mutation |
p.Arg543His(p.R543H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000350908 |
| Start |
114664312:114664312(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs779157210
|
| CDS Mutation |
c.1879C>T |
| AA Mutation |
p.Pro627Ser(p.P627S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000350908 |
| Start |
114658226:114658226(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1427G>A |
| AA Mutation |
p.Arg476Gln(p.R476Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000350908 |
| Start |
114664323:114664323(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs770923990
|
| CDS Mutation |
c.1890A>G |
| AA Mutation |
p.Ile630Met(p.I630M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000350908 |
| Start |
114628578:114628578(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.297C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000350908 |
| Start |
114631551:114631551(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.621A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000350908 |
| Start |
114631639:114631639(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.709C>T |
| AA Mutation |
p.Gln237Ter(p.Q237*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|