| Mutation ID |
14 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000361941 |
| Start |
95337021:95337021(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs555941537
|
| CDS Mutation |
c.3139C>T |
| AA Mutation |
p.Arg1047Ter(p.R1047*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
15 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000361941 |
| Start |
95341412:95341412(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2545-2A>G |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> SORBS1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000361941 |
| Start |
95341634:95341634(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2474A>C |
| AA Mutation |
p.Gln825Pro(p.Q825P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000361941 |
| Start |
95384081:95384081(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs749801396
|
| CDS Mutation |
c.1442G>C |
| AA Mutation |
p.Ser481Thr(p.S481T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000361941 |
| Start |
95351354:95351354(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs202075782
|
| CDS Mutation |
c.2237G>A |
| AA Mutation |
p.Arg746Gln(p.R746Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000361941 |
| Start |
95354904:95354904(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs370866519
|
| CDS Mutation |
c.2192G>A |
| AA Mutation |
p.Arg731Gln(p.R731Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000361941 |
| Start |
95376053:95376053(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs143262691
|
| CDS Mutation |
c.1657C>T |
| AA Mutation |
p.Arg553Trp(p.R553W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000361941 |
| Start |
95318416:95318416(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3715T>G |
| AA Mutation |
p.Leu1239Val(p.L1239V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000361941 |
| Start |
95357795:95357795(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1964C>A |
| AA Mutation |
p.Ser655Tyr(p.S655Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|