| Mutation ID |
28 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000332839 |
| Start |
40428621:40428622(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1659dupT |
| AA Mutation |
p.Gly554TrpfsTer22(p.G554Wfs*22) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
29 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000332839 |
| Start |
40115631:40115631(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2546-2A>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> SLC8A1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000332839 |
| Start |
40429329:40429329(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.952G>T |
| AA Mutation |
p.Asp318Tyr(p.D318Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000332839 |
| Start |
40175266:40175266(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1931A>T |
| AA Mutation |
p.Glu644Val(p.E644V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000332839 |
| Start |
40429372:40429372(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.909C>A |
| AA Mutation |
p.Phe303Leu(p.F303L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000332839 |
| Start |
40428568:40428568(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs774752331
|
| CDS Mutation |
c.1713C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000332839 |
| Start |
40139624:40139624(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs770499303
|
| CDS Mutation |
c.2322C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|