| Mutation ID |
15 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000221538 |
| Start |
45800468:45800468(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
rs765702412
|
| CDS Mutation |
c.1894delG |
| AA Mutation |
p.Ala632ProfsTer47(p.A632Pfs*47) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
16 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000221538 |
| Start |
45814752:45814752(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.425delC |
| AA Mutation |
p.Pro142GlnfsTer26(p.P142Qfs*26) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> RSPH6A
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000221538 |
| Start |
45795883:45795883(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2140G>A |
| AA Mutation |
p.Glu714Lys(p.E714K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000221538 |
| Start |
45802196:45802196(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1722G>T |
| AA Mutation |
p.Glu574Asp(p.E574D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|