| Mutation ID |
11 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000291536 |
| Start |
42493066:42493066(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.68delG |
| AA Mutation |
p.Gly23ValfsTer120(p.G23Vfs*120) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000291536 |
| Start |
42496169:42496170(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.17_18insA |
| AA Mutation |
p.Glu7GlyfsTer10(p.E7Gfs*10) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> RSPH1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000291536 |
| Start |
42485695:42485695(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.475T>C |
| AA Mutation |
p.Tyr159His(p.Y159H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000291536 |
| Start |
42492976:42492976(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.158G>T |
| AA Mutation |
p.Arg53Ile(p.R53I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|