| Mutation ID |
8 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000216124 |
| Start |
50627213:50627213(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
rs768611488
|
| CDS Mutation |
c.418delC |
| AA Mutation |
p.His140IlefsTer8(p.H140Ifs*8) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000216124 |
| Start |
50627329:50627329(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
rs774206541
|
| CDS Mutation |
c.302delG |
| AA Mutation |
p.Gly101AlafsTer7(p.G101Afs*7) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ARSA
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000216124 |
| Start |
50626863:50626863(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.655C>T |
| AA Mutation |
p.Arg219Cys(p.R219C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000216124 |
| Start |
50626172:50626172(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.961C>T |
| AA Mutation |
p.Pro321Ser(p.P321S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000216124 |
| Start |
50627573:50627573(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.207T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|