| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000380702 |
| Start |
10461660:10461660(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1600C>T |
| AA Mutation |
p.Arg534Cys(p.R534C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000380702 |
| Start |
10449096:10449096(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs184667824
|
| CDS Mutation |
c.566G>A |
| AA Mutation |
p.Arg189Gln(p.R189Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000380702 |
| Start |
10467595:10467595(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2640delG |
| AA Mutation |
p.Ser881GlnfsTer92(p.S881Qfs*92) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |