| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000375537 |
| Start |
31883925:31883925(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs146726232
|
| CDS Mutation |
c.2797G>A |
| AA Mutation |
p.Val933Met(p.V933M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000375537 |
| Start |
31888197:31888197(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1589delT |
| AA Mutation |
p.Met530ArgfsTer17(p.M530Rfs*17) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000375537 |
| Start |
31892736:31892736(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.668-2A>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |