| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000262189 |
| Start |
152238786:152238786(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs111493987
|
| CDS Mutation |
c.2573G>T |
| AA Mutation |
p.Trp858Leu(p.W858L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000262189 |
| Start |
152248582:152248583(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1851dupA |
| AA Mutation |
p.Gln618ThrfsTer4(p.Q618Tfs*4) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000262189 |
| Start |
152194129:152194129(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4541-1G>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |