| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000329797 |
| Start |
105051349:105051349(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.788T>A |
| AA Mutation |
p.Leu263His(p.L263H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000329797 |
| Start |
105051697:105051697(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs376299075
|
| CDS Mutation |
c.440C>T |
| AA Mutation |
p.Ala147Val(p.A147V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000329797 |
| Start |
105051348:105051349(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.788_789insA |
| AA Mutation |
p.Val264ArgfsTer41(p.V264Rfs*41) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |