| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000300226 |
| Start |
60703430:60703430(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs572019233
|
| CDS Mutation |
c.272C>T |
| AA Mutation |
p.Ala91Val(p.A91V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000300226 |
| Start |
60708769:60708769(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs767555360
|
| CDS Mutation |
c.522C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000300226 |
| Start |
60708774:60708774(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.530delG |
| AA Mutation |
p.Gly177ValfsTer2(p.G177Vfs*2) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |