| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000308108 |
| Start |
94888060:94888060(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.467A>G |
| AA Mutation |
p.Tyr156Cys(p.Y156C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000308108 |
| Start |
94893921:94893921(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.135G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000308108 |
| Start |
94892940:94892940(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.195delG |
| AA Mutation |
p.Ile66SerfsTer14(p.I66Sfs*14) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |