| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000326172 |
| Start |
101855425:101855425(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1621C>A |
| AA Mutation |
p.Gln541Lys(p.Q541K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000326172 |
| Start |
101852121:101852121(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.326G>A |
| AA Mutation |
p.Gly109Asp(p.G109D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000326172 |
| Start |
101857136:101857136(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1888delC |
| AA Mutation |
p.Arg630AlafsTer13(p.R630Afs*13) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |