| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000315475 |
| Start |
179079423:179079423(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs149169026
|
| CDS Mutation |
c.991G>A |
| AA Mutation |
p.Gly331Ser(p.G331S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000315475 |
| Start |
179078851:179078851(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.419A>C |
| AA Mutation |
p.Lys140Thr(p.K140T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000315475 |
| Start |
179079867:179079867(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1435C>T |
| AA Mutation |
p.Gln479Ter(p.Q479*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |