| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000371621 |
| Start |
50579268:50579268(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.803G>T |
| AA Mutation |
p.Arg268Leu(p.R268L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000371621 |
| Start |
50581443:50581443(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs367996563
|
| CDS Mutation |
c.1267G>A |
| AA Mutation |
p.Ala423Thr(p.A423T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000371621 |
| Start |
50581301:50581301(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1130delG |
| AA Mutation |
p.Gly377GlufsTer27(p.G377Efs*27) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |