| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000389484 |
| Start |
141055252:141055252(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1416C>G |
| AA Mutation |
p.Ser472Arg(p.S472R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000389484 |
| Start |
140903040:140903040(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3646G>C |
| AA Mutation |
p.Asp1216His(p.D1216H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000389484 |
| Start |
140516910:140516910(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.8128G>T |
| AA Mutation |
p.Gly2710Ter(p.G2710*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |