| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000251127 |
| Start |
101057951:101057951(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs143587652
|
| CDS Mutation |
c.5011C>T |
| AA Mutation |
p.Arg1671Cys(p.R1671C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000251127 |
| Start |
101124677:101124677(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs756720709
|
| CDS Mutation |
c.2123G>A |
| AA Mutation |
p.Arg708His(p.R708H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000251127 |
| Start |
101083753:101083753(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs751434431
|
| CDS Mutation |
c.3541C>T |
| AA Mutation |
p.Arg1181Ter(p.R1181*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |