| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000341074 |
| Start |
63640909:63640909(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.434A>G |
| AA Mutation |
p.Lys145Arg(p.K145R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000341074 |
| Start |
63643519:63643519(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.59G>C |
| AA Mutation |
p.Arg20Thr(p.R20T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000341074 |
| Start |
63637913:63637913(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.979A>T |
| AA Mutation |
p.Lys327Ter(p.K327*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |