| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000375497 |
| Start |
162144132:162144132(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs757350391
|
| CDS Mutation |
c.431G>A |
| AA Mutation |
p.Arg144His(p.R144H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000375497 |
| Start |
162145660:162145660(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs35920035
|
| CDS Mutation |
c.272G>A |
| AA Mutation |
p.Arg91His(p.R91H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000375497 |
| Start |
162147361:162147361(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.246G>C |
| AA Mutation |
p.Lys82Asn(p.K82N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |