| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000339464 |
| Start |
45949986:45949986(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.232C>T |
| AA Mutation |
p.Arg78Cys(p.R78C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000339464 |
| Start |
45931264:45931264(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.404G>A |
| AA Mutation |
p.Arg135His(p.R135H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000339464 |
| Start |
45931269:45931269(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs368229070
|
| CDS Mutation |
c.399C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |