| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000262650 |
| Start |
34457464:34457464(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1408A>G |
| AA Mutation |
p.Arg470Gly(p.R470G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000262650 |
| Start |
34457441:34457441(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs780578824
|
| CDS Mutation |
c.1385G>A |
| AA Mutation |
p.Arg462Gln(p.R462Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000262650 |
| Start |
34470047:34470047(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1548-1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |