| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000410023 |
| Start |
102172709:102172709(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.862A>G |
| AA Mutation |
p.Arg288Gly(p.R288G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000410023 |
| Start |
102176435:102176435(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1386C>G |
| AA Mutation |
p.Ser462Arg(p.S462R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000410023 |
| Start |
102174585:102174585(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.992-2A>G |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |