| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000336985 |
| Start |
44736786:44736786(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs756128125
|
| CDS Mutation |
c.706C>T |
| AA Mutation |
p.Arg236Cys(p.R236C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000336985 |
| Start |
44735088:44735088(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.617A>G |
| AA Mutation |
p.Lys206Arg(p.K206R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000336985 |
| Start |
44714590:44714590(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs749735547
|
| CDS Mutation |
c.135-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |