| ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000344626 |
| Start |
11033318:11033318(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3575G>A |
| AA Mutation |
p.Arg1192His(p.R1192H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
9 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000344626 |
| Start |
11033317:11033317(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3574C>T |
| AA Mutation |
p.Arg1192Cys(p.R1192C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
10 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000344626 |
| Start |
10986187:10986187(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.356-2A>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |