| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000376335 |
| Start |
99982711:99982711(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.647C>A |
| AA Mutation |
p.Pro216His(p.P216H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000376335 |
| Start |
99985042:99985042(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1172A>T |
| AA Mutation |
p.Lys391Met(p.K391M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000376335 |
| Start |
99983100:99983100(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1036C>T |
| AA Mutation |
p.Arg346Cys(p.R346C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |