| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000375608 |
| Start |
113024650:113024650(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs752463628
|
| CDS Mutation |
c.260G>A |
| AA Mutation |
p.Arg87Gln(p.R87Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000375608 |
| Start |
113086182:113086182(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2396G>T |
| AA Mutation |
p.Ser799Ile(p.S799I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000375608 |
| Start |
113087726:113087726(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs770639443
|
| CDS Mutation |
c.2705C>T |
| AA Mutation |
p.Thr902Met(p.T902M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |