| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000229854 |
| Start |
52276320:52276320(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs748488798
|
| CDS Mutation |
c.1322G>A |
| AA Mutation |
p.Arg441Gln(p.R441Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000229854 |
| Start |
52282774:52282774(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.279G>T |
| AA Mutation |
p.Lys93Asn(p.K93N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000229854 |
| Start |
52283378:52283378(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.107T>C |
| AA Mutation |
p.Val36Ala(p.V36A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |