| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000336926 |
| Start |
75546994:75546994(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2504A>T |
| AA Mutation |
p.Gln835Leu(p.Q835L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000336926 |
| Start |
75544751:75544751(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2710A>T |
| AA Mutation |
p.Met904Leu(p.M904L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000336926 |
| Start |
75548970:75548970(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2327A>T |
| AA Mutation |
p.Gln776Leu(p.Q776L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |