| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000321358 |
| Start |
42700896:42700896(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.856A>G |
| AA Mutation |
p.Asn286Asp(p.N286D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000321358 |
| Start |
42700933:42700933(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.893A>T |
| AA Mutation |
p.Gln298Leu(p.Q298L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000321358 |
| Start |
42696730:42696730(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs772212080
|
| CDS Mutation |
c.443A>G |
| AA Mutation |
p.Tyr148Cys(p.Y148C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |