| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000265627 |
| Start |
95394661:95394661(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.128A>T |
| AA Mutation |
p.His43Leu(p.H43L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000265627 |
| Start |
95367484:95367484(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.372T>A |
| AA Mutation |
p.Asn124Lys(p.N124K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000265627 |
| Start |
95390186:95390186(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.169A>G |
| AA Mutation |
p.Ile57Val(p.I57V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |