| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000371752 |
| Start |
49263394:49263394(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs139038003
|
| CDS Mutation |
c.2241G>T |
| AA Mutation |
p.Gln747His(p.Q747H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000371752 |
| Start |
49270682:49270682(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1130G>T |
| AA Mutation |
p.Arg377Leu(p.R377L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000371752 |
| Start |
49248129:49248129(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4895A>G |
| AA Mutation |
p.Tyr1632Cys(p.Y1632C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |