| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000297130 |
| Start |
150671613:150671613(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.233C>T |
| AA Mutation |
p.Ala78Val(p.A78V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000297130 |
| Start |
150676805:150676805(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs144937475
|
| CDS Mutation |
c.686G>A |
| AA Mutation |
p.Arg229His(p.R229H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000297130 |
| Start |
150670634:150670634(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs765485012
|
| CDS Mutation |
c.212G>A |
| AA Mutation |
p.Arg71Gln(p.R71Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |