| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000377346 |
| Start |
9720201:9720201(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs572367173
|
| CDS Mutation |
c.1429G>A |
| AA Mutation |
p.Glu477Lys(p.E477K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000377346 |
| Start |
9717612:9717612(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1006G>T |
| AA Mutation |
p.Asp336Tyr(p.D336Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000377346 |
| Start |
9718858:9718858(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs769070246
|
| CDS Mutation |
c.1185C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |