| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000303941 |
| Start |
113400127:113400127(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2158G>A |
| AA Mutation |
p.Val720Ile(p.V720I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000303941 |
| Start |
113399594:113399594(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1625C>T |
| AA Mutation |
p.Ala542Val(p.A542V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000303941 |
| Start |
113400016:113400016(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs778503691
|
| CDS Mutation |
c.2047G>A |
| AA Mutation |
p.Ala683Thr(p.A683T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |