| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000298841 |
| Start |
94567024:94567024(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.704T>A |
| AA Mutation |
p.Val235Asp(p.V235D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000298841 |
| Start |
94563897:94563897(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs539993882
|
| CDS Mutation |
c.415G>A |
| AA Mutation |
p.Val139Met(p.V139M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000298841 |
| Start |
94567237:94567237(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs540841872
|
| CDS Mutation |
c.917G>A |
| AA Mutation |
p.Arg306Gln(p.R306Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |