| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000224237 |
| Start |
17229487:17229487(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.65G>T |
| AA Mutation |
p.Ser22Ile(p.S22I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000224237 |
| Start |
17229664:17229664(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.242A>T |
| AA Mutation |
p.Gln81Leu(p.Q81L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000224237 |
| Start |
17235864:17235864(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1248A>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |