| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000508166 |
| Start |
22736185:22736185(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.263C>T |
| AA Mutation |
p.Thr88Met(p.T88M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000508166 |
| Start |
22747734:22747734(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.725C>A |
| AA Mutation |
p.Ala242Asp(p.A242D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000508166 |
| Start |
22748046:22748046(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1037T>G |
| AA Mutation |
p.Ile346Ser(p.I346S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |