| ID |
2 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000332351 |
| Start |
32417579:32417579(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.948G>T |
| AA Mutation |
p.Lys316Asn(p.K316N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000332351 |
| Start |
32434708:32434708(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.638G>T |
| AA Mutation |
p.Arg213Leu(p.R213L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000332351 |
| Start |
32400009:32400009(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1037C>T |
| AA Mutation |
p.Thr346Met(p.T346M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |