| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000360085 |
| Start |
43953467:43953467(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.17G>T |
| AA Mutation |
p.Arg6Met(p.R6M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000360085 |
| Start |
43953119:43953119(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs371634156
|
| CDS Mutation |
c.259G>A |
| AA Mutation |
p.Val87Ile(p.V87I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000360085 |
| Start |
43952978:43952978(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs763327469
|
| CDS Mutation |
c.272C>T |
| AA Mutation |
p.Ser91Leu(p.S91L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |