| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000400566 |
| Start |
14500711:14500711(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.586T>C |
| AA Mutation |
p.Cys196Arg(p.C196R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000285670 |
| Start |
14582221:14582221(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.176T>A |
| AA Mutation |
p.Val59Asp(p.V59D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000400566 |
| Start |
14486067:14486067(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.967G>T |
| AA Mutation |
p.Asp323Tyr(p.D323Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |