| ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000595883 |
| Start |
50422853:50422853(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.155C>A |
| AA Mutation |
p.Pro52His(p.P52H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000595883 |
| Start |
50422881:50422881(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.183C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000595883 |
| Start |
50422865:50422865(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.171delC |
| AA Mutation |
p.Tyr58MetfsTer122(p.Y58Mfs*122) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |