| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000315520 |
| Start |
49973349:49973349(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.176C>T |
| AA Mutation |
p.Ala59Val(p.A59V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000315520 |
| Start |
49973495:49973495(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.322C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000315520 |
| Start |
49974433:49974433(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.515delC |
| AA Mutation |
p.Pro172ArgfsTer4(p.P172Rfs*4) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |