| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000314222 |
| Start |
2929095:2929095(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.270G>T |
| AA Mutation |
p.Trp90Cys(p.W90C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000314222 |
| Start |
2929228:2929228(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.137G>C |
| AA Mutation |
p.Arg46Pro(p.R46P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000314222 |
| Start |
2929235:2929235(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.130delC |
| AA Mutation |
p.Arg44AlafsTer124(p.R44Afs*124) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |