| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000251250 |
| Start |
49643375:49643375(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs766234751
|
| CDS Mutation |
c.712C>T |
| AA Mutation |
p.Arg238Cys(p.R238C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000251250 |
| Start |
49632205:49632205(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.311G>A |
| AA Mutation |
p.Gly104Asp(p.G104D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000251250 |
| Start |
49634725:49634725(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.604delA |
| AA Mutation |
p.Ile202LeufsTer4(p.I202Lfs*4) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |