| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000265421 |
| Start |
42349076:42349076(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs201913498
|
| CDS Mutation |
c.247C>T |
| AA Mutation |
p.Arg83Cys(p.R83C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000265421 |
| Start |
42355523:42355523(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.383delA |
| AA Mutation |
p.Asn128MetfsTer5(p.N128Mfs*5) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000265421 |
| Start |
42357341:42357341(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.504delA |
| AA Mutation |
p.Val169TrpfsTer27(p.V169Wfs*27) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |