| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000373426 |
| Start |
233682245:233682245(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.308G>A |
| AA Mutation |
p.Arg103Gln(p.R103Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000373426 |
| Start |
233682295:233682295(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.364delT |
| AA Mutation |
p.Ser122GlnfsTer12(p.S122Qfs*12) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000373426 |
| Start |
233682088:233682089(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.156dupG |
| AA Mutation |
p.His53AlafsTer2(p.H53Afs*2) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |