| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000377317 |
| Start |
144475161:144475161(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs756421619
|
| CDS Mutation |
c.275G>A |
| AA Mutation |
p.Arg92His(p.R92H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000377317 |
| Start |
144474399:144474399(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.937delG |
| AA Mutation |
p.Val313TrpfsTer15(p.V313Wfs*15) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000377317 |
| Start |
144474628:144474629(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.707dupG |
| AA Mutation |
p.Ala237SerfsTer12(p.A237Sfs*12) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |