| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264159 |
| Start |
135224481:135224481(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2195A>G |
| AA Mutation |
p.Asp732Gly(p.D732G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000264159 |
| Start |
135227940:135227940(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2030delA |
| AA Mutation |
p.Lys677ArgfsTer58(p.K677Rfs*58) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000264159 |
| Start |
135275693:135275694(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1028_1029insG |
| AA Mutation |
p.Ala345CysfsTer18(p.A345Cfs*18) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |