| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000366541 |
| Start |
243304721:243304721(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.687delA |
| AA Mutation |
p.Lys229AsnfsTer15(p.K229Nfs*15) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000366541 |
| Start |
243293160:243293160(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.619delT |
| AA Mutation |
p.Ser207ProfsTer17(p.S207Pfs*17) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000366541 |
| Start |
243415709:243415709(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1624A>T |
| AA Mutation |
p.Lys542Ter(p.K542*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |