| ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000263776 |
| Start |
44077899:44077899(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.709G>A |
| AA Mutation |
p.Ala237Thr(p.A237T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000263776 |
| Start |
44075589:44075589(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.556+1delG |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000263776 |
| Start |
44083472:44083472(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1307delT |
| AA Mutation |
p.Leu436TrpfsTer92(p.L436Wfs*92) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |