| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000251047 |
| Start |
59345962:59345962(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
rs746845401
|
| CDS Mutation |
c.912delA |
| AA Mutation |
p.Glu305ArgfsTer22(p.E305Rfs*22) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000251047 |
| Start |
59353237:59353237(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.604C>T |
| AA Mutation |
p.Arg202Ter(p.R202*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000251047 |
| Start |
59346007:59346007(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.867T>G |
| AA Mutation |
p.Tyr289Ter(p.Y289*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |