| ID |
2 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000521381 |
| Start |
68294605:68294605(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1495C>T |
| AA Mutation |
p.Gln499Ter(p.Q499*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000521381 |
| Start |
68280596:68280596(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.703C>T |
| AA Mutation |
p.Gln235Ter(p.Q235*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000521381 |
| Start |
68295299:68295301(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1721_1723delGAA |
| AA Mutation |
p.Arg574del(p.R574del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |