| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000311737 |
| Start |
142753010:142753010(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.734C>T |
| AA Mutation |
p.Ala245Val(p.A245V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000311737 |
| Start |
142751894:142751896(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.324_326delCAT |
| AA Mutation |
p.Ile108del(p.I108del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000311737 |
| Start |
142750568:142750570(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.63_65delTGA |
| AA Mutation |
p.Asp22del(p.D22del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |