| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000372581 |
| Start |
42154782:42154782(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.193G>A |
| AA Mutation |
p.Ala65Thr(p.A65T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000372581 |
| Start |
42155562:42155562(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.305T>G |
| AA Mutation |
p.Leu102Arg(p.L102R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000372581 |
| Start |
42154751:42154751(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.166delC |
| AA Mutation |
p.Arg56AlafsTer37(p.R56Afs*37) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |