| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000344624 |
| Start |
31486522:31486522(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs756470214
|
| CDS Mutation |
c.1883C>T |
| AA Mutation |
p.Thr628Met(p.T628M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000344624 |
| Start |
31493230:31493230(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1819T>C |
| AA Mutation |
p.Phe607Leu(p.F607L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000344624 |
| Start |
31421282:31421282(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3515delG |
| AA Mutation |
p.Gly1172AspfsTer3(p.G1172Dfs*3) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |