| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000392017 |
| Start |
233294271:233294271(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1745C>T |
| AA Mutation |
p.Ala582Val(p.A582V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000392017 |
| Start |
233256172:233256172(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs11674205
|
| CDS Mutation |
c.186C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000392017 |
| Start |
233290302:233290308(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1383_1389delTGTAATG |
| AA Mutation |
p.Cys461Ter(p.C461*) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |