| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000368885 |
| Start |
110892814:110892814(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.695G>T |
| AA Mutation |
p.Gly232Val(p.G232V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000368885 |
| Start |
110887574:110887574(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.180G>T |
| AA Mutation |
p.Gln60His(p.Q60H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000368885 |
| Start |
110888902:110888903(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.243_244delAT |
| AA Mutation |
p.Cys82TrpfsTer17(p.C82Wfs*17) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |