| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000336824 |
| Start |
172251383:172251383(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.632C>T |
| AA Mutation |
p.Ser211Phe(p.S211F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000336824 |
| Start |
172397279:172397279(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3419G>T |
| AA Mutation |
p.Gly1140Val(p.G1140V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000336824 |
| Start |
172378420:172378420(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
rs776920749
|
| CDS Mutation |
c.3165delC |
| AA Mutation |
p.Thr1056ProfsTer7(p.T1056Pfs*7) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |