| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264932 |
| Start |
235169:235169(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs372738835
|
| CDS Mutation |
c.1090G>A |
| AA Mutation |
p.Val364Ile(p.V364I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264932 |
| Start |
251446:251446(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs367621815
|
| CDS Mutation |
c.1772C>T |
| AA Mutation |
p.Ala591Val(p.A591V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000264932 |
| Start |
228219:228220(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.660dupT |
| AA Mutation |
p.Ala221CysfsTer100(p.A221Cfs*100) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |