| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000324288 |
| Start |
10907951:10907951(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2459G>T |
| AA Mutation |
p.Gly820Val(p.G820V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000324288 |
| Start |
10895669:10895669(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.200A>T |
| AA Mutation |
p.Glu67Val(p.E67V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000324288 |
| Start |
10922442:10922443(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3270dupG |
| AA Mutation |
p.Gln1091AlafsTer61(p.Q1091Afs*61) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |