| ID |
1 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000209665 |
| Start |
99428088:99428088(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs549028723
|
| CDS Mutation |
c.382G>A |
| AA Mutation |
p.Asp128Asn(p.D128N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000209665 |
| Start |
99419033:99419033(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs141729668
|
| CDS Mutation |
c.950C>T |
| AA Mutation |
p.Pro317Leu(p.P317L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000209665 |
| Start |
99420565:99420565(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.829A>G |
| AA Mutation |
p.Thr277Ala(p.T277A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |