| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000301532 |
| Start |
55935658:55935658(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.743C>A |
| AA Mutation |
p.Thr248Asn(p.T248N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000301532 |
| Start |
55935740:55935740(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.661T>C |
| AA Mutation |
p.Phe221Leu(p.F221L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000301532 |
| Start |
55935639:55935639(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.762A>T |
| AA Mutation |
p.Gln254His(p.Q254H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |