| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000547776 |
| Start |
99504580:99504580(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1334C>A |
| AA Mutation |
p.Thr445Lys(p.T445K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000547776 |
| Start |
99246687:99246687(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1934C>G |
| AA Mutation |
p.Pro645Arg(p.P645R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000547776 |
| Start |
98751410:98751410(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3617A>G |
| AA Mutation |
p.Glu1206Gly(p.E1206G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |