| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000294724 |
| Start |
99884168:99884168(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs147586981
|
| CDS Mutation |
c.2357C>T |
| AA Mutation |
p.Thr786Met(p.T786M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000294724 |
| Start |
99891337:99891337(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs147977213
|
| CDS Mutation |
c.2930G>A |
| AA Mutation |
p.Arg977Gln(p.R977Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000294724 |
| Start |
99916663:99916663(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4413G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |