| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000361669 |
| Start |
86786408:86786408(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs372311811
|
| CDS Mutation |
c.616C>T |
| AA Mutation |
p.Arg206Cys(p.R206C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000361669 |
| Start |
86786747:86786747(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.955G>A |
| AA Mutation |
p.Gly319Ser(p.G319S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000361669 |
| Start |
86839550:86839550(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2036G>A |
| AA Mutation |
p.Arg679Lys(p.R679K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |