| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000531224 |
| Start |
136278126:136278126(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.755A>C |
| AA Mutation |
p.His252Pro(p.H252P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000531224 |
| Start |
136261435:136261435(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs773332392
|
| CDS Mutation |
c.2587G>A |
| AA Mutation |
p.Gly863Arg(p.G863R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000531224 |
| Start |
136278258:136278258(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.623C>A |
| AA Mutation |
p.Thr208Lys(p.T208K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |