| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000372189 |
| Start |
131650138:131650138(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.255A>C |
| AA Mutation |
p.Gln85His(p.Q85H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000372189 |
| Start |
131621858:131621858(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1792G>A |
| AA Mutation |
p.Gly598Arg(p.G598R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000372189 |
| Start |
131602140:131602140(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1864G>C |
| AA Mutation |
p.Ala622Pro(p.A622P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |