| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000177648 |
| Start |
112431118:112431118(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1571G>C |
| AA Mutation |
p.Gly524Ala(p.G524A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000177648 |
| Start |
112411836:112411836(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.286A>T |
| AA Mutation |
p.Arg96Trp(p.R96W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000177648 |
| Start |
112432230:112432230(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2683A>G |
| AA Mutation |
p.Asn895Asp(p.N895D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |