| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000378357 |
| Start |
35674108:35674108(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.149G>T |
| AA Mutation |
p.Gly50Val(p.G50V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000378357 |
| Start |
35675919:35675919(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.592A>T |
| AA Mutation |
p.Asn198Tyr(p.N198Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000378357 |
| Start |
35674291:35674291(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.332A>C |
| AA Mutation |
p.Glu111Ala(p.E111A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |