| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000378182 |
| Start |
50013030:50013030(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1090T>G |
| AA Mutation |
p.Phe364Val(p.F364V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000378182 |
| Start |
50012825:50012825(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.885T>G |
| AA Mutation |
p.Asp295Glu(p.D295E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000378182 |
| Start |
50012146:50012146(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.206T>C |
| AA Mutation |
p.Leu69Pro(p.L69P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |