| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000560572 |
| Start |
45121093:45121093(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.334C>G |
| AA Mutation |
p.Leu112Val(p.L112V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000560572 |
| Start |
45119141:45119141(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs745874216
|
| CDS Mutation |
c.997G>A |
| AA Mutation |
p.Glu333Lys(p.E333K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000560572 |
| Start |
45121222:45121222(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.206-1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |