| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000560572 |
| Start |
45120241:45120241(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs770239459
|
| CDS Mutation |
c.634G>A |
| AA Mutation |
p.Ala212Thr(p.A212T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000560572 |
| Start |
45121171:45121171(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.256T>C |
| AA Mutation |
p.Ser86Pro(p.S86P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000560572 |
| Start |
45119188:45119188(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs754407796
|
| CDS Mutation |
c.950A>G |
| AA Mutation |
p.Gln317Arg(p.Q317R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |