Gene >> PLOD3
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000223127 |
| Start |
101211662:101211662(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1287G>T |
| AA Mutation |
p.Trp429Cys(p.W429C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000223127 |
| Start |
101212845:101212845(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.876delG |
| AA Mutation |
p.Gln293SerfsTer65(p.Q293Sfs*65) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |