Gene >> CTSB
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000345125 |
| Start |
11849110:11849110(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.382C>T |
| AA Mutation |
p.His128Tyr(p.H128Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000345125 |
| Start |
11848081:11848082(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.517dupT |
| AA Mutation |
p.Tyr173LeufsTer2(p.Y173Lfs*2) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |