Gene >> KRT18
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000388835 |
| Start |
52951577:52951577(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.754A>G |
| AA Mutation |
p.Ile252Val(p.I252V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000388835 |
| Start |
52952248:52952249(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1081dupC |
| AA Mutation |
p.Gln361ProfsTer4(p.Q361Pfs*4) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |