| ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000377799 |
| Start |
17174576:17174576(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.149C>A |
| AA Mutation |
p.Thr50Lys(p.T50K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000377799 |
| Start |
17153516:17153516(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1066C>T |
| AA Mutation |
p.Pro356Ser(p.P356S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000377799 |
| Start |
17157612:17157613(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.715_716insTGGAT |
| AA Mutation |
p.His239LeufsTer14(p.H239Lfs*14) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |