| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000215886 |
| Start |
37570372:37570372(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.290T>A |
| AA Mutation |
p.Leu97Gln(p.L97Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000215886 |
| Start |
37570692:37570692(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.133C>T |
| AA Mutation |
p.His45Tyr(p.H45Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000215886 |
| Start |
37571853:37571853(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.85delG |
| AA Mutation |
p.Asp29MetfsTer4(p.D29Mfs*4) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |