| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000241261 |
| Start |
172523308:172523308(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.77T>G |
| AA Mutation |
p.Leu26Arg(p.L26R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000241261 |
| Start |
172506513:172506513(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.825delT |
| AA Mutation |
p.Phe275LeufsTer5(p.F275Lfs*5) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000241261 |
| Start |
172506512:172506513(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.825dupT |
| AA Mutation |
p.Gly276TrpfsTer26(p.G276Wfs*26) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |