| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000371222 |
| Start |
58782953:58782953(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.118C>A |
| AA Mutation |
p.Leu40Met(p.L40M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000371222 |
| Start |
58782140:58782141(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.930_931delGA |
| AA Mutation |
p.Lys311SerfsTer6(p.K311Sfs*6) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000371222 |
| Start |
58782788:58782789(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.282dupC |
| AA Mutation |
p.Thr95HisfsTer12(p.T95Hfs*12) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |