| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000621226 |
| Start |
1165382:1165382(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1210G>A |
| AA Mutation |
p.Ala404Thr(p.A404T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000621226 |
| Start |
1163945:1163946(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.744dupT |
| AA Mutation |
p.Gln249SerfsTer6(p.Q249Sfs*6) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000621226 |
| Start |
1192239:1192240(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.14095dupG |
| AA Mutation |
p.Glu4699GlyfsTer90(p.E4699Gfs*90) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |