| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000394907 |
| Start |
76009243:76009243(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.61G>T |
| AA Mutation |
p.Gly21Trp(p.G21W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000394907 |
| Start |
75961873:75961873(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs778316625
|
| CDS Mutation |
c.206C>T |
| AA Mutation |
p.Ala69Val(p.A69V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000394907 |
| Start |
75961875:75961878(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.201_204delATTG |
| AA Mutation |
p.Leu68ArgfsTer3(p.L68Rfs*3) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |