| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000307102 |
| Start |
66485066:66485066(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.770C>T |
| AA Mutation |
p.Ala257Val(p.A257V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000307102 |
| Start |
66435145:66435145(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.199G>T |
| AA Mutation |
p.Asp67Tyr(p.D67Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000307102 |
| Start |
66490510:66490510(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1080delT |
| AA Mutation |
p.Phe360LeufsTer74(p.F360Lfs*74) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |