| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000373461 |
| Start |
37944077:37944077(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.439T>C |
| AA Mutation |
p.Phe147Leu(p.F147L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000373461 |
| Start |
37944084:37944084(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.446A>G |
| AA Mutation |
p.Asp149Gly(p.D149G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000373461 |
| Start |
37944015:37944018(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.377_380delAGCT |
| AA Mutation |
p.Lys126SerfsTer6(p.K126Sfs*6) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |