| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000305046 |
| Start |
99311568:99311568(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.917C>A |
| AA Mutation |
p.Pro306His(p.P306H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000305046 |
| Start |
99316226:99316226(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.336C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000305046 |
| Start |
99318121:99318121(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.184delC |
| AA Mutation |
p.Leu62PhefsTer3(p.L62Ffs*3) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |