| ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000353609 |
| Start |
45470902:45470902(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.400C>T |
| AA Mutation |
p.Pro134Ser(p.P134S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000353609 |
| Start |
45472952:45472952(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.957C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
9 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000353609 |
| Start |
45472812:45472812(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.822delC |
| AA Mutation |
p.Asn275ThrfsTer2(p.N275Tfs*2) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |