| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000575354 |
| Start |
42290957:42290957(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2189C>G |
| AA Mutation |
p.Ser730Trp(p.S730W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000575354 |
| Start |
42294653:42294653(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4377A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000575354 |
| Start |
42295015:42295031(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4654_4670delAGCCCCGCAGGGGGCCC |
| AA Mutation |
p.Ser1552Ter(p.S1552*) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |