| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000200453 |
| Start |
48874432:48874432(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1199A>G |
| AA Mutation |
p.Glu400Gly(p.E400G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000200453 |
| Start |
48873985:48873985(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.752delG |
| AA Mutation |
p.Arg251HisfsTer89(p.R251Hfs*89) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000200453 |
| Start |
48875822:48875822(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1878delC |
| AA Mutation |
p.Ile627SerfsTer23(p.I627Sfs*23) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |