| ID |
12 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000205402 |
| Start |
107906310:107906311(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.633dupA |
| AA Mutation |
p.Val212SerfsTer32(p.V212Sfs*32) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| ID |
13 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000205402 |
| Start |
107917923:107917923(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1238delG |
| AA Mutation |
p.Gly413ValfsTer27(p.X413_splice) |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| ID |
14 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000205402 |
| Start |
107917463:107917463(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1236+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |