| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000468660 |
| Start |
56270277:56270277(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.854A>G |
| AA Mutation |
p.Tyr285Cys(p.Y285C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000468660 |
| Start |
56265729:56265729(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.635delA |
| AA Mutation |
p.Asn212MetfsTer5(p.N212Mfs*5) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000468660 |
| Start |
56265425:56265426(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.333dupC |
| AA Mutation |
p.Lys112GlnfsTer17(p.K112Qfs*17) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |