| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000358528 |
| Start |
114732748:114732748(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.906A>T |
| AA Mutation |
p.Lys302Asn(p.K302N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000358528 |
| Start |
114737483:114737483(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.390C>G |
| AA Mutation |
p.Tyr130Ter(p.Y130*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000358528 |
| Start |
114719653:114719654(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2141_2142insC |
| AA Mutation |
p.Asp715ArgfsTer2(p.D715Rfs*2) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |