| ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000232892 |
| Start |
151817583:151817583(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.356G>A |
| AA Mutation |
p.Ser119Asn(p.S119N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000232892 |
| Start |
151814166:151814166(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4G>T |
| AA Mutation |
p.Gly2Ter(p.G2*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000232892 |
| Start |
151827896:151827897(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.930dupA |
| AA Mutation |
p.Tyr311IlefsTer15(p.Y311Ifs*15) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |