| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000263062 |
| Start |
32346912:32346912(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4A>G |
| AA Mutation |
p.Ser2Gly(p.S2G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000263062 |
| Start |
32272147:32272147(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1953G>C |
| AA Mutation |
p.Leu651Phe(p.L651F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000263062 |
| Start |
32271669:32271669(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs762872734
|
| CDS Mutation |
c.2323C>T |
| AA Mutation |
p.Arg775Ter(p.R775*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |