| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000334136 |
| Start |
48820236:48820236(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2318G>T |
| AA Mutation |
p.Arg773Leu(p.R773L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000334136 |
| Start |
48814702:48814702(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.961G>T |
| AA Mutation |
p.Ala321Ser(p.A321S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000334136 |
| Start |
48823145:48823145(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2750delG |
| AA Mutation |
p.Gly917GlufsTer69(p.G917Efs*69) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |