| ID |
1 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000389301 |
| Start |
89749730:89749730(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3239G>T |
| AA Mutation |
p.Arg1080Leu(p.R1080L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000389301 |
| Start |
89745007:89745007(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3578T>G |
| AA Mutation |
p.Leu1193Arg(p.L1193R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000389301 |
| Start |
89761983:89761983(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2818C>A |
| AA Mutation |
p.Gln940Lys(p.Q940K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |