| ID |
2 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000372476 |
| Start |
43308988:43308988(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs770774201
|
| CDS Mutation |
c.1045C>T |
| AA Mutation |
p.Arg349Trp(p.R349W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000372476 |
| Start |
43311682:43311682(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1345C>T |
| AA Mutation |
p.Pro449Ser(p.P449S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000372476 |
| Start |
43313828:43313828(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2269C>A |
| AA Mutation |
p.Leu757Met(p.L757M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |