| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000372806 |
| Start |
45001285:45001285(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1079C>T |
| AA Mutation |
p.Thr360Met(p.T360M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000372806 |
| Start |
44997209:44997209(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs770104834
|
| CDS Mutation |
c.734G>A |
| AA Mutation |
p.Arg245Gln(p.R245Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000372806 |
| Start |
44978457:44978457(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.131T>C |
| AA Mutation |
p.Val44Ala(p.V44A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |