| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000313071 |
| Start |
28767989:28767989(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.710A>G |
| AA Mutation |
p.Lys237Arg(p.K237R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000313071 |
| Start |
28767295:28767295(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.16G>A |
| AA Mutation |
p.Asp6Asn(p.D6N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000313071 |
| Start |
28768423:28768423(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1144G>A |
| AA Mutation |
p.Ala382Thr(p.A382T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |