| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000311813 |
| Start |
30923592:30923592(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.773A>G |
| AA Mutation |
p.Asp258Gly(p.D258G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000311813 |
| Start |
30912247:30912247(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.338C>T |
| AA Mutation |
p.Ser113Leu(p.S113L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000311813 |
| Start |
30922165:30922165(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs546847577
|
| CDS Mutation |
c.484C>T |
| AA Mutation |
p.Arg162Cys(p.R162C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |