| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000378043 |
| Start |
61951843:61951843(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.37C>T |
| AA Mutation |
p.Arg13Cys(p.R13C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000378043 |
| Start |
61959944:61959944(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs148326372
|
| CDS Mutation |
c.1001C>T |
| AA Mutation |
p.Pro334Leu(p.P334L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000378043 |
| Start |
61962712:61962712(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs61747600
|
| CDS Mutation |
c.1558G>A |
| AA Mutation |
p.Asp520Asn(p.D520N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |