| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000327247 |
| Start |
155235036:155235036(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1570C>T |
| AA Mutation |
p.Pro524Ser(p.P524S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000327247 |
| Start |
155239934:155239934(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs1141814
|
| CDS Mutation |
c.259C>T |
| AA Mutation |
p.Arg87Trp(p.R87W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000327247 |
| Start |
155235764:155235764(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1305C>A |
| AA Mutation |
p.Asn435Lys(p.N435K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |