| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000278559 |
| Start |
77084995:77084995(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs781003018
|
| CDS Mutation |
c.109G>A |
| AA Mutation |
p.Asp37Asn(p.D37N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000278559 |
| Start |
77114406:77114406(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs200993761
|
| CDS Mutation |
c.671G>A |
| AA Mutation |
p.Arg224Gln(p.R224Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000278559 |
| Start |
77122680:77122680(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs782363480
|
| CDS Mutation |
c.1708C>T |
| AA Mutation |
p.Arg570Cys(p.R570C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |