VISION VARIATION DATABASE

  HGVS protein change HGVS nucleotide change Variant Locale Genomic position (Hg19) Variant Type Phenotype
NM_001023571:p.Leu457Stop NM_001023571:c.1370T>A EXON12 chr3:121489220:A>T Probable highly penetrant allele
NM_001023571:p.Asn456Ile NM_001023571:c.1367A>T EXON12 chr3:121489223:T>A Possible highly penetrant allele
NM_001023571:p.Gln387Stop NM_001023571:c.1159C>T EXON11 chr3:121491413:G>A Probable highly penetrant allele
NM_001023571:p.Val385Ile NM_001023571:c.1153G>A EXON11 chr3:121491419:C>T
NM_001023571:p.Asn384Tyr NM_001023571:c.1150A>T EXON11 chr3:121491422:T>A Benign
NM_001023571:p.Ala370Ala NM_001023571:c.1110C>G EXON11 chr3:121491462:G>C Benign
NM_001023571:p.Arg356Stop NM_001023571:c.1066C>T EXON11 chr3:121491506:G>A Probable highly penetrant allele
NM_001023571:p.Glu348Lys NM_001023571:c.1042G>A EXON11 chr3:121491530:C>T Benign
NM_001023571:p.Arg328Stop NM_001023571:c.982C>T EXON10 chr3:121500619:G>A Probable highly penetrant allele
NM_001023571:p.Arg322Stop NM_001023571:c.964C>T EXON10 chr3:121500637:G>A Probable highly penetrant allele
NM_001023571:p.Lys304Lys NM_001023571:c.912A>G EXON10 chr3:121500689:T>C Benign
NM_001023571:p.Arg302Cys NM_001023571:c.904C>T EXON10 chr3:121500697:G>A Benign
NM_001023571:p.Cys301Ser NM_001023571:c.902G>C EXON10 chr3:121500699:C>G Benign
NM_001023571:p.Cys301Tyr NM_001023571:c.902G>A EXON10 chr3:121500699:C>T Benign
NM_001023571:p.Arg231Stop NM_001023571:c.691C>T EXON8 chr3:121508959:G>A Probable highly penetrant allele
NM_001023571:p.Glu213Stop NM_001023571:c.637G>T EXON8 chr3:121509013:C>A Probable highly penetrant allele
NM_001023571:p.Arg199Stop NM_001023571:c.595C>T EXON8 chr3:121509055:G>A Probable highly penetrant allele
NM_001023570:p.Glu269Gly NM_001023570:c.806A>G EXON9 chr3:121516035:T>C Possible highly penetrant allele
NM_001023570:p.Arg204Arg NM_001023570:c.612A>G EXON8 chr3:121518197:T>C Benign
NM_001023571:p.Leu192Leu NM_001023571:c.574C>T EXON7 chr3:121526204:G>A Benign
NM_001023571:p.Phe169Ser NM_001023571:c.506T>C EXON7 chr3:121526272:A>G Possible highly penetrant allele
NM_001023571:p.Phe142Leu NM_001023571:c.424T>C EXON6 chr3:121527826:A>G Benign
NM_001023571:p.Leu138Leu NM_001023571:c.414A>G EXON6 chr3:121527836:T>C Benign
NM_001023571:p.Ser110Pro NM_001023571:c.328T>C EXON5 chr3:121544963:A>G Possible highly penetrant allele
NM_001023571:p.Ile49Asn NM_001023571:c.146T>A EXON4 chr3:121547434:A>T Possible highly penetrant allele
NM_001023571:p.Glu16Gly NM_001023571:c.47A>G EXON3 chr3:121547761:T>C Possible highly penetrant allele