Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.48511345A>CCA412841858PORCNc.187A>C (p.Ser63Arg)
n.346A>C
n.369A>C
c.137-21A>C (n.137-21A>C)
c.52A>C (p.Ser18Arg)
c.137-547A>C (n.137-547A>C)
c.329-21A>C (n.329-21A>C)
n.537A>C
n.247-21A>C
c.-6-21A>C (n.-6-21A>C)
c.526A>C (p.Ser176Arg)
c.439A>C (p.Ser147Arg)
c.292A>C (p.Ser98Arg)
c.259-21A>C (n.259-21A>C)
Xg.48511345A>GCA412841860PORCNc.187A>G (p.Ser63Gly)
n.346A>G
n.369A>G
c.137-21A>G (n.137-21A>G)
c.52A>G (p.Ser18Gly)
c.137-547A>G (n.137-547A>G)
c.329-21A>G (n.329-21A>G)
n.537A>G
n.247-21A>G
c.-6-21A>G (n.-6-21A>G)
c.526A>G (p.Ser176Gly)
c.439A>G (p.Ser147Gly)
c.292A>G (p.Ser98Gly)
c.259-21A>G (n.259-21A>G)
Xg.48511345A>TCA412841862PORCNc.187A>T (p.Ser63Cys)
n.346A>T
n.369A>T
c.137-21A>T (n.137-21A>T)
c.52A>T (p.Ser18Cys)
c.137-547A>T (n.137-547A>T)
c.329-21A>T (n.329-21A>T)
n.537A>T
n.247-21A>T
c.-6-21A>T (n.-6-21A>T)
c.526A>T (p.Ser176Cys)
c.439A>T (p.Ser147Cys)
c.292A>T (p.Ser98Cys)
c.259-21A>T (n.259-21A>T)
Xg.48511346G>ACA412841865PORCNc.188G>A (p.Ser63Asn)
n.347G>A
n.370G>A
c.137-20G>A (n.137-20G>A)
c.53G>A (p.Ser18Asn)
c.137-546G>A (n.137-546G>A)
c.329-20G>A (n.329-20G>A)
n.538G>A
n.247-20G>A
c.-6-20G>A (n.-6-20G>A)
c.527G>A (p.Ser176Asn)
c.440G>A (p.Ser147Asn)
c.293G>A (p.Ser98Asn)
c.259-20G>A (n.259-20G>A)
Xg.48511346G>CCA412841869PORCNc.188G>C (p.Ser63Thr)
n.347G>C
n.370G>C
c.137-20G>C (n.137-20G>C)
c.53G>C (p.Ser18Thr)
c.137-546G>C (n.137-546G>C)
c.329-20G>C (n.329-20G>C)
n.538G>C
n.247-20G>C
c.-6-20G>C (n.-6-20G>C)
c.527G>C (p.Ser176Thr)
c.440G>C (p.Ser147Thr)
c.293G>C (p.Ser98Thr)
c.259-20G>C (n.259-20G>C)
Xg.48511346G>TCA412841867PORCNc.188G>T (p.Ser63Ile)
n.347G>T
n.370G>T
c.137-20G>T (n.137-20G>T)
c.53G>T (p.Ser18Ile)
c.137-546G>T (n.137-546G>T)
c.329-20G>T (n.329-20G>T)
n.538G>T
n.247-20G>T
c.-6-20G>T (n.-6-20G>T)
c.527G>T (p.Ser176Ile)
c.440G>T (p.Ser147Ile)
c.293G>T (p.Ser98Ile)
c.259-20G>T (n.259-20G>T)
Xg.48511347C>ACA412841872PORCNc.189C>A (p.Ser63Arg)
n.348C>A
n.371C>A
c.137-19C>A (n.137-19C>A)
c.54C>A (p.Ser18Arg)
c.137-545C>A (n.137-545C>A)
c.329-19C>A (n.329-19C>A)
n.539C>A
n.247-19C>A
c.-6-19C>A (n.-6-19C>A)
c.528C>A (p.Ser176Arg)
c.441C>A (p.Ser147Arg)
c.294C>A (p.Ser98Arg)
c.259-19C>A (n.259-19C>A)
Xg.48511347C>GCA412841873PORCNc.189C>G (p.Ser63Arg)
n.348C>G
n.371C>G
c.137-19C>G (n.137-19C>G)
c.54C>G (p.Ser18Arg)
c.137-545C>G (n.137-545C>G)
c.329-19C>G (n.329-19C>G)
n.539C>G
n.247-19C>G
c.-6-19C>G (n.-6-19C>G)
c.528C>G (p.Ser176Arg)
c.441C>G (p.Ser147Arg)
c.294C>G (p.Ser98Arg)
c.259-19C>G (n.259-19C>G)
Xg.48511347C>TCA516009899PORCNc.189C>T (p.Ser63=)
n.348C>T
n.371C>T
c.137-19C>T (n.137-19C>T)
c.54C>T (p.Ser18=)
c.137-545C>T (n.137-545C>T)
c.329-19C>T (n.329-19C>T)
n.539C>T
n.247-19C>T
c.-6-19C>T (n.-6-19C>T)
c.528C>T (p.Ser176=)
c.441C>T (p.Ser147=)
c.294C>T (p.Ser98=)
c.259-19C>T (n.259-19C>T)
Xg.48511348C>ACA412841876PORCNc.190C>A (p.Leu64Ile)
n.349C>A
n.372C>A
c.137-18C>A (n.137-18C>A)
c.55C>A (p.Leu19Ile)
c.137-544C>A (n.137-544C>A)
c.329-18C>A (n.329-18C>A)
n.540C>A
n.247-18C>A
c.-6-18C>A (n.-6-18C>A)
c.529C>A (p.Leu177Ile)
c.442C>A (p.Leu148Ile)
c.295C>A (p.Leu99Ile)
c.259-18C>A (n.259-18C>A)
Xg.48511348C>GCA412841878PORCNc.190C>G (p.Leu64Val)
n.349C>G
n.372C>G
c.137-18C>G (n.137-18C>G)
c.55C>G (p.Leu19Val)
c.137-544C>G (n.137-544C>G)
c.329-18C>G (n.329-18C>G)
n.540C>G
n.247-18C>G
c.-6-18C>G (n.-6-18C>G)
c.529C>G (p.Leu177Val)
c.442C>G (p.Leu148Val)
c.295C>G (p.Leu99Val)
c.259-18C>G (n.259-18C>G)
Xg.48511348C>TCA412841880PORCNc.190C>T (p.Leu64Phe)
n.349C>T
n.372C>T
c.137-18C>T (n.137-18C>T)
c.55C>T (p.Leu19Phe)
c.137-544C>T (n.137-544C>T)
c.329-18C>T (n.329-18C>T)
n.540C>T
n.247-18C>T
c.-6-18C>T (n.-6-18C>T)
c.529C>T (p.Leu177Phe)
c.442C>T (p.Leu148Phe)
c.295C>T (p.Leu99Phe)
c.259-18C>T (n.259-18C>T)
Xg.48511349T>ACA412841883PORCNc.191T>A (p.Leu64His)
n.350T>A
n.373T>A
c.137-17T>A (n.137-17T>A)
c.56T>A (p.Leu19His)
c.137-543T>A (n.137-543T>A)
c.329-17T>A (n.329-17T>A)
n.541T>A
n.247-17T>A
c.-6-17T>A (n.-6-17T>A)
c.530T>A (p.Leu177His)
c.443T>A (p.Leu148His)
c.296T>A (p.Leu99His)
c.259-17T>A (n.259-17T>A)
Xg.48511349T>CCA412841884PORCNc.191T>C (p.Leu64Pro)
n.350T>C
n.373T>C
c.137-17T>C (n.137-17T>C)
c.56T>C (p.Leu19Pro)
c.137-543T>C (n.137-543T>C)
c.329-17T>C (n.329-17T>C)
n.541T>C
n.247-17T>C
c.-6-17T>C (n.-6-17T>C)
c.530T>C (p.Leu177Pro)
c.443T>C (p.Leu148Pro)
c.296T>C (p.Leu99Pro)
c.259-17T>C (n.259-17T>C)
Xg.48511349T>GCA412841887PORCNc.191T>G (p.Leu64Arg)
n.350T>G
n.373T>G
c.137-17T>G (n.137-17T>G)
c.56T>G (p.Leu19Arg)
c.137-543T>G (n.137-543T>G)
c.329-17T>G (n.329-17T>G)
n.541T>G
n.247-17T>G
c.-6-17T>G (n.-6-17T>G)
c.530T>G (p.Leu177Arg)
c.443T>G (p.Leu148Arg)
c.296T>G (p.Leu99Arg)
c.259-17T>G (n.259-17T>G)
Xg.48511350C>ACA516009909PORCNc.192C>A (p.Leu64=)
n.351C>A
n.374C>A
c.137-16C>A (n.137-16C>A)
c.57C>A (p.Leu19=)
c.137-542C>A (n.137-542C>A)
c.329-16C>A (n.329-16C>A)
n.542C>A
n.247-16C>A
c.-6-16C>A (n.-6-16C>A)
c.531C>A (p.Leu177=)
c.444C>A (p.Leu148=)
c.297C>A (p.Leu99=)
c.259-16C>A (n.259-16C>A)
Xg.48511350C>GCA516009911PORCNc.192C>G (p.Leu64=)
n.351C>G
n.374C>G
c.137-16C>G (n.137-16C>G)
c.57C>G (p.Leu19=)
c.137-542C>G (n.137-542C>G)
c.329-16C>G (n.329-16C>G)
n.542C>G
n.247-16C>G
c.-6-16C>G (n.-6-16C>G)
c.531C>G (p.Leu177=)
c.444C>G (p.Leu148=)
c.297C>G (p.Leu99=)
c.259-16C>G (n.259-16C>G)
Xg.48511350C>TCA516009914PORCNc.192C>T (p.Leu64=)
n.351C>T
n.374C>T
c.137-16C>T (n.137-16C>T)
c.57C>T (p.Leu19=)
c.137-542C>T (n.137-542C>T)
c.329-16C>T (n.329-16C>T)
n.542C>T
n.247-16C>T
c.-6-16C>T (n.-6-16C>T)
c.531C>T (p.Leu177=)
c.444C>T (p.Leu148=)
c.297C>T (p.Leu99=)
c.259-16C>T (n.259-16C>T)
Xg.48511351T>ACA10402709PORCNc.193T>A (p.Tyr65Asn)
n.352T>A
n.375T>A
c.137-15T>A (n.137-15T>A)
c.58T>A (p.Tyr20Asn)
c.137-541T>A (n.137-541T>A)
c.329-15T>A (n.329-15T>A)
n.543T>A
n.247-15T>A
c.-6-15T>A (n.-6-15T>A)
c.532T>A (p.Tyr178Asn)
c.445T>A (p.Tyr149Asn)
c.298T>A (p.Tyr100Asn)
c.259-15T>A (n.259-15T>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.48511351T>CCA412841891PORCNc.193T>C (p.Tyr65His)
n.352T>C
n.375T>C
c.137-15T>C (n.137-15T>C)
c.58T>C (p.Tyr20His)
c.137-541T>C (n.137-541T>C)
c.329-15T>C (n.329-15T>C)
n.543T>C
n.247-15T>C
c.-6-15T>C (n.-6-15T>C)
c.532T>C (p.Tyr178His)
c.445T>C (p.Tyr149His)
c.298T>C (p.Tyr100His)
c.259-15T>C (n.259-15T>C)
Xg.48511351T>GCA412841892PORCNc.193T>G (p.Tyr65Asp)
n.352T>G
n.375T>G
c.137-15T>G (n.137-15T>G)
c.58T>G (p.Tyr20Asp)
c.137-541T>G (n.137-541T>G)
c.329-15T>G (n.329-15T>G)
n.543T>G
n.247-15T>G
c.-6-15T>G (n.-6-15T>G)
c.532T>G (p.Tyr178Asp)
c.445T>G (p.Tyr149Asp)
c.298T>G (p.Tyr100Asp)
c.259-15T>G (n.259-15T>G)
Xg.48511351T=CA2428293300PORCNc.193T= (p.Tyr65=)
n.352T=
n.375T=
c.137-15T= (n.137-15T=)
c.58T= (p.Tyr20=)
c.137-541T= (n.137-541T=)
c.329-15T= (n.329-15T=)
n.543T=
n.247-15T=
c.-6-15T= (n.-6-15T=)
c.532T= (p.Tyr178=)
c.445T= (p.Tyr149=)
c.298T= (p.Tyr100=)
c.259-15T= (n.259-15T=)
Xg.48511352A>CCA412841898PORCNc.194A>C (p.Tyr65Ser)
n.353A>C
n.376A>C
c.137-14A>C (n.137-14A>C)
c.59A>C (p.Tyr20Ser)
c.137-540A>C (n.137-540A>C)
c.329-14A>C (n.329-14A>C)
n.544A>C
n.247-14A>C
c.-6-14A>C (n.-6-14A>C)
c.533A>C (p.Tyr178Ser)
c.446A>C (p.Tyr149Ser)
c.299A>C (p.Tyr100Ser)
c.259-14A>C (n.259-14A>C)
Xg.48511352A>GCA412841896PORCNc.194A>G (p.Tyr65Cys)
n.353A>G
n.376A>G
c.137-14A>G (n.137-14A>G)
c.59A>G (p.Tyr20Cys)
c.137-540A>G (n.137-540A>G)
c.329-14A>G (n.329-14A>G)
n.544A>G
n.247-14A>G
c.-6-14A>G (n.-6-14A>G)
c.533A>G (p.Tyr178Cys)
c.446A>G (p.Tyr149Cys)
c.299A>G (p.Tyr100Cys)
c.259-14A>G (n.259-14A>G)
 gnomAD v4
Xg.48511352A>TCA412841894PORCNc.194A>T (p.Tyr65Phe)
n.353A>T
n.376A>T
c.137-14A>T (n.137-14A>T)
c.59A>T (p.Tyr20Phe)
c.137-540A>T (n.137-540A>T)
c.329-14A>T (n.329-14A>T)
n.544A>T
n.247-14A>T
c.-6-14A>T (n.-6-14A>T)
c.533A>T (p.Tyr178Phe)
c.446A>T (p.Tyr149Phe)
c.299A>T (p.Tyr100Phe)
c.259-14A>T (n.259-14A>T)
Xg.48511353C>ACA412841902PORCNc.195C>A (p.Tyr65Ter)
n.354C>A
n.377C>A
c.137-13C>A (n.137-13C>A)
c.60C>A (p.Tyr20Ter)
c.137-539C>A (n.137-539C>A)
c.329-13C>A (n.329-13C>A)
n.545C>A
n.247-13C>A
c.-6-13C>A (n.-6-13C>A)
c.534C>A (p.Tyr178Ter)
c.447C>A (p.Tyr149Ter)
c.300C>A (p.Tyr100Ter)
c.259-13C>A (n.259-13C>A)
Xg.48511353C>GCA412841901PORCNc.195C>G (p.Tyr65Ter)
n.354C>G
n.377C>G
c.137-13C>G (n.137-13C>G)
c.60C>G (p.Tyr20Ter)
c.137-539C>G (n.137-539C>G)
c.329-13C>G (n.329-13C>G)
n.545C>G
n.247-13C>G
c.-6-13C>G (n.-6-13C>G)
c.534C>G (p.Tyr178Ter)
c.447C>G (p.Tyr149Ter)
c.300C>G (p.Tyr100Ter)
c.259-13C>G (n.259-13C>G)
Xg.48511353C>TCA516009923PORCNc.195C>T (p.Tyr65=)
n.354C>T
n.377C>T
c.137-13C>T (n.137-13C>T)
c.60C>T (p.Tyr20=)
c.137-539C>T (n.137-539C>T)
c.329-13C>T (n.329-13C>T)
n.545C>T
n.247-13C>T
c.-6-13C>T (n.-6-13C>T)
c.534C>T (p.Tyr178=)
c.447C>T (p.Tyr149=)
c.300C>T (p.Tyr100=)
c.259-13C>T (n.259-13C>T)
Xg.48511354C>ACA412841909PORCNc.196C>A (p.His66Asn)
n.355C>A
n.378C>A
c.137-12C>A (n.137-12C>A)
c.61C>A (p.His21Asn)
c.137-538C>A (n.137-538C>A)
c.329-12C>A (n.329-12C>A)
n.546C>A
n.247-12C>A
c.-6-12C>A (n.-6-12C>A)
c.535C>A (p.His179Asn)
c.448C>A (p.His150Asn)
c.301C>A (p.His101Asn)
c.259-12C>A (n.259-12C>A)
Xg.48511354C>GCA412841905PORCNc.196C>G (p.His66Asp)
n.355C>G
n.378C>G
c.137-12C>G (n.137-12C>G)
c.61C>G (p.His21Asp)
c.137-538C>G (n.137-538C>G)
c.329-12C>G (n.329-12C>G)
n.546C>G
n.247-12C>G
c.-6-12C>G (n.-6-12C>G)
c.535C>G (p.His179Asp)
c.448C>G (p.His150Asp)
c.301C>G (p.His101Asp)
c.259-12C>G (n.259-12C>G)
Xg.48511354C>TCA412841907PORCNc.196C>T (p.His66Tyr)
n.355C>T
n.378C>T
c.137-12C>T (n.137-12C>T)
c.61C>T (p.His21Tyr)
c.137-538C>T (n.137-538C>T)
c.329-12C>T (n.329-12C>T)
n.546C>T
n.247-12C>T
c.-6-12C>T (n.-6-12C>T)
c.535C>T (p.His179Tyr)
c.448C>T (p.His150Tyr)
c.301C>T (p.His101Tyr)
c.259-12C>T (n.259-12C>T)
Xg.48511355A>CCA412841911PORCNc.197A>C (p.His66Pro)
n.356A>C
n.379A>C
c.137-11A>C (n.137-11A>C)
c.62A>C (p.His21Pro)
c.137-537A>C (n.137-537A>C)
c.329-11A>C (n.329-11A>C)
n.547A>C
n.247-11A>C
c.-6-11A>C (n.-6-11A>C)
c.536A>C (p.His179Pro)
c.449A>C (p.His150Pro)
c.302A>C (p.His101Pro)
c.259-11A>C (n.259-11A>C)
Xg.48511355A>GCA412841912PORCNc.197A>G (p.His66Arg)
n.356A>G
n.379A>G
c.137-11A>G (n.137-11A>G)
c.62A>G (p.His21Arg)
c.137-537A>G (n.137-537A>G)
c.329-11A>G (n.329-11A>G)
n.547A>G
n.247-11A>G
c.-6-11A>G (n.-6-11A>G)
c.536A>G (p.His179Arg)
c.449A>G (p.His150Arg)
c.302A>G (p.His101Arg)
c.259-11A>G (n.259-11A>G)
Xg.48511355A>TCA412841914PORCNc.197A>T (p.His66Leu)
n.356A>T
n.379A>T
c.137-11A>T (n.137-11A>T)
c.62A>T (p.His21Leu)
c.137-537A>T (n.137-537A>T)
c.329-11A>T (n.329-11A>T)
n.547A>T
n.247-11A>T
c.-6-11A>T (n.-6-11A>T)
c.536A>T (p.His179Leu)
c.449A>T (p.His150Leu)
c.302A>T (p.His101Leu)
c.259-11A>T (n.259-11A>T)
Xg.48511356C>ACA412841917PORCNc.198C>A (p.His66Gln)
n.357C>A
n.380C>A
c.137-10C>A (n.137-10C>A)
c.63C>A (p.His21Gln)
c.137-536C>A (n.137-536C>A)
c.329-10C>A (n.329-10C>A)
n.548C>A
n.247-10C>A
c.-6-10C>A (n.-6-10C>A)
c.537C>A (p.His179Gln)
c.450C>A (p.His150Gln)
c.303C>A (p.His101Gln)
c.259-10C>A (n.259-10C>A)
Xg.48511356C>GCA412841919PORCNc.198C>G (p.His66Gln)
n.357C>G
n.380C>G
c.137-10C>G (n.137-10C>G)
c.63C>G (p.His21Gln)
c.137-536C>G (n.137-536C>G)
c.329-10C>G (n.329-10C>G)
n.548C>G
n.247-10C>G
c.-6-10C>G (n.-6-10C>G)
c.537C>G (p.His179Gln)
c.450C>G (p.His150Gln)
c.303C>G (p.His101Gln)
c.259-10C>G (n.259-10C>G)
Xg.48511356C>TCA516009932PORCNc.198C>T (p.His66=)
n.357C>T
n.380C>T
c.137-10C>T (n.137-10C>T)
c.63C>T (p.His21=)
c.137-536C>T (n.137-536C>T)
c.329-10C>T (n.329-10C>T)
n.548C>T
n.247-10C>T
c.-6-10C>T (n.-6-10C>T)
c.537C>T (p.His179=)
c.450C>T (p.His150=)
c.303C>T (p.His101=)
c.259-10C>T (n.259-10C>T)
Xg.48511357T>ACA412841922PORCNc.199T>A (p.Phe67Ile)
n.358T>A
n.381T>A
c.137-9T>A (n.137-9T>A)
c.64T>A (p.Phe22Ile)
c.137-535T>A (n.137-535T>A)
c.329-9T>A (n.329-9T>A)
n.549T>A
n.247-9T>A
c.-6-9T>A (n.-6-9T>A)
c.538T>A (p.Phe180Ile)
c.451T>A (p.Phe151Ile)
c.304T>A (p.Phe102Ile)
c.259-9T>A (n.259-9T>A)
Xg.48511357T>CCA412841924PORCNc.199T>C (p.Phe67Leu)
n.358T>C
n.381T>C
c.137-9T>C (n.137-9T>C)
c.64T>C (p.Phe22Leu)
c.137-535T>C (n.137-535T>C)
c.329-9T>C (n.329-9T>C)
n.549T>C
n.247-9T>C
c.-6-9T>C (n.-6-9T>C)
c.538T>C (p.Phe180Leu)
c.451T>C (p.Phe151Leu)
c.304T>C (p.Phe102Leu)
c.259-9T>C (n.259-9T>C)
Xg.48511357T>GCA412841926PORCNc.199T>G (p.Phe67Val)
n.358T>G
n.381T>G
c.137-9T>G (n.137-9T>G)
c.64T>G (p.Phe22Val)
c.137-535T>G (n.137-535T>G)
c.329-9T>G (n.329-9T>G)
n.549T>G
n.247-9T>G
c.-6-9T>G (n.-6-9T>G)
c.538T>G (p.Phe180Val)
c.451T>G (p.Phe151Val)
c.304T>G (p.Phe102Val)
c.259-9T>G (n.259-9T>G)
Xg.48511358T>ACA412841927PORCNc.200T>A (p.Phe67Tyr)
n.359T>A
n.382T>A
c.137-8T>A (n.137-8T>A)
c.65T>A (p.Phe22Tyr)
c.137-534T>A (n.137-534T>A)
c.329-8T>A (n.329-8T>A)
n.550T>A
n.247-8T>A
c.-6-8T>A (n.-6-8T>A)
c.539T>A (p.Phe180Tyr)
c.452T>A (p.Phe151Tyr)
c.305T>A (p.Phe102Tyr)
c.259-8T>A (n.259-8T>A)
Xg.48511358T>CCA412841929PORCNc.200T>C (p.Phe67Ser)
n.359T>C
n.382T>C
c.137-8T>C (n.137-8T>C)
c.65T>C (p.Phe22Ser)
c.137-534T>C (n.137-534T>C)
c.329-8T>C (n.329-8T>C)
n.550T>C
n.247-8T>C
c.-6-8T>C (n.-6-8T>C)
c.539T>C (p.Phe180Ser)
c.452T>C (p.Phe151Ser)
c.305T>C (p.Phe102Ser)
c.259-8T>C (n.259-8T>C)
Xg.48511358T>GCA412841931PORCNc.200T>G (p.Phe67Cys)
n.359T>G
n.382T>G
c.137-8T>G (n.137-8T>G)
c.65T>G (p.Phe22Cys)
c.137-534T>G (n.137-534T>G)
c.329-8T>G (n.329-8T>G)
n.550T>G
n.247-8T>G
c.-6-8T>G (n.-6-8T>G)
c.539T>G (p.Phe180Cys)
c.452T>G (p.Phe151Cys)
c.305T>G (p.Phe102Cys)
c.259-8T>G (n.259-8T>G)
Xg.48511359C>ACA412841933PORCNc.201C>A (p.Phe67Leu)
n.360C>A
n.383C>A
c.137-7C>A (n.137-7C>A)
c.66C>A (p.Phe22Leu)
c.137-533C>A (n.137-533C>A)
c.329-7C>A (n.329-7C>A)
n.551C>A
n.247-7C>A
c.-6-7C>A (n.-6-7C>A)
c.540C>A (p.Phe180Leu)
c.453C>A (p.Phe151Leu)
c.306C>A (p.Phe102Leu)
c.259-7C>A (n.259-7C>A)
 ClinVar COSMIC
Xg.48511359C>GCA412841935PORCNc.201C>G (p.Phe67Leu)
n.360C>G
n.383C>G
c.137-7C>G (n.137-7C>G)
c.66C>G (p.Phe22Leu)
c.137-533C>G (n.137-533C>G)
c.329-7C>G (n.329-7C>G)
n.551C>G
n.247-7C>G
c.-6-7C>G (n.-6-7C>G)
c.540C>G (p.Phe180Leu)
c.453C>G (p.Phe151Leu)
c.306C>G (p.Phe102Leu)
c.259-7C>G (n.259-7C>G)
Xg.48511359C>TCA516009955PORCNc.201C>T (p.Phe67=)
n.360C>T
n.383C>T
c.137-7C>T (n.137-7C>T)
c.66C>T (p.Phe22=)
c.137-533C>T (n.137-533C>T)
c.329-7C>T (n.329-7C>T)
n.551C>T
n.247-7C>T
c.-6-7C>T (n.-6-7C>T)
c.540C>T (p.Phe180=)
c.453C>T (p.Phe151=)
c.306C>T (p.Phe102=)
c.259-7C>T (n.259-7C>T)
Xg.48511360T>ACA412841937PORCNc.202T>A (p.Phe68Ile)
n.361T>A
n.384T>A
c.137-6T>A (n.137-6T>A)
c.67T>A (p.Phe23Ile)
c.137-532T>A (n.137-532T>A)
c.329-6T>A (n.329-6T>A)
n.552T>A
n.247-6T>A
c.-6-6T>A (n.-6-6T>A)
c.541T>A (p.Phe181Ile)
c.454T>A (p.Phe152Ile)
c.307T>A (p.Phe103Ile)
c.259-6T>A (n.259-6T>A)
Xg.48511360T>CCA412841939PORCNc.202T>C (p.Phe68Leu)
n.361T>C
n.384T>C
c.137-6T>C (n.137-6T>C)
c.67T>C (p.Phe23Leu)
c.137-532T>C (n.137-532T>C)
c.329-6T>C (n.329-6T>C)
n.552T>C
n.247-6T>C
c.-6-6T>C (n.-6-6T>C)
c.541T>C (p.Phe181Leu)
c.454T>C (p.Phe152Leu)
c.307T>C (p.Phe103Leu)
c.259-6T>C (n.259-6T>C)
Xg.48511360T>GCA412841941PORCNc.202T>G (p.Phe68Val)
n.361T>G
n.384T>G
c.137-6T>G (n.137-6T>G)
c.67T>G (p.Phe23Val)
c.137-532T>G (n.137-532T>G)
c.329-6T>G (n.329-6T>G)
n.552T>G
n.247-6T>G
c.-6-6T>G (n.-6-6T>G)
c.541T>G (p.Phe181Val)
c.454T>G (p.Phe152Val)
c.307T>G (p.Phe103Val)
c.259-6T>G (n.259-6T>G)
Xg.48511361T>ACA412841944PORCNc.203T>A (p.Phe68Tyr)
n.362T>A
n.385T>A
c.137-5T>A (n.137-5T>A)
c.68T>A (p.Phe23Tyr)
c.137-531T>A (n.137-531T>A)
c.329-5T>A (n.329-5T>A)
n.553T>A
n.247-5T>A
c.-6-5T>A (n.-6-5T>A)
c.542T>A (p.Phe181Tyr)
c.455T>A (p.Phe152Tyr)
c.308T>A (p.Phe103Tyr)
c.259-5T>A (n.259-5T>A)
Xg.48511361T>CCA412841946PORCNc.203T>C (p.Phe68Ser)
n.362T>C
n.385T>C
c.137-5T>C (n.137-5T>C)
c.68T>C (p.Phe23Ser)
c.137-531T>C (n.137-531T>C)
c.329-5T>C (n.329-5T>C)
n.553T>C
n.247-5T>C
c.-6-5T>C (n.-6-5T>C)
c.542T>C (p.Phe181Ser)
c.455T>C (p.Phe152Ser)
c.308T>C (p.Phe103Ser)
c.259-5T>C (n.259-5T>C)
Xg.48511361T>GCA412841948PORCNc.203T>G (p.Phe68Cys)
n.362T>G
n.385T>G
c.137-5T>G (n.137-5T>G)
c.68T>G (p.Phe23Cys)
c.137-531T>G (n.137-531T>G)
c.329-5T>G (n.329-5T>G)
n.553T>G
n.247-5T>G
c.-6-5T>G (n.-6-5T>G)
c.542T>G (p.Phe181Cys)
c.455T>G (p.Phe152Cys)
c.308T>G (p.Phe103Cys)
c.259-5T>G (n.259-5T>G)
Xg.48511362C>ACA412841951PORCNc.204C>A (p.Phe68Leu)
n.363C>A
n.386C>A
c.137-4C>A (n.137-4C>A)
c.69C>A (p.Phe23Leu)
c.137-530C>A (n.137-530C>A)
c.329-4C>A (n.329-4C>A)
n.554C>A
n.247-4C>A
c.-6-4C>A (n.-6-4C>A)
c.543C>A (p.Phe181Leu)
c.456C>A (p.Phe152Leu)
c.309C>A (p.Phe103Leu)
c.259-4C>A (n.259-4C>A)
Xg.48511362C>GCA412841953PORCNc.204C>G (p.Phe68Leu)
n.363C>G
n.386C>G
c.137-4C>G (n.137-4C>G)
c.69C>G (p.Phe23Leu)
c.137-530C>G (n.137-530C>G)
c.329-4C>G (n.329-4C>G)
n.554C>G
n.247-4C>G
c.-6-4C>G (n.-6-4C>G)
c.543C>G (p.Phe181Leu)
c.456C>G (p.Phe152Leu)
c.309C>G (p.Phe103Leu)
c.259-4C>G (n.259-4C>G)
Xg.48511362C>TCA516009969PORCNc.204C>T (p.Phe68=)
n.363C>T
n.386C>T
c.137-4C>T (n.137-4C>T)
c.69C>T (p.Phe23=)
c.137-530C>T (n.137-530C>T)
c.329-4C>T (n.329-4C>T)
n.554C>T
n.247-4C>T
c.-6-4C>T (n.-6-4C>T)
c.543C>T (p.Phe181=)
c.456C>T (p.Phe152=)
c.309C>T (p.Phe103=)
c.259-4C>T (n.259-4C>T)
Xg.48511363C>ACA412841955PORCNc.205C>A (p.Gln69Lys)
n.364C>A
n.387C>A
c.137-3C>A (n.137-3C>A)
c.70C>A (p.Gln24Lys)
c.137-529C>A (n.137-529C>A)
c.329-3C>A (n.329-3C>A)
n.555C>A
n.247-3C>A
c.-6-3C>A (n.-6-3C>A)
c.544C>A (p.Gln182Lys)
c.457C>A (p.Gln153Lys)
c.310C>A (p.Gln104Lys)
c.259-3C>A (n.259-3C>A)
Xg.48511363C>GCA412841956PORCNc.205C>G (p.Gln69Glu)
n.364C>G
n.387C>G
c.137-3C>G (n.137-3C>G)
c.70C>G (p.Gln24Glu)
c.137-529C>G (n.137-529C>G)
c.329-3C>G (n.329-3C>G)
n.555C>G
n.247-3C>G
c.-6-3C>G (n.-6-3C>G)
c.544C>G (p.Gln182Glu)
c.457C>G (p.Gln153Glu)
c.310C>G (p.Gln104Glu)
c.259-3C>G (n.259-3C>G)
Xg.48511363C>TCA412841958PORCNc.205C>T (p.Gln69Ter)
n.364C>T
n.387C>T
c.137-3C>T (n.137-3C>T)
c.70C>T (p.Gln24Ter)
c.137-529C>T (n.137-529C>T)
c.329-3C>T (n.329-3C>T)
n.555C>T
n.247-3C>T
c.-6-3C>T (n.-6-3C>T)
c.544C>T (p.Gln182Ter)
c.457C>T (p.Gln153Ter)
c.310C>T (p.Gln104Ter)
c.259-3C>T (n.259-3C>T)
Xg.48511364A>CCA412841961PORCNc.206A>C (p.Gln69Pro)
n.365A>C
n.388A>C
c.137-2A>C (n.137-2A>C)
c.71A>C (p.Gln24Pro)
c.137-528A>C (n.137-528A>C)
c.329-2A>C (n.329-2A>C)
n.556A>C
n.247-2A>C
c.-6-2A>C (n.-6-2A>C)
c.545A>C (p.Gln182Pro)
c.458A>C (p.Gln153Pro)
c.311A>C (p.Gln104Pro)
c.259-2A>C (n.259-2A>C)
Xg.48511364A>GCA412841962PORCNc.206A>G (p.Gln69Arg)
n.365A>G
n.388A>G
c.137-2A>G (n.137-2A>G)
c.71A>G (p.Gln24Arg)
c.137-528A>G (n.137-528A>G)
c.329-2A>G (n.329-2A>G)
n.556A>G
n.247-2A>G
c.-6-2A>G (n.-6-2A>G)
c.545A>G (p.Gln182Arg)
c.458A>G (p.Gln153Arg)
c.311A>G (p.Gln104Arg)
c.259-2A>G (n.259-2A>G)
Xg.48511364A>TCA412841960PORCNc.206A>T (p.Gln69Leu)
n.365A>T
n.388A>T
c.137-2A>T (n.137-2A>T)
c.71A>T (p.Gln24Leu)
c.137-528A>T (n.137-528A>T)
c.329-2A>T (n.329-2A>T)
n.556A>T
n.247-2A>T
c.-6-2A>T (n.-6-2A>T)
c.545A>T (p.Gln182Leu)
c.458A>T (p.Gln153Leu)
c.311A>T (p.Gln104Leu)
c.259-2A>T (n.259-2A>T)
Xg.48511365G>ACA516009981PORCNc.207G>A (p.Gln69=)
n.366G>A
n.389G>A
c.137-1G>A (n.137-1G>A)
c.72G>A (p.Gln24=)
c.137-527G>A (n.137-527G>A)
c.329-1G>A (n.329-1G>A)
n.557G>A
n.247-1G>A
c.-6-1G>A (n.-6-1G>A)
c.546G>A (p.Gln182=)
c.459G>A (p.Gln153=)
c.312G>A (p.Gln104=)
c.259-1G>A (n.259-1G>A)
Xg.48511365G>CCA412841963PORCNc.207G>C (p.Gln69His)
n.366G>C
n.389G>C
c.137-1G>C (n.137-1G>C)
c.72G>C (p.Gln24His)
c.137-527G>C (n.137-527G>C)
c.329-1G>C (n.329-1G>C)
n.557G>C
n.247-1G>C
c.-6-1G>C (n.-6-1G>C)
c.546G>C (p.Gln182His)
c.459G>C (p.Gln153His)
c.312G>C (p.Gln104His)
c.259-1G>C (n.259-1G>C)
Xg.48511365G>TCA412841964PORCNc.207G>T (p.Gln69His)
n.366G>T
n.389G>T
c.137-1G>T (n.137-1G>T)
c.72G>T (p.Gln24His)
c.137-527G>T (n.137-527G>T)
c.329-1G>T (n.329-1G>T)
n.557G>T
n.247-1G>T
c.-6-1G>T (n.-6-1G>T)
c.546G>T (p.Gln182His)
c.459G>T (p.Gln153His)
c.312G>T (p.Gln104His)
c.259-1G>T (n.259-1G>T)
Xg.48511366C>ACA412841966PORCNc.208C>A (p.Leu70Met)
n.367C>A
n.390C>A
c.137C>A (p.Ala46Asp)
c.73C>A (p.Leu25Met)
c.137-526C>A (n.137-526C>A)
c.329C>A (p.Ala110Asp)
n.558C>A
n.247C>A
c.-6C>A (n.-6C>A)
c.547C>A (p.Leu183Met)
c.460C>A (p.Leu154Met)
c.313C>A (p.Leu105Met)
c.259C>A (p.Leu87Met)
Xg.48511366C>GCA412841968PORCNc.208C>G (p.Leu70Val)
n.367C>G
n.390C>G
c.137C>G (p.Ala46Gly)
c.73C>G (p.Leu25Val)
c.137-526C>G (n.137-526C>G)
c.329C>G (p.Ala110Gly)
n.558C>G
n.247C>G
c.-6C>G (n.-6C>G)
c.547C>G (p.Leu183Val)
c.460C>G (p.Leu154Val)
c.313C>G (p.Leu105Val)
c.259C>G (p.Leu87Val)
Xg.48511366C>TCA516009985PORCNc.208C>T (p.Leu70=)
n.367C>T
n.390C>T
c.137C>T (p.Ala46Val)
c.73C>T (p.Leu25=)
c.137-526C>T (n.137-526C>T)
c.329C>T (p.Ala110Val)
n.558C>T
n.247C>T
c.-6C>T (n.-6C>T)
c.547C>T (p.Leu183=)
c.460C>T (p.Leu154=)
c.313C>T (p.Leu105=)
c.259C>T (p.Leu87=)
Xg.48511367T>ACA412841971PORCNc.209T>A (p.Leu70Gln)
n.368T>A
n.391T>A
c.138T>A (p.Ala46=)
c.74T>A (p.Leu25Gln)
c.137-525T>A (n.137-525T>A)
c.330T>A (p.Ala110=)
n.559T>A
n.248T>A
c.-5T>A (n.-5T>A)
c.548T>A (p.Leu183Gln)
c.461T>A (p.Leu154Gln)
c.314T>A (p.Leu105Gln)
c.260T>A (p.Leu87Gln)
Xg.48511367T>CCA412841972PORCNc.209T>C (p.Leu70Pro)
n.368T>C
n.391T>C
c.138T>C (p.Ala46=)
c.74T>C (p.Leu25Pro)
c.137-525T>C (n.137-525T>C)
c.330T>C (p.Ala110=)
n.559T>C
n.248T>C
c.-5T>C (n.-5T>C)
c.548T>C (p.Leu183Pro)
c.461T>C (p.Leu154Pro)
c.314T>C (p.Leu105Pro)
c.260T>C (p.Leu87Pro)
Xg.48511367T>GCA10402710PORCNc.209T>G (p.Leu70Arg)
n.368T>G
n.391T>G
c.138T>G (p.Ala46=)
c.74T>G (p.Leu25Arg)
c.137-525T>G (n.137-525T>G)
c.330T>G (p.Ala110=)
n.559T>G
n.248T>G
c.-5T>G (n.-5T>G)
c.548T>G (p.Leu183Arg)
c.461T>G (p.Leu154Arg)
c.314T>G (p.Leu105Arg)
c.260T>G (p.Leu87Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.48511367T=CA2428293301PORCNc.209T= (p.Leu70=)
n.368T=
n.391T=
c.138T= (p.Ala46=)
c.74T= (p.Leu25=)
c.137-525T= (n.137-525T=)
c.330T= (p.Ala110=)
n.559T=
n.248T=
c.-5T= (n.-5T=)
c.548T= (p.Leu183=)
c.461T= (p.Leu154=)
c.314T= (p.Leu105=)
c.260T= (p.Leu87=)
Xg.48511368G>ACA516009992PORCNc.210G>A (p.Leu70=)
n.369G>A
n.392G>A
c.139G>A (p.Ala47Thr)
c.75G>A (p.Leu25=)
c.137-524G>A (n.137-524G>A)
c.331G>A (p.Ala111Thr)
n.560G>A
n.249G>A
c.-4G>A (n.-4G>A)
c.549G>A (p.Leu183=)
c.462G>A (p.Leu154=)
c.315G>A (p.Leu105=)
c.261G>A (p.Leu87=)
 gnomAD v4
Xg.48511368G>CCA516009994PORCNc.210G>C (p.Leu70=)
n.369G>C
n.392G>C
c.139G>C (p.Ala47Pro)
c.75G>C (p.Leu25=)
c.137-524G>C (n.137-524G>C)
c.331G>C (p.Ala111Pro)
n.560G>C
n.249G>C
c.-4G>C (n.-4G>C)
c.549G>C (p.Leu183=)
c.462G>C (p.Leu154=)
c.315G>C (p.Leu105=)
c.261G>C (p.Leu87=)
Xg.48511368G>TCA516009996PORCNc.210G>T (p.Leu70=)
n.369G>T
n.392G>T
c.139G>T (p.Ala47Ser)
c.75G>T (p.Leu25=)
c.137-524G>T (n.137-524G>T)
c.331G>T (p.Ala111Ser)
n.560G>T
n.249G>T
c.-4G>T (n.-4G>T)
c.549G>T (p.Leu183=)
c.462G>T (p.Leu154=)
c.315G>T (p.Leu105=)
c.261G>T (p.Leu87=)
Xg.48511369C>ACA412841974PORCNc.211C>A (p.His71Asn)
n.370C>A
n.393C>A
c.140C>A (p.Ala47Glu)
c.76C>A (p.His26Asn)
c.137-523C>A (n.137-523C>A)
c.332C>A (p.Ala111Glu)
n.561C>A
n.250C>A
c.-3C>A (n.-3C>A)
c.550C>A (p.His184Asn)
c.463C>A (p.His155Asn)
c.316C>A (p.His106Asn)
c.262C>A (p.His88Asn)
Xg.48511369C>GCA412841976PORCNc.211C>G (p.His71Asp)
n.370C>G
n.393C>G
c.140C>G (p.Ala47Gly)
c.76C>G (p.His26Asp)
c.137-523C>G (n.137-523C>G)
c.332C>G (p.Ala111Gly)
n.561C>G
n.250C>G
c.-3C>G (n.-3C>G)
c.550C>G (p.His184Asp)
c.463C>G (p.His155Asp)
c.316C>G (p.His106Asp)
c.262C>G (p.His88Asp)
Xg.48511369C>TCA412841977PORCNc.211C>T (p.His71Tyr)
n.370C>T
n.393C>T
c.140C>T (p.Ala47Val)
c.76C>T (p.His26Tyr)
c.137-523C>T (n.137-523C>T)
c.332C>T (p.Ala111Val)
n.561C>T
n.250C>T
c.-3C>T (n.-3C>T)
c.550C>T (p.His184Tyr)
c.463C>T (p.His155Tyr)
c.316C>T (p.His106Tyr)
c.262C>T (p.His88Tyr)
Xg.48511370A>CCA412841979PORCNc.212A>C (p.His71Pro)
n.371A>C
n.394A>C
c.141A>C (p.Ala47=)
c.77A>C (p.His26Pro)
c.137-522A>C (n.137-522A>C)
c.333A>C (p.Ala111=)
n.562A>C
n.251A>C
c.-2A>C (n.-2A>C)
c.551A>C (p.His184Pro)
c.464A>C (p.His155Pro)
c.317A>C (p.His106Pro)
c.263A>C (p.His88Pro)
Xg.48511370A>GCA412841981PORCNc.212A>G (p.His71Arg)
n.371A>G
n.394A>G
c.141A>G (p.Ala47=)
c.77A>G (p.His26Arg)
c.137-522A>G (n.137-522A>G)
c.333A>G (p.Ala111=)
n.562A>G
n.251A>G
c.-2A>G (n.-2A>G)
c.551A>G (p.His184Arg)
c.464A>G (p.His155Arg)
c.317A>G (p.His106Arg)
c.263A>G (p.His88Arg)
Xg.48511370A>TCA412841983PORCNc.212A>T (p.His71Leu)
n.371A>T
n.394A>T
c.141A>T (p.Ala47=)
c.77A>T (p.His26Leu)
c.137-522A>T (n.137-522A>T)
c.333A>T (p.Ala111=)
n.562A>T
n.251A>T
c.-2A>T (n.-2A>T)
c.551A>T (p.His184Leu)
c.464A>T (p.His155Leu)
c.317A>T (p.His106Leu)
c.263A>T (p.His88Leu)
Xg.48511371C>ACA412841986PORCNc.213C>A (p.His71Gln)
n.372C>A
n.395C>A
c.142C>A (p.His48Asn)
c.78C>A (p.His26Gln)
c.137-521C>A (n.137-521C>A)
c.334C>A (p.His112Asn)
n.563C>A
n.252C>A
c.-1C>A (n.-1C>A)
c.552C>A (p.His184Gln)
c.465C>A (p.His155Gln)
c.318C>A (p.His106Gln)
c.264C>A (p.His88Gln)
Xg.48511371C>GCA412841985PORCNc.213C>G (p.His71Gln)
n.372C>G
n.395C>G
c.142C>G (p.His48Asp)
c.78C>G (p.His26Gln)
c.137-521C>G (n.137-521C>G)
c.334C>G (p.His112Asp)
n.563C>G
n.252C>G
c.-1C>G (n.-1C>G)
c.552C>G (p.His184Gln)
c.465C>G (p.His155Gln)
c.318C>G (p.His106Gln)
c.264C>G (p.His88Gln)
Xg.48511371C>TCA516010009PORCNc.213C>T (p.His71=)
n.372C>T
n.395C>T
c.142C>T (p.His48Tyr)
c.78C>T (p.His26=)
c.137-521C>T (n.137-521C>T)
c.334C>T (p.His112Tyr)
n.563C>T
n.252C>T
c.-1C>T (n.-1C>T)
c.552C>T (p.His184=)
c.465C>T (p.His155=)
c.318C>T (p.His106=)
c.264C>T (p.His88=)
Xg.48511372A>CCA412841988PORCNc.214A>C (p.Met72Leu)
n.373A>C
n.396A>C
c.143A>C (p.His48Pro)
c.79A>C (p.Met27Leu)
c.137-520A>C (n.137-520A>C)
c.335A>C (p.His112Pro)
n.564A>C
n.253A>C
c.1A>C (p.Met1Leu)
c.553A>C (p.Met185Leu)
c.466A>C (p.Met156Leu)
c.319A>C (p.Met107Leu)
c.265A>C (p.Met89Leu)
Xg.48511372A>GCA412841990PORCNc.214A>G (p.Met72Val)
n.373A>G
n.396A>G
c.143A>G (p.His48Arg)
c.79A>G (p.Met27Val)
c.137-520A>G (n.137-520A>G)
c.335A>G (p.His112Arg)
n.564A>G
n.253A>G
c.1A>G (p.Met1Val)
c.553A>G (p.Met185Val)
c.466A>G (p.Met156Val)
c.319A>G (p.Met107Val)
c.265A>G (p.Met89Val)
Xg.48511372A>TCA412841992PORCNc.214A>T (p.Met72Leu)
n.373A>T
n.396A>T
c.143A>T (p.His48Leu)
c.79A>T (p.Met27Leu)
c.137-520A>T (n.137-520A>T)
c.335A>T (p.His112Leu)
n.564A>T
n.253A>T
c.1A>T (p.Met1Leu)
c.553A>T (p.Met185Leu)
c.466A>T (p.Met156Leu)
c.319A>T (p.Met107Leu)
c.265A>T (p.Met89Leu)
Xg.48511373T>ACA412841994PORCNc.215T>A (p.Met72Lys)
n.374T>A
n.397T>A
c.144T>A (p.His48Gln)
c.80T>A (p.Met27Lys)
c.137-519T>A (n.137-519T>A)
c.336T>A (p.His112Gln)
n.565T>A
n.254T>A
c.2T>A (p.Met1Lys)
c.554T>A (p.Met185Lys)
c.467T>A (p.Met156Lys)
c.320T>A (p.Met107Lys)
c.266T>A (p.Met89Lys)
Xg.48511373T>CCA412841995PORCNc.215T>C (p.Met72Thr)
n.374T>C
n.397T>C
c.144T>C (p.His48=)
c.80T>C (p.Met27Thr)
c.137-519T>C (n.137-519T>C)
c.336T>C (p.His112=)
n.565T>C
n.254T>C
c.2T>C (p.Met1Thr)
c.554T>C (p.Met185Thr)
c.467T>C (p.Met156Thr)
c.320T>C (p.Met107Thr)
c.266T>C (p.Met89Thr)
Xg.48511373T>GCA412841997PORCNc.215T>G (p.Met72Arg)
n.374T>G
n.397T>G
c.144T>G (p.His48Gln)
c.80T>G (p.Met27Arg)
c.137-519T>G (n.137-519T>G)
c.336T>G (p.His112Gln)
n.565T>G
n.254T>G
c.2T>G (p.Met1Arg)
c.554T>G (p.Met185Arg)
c.467T>G (p.Met156Arg)
c.320T>G (p.Met107Arg)
c.266T>G (p.Met89Arg)
Xg.48511374G>ACA412842002PORCNc.216G>A (p.Met72Ile)
n.375G>A
n.398G>A
c.145G>A (p.Gly49Ser)
c.81G>A (p.Met27Ile)
c.137-518G>A (n.137-518G>A)
c.337G>A (p.Gly113Ser)
n.566G>A
n.255G>A
c.3G>A (p.Met1Ile)
c.555G>A (p.Met185Ile)
c.468G>A (p.Met156Ile)
c.321G>A (p.Met107Ile)
c.267G>A (p.Met89Ile)
Xg.48511374G>CCA412842000PORCNc.216G>C (p.Met72Ile)
n.375G>C
n.398G>C
c.145G>C (p.Gly49Arg)
c.81G>C (p.Met27Ile)
c.137-518G>C (n.137-518G>C)
c.337G>C (p.Gly113Arg)
n.566G>C
n.255G>C
c.3G>C (p.Met1Ile)
c.555G>C (p.Met185Ile)
c.468G>C (p.Met156Ile)
c.321G>C (p.Met107Ile)
c.267G>C (p.Met89Ile)
Xg.48511374G>TCA412842001PORCNc.216G>T (p.Met72Ile)
n.375G>T
n.398G>T
c.145G>T (p.Gly49Cys)
c.81G>T (p.Met27Ile)
c.137-518G>T (n.137-518G>T)
c.337G>T (p.Gly113Cys)
n.566G>T
n.255G>T
c.3G>T (p.Met1Ile)
c.555G>T (p.Met185Ile)
c.468G>T (p.Met156Ile)
c.321G>T (p.Met107Ile)
c.267G>T (p.Met89Ile)
Xg.48511375G>ACA412842003PORCNc.217G>A (p.Val73Ile)
n.376G>A
n.399G>A
c.146G>A (p.Gly49Asp)
c.82G>A (p.Val28Ile)
c.137-517G>A (n.137-517G>A)
c.338G>A (p.Gly113Asp)
n.567G>A
n.256G>A
c.4G>A (p.Val2Ile)
c.556G>A (p.Val186Ile)
c.469G>A (p.Val157Ile)
c.322G>A (p.Val108Ile)
c.268G>A (p.Val90Ile)
Xg.48511375G>CCA412842005PORCNc.217G>C (p.Val73Leu)
n.376G>C
n.399G>C
c.146G>C (p.Gly49Ala)
c.82G>C (p.Val28Leu)
c.137-517G>C (n.137-517G>C)
c.338G>C (p.Gly113Ala)
n.567G>C
n.256G>C
c.4G>C (p.Val2Leu)
c.556G>C (p.Val186Leu)
c.469G>C (p.Val157Leu)
c.322G>C (p.Val108Leu)
c.268G>C (p.Val90Leu)
Xg.48511375G>TCA412842007PORCNc.217G>T (p.Val73Phe)
n.376G>T
n.399G>T
c.146G>T (p.Gly49Val)
c.82G>T (p.Val28Phe)
c.137-517G>T (n.137-517G>T)
c.338G>T (p.Gly113Val)
n.567G>T
n.256G>T
c.4G>T (p.Val2Phe)
c.556G>T (p.Val186Phe)
c.469G>T (p.Val157Phe)
c.322G>T (p.Val108Phe)
c.268G>T (p.Val90Phe)
Xg.48511376T>ACA412842009PORCNc.218T>A (p.Val73Asp)
n.377T>A
n.400T>A
c.147T>A (p.Gly49=)
c.83T>A (p.Val28Asp)
c.137-516T>A (n.137-516T>A)
c.339T>A (p.Gly113=)
n.257T>A
c.5T>A (p.Val2Asp)
c.557T>A (p.Val186Asp)
c.470T>A (p.Val157Asp)
c.323T>A (p.Val108Asp)
c.269T>A (p.Val90Asp)
Xg.48511376T>CCA412842010PORCNc.218T>C (p.Val73Ala)
n.377T>C
n.400T>C
c.147T>C (p.Gly49=)
c.83T>C (p.Val28Ala)
c.137-516T>C (n.137-516T>C)
c.339T>C (p.Gly113=)
n.257T>C
c.5T>C (p.Val2Ala)
c.557T>C (p.Val186Ala)
c.470T>C (p.Val157Ala)
c.323T>C (p.Val108Ala)
c.269T>C (p.Val90Ala)
Xg.48511376T>GCA412842011PORCNc.218T>G (p.Val73Gly)
n.377T>G
n.400T>G
c.147T>G (p.Gly49=)
c.83T>G (p.Val28Gly)
c.137-516T>G (n.137-516T>G)
c.339T>G (p.Gly113=)
n.257T>G
c.5T>G (p.Val2Gly)
c.557T>G (p.Val186Gly)
c.470T>G (p.Val157Gly)
c.323T>G (p.Val108Gly)
c.269T>G (p.Val90Gly)
Xg.48511377T>ACA516010035PORCNc.219T>A (p.Val73=)
n.378T>A
n.401T>A
c.148T>A (p.Leu50Met)
c.84T>A (p.Val28=)
c.137-515T>A (n.137-515T>A)
c.340T>A (p.Leu114Met)
n.258T>A
c.6T>A (p.Val2=)
c.558T>A (p.Val186=)
c.471T>A (p.Val157=)
c.324T>A (p.Val108=)
c.270T>A (p.Val90=)
Xg.48511377T>CCA516010037PORCNc.219T>C (p.Val73=)
n.378T>C
n.401T>C
c.148T>C (p.Leu50=)
c.84T>C (p.Val28=)
c.137-515T>C (n.137-515T>C)
c.340T>C (p.Leu114=)
n.258T>C
c.6T>C (p.Val2=)
c.558T>C (p.Val186=)
c.471T>C (p.Val157=)
c.324T>C (p.Val108=)
c.270T>C (p.Val90=)
Xg.48511377T>GCA516010039PORCNc.219T>G (p.Val73=)
n.378T>G
n.401T>G
c.148T>G (p.Leu50Val)
c.84T>G (p.Val28=)
c.137-515T>G (n.137-515T>G)
c.340T>G (p.Leu114Val)
n.258T>G
c.6T>G (p.Val2=)
c.558T>G (p.Val186=)
c.471T>G (p.Val157=)
c.324T>G (p.Val108=)
c.270T>G (p.Val90=)
Xg.48511378T>ACA412842013PORCNc.220T>A (p.Trp74Arg)
n.379T>A
n.402T>A
c.149T>A (p.Leu50Ter)
c.85T>A (p.Trp29Arg)
c.137-514T>A (n.137-514T>A)
c.341T>A (p.Leu114Ter)
n.259T>A
c.7T>A (p.Trp3Arg)
c.559T>A (p.Trp187Arg)
c.472T>A (p.Trp158Arg)
c.325T>A (p.Trp109Arg)
c.271T>A (p.Trp91Arg)
Xg.48511378T>CCA412842014PORCNc.220T>C (p.Trp74Arg)
n.379T>C
n.402T>C
c.149T>C (p.Leu50Ser)
c.85T>C (p.Trp29Arg)
c.137-514T>C (n.137-514T>C)
c.341T>C (p.Leu114Ser)
n.259T>C
c.7T>C (p.Trp3Arg)
c.559T>C (p.Trp187Arg)
c.472T>C (p.Trp158Arg)
c.325T>C (p.Trp109Arg)
c.271T>C (p.Trp91Arg)
Xg.48511378T>GCA412842012PORCNc.220T>G (p.Trp74Gly)
n.379T>G
n.402T>G
c.149T>G (p.Leu50Trp)
c.85T>G (p.Trp29Gly)
c.137-514T>G (n.137-514T>G)
c.341T>G (p.Leu114Trp)
n.259T>G
c.7T>G (p.Trp3Gly)
c.559T>G (p.Trp187Gly)
c.472T>G (p.Trp158Gly)
c.325T>G (p.Trp109Gly)
c.271T>G (p.Trp91Gly)
Xg.48511379G>ACA412842015PORCNc.221G>A (p.Trp74Ter)
n.380G>A
n.403G>A
c.150G>A (p.Leu50=)
c.86G>A (p.Trp29Ter)
c.137-513G>A (n.137-513G>A)
c.342G>A (p.Leu114=)
n.260G>A
c.8G>A (p.Trp3Ter)
c.560G>A (p.Trp187Ter)
c.473G>A (p.Trp158Ter)
c.326G>A (p.Trp109Ter)
c.272G>A (p.Trp91Ter)
Xg.48511379G>CCA412842017PORCNc.221G>C (p.Trp74Ser)
n.380G>C
n.403G>C
c.150G>C (p.Leu50Phe)
c.86G>C (p.Trp29Ser)
c.137-513G>C (n.137-513G>C)
c.342G>C (p.Leu114Phe)
n.260G>C
c.8G>C (p.Trp3Ser)
c.560G>C (p.Trp187Ser)
c.473G>C (p.Trp158Ser)
c.326G>C (p.Trp109Ser)
c.272G>C (p.Trp91Ser)
Xg.48511379G>TCA412842016PORCNc.221G>T (p.Trp74Leu)
n.380G>T
n.403G>T
c.150G>T (p.Leu50Phe)
c.86G>T (p.Trp29Leu)
c.137-513G>T (n.137-513G>T)
c.342G>T (p.Leu114Phe)
n.260G>T
c.8G>T (p.Trp3Leu)
c.560G>T (p.Trp187Leu)
c.473G>T (p.Trp158Leu)
c.326G>T (p.Trp109Leu)
c.272G>T (p.Trp91Leu)
Xg.48511381delCA516010047PORCNc.223del (p.Val75SerfsTer?)
n.382del
n.405del
c.152del (p.Gly51ValfsTer?)
c.88del (p.Val30SerfsTer?)
c.137-511del (n.137-511del)
c.344del (p.Gly115ValfsTer?)
n.262del
c.10del (p.Val4SerfsTer?)
c.562del (p.Val188SerfsTer?)
c.475del (p.Val159SerfsTer?)
c.328del (p.Val110SerfsTer?)
c.274del (p.Val92SerfsTer?)
 COSMIC
Xg.48511380G>ACA255495PORCNc.222G>A (p.Trp74Ter)
n.381G>A
n.404G>A
c.151G>A (p.Gly51Ser)
c.87G>A (p.Trp29Ter)
c.137-512G>A (n.137-512G>A)
c.343G>A (p.Gly115Ser)
n.261G>A
c.9G>A (p.Trp3Ter)
c.561G>A (p.Trp187Ter)
c.474G>A (p.Trp158Ter)
c.327G>A (p.Trp109Ter)
c.273G>A (p.Trp91Ter)
 ClinVar dbSNP
Xg.48511380G>CCA412842019PORCNc.222G>C (p.Trp74Cys)
n.381G>C
n.404G>C
c.151G>C (p.Gly51Arg)
c.87G>C (p.Trp29Cys)
c.137-512G>C (n.137-512G>C)
c.343G>C (p.Gly115Arg)
n.261G>C
c.9G>C (p.Trp3Cys)
c.561G>C (p.Trp187Cys)
c.474G>C (p.Trp158Cys)
c.327G>C (p.Trp109Cys)
c.273G>C (p.Trp91Cys)
Xg.48511380G=CA2428293302PORCNc.222G= (p.Trp74=)
n.381G=
n.404G=
c.151G= (p.Gly51=)
c.87G= (p.Trp29=)
c.137-512G= (n.137-512G=)
c.343G= (p.Gly115=)
n.261G=
c.9G= (p.Trp3=)
c.561G= (p.Trp187=)
c.474G= (p.Trp158=)
c.327G= (p.Trp109=)
c.273G= (p.Trp91=)
Xg.48511380G>TCA412842018PORCNc.222G>T (p.Trp74Cys)
n.381G>T
n.404G>T
c.151G>T (p.Gly51Cys)
c.87G>T (p.Trp29Cys)
c.137-512G>T (n.137-512G>T)
c.343G>T (p.Gly115Cys)
n.261G>T
c.9G>T (p.Trp3Cys)
c.561G>T (p.Trp187Cys)
c.474G>T (p.Trp158Cys)
c.327G>T (p.Trp109Cys)
c.273G>T (p.Trp91Cys)
Xg.48511381G>ACA412842020PORCNc.223G>A (p.Val75Ile)
n.382G>A
n.405G>A
c.152G>A (p.Gly51Asp)
c.88G>A (p.Val30Ile)
c.137-511G>A (n.137-511G>A)
c.344G>A (p.Gly115Asp)
n.262G>A
c.10G>A (p.Val4Ile)
c.562G>A (p.Val188Ile)
c.475G>A (p.Val159Ile)
c.328G>A (p.Val110Ile)
c.274G>A (p.Val92Ile)
 gnomAD v4
Xg.48511381G>CCA412842021PORCNc.223G>C (p.Val75Leu)
n.382G>C
n.405G>C
c.152G>C (p.Gly51Ala)
c.88G>C (p.Val30Leu)
c.137-511G>C (n.137-511G>C)
c.344G>C (p.Gly115Ala)
n.262G>C
c.10G>C (p.Val4Leu)
c.562G>C (p.Val188Leu)
c.475G>C (p.Val159Leu)
c.328G>C (p.Val110Leu)
c.274G>C (p.Val92Leu)
Xg.48511381G>TCA412842022PORCNc.223G>T (p.Val75Phe)
n.382G>T
n.405G>T
c.152G>T (p.Gly51Val)
c.88G>T (p.Val30Phe)
c.137-511G>T (n.137-511G>T)
c.344G>T (p.Gly115Val)
n.262G>T
c.10G>T (p.Val4Phe)
c.562G>T (p.Val188Phe)
c.475G>T (p.Val159Phe)
c.328G>T (p.Val110Phe)
c.274G>T (p.Val92Phe)
Xg.48511382T>ACA412842023PORCNc.224T>A (p.Val75Asp)
n.383T>A
n.406T>A
c.153T>A (p.Gly51=)
c.89T>A (p.Val30Asp)
c.137-510T>A (n.137-510T>A)
c.345T>A (p.Gly115=)
n.263T>A
c.11T>A (p.Val4Asp)
c.563T>A (p.Val188Asp)
c.476T>A (p.Val159Asp)
c.329T>A (p.Val110Asp)
c.275T>A (p.Val92Asp)
Xg.48511382T>CCA412842024PORCNc.224T>C (p.Val75Ala)
n.383T>C
n.406T>C
c.153T>C (p.Gly51=)
c.89T>C (p.Val30Ala)
c.137-510T>C (n.137-510T>C)
c.345T>C (p.Gly115=)
n.263T>C
c.11T>C (p.Val4Ala)
c.563T>C (p.Val188Ala)
c.476T>C (p.Val159Ala)
c.329T>C (p.Val110Ala)
c.275T>C (p.Val92Ala)
Xg.48511382T>GCA412842025PORCNc.224T>G (p.Val75Gly)
n.383T>G
n.406T>G
c.153T>G (p.Gly51=)
c.89T>G (p.Val30Gly)
c.137-510T>G (n.137-510T>G)
c.345T>G (p.Gly115=)
n.263T>G
c.11T>G (p.Val4Gly)
c.563T>G (p.Val188Gly)
c.476T>G (p.Val159Gly)
c.329T>G (p.Val110Gly)
c.275T>G (p.Val92Gly)
Xg.48511383C>ACA516010067PORCNc.225C>A (p.Val75=)
n.384C>A
n.407C>A
c.154C>A (p.Arg52Ser)
c.90C>A (p.Val30=)
c.137-509C>A (n.137-509C>A)
c.346C>A (p.Arg116Ser)
n.264C>A
c.12C>A (p.Val4=)
c.564C>A (p.Val188=)
c.477C>A (p.Val159=)
c.330C>A (p.Val110=)
c.276C>A (p.Val92=)
 dbSNP
Xg.48511383C=CA2428293303PORCNc.225C= (p.Val75=)
n.384C=
n.407C=
c.154C= (p.Arg52=)
c.90C= (p.Val30=)
c.137-509C= (n.137-509C=)
c.346C= (p.Arg116=)
n.264C=
c.12C= (p.Val4=)
c.564C= (p.Val188=)
c.477C= (p.Val159=)
c.330C= (p.Val110=)
c.276C= (p.Val92=)
Xg.48511383C>GCA516010068PORCNc.225C>G (p.Val75=)
n.384C>G
n.407C>G
c.154C>G (p.Arg52Gly)
c.90C>G (p.Val30=)
c.137-509C>G (n.137-509C>G)
c.346C>G (p.Arg116Gly)
n.264C>G
c.12C>G (p.Val4=)
c.564C>G (p.Val188=)
c.477C>G (p.Val159=)
c.330C>G (p.Val110=)
c.276C>G (p.Val92=)
Xg.48511383C>TCA10402711PORCNc.225C>T (p.Val75=)
n.384C>T
n.407C>T
c.154C>T (p.Arg52Cys)
c.90C>T (p.Val30=)
c.137-509C>T (n.137-509C>T)
c.346C>T (p.Arg116Cys)
n.264C>T
c.12C>T (p.Val4=)
c.564C>T (p.Val188=)
c.477C>T (p.Val159=)
c.330C>T (p.Val110=)
c.276C>T (p.Val92=)
 dbSNP ExAC gnomAD v4 COSMIC
Xg.48511384G>ACA412842026PORCNc.226G>A (p.Val76Met)
n.385G>A
n.408G>A
c.155G>A (p.Arg52His)
c.91G>A (p.Val31Met)
c.137-508G>A (n.137-508G>A)
c.347G>A (p.Arg116His)
n.265G>A
c.13G>A (p.Val5Met)
c.565G>A (p.Val189Met)
c.478G>A (p.Val160Met)
c.331G>A (p.Val111Met)
c.277G>A (p.Val93Met)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
Xg.48511384G>CCA412842027PORCNc.226G>C (p.Val76Leu)
n.385G>C
n.408G>C
c.155G>C (p.Arg52Pro)
c.91G>C (p.Val31Leu)
c.137-508G>C (n.137-508G>C)
c.347G>C (p.Arg116Pro)
n.265G>C
c.13G>C (p.Val5Leu)
c.565G>C (p.Val189Leu)
c.478G>C (p.Val160Leu)
c.331G>C (p.Val111Leu)
c.277G>C (p.Val93Leu)
Xg.48511384G=CA2428293304PORCNc.226G= (p.Val76=)
n.385G=
n.408G=
c.155G= (p.Arg52=)
c.91G= (p.Val31=)
c.137-508G= (n.137-508G=)
c.347G= (p.Arg116=)
n.265G=
c.13G= (p.Val5=)
c.565G= (p.Val189=)
c.478G= (p.Val160=)
c.331G= (p.Val111=)
c.277G= (p.Val93=)
Xg.48511384G>TCA412842028PORCNc.226G>T (p.Val76Leu)
n.385G>T
n.408G>T
c.155G>T (p.Arg52Leu)
c.91G>T (p.Val31Leu)
c.137-508G>T (n.137-508G>T)
c.347G>T (p.Arg116Leu)
n.265G>T
c.13G>T (p.Val5Leu)
c.565G>T (p.Val189Leu)
c.478G>T (p.Val160Leu)
c.331G>T (p.Val111Leu)
c.277G>T (p.Val93Leu)
Xg.48511385T>ACA412842030PORCNc.227T>A (p.Val76Glu)
n.386T>A
n.409T>A
c.156T>A (p.Arg52=)
c.92T>A (p.Val31Glu)
c.137-507T>A (n.137-507T>A)
c.348T>A (p.Arg116=)
n.266T>A
c.14T>A (p.Val5Glu)
c.566T>A (p.Val189Glu)
c.479T>A (p.Val160Glu)
c.332T>A (p.Val111Glu)
c.278T>A (p.Val93Glu)
Xg.48511385T>CCA412842032PORCNc.227T>C (p.Val76Ala)
n.386T>C
n.409T>C
c.156T>C (p.Arg52=)
c.92T>C (p.Val31Ala)
c.137-507T>C (n.137-507T>C)
c.348T>C (p.Arg116=)
n.266T>C
c.14T>C (p.Val5Ala)
c.566T>C (p.Val189Ala)
c.479T>C (p.Val160Ala)
c.332T>C (p.Val111Ala)
c.278T>C (p.Val93Ala)
Xg.48511385T>GCA412842033PORCNc.227T>G (p.Val76Gly)
n.386T>G
n.409T>G
c.156T>G (p.Arg52=)
c.92T>G (p.Val31Gly)
c.137-507T>G (n.137-507T>G)
c.348T>G (p.Arg116=)
n.266T>G
c.14T>G (p.Val5Gly)
c.566T>G (p.Val189Gly)
c.479T>G (p.Val160Gly)
c.332T>G (p.Val111Gly)
c.278T>G (p.Val93Gly)
Xg.48511386G>ACA516010087PORCNc.228G>A (p.Val76=)
n.387G>A
n.410G>A
c.157G>A (p.Ala53Thr)
c.93G>A (p.Val31=)
c.137-506G>A (n.137-506G>A)
c.349G>A (p.Ala117Thr)
n.267G>A
c.15G>A (p.Val5=)
c.567G>A (p.Val189=)
c.480G>A (p.Val160=)
c.333G>A (p.Val111=)
c.279G>A (p.Val93=)
Xg.48511386G>CCA516010085PORCNc.228G>C (p.Val76=)
n.387G>C
n.410G>C
c.157G>C (p.Ala53Pro)
c.93G>C (p.Val31=)
c.137-506G>C (n.137-506G>C)
c.349G>C (p.Ala117Pro)
n.267G>C
c.15G>C (p.Val5=)
c.567G>C (p.Val189=)
c.480G>C (p.Val160=)
c.333G>C (p.Val111=)
c.279G>C (p.Val93=)
Xg.48511386G>TCA516010083PORCNc.228G>T (p.Val76=)
n.387G>T
n.410G>T
c.157G>T (p.Ala53Ser)
c.93G>T (p.Val31=)
c.137-506G>T (n.137-506G>T)
c.349G>T (p.Ala117Ser)
n.267G>T
c.15G>T (p.Val5=)
c.567G>T (p.Val189=)
c.480G>T (p.Val160=)
c.333G>T (p.Val111=)
c.279G>T (p.Val93=)
Xg.48511387C>ACA412842035PORCNc.229C>A (p.Leu77Met)
n.388C>A
n.411C>A
c.158C>A (p.Ala53Asp)
c.94C>A (p.Leu32Met)
c.137-505C>A (n.137-505C>A)
c.350C>A (p.Ala117Asp)
n.268C>A
c.16C>A (p.Leu6Met)
c.568C>A (p.Leu190Met)
c.481C>A (p.Leu161Met)
c.334C>A (p.Leu112Met)
c.280C>A (p.Leu94Met)
Xg.48511387C>GCA412842037PORCNc.229C>G (p.Leu77Val)
n.388C>G
n.411C>G
c.158C>G (p.Ala53Gly)
c.94C>G (p.Leu32Val)
c.137-505C>G (n.137-505C>G)
c.350C>G (p.Ala117Gly)
n.268C>G
c.16C>G (p.Leu6Val)
c.568C>G (p.Leu190Val)
c.481C>G (p.Leu161Val)
c.334C>G (p.Leu112Val)
c.280C>G (p.Leu94Val)
Xg.48511387C>TCA516010090PORCNc.229C>T (p.Leu77=)
n.388C>T
n.411C>T
c.158C>T (p.Ala53Val)
c.94C>T (p.Leu32=)
c.137-505C>T (n.137-505C>T)
c.350C>T (p.Ala117Val)
n.268C>T
c.16C>T (p.Leu6=)
c.568C>T (p.Leu190=)
c.481C>T (p.Leu161=)
c.334C>T (p.Leu112=)
c.280C>T (p.Leu94=)
Xg.48511388T>ACA412842039PORCNc.230T>A (p.Leu77Gln)
n.389T>A
n.412T>A
c.159T>A (p.Ala53=)
c.95T>A (p.Leu32Gln)
c.137-504T>A (n.137-504T>A)
c.351T>A (p.Ala117=)
n.269T>A
c.17T>A (p.Leu6Gln)
c.569T>A (p.Leu190Gln)
c.482T>A (p.Leu161Gln)
c.335T>A (p.Leu112Gln)
c.281T>A (p.Leu94Gln)
Xg.48511388T>CCA412842041PORCNc.230T>C (p.Leu77Pro)
n.389T>C
n.412T>C
c.159T>C (p.Ala53=)
c.95T>C (p.Leu32Pro)
c.137-504T>C (n.137-504T>C)
c.351T>C (p.Ala117=)
n.269T>C
c.17T>C (p.Leu6Pro)
c.569T>C (p.Leu190Pro)
c.482T>C (p.Leu161Pro)
c.335T>C (p.Leu112Pro)
c.281T>C (p.Leu94Pro)
Xg.48511388T>GCA412842042PORCNc.230T>G (p.Leu77Arg)
n.389T>G
n.412T>G
c.159T>G (p.Ala53=)
c.95T>G (p.Leu32Arg)
c.137-504T>G (n.137-504T>G)
c.351T>G (p.Ala117=)
n.269T>G
c.17T>G (p.Leu6Arg)
c.569T>G (p.Leu190Arg)
c.482T>G (p.Leu161Arg)
c.335T>G (p.Leu112Arg)
c.281T>G (p.Leu94Arg)
Xg.48511389G>ACA10402712PORCNc.231G>A (p.Leu77=)
n.390G>A
n.413G>A
c.160G>A (p.Ala54Thr)
c.96G>A (p.Leu32=)
c.137-503G>A (n.137-503G>A)
c.352G>A (p.Ala118Thr)
n.270G>A
c.18G>A (p.Leu6=)
c.570G>A (p.Leu190=)
c.483G>A (p.Leu161=)
c.336G>A (p.Leu112=)
c.282G>A (p.Leu94=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.48511389G>CCA516010099PORCNc.231G>C (p.Leu77=)
n.390G>C
n.413G>C
c.160G>C (p.Ala54Pro)
c.96G>C (p.Leu32=)
c.137-503G>C (n.137-503G>C)
c.352G>C (p.Ala118Pro)
n.270G>C
c.18G>C (p.Leu6=)
c.570G>C (p.Leu190=)
c.483G>C (p.Leu161=)
c.336G>C (p.Leu112=)
c.282G>C (p.Leu94=)
Xg.48511389G=CA2428293305PORCNc.231G= (p.Leu77=)
n.390G=
n.413G=
c.160G= (p.Ala54=)
c.96G= (p.Leu32=)
c.137-503G= (n.137-503G=)
c.352G= (p.Ala118=)
n.270G=
c.18G= (p.Leu6=)
c.570G= (p.Leu190=)
c.483G= (p.Leu161=)
c.336G= (p.Leu112=)
c.282G= (p.Leu94=)
Xg.48511389G>TCA516010103PORCNc.231G>T (p.Leu77=)
n.390G>T
n.413G>T
c.160G>T (p.Ala54Ser)
c.96G>T (p.Leu32=)
c.137-503G>T (n.137-503G>T)
c.352G>T (p.Ala118Ser)
n.270G>T
c.18G>T (p.Leu6=)
c.570G>T (p.Leu190=)
c.483G>T (p.Leu161=)
c.336G>T (p.Leu112=)
c.282G>T (p.Leu94=)
Xg.48511390C>ACA412842046PORCNc.232C>A (p.Leu78Ile)
n.391C>A
n.414C>A
c.161C>A (p.Ala54Asp)
c.97C>A (p.Leu33Ile)
c.137-502C>A (n.137-502C>A)
c.353C>A (p.Ala118Asp)
n.271C>A
c.19C>A (p.Leu7Ile)
c.571C>A (p.Leu191Ile)
c.484C>A (p.Leu162Ile)
c.337C>A (p.Leu113Ile)
c.283C>A (p.Leu95Ile)
Xg.48511390C>GCA412842048PORCNc.232C>G (p.Leu78Val)
n.391C>G
n.414C>G
c.161C>G (p.Ala54Gly)
c.97C>G (p.Leu33Val)
c.137-502C>G (n.137-502C>G)
c.353C>G (p.Ala118Gly)
n.271C>G
c.19C>G (p.Leu7Val)
c.571C>G (p.Leu191Val)
c.484C>G (p.Leu162Val)
c.337C>G (p.Leu113Val)
c.283C>G (p.Leu95Val)
Xg.48511390C>TCA412842049PORCNc.232C>T (p.Leu78Phe)
n.391C>T
n.414C>T
c.161C>T (p.Ala54Val)
c.97C>T (p.Leu33Phe)
c.137-502C>T (n.137-502C>T)
c.353C>T (p.Ala118Val)
n.271C>T
c.19C>T (p.Leu7Phe)
c.571C>T (p.Leu191Phe)
c.484C>T (p.Leu162Phe)
c.337C>T (p.Leu113Phe)
c.283C>T (p.Leu95Phe)
Xg.48511391T>ACA412842052PORCNc.233T>A (p.Leu78His)
n.392T>A
n.415T>A
c.162T>A (p.Ala54=)
c.98T>A (p.Leu33His)
c.137-501T>A (n.137-501T>A)
c.354T>A (p.Ala118=)
n.272T>A
c.20T>A (p.Leu7His)
c.572T>A (p.Leu191His)
c.485T>A (p.Leu162His)
c.338T>A (p.Leu113His)
c.284T>A (p.Leu95His)
Xg.48511391T>CCA412842054PORCNc.233T>C (p.Leu78Pro)
n.392T>C
n.415T>C
c.162T>C (p.Ala54=)
c.98T>C (p.Leu33Pro)
c.137-501T>C (n.137-501T>C)
c.354T>C (p.Ala118=)
n.272T>C
c.20T>C (p.Leu7Pro)
c.572T>C (p.Leu191Pro)
c.485T>C (p.Leu162Pro)
c.338T>C (p.Leu113Pro)
c.284T>C (p.Leu95Pro)
 gnomAD v4
Xg.48511391T>GCA412842055PORCNc.233T>G (p.Leu78Arg)
n.392T>G
n.415T>G
c.162T>G (p.Ala54=)
c.98T>G (p.Leu33Arg)
c.137-501T>G (n.137-501T>G)
c.354T>G (p.Ala118=)
n.272T>G
c.20T>G (p.Leu7Arg)
c.572T>G (p.Leu191Arg)
c.485T>G (p.Leu162Arg)
c.338T>G (p.Leu113Arg)
c.284T>G (p.Leu95Arg)
Xg.48511392C>ACA516010114PORCNc.234C>A (p.Leu78=)
n.393C>A
n.416C>A
c.163C>A (p.Gln55Lys)
c.99C>A (p.Leu33=)
c.137-500C>A (n.137-500C>A)
c.355C>A (p.Gln119Lys)
n.273C>A
c.21C>A (p.Leu7=)
c.573C>A (p.Leu191=)
c.486C>A (p.Leu162=)
c.339C>A (p.Leu113=)
c.285C>A (p.Leu95=)
Xg.48511392C>GCA516010112PORCNc.234C>G (p.Leu78=)
n.393C>G
n.416C>G
c.163C>G (p.Gln55Glu)
c.99C>G (p.Leu33=)
c.137-500C>G (n.137-500C>G)
c.355C>G (p.Gln119Glu)
n.273C>G
c.21C>G (p.Leu7=)
c.573C>G (p.Leu191=)
c.486C>G (p.Leu162=)
c.339C>G (p.Leu113=)
c.285C>G (p.Leu95=)
Xg.48511392C>TCA516010109PORCNc.234C>T (p.Leu78=)
n.393C>T
n.416C>T
c.163C>T (p.Gln55Ter)
c.99C>T (p.Leu33=)
c.137-500C>T (n.137-500C>T)
c.355C>T (p.Gln119Ter)
n.273C>T
c.21C>T (p.Leu7=)
c.573C>T (p.Leu191=)
c.486C>T (p.Leu162=)
c.339C>T (p.Leu113=)
c.285C>T (p.Leu95=)
 gnomAD v4
Xg.48511393A>CCA412842063PORCNc.235A>C (p.Ser79Arg)
n.394A>C
n.417A>C
c.164A>C (p.Gln55Pro)
c.100A>C (p.Ser34Arg)
c.137-499A>C (n.137-499A>C)
c.356A>C (p.Gln119Pro)
n.274A>C
c.22A>C (p.Ser8Arg)
c.574A>C (p.Ser192Arg)
c.487A>C (p.Ser163Arg)
c.340A>C (p.Ser114Arg)
c.286A>C (p.Ser96Arg)
Xg.48511393A>GCA412842061PORCNc.235A>G (p.Ser79Gly)
n.394A>G
n.417A>G
c.164A>G (p.Gln55Arg)
c.100A>G (p.Ser34Gly)
c.137-499A>G (n.137-499A>G)
c.356A>G (p.Gln119Arg)
n.274A>G
c.22A>G (p.Ser8Gly)
c.574A>G (p.Ser192Gly)
c.487A>G (p.Ser163Gly)
c.340A>G (p.Ser114Gly)
c.286A>G (p.Ser96Gly)
Xg.48511393A>TCA412842057PORCNc.235A>T (p.Ser79Cys)
n.394A>T
n.417A>T
c.164A>T (p.Gln55Leu)
c.100A>T (p.Ser34Cys)
c.137-499A>T (n.137-499A>T)
c.356A>T (p.Gln119Leu)
n.274A>T
c.22A>T (p.Ser8Cys)
c.574A>T (p.Ser192Cys)
c.487A>T (p.Ser163Cys)
c.340A>T (p.Ser114Cys)
c.286A>T (p.Ser96Cys)
Xg.48511394G>ACA412842065PORCNc.236G>A (p.Ser79Asn)
n.395G>A
n.418G>A
c.165G>A (p.Gln55=)
c.101G>A (p.Ser34Asn)
c.137-498G>A (n.137-498G>A)
c.357G>A (p.Gln119=)
n.275G>A
c.23G>A (p.Ser8Asn)
c.575G>A (p.Ser192Asn)
c.488G>A (p.Ser163Asn)
c.341G>A (p.Ser114Asn)
c.287G>A (p.Ser96Asn)
 gnomAD v4
Xg.48511394G>CCA412842066PORCNc.236G>C (p.Ser79Thr)
n.395G>C
n.418G>C
c.165G>C (p.Gln55His)
c.101G>C (p.Ser34Thr)
c.137-498G>C (n.137-498G>C)
c.357G>C (p.Gln119His)
n.275G>C
c.23G>C (p.Ser8Thr)
c.575G>C (p.Ser192Thr)
c.488G>C (p.Ser163Thr)
c.341G>C (p.Ser114Thr)
c.287G>C (p.Ser96Thr)
Xg.48511394G>TCA412842068PORCNc.236G>T (p.Ser79Ile)
n.395G>T
n.418G>T
c.165G>T (p.Gln55His)
c.101G>T (p.Ser34Ile)
c.137-498G>T (n.137-498G>T)
c.357G>T (p.Gln119His)
n.275G>T
c.23G>T (p.Ser8Ile)
c.575G>T (p.Ser192Ile)
c.488G>T (p.Ser163Ile)
c.341G>T (p.Ser114Ile)
c.287G>T (p.Ser96Ile)
Xg.48511395C>ACA412842070PORCNc.237C>A (p.Ser79Arg)
n.396C>A
n.419C>A
c.166C>A (p.Pro56Thr)
c.102C>A (p.Ser34Arg)
c.137-497C>A (n.137-497C>A)
c.358C>A (p.Pro120Thr)
n.276C>A
c.24C>A (p.Ser8Arg)
c.576C>A (p.Ser192Arg)
c.489C>A (p.Ser163Arg)
c.342C>A (p.Ser114Arg)
c.288C>A (p.Ser96Arg)
Xg.48511395C>GCA412842071PORCNc.237C>G (p.Ser79Arg)
n.396C>G
n.419C>G
c.166C>G (p.Pro56Ala)
c.102C>G (p.Ser34Arg)
c.137-497C>G (n.137-497C>G)
c.358C>G (p.Pro120Ala)
n.276C>G
c.24C>G (p.Ser8Arg)
c.576C>G (p.Ser192Arg)
c.489C>G (p.Ser163Arg)
c.342C>G (p.Ser114Arg)
c.288C>G (p.Ser96Arg)
Xg.48511395C>TCA516010129PORCNc.237C>T (p.Ser79=)
n.396C>T
n.419C>T
c.166C>T (p.Pro56Ser)
c.102C>T (p.Ser34=)
c.137-497C>T (n.137-497C>T)
c.358C>T (p.Pro120Ser)
n.276C>T
c.24C>T (p.Ser8=)
c.576C>T (p.Ser192=)
c.489C>T (p.Ser163=)
c.342C>T (p.Ser114=)
c.288C>T (p.Ser96=)
Xg.48511396C>ACA412842074PORCNc.238C>A (p.Leu80Ile)
n.397C>A
n.420C>A
c.167C>A (p.Pro56His)
c.103C>A (p.Leu35Ile)
c.137-496C>A (n.137-496C>A)
c.359C>A (p.Pro120His)
n.277C>A
c.25C>A (p.Leu9Ile)
c.577C>A (p.Leu193Ile)
c.490C>A (p.Leu164Ile)
c.343C>A (p.Leu115Ile)
c.289C>A (p.Leu97Ile)
Xg.48511396C=CA2428293306PORCNc.238C= (p.Leu80=)
n.397C=
n.420C=
c.167C= (p.Pro56=)
c.103C= (p.Leu35=)
c.137-496C= (n.137-496C=)
c.359C= (p.Pro120=)
n.277C=
c.25C= (p.Leu9=)
c.577C= (p.Leu193=)
c.490C= (p.Leu164=)
c.343C= (p.Leu115=)
c.289C= (p.Leu97=)
Xg.48511396C>GCA412842075PORCNc.238C>G (p.Leu80Val)
n.397C>G
n.420C>G
c.167C>G (p.Pro56Arg)
c.103C>G (p.Leu35Val)
c.137-496C>G (n.137-496C>G)
c.359C>G (p.Pro120Arg)
n.277C>G
c.25C>G (p.Leu9Val)
c.577C>G (p.Leu193Val)
c.490C>G (p.Leu164Val)
c.343C>G (p.Leu115Val)
c.289C>G (p.Leu97Val)
Xg.48511396C>TCA412842077PORCNc.238C>T (p.Leu80Phe)
n.397C>T
n.420C>T
c.167C>T (p.Pro56Leu)
c.103C>T (p.Leu35Phe)
c.137-496C>T (n.137-496C>T)
c.359C>T (p.Pro120Leu)
n.277C>T
c.25C>T (p.Leu9Phe)
c.577C>T (p.Leu193Phe)
c.490C>T (p.Leu164Phe)
c.343C>T (p.Leu115Phe)
c.289C>T (p.Leu97Phe)
 dbSNP
Xg.48511397T>ACA412842079PORCNc.239T>A (p.Leu80His)
n.398T>A
n.421T>A
c.168T>A (p.Pro56=)
c.104T>A (p.Leu35His)
c.137-495T>A (n.137-495T>A)
c.360T>A (p.Pro120=)
n.278T>A
c.26T>A (p.Leu9His)
c.578T>A (p.Leu193His)
c.491T>A (p.Leu164His)
c.344T>A (p.Leu115His)
c.290T>A (p.Leu97His)
Xg.48511397T>CCA412842081PORCNc.239T>C (p.Leu80Pro)
n.398T>C
n.421T>C
c.168T>C (p.Pro56=)
c.104T>C (p.Leu35Pro)
c.137-495T>C (n.137-495T>C)
c.360T>C (p.Pro120=)
n.278T>C
c.26T>C (p.Leu9Pro)
c.578T>C (p.Leu193Pro)
c.491T>C (p.Leu164Pro)
c.344T>C (p.Leu115Pro)
c.290T>C (p.Leu97Pro)
Xg.48511397T>GCA412842083PORCNc.239T>G (p.Leu80Arg)
n.398T>G
n.421T>G
c.168T>G (p.Pro56=)
c.104T>G (p.Leu35Arg)
c.137-495T>G (n.137-495T>G)
c.360T>G (p.Pro120=)
n.278T>G
c.26T>G (p.Leu9Arg)
c.578T>G (p.Leu193Arg)
c.491T>G (p.Leu164Arg)
c.344T>G (p.Leu115Arg)
c.290T>G (p.Leu97Arg)
Xg.48511398C>ACA516010147PORCNc.240C>A (p.Leu80=)
n.399C>A
n.422C>A
c.169C>A (p.Pro57Thr)
c.105C>A (p.Leu35=)
c.137-494C>A (n.137-494C>A)
c.361C>A (p.Pro121Thr)
n.279C>A
c.27C>A (p.Leu9=)
c.579C>A (p.Leu193=)
c.492C>A (p.Leu164=)
c.345C>A (p.Leu115=)
c.291C>A (p.Leu97=)
Xg.48511398C=CA2428293307PORCNc.240C= (p.Leu80=)
n.399C=
n.422C=
c.169C= (p.Pro57=)
c.105C= (p.Leu35=)
c.137-494C= (n.137-494C=)
c.361C= (p.Pro121=)
n.279C=
c.27C= (p.Leu9=)
c.579C= (p.Leu193=)
c.492C= (p.Leu164=)
c.345C= (p.Leu115=)
c.291C= (p.Leu97=)
Xg.48511398C>GCA10402714PORCNc.240C>G (p.Leu80=)
n.399C>G
n.422C>G
c.169C>G (p.Pro57Ala)
c.105C>G (p.Leu35=)
c.137-494C>G (n.137-494C>G)
c.361C>G (p.Pro121Ala)
n.279C>G
c.27C>G (p.Leu9=)
c.579C>G (p.Leu193=)
c.492C>G (p.Leu164=)
c.345C>G (p.Leu115=)
c.291C>G (p.Leu97=)
 dbSNP ExAC gnomAD v3 gnomAD v4
Xg.48511398C>TCA10402713PORCNc.240C>T (p.Leu80=)
n.399C>T
n.422C>T
c.169C>T (p.Pro57Ser)
c.105C>T (p.Leu35=)
c.137-494C>T (n.137-494C>T)
c.361C>T (p.Pro121Ser)
n.279C>T
c.27C>T (p.Leu9=)
c.579C>T (p.Leu193=)
c.492C>T (p.Leu164=)
c.345C>T (p.Leu115=)
c.291C>T (p.Leu97=)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.48511399C>ACA412842087PORCNc.241C>A (p.Leu81Met)
n.400C>A
n.423C>A
c.170C>A (p.Pro57His)
c.106C>A (p.Leu36Met)
c.137-493C>A (n.137-493C>A)
c.362C>A (p.Pro121His)
n.280C>A
c.28C>A (p.Leu10Met)
c.580C>A (p.Leu194Met)
c.493C>A (p.Leu165Met)
c.346C>A (p.Leu116Met)
c.292C>A (p.Leu98Met)
Xg.48511399C>GCA412842086PORCNc.241C>G (p.Leu81Val)
n.400C>G
n.423C>G
c.170C>G (p.Pro57Arg)
c.106C>G (p.Leu36Val)
c.137-493C>G (n.137-493C>G)
c.362C>G (p.Pro121Arg)
n.280C>G
c.28C>G (p.Leu10Val)
c.580C>G (p.Leu194Val)
c.493C>G (p.Leu165Val)
c.346C>G (p.Leu116Val)
c.292C>G (p.Leu98Val)
Xg.48511399C>TCA516010153PORCNc.241C>T (p.Leu81=)
n.400C>T
n.423C>T
c.170C>T (p.Pro57Leu)
c.106C>T (p.Leu36=)
c.137-493C>T (n.137-493C>T)
c.362C>T (p.Pro121Leu)
n.280C>T
c.28C>T (p.Leu10=)
c.580C>T (p.Leu194=)
c.493C>T (p.Leu165=)
c.346C>T (p.Leu116=)
c.292C>T (p.Leu98=)
Xg.48511400T>ACA412842088PORCNc.242T>A (p.Leu81Gln)
n.401T>A
n.424T>A
c.171T>A (p.Pro57=)
c.107T>A (p.Leu36Gln)
c.137-492T>A (n.137-492T>A)
c.363T>A (p.Pro121=)
n.281T>A
c.29T>A (p.Leu10Gln)
c.581T>A (p.Leu194Gln)
c.494T>A (p.Leu165Gln)
c.347T>A (p.Leu116Gln)
c.293T>A (p.Leu98Gln)
Xg.48511400T>CCA412842090PORCNc.242T>C (p.Leu81Pro)
n.401T>C
n.424T>C
c.171T>C (p.Pro57=)
c.107T>C (p.Leu36Pro)
c.137-492T>C (n.137-492T>C)
c.363T>C (p.Pro121=)
n.281T>C
c.29T>C (p.Leu10Pro)
c.581T>C (p.Leu194Pro)
c.494T>C (p.Leu165Pro)
c.347T>C (p.Leu116Pro)
c.293T>C (p.Leu98Pro)
Xg.48511400T>GCA412842092PORCNc.242T>G (p.Leu81Arg)
n.401T>G
n.424T>G
c.171T>G (p.Pro57=)
c.107T>G (p.Leu36Arg)
c.137-492T>G (n.137-492T>G)
c.363T>G (p.Pro121=)
n.281T>G
c.29T>G (p.Leu10Arg)
c.581T>G (p.Leu194Arg)
c.494T>G (p.Leu165Arg)
c.347T>G (p.Leu116Arg)
c.293T>G (p.Leu98Arg)
Xg.48511401G>ACA10402715PORCNc.243G>A (p.Leu81=)
n.402G>A
n.425G>A
c.172G>A (p.Val58Met)
c.108G>A (p.Leu36=)
c.137-491G>A (n.137-491G>A)
c.364G>A (p.Val122Met)
n.282G>A
c.30G>A (p.Leu10=)
c.582G>A (p.Leu194=)
c.495G>A (p.Leu165=)
c.348G>A (p.Leu116=)
c.294G>A (p.Leu98=)
 dbSNP ExAC
Xg.48511401G>CCA516010161PORCNc.243G>C (p.Leu81=)
n.402G>C
n.425G>C
c.172G>C (p.Val58Leu)
c.108G>C (p.Leu36=)
c.137-491G>C (n.137-491G>C)
c.364G>C (p.Val122Leu)
n.282G>C
c.30G>C (p.Leu10=)
c.582G>C (p.Leu194=)
c.495G>C (p.Leu165=)
c.348G>C (p.Leu116=)
c.294G>C (p.Leu98=)
Xg.48511401G=CA2428293308PORCNc.243G= (p.Leu81=)
n.402G=
n.425G=
c.172G= (p.Val58=)
c.108G= (p.Leu36=)
c.137-491G= (n.137-491G=)
c.364G= (p.Val122=)
n.282G=
c.30G= (p.Leu10=)
c.582G= (p.Leu194=)
c.495G= (p.Leu165=)
c.348G= (p.Leu116=)
c.294G= (p.Leu98=)
Xg.48511401G>TCA516010164PORCNc.243G>T (p.Leu81=)
n.402G>T
n.425G>T
c.172G>T (p.Val58Leu)
c.108G>T (p.Leu36=)
c.137-491G>T (n.137-491G>T)
c.364G>T (p.Val122Leu)
n.282G>T
c.30G>T (p.Leu10=)
c.582G>T (p.Leu194=)
c.495G>T (p.Leu165=)
c.348G>T (p.Leu116=)
c.294G>T (p.Leu98=)
Xg.48511402T>ACA412842094PORCNc.244T>A (p.Cys82Ser)
n.403T>A
n.426T>A
c.173T>A (p.Val58Glu)
c.109T>A (p.Cys37Ser)
c.137-490T>A (n.137-490T>A)
c.365T>A (p.Val122Glu)
n.283T>A
c.31T>A (p.Cys11Ser)
c.583T>A (p.Cys195Ser)
c.496T>A (p.Cys166Ser)
c.349T>A (p.Cys117Ser)
c.295T>A (p.Cys99Ser)
Xg.48511402T>CCA412842096PORCNc.244T>C (p.Cys82Arg)
n.403T>C
n.426T>C
c.173T>C (p.Val58Ala)
c.109T>C (p.Cys37Arg)
c.137-490T>C (n.137-490T>C)
c.365T>C (p.Val122Ala)
n.283T>C
c.31T>C (p.Cys11Arg)
c.583T>C (p.Cys195Arg)
c.496T>C (p.Cys166Arg)
c.349T>C (p.Cys117Arg)
c.295T>C (p.Cys99Arg)
Xg.48511402T>GCA412842097PORCNc.244T>G (p.Cys82Gly)
n.403T>G
n.426T>G
c.173T>G (p.Val58Gly)
c.109T>G (p.Cys37Gly)
c.137-490T>G (n.137-490T>G)
c.365T>G (p.Val122Gly)
n.283T>G
c.31T>G (p.Cys11Gly)
c.583T>G (p.Cys195Gly)
c.496T>G (p.Cys166Gly)
c.349T>G (p.Cys117Gly)
c.295T>G (p.Cys99Gly)
Xg.48511403G>ACA412842099PORCNc.245G>A (p.Cys82Tyr)
n.404G>A
n.427G>A
c.174G>A (p.Val58=)
c.110G>A (p.Cys37Tyr)
c.137-489G>A (n.137-489G>A)
c.366G>A (p.Val122=)
n.284G>A
c.32G>A (p.Cys11Tyr)
c.584G>A (p.Cys195Tyr)
c.497G>A (p.Cys166Tyr)
c.350G>A (p.Cys117Tyr)
c.296G>A (p.Cys99Tyr)
Xg.48511403G>CCA412842101PORCNc.245G>C (p.Cys82Ser)
n.404G>C
n.427G>C
c.174G>C (p.Val58=)
c.110G>C (p.Cys37Ser)
c.137-489G>C (n.137-489G>C)
c.366G>C (p.Val122=)
n.284G>C
c.32G>C (p.Cys11Ser)
c.584G>C (p.Cys195Ser)
c.497G>C (p.Cys166Ser)
c.350G>C (p.Cys117Ser)
c.296G>C (p.Cys99Ser)
Xg.48511403G>TCA412842102PORCNc.245G>T (p.Cys82Phe)
n.404G>T
n.427G>T
c.174G>T (p.Val58=)
c.110G>T (p.Cys37Phe)
c.137-489G>T (n.137-489G>T)
c.366G>T (p.Val122=)
n.284G>T
c.32G>T (p.Cys11Phe)
c.584G>T (p.Cys195Phe)
c.497G>T (p.Cys166Phe)
c.350G>T (p.Cys117Phe)
c.296G>T (p.Cys99Phe)
Xg.48511404C>ACA412842104PORCNc.246C>A (p.Cys82Ter)
n.405C>A
n.428C>A
c.175C>A (p.Leu59Ile)
c.111C>A (p.Cys37Ter)
c.137-488C>A (n.137-488C>A)
c.367C>A (p.Leu123Ile)
n.285C>A
c.33C>A (p.Cys11Ter)
c.585C>A (p.Cys195Ter)
c.498C>A (p.Cys166Ter)
c.351C>A (p.Cys117Ter)
c.297C>A (p.Cys99Ter)
Xg.48511404C>GCA412842106PORCNc.246C>G (p.Cys82Trp)
n.405C>G
n.428C>G
c.175C>G (p.Leu59Val)
c.111C>G (p.Cys37Trp)
c.137-488C>G (n.137-488C>G)
c.367C>G (p.Leu123Val)
n.285C>G
c.33C>G (p.Cys11Trp)
c.585C>G (p.Cys195Trp)
c.498C>G (p.Cys166Trp)
c.351C>G (p.Cys117Trp)
c.297C>G (p.Cys99Trp)
Xg.48511404C>TCA516010170PORCNc.246C>T (p.Cys82=)
n.405C>T
n.428C>T
c.175C>T (p.Leu59=)
c.111C>T (p.Cys37=)
c.137-488C>T (n.137-488C>T)
c.367C>T (p.Leu123=)
n.285C>T
c.33C>T (p.Cys11=)
c.585C>T (p.Cys195=)
c.498C>T (p.Cys166=)
c.351C>T (p.Cys117=)
c.297C>T (p.Cys99=)
 gnomAD v4
Xg.48511405T>ACA412842111PORCNc.247T>A (p.Tyr83Asn)
n.406T>A
n.429T>A
c.176T>A (p.Leu59Gln)
c.112T>A (p.Tyr38Asn)
c.137-487T>A (n.137-487T>A)
c.368T>A (p.Leu123Gln)
n.286T>A
c.34T>A (p.Tyr12Asn)
c.586T>A (p.Tyr196Asn)
c.499T>A (p.Tyr167Asn)
c.352T>A (p.Tyr118Asn)
c.298T>A (p.Tyr100Asn)
Xg.48511405T>CCA412842109PORCNc.247T>C (p.Tyr83His)
n.406T>C
n.429T>C
c.176T>C (p.Leu59Pro)
c.112T>C (p.Tyr38His)
c.137-487T>C (n.137-487T>C)
c.368T>C (p.Leu123Pro)
n.286T>C
c.34T>C (p.Tyr12His)
c.586T>C (p.Tyr196His)
c.499T>C (p.Tyr167His)
c.352T>C (p.Tyr118His)
c.298T>C (p.Tyr100His)
Xg.48511405T>GCA412842108PORCNc.247T>G (p.Tyr83Asp)
n.406T>G
n.429T>G
c.176T>G (p.Leu59Arg)
c.112T>G (p.Tyr38Asp)
c.137-487T>G (n.137-487T>G)
c.368T>G (p.Leu123Arg)
n.286T>G
c.34T>G (p.Tyr12Asp)
c.586T>G (p.Tyr196Asp)
c.499T>G (p.Tyr167Asp)
c.352T>G (p.Tyr118Asp)
c.298T>G (p.Tyr100Asp)
Xg.48511406A>CCA412842113PORCNc.248A>C (p.Tyr83Ser)
n.407A>C
n.430A>C
c.177A>C (p.Leu59=)
c.113A>C (p.Tyr38Ser)
c.137-486A>C (n.137-486A>C)
c.369A>C (p.Leu123=)
n.287A>C
c.35A>C (p.Tyr12Ser)
c.587A>C (p.Tyr196Ser)
c.500A>C (p.Tyr167Ser)
c.353A>C (p.Tyr118Ser)
c.299A>C (p.Tyr100Ser)
Xg.48511406A>GCA412842116PORCNc.248A>G (p.Tyr83Cys)
n.407A>G
n.430A>G
c.177A>G (p.Leu59=)
c.113A>G (p.Tyr38Cys)
c.137-486A>G (n.137-486A>G)
c.369A>G (p.Leu123=)
n.287A>G
c.35A>G (p.Tyr12Cys)
c.587A>G (p.Tyr196Cys)
c.500A>G (p.Tyr167Cys)
c.353A>G (p.Tyr118Cys)
c.299A>G (p.Tyr100Cys)
Xg.48511406A>TCA412842114PORCNc.248A>T (p.Tyr83Phe)
n.407A>T
n.430A>T
c.177A>T (p.Leu59=)
c.113A>T (p.Tyr38Phe)
c.137-486A>T (n.137-486A>T)
c.369A>T (p.Leu123=)
n.287A>T
c.35A>T (p.Tyr12Phe)
c.587A>T (p.Tyr196Phe)
c.500A>T (p.Tyr167Phe)
c.353A>T (p.Tyr118Phe)
c.299A>T (p.Tyr100Phe)
Xg.48511406_48511407delinsACCA2428293309PORCNc.248_249delinsAC (p.Tyr83=)
n.407_408delinsAC
n.430_431delinsAC
c.177_178delinsAC (p.Leu59=)
c.113_114delinsAC (p.Tyr38=)
c.137-486_137-485delinsAC (n.137-486_137-485delinsAC)
c.369_370delinsAC (p.Leu123=)
n.287_288delinsAC
c.35_36delinsAC (p.Tyr12=)
c.587_588delinsAC (p.Tyr196=)
c.500_501delinsAC (p.Tyr167=)
c.353_354delinsAC (p.Tyr118=)
c.299_300delinsAC (p.Tyr100=)
Xg.48511407C>ACA412842117PORCNc.249C>A (p.Tyr83Ter)
n.408C>A
n.431C>A
c.178C>A (p.Pro60Thr)
c.114C>A (p.Tyr38Ter)
c.137-485C>A (n.137-485C>A)
c.370C>A (p.Pro124Thr)
n.288C>A
c.36C>A (p.Tyr12Ter)
c.588C>A (p.Tyr196Ter)
c.501C>A (p.Tyr167Ter)
c.354C>A (p.Tyr118Ter)
c.300C>A (p.Tyr100Ter)
Xg.48511407C>GCA412842119PORCNc.249C>G (p.Tyr83Ter)
n.408C>G
n.431C>G
c.178C>G (p.Pro60Ala)
c.114C>G (p.Tyr38Ter)
c.137-485C>G (n.137-485C>G)
c.370C>G (p.Pro124Ala)
n.288C>G
c.36C>G (p.Tyr12Ter)
c.588C>G (p.Tyr196Ter)
c.501C>G (p.Tyr167Ter)
c.354C>G (p.Tyr118Ter)
c.300C>G (p.Tyr100Ter)
Xg.48511407C>TCA516010189PORCNc.249C>T (p.Tyr83=)
n.408C>T
n.431C>T
c.178C>T (p.Pro60Ser)
c.114C>T (p.Tyr38=)
c.137-485C>T (n.137-485C>T)
c.370C>T (p.Pro124Ser)
n.288C>T
c.36C>T (p.Tyr12=)
c.588C>T (p.Tyr196=)
c.501C>T (p.Tyr167=)
c.354C>T (p.Tyr118=)
c.300C>T (p.Tyr100=)
Xg.48511408delCA224396PORCNc.250del (p.Leu84SerfsTer?)
n.409del
n.432del
c.179del (p.Pro60LeufsTer?)
c.115del (p.Leu39SerfsTer?)
c.137-484del (n.137-484del)
c.371del (p.Pro124LeufsTer?)
n.289del
c.37del (p.Leu13SerfsTer?)
c.589del (p.Leu197SerfsTer?)
c.502del (p.Leu168SerfsTer?)
c.355del (p.Leu119SerfsTer?)
c.301del (p.Leu101SerfsTer?)
 ClinVar dbSNP
Xg.48511408C>ACA412842121PORCNc.250C>A (p.Leu84Ile)
n.409C>A
n.432C>A
c.179C>A (p.Pro60His)
c.115C>A (p.Leu39Ile)
c.137-484C>A (n.137-484C>A)
c.371C>A (p.Pro124His)
n.289C>A
c.37C>A (p.Leu13Ile)
c.589C>A (p.Leu197Ile)
c.502C>A (p.Leu168Ile)
c.355C>A (p.Leu119Ile)
c.301C>A (p.Leu101Ile)
Xg.48511408C>GCA412842123PORCNc.250C>G (p.Leu84Val)
n.409C>G
n.432C>G
c.179C>G (p.Pro60Arg)
c.115C>G (p.Leu39Val)
c.137-484C>G (n.137-484C>G)
c.371C>G (p.Pro124Arg)
n.289C>G
c.37C>G (p.Leu13Val)
c.589C>G (p.Leu197Val)
c.502C>G (p.Leu168Val)
c.355C>G (p.Leu119Val)
c.301C>G (p.Leu101Val)
 gnomAD v4
Xg.48511408C>TCA412842125PORCNc.250C>T (p.Leu84Phe)
n.409C>T
n.432C>T
c.179C>T (p.Pro60Leu)
c.115C>T (p.Leu39Phe)
c.137-484C>T (n.137-484C>T)
c.371C>T (p.Pro124Leu)
n.289C>T
c.37C>T (p.Leu13Phe)
c.589C>T (p.Leu197Phe)
c.502C>T (p.Leu168Phe)
c.355C>T (p.Leu119Phe)
c.301C>T (p.Leu101Phe)
Xg.48511409T>ACA412842126PORCNc.251T>A (p.Leu84His)
n.410T>A
n.433T>A
c.180T>A (p.Pro60=)
c.116T>A (p.Leu39His)
c.137-483T>A (n.137-483T>A)
c.372T>A (p.Pro124=)
n.290T>A
c.38T>A (p.Leu13His)
c.590T>A (p.Leu197His)
c.503T>A (p.Leu168His)
c.356T>A (p.Leu119His)
c.302T>A (p.Leu101His)
Xg.48511409T>CCA412842128PORCNc.251T>C (p.Leu84Pro)
n.410T>C
n.433T>C
c.180T>C (p.Pro60=)
c.116T>C (p.Leu39Pro)
c.137-483T>C (n.137-483T>C)
c.372T>C (p.Pro124=)
n.290T>C
c.38T>C (p.Leu13Pro)
c.590T>C (p.Leu197Pro)
c.503T>C (p.Leu168Pro)
c.356T>C (p.Leu119Pro)
c.302T>C (p.Leu101Pro)
Xg.48511409T>GCA412842130PORCNc.251T>G (p.Leu84Arg)
n.410T>G
n.433T>G
c.180T>G (p.Pro60=)
c.116T>G (p.Leu39Arg)
c.137-483T>G (n.137-483T>G)
c.372T>G (p.Pro124=)
n.290T>G
c.38T>G (p.Leu13Arg)
c.590T>G (p.Leu197Arg)
c.503T>G (p.Leu168Arg)
c.356T>G (p.Leu119Arg)
c.302T>G (p.Leu101Arg)
Xg.48511410C>ACA516010204PORCNc.252C>A (p.Leu84=)
n.411C>A
n.434C>A
c.181C>A (p.Arg61Ser)
c.117C>A (p.Leu39=)
c.137-482C>A (n.137-482C>A)
c.373C>A (p.Arg125Ser)
n.291C>A
c.39C>A (p.Leu13=)
c.591C>A (p.Leu197=)
c.504C>A (p.Leu168=)
c.357C>A (p.Leu119=)
c.303C>A (p.Leu101=)
Xg.48511410C=CA2428293310PORCNc.252C= (p.Leu84=)
n.411C=
n.434C=
c.181C= (p.Arg61=)
c.117C= (p.Leu39=)
c.137-482C= (n.137-482C=)
c.373C= (p.Arg125=)
n.291C=
c.39C= (p.Leu13=)
c.591C= (p.Leu197=)
c.504C= (p.Leu168=)
c.357C= (p.Leu119=)
c.303C= (p.Leu101=)
Xg.48511410C>GCA516010205PORCNc.252C>G (p.Leu84=)
n.411C>G
n.434C>G
c.181C>G (p.Arg61Gly)
c.117C>G (p.Leu39=)
c.137-482C>G (n.137-482C>G)
c.373C>G (p.Arg125Gly)
n.291C>G
c.39C>G (p.Leu13=)
c.591C>G (p.Leu197=)
c.504C>G (p.Leu168=)
c.357C>G (p.Leu119=)
c.303C>G (p.Leu101=)
 COSMIC
Xg.48511410C>TCA10402716PORCNc.252C>T (p.Leu84=)
n.411C>T
n.434C>T
c.181C>T (p.Arg61Cys)
c.117C>T (p.Leu39=)
c.137-482C>T (n.137-482C>T)
c.373C>T (p.Arg125Cys)
n.291C>T
c.39C>T (p.Leu13=)
c.591C>T (p.Leu197=)
c.504C>T (p.Leu168=)
c.357C>T (p.Leu119=)
c.303C>T (p.Leu101=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.48511411G>ACA10402717PORCNc.253G>A (p.Val85Met)
n.412G>A
n.435G>A
c.182G>A (p.Arg61His)
c.118G>A (p.Val40Met)
c.137-481G>A (n.137-481G>A)
c.374G>A (p.Arg125His)
n.292G>A
c.40G>A (p.Val14Met)
c.592G>A (p.Val198Met)
c.505G>A (p.Val169Met)
c.358G>A (p.Val120Met)
c.304G>A (p.Val102Met)
 dbSNP ExAC gnomAD v4
Xg.48511411G>CCA412842133PORCNc.253G>C (p.Val85Leu)
n.412G>C
n.435G>C
c.182G>C (p.Arg61Pro)
c.118G>C (p.Val40Leu)
c.137-481G>C (n.137-481G>C)
c.374G>C (p.Arg125Pro)
n.292G>C
c.40G>C (p.Val14Leu)
c.592G>C (p.Val198Leu)
c.505G>C (p.Val169Leu)
c.358G>C (p.Val120Leu)
c.304G>C (p.Val102Leu)
 dbSNP gnomAD v2 gnomAD v4
Xg.48511411G=CA2428293311PORCNc.253G= (p.Val85=)
n.412G=
n.435G=
c.182G= (p.Arg61=)
c.118G= (p.Val40=)
c.137-481G= (n.137-481G=)
c.374G= (p.Arg125=)
n.292G=
c.40G= (p.Val14=)
c.592G= (p.Val198=)
c.505G= (p.Val169=)
c.358G= (p.Val120=)
c.304G= (p.Val102=)
Xg.48511411G>TCA412842134PORCNc.253G>T (p.Val85Leu)
n.412G>T
n.435G>T
c.182G>T (p.Arg61Leu)
c.118G>T (p.Val40Leu)
c.137-481G>T (n.137-481G>T)
c.374G>T (p.Arg125Leu)
n.292G>T
c.40G>T (p.Val14Leu)
c.592G>T (p.Val198Leu)
c.505G>T (p.Val169Leu)
c.358G>T (p.Val120Leu)
c.304G>T (p.Val102Leu)
Xg.48511412T>ACA412842135PORCNc.254T>A (p.Val85Glu)
n.413T>A
n.436T>A
c.183T>A (p.Arg61=)
c.119T>A (p.Val40Glu)
c.137-480T>A (n.137-480T>A)
c.375T>A (p.Arg125=)
n.293T>A
c.41T>A (p.Val14Glu)
c.593T>A (p.Val198Glu)
c.506T>A (p.Val169Glu)
c.359T>A (p.Val120Glu)
c.305T>A (p.Val102Glu)
Xg.48511412T>CCA412842138PORCNc.254T>C (p.Val85Ala)
n.413T>C
n.436T>C
c.183T>C (p.Arg61=)
c.119T>C (p.Val40Ala)
c.137-480T>C (n.137-480T>C)
c.375T>C (p.Arg125=)
n.293T>C
c.41T>C (p.Val14Ala)
c.593T>C (p.Val198Ala)
c.506T>C (p.Val169Ala)
c.359T>C (p.Val120Ala)
c.305T>C (p.Val102Ala)
 dbSNP
Xg.48511412T>GCA412842137PORCNc.254T>G (p.Val85Gly)
n.413T>G
n.436T>G
c.183T>G (p.Arg61=)
c.119T>G (p.Val40Gly)
c.137-480T>G (n.137-480T>G)
c.375T>G (p.Arg125=)
n.293T>G
c.41T>G (p.Val14Gly)
c.593T>G (p.Val198Gly)
c.506T>G (p.Val169Gly)
c.359T>G (p.Val120Gly)
c.305T>G (p.Val102Gly)
Xg.48511412T=CA2428293312PORCNc.254T= (p.Val85=)
n.413T=
n.436T=
c.183T= (p.Arg61=)
c.119T= (p.Val40=)
c.137-480T= (n.137-480T=)
c.375T= (p.Arg125=)
n.293T=
c.41T= (p.Val14=)
c.593T= (p.Val198=)
c.506T= (p.Val169=)
c.359T= (p.Val120=)
c.305T= (p.Val102=)
Xg.48511413G>ACA329067810PORCNc.255G>A (p.Val85=)
n.414G>A
n.437G>A
c.184G>A (p.Ala62Thr)
c.120G>A (p.Val40=)
c.137-479G>A (n.137-479G>A)
c.376G>A (p.Ala126Thr)
n.294G>A
c.42G>A (p.Val14=)
c.594G>A (p.Val198=)
c.507G>A (p.Val169=)
c.360G>A (p.Val120=)
c.306G>A (p.Val102=)
 dbSNP gnomAD v3 gnomAD v4
Xg.48511413G>CCA516010216PORCNc.255G>C (p.Val85=)
n.414G>C
n.437G>C
c.184G>C (p.Ala62Pro)
c.120G>C (p.Val40=)
c.137-479G>C (n.137-479G>C)
c.376G>C (p.Ala126Pro)
n.294G>C
c.42G>C (p.Val14=)
c.594G>C (p.Val198=)
c.507G>C (p.Val169=)
c.360G>C (p.Val120=)
c.306G>C (p.Val102=)
Xg.48511413G=CA2428293313PORCNc.255G= (p.Val85=)
n.414G=
n.437G=
c.184G= (p.Ala62=)
c.120G= (p.Val40=)
c.137-479G= (n.137-479G=)
c.376G= (p.Ala126=)
n.294G=
c.42G= (p.Val14=)
c.594G= (p.Val198=)
c.507G= (p.Val169=)
c.360G= (p.Val120=)
c.306G= (p.Val102=)
Xg.48511413G>TCA516010215PORCNc.255G>T (p.Val85=)
n.414G>T
n.437G>T
c.184G>T (p.Ala62Ser)
c.120G>T (p.Val40=)
c.137-479G>T (n.137-479G>T)
c.376G>T (p.Ala126Ser)
n.294G>T
c.42G>T (p.Val14=)
c.594G>T (p.Val198=)
c.507G>T (p.Val169=)
c.360G>T (p.Val120=)
c.306G>T (p.Val102=)
Xg.48511414C>ACA412842139PORCNc.256C>A (p.Leu86Met)
n.415C>A
n.438C>A
c.185C>A (p.Ala62Asp)
c.121C>A (p.Leu41Met)
c.137-478C>A (n.137-478C>A)
c.377C>A (p.Ala126Asp)
n.295C>A
c.43C>A (p.Leu15Met)
c.595C>A (p.Leu199Met)
c.508C>A (p.Leu170Met)
c.361C>A (p.Leu121Met)
c.307C>A (p.Leu103Met)
Xg.48511414C=CA2428293314PORCNc.256C= (p.Leu86=)
n.415C=
n.438C=
c.185C= (p.Ala62=)
c.121C= (p.Leu41=)
c.137-478C= (n.137-478C=)
c.377C= (p.Ala126=)
n.295C=
c.43C= (p.Leu15=)
c.595C= (p.Leu199=)
c.508C= (p.Leu170=)
c.361C= (p.Leu121=)
c.307C= (p.Leu103=)
Xg.48511414C>GCA412842141PORCNc.256C>G (p.Leu86Val)
n.415C>G
n.438C>G
c.185C>G (p.Ala62Gly)
c.121C>G (p.Leu41Val)
c.137-478C>G (n.137-478C>G)
c.377C>G (p.Ala126Gly)
n.295C>G
c.43C>G (p.Leu15Val)
c.595C>G (p.Leu199Val)
c.508C>G (p.Leu170Val)
c.361C>G (p.Leu121Val)
c.307C>G (p.Leu103Val)
 dbSNP
Xg.48511414C>TCA516010217PORCNc.256C>T (p.Leu86=)
n.415C>T
n.438C>T
c.185C>T (p.Ala62Val)
c.121C>T (p.Leu41=)
c.137-478C>T (n.137-478C>T)
c.377C>T (p.Ala126Val)
n.295C>T
c.43C>T (p.Leu15=)
c.595C>T (p.Leu199=)
c.508C>T (p.Leu170=)
c.361C>T (p.Leu121=)
c.307C>T (p.Leu103=)
 gnomAD v4
Xg.48511415T>ACA412842143PORCNc.257T>A (p.Leu86Gln)
n.416T>A
n.439T>A
c.186T>A (p.Ala62=)
c.122T>A (p.Leu41Gln)
c.137-477T>A (n.137-477T>A)
c.378T>A (p.Ala126=)
n.296T>A
c.44T>A (p.Leu15Gln)
c.596T>A (p.Leu199Gln)
c.509T>A (p.Leu170Gln)
c.362T>A (p.Leu121Gln)
c.308T>A (p.Leu103Gln)
 gnomAD v4
Xg.48511415T>CCA412842145PORCNc.257T>C (p.Leu86Pro)
n.416T>C
n.439T>C
c.186T>C (p.Ala62=)
c.122T>C (p.Leu41Pro)
c.137-477T>C (n.137-477T>C)
c.378T>C (p.Ala126=)
n.296T>C
c.44T>C (p.Leu15Pro)
c.596T>C (p.Leu199Pro)
c.509T>C (p.Leu170Pro)
c.362T>C (p.Leu121Pro)
c.308T>C (p.Leu103Pro)
Xg.48511415T>GCA412842146PORCNc.257T>G (p.Leu86Arg)
n.416T>G
n.439T>G
c.186T>G (p.Ala62=)
c.122T>G (p.Leu41Arg)
c.137-477T>G (n.137-477T>G)
c.378T>G (p.Ala126=)
n.296T>G
c.44T>G (p.Leu15Arg)
c.596T>G (p.Leu199Arg)
c.509T>G (p.Leu170Arg)
c.362T>G (p.Leu121Arg)
c.308T>G (p.Leu103Arg)
Xg.48511416G>ACA516010220PORCNc.258G>A (p.Leu86=)
n.417G>A
n.440G>A
c.187G>A (p.Val63Ile)
c.123G>A (p.Leu41=)
c.137-476G>A (n.137-476G>A)
c.379G>A (p.Val127Ile)
n.297G>A
c.45G>A (p.Leu15=)
c.597G>A (p.Leu199=)
c.510G>A (p.Leu170=)
c.363G>A (p.Leu121=)
c.309G>A (p.Leu103=)
Xg.48511416G>CCA516010222PORCNc.258G>C (p.Leu86=)
n.417G>C
n.440G>C
c.187G>C (p.Val63Leu)
c.123G>C (p.Leu41=)
c.137-476G>C (n.137-476G>C)
c.379G>C (p.Val127Leu)
n.297G>C
c.45G>C (p.Leu15=)
c.597G>C (p.Leu199=)
c.510G>C (p.Leu170=)
c.363G>C (p.Leu121=)
c.309G>C (p.Leu103=)
Xg.48511416G>TCA516010224PORCNc.258G>T (p.Leu86=)
n.417G>T
n.440G>T
c.187G>T (p.Val63Phe)
c.123G>T (p.Leu41=)
c.137-476G>T (n.137-476G>T)
c.379G>T (p.Val127Phe)
n.297G>T
c.45G>T (p.Leu15=)
c.597G>T (p.Leu199=)
c.510G>T (p.Leu170=)
c.363G>T (p.Leu121=)
c.309G>T (p.Leu103=)
Xg.48511417T>ACA412842148PORCNc.259T>A (p.Phe87Ile)
n.418T>A
n.441T>A
c.188T>A (p.Val63Asp)
c.124T>A (p.Phe42Ile)
c.137-475T>A (n.137-475T>A)
c.380T>A (p.Val127Asp)
n.298T>A
c.46T>A (p.Phe16Ile)
c.598T>A (p.Phe200Ile)
c.511T>A (p.Phe171Ile)
c.364T>A (p.Phe122Ile)
c.310T>A (p.Phe104Ile)
Xg.48511417T>CCA412842150PORCNc.259T>C (p.Phe87Leu)
n.418T>C
n.441T>C
c.188T>C (p.Val63Ala)
c.124T>C (p.Phe42Leu)
c.137-475T>C (n.137-475T>C)
c.380T>C (p.Val127Ala)
n.298T>C
c.46T>C (p.Phe16Leu)
c.598T>C (p.Phe200Leu)
c.511T>C (p.Phe171Leu)
c.364T>C (p.Phe122Leu)
c.310T>C (p.Phe104Leu)
Xg.48511417T>GCA412842152PORCNc.259T>G (p.Phe87Val)
n.418T>G
n.441T>G
c.188T>G (p.Val63Gly)
c.124T>G (p.Phe42Val)
c.137-475T>G (n.137-475T>G)
c.380T>G (p.Val127Gly)
n.298T>G
c.46T>G (p.Phe16Val)
c.598T>G (p.Phe200Val)
c.511T>G (p.Phe171Val)
c.364T>G (p.Phe122Val)
c.310T>G (p.Phe104Val)
Xg.48511418T>ACA412842154PORCNc.260T>A (p.Phe87Tyr)
n.419T>A
n.442T>A
c.189T>A (p.Val63=)
c.125T>A (p.Phe42Tyr)
c.137-474T>A (n.137-474T>A)
c.381T>A (p.Val127=)
n.299T>A
c.47T>A (p.Phe16Tyr)
c.599T>A (p.Phe200Tyr)
c.512T>A (p.Phe171Tyr)
c.365T>A (p.Phe122Tyr)
c.311T>A (p.Phe104Tyr)
Xg.48511418T>CCA412842156PORCNc.260T>C (p.Phe87Ser)
n.419T>C
n.442T>C
c.189T>C (p.Val63=)
c.125T>C (p.Phe42Ser)
c.137-474T>C (n.137-474T>C)
c.381T>C (p.Val127=)
n.299T>C
c.47T>C (p.Phe16Ser)
c.599T>C (p.Phe200Ser)
c.512T>C (p.Phe171Ser)
c.365T>C (p.Phe122Ser)
c.311T>C (p.Phe104Ser)
Xg.48511418T>GCA412842158PORCNc.260T>G (p.Phe87Cys)
n.419T>G
n.442T>G
c.189T>G (p.Val63=)
c.125T>G (p.Phe42Cys)
c.137-474T>G (n.137-474T>G)
c.381T>G (p.Val127=)
n.299T>G
c.47T>G (p.Phe16Cys)
c.599T>G (p.Phe200Cys)
c.512T>G (p.Phe171Cys)
c.365T>G (p.Phe122Cys)
c.311T>G (p.Phe104Cys)
Xg.48511419C>ACA412842159PORCNc.261C>A (p.Phe87Leu)
n.420C>A
n.443C>A
c.190C>A (p.Pro64Thr)
c.126C>A (p.Phe42Leu)
c.137-473C>A (n.137-473C>A)
c.382C>A (p.Pro128Thr)
n.300C>A
c.48C>A (p.Phe16Leu)
c.600C>A (p.Phe200Leu)
c.513C>A (p.Phe171Leu)
c.366C>A (p.Phe122Leu)
c.312C>A (p.Phe104Leu)
Xg.48511419C>GCA412842160PORCNc.261C>G (p.Phe87Leu)
n.420C>G
n.443C>G
c.190C>G (p.Pro64Ala)
c.126C>G (p.Phe42Leu)
c.137-473C>G (n.137-473C>G)
c.382C>G (p.Pro128Ala)
n.300C>G
c.48C>G (p.Phe16Leu)
c.600C>G (p.Phe200Leu)
c.513C>G (p.Phe171Leu)
c.366C>G (p.Phe122Leu)
c.312C>G (p.Phe104Leu)
Xg.48511419C>TCA516010226PORCNc.261C>T (p.Phe87=)
n.420C>T
n.443C>T
c.190C>T (p.Pro64Ser)
c.126C>T (p.Phe42=)
c.137-473C>T (n.137-473C>T)
c.382C>T (p.Pro128Ser)
n.300C>T
c.48C>T (p.Phe16=)
c.600C>T (p.Phe200=)
c.513C>T (p.Phe171=)
c.366C>T (p.Phe122=)
c.312C>T (p.Phe104=)
 COSMIC
Xg.48511420C>ACA412842164PORCNc.262C>A (p.Leu88Ile)
n.421C>A
n.444C>A
c.191C>A (p.Pro64His)
c.127C>A (p.Leu43Ile)
c.137-472C>A (n.137-472C>A)
c.383C>A (p.Pro128His)
n.301C>A
c.49C>A (p.Leu17Ile)
c.601C>A (p.Leu201Ile)
c.514C>A (p.Leu172Ile)
c.367C>A (p.Leu123Ile)
c.313C>A (p.Leu105Ile)
Xg.48511420C>GCA412842165PORCNc.262C>G (p.Leu88Val)
n.421C>G
n.444C>G
c.191C>G (p.Pro64Arg)
c.127C>G (p.Leu43Val)
c.137-472C>G (n.137-472C>G)
c.383C>G (p.Pro128Arg)
n.301C>G
c.49C>G (p.Leu17Val)
c.601C>G (p.Leu201Val)
c.514C>G (p.Leu172Val)
c.367C>G (p.Leu123Val)
c.313C>G (p.Leu105Val)
 gnomAD v4
Xg.48511420C>TCA412842167PORCNc.262C>T (p.Leu88Phe)
n.421C>T
n.444C>T
c.191C>T (p.Pro64Leu)
c.127C>T (p.Leu43Phe)
c.137-472C>T (n.137-472C>T)
c.383C>T (p.Pro128Leu)
n.301C>T
c.49C>T (p.Leu17Phe)
c.601C>T (p.Leu201Phe)
c.514C>T (p.Leu172Phe)
c.367C>T (p.Leu123Phe)
c.313C>T (p.Leu105Phe)
Xg.48511421T>ACA412842170PORCNc.263T>A (p.Leu88His)
n.422T>A
n.445T>A
c.192T>A (p.Pro64=)
c.128T>A (p.Leu43His)
c.137-471T>A (n.137-471T>A)
c.384T>A (p.Pro128=)
n.302T>A
c.50T>A (p.Leu17His)
c.602T>A (p.Leu201His)
c.515T>A (p.Leu172His)
c.368T>A (p.Leu123His)
c.314T>A (p.Leu105His)
Xg.48511421T>CCA412842171PORCNc.263T>C (p.Leu88Pro)
n.422T>C
n.445T>C
c.192T>C (p.Pro64=)
c.128T>C (p.Leu43Pro)
c.137-471T>C (n.137-471T>C)
c.384T>C (p.Pro128=)
n.302T>C
c.50T>C (p.Leu17Pro)
c.602T>C (p.Leu201Pro)
c.515T>C (p.Leu172Pro)
c.368T>C (p.Leu123Pro)
c.314T>C (p.Leu105Pro)
Xg.48511421T>GCA412842173PORCNc.263T>G (p.Leu88Arg)
n.422T>G
n.445T>G
c.192T>G (p.Pro64=)
c.128T>G (p.Leu43Arg)
c.137-471T>G (n.137-471T>G)
c.384T>G (p.Pro128=)
n.302T>G
c.50T>G (p.Leu17Arg)
c.602T>G (p.Leu201Arg)
c.515T>G (p.Leu172Arg)
c.368T>G (p.Leu123Arg)
c.314T>G (p.Leu105Arg)
Xg.48511422C>ACA516010231PORCNc.264C>A (p.Leu88=)
n.423C>A
n.446C>A
c.193C>A (p.Leu65Met)
c.129C>A (p.Leu43=)
c.137-470C>A (n.137-470C>A)
c.385C>A (p.Leu129Met)
n.303C>A
c.51C>A (p.Leu17=)
c.603C>A (p.Leu201=)
c.516C>A (p.Leu172=)
c.369C>A (p.Leu123=)
c.315C>A (p.Leu105=)
Xg.48511422C>GCA516010232PORCNc.264C>G (p.Leu88=)
n.423C>G
n.446C>G
c.193C>G (p.Leu65Val)
c.129C>G (p.Leu43=)
c.137-470C>G (n.137-470C>G)
c.385C>G (p.Leu129Val)
n.303C>G
c.51C>G (p.Leu17=)
c.603C>G (p.Leu201=)
c.516C>G (p.Leu172=)
c.369C>G (p.Leu123=)
c.315C>G (p.Leu105=)
Xg.48511422C>TCA516010233PORCNc.264C>T (p.Leu88=)
n.423C>T
n.446C>T
c.193C>T (p.Leu65=)
c.129C>T (p.Leu43=)
c.137-470C>T (n.137-470C>T)
c.385C>T (p.Leu129=)
n.303C>T
c.51C>T (p.Leu17=)
c.603C>T (p.Leu201=)
c.516C>T (p.Leu172=)
c.369C>T (p.Leu123=)
c.315C>T (p.Leu105=)
Xg.48511423T>ACA412842175PORCNc.265T>A (p.Cys89Ser)
n.424T>A
n.447T>A
c.194T>A (p.Leu65Gln)
c.130T>A (p.Cys44Ser)
c.137-469T>A (n.137-469T>A)
c.386T>A (p.Leu129Gln)
n.304T>A
c.52T>A (p.Cys18Ser)
c.604T>A (p.Cys202Ser)
c.517T>A (p.Cys173Ser)
c.370T>A (p.Cys124Ser)
c.316T>A (p.Cys106Ser)
Xg.48511423T>CCA412842177PORCNc.265T>C (p.Cys89Arg)
n.424T>C
n.447T>C
c.194T>C (p.Leu65Pro)
c.130T>C (p.Cys44Arg)
c.137-469T>C (n.137-469T>C)
c.386T>C (p.Leu129Pro)
n.304T>C
c.52T>C (p.Cys18Arg)
c.604T>C (p.Cys202Arg)
c.517T>C (p.Cys173Arg)
c.370T>C (p.Cys124Arg)
c.316T>C (p.Cys106Arg)
Xg.48511423T>GCA412842178PORCNc.265T>G (p.Cys89Gly)
n.424T>G
n.447T>G
c.194T>G (p.Leu65Arg)
c.130T>G (p.Cys44Gly)
c.137-469T>G (n.137-469T>G)
c.386T>G (p.Leu129Arg)
n.304T>G
c.52T>G (p.Cys18Gly)
c.604T>G (p.Cys202Gly)
c.517T>G (p.Cys173Gly)
c.370T>G (p.Cys124Gly)
c.316T>G (p.Cys106Gly)
Xg.48511424G>ACA412842180PORCNc.266G>A (p.Cys89Tyr)
n.425G>A
n.448G>A
c.195G>A (p.Leu65=)
c.131G>A (p.Cys44Tyr)
c.137-468G>A (n.137-468G>A)
c.387G>A (p.Leu129=)
n.305G>A
c.53G>A (p.Cys18Tyr)
c.605G>A (p.Cys202Tyr)
c.518G>A (p.Cys173Tyr)
c.371G>A (p.Cys124Tyr)
c.317G>A (p.Cys106Tyr)
Xg.48511424G>CCA412842181PORCNc.266G>C (p.Cys89Ser)
n.425G>C
n.448G>C
c.195G>C (p.Leu65=)
c.131G>C (p.Cys44Ser)
c.137-468G>C (n.137-468G>C)
c.387G>C (p.Leu129=)
n.305G>C
c.53G>C (p.Cys18Ser)
c.605G>C (p.Cys202Ser)
c.518G>C (p.Cys173Ser)
c.371G>C (p.Cys124Ser)
c.317G>C (p.Cys106Ser)
Xg.48511424G>TCA412842182PORCNc.266G>T (p.Cys89Phe)
n.425G>T
n.448G>T
c.195G>T (p.Leu65=)
c.131G>T (p.Cys44Phe)
c.137-468G>T (n.137-468G>T)
c.387G>T (p.Leu129=)
n.305G>T
c.53G>T (p.Cys18Phe)
c.605G>T (p.Cys202Phe)
c.518G>T (p.Cys173Phe)
c.371G>T (p.Cys124Phe)
c.317G>T (p.Cys106Phe)
Xg.48511425C>ACA412842183PORCNc.267C>A (p.Cys89Ter)
n.426C>A
n.449C>A
c.196C>A (p.Pro66Thr)
c.132C>A (p.Cys44Ter)
c.137-467C>A (n.137-467C>A)
c.388C>A (p.Pro130Thr)
n.306C>A
c.54C>A (p.Cys18Ter)
c.606C>A (p.Cys202Ter)
c.519C>A (p.Cys173Ter)
c.372C>A (p.Cys124Ter)
c.318C>A (p.Cys106Ter)
Xg.48511425C>GCA412842184PORCNc.267C>G (p.Cys89Trp)
n.426C>G
n.449C>G
c.196C>G (p.Pro66Ala)
c.132C>G (p.Cys44Trp)
c.137-467C>G (n.137-467C>G)
c.388C>G (p.Pro130Ala)
n.306C>G
c.54C>G (p.Cys18Trp)
c.606C>G (p.Cys202Trp)
c.519C>G (p.Cys173Trp)
c.372C>G (p.Cys124Trp)
c.318C>G (p.Cys106Trp)
Xg.48511425C>TCA516010236PORCNc.267C>T (p.Cys89=)
n.426C>T
n.449C>T
c.196C>T (p.Pro66Ser)
c.132C>T (p.Cys44=)
c.137-467C>T (n.137-467C>T)
c.388C>T (p.Pro130Ser)
n.306C>T
c.54C>T (p.Cys18=)
c.606C>T (p.Cys202=)
c.519C>T (p.Cys173=)
c.372C>T (p.Cys124=)
c.318C>T (p.Cys106=)
Xg.48511426C>ACA516010237PORCNc.268C>A (p.Arg90=)
n.427C>A
n.450C>A
c.197C>A (p.Pro66Gln)
c.133C>A (p.Arg45=)
c.137-466C>A (n.137-466C>A)
c.389C>A (p.Pro130Gln)
n.307C>A
c.55C>A (p.Arg19=)
c.607C>A (p.Arg203=)
c.520C>A (p.Arg174=)
c.373C>A (p.Arg125=)
c.319C>A (p.Arg107=)
Xg.48511426C=CA2428293315PORCNc.268C= (p.Arg90=)
n.427C=
n.450C=
c.197C= (p.Pro66=)
c.133C= (p.Arg45=)
c.137-466C= (n.137-466C=)
c.389C= (p.Pro130=)
n.307C=
c.55C= (p.Arg19=)
c.607C= (p.Arg203=)
c.520C= (p.Arg174=)
c.373C= (p.Arg125=)
c.319C= (p.Arg107=)
Xg.48511426C>GCA412842185PORCNc.268C>G (p.Arg90Gly)
n.427C>G
n.450C>G
c.197C>G (p.Pro66Arg)
c.133C>G (p.Arg45Gly)
c.137-466C>G (n.137-466C>G)
c.389C>G (p.Pro130Arg)
n.307C>G
c.55C>G (p.Arg19Gly)
c.607C>G (p.Arg203Gly)
c.520C>G (p.Arg174Gly)
c.373C>G (p.Arg125Gly)
c.319C>G (p.Arg107Gly)
Xg.48511426C>TCA412842186PORCNc.268C>T (p.Arg90Ter)
n.427C>T
n.450C>T
c.197C>T (p.Pro66Leu)
c.133C>T (p.Arg45Ter)
c.137-466C>T (n.137-466C>T)
c.389C>T (p.Pro130Leu)
n.307C>T
c.55C>T (p.Arg19Ter)
c.607C>T (p.Arg203Ter)
c.520C>T (p.Arg174Ter)
c.373C>T (p.Arg125Ter)
c.319C>T (p.Arg107Ter)
 ClinVar dbSNP gnomAD v4 COSMIC
Xg.48511427G>ACA10402718PORCNc.269G>A (p.Arg90Gln)
n.428G>A
n.451G>A
c.198G>A (p.Pro66=)
c.134G>A (p.Arg45Gln)
c.137-465G>A (n.137-465G>A)
c.390G>A (p.Pro130=)
n.308G>A
c.56G>A (p.Arg19Gln)
c.608G>A (p.Arg203Gln)
c.521G>A (p.Arg174Gln)
c.374G>A (p.Arg125Gln)
c.320G>A (p.Arg107Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
Xg.48511427G>CCA412842188PORCNc.269G>C (p.Arg90Pro)
n.428G>C
n.451G>C
c.198G>C (p.Pro66=)
c.134G>C (p.Arg45Pro)
c.137-465G>C (n.137-465G>C)
c.390G>C (p.Pro130=)
n.308G>C
c.56G>C (p.Arg19Pro)
c.608G>C (p.Arg203Pro)
c.521G>C (p.Arg174Pro)
c.374G>C (p.Arg125Pro)
c.320G>C (p.Arg107Pro)
Xg.48511427G=CA2428293316PORCNc.269G= (p.Arg90=)
n.428G=
n.451G=
c.198G= (p.Pro66=)
c.134G= (p.Arg45=)
c.137-465G= (n.137-465G=)
c.390G= (p.Pro130=)
n.308G=
c.56G= (p.Arg19=)
c.608G= (p.Arg203=)
c.521G= (p.Arg174=)
c.374G= (p.Arg125=)
c.320G= (p.Arg107=)
Xg.48511427G>TCA412842190PORCNc.269G>T (p.Arg90Leu)
n.428G>T
n.451G>T
c.198G>T (p.Pro66=)
c.134G>T (p.Arg45Leu)
c.137-465G>T (n.137-465G>T)
c.390G>T (p.Pro130=)
n.308G>T
c.56G>T (p.Arg19Leu)
c.608G>T (p.Arg203Leu)
c.521G>T (p.Arg174Leu)
c.374G>T (p.Arg125Leu)
c.320G>T (p.Arg107Leu)
Xg.48511428A>CCA516010242PORCNc.270A>C (p.Arg90=)
n.429A>C
n.452A>C
c.199A>C (p.Thr67Pro)
c.135A>C (p.Arg45=)
c.137-464A>C (n.137-464A>C)
c.391A>C (p.Thr131Pro)
n.309A>C
c.57A>C (p.Arg19=)
c.609A>C (p.Arg203=)
c.522A>C (p.Arg174=)
c.375A>C (p.Arg125=)
c.321A>C (p.Arg107=)
Xg.48511428A>GCA516010243PORCNc.270A>G (p.Arg90=)
n.429A>G
n.452A>G
c.199A>G (p.Thr67Ala)
c.135A>G (p.Arg45=)
c.137-464A>G (n.137-464A>G)
c.391A>G (p.Thr131Ala)
n.309A>G
c.57A>G (p.Arg19=)
c.609A>G (p.Arg203=)
c.522A>G (p.Arg174=)
c.375A>G (p.Arg125=)
c.321A>G (p.Arg107=)
 gnomAD v4
Xg.48511428A>TCA516010241PORCNc.270A>T (p.Arg90=)
n.429A>T
n.452A>T
c.199A>T (p.Thr67Ser)
c.135A>T (p.Arg45=)
c.137-464A>T (n.137-464A>T)
c.391A>T (p.Thr131Ser)
n.309A>T
c.57A>T (p.Arg19=)
c.609A>T (p.Arg203=)
c.522A>T (p.Arg174=)
c.375A>T (p.Arg125=)
c.321A>T (p.Arg107=)
Xg.48511429C>ACA412842192PORCNc.271C>A (p.His91Asn)
n.430C>A
n.453C>A
c.200C>A (p.Thr67Lys)
c.136C>A (p.His46Asn)
c.137-463C>A (n.137-463C>A)
c.392C>A (p.Thr131Lys)
n.310C>A
c.58C>A (p.His20Asn)
c.610C>A (p.His204Asn)
c.523C>A (p.His175Asn)
c.376C>A (p.His126Asn)
c.322C>A (p.His108Asn)
Xg.48511429C>GCA412842194PORCNc.271C>G (p.His91Asp)
n.430C>G
n.453C>G
c.200C>G (p.Thr67Arg)
c.136C>G (p.His46Asp)
c.137-463C>G (n.137-463C>G)
c.392C>G (p.Thr131Arg)
n.310C>G
c.58C>G (p.His20Asp)
c.610C>G (p.His204Asp)
c.523C>G (p.His175Asp)
c.376C>G (p.His126Asp)
c.322C>G (p.His108Asp)
Xg.48511429C>TCA412842196PORCNc.271C>T (p.His91Tyr)
n.430C>T
n.453C>T
c.200C>T (p.Thr67Ile)
c.136C>T (p.His46Tyr)
c.137-463C>T (n.137-463C>T)
c.392C>T (p.Thr131Ile)
n.310C>T
c.58C>T (p.His20Tyr)
c.610C>T (p.His204Tyr)
c.523C>T (p.His175Tyr)
c.376C>T (p.His126Tyr)
c.322C>T (p.His108Tyr)
Xg.48511430A>CCA412842197PORCNc.272A>C (p.His91Pro)
n.431A>C
n.454A>C
c.201A>C (p.Thr67=)
c.137A>C (p.His46Pro)
c.137-462A>C (n.137-462A>C)
c.393A>C (p.Thr131=)
n.311A>C
c.59A>C (p.His20Pro)
c.611A>C (p.His204Pro)
c.524A>C (p.His175Pro)
c.377A>C (p.His126Pro)
c.323A>C (p.His108Pro)
Xg.48511430A>GCA412842198PORCNc.272A>G (p.His91Arg)
n.431A>G
n.454A>G
c.201A>G (p.Thr67=)
c.137A>G (p.His46Arg)
c.137-462A>G (n.137-462A>G)
c.393A>G (p.Thr131=)
n.311A>G
c.59A>G (p.His20Arg)
c.611A>G (p.His204Arg)
c.524A>G (p.His175Arg)
c.377A>G (p.His126Arg)
c.323A>G (p.His108Arg)
 gnomAD v4
Xg.48511430A>TCA412842200PORCNc.272A>T (p.His91Leu)
n.431A>T
n.454A>T
c.201A>T (p.Thr67=)
c.137A>T (p.His46Leu)
c.137-462A>T (n.137-462A>T)
c.393A>T (p.Thr131=)
n.311A>T
c.59A>T (p.His20Leu)
c.611A>T (p.His204Leu)
c.524A>T (p.His175Leu)
c.377A>T (p.His126Leu)
c.323A>T (p.His108Leu)
Xg.48511431T>ACA412842202PORCNc.273T>A (p.His91Gln)
n.432T>A
n.455T>A
c.202T>A (p.Phe68Ile)
c.138T>A (p.His46Gln)
c.137-461T>A (n.137-461T>A)
c.394T>A (p.Phe132Ile)
n.312T>A
c.60T>A (p.His20Gln)
c.612T>A (p.His204Gln)
c.525T>A (p.His175Gln)
c.378T>A (p.His126Gln)
c.324T>A (p.His108Gln)
Xg.48511431T>CCA516010244PORCNc.273T>C (p.His91=)
n.432T>C
n.455T>C
c.202T>C (p.Phe68Leu)
c.138T>C (p.His46=)
c.137-461T>C (n.137-461T>C)
c.394T>C (p.Phe132Leu)
n.312T>C
c.60T>C (p.His20=)
c.612T>C (p.His204=)
c.525T>C (p.His175=)
c.378T>C (p.His126=)
c.324T>C (p.His108=)
 COSMIC
Xg.48511431T>GCA412842203PORCNc.273T>G (p.His91Gln)
n.432T>G
n.455T>G
c.202T>G (p.Phe68Val)
c.138T>G (p.His46Gln)
c.137-461T>G (n.137-461T>G)
c.394T>G (p.Phe132Val)
n.312T>G
c.60T>G (p.His20Gln)
c.612T>G (p.His204Gln)
c.525T>G (p.His175Gln)
c.378T>G (p.His126Gln)
c.324T>G (p.His108Gln)
Xg.48511432T>ACA412842208PORCNc.274T>A (p.Ser92Thr)
n.433T>A
n.456T>A
c.203T>A (p.Phe68Tyr)
c.139T>A (p.Ser47Thr)
c.137-460T>A (n.137-460T>A)
c.395T>A (p.Phe132Tyr)
n.313T>A
c.61T>A (p.Ser21Thr)
c.613T>A (p.Ser205Thr)
c.526T>A (p.Ser176Thr)
c.379T>A (p.Ser127Thr)
c.325T>A (p.Ser109Thr)
Xg.48511432T>CCA412842206PORCNc.274T>C (p.Ser92Pro)
n.433T>C
n.456T>C
c.203T>C (p.Phe68Ser)
c.139T>C (p.Ser47Pro)
c.137-460T>C (n.137-460T>C)
c.395T>C (p.Phe132Ser)
n.313T>C
c.61T>C (p.Ser21Pro)
c.613T>C (p.Ser205Pro)
c.526T>C (p.Ser176Pro)
c.379T>C (p.Ser127Pro)
c.325T>C (p.Ser109Pro)
Xg.48511432T>GCA412842204PORCNc.274T>G (p.Ser92Ala)
n.433T>G
n.456T>G
c.203T>G (p.Phe68Cys)
c.139T>G (p.Ser47Ala)
c.137-460T>G (n.137-460T>G)
c.395T>G (p.Phe132Cys)
n.313T>G
c.61T>G (p.Ser21Ala)
c.613T>G (p.Ser205Ala)
c.526T>G (p.Ser176Ala)
c.379T>G (p.Ser127Ala)
c.325T>G (p.Ser109Ala)
Xg.48511433C>ACA412842210PORCNc.275C>A (p.Ser92Tyr)
n.434C>A
n.457C>A
c.204C>A (p.Phe68Leu)
c.140C>A (p.Ser47Tyr)
c.137-459C>A (n.137-459C>A)
c.396C>A (p.Phe132Leu)
n.314C>A
c.62C>A (p.Ser21Tyr)
c.614C>A (p.Ser205Tyr)
c.527C>A (p.Ser176Tyr)
c.380C>A (p.Ser127Tyr)
c.326C>A (p.Ser109Tyr)
Xg.48511433C=CA2428293317PORCNc.275C= (p.Ser92=)
n.434C=
n.457C=
c.204C= (p.Phe68=)
c.140C= (p.Ser47=)
c.137-459C= (n.137-459C=)
c.396C= (p.Phe132=)
n.314C=
c.62C= (p.Ser21=)
c.614C= (p.Ser205=)
c.527C= (p.Ser176=)
c.380C= (p.Ser127=)
c.326C= (p.Ser109=)
Xg.48511433C>GCA412842213PORCNc.275C>G (p.Ser92Cys)
n.434C>G
n.457C>G
c.204C>G (p.Phe68Leu)
c.140C>G (p.Ser47Cys)
c.137-459C>G (n.137-459C>G)
c.396C>G (p.Phe132Leu)
n.314C>G
c.62C>G (p.Ser21Cys)
c.614C>G (p.Ser205Cys)
c.527C>G (p.Ser176Cys)
c.380C>G (p.Ser127Cys)
c.326C>G (p.Ser109Cys)
Xg.48511433C>TCA412842211PORCNc.275C>T (p.Ser92Phe)
n.434C>T
n.457C>T
c.204C>T (p.Phe68=)
c.140C>T (p.Ser47Phe)
c.137-459C>T (n.137-459C>T)
c.396C>T (p.Phe132=)
n.314C>T
c.62C>T (p.Ser21Phe)
c.614C>T (p.Ser205Phe)
c.527C>T (p.Ser176Phe)
c.380C>T (p.Ser127Phe)
c.326C>T (p.Ser109Phe)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.48511434C>ACA516010249PORCNc.276C>A (p.Ser92=)
n.435C>A
n.458C>A
c.205C>A (p.Leu69Ile)
c.141C>A (p.Ser47=)
c.137-458C>A (n.137-458C>A)
c.397C>A (p.Leu133Ile)
n.315C>A
c.63C>A (p.Ser21=)
c.615C>A (p.Ser205=)
c.528C>A (p.Ser176=)
c.381C>A (p.Ser127=)
c.327C>A (p.Ser109=)
Xg.48511434C>GCA516010250PORCNc.276C>G (p.Ser92=)
n.435C>G
n.458C>G
c.205C>G (p.Leu69Val)
c.141C>G (p.Ser47=)
c.137-458C>G (n.137-458C>G)
c.397C>G (p.Leu133Val)
n.315C>G
c.63C>G (p.Ser21=)
c.615C>G (p.Ser205=)
c.528C>G (p.Ser176=)
c.381C>G (p.Ser127=)
c.327C>G (p.Ser109=)
Xg.48511434C>TCA516010251PORCNc.276C>T (p.Ser92=)
n.435C>T
n.458C>T
c.205C>T (p.Leu69Phe)
c.141C>T (p.Ser47=)
c.137-458C>T (n.137-458C>T)
c.397C>T (p.Leu133Phe)
n.315C>T
c.63C>T (p.Ser21=)
c.615C>T (p.Ser205=)
c.528C>T (p.Ser176=)
c.381C>T (p.Ser127=)
c.327C>T (p.Ser109=)
Xg.48511435T>ACA412842215PORCNc.277T>A (p.Ser93Thr)
n.436T>A
n.459T>A
c.206T>A (p.Leu69His)
c.142T>A (p.Ser48Thr)
c.137-457T>A (n.137-457T>A)
c.398T>A (p.Leu133His)
n.316T>A
c.64T>A (p.Ser22Thr)
c.616T>A (p.Ser206Thr)
c.529T>A (p.Ser177Thr)
c.382T>A (p.Ser128Thr)
c.328T>A (p.Ser110Thr)
Xg.48511435T>CCA412842218PORCNc.277T>C (p.Ser93Pro)
n.436T>C
n.459T>C
c.206T>C (p.Leu69Pro)
c.142T>C (p.Ser48Pro)
c.137-457T>C (n.137-457T>C)
c.398T>C (p.Leu133Pro)
n.316T>C
c.64T>C (p.Ser22Pro)
c.616T>C (p.Ser206Pro)
c.529T>C (p.Ser177Pro)
c.382T>C (p.Ser128Pro)
c.328T>C (p.Ser110Pro)
Xg.48511435T>GCA412842217PORCNc.277T>G (p.Ser93Ala)
n.436T>G
n.459T>G
c.206T>G (p.Leu69Arg)
c.142T>G (p.Ser48Ala)
c.137-457T>G (n.137-457T>G)
c.398T>G (p.Leu133Arg)
n.316T>G
c.64T>G (p.Ser22Ala)
c.616T>G (p.Ser206Ala)
c.529T>G (p.Ser177Ala)
c.382T>G (p.Ser128Ala)
c.328T>G (p.Ser110Ala)
Xg.48511436C>ACA412842220PORCNc.278C>A (p.Ser93Tyr)
n.437C>A
n.460C>A
c.207C>A (p.Leu69=)
c.143C>A (p.Ser48Tyr)
c.137-456C>A (n.137-456C>A)
c.399C>A (p.Leu133=)
n.317C>A
c.65C>A (p.Ser22Tyr)
c.617C>A (p.Ser206Tyr)
c.530C>A (p.Ser177Tyr)
c.383C>A (p.Ser128Tyr)
c.329C>A (p.Ser110Tyr)
Xg.48511436C>GCA412842222PORCNc.278C>G (p.Ser93Cys)
n.437C>G
n.460C>G
c.207C>G (p.Leu69=)
c.143C>G (p.Ser48Cys)
c.137-456C>G (n.137-456C>G)
c.399C>G (p.Leu133=)
n.317C>G
c.65C>G (p.Ser22Cys)
c.617C>G (p.Ser206Cys)
c.530C>G (p.Ser177Cys)
c.383C>G (p.Ser128Cys)
c.329C>G (p.Ser110Cys)
Xg.48511436C>TCA412842224PORCNc.278C>T (p.Ser93Phe)
n.437C>T
n.460C>T
c.207C>T (p.Leu69=)
c.143C>T (p.Ser48Phe)
c.137-456C>T (n.137-456C>T)
c.399C>T (p.Leu133=)
n.317C>T
c.65C>T (p.Ser22Phe)
c.617C>T (p.Ser206Phe)
c.530C>T (p.Ser177Phe)
c.383C>T (p.Ser128Phe)
c.329C>T (p.Ser110Phe)
Xg.48511437C>ACA516010255PORCNc.279C>A (p.Ser93=)
n.438C>A
n.461C>A
c.208C>A (p.Pro70Thr)
c.144C>A (p.Ser48=)
c.137-455C>A (n.137-455C>A)
c.400C>A (p.Pro134Thr)
n.318C>A
c.66C>A (p.Ser22=)
c.618C>A (p.Ser206=)
c.531C>A (p.Ser177=)
c.384C>A (p.Ser128=)
c.330C>A (p.Ser110=)
Xg.48511437C=CA2428293318PORCNc.279C= (p.Ser93=)
n.438C=
n.461C=
c.208C= (p.Pro70=)
c.144C= (p.Ser48=)
c.137-455C= (n.137-455C=)
c.400C= (p.Pro134=)
n.318C=
c.66C= (p.Ser22=)
c.618C= (p.Ser206=)
c.531C= (p.Ser177=)
c.384C= (p.Ser128=)
c.330C= (p.Ser110=)
Xg.48511437C>GCA516010256PORCNc.279C>G (p.Ser93=)
n.438C>G
n.461C>G
c.208C>G (p.Pro70Ala)
c.144C>G (p.Ser48=)
c.137-455C>G (n.137-455C>G)
c.400C>G (p.Pro134Ala)
n.318C>G
c.66C>G (p.Ser22=)
c.618C>G (p.Ser206=)
c.531C>G (p.Ser177=)
c.384C>G (p.Ser128=)
c.330C>G (p.Ser110=)
Xg.48511437C>TCA516010258PORCNc.279C>T (p.Ser93=)
n.438C>T
n.461C>T
c.208C>T (p.Pro70Ser)
c.144C>T (p.Ser48=)
c.137-455C>T (n.137-455C>T)
c.400C>T (p.Pro134Ser)
n.318C>T
c.66C>T (p.Ser22=)
c.618C>T (p.Ser206=)
c.531C>T (p.Ser177=)
c.384C>T (p.Ser128=)
c.330C>T (p.Ser110=)
 dbSNP gnomAD v2 gnomAD v4
Xg.48511438C>ACA412842225PORCNc.280C>A (p.His94Asn)
n.439C>A
n.462C>A
c.209C>A (p.Pro70Gln)
c.145C>A (p.His49Asn)
c.137-454C>A (n.137-454C>A)
c.401C>A (p.Pro134Gln)
n.319C>A
c.67C>A (p.His23Asn)
c.619C>A (p.His207Asn)
c.532C>A (p.His178Asn)
c.385C>A (p.His129Asn)
c.331C>A (p.His111Asn)
Xg.48511438C>GCA412842227PORCNc.280C>G (p.His94Asp)
n.439C>G
n.462C>G
c.209C>G (p.Pro70Arg)
c.145C>G (p.His49Asp)
c.137-454C>G (n.137-454C>G)
c.401C>G (p.Pro134Arg)
n.319C>G
c.67C>G (p.His23Asp)
c.619C>G (p.His207Asp)
c.532C>G (p.His178Asp)
c.385C>G (p.His129Asp)
c.331C>G (p.His111Asp)
Xg.48511438C>TCA412842229PORCNc.280C>T (p.His94Tyr)
n.439C>T
n.462C>T
c.209C>T (p.Pro70Leu)
c.145C>T (p.His49Tyr)
c.137-454C>T (n.137-454C>T)
c.401C>T (p.Pro134Leu)
n.319C>T
c.67C>T (p.His23Tyr)
c.619C>T (p.His207Tyr)
c.532C>T (p.His178Tyr)
c.385C>T (p.His129Tyr)
c.331C>T (p.His111Tyr)
Xg.48511439A=CA2428293319PORCNc.281A= (p.His94=)
n.440A=
n.463A=
c.210A= (p.Pro70=)
c.146A= (p.His49=)
c.137-453A= (n.137-453A=)
c.402A= (p.Pro134=)
n.320A=
c.68A= (p.His23=)
c.620A= (p.His207=)
c.533A= (p.His178=)
c.386A= (p.His129=)
c.332A= (p.His111=)
Xg.48511439A>CCA412843096PORCNc.281A>C (p.His94Pro)
n.440A>C
n.463A>C
c.210A>C (p.Pro70=)
c.146A>C (p.His49Pro)
c.137-453A>C (n.137-453A>C)
c.402A>C (p.Pro134=)
n.320A>C
c.68A>C (p.His23Pro)
c.620A>C (p.His207Pro)
c.533A>C (p.His178Pro)
c.386A>C (p.His129Pro)
c.332A>C (p.His111Pro)
Xg.48511439A>GCA412843098PORCNc.281A>G (p.His94Arg)
n.440A>G
n.463A>G
c.210A>G (p.Pro70=)
c.146A>G (p.His49Arg)
c.137-453A>G (n.137-453A>G)
c.402A>G (p.Pro134=)
n.320A>G
c.68A>G (p.His23Arg)
c.620A>G (p.His207Arg)
c.533A>G (p.His178Arg)
c.386A>G (p.His129Arg)
c.332A>G (p.His111Arg)
 dbSNP gnomAD v3 gnomAD v4
Xg.48511439A>TCA412843100PORCNc.281A>T (p.His94Leu)
n.440A>T
n.463A>T
c.210A>T (p.Pro70=)
c.146A>T (p.His49Leu)
c.137-453A>T (n.137-453A>T)
c.402A>T (p.Pro134=)
n.320A>T
c.68A>T (p.His23Leu)
c.620A>T (p.His207Leu)
c.533A>T (p.His178Leu)
c.386A>T (p.His129Leu)
c.332A>T (p.His111Leu)
Xg.48511440T>ACA412843103PORCNc.282T>A (p.His94Gln)
n.441T>A
n.464T>A
c.211T>A (p.Ser71Thr)
c.147T>A (p.His49Gln)
c.137-452T>A (n.137-452T>A)
c.403T>A (p.Ser135Thr)
n.321T>A
c.69T>A (p.His23Gln)
c.621T>A (p.His207Gln)
c.534T>A (p.His178Gln)
c.387T>A (p.His129Gln)
c.333T>A (p.His111Gln)
 dbSNP gnomAD v2 gnomAD v4
Xg.48511440T>CCA516010489PORCNc.282T>C (p.His94=)
n.441T>C
n.464T>C
c.211T>C (p.Ser71Pro)
c.147T>C (p.His49=)
c.137-452T>C (n.137-452T>C)
c.403T>C (p.Ser135Pro)
n.321T>C
c.69T>C (p.His23=)
c.621T>C (p.His207=)
c.534T>C (p.His178=)
c.387T>C (p.His129=)
c.333T>C (p.His111=)
Xg.48511440T>GCA412843104PORCNc.282T>G (p.His94Gln)
n.441T>G
n.464T>G
c.211T>G (p.Ser71Ala)
c.147T>G (p.His49Gln)
c.137-452T>G (n.137-452T>G)
c.403T>G (p.Ser135Ala)
n.321T>G
c.69T>G (p.His23Gln)
c.621T>G (p.His207Gln)
c.534T>G (p.His178Gln)
c.387T>G (p.His129Gln)
c.333T>G (p.His111Gln)
Xg.48511440T=CA2428293320PORCNc.282T= (p.His94=)
n.441T=
n.464T=
c.211T= (p.Ser71=)
c.147T= (p.His49=)
c.137-452T= (n.137-452T=)
c.403T= (p.Ser135=)
n.321T=
c.69T= (p.His23=)
c.621T= (p.His207=)
c.534T= (p.His178=)
c.387T= (p.His129=)
c.333T= (p.His111=)
Xg.48511441C>ACA516010492PORCNc.283C>A (p.Arg95=)
n.442C>A
n.465C>A
c.212C>A (p.Ser71Ter)
c.148C>A (p.Arg50=)
c.137-451C>A (n.137-451C>A)
c.404C>A (p.Ser135Ter)
n.322C>A
c.70C>A (p.Arg24=)
c.622C>A (p.Arg208=)
c.535C>A (p.Arg179=)
c.388C>A (p.Arg130=)
c.334C>A (p.Arg112=)
Xg.48511441C=CA2428293321PORCNc.283C= (p.Arg95=)
n.442C=
n.465C=
c.212C= (p.Ser71=)
c.148C= (p.Arg50=)
c.137-451C= (n.137-451C=)
c.404C= (p.Ser135=)
n.322C=
c.70C= (p.Arg24=)
c.622C= (p.Arg208=)
c.535C= (p.Arg179=)
c.388C= (p.Arg130=)
c.334C= (p.Arg112=)
Xg.48511441C>GCA412843107PORCNc.283C>G (p.Arg95Gly)
n.442C>G
n.465C>G
c.212C>G (p.Ser71Trp)
c.148C>G (p.Arg50Gly)
c.137-451C>G (n.137-451C>G)
c.404C>G (p.Ser135Trp)
n.322C>G
c.70C>G (p.Arg24Gly)
c.622C>G (p.Arg208Gly)
c.535C>G (p.Arg179Gly)
c.388C>G (p.Arg130Gly)
c.334C>G (p.Arg112Gly)
Xg.48511441C>TCA412843109PORCNc.283C>T (p.Arg95Ter)
n.442C>T
n.465C>T
c.212C>T (p.Ser71Leu)
c.148C>T (p.Arg50Ter)
c.137-451C>T (n.137-451C>T)
c.404C>T (p.Ser135Leu)
n.322C>T
c.70C>T (p.Arg24Ter)
c.622C>T (p.Arg208Ter)
c.535C>T (p.Arg179Ter)
c.388C>T (p.Arg130Ter)
c.334C>T (p.Arg112Ter)
 ClinVar dbSNP
Xg.48511442G>ACA10402719PORCNc.284G>A (p.Arg95Gln)
n.443G>A
n.466G>A
c.213G>A (p.Ser71=)
c.149G>A (p.Arg50Gln)
c.137-450G>A (n.137-450G>A)
c.405G>A (p.Ser135=)
n.323G>A
c.71G>A (p.Arg24Gln)
c.623G>A (p.Arg208Gln)
c.536G>A (p.Arg179Gln)
c.389G>A (p.Arg130Gln)
c.335G>A (p.Arg112Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.48511442G>CCA412843115PORCNc.284G>C (p.Arg95Pro)
n.443G>C
n.466G>C
c.213G>C (p.Ser71=)
c.149G>C (p.Arg50Pro)
c.137-450G>C (n.137-450G>C)
c.405G>C (p.Ser135=)
n.323G>C
c.71G>C (p.Arg24Pro)
c.623G>C (p.Arg208Pro)
c.536G>C (p.Arg179Pro)
c.389G>C (p.Arg130Pro)
c.335G>C (p.Arg112Pro)
 gnomAD v4
Xg.48511442G=CA2428293322PORCNc.284G= (p.Arg95=)
n.443G=
n.466G=
c.213G= (p.Ser71=)
c.149G= (p.Arg50=)
c.137-450G= (n.137-450G=)
c.405G= (p.Ser135=)
n.323G=
c.71G= (p.Arg24=)
c.623G= (p.Arg208=)
c.536G= (p.Arg179=)
c.389G= (p.Arg130=)
c.335G= (p.Arg112=)
Xg.48511442G>TCA412843113PORCNc.284G>T (p.Arg95Leu)
n.443G>T
n.466G>T
c.213G>T (p.Ser71=)
c.149G>T (p.Arg50Leu)
c.137-450G>T (n.137-450G>T)
c.405G>T (p.Ser135=)
n.323G>T
c.71G>T (p.Arg24Leu)
c.623G>T (p.Arg208Leu)
c.536G>T (p.Arg179Leu)
c.389G>T (p.Arg130Leu)
c.335G>T (p.Arg112Leu)
Xg.48511443A>CCA516010499PORCNc.285A>C (p.Arg95=)
n.444A>C
n.467A>C
c.214A>C (p.Arg72=)
c.150A>C (p.Arg50=)
c.137-449A>C (n.137-449A>C)
c.406A>C (p.Arg136=)
n.324A>C
c.72A>C (p.Arg24=)
c.624A>C (p.Arg208=)
c.537A>C (p.Arg179=)
c.390A>C (p.Arg130=)
c.336A>C (p.Arg112=)
Xg.48511443A>GCA516010501PORCNc.285A>G (p.Arg95=)
n.444A>G
n.467A>G
c.214A>G (p.Arg72Gly)
c.150A>G (p.Arg50=)
c.137-449A>G (n.137-449A>G)
c.406A>G (p.Arg136Gly)
n.324A>G
c.72A>G (p.Arg24=)
c.624A>G (p.Arg208=)
c.537A>G (p.Arg179=)
c.390A>G (p.Arg130=)
c.336A>G (p.Arg112=)
Xg.48511443A>TCA516010503PORCNc.285A>T (p.Arg95=)
n.444A>T
n.467A>T
c.214A>T (p.Arg72Trp)
c.150A>T (p.Arg50=)
c.137-449A>T (n.137-449A>T)
c.406A>T (p.Arg136Trp)
n.324A>T
c.72A>T (p.Arg24=)
c.624A>T (p.Arg208=)
c.537A>T (p.Arg179=)
c.390A>T (p.Arg130=)
c.336A>T (p.Arg112=)
Xg.48511444G>ACA412843117PORCNc.286G>A (p.Gly96Ser)
n.445G>A
n.468G>A
c.215G>A (p.Arg72Lys)
c.151G>A (p.Gly51Ser)
c.137-448G>A (n.137-448G>A)
c.407G>A (p.Arg136Lys)
n.325G>A
c.73G>A (p.Gly25Ser)
c.625G>A (p.Gly209Ser)
c.538G>A (p.Gly180Ser)
c.391G>A (p.Gly131Ser)
c.337G>A (p.Gly113Ser)
Xg.48511444G>CCA412843119PORCNc.286G>C (p.Gly96Arg)
n.445G>C
n.468G>C
c.215G>C (p.Arg72Thr)
c.151G>C (p.Gly51Arg)
c.137-448G>C (n.137-448G>C)
c.407G>C (p.Arg136Thr)
n.325G>C
c.73G>C (p.Gly25Arg)
c.625G>C (p.Gly209Arg)
c.538G>C (p.Gly180Arg)
c.391G>C (p.Gly131Arg)
c.337G>C (p.Gly113Arg)
Xg.48511444G>TCA412843121PORCNc.286G>T (p.Gly96Cys)
n.445G>T
n.468G>T
c.215G>T (p.Arg72Met)
c.151G>T (p.Gly51Cys)
c.137-448G>T (n.137-448G>T)
c.407G>T (p.Arg136Met)
n.325G>T
c.73G>T (p.Gly25Cys)
c.625G>T (p.Gly209Cys)
c.538G>T (p.Gly180Cys)
c.391G>T (p.Gly131Cys)
c.337G>T (p.Gly113Cys)
Xg.48511445G>ACA412843124PORCNc.287G>A (p.Gly96Asp)
n.446G>A
n.469G>A
c.216G>A (p.Arg72=)
c.152G>A (p.Gly51Asp)
c.137-447G>A (n.137-447G>A)
c.408G>A (p.Arg136=)
n.326G>A
c.74G>A (p.Gly25Asp)
c.626G>A (p.Gly209Asp)
c.539G>A (p.Gly180Asp)
c.392G>A (p.Gly131Asp)
c.338G>A (p.Gly113Asp)
Xg.48511445G>CCA412843126PORCNc.287G>C (p.Gly96Ala)
n.446G>C
n.469G>C
c.216G>C (p.Arg72Ser)
c.152G>C (p.Gly51Ala)
c.137-447G>C (n.137-447G>C)
c.408G>C (p.Arg136Ser)
n.326G>C
c.74G>C (p.Gly25Ala)
c.626G>C (p.Gly209Ala)
c.539G>C (p.Gly180Ala)
c.392G>C (p.Gly131Ala)
c.338G>C (p.Gly113Ala)
Xg.48511445G>TCA412843128PORCNc.287G>T (p.Gly96Val)
n.446G>T
n.469G>T
c.216G>T (p.Arg72Ser)
c.152G>T (p.Gly51Val)
c.137-447G>T (n.137-447G>T)
c.408G>T (p.Arg136Ser)
n.326G>T
c.74G>T (p.Gly25Val)
c.626G>T (p.Gly209Val)
c.539G>T (p.Gly180Val)
c.392G>T (p.Gly131Val)
c.338G>T (p.Gly113Val)

Number of alleles fetched