Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.81934916C>ACA8845413PYCR1c.540+10G>T (n.540+10G>T)
c.621+10G>T (n.621+10G>T)
c.357+10G>T (n.357+10G>T)
c.450+10G>T (n.450+10G>T)
c.501+10G>T (n.501+10G>T)
 dbSNP ExAC gnomAD v4
17g.81934916C=CA2278749756PYCR1c.540+10G= (n.540+10G=)
c.621+10G= (n.621+10G=)
c.357+10G= (n.357+10G=)
c.450+10G= (n.450+10G=)
c.501+10G= (n.501+10G=)
17g.81934916C>TCA2278749757PYCR1c.540+10G>A (n.540+10G>A)
c.621+10G>A (n.621+10G>A)
c.357+10G>A (n.357+10G>A)
c.450+10G>A (n.450+10G>A)
c.501+10G>A (n.501+10G>A)
 dbSNP gnomAD v4
17g.81934917A>GCA2810645698PYCR1c.540+9T>C (n.540+9T>C)
c.621+9T>C (n.621+9T>C)
c.357+9T>C (n.357+9T>C)
c.450+9T>C (n.450+9T>C)
c.501+9T>C (n.501+9T>C)
17g.81934918G>CCA502426316PYCR1c.540+8C>G (n.540+8C>G)
c.621+8C>G (n.621+8C>G)
c.357+8C>G (n.357+8C>G)
c.450+8C>G (n.450+8C>G)
c.501+8C>G (n.501+8C>G)
 dbSNP gnomAD v2 gnomAD v4
17g.81934918G=CA2278749758PYCR1c.540+8C= (n.540+8C=)
c.621+8C= (n.621+8C=)
c.357+8C= (n.357+8C=)
c.450+8C= (n.450+8C=)
c.501+8C= (n.501+8C=)
17g.81934918G>TCA628024656PYCR1c.540+8C>A (n.540+8C>A)
c.621+8C>A (n.621+8C>A)
c.357+8C>A (n.357+8C>A)
c.450+8C>A (n.450+8C>A)
c.501+8C>A (n.501+8C>A)
 dbSNP gnomAD v2
17g.81934919T>CCA2576428652PYCR1c.540+7A>G (n.540+7A>G)
c.621+7A>G (n.621+7A>G)
c.357+7A>G (n.357+7A>G)
c.450+7A>G (n.450+7A>G)
c.501+7A>G (n.501+7A>G)
17g.81934920C>ACA2640547509PYCR1c.540+6G>T (n.540+6G>T)
c.621+6G>T (n.621+6G>T)
c.357+6G>T (n.357+6G>T)
c.450+6G>T (n.450+6G>T)
c.501+6G>T (n.501+6G>T)
 gnomAD v4
17g.81934921C=CA2278749759PYCR1c.540+5G= (n.540+5G=)
c.621+5G= (n.621+5G=)
c.357+5G= (n.357+5G=)
c.450+5G= (n.450+5G=)
c.501+5G= (n.501+5G=)
17g.81934921C>TCA2278749760PYCR1c.540+5G>A (n.540+5G>A)
c.621+5G>A (n.621+5G>A)
c.357+5G>A (n.357+5G>A)
c.450+5G>A (n.450+5G>A)
c.501+5G>A (n.501+5G>A)
 dbSNP gnomAD v4
17g.81934922T>CCA2278749761PYCR1c.540+4A>G (n.540+4A>G)
c.621+4A>G (n.621+4A>G)
c.357+4A>G (n.357+4A>G)
c.450+4A>G (n.450+4A>G)
c.501+4A>G (n.501+4A>G)
 dbSNP
17g.81934922T=CA2278749762PYCR1c.540+4A= (n.540+4A=)
c.621+4A= (n.621+4A=)
c.357+4A= (n.357+4A=)
c.450+4A= (n.450+4A=)
c.501+4A= (n.501+4A=)
17g.81934923T>CCA2278749764PYCR1c.540+3A>G (n.540+3A>G)
c.621+3A>G (n.621+3A>G)
c.357+3A>G (n.357+3A>G)
c.450+3A>G (n.450+3A>G)
c.501+3A>G (n.501+3A>G)
 dbSNP
17g.81934923T=CA2278749763PYCR1c.540+3A= (n.540+3A=)
c.621+3A= (n.621+3A=)
c.357+3A= (n.357+3A=)
c.450+3A= (n.450+3A=)
c.501+3A= (n.501+3A=)
17g.81934924A>CCA401538076PYCR1c.540+2T>G (n.540+2T>G)
c.621+2T>G (n.621+2T>G)
c.357+2T>G (n.357+2T>G)
c.450+2T>G (n.450+2T>G)
c.501+2T>G (n.501+2T>G)
17g.81934924A>GCA401538079PYCR1c.540+2T>C (n.540+2T>C)
c.621+2T>C (n.621+2T>C)
c.357+2T>C (n.357+2T>C)
c.450+2T>C (n.450+2T>C)
c.501+2T>C (n.501+2T>C)
17g.81934924A>TCA401538081PYCR1c.540+2T>A (n.540+2T>A)
c.621+2T>A (n.621+2T>A)
c.357+2T>A (n.357+2T>A)
c.450+2T>A (n.450+2T>A)
c.501+2T>A (n.501+2T>A)
17g.81934924dupCA628024657PYCR1c.540+2dup (n.540+2dup)
c.621+2dup (n.621+2dup)
c.357+2dup (n.357+2dup)
c.450+2dup (n.450+2dup)
c.501+2dup (n.501+2dup)
 dbSNP gnomAD v2 gnomAD v4
17g.81934925C>ACA401538084PYCR1c.540+1G>T (n.540+1G>T)
c.621+1G>T (n.621+1G>T)
c.357+1G>T (n.357+1G>T)
c.450+1G>T (n.450+1G>T)
c.501+1G>T (n.501+1G>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.81934925C=CA2278749765PYCR1c.540+1G= (n.540+1G=)
c.621+1G= (n.621+1G=)
c.357+1G= (n.357+1G=)
c.450+1G= (n.450+1G=)
c.501+1G= (n.501+1G=)
17g.81934925C>GCA401538086PYCR1c.540+1G>C (n.540+1G>C)
c.621+1G>C (n.621+1G>C)
c.357+1G>C (n.357+1G>C)
c.450+1G>C (n.450+1G>C)
c.501+1G>C (n.501+1G>C)
 dbSNP gnomAD v4
17g.81934925C>TCA501020PYCR1c.540+1G>A (n.540+1G>A)
c.621+1G>A (n.621+1G>A)
c.357+1G>A (n.357+1G>A)
c.450+1G>A (n.450+1G>A)
c.501+1G>A (n.501+1G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.81934926G>ACA8845414PYCR1c.540C>T (p.Tyr180=)
c.621C>T (p.Tyr207=)
c.357C>T (p.Tyr119=)
c.450C>T (p.Tyr150=)
c.501C>T (p.Tyr167=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.81934926G>CCA401538090PYCR1c.540C>G (p.Tyr180Ter)
c.621C>G (p.Tyr207Ter)
c.357C>G (p.Tyr119Ter)
c.450C>G (p.Tyr150Ter)
c.501C>G (p.Tyr167Ter)
17g.81934926G=CA2278749766PYCR1c.540C= (p.Tyr180=)
c.621C= (p.Tyr207=)
c.357C= (p.Tyr119=)
c.450C= (p.Tyr150=)
c.501C= (p.Tyr167=)
17g.81934926G>TCA401538092PYCR1c.540C>A (p.Tyr180Ter)
c.621C>A (p.Tyr207Ter)
c.357C>A (p.Tyr119Ter)
c.450C>A (p.Tyr150Ter)
c.501C>A (p.Tyr167Ter)
 gnomAD v4
17g.81934927T>ACA401538094PYCR1c.539A>T (p.Tyr180Phe)
c.620A>T (p.Tyr207Phe)
c.356A>T (p.Tyr119Phe)
c.449A>T (p.Tyr150Phe)
c.500A>T (p.Tyr167Phe)
17g.81934927T>CCA401538096PYCR1c.539A>G (p.Tyr180Cys)
c.620A>G (p.Tyr207Cys)
c.356A>G (p.Tyr119Cys)
c.449A>G (p.Tyr150Cys)
c.500A>G (p.Tyr167Cys)
17g.81934927T>GCA401538098PYCR1c.539A>C (p.Tyr180Ser)
c.620A>C (p.Tyr207Ser)
c.356A>C (p.Tyr119Ser)
c.449A>C (p.Tyr150Ser)
c.500A>C (p.Tyr167Ser)
17g.81934928A=CA2278749767PYCR1c.538T= (p.Tyr180=)
c.619T= (p.Tyr207=)
c.355T= (p.Tyr119=)
c.448T= (p.Tyr150=)
c.499T= (p.Tyr167=)
17g.81934928A>CCA401538104PYCR1c.538T>G (p.Tyr180Asp)
c.619T>G (p.Tyr207Asp)
c.355T>G (p.Tyr119Asp)
c.448T>G (p.Tyr150Asp)
c.499T>G (p.Tyr167Asp)
17g.81934928A>GCA401538100PYCR1c.538T>C (p.Tyr180His)
c.619T>C (p.Tyr207His)
c.355T>C (p.Tyr119His)
c.448T>C (p.Tyr150His)
c.499T>C (p.Tyr167His)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.81934928A>TCA401538103PYCR1c.538T>A (p.Tyr180Asn)
c.619T>A (p.Tyr207Asn)
c.355T>A (p.Tyr119Asn)
c.448T>A (p.Tyr150Asn)
c.499T>A (p.Tyr167Asn)
17g.81934929G>ACA8845415PYCR1c.537C>T (p.Ala179=)
c.618C>T (p.Ala206=)
c.354C>T (p.Ala118=)
c.447C>T (p.Ala149=)
c.498C>T (p.Ala166=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.81934929G>CCA502426320PYCR1c.537C>G (p.Ala179=)
c.618C>G (p.Ala206=)
c.354C>G (p.Ala118=)
c.447C>G (p.Ala149=)
c.498C>G (p.Ala166=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.81934929G=CA2278749768PYCR1c.537C= (p.Ala179=)
c.618C= (p.Ala206=)
c.354C= (p.Ala118=)
c.447C= (p.Ala149=)
c.498C= (p.Ala166=)
17g.81934929G>TCA502426321PYCR1c.537C>A (p.Ala179=)
c.618C>A (p.Ala206=)
c.354C>A (p.Ala118=)
c.447C>A (p.Ala149=)
c.498C>A (p.Ala166=)
 gnomAD v4
17g.81934930G>ACA401538107PYCR1c.536C>T (p.Ala179Val)
c.617C>T (p.Ala206Val)
c.353C>T (p.Ala118Val)
c.446C>T (p.Ala149Val)
c.497C>T (p.Ala166Val)
 dbSNP gnomAD v2 gnomAD v4
17g.81934930G>CCA401538108PYCR1c.536C>G (p.Ala179Gly)
c.617C>G (p.Ala206Gly)
c.353C>G (p.Ala118Gly)
c.446C>G (p.Ala149Gly)
c.497C>G (p.Ala166Gly)
17g.81934930G=CA2278749769PYCR1c.536C= (p.Ala179=)
c.617C= (p.Ala206=)
c.353C= (p.Ala118=)
c.446C= (p.Ala149=)
c.497C= (p.Ala166=)
17g.81934930G>TCA401538111PYCR1c.536C>A (p.Ala179Asp)
c.617C>A (p.Ala206Asp)
c.353C>A (p.Ala118Asp)
c.446C>A (p.Ala149Asp)
c.497C>A (p.Ala166Asp)
17g.81934931C>ACA401538113PYCR1c.535G>T (p.Ala179Ser)
c.616G>T (p.Ala206Ser)
c.352G>T (p.Ala118Ser)
c.445G>T (p.Ala149Ser)
c.496G>T (p.Ala166Ser)
17g.81934931C=CA2278749770PYCR1c.535G= (p.Ala179=)
c.616G= (p.Ala206=)
c.352G= (p.Ala118=)
c.445G= (p.Ala149=)
c.496G= (p.Ala166=)
17g.81934931C>GCA401538115PYCR1c.535G>C (p.Ala179Pro)
c.616G>C (p.Ala206Pro)
c.352G>C (p.Ala118Pro)
c.445G>C (p.Ala149Pro)
c.496G>C (p.Ala166Pro)
17g.81934931C>TCA8845416PYCR1c.535G>A (p.Ala179Thr)
c.616G>A (p.Ala206Thr)
c.352G>A (p.Ala118Thr)
c.445G>A (p.Ala149Thr)
c.496G>A (p.Ala166Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.81934932G>ACA8845417PYCR1c.534C>T (p.Pro178=)
c.615C>T (p.Pro205=)
c.351C>T (p.Pro117=)
c.444C>T (p.Pro148=)
c.495C>T (p.Pro165=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.81934932G>CCA502426322PYCR1c.534C>G (p.Pro178=)
c.615C>G (p.Pro205=)
c.351C>G (p.Pro117=)
c.444C>G (p.Pro148=)
c.495C>G (p.Pro165=)
17g.81934932G=CA2278749771PYCR1c.534C= (p.Pro178=)
c.615C= (p.Pro205=)
c.351C= (p.Pro117=)
c.444C= (p.Pro148=)
c.495C= (p.Pro165=)
17g.81934932G>TCA502426323PYCR1c.534C>A (p.Pro178=)
c.615C>A (p.Pro205=)
c.351C>A (p.Pro117=)
c.444C>A (p.Pro148=)
c.495C>A (p.Pro165=)
 gnomAD v4
17g.81934935delCA2576428653PYCR1c.534del (p.Ala179ProfsTer15)
c.615del (p.Ala206ProfsTer15)
c.534del (p.Ala179ProfsTer?)
c.351del (p.Ala118ProfsTer15)
c.444del (p.Ala149ProfsTer15)
c.495del (p.Ala166ProfsTer?)
17g.81934933G>ACA401538120PYCR1c.533C>T (p.Pro178Leu)
c.614C>T (p.Pro205Leu)
c.350C>T (p.Pro117Leu)
c.443C>T (p.Pro148Leu)
c.494C>T (p.Pro165Leu)
17g.81934933G>CCA401538122PYCR1c.533C>G (p.Pro178Arg)
c.614C>G (p.Pro205Arg)
c.350C>G (p.Pro117Arg)
c.443C>G (p.Pro148Arg)
c.494C>G (p.Pro165Arg)
17g.81934933G>TCA401538124PYCR1c.533C>A (p.Pro178His)
c.614C>A (p.Pro205His)
c.350C>A (p.Pro117His)
c.443C>A (p.Pro148His)
c.494C>A (p.Pro165His)
17g.81934934G>ACA401538130PYCR1c.532C>T (p.Pro178Ser)
c.613C>T (p.Pro205Ser)
c.349C>T (p.Pro117Ser)
c.442C>T (p.Pro148Ser)
c.493C>T (p.Pro165Ser)
17g.81934934G>CCA401538128PYCR1c.532C>G (p.Pro178Ala)
c.613C>G (p.Pro205Ala)
c.349C>G (p.Pro117Ala)
c.442C>G (p.Pro148Ala)
c.493C>G (p.Pro165Ala)
17g.81934934G>TCA401538126PYCR1c.532C>A (p.Pro178Thr)
c.613C>A (p.Pro205Thr)
c.349C>A (p.Pro117Thr)
c.442C>A (p.Pro148Thr)
c.493C>A (p.Pro165Thr)
17g.81934935G>ACA8845418PYCR1c.531C>T (p.Gly177=)
c.612C>T (p.Gly204=)
c.348C>T (p.Gly116=)
c.441C>T (p.Gly147=)
c.492C>T (p.Gly164=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.81934935G>CCA502426327PYCR1c.531C>G (p.Gly177=)
c.612C>G (p.Gly204=)
c.348C>G (p.Gly116=)
c.441C>G (p.Gly147=)
c.492C>G (p.Gly164=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.81934935G=CA2278749772PYCR1c.531C= (p.Gly177=)
c.612C= (p.Gly204=)
c.348C= (p.Gly116=)
c.441C= (p.Gly147=)
c.492C= (p.Gly164=)
17g.81934935G>TCA502426328PYCR1c.531C>A (p.Gly177=)
c.612C>A (p.Gly204=)
c.348C>A (p.Gly116=)
c.441C>A (p.Gly147=)
c.492C>A (p.Gly164=)
17g.81934936C>ACA401538137PYCR1c.530G>T (p.Gly177Val)
c.611G>T (p.Gly204Val)
c.347G>T (p.Gly116Val)
c.440G>T (p.Gly147Val)
c.491G>T (p.Gly164Val)
 dbSNP gnomAD v3 gnomAD v4
17g.81934936C=CA2278749773PYCR1c.530G= (p.Gly177=)
c.611G= (p.Gly204=)
c.347G= (p.Gly116=)
c.440G= (p.Gly147=)
c.491G= (p.Gly164=)
17g.81934936C>GCA401538135PYCR1c.530G>C (p.Gly177Ala)
c.611G>C (p.Gly204Ala)
c.347G>C (p.Gly116Ala)
c.440G>C (p.Gly147Ala)
c.491G>C (p.Gly164Ala)
17g.81934936C>TCA401538138PYCR1c.530G>A (p.Gly177Asp)
c.611G>A (p.Gly204Asp)
c.347G>A (p.Gly116Asp)
c.440G>A (p.Gly147Asp)
c.491G>A (p.Gly164Asp)
 gnomAD v4
17g.81934937C>ACA401538140PYCR1c.529G>T (p.Gly177Cys)
c.610G>T (p.Gly204Cys)
c.346G>T (p.Gly116Cys)
c.439G>T (p.Gly147Cys)
c.490G>T (p.Gly164Cys)
17g.81934937C=CA2278749774PYCR1c.529G= (p.Gly177=)
c.610G= (p.Gly204=)
c.346G= (p.Gly116=)
c.439G= (p.Gly147=)
c.490G= (p.Gly164=)
17g.81934937C>GCA401538143PYCR1c.529G>C (p.Gly177Arg)
c.610G>C (p.Gly204Arg)
c.346G>C (p.Gly116Arg)
c.439G>C (p.Gly147Arg)
c.490G>C (p.Gly164Arg)
17g.81934937C>TCA8845419PYCR1c.529G>A (p.Gly177Ser)
c.610G>A (p.Gly204Ser)
c.346G>A (p.Gly116Ser)
c.439G>A (p.Gly147Ser)
c.490G>A (p.Gly164Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.81934938G>ACA8845420PYCR1c.528C>T (p.Ser176=)
c.609C>T (p.Ser203=)
c.345C>T (p.Ser115=)
c.438C>T (p.Ser146=)
c.489C>T (p.Ser163=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.81934938G>CCA401538146PYCR1c.528C>G (p.Ser176Arg)
c.609C>G (p.Ser203Arg)
c.345C>G (p.Ser115Arg)
c.438C>G (p.Ser146Arg)
c.489C>G (p.Ser163Arg)
 gnomAD v4
17g.81934938G=CA2278749775PYCR1c.528C= (p.Ser176=)
c.609C= (p.Ser203=)
c.345C= (p.Ser115=)
c.438C= (p.Ser146=)
c.489C= (p.Ser163=)
17g.81934938G>TCA401538148PYCR1c.528C>A (p.Ser176Arg)
c.609C>A (p.Ser203Arg)
c.345C>A (p.Ser115Arg)
c.438C>A (p.Ser146Arg)
c.489C>A (p.Ser163Arg)
17g.81934939C>ACA401538153PYCR1c.527G>T (p.Ser176Ile)
c.608G>T (p.Ser203Ile)
c.344G>T (p.Ser115Ile)
c.437G>T (p.Ser146Ile)
c.488G>T (p.Ser163Ile)
17g.81934939C=CA2278749776PYCR1c.527G= (p.Ser176=)
c.608G= (p.Ser203=)
c.344G= (p.Ser115=)
c.437G= (p.Ser146=)
c.488G= (p.Ser163=)
17g.81934939C>GCA401538151PYCR1c.527G>C (p.Ser176Thr)
c.608G>C (p.Ser203Thr)
c.344G>C (p.Ser115Thr)
c.437G>C (p.Ser146Thr)
c.488G>C (p.Ser163Thr)
17g.81934939C>TCA8845421PYCR1c.527G>A (p.Ser176Asn)
c.608G>A (p.Ser203Asn)
c.344G>A (p.Ser115Asn)
c.437G>A (p.Ser146Asn)
c.488G>A (p.Ser163Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.81934940T>ACA401538155PYCR1c.526A>T (p.Ser176Cys)
c.607A>T (p.Ser203Cys)
c.343A>T (p.Ser115Cys)
c.436A>T (p.Ser146Cys)
c.487A>T (p.Ser163Cys)
17g.81934940T>CCA401538157PYCR1c.526A>G (p.Ser176Gly)
c.607A>G (p.Ser203Gly)
c.343A>G (p.Ser115Gly)
c.436A>G (p.Ser146Gly)
c.487A>G (p.Ser163Gly)
17g.81934940T>GCA401538158PYCR1c.526A>C (p.Ser176Arg)
c.607A>C (p.Ser203Arg)
c.343A>C (p.Ser115Arg)
c.436A>C (p.Ser146Arg)
c.487A>C (p.Ser163Arg)
17g.81934941G>ACA502426357PYCR1c.525C>T (p.Gly175=)
c.606C>T (p.Gly202=)
c.342C>T (p.Gly114=)
c.435C>T (p.Gly145=)
c.486C>T (p.Gly162=)
17g.81934941G>CCA502426353PYCR1c.525C>G (p.Gly175=)
c.606C>G (p.Gly202=)
c.342C>G (p.Gly114=)
c.435C>G (p.Gly145=)
c.486C>G (p.Gly162=)
 dbSNP
17g.81934941G=CA2278749777PYCR1c.525C= (p.Gly175=)
c.606C= (p.Gly202=)
c.342C= (p.Gly114=)
c.435C= (p.Gly145=)
c.486C= (p.Gly162=)
17g.81934941G>TCA502426354PYCR1c.525C>A (p.Gly175=)
c.606C>A (p.Gly202=)
c.342C>A (p.Gly114=)
c.435C>A (p.Gly145=)
c.486C>A (p.Gly162=)
17g.81934942C>ACA401538160PYCR1c.524G>T (p.Gly175Val)
c.605G>T (p.Gly202Val)
c.341G>T (p.Gly114Val)
c.434G>T (p.Gly145Val)
c.485G>T (p.Gly162Val)
17g.81934942C>GCA401538161PYCR1c.524G>C (p.Gly175Ala)
c.605G>C (p.Gly202Ala)
c.341G>C (p.Gly114Ala)
c.434G>C (p.Gly145Ala)
c.485G>C (p.Gly162Ala)
17g.81934942C>TCA401538163PYCR1c.524G>A (p.Gly175Asp)
c.605G>A (p.Gly202Asp)
c.341G>A (p.Gly114Asp)
c.434G>A (p.Gly145Asp)
c.485G>A (p.Gly162Asp)
 gnomAD v4
17g.81934943C>ACA401538165PYCR1c.523G>T (p.Gly175Cys)
c.604G>T (p.Gly202Cys)
c.340G>T (p.Gly114Cys)
c.433G>T (p.Gly145Cys)
c.484G>T (p.Gly162Cys)
17g.81934943C=CA2278749778PYCR1c.523G= (p.Gly175=)
c.604G= (p.Gly202=)
c.340G= (p.Gly114=)
c.433G= (p.Gly145=)
c.484G= (p.Gly162=)
17g.81934943C>GCA401538170PYCR1c.523G>C (p.Gly175Arg)
c.604G>C (p.Gly202Arg)
c.340G>C (p.Gly114Arg)
c.433G>C (p.Gly145Arg)
c.484G>C (p.Gly162Arg)
17g.81934943C>TCA8845422PYCR1c.523G>A (p.Gly175Ser)
c.604G>A (p.Gly202Ser)
c.340G>A (p.Gly114Ser)
c.433G>A (p.Gly145Ser)
c.484G>A (p.Gly162Ser)
 dbSNP ExAC gnomAD v4
17g.81934944A>CCA401538171PYCR1c.522T>G (p.Ser174Arg)
c.603T>G (p.Ser201Arg)
c.339T>G (p.Ser113Arg)
c.432T>G (p.Ser144Arg)
c.483T>G (p.Ser161Arg)
 gnomAD v4
17g.81934944A>GCA502426360PYCR1c.522T>C (p.Ser174=)
c.603T>C (p.Ser201=)
c.339T>C (p.Ser113=)
c.432T>C (p.Ser144=)
c.483T>C (p.Ser161=)
17g.81934944A>TCA401538174PYCR1c.522T>A (p.Ser174Arg)
c.603T>A (p.Ser201Arg)
c.339T>A (p.Ser113Arg)
c.432T>A (p.Ser144Arg)
c.483T>A (p.Ser161Arg)
17g.81934945C>ACA401538175PYCR1c.521G>T (p.Ser174Ile)
c.602G>T (p.Ser201Ile)
c.338G>T (p.Ser113Ile)
c.431G>T (p.Ser144Ile)
c.482G>T (p.Ser161Ile)
17g.81934945C=CA2278749779PYCR1c.521G= (p.Ser174=)
c.602G= (p.Ser201=)
c.338G= (p.Ser113=)
c.431G= (p.Ser144=)
c.482G= (p.Ser161=)
17g.81934945C>GCA401538176PYCR1c.521G>C (p.Ser174Thr)
c.602G>C (p.Ser201Thr)
c.338G>C (p.Ser113Thr)
c.431G>C (p.Ser144Thr)
c.482G>C (p.Ser161Thr)
17g.81934945C>TCA401538177PYCR1c.521G>A (p.Ser174Asn)
c.602G>A (p.Ser201Asn)
c.338G>A (p.Ser113Asn)
c.431G>A (p.Ser144Asn)
c.482G>A (p.Ser161Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.81934946T>ACA401538178PYCR1c.520A>T (p.Ser174Cys)
c.601A>T (p.Ser201Cys)
c.337A>T (p.Ser113Cys)
c.430A>T (p.Ser144Cys)
c.481A>T (p.Ser161Cys)
17g.81934946T>CCA401538180PYCR1c.520A>G (p.Ser174Gly)
c.601A>G (p.Ser201Gly)
c.337A>G (p.Ser113Gly)
c.430A>G (p.Ser144Gly)
c.481A>G (p.Ser161Gly)
17g.81934946T>GCA401538182PYCR1c.520A>C (p.Ser174Arg)
c.601A>C (p.Ser201Arg)
c.337A>C (p.Ser113Arg)
c.430A>C (p.Ser144Arg)
c.481A>C (p.Ser161Arg)
17g.81934947G>ACA8845423PYCR1c.519C>T (p.Leu173=)
c.600C>T (p.Leu200=)
c.336C>T (p.Leu112=)
c.429C>T (p.Leu143=)
c.480C>T (p.Leu160=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.81934947G>CCA502426363PYCR1c.519C>G (p.Leu173=)
c.600C>G (p.Leu200=)
c.336C>G (p.Leu112=)
c.429C>G (p.Leu143=)
c.480C>G (p.Leu160=)
17g.81934947G=CA2278749780PYCR1c.519C= (p.Leu173=)
c.600C= (p.Leu200=)
c.336C= (p.Leu112=)
c.429C= (p.Leu143=)
c.480C= (p.Leu160=)
17g.81934947G>TCA502426364PYCR1c.519C>A (p.Leu173=)
c.600C>A (p.Leu200=)
c.336C>A (p.Leu112=)
c.429C>A (p.Leu143=)
c.480C>A (p.Leu160=)
17g.81934948_81934949insTGCCGGTAATATTGTGGACA2810645700PYCR1c.519_520insCACAATATTACCGGCATC (p.Leu173_Ser174insHisAsnIleThrGlyIle)
c.600_601insCACAATATTACCGGCATC (p.Leu200_Ser201insHisAsnIleThrGlyIle)
c.336_337insCACAATATTACCGGCATC (p.Leu112_Ser113insHisAsnIleThrGlyIle)
c.429_430insCACAATATTACCGGCATC (p.Leu143_Ser144insHisAsnIleThrGlyIle)
c.480_481insCACAATATTACCGGCATC (p.Leu160_Ser161insHisAsnIleThrGlyIle)
17g.81934948A>CCA401538186PYCR1c.518T>G (p.Leu173Arg)
c.599T>G (p.Leu200Arg)
c.335T>G (p.Leu112Arg)
c.428T>G (p.Leu143Arg)
c.479T>G (p.Leu160Arg)
17g.81934948A>GCA401538187PYCR1c.518T>C (p.Leu173Pro)
c.599T>C (p.Leu200Pro)
c.335T>C (p.Leu112Pro)
c.428T>C (p.Leu143Pro)
c.479T>C (p.Leu160Pro)
17g.81934948A>TCA401538189PYCR1c.518T>A (p.Leu173His)
c.599T>A (p.Leu200His)
c.335T>A (p.Leu112His)
c.428T>A (p.Leu143His)
c.479T>A (p.Leu160His)
17g.81934948_81934949insTCA2549230953PYCR1c.517_518insA (p.Leu173HisfsTer18)
c.598_599insA (p.Leu200HisfsTer18)
c.517_518insA (p.Leu173HisfsTer?)
c.334_335insA (p.Leu112HisfsTer18)
c.427_428insA (p.Leu143HisfsTer18)
c.478_479insA (p.Leu160HisfsTer?)
17g.81934949G>ACA401538196PYCR1c.517C>T (p.Leu173Phe)
c.598C>T (p.Leu200Phe)
c.334C>T (p.Leu112Phe)
c.427C>T (p.Leu143Phe)
c.478C>T (p.Leu160Phe)
 gnomAD v4
17g.81934949G>CCA401538192PYCR1c.517C>G (p.Leu173Val)
c.598C>G (p.Leu200Val)
c.334C>G (p.Leu112Val)
c.427C>G (p.Leu143Val)
c.478C>G (p.Leu160Val)
17g.81934949G=CA2278749781PYCR1c.517C= (p.Leu173=)
c.598C= (p.Leu200=)
c.334C= (p.Leu112=)
c.427C= (p.Leu143=)
c.478C= (p.Leu160=)
17g.81934949G>TCA401538195PYCR1c.517C>A (p.Leu173Ile)
c.598C>A (p.Leu200Ile)
c.334C>A (p.Leu112Ile)
c.427C>A (p.Leu143Ile)
c.478C>A (p.Leu160Ile)
 dbSNP gnomAD v2 gnomAD v4
17g.81934949_81934980delCA2739268504PYCR1c.486_517del (p.Glu163GlnfsTer17)
c.567_598del (p.Glu190GlnfsTer17)
c.486_517del (p.Glu163GlnfsTer?)
c.303_334del (p.Glu102GlnfsTer17)
c.396_427del (p.Glu133GlnfsTer17)
c.447_478del (p.Glu150GlnfsTer?)
 ClinVar
17g.81934950C>ACA502426369PYCR1c.516G>T (p.Gly172=)
c.597G>T (p.Gly199=)
c.333G>T (p.Gly111=)
c.426G>T (p.Gly142=)
c.477G>T (p.Gly159=)
17g.81934950C=CA2278749782PYCR1c.516G= (p.Gly172=)
c.597G= (p.Gly199=)
c.333G= (p.Gly111=)
c.426G= (p.Gly142=)
c.477G= (p.Gly159=)
17g.81934950C>GCA502426370PYCR1c.516G>C (p.Gly172=)
c.597G>C (p.Gly199=)
c.333G>C (p.Gly111=)
c.426G>C (p.Gly142=)
c.477G>C (p.Gly159=)
17g.81934950C>TCA502426371PYCR1c.516G>A (p.Gly172=)
c.597G>A (p.Gly199=)
c.333G>A (p.Gly111=)
c.426G>A (p.Gly142=)
c.477G>A (p.Gly159=)
 ClinVar dbSNP gnomAD v4
17g.81934951C>ACA8845424PYCR1c.515G>T (p.Gly172Val)
c.596G>T (p.Gly199Val)
c.332G>T (p.Gly111Val)
c.425G>T (p.Gly142Val)
c.476G>T (p.Gly159Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.81934951C=CA2278749783PYCR1c.515G= (p.Gly172=)
c.596G= (p.Gly199=)
c.332G= (p.Gly111=)
c.425G= (p.Gly142=)
c.476G= (p.Gly159=)
17g.81934951C>GCA8845425PYCR1c.515G>C (p.Gly172Ala)
c.596G>C (p.Gly199Ala)
c.332G>C (p.Gly111Ala)
c.425G>C (p.Gly142Ala)
c.476G>C (p.Gly159Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.81934951C>TCA401538201PYCR1c.515G>A (p.Gly172Glu)
c.596G>A (p.Gly199Glu)
c.332G>A (p.Gly111Glu)
c.425G>A (p.Gly142Glu)
c.476G>A (p.Gly159Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.81934952C>ACA401538204PYCR1c.514G>T (p.Gly172Trp)
c.595G>T (p.Gly199Trp)
c.331G>T (p.Gly111Trp)
c.424G>T (p.Gly142Trp)
c.475G>T (p.Gly159Trp)
17g.81934952C>GCA401538206PYCR1c.514G>C (p.Gly172Arg)
c.595G>C (p.Gly199Arg)
c.331G>C (p.Gly111Arg)
c.424G>C (p.Gly142Arg)
c.475G>C (p.Gly159Arg)
17g.81934952C>TCA401538208PYCR1c.514G>A (p.Gly172Arg)
c.595G>A (p.Gly199Arg)
c.331G>A (p.Gly111Arg)
c.424G>A (p.Gly142Arg)
c.475G>A (p.Gly159Arg)
17g.81934953C>ACA502426373PYCR1c.513G>T (p.Thr171=)
c.594G>T (p.Thr198=)
c.330G>T (p.Thr110=)
c.423G>T (p.Thr141=)
c.474G>T (p.Thr158=)
17g.81934953C=CA2278749784PYCR1c.513G= (p.Thr171=)
c.594G= (p.Thr198=)
c.330G= (p.Thr110=)
c.423G= (p.Thr141=)
c.474G= (p.Thr158=)
17g.81934953C>GCA502426374PYCR1c.513G>C (p.Thr171=)
c.594G>C (p.Thr198=)
c.330G>C (p.Thr110=)
c.423G>C (p.Thr141=)
c.474G>C (p.Thr158=)
17g.81934953C>TCA8845426PYCR1c.513G>A (p.Thr171=)
c.594G>A (p.Thr198=)
c.330G>A (p.Thr110=)
c.423G>A (p.Thr141=)
c.474G>A (p.Thr158=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.81934954G>ACA295137736PYCR1c.512C>T (p.Thr171Met)
c.593C>T (p.Thr198Met)
c.329C>T (p.Thr110Met)
c.422C>T (p.Thr141Met)
c.473C>T (p.Thr158Met)
 dbSNP COSMIC COSMIC
17g.81934954G>CCA401538211PYCR1c.512C>G (p.Thr171Arg)
c.593C>G (p.Thr198Arg)
c.329C>G (p.Thr110Arg)
c.422C>G (p.Thr141Arg)
c.473C>G (p.Thr158Arg)
17g.81934954G=CA2278749785PYCR1c.512C= (p.Thr171=)
c.593C= (p.Thr198=)
c.329C= (p.Thr110=)
c.422C= (p.Thr141=)
c.473C= (p.Thr158=)
17g.81934954G>TCA401538214PYCR1c.512C>A (p.Thr171Lys)
c.593C>A (p.Thr198Lys)
c.329C>A (p.Thr110Lys)
c.422C>A (p.Thr141Lys)
c.473C>A (p.Thr158Lys)
17g.81934955T>ACA401538216PYCR1c.511A>T (p.Thr171Ser)
c.592A>T (p.Thr198Ser)
c.328A>T (p.Thr110Ser)
c.421A>T (p.Thr141Ser)
c.472A>T (p.Thr158Ser)
17g.81934955T>CCA401538218PYCR1c.511A>G (p.Thr171Ala)
c.592A>G (p.Thr198Ala)
c.328A>G (p.Thr110Ala)
c.421A>G (p.Thr141Ala)
c.472A>G (p.Thr158Ala)
17g.81934955T>GCA401538220PYCR1c.511A>C (p.Thr171Pro)
c.592A>C (p.Thr198Pro)
c.328A>C (p.Thr110Pro)
c.421A>C (p.Thr141Pro)
c.472A>C (p.Thr158Pro)
17g.81934956G>ACA502426375PYCR1c.510C>T (p.Val170=)
c.591C>T (p.Val197=)
c.327C>T (p.Val109=)
c.420C>T (p.Val140=)
c.471C>T (p.Val157=)
17g.81934956G>CCA502426376PYCR1c.510C>G (p.Val170=)
c.591C>G (p.Val197=)
c.327C>G (p.Val109=)
c.420C>G (p.Val140=)
c.471C>G (p.Val157=)
17g.81934956G>TCA502426377PYCR1c.510C>A (p.Val170=)
c.591C>A (p.Val197=)
c.327C>A (p.Val109=)
c.420C>A (p.Val140=)
c.471C>A (p.Val157=)
 gnomAD v4
17g.81934957A>CCA401538226PYCR1c.509T>G (p.Val170Gly)
c.590T>G (p.Val197Gly)
c.326T>G (p.Val109Gly)
c.419T>G (p.Val140Gly)
c.470T>G (p.Val157Gly)
17g.81934957A>GCA401538223PYCR1c.509T>C (p.Val170Ala)
c.590T>C (p.Val197Ala)
c.326T>C (p.Val109Ala)
c.419T>C (p.Val140Ala)
c.470T>C (p.Val157Ala)
17g.81934957A>TCA401538225PYCR1c.509T>A (p.Val170Asp)
c.590T>A (p.Val197Asp)
c.326T>A (p.Val109Asp)
c.419T>A (p.Val140Asp)
c.470T>A (p.Val157Asp)
17g.81934958C>ACA401538229PYCR1c.508G>T (p.Val170Phe)
c.589G>T (p.Val197Phe)
c.325G>T (p.Val109Phe)
c.418G>T (p.Val140Phe)
c.469G>T (p.Val157Phe)
17g.81934958C=CA2278749786PYCR1c.508G= (p.Val170=)
c.589G= (p.Val197=)
c.325G= (p.Val109=)
c.418G= (p.Val140=)
c.469G= (p.Val157=)
17g.81934958C>GCA401538231PYCR1c.508G>C (p.Val170Leu)
c.589G>C (p.Val197Leu)
c.325G>C (p.Val109Leu)
c.418G>C (p.Val140Leu)
c.469G>C (p.Val157Leu)
 gnomAD v4
17g.81934958C>TCA8845427PYCR1c.508G>A (p.Val170Ile)
c.589G>A (p.Val197Ile)
c.325G>A (p.Val109Ile)
c.418G>A (p.Val140Ile)
c.469G>A (p.Val157Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.81934959G>ACA8845428PYCR1c.507C>T (p.Ala169=)
c.588C>T (p.Ala196=)
c.324C>T (p.Ala108=)
c.417C>T (p.Ala139=)
c.468C>T (p.Ala156=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.81934959G>CCA502426379PYCR1c.507C>G (p.Ala169=)
c.588C>G (p.Ala196=)
c.324C>G (p.Ala108=)
c.417C>G (p.Ala139=)
c.468C>G (p.Ala156=)
17g.81934959G=CA2278749787PYCR1c.507C= (p.Ala169=)
c.588C= (p.Ala196=)
c.324C= (p.Ala108=)
c.417C= (p.Ala139=)
c.468C= (p.Ala156=)
17g.81934959G>TCA502426378PYCR1c.507C>A (p.Ala169=)
c.588C>A (p.Ala196=)
c.324C>A (p.Ala108=)
c.417C>A (p.Ala139=)
c.468C>A (p.Ala156=)
 gnomAD v4
17g.81934960G>ACA401538234PYCR1c.506C>T (p.Ala169Val)
c.587C>T (p.Ala196Val)
c.323C>T (p.Ala108Val)
c.416C>T (p.Ala139Val)
c.467C>T (p.Ala156Val)
 gnomAD v4 COSMIC COSMIC
17g.81934960G>CCA401538236PYCR1c.506C>G (p.Ala169Gly)
c.587C>G (p.Ala196Gly)
c.323C>G (p.Ala108Gly)
c.416C>G (p.Ala139Gly)
c.467C>G (p.Ala156Gly)
17g.81934960G>TCA401538237PYCR1c.506C>A (p.Ala169Asp)
c.587C>A (p.Ala196Asp)
c.323C>A (p.Ala108Asp)
c.416C>A (p.Ala139Asp)
c.467C>A (p.Ala156Asp)
 gnomAD v4
17g.81934961C>ACA401538239PYCR1c.505G>T (p.Ala169Ser)
c.586G>T (p.Ala196Ser)
c.322G>T (p.Ala108Ser)
c.415G>T (p.Ala139Ser)
c.466G>T (p.Ala156Ser)
17g.81934961C=CA2278749788PYCR1c.505G= (p.Ala169=)
c.586G= (p.Ala196=)
c.322G= (p.Ala108=)
c.415G= (p.Ala139=)
c.466G= (p.Ala156=)
17g.81934961C>GCA401538242PYCR1c.505G>C (p.Ala169Pro)
c.586G>C (p.Ala196Pro)
c.322G>C (p.Ala108Pro)
c.415G>C (p.Ala139Pro)
c.466G>C (p.Ala156Pro)
17g.81934961C>TCA401538244PYCR1c.505G>A (p.Ala169Thr)
c.586G>A (p.Ala196Thr)
c.322G>A (p.Ala108Thr)
c.415G>A (p.Ala139Thr)
c.466G>A (p.Ala156Thr)
 dbSNP gnomAD v2 gnomAD v4
17g.81934962A=CA2278749789PYCR1c.504T= (p.Asp168=)
c.585T= (p.Asp195=)
c.321T= (p.Asp107=)
c.414T= (p.Asp138=)
c.465T= (p.Asp155=)
17g.81934962A>CCA401538246PYCR1c.504T>G (p.Asp168Glu)
c.585T>G (p.Asp195Glu)
c.321T>G (p.Asp107Glu)
c.414T>G (p.Asp138Glu)
c.465T>G (p.Asp155Glu)
 dbSNP gnomAD v2 gnomAD v4
17g.81934962A>GCA502426380PYCR1c.504T>C (p.Asp168=)
c.585T>C (p.Asp195=)
c.321T>C (p.Asp107=)
c.414T>C (p.Asp138=)
c.465T>C (p.Asp155=)
 gnomAD v4
17g.81934962A>TCA401538247PYCR1c.504T>A (p.Asp168Glu)
c.585T>A (p.Asp195Glu)
c.321T>A (p.Asp107Glu)
c.414T>A (p.Asp138Glu)
c.465T>A (p.Asp155Glu)
17g.81934963T>ACA401538249PYCR1c.503A>T (p.Asp168Val)
c.584A>T (p.Asp195Val)
c.320A>T (p.Asp107Val)
c.413A>T (p.Asp138Val)
c.464A>T (p.Asp155Val)
17g.81934963T>CCA401538253PYCR1c.503A>G (p.Asp168Gly)
c.584A>G (p.Asp195Gly)
c.320A>G (p.Asp107Gly)
c.413A>G (p.Asp138Gly)
c.464A>G (p.Asp155Gly)
17g.81934963T>GCA401538251PYCR1c.503A>C (p.Asp168Ala)
c.584A>C (p.Asp195Ala)
c.320A>C (p.Asp107Ala)
c.413A>C (p.Asp138Ala)
c.464A>C (p.Asp155Ala)
17g.81934964C>ACA401538256PYCR1c.502G>T (p.Asp168Tyr)
c.583G>T (p.Asp195Tyr)
c.319G>T (p.Asp107Tyr)
c.412G>T (p.Asp138Tyr)
c.463G>T (p.Asp155Tyr)
17g.81934964C>GCA401538260PYCR1c.502G>C (p.Asp168His)
c.583G>C (p.Asp195His)
c.319G>C (p.Asp107His)
c.412G>C (p.Asp138His)
c.463G>C (p.Asp155His)
17g.81934964C>TCA401538257PYCR1c.502G>A (p.Asp168Asn)
c.583G>A (p.Asp195Asn)
c.319G>A (p.Asp107Asn)
c.412G>A (p.Asp138Asn)
c.463G>A (p.Asp155Asn)
17g.81934965A>CCA401538261PYCR1c.501T>G (p.Ile167Met)
c.582T>G (p.Ile194Met)
c.318T>G (p.Ile106Met)
c.411T>G (p.Ile137Met)
c.462T>G (p.Ile154Met)
17g.81934965A>GCA502426383PYCR1c.501T>C (p.Ile167=)
c.582T>C (p.Ile194=)
c.318T>C (p.Ile106=)
c.411T>C (p.Ile137=)
c.462T>C (p.Ile154=)
17g.81934965A>TCA502426384PYCR1c.501T>A (p.Ile167=)
c.582T>A (p.Ile194=)
c.318T>A (p.Ile106=)
c.411T>A (p.Ile137=)
c.462T>A (p.Ile154=)
17g.81934966A=CA2278749790PYCR1c.500T= (p.Ile167=)
c.581T= (p.Ile194=)
c.317T= (p.Ile106=)
c.410T= (p.Ile137=)
c.461T= (p.Ile154=)
17g.81934966A>CCA401538264PYCR1c.500T>G (p.Ile167Ser)
c.581T>G (p.Ile194Ser)
c.317T>G (p.Ile106Ser)
c.410T>G (p.Ile137Ser)
c.461T>G (p.Ile154Ser)
17g.81934966A>GCA8845429PYCR1c.500T>C (p.Ile167Thr)
c.581T>C (p.Ile194Thr)
c.317T>C (p.Ile106Thr)
c.410T>C (p.Ile137Thr)
c.461T>C (p.Ile154Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.81934966A>TCA401538267PYCR1c.500T>A (p.Ile167Asn)
c.581T>A (p.Ile194Asn)
c.317T>A (p.Ile106Asn)
c.410T>A (p.Ile137Asn)
c.461T>A (p.Ile154Asn)
17g.81934967T>ACA401538269PYCR1c.499A>T (p.Ile167Phe)
c.580A>T (p.Ile194Phe)
c.316A>T (p.Ile106Phe)
c.409A>T (p.Ile137Phe)
c.460A>T (p.Ile154Phe)
17g.81934967T>CCA401538271PYCR1c.499A>G (p.Ile167Val)
c.580A>G (p.Ile194Val)
c.316A>G (p.Ile106Val)
c.409A>G (p.Ile137Val)
c.460A>G (p.Ile154Val)
17g.81934967T>GCA401538272PYCR1c.499A>C (p.Ile167Leu)
c.580A>C (p.Ile194Leu)
c.316A>C (p.Ile106Leu)
c.409A>C (p.Ile137Leu)
c.460A>C (p.Ile154Leu)
17g.81934968C>ACA502426386PYCR1c.498G>T (p.Leu166=)
c.579G>T (p.Leu193=)
c.315G>T (p.Leu105=)
c.408G>T (p.Leu136=)
c.459G>T (p.Leu153=)
17g.81934968C>GCA502426387PYCR1c.498G>C (p.Leu166=)
c.579G>C (p.Leu193=)
c.315G>C (p.Leu105=)
c.408G>C (p.Leu136=)
c.459G>C (p.Leu153=)
17g.81934968C>TCA502426388PYCR1c.498G>A (p.Leu166=)
c.579G>A (p.Leu193=)
c.315G>A (p.Leu105=)
c.408G>A (p.Leu136=)
c.459G>A (p.Leu153=)
 COSMIC COSMIC
17g.81934969A=CA2278749791PYCR1c.497T= (p.Leu166=)
c.578T= (p.Leu193=)
c.314T= (p.Leu105=)
c.407T= (p.Leu136=)
c.458T= (p.Leu153=)
17g.81934969A>CCA401538274PYCR1c.497T>G (p.Leu166Arg)
c.578T>G (p.Leu193Arg)
c.314T>G (p.Leu105Arg)
c.407T>G (p.Leu136Arg)
c.458T>G (p.Leu153Arg)
 dbSNP gnomAD v4
17g.81934969A>GCA401538276PYCR1c.497T>C (p.Leu166Pro)
c.578T>C (p.Leu193Pro)
c.314T>C (p.Leu105Pro)
c.407T>C (p.Leu136Pro)
c.458T>C (p.Leu153Pro)
17g.81934969A>TCA401538279PYCR1c.497T>A (p.Leu166Gln)
c.578T>A (p.Leu193Gln)
c.314T>A (p.Leu105Gln)
c.407T>A (p.Leu136Gln)
c.458T>A (p.Leu153Gln)
17g.81934970G>ACA502426389PYCR1c.496C>T (p.Leu166=)
c.577C>T (p.Leu193=)
c.313C>T (p.Leu105=)
c.406C>T (p.Leu136=)
c.457C>T (p.Leu153=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.81934970G>CCA8845430PYCR1c.496C>G (p.Leu166Val)
c.577C>G (p.Leu193Val)
c.313C>G (p.Leu105Val)
c.406C>G (p.Leu136Val)
c.457C>G (p.Leu153Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.81934970G=CA2278749792PYCR1c.496C= (p.Leu166=)
c.577C= (p.Leu193=)
c.313C= (p.Leu105=)
c.406C= (p.Leu136=)
c.457C= (p.Leu153=)
17g.81934970G>TCA401538287PYCR1c.496C>A (p.Leu166Met)
c.577C>A (p.Leu193Met)
c.313C>A (p.Leu105Met)
c.406C>A (p.Leu136Met)
c.457C>A (p.Leu153Met)
17g.81934971G>ACA502426391PYCR1c.495C>T (p.Asp165=)
c.576C>T (p.Asp192=)
c.312C>T (p.Asp104=)
c.405C>T (p.Asp135=)
c.456C>T (p.Asp152=)
 gnomAD v4 COSMIC COSMIC
17g.81934971G>CCA401538291PYCR1c.495C>G (p.Asp165Glu)
c.576C>G (p.Asp192Glu)
c.312C>G (p.Asp104Glu)
c.405C>G (p.Asp135Glu)
c.456C>G (p.Asp152Glu)
17g.81934971G=CA2278749793PYCR1c.495C= (p.Asp165=)
c.576C= (p.Asp192=)
c.312C= (p.Asp104=)
c.405C= (p.Asp135=)
c.456C= (p.Asp152=)
17g.81934971G>TCA8845431PYCR1c.495C>A (p.Asp165Glu)
c.576C>A (p.Asp192Glu)
c.312C>A (p.Asp104Glu)
c.405C>A (p.Asp135Glu)
c.456C>A (p.Asp152Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.81934972T>ACA401538295PYCR1c.494A>T (p.Asp165Val)
c.575A>T (p.Asp192Val)
c.311A>T (p.Asp104Val)
c.404A>T (p.Asp135Val)
c.455A>T (p.Asp152Val)
 COSMIC COSMIC
17g.81934972T>CCA401538296PYCR1c.494A>G (p.Asp165Gly)
c.575A>G (p.Asp192Gly)
c.311A>G (p.Asp104Gly)
c.404A>G (p.Asp135Gly)
c.455A>G (p.Asp152Gly)
17g.81934972T>GCA401538298PYCR1c.494A>C (p.Asp165Ala)
c.575A>C (p.Asp192Ala)
c.311A>C (p.Asp104Ala)
c.404A>C (p.Asp135Ala)
c.455A>C (p.Asp152Ala)
17g.81934973C>ACA401538301PYCR1c.493G>T (p.Asp165Tyr)
c.574G>T (p.Asp192Tyr)
c.310G>T (p.Asp104Tyr)
c.403G>T (p.Asp135Tyr)
c.454G>T (p.Asp152Tyr)
17g.81934973C>GCA401538304PYCR1c.493G>C (p.Asp165His)
c.574G>C (p.Asp192His)
c.310G>C (p.Asp104His)
c.403G>C (p.Asp135His)
c.454G>C (p.Asp152His)
17g.81934973C>TCA401538306PYCR1c.493G>A (p.Asp165Asn)
c.574G>A (p.Asp192Asn)
c.310G>A (p.Asp104Asn)
c.403G>A (p.Asp135Asn)
c.454G>A (p.Asp152Asn)
17g.81934974C>ACA401538309PYCR1c.492G>T (p.Glu164Asp)
c.573G>T (p.Glu191Asp)
c.309G>T (p.Glu103Asp)
c.402G>T (p.Glu134Asp)
c.453G>T (p.Glu151Asp)
17g.81934974C=CA2278749794PYCR1c.492G= (p.Glu164=)
c.573G= (p.Glu191=)
c.309G= (p.Glu103=)
c.402G= (p.Glu134=)
c.453G= (p.Glu151=)
17g.81934974C>GCA295137744PYCR1c.492G>C (p.Glu164Asp)
c.573G>C (p.Glu191Asp)
c.309G>C (p.Glu103Asp)
c.402G>C (p.Glu134Asp)
c.453G>C (p.Glu151Asp)
 dbSNP
17g.81934974C>TCA502426398PYCR1c.492G>A (p.Glu164=)
c.573G>A (p.Glu191=)
c.309G>A (p.Glu103=)
c.402G>A (p.Glu134=)
c.453G>A (p.Glu151=)
17g.81934975T>ACA401538311PYCR1c.491A>T (p.Glu164Val)
c.572A>T (p.Glu191Val)
c.308A>T (p.Glu103Val)
c.401A>T (p.Glu134Val)
c.452A>T (p.Glu151Val)
17g.81934975T>CCA401538313PYCR1c.491A>G (p.Glu164Gly)
c.572A>G (p.Glu191Gly)
c.308A>G (p.Glu103Gly)
c.401A>G (p.Glu134Gly)
c.452A>G (p.Glu151Gly)
17g.81934975T>GCA401538314PYCR1c.491A>C (p.Glu164Ala)
c.572A>C (p.Glu191Ala)
c.308A>C (p.Glu103Ala)
c.401A>C (p.Glu134Ala)
c.452A>C (p.Glu151Ala)
17g.81934976C>ACA401538318PYCR1c.490G>T (p.Glu164Ter)
c.571G>T (p.Glu191Ter)
c.307G>T (p.Glu103Ter)
c.400G>T (p.Glu134Ter)
c.451G>T (p.Glu151Ter)
17g.81934976C>GCA401538316PYCR1c.490G>C (p.Glu164Gln)
c.571G>C (p.Glu191Gln)
c.307G>C (p.Glu103Gln)
c.400G>C (p.Glu134Gln)
c.451G>C (p.Glu151Gln)
17g.81934976C>TCA401538315PYCR1c.490G>A (p.Glu164Lys)
c.571G>A (p.Glu191Lys)
c.307G>A (p.Glu103Lys)
c.400G>A (p.Glu134Lys)
c.451G>A (p.Glu151Lys)
17g.81934977T>ACA401538320PYCR1c.489A>T (p.Glu163Asp)
c.570A>T (p.Glu190Asp)
c.306A>T (p.Glu102Asp)
c.399A>T (p.Glu133Asp)
c.450A>T (p.Glu150Asp)
17g.81934977T>CCA502426401PYCR1c.489A>G (p.Glu163=)
c.570A>G (p.Glu190=)
c.306A>G (p.Glu102=)
c.399A>G (p.Glu133=)
c.450A>G (p.Glu150=)
 dbSNP gnomAD v2 gnomAD v4
17g.81934977T>GCA401538322PYCR1c.489A>C (p.Glu163Asp)
c.570A>C (p.Glu190Asp)
c.306A>C (p.Glu102Asp)
c.399A>C (p.Glu133Asp)
c.450A>C (p.Glu150Asp)
17g.81934977T=CA2278749795PYCR1c.489A= (p.Glu163=)
c.570A= (p.Glu190=)
c.306A= (p.Glu102=)
c.399A= (p.Glu133=)
c.450A= (p.Glu150=)
17g.81934978T>ACA401538323PYCR1c.488A>T (p.Glu163Val)
c.569A>T (p.Glu190Val)
c.305A>T (p.Glu102Val)
c.398A>T (p.Glu133Val)
c.449A>T (p.Glu150Val)
17g.81934978T>CCA401538324PYCR1c.488A>G (p.Glu163Gly)
c.569A>G (p.Glu190Gly)
c.305A>G (p.Glu102Gly)
c.398A>G (p.Glu133Gly)
c.449A>G (p.Glu150Gly)
17g.81934978T>GCA401538326PYCR1c.488A>C (p.Glu163Ala)
c.569A>C (p.Glu190Ala)
c.305A>C (p.Glu102Ala)
c.398A>C (p.Glu133Ala)
c.449A>C (p.Glu150Ala)
17g.81934979C>ACA401538327PYCR1c.487G>T (p.Glu163Ter)
c.568G>T (p.Glu190Ter)
c.304G>T (p.Glu102Ter)
c.397G>T (p.Glu133Ter)
c.448G>T (p.Glu150Ter)
17g.81934979C>GCA401538330PYCR1c.487G>C (p.Glu163Gln)
c.568G>C (p.Glu190Gln)
c.304G>C (p.Glu102Gln)
c.397G>C (p.Glu133Gln)
c.448G>C (p.Glu150Gln)
17g.81934979C>TCA401538332PYCR1c.487G>A (p.Glu163Lys)
c.568G>A (p.Glu190Lys)
c.304G>A (p.Glu102Lys)
c.397G>A (p.Glu133Lys)
c.448G>A (p.Glu150Lys)
17g.81934980C>ACA502426407PYCR1c.486G>T (p.Val162=)
c.567G>T (p.Val189=)
c.303G>T (p.Val101=)
c.396G>T (p.Val132=)
c.447G>T (p.Val149=)
17g.81934980C=CA2278749796PYCR1c.486G= (p.Val162=)
c.567G= (p.Val189=)
c.303G= (p.Val101=)
c.396G= (p.Val132=)
c.447G= (p.Val149=)
17g.81934980C>GCA502426406PYCR1c.486G>C (p.Val162=)
c.567G>C (p.Val189=)
c.303G>C (p.Val101=)
c.396G>C (p.Val132=)
c.447G>C (p.Val149=)
17g.81934980C>TCA8845432PYCR1c.486G>A (p.Val162=)
c.567G>A (p.Val189=)
c.303G>A (p.Val101=)
c.396G>A (p.Val132=)
c.447G>A (p.Val149=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.81934981A>CCA401538337PYCR1c.485T>G (p.Val162Gly)
c.566T>G (p.Val189Gly)
c.302T>G (p.Val101Gly)
c.395T>G (p.Val132Gly)
c.446T>G (p.Val149Gly)
17g.81934981A>GCA401538339PYCR1c.485T>C (p.Val162Ala)
c.566T>C (p.Val189Ala)
c.302T>C (p.Val101Ala)
c.395T>C (p.Val132Ala)
c.446T>C (p.Val149Ala)
17g.81934981A>TCA401538340PYCR1c.485T>A (p.Val162Glu)
c.566T>A (p.Val189Glu)
c.302T>A (p.Val101Glu)
c.395T>A (p.Val132Glu)
c.446T>A (p.Val149Glu)
17g.81934982C>ACA401538345PYCR1c.484G>T (p.Val162Leu)
c.565G>T (p.Val189Leu)
c.301G>T (p.Val101Leu)
c.394G>T (p.Val132Leu)
c.445G>T (p.Val149Leu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.81934982C=CA2278749797PYCR1c.484G= (p.Val162=)
c.565G= (p.Val189=)
c.301G= (p.Val101=)
c.394G= (p.Val132=)
c.445G= (p.Val149=)
17g.81934982C>GCA401538344PYCR1c.484G>C (p.Val162Leu)
c.565G>C (p.Val189Leu)
c.301G>C (p.Val101Leu)
c.394G>C (p.Val132Leu)
c.445G>C (p.Val149Leu)
17g.81934982C>TCA295137745PYCR1c.484G>A (p.Val162Met)
c.565G>A (p.Val189Met)
c.301G>A (p.Val101Met)
c.394G>A (p.Val132Met)
c.445G>A (p.Val149Met)
 dbSNP gnomAD v4
17g.81934983C>ACA401538347PYCR1c.483G>T (p.Glu161Asp)
c.564G>T (p.Glu188Asp)
c.300G>T (p.Glu100Asp)
c.393G>T (p.Glu131Asp)
c.444G>T (p.Glu148Asp)
17g.81934983C=CA2278749798PYCR1c.483G= (p.Glu161=)
c.564G= (p.Glu188=)
c.300G= (p.Glu100=)
c.393G= (p.Glu131=)
c.444G= (p.Glu148=)
17g.81934983C>GCA8845433PYCR1c.483G>C (p.Glu161Asp)
c.564G>C (p.Glu188Asp)
c.300G>C (p.Glu100Asp)
c.393G>C (p.Glu131Asp)
c.444G>C (p.Glu148Asp)
 dbSNP ExAC gnomAD v2
17g.81934983C>TCA502426409PYCR1c.483G>A (p.Glu161=)
c.564G>A (p.Glu188=)
c.300G>A (p.Glu100=)
c.393G>A (p.Glu131=)
c.444G>A (p.Glu148=)
 dbSNP gnomAD v2 gnomAD v4
17g.81934984T>ACA401538352PYCR1c.482A>T (p.Glu161Val)
c.563A>T (p.Glu188Val)
c.299A>T (p.Glu100Val)
c.392A>T (p.Glu131Val)
c.443A>T (p.Glu148Val)
17g.81934984T>CCA401538354PYCR1c.482A>G (p.Glu161Gly)
c.563A>G (p.Glu188Gly)
c.299A>G (p.Glu100Gly)
c.392A>G (p.Glu131Gly)
c.443A>G (p.Glu148Gly)
 gnomAD v4
17g.81934984T>GCA401538361PYCR1c.482A>C (p.Glu161Ala)
c.563A>C (p.Glu188Ala)
c.299A>C (p.Glu100Ala)
c.392A>C (p.Glu131Ala)
c.443A>C (p.Glu148Ala)
17g.81934985C>ACA401538364PYCR1c.481G>T (p.Glu161Ter)
c.562G>T (p.Glu188Ter)
c.298G>T (p.Glu100Ter)
c.391G>T (p.Glu131Ter)
c.442G>T (p.Glu148Ter)
 gnomAD v4
17g.81934985C>GCA401538365PYCR1c.481G>C (p.Glu161Gln)
c.562G>C (p.Glu188Gln)
c.298G>C (p.Glu100Gln)
c.391G>C (p.Glu131Gln)
c.442G>C (p.Glu148Gln)
17g.81934985C>TCA401538369PYCR1c.481G>A (p.Glu161Lys)
c.562G>A (p.Glu188Lys)
c.298G>A (p.Glu100Lys)
c.391G>A (p.Glu131Lys)
c.442G>A (p.Glu148Lys)
17g.81934986C>ACA502426413PYCR1c.480G>T (p.Thr160=)
c.561G>T (p.Thr187=)
c.297G>T (p.Thr99=)
c.390G>T (p.Thr130=)
c.441G>T (p.Thr147=)
17g.81934986C=CA2278749799PYCR1c.480G= (p.Thr160=)
c.561G= (p.Thr187=)
c.297G= (p.Thr99=)
c.390G= (p.Thr130=)
c.441G= (p.Thr147=)
17g.81934986C>GCA502426414PYCR1c.480G>C (p.Thr160=)
c.561G>C (p.Thr187=)
c.297G>C (p.Thr99=)
c.390G>C (p.Thr130=)
c.441G>C (p.Thr147=)
 ClinVar gnomAD v4
17g.81934986C>TCA8845434PYCR1c.480G>A (p.Thr160=)
c.561G>A (p.Thr187=)
c.297G>A (p.Thr99=)
c.390G>A (p.Thr130=)
c.441G>A (p.Thr147=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.81934987G>ACA8845435PYCR1c.479C>T (p.Thr160Met)
c.560C>T (p.Thr187Met)
c.296C>T (p.Thr99Met)
c.389C>T (p.Thr130Met)
c.440C>T (p.Thr147Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.81934987G>CCA401538377PYCR1c.479C>G (p.Thr160Arg)
c.560C>G (p.Thr187Arg)
c.296C>G (p.Thr99Arg)
c.389C>G (p.Thr130Arg)
c.440C>G (p.Thr147Arg)
 gnomAD v4
17g.81934987G=CA2278749800PYCR1c.479C= (p.Thr160=)
c.560C= (p.Thr187=)
c.296C= (p.Thr99=)
c.389C= (p.Thr130=)
c.440C= (p.Thr147=)
17g.81934987G>TCA401538381PYCR1c.479C>A (p.Thr160Lys)
c.560C>A (p.Thr187Lys)
c.296C>A (p.Thr99Lys)
c.389C>A (p.Thr130Lys)
c.440C>A (p.Thr147Lys)
 gnomAD v4
17g.81934988T>ACA401538391PYCR1c.478A>T (p.Thr160Ser)
c.559A>T (p.Thr187Ser)
c.295A>T (p.Thr99Ser)
c.388A>T (p.Thr130Ser)
c.439A>T (p.Thr147Ser)
17g.81934988T>CCA8845436PYCR1c.478A>G (p.Thr160Ala)
c.559A>G (p.Thr187Ala)
c.295A>G (p.Thr99Ala)
c.388A>G (p.Thr130Ala)
c.439A>G (p.Thr147Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.81934988T>GCA401538386PYCR1c.478A>C (p.Thr160Pro)
c.559A>C (p.Thr187Pro)
c.295A>C (p.Thr99Pro)
c.388A>C (p.Thr130Pro)
c.439A>C (p.Thr147Pro)
17g.81934988T=CA2278749801PYCR1c.478A= (p.Thr160=)
c.559A= (p.Thr187=)
c.295A= (p.Thr99=)
c.388A= (p.Thr130=)
c.439A= (p.Thr147=)
17g.81934989G>ACA502426418PYCR1c.477C>T (p.Cys159=)
c.558C>T (p.Cys186=)
c.294C>T (p.Cys98=)
c.387C>T (p.Cys129=)
c.438C>T (p.Cys146=)
17g.81934989G>CCA401538395PYCR1c.477C>G (p.Cys159Trp)
c.558C>G (p.Cys186Trp)
c.294C>G (p.Cys98Trp)
c.387C>G (p.Cys129Trp)
c.438C>G (p.Cys146Trp)
17g.81934989G=CA2278749802PYCR1c.477C= (p.Cys159=)
c.558C= (p.Cys186=)
c.294C= (p.Cys98=)
c.387C= (p.Cys129=)
c.438C= (p.Cys146=)
17g.81934989G>TCA401538397PYCR1c.477C>A (p.Cys159Ter)
c.558C>A (p.Cys186Ter)
c.294C>A (p.Cys98Ter)
c.387C>A (p.Cys129Ter)
c.438C>A (p.Cys146Ter)
 dbSNP gnomAD v2 gnomAD v4
17g.81934990C>ACA401538409PYCR1c.476G>T (p.Cys159Phe)
c.557G>T (p.Cys186Phe)
c.293G>T (p.Cys98Phe)
c.386G>T (p.Cys129Phe)
c.437G>T (p.Cys146Phe)
17g.81934990C>GCA401538411PYCR1c.476G>C (p.Cys159Ser)
c.557G>C (p.Cys186Ser)
c.293G>C (p.Cys98Ser)
c.386G>C (p.Cys129Ser)
c.437G>C (p.Cys146Ser)
17g.81934990C>TCA401538417PYCR1c.476G>A (p.Cys159Tyr)
c.557G>A (p.Cys186Tyr)
c.293G>A (p.Cys98Tyr)
c.386G>A (p.Cys129Tyr)
c.437G>A (p.Cys146Tyr)
17g.81934991A>CCA401538420PYCR1c.475T>G (p.Cys159Gly)
c.556T>G (p.Cys186Gly)
c.292T>G (p.Cys98Gly)
c.385T>G (p.Cys129Gly)
c.436T>G (p.Cys146Gly)
17g.81934991A>GCA401538422PYCR1c.475T>C (p.Cys159Arg)
c.556T>C (p.Cys186Arg)
c.292T>C (p.Cys98Arg)
c.385T>C (p.Cys129Arg)
c.436T>C (p.Cys146Arg)
17g.81934991A>TCA401538424PYCR1c.475T>A (p.Cys159Ser)
c.556T>A (p.Cys186Ser)
c.292T>A (p.Cys98Ser)
c.385T>A (p.Cys129Ser)
c.436T>A (p.Cys146Ser)
17g.81934992G>ACA502426427PYCR1c.474C>T (p.Phe158=)
c.555C>T (p.Phe185=)
c.291C>T (p.Phe97=)
c.384C>T (p.Phe128=)
c.435C>T (p.Phe145=)
17g.81934992G>CCA401538432PYCR1c.474C>G (p.Phe158Leu)
c.555C>G (p.Phe185Leu)
c.291C>G (p.Phe97Leu)
c.384C>G (p.Phe128Leu)
c.435C>G (p.Phe145Leu)
17g.81934992G>TCA401538428PYCR1c.474C>A (p.Phe158Leu)
c.555C>A (p.Phe185Leu)
c.291C>A (p.Phe97Leu)
c.384C>A (p.Phe128Leu)
c.435C>A (p.Phe145Leu)
 gnomAD v4
17g.81934993A>CCA401538435PYCR1c.473T>G (p.Phe158Cys)
c.554T>G (p.Phe185Cys)
c.290T>G (p.Phe97Cys)
c.383T>G (p.Phe128Cys)
c.434T>G (p.Phe145Cys)
17g.81934993A>GCA401538438PYCR1c.473T>C (p.Phe158Ser)
c.554T>C (p.Phe185Ser)
c.290T>C (p.Phe97Ser)
c.383T>C (p.Phe128Ser)
c.434T>C (p.Phe145Ser)
17g.81934993A>TCA401538441PYCR1c.473T>A (p.Phe158Tyr)
c.554T>A (p.Phe185Tyr)
c.290T>A (p.Phe97Tyr)
c.383T>A (p.Phe128Tyr)
c.434T>A (p.Phe145Tyr)
17g.81934994A>CCA401538445PYCR1c.472T>G (p.Phe158Val)
c.553T>G (p.Phe185Val)
c.289T>G (p.Phe97Val)
c.382T>G (p.Phe128Val)
c.433T>G (p.Phe145Val)
17g.81934994A>GCA401538447PYCR1c.472T>C (p.Phe158Leu)
c.553T>C (p.Phe185Leu)
c.289T>C (p.Phe97Leu)
c.382T>C (p.Phe128Leu)
c.433T>C (p.Phe145Leu)
17g.81934994A>TCA401538450PYCR1c.472T>A (p.Phe158Ile)
c.553T>A (p.Phe185Ile)
c.289T>A (p.Phe97Ile)
c.382T>A (p.Phe128Ile)
c.433T>A (p.Phe145Ile)
17g.81934995G>ACA502426429PYCR1c.471C>T (p.Gly157=)
c.552C>T (p.Gly184=)
c.288C>T (p.Gly96=)
c.381C>T (p.Gly127=)
c.432C>T (p.Gly144=)
 gnomAD v4
17g.81934995G>CCA502426430PYCR1c.471C>G (p.Gly157=)
c.552C>G (p.Gly184=)
c.288C>G (p.Gly96=)
c.381C>G (p.Gly127=)
c.432C>G (p.Gly144=)
17g.81934995G>TCA502426431PYCR1c.471C>A (p.Gly157=)
c.552C>A (p.Gly184=)
c.288C>A (p.Gly96=)
c.381C>A (p.Gly127=)
c.432C>A (p.Gly144=)
 gnomAD v4
17g.81934996C>ACA401538459PYCR1c.470G>T (p.Gly157Val)
c.551G>T (p.Gly184Val)
c.287G>T (p.Gly96Val)
c.380G>T (p.Gly127Val)
c.431G>T (p.Gly144Val)
 gnomAD v4
17g.81934996C>GCA401538451PYCR1c.470G>C (p.Gly157Ala)
c.551G>C (p.Gly184Ala)
c.287G>C (p.Gly96Ala)
c.380G>C (p.Gly127Ala)
c.431G>C (p.Gly144Ala)
17g.81934996C>TCA401538455PYCR1c.470G>A (p.Gly157Asp)
c.551G>A (p.Gly184Asp)
c.287G>A (p.Gly96Asp)
c.380G>A (p.Gly127Asp)
c.431G>A (p.Gly144Asp)
17g.81934997C>ACA401538462PYCR1c.469G>T (p.Gly157Cys)
c.550G>T (p.Gly184Cys)
c.286G>T (p.Gly96Cys)
c.379G>T (p.Gly127Cys)
c.430G>T (p.Gly144Cys)
17g.81934997C>GCA401538463PYCR1c.469G>C (p.Gly157Arg)
c.550G>C (p.Gly184Arg)
c.286G>C (p.Gly96Arg)
c.379G>C (p.Gly127Arg)
c.430G>C (p.Gly144Arg)
17g.81934997C>TCA401538465PYCR1c.469G>A (p.Gly157Ser)
c.550G>A (p.Gly184Ser)
c.286G>A (p.Gly96Ser)
c.379G>A (p.Gly127Ser)
c.430G>A (p.Gly144Ser)
17g.81934998C>ACA502426436PYCR1c.468G>T (p.Val156=)
c.549G>T (p.Val183=)
c.285G>T (p.Val95=)
c.378G>T (p.Val126=)
c.429G>T (p.Val143=)
 gnomAD v4
17g.81934998C>GCA502426437PYCR1c.468G>C (p.Val156=)
c.549G>C (p.Val183=)
c.285G>C (p.Val95=)
c.378G>C (p.Val126=)
c.429G>C (p.Val143=)
17g.81934998C>TCA502426439PYCR1c.468G>A (p.Val156=)
c.549G>A (p.Val183=)
c.285G>A (p.Val95=)
c.378G>A (p.Val126=)
c.429G>A (p.Val143=)
 gnomAD v4
17g.81934999A=CA2278749803PYCR1c.467T= (p.Val156=)
c.548T= (p.Val183=)
c.284T= (p.Val95=)
c.377T= (p.Val126=)
c.428T= (p.Val143=)
17g.81934999A>CCA401538471PYCR1c.467T>G (p.Val156Gly)
c.548T>G (p.Val183Gly)
c.284T>G (p.Val95Gly)
c.377T>G (p.Val126Gly)
c.428T>G (p.Val143Gly)
17g.81934999A>GCA401538473PYCR1c.467T>C (p.Val156Ala)
c.548T>C (p.Val183Ala)
c.284T>C (p.Val95Ala)
c.377T>C (p.Val126Ala)
c.428T>C (p.Val143Ala)
 dbSNP
17g.81934999A>TCA401538475PYCR1c.467T>A (p.Val156Glu)
c.548T>A (p.Val183Glu)
c.284T>A (p.Val95Glu)
c.377T>A (p.Val126Glu)
c.428T>A (p.Val143Glu)
17g.81935000C>ACA401538480PYCR1c.466G>T (p.Val156Leu)
c.547G>T (p.Val183Leu)
c.283G>T (p.Val95Leu)
c.376G>T (p.Val126Leu)
c.427G>T (p.Val143Leu)
 dbSNP gnomAD v3 gnomAD v4
17g.81935000C=CA2278749804PYCR1c.466G= (p.Val156=)
c.547G= (p.Val183=)
c.283G= (p.Val95=)
c.376G= (p.Val126=)
c.427G= (p.Val143=)
17g.81935000C>GCA401538483PYCR1c.466G>C (p.Val156Leu)
c.547G>C (p.Val183Leu)
c.283G>C (p.Val95Leu)
c.376G>C (p.Val126Leu)
c.427G>C (p.Val143Leu)
17g.81935000C>TCA8845437PYCR1c.466G>A (p.Val156Met)
c.547G>A (p.Val183Met)
c.283G>A (p.Val95Met)
c.376G>A (p.Val126Met)
c.427G>A (p.Val143Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.81935000_81935014delCA2576428654PYCR1c.452_466del (p.Gln151_Val156delinsLeu)
c.533_547del (p.Gln178_Val183delinsLeu)
c.269_283del (p.Gln90_Val95delinsLeu)
c.362_376del (p.Gln121_Val126delinsLeu)
c.413_427del (p.Gln138_Val143delinsLeu)
17g.81935001G>ACA8845438PYCR1c.465C>T (p.Ser155=)
c.546C>T (p.Ser182=)
c.282C>T (p.Ser94=)
c.375C>T (p.Ser125=)
c.426C>T (p.Ser142=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.81935001G>CCA8845439PYCR1c.465C>G (p.Ser155Arg)
c.546C>G (p.Ser182Arg)
c.282C>G (p.Ser94Arg)
c.375C>G (p.Ser125Arg)
c.426C>G (p.Ser142Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.81935001G=CA2278749805PYCR1c.465C= (p.Ser155=)
c.546C= (p.Ser182=)
c.282C= (p.Ser94=)
c.375C= (p.Ser125=)
c.426C= (p.Ser142=)
17g.81935001G>TCA401538490PYCR1c.465C>A (p.Ser155Arg)
c.546C>A (p.Ser182Arg)
c.282C>A (p.Ser94Arg)
c.375C>A (p.Ser125Arg)
c.426C>A (p.Ser142Arg)
 gnomAD v4
17g.81935002C>ACA401538492PYCR1c.464G>T (p.Ser155Ile)
c.545G>T (p.Ser182Ile)
c.281G>T (p.Ser94Ile)
c.374G>T (p.Ser125Ile)
c.425G>T (p.Ser142Ile)
17g.81935002C>GCA401538497PYCR1c.464G>C (p.Ser155Thr)
c.545G>C (p.Ser182Thr)
c.281G>C (p.Ser94Thr)
c.374G>C (p.Ser125Thr)
c.425G>C (p.Ser142Thr)
17g.81935002C>TCA401538495PYCR1c.464G>A (p.Ser155Asn)
c.545G>A (p.Ser182Asn)
c.281G>A (p.Ser94Asn)
c.374G>A (p.Ser125Asn)
c.425G>A (p.Ser142Asn)
17g.81935003T>ACA401538502PYCR1c.463A>T (p.Ser155Cys)
c.544A>T (p.Ser182Cys)
c.280A>T (p.Ser94Cys)
c.373A>T (p.Ser125Cys)
c.424A>T (p.Ser142Cys)
17g.81935003T>CCA401538504PYCR1c.463A>G (p.Ser155Gly)
c.544A>G (p.Ser182Gly)
c.280A>G (p.Ser94Gly)
c.373A>G (p.Ser125Gly)
c.424A>G (p.Ser142Gly)
17g.81935003T>GCA401538507PYCR1c.463A>C (p.Ser155Arg)
c.544A>C (p.Ser182Arg)
c.280A>C (p.Ser94Arg)
c.373A>C (p.Ser125Arg)
c.424A>C (p.Ser142Arg)
17g.81935004G>ACA502426445PYCR1c.462C>T (p.Ser154=)
c.543C>T (p.Ser181=)
c.279C>T (p.Ser93=)
c.372C>T (p.Ser124=)
c.423C>T (p.Ser141=)
 dbSNP gnomAD v4
17g.81935004G>CCA401538510PYCR1c.462C>G (p.Ser154Arg)
c.543C>G (p.Ser181Arg)
c.279C>G (p.Ser93Arg)
c.372C>G (p.Ser124Arg)
c.423C>G (p.Ser141Arg)
17g.81935004G=CA2278749806PYCR1c.462C= (p.Ser154=)
c.543C= (p.Ser181=)
c.279C= (p.Ser93=)
c.372C= (p.Ser124=)
c.423C= (p.Ser141=)
17g.81935004G>TCA401538514PYCR1c.462C>A (p.Ser154Arg)
c.543C>A (p.Ser181Arg)
c.279C>A (p.Ser93Arg)
c.372C>A (p.Ser124Arg)
c.423C>A (p.Ser141Arg)
17g.81935005C>ACA401538518PYCR1c.461G>T (p.Ser154Ile)
c.542G>T (p.Ser181Ile)
c.278G>T (p.Ser93Ile)
c.371G>T (p.Ser124Ile)
c.422G>T (p.Ser141Ile)
17g.81935005C>GCA401538520PYCR1c.461G>C (p.Ser154Thr)
c.542G>C (p.Ser181Thr)
c.278G>C (p.Ser93Thr)
c.371G>C (p.Ser124Thr)
c.422G>C (p.Ser141Thr)
17g.81935005C>TCA401538523PYCR1c.461G>A (p.Ser154Asn)
c.542G>A (p.Ser181Asn)
c.278G>A (p.Ser93Asn)
c.371G>A (p.Ser124Asn)
c.422G>A (p.Ser141Asn)
17g.81935006T>ACA401538529PYCR1c.460A>T (p.Ser154Cys)
c.541A>T (p.Ser181Cys)
c.277A>T (p.Ser93Cys)
c.370A>T (p.Ser124Cys)
c.421A>T (p.Ser141Cys)
17g.81935006T>CCA401538530PYCR1c.460A>G (p.Ser154Gly)
c.541A>G (p.Ser181Gly)
c.277A>G (p.Ser93Gly)
c.370A>G (p.Ser124Gly)
c.421A>G (p.Ser141Gly)
17g.81935006T>GCA401538533PYCR1c.460A>C (p.Ser154Arg)
c.541A>C (p.Ser181Arg)
c.277A>C (p.Ser93Arg)
c.370A>C (p.Ser124Arg)
c.421A>C (p.Ser141Arg)
17g.81935007C>ACA502426453PYCR1c.459G>T (p.Leu153=)
c.540G>T (p.Leu180=)
c.276G>T (p.Leu92=)
c.369G>T (p.Leu123=)
c.420G>T (p.Leu140=)
17g.81935007C>GCA502426454PYCR1c.459G>C (p.Leu153=)
c.540G>C (p.Leu180=)
c.276G>C (p.Leu92=)
c.369G>C (p.Leu123=)
c.420G>C (p.Leu140=)
17g.81935007C>TCA502426456PYCR1c.459G>A (p.Leu153=)
c.540G>A (p.Leu180=)
c.276G>A (p.Leu92=)
c.369G>A (p.Leu123=)
c.420G>A (p.Leu140=)
17g.81935008A=CA2278749807PYCR1c.458T= (p.Leu153=)
c.539T= (p.Leu180=)
c.275T= (p.Leu92=)
c.368T= (p.Leu123=)
c.419T= (p.Leu140=)
17g.81935008A>CCA295137762PYCR1c.458T>G (p.Leu153Arg)
c.539T>G (p.Leu180Arg)
c.275T>G (p.Leu92Arg)
c.368T>G (p.Leu123Arg)
c.419T>G (p.Leu140Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.81935008A>GCA401538541PYCR1c.458T>C (p.Leu153Pro)
c.539T>C (p.Leu180Pro)
c.275T>C (p.Leu92Pro)
c.368T>C (p.Leu123Pro)
c.419T>C (p.Leu140Pro)
 gnomAD v4
17g.81935008A>TCA401538539PYCR1c.458T>A (p.Leu153Gln)
c.539T>A (p.Leu180Gln)
c.275T>A (p.Leu92Gln)
c.368T>A (p.Leu123Gln)
c.419T>A (p.Leu140Gln)
17g.81935009G>ACA502426459PYCR1c.457C>T (p.Leu153=)
c.538C>T (p.Leu180=)
c.274C>T (p.Leu92=)
c.367C>T (p.Leu123=)
c.418C>T (p.Leu140=)
17g.81935009G>CCA401538546PYCR1c.457C>G (p.Leu153Val)
c.538C>G (p.Leu180Val)
c.274C>G (p.Leu92Val)
c.367C>G (p.Leu123Val)
c.418C>G (p.Leu140Val)
17g.81935009G>TCA401538547PYCR1c.457C>A (p.Leu153Met)
c.538C>A (p.Leu180Met)
c.274C>A (p.Leu92Met)
c.367C>A (p.Leu123Met)
c.418C>A (p.Leu140Met)
 gnomAD v4
17g.81935010C>ACA502426463PYCR1c.456G>T (p.Leu152=)
c.537G>T (p.Leu179=)
c.273G>T (p.Leu91=)
c.366G>T (p.Leu122=)
c.417G>T (p.Leu139=)
 gnomAD v4
17g.81935010C>GCA502426464PYCR1c.456G>C (p.Leu152=)
c.537G>C (p.Leu179=)
c.273G>C (p.Leu91=)
c.366G>C (p.Leu122=)
c.417G>C (p.Leu139=)
17g.81935010C>TCA502426465PYCR1c.456G>A (p.Leu152=)
c.537G>A (p.Leu179=)
c.273G>A (p.Leu91=)
c.366G>A (p.Leu122=)
c.417G>A (p.Leu139=)
 gnomAD v4
17g.81935011A=CA2278749808PYCR1c.455T= (p.Leu152=)
c.536T= (p.Leu179=)
c.272T= (p.Leu91=)
c.365T= (p.Leu122=)
c.416T= (p.Leu139=)
17g.81935011A>CCA401538550PYCR1c.455T>G (p.Leu152Arg)
c.536T>G (p.Leu179Arg)
c.272T>G (p.Leu91Arg)
c.365T>G (p.Leu122Arg)
c.416T>G (p.Leu139Arg)
17g.81935011A>GCA8845440PYCR1c.455T>C (p.Leu152Pro)
c.536T>C (p.Leu179Pro)
c.272T>C (p.Leu91Pro)
c.365T>C (p.Leu122Pro)
c.416T>C (p.Leu139Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
17g.81935011A>TCA401538555PYCR1c.455T>A (p.Leu152Gln)
c.536T>A (p.Leu179Gln)
c.272T>A (p.Leu91Gln)
c.365T>A (p.Leu122Gln)
c.416T>A (p.Leu139Gln)
17g.81935012G>ACA502426467PYCR1c.454C>T (p.Leu152=)
c.535C>T (p.Leu179=)
c.271C>T (p.Leu91=)
c.364C>T (p.Leu122=)
c.415C>T (p.Leu139=)
17g.81935012G>CCA401538559PYCR1c.454C>G (p.Leu152Val)
c.535C>G (p.Leu179Val)
c.271C>G (p.Leu91Val)
c.364C>G (p.Leu122Val)
c.415C>G (p.Leu139Val)
17g.81935012G>TCA401538562PYCR1c.454C>A (p.Leu152Met)
c.535C>A (p.Leu179Met)
c.271C>A (p.Leu91Met)
c.364C>A (p.Leu122Met)
c.415C>A (p.Leu139Met)
17g.81935013C>ACA401538564PYCR1c.453G>T (p.Gln151His)
c.534G>T (p.Gln178His)
c.270G>T (p.Gln90His)
c.363G>T (p.Gln121His)
c.414G>T (p.Gln138His)
 gnomAD v4
17g.81935013C>GCA401538568PYCR1c.453G>C (p.Gln151His)
c.534G>C (p.Gln178His)
c.270G>C (p.Gln90His)
c.363G>C (p.Gln121His)
c.414G>C (p.Gln138His)
 gnomAD v4
17g.81935013C>TCA502426471PYCR1c.453G>A (p.Gln151=)
c.534G>A (p.Gln178=)
c.270G>A (p.Gln90=)
c.363G>A (p.Gln121=)
c.414G>A (p.Gln138=)
17g.81935014T>ACA401538569PYCR1c.452A>T (p.Gln151Leu)
c.533A>T (p.Gln178Leu)
c.269A>T (p.Gln90Leu)
c.362A>T (p.Gln121Leu)
c.413A>T (p.Gln138Leu)
17g.81935014T>CCA401538572PYCR1c.452A>G (p.Gln151Arg)
c.533A>G (p.Gln178Arg)
c.269A>G (p.Gln90Arg)
c.362A>G (p.Gln121Arg)
c.413A>G (p.Gln138Arg)
17g.81935014T>GCA401538576PYCR1c.452A>C (p.Gln151Pro)
c.533A>C (p.Gln178Pro)
c.269A>C (p.Gln90Pro)
c.362A>C (p.Gln121Pro)
c.413A>C (p.Gln138Pro)
17g.81935015G>ACA401538580PYCR1c.451C>T (p.Gln151Ter)
c.532C>T (p.Gln178Ter)
c.268C>T (p.Gln90Ter)
c.361C>T (p.Gln121Ter)
c.412C>T (p.Gln138Ter)
 gnomAD v4
17g.81935015G>CCA401538582PYCR1c.451C>G (p.Gln151Glu)
c.532C>G (p.Gln178Glu)
c.268C>G (p.Gln90Glu)
c.361C>G (p.Gln121Glu)
c.412C>G (p.Gln138Glu)
17g.81935015G>TCA401538578PYCR1c.451C>A (p.Gln151Lys)
c.532C>A (p.Gln178Lys)
c.268C>A (p.Gln90Lys)
c.361C>A (p.Gln121Lys)
c.412C>A (p.Gln138Lys)
 gnomAD v4
17g.81935016C>ACA401538587PYCR1c.450G>T (p.Glu150Asp)
c.531G>T (p.Glu177Asp)
c.267G>T (p.Glu89Asp)
c.360G>T (p.Glu120Asp)
c.411G>T (p.Glu137Asp)
17g.81935016C=CA2278749809PYCR1c.450G= (p.Glu150=)
c.531G= (p.Glu177=)
c.267G= (p.Glu89=)
c.360G= (p.Glu120=)
c.411G= (p.Glu137=)
17g.81935016C>GCA401538584PYCR1c.450G>C (p.Glu150Asp)
c.531G>C (p.Glu177Asp)
c.267G>C (p.Glu89Asp)
c.360G>C (p.Glu120Asp)
c.411G>C (p.Glu137Asp)
17g.81935016C>TCA502426473PYCR1c.450G>A (p.Glu150=)
c.531G>A (p.Glu177=)
c.267G>A (p.Glu89=)
c.360G>A (p.Glu120=)
c.411G>A (p.Glu137=)
 dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched