Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.20348472T>ACA394984177UMODc.829A>T (p.Thr277Ser)
c.928A>T (p.Thr310Ser)
c.976A>T (p.Thr326Ser)
c.913A>T (p.Thr305Ser)
n.1054A>T
16g.20348472T>CCA394984178UMODc.829A>G (p.Thr277Ala)
c.928A>G (p.Thr310Ala)
c.976A>G (p.Thr326Ala)
c.913A>G (p.Thr305Ala)
n.1054A>G
16g.20348472T>GCA394984180UMODc.829A>C (p.Thr277Pro)
c.928A>C (p.Thr310Pro)
c.976A>C (p.Thr326Pro)
c.913A>C (p.Thr305Pro)
n.1054A>C
16g.20348473C>ACA494097011UMODc.828G>T (p.Leu276=)
c.927G>T (p.Leu309=)
c.975G>T (p.Leu325=)
c.912G>T (p.Leu304=)
n.1053G>T
16g.20348473C>GCA494097012UMODc.828G>C (p.Leu276=)
c.927G>C (p.Leu309=)
c.975G>C (p.Leu325=)
c.912G>C (p.Leu304=)
n.1053G>C
16g.20348473C>TCA494097013UMODc.828G>A (p.Leu276=)
c.927G>A (p.Leu309=)
c.975G>A (p.Leu325=)
c.912G>A (p.Leu304=)
n.1053G>A
 gnomAD v4
16g.20348474A>CCA394984183UMODc.827T>G (p.Leu276Arg)
c.926T>G (p.Leu309Arg)
c.974T>G (p.Leu325Arg)
c.911T>G (p.Leu304Arg)
n.1052T>G
16g.20348474A>GCA394984184UMODc.827T>C (p.Leu276Pro)
c.926T>C (p.Leu309Pro)
c.974T>C (p.Leu325Pro)
c.911T>C (p.Leu304Pro)
n.1052T>C
16g.20348474A>TCA394984187UMODc.827T>A (p.Leu276Gln)
c.926T>A (p.Leu309Gln)
c.974T>A (p.Leu325Gln)
c.911T>A (p.Leu304Gln)
n.1052T>A
16g.20348475G>ACA494097014UMODc.826C>T (p.Leu276=)
c.925C>T (p.Leu309=)
c.973C>T (p.Leu325=)
c.910C>T (p.Leu304=)
n.1051C>T
16g.20348475G>CCA394984195UMODc.826C>G (p.Leu276Val)
c.925C>G (p.Leu309Val)
c.973C>G (p.Leu325Val)
c.910C>G (p.Leu304Val)
n.1051C>G
16g.20348475G>TCA394984191UMODc.826C>A (p.Leu276Met)
c.925C>A (p.Leu309Met)
c.973C>A (p.Leu325Met)
c.910C>A (p.Leu304Met)
n.1051C>A
 gnomAD v4
16g.20348476G>ACA494097018UMODc.825C>T (p.Asn275=)
c.924C>T (p.Asn308=)
c.972C>T (p.Asn324=)
c.909C>T (p.Asn303=)
n.1050C>T
 gnomAD v4
16g.20348476G>CCA394984197UMODc.825C>G (p.Asn275Lys)
c.924C>G (p.Asn308Lys)
c.972C>G (p.Asn324Lys)
c.909C>G (p.Asn303Lys)
n.1050C>G
16g.20348476G>TCA394984199UMODc.825C>A (p.Asn275Lys)
c.924C>A (p.Asn308Lys)
c.972C>A (p.Asn324Lys)
c.909C>A (p.Asn303Lys)
n.1050C>A
 gnomAD v4
16g.20348477T>ACA394984200UMODc.824A>T (p.Asn275Ile)
c.923A>T (p.Asn308Ile)
c.971A>T (p.Asn324Ile)
c.908A>T (p.Asn303Ile)
n.1049A>T
16g.20348477T>CCA7939398UMODc.824A>G (p.Asn275Ser)
c.923A>G (p.Asn308Ser)
c.971A>G (p.Asn324Ser)
c.908A>G (p.Asn303Ser)
n.1049A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.20348477T>GCA394984203UMODc.824A>C (p.Asn275Thr)
c.923A>C (p.Asn308Thr)
c.971A>C (p.Asn324Thr)
c.908A>C (p.Asn303Thr)
n.1049A>C
16g.20348477T=CA2211941835UMODc.824A= (p.Asn275=)
c.923A= (p.Asn308=)
c.971A= (p.Asn324=)
c.908A= (p.Asn303=)
n.1049A=
16g.20348478T>ACA279299606UMODc.823A>T (p.Asn275Tyr)
c.922A>T (p.Asn308Tyr)
c.970A>T (p.Asn324Tyr)
c.907A>T (p.Asn303Tyr)
n.1048A>T
 dbSNP
16g.20348478T>CCA394984207UMODc.823A>G (p.Asn275Asp)
c.922A>G (p.Asn308Asp)
c.970A>G (p.Asn324Asp)
c.907A>G (p.Asn303Asp)
n.1048A>G
16g.20348478T>GCA394984209UMODc.823A>C (p.Asn275His)
c.922A>C (p.Asn308His)
c.970A>C (p.Asn324His)
c.907A>C (p.Asn303His)
n.1048A>C
16g.20348478T=CA2211941839UMODc.823A= (p.Asn275=)
c.922A= (p.Asn308=)
c.970A= (p.Asn324=)
c.907A= (p.Asn303=)
n.1048A=
16g.20348479G>ACA494097021UMODc.822C>T (p.Tyr274=)
c.921C>T (p.Tyr307=)
c.969C>T (p.Tyr323=)
c.906C>T (p.Tyr302=)
n.1047C>T
16g.20348479G>CCA394984214UMODc.822C>G (p.Tyr274Ter)
c.921C>G (p.Tyr307Ter)
c.969C>G (p.Tyr323Ter)
c.906C>G (p.Tyr302Ter)
n.1047C>G
16g.20348479G=CA2211941844UMODc.822C= (p.Tyr274=)
c.921C= (p.Tyr307=)
c.969C= (p.Tyr323=)
c.906C= (p.Tyr302=)
n.1047C=
16g.20348479G>TCA394984217UMODc.822C>A (p.Tyr274Ter)
c.921C>A (p.Tyr307Ter)
c.969C>A (p.Tyr323Ter)
c.906C>A (p.Tyr302Ter)
n.1047C>A
 dbSNP gnomAD v3 gnomAD v4
16g.20348480T>ACA394984222UMODc.821A>T (p.Tyr274Phe)
c.920A>T (p.Tyr307Phe)
c.968A>T (p.Tyr323Phe)
c.905A>T (p.Tyr302Phe)
n.1046A>T
16g.20348480T>CCA7939399UMODc.821A>G (p.Tyr274Cys)
c.920A>G (p.Tyr307Cys)
c.968A>G (p.Tyr323Cys)
c.905A>G (p.Tyr302Cys)
n.1046A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.20348480T>GCA394984230UMODc.821A>C (p.Tyr274Ser)
c.920A>C (p.Tyr307Ser)
c.968A>C (p.Tyr323Ser)
c.905A>C (p.Tyr302Ser)
n.1046A>C
16g.20348480T=CA2211941847UMODc.821A= (p.Tyr274=)
c.920A= (p.Tyr307=)
c.968A= (p.Tyr323=)
c.905A= (p.Tyr302=)
n.1046A=
16g.20348481A>CCA394984234UMODc.820T>G (p.Tyr274Asp)
c.919T>G (p.Tyr307Asp)
c.967T>G (p.Tyr323Asp)
c.904T>G (p.Tyr302Asp)
n.1045T>G
16g.20348481A>GCA394984236UMODc.820T>C (p.Tyr274His)
c.919T>C (p.Tyr307His)
c.967T>C (p.Tyr323His)
c.904T>C (p.Tyr302His)
n.1045T>C
 gnomAD v4
16g.20348481A>TCA394984235UMODc.820T>A (p.Tyr274Asn)
c.919T>A (p.Tyr307Asn)
c.967T>A (p.Tyr323Asn)
c.904T>A (p.Tyr302Asn)
n.1045T>A
16g.20348482G>ACA494097025UMODc.819C>T (p.Val273=)
c.918C>T (p.Val306=)
c.966C>T (p.Val322=)
c.903C>T (p.Val301=)
n.1044C>T
16g.20348482G>CCA494097026UMODc.819C>G (p.Val273=)
c.918C>G (p.Val306=)
c.966C>G (p.Val322=)
c.903C>G (p.Val301=)
n.1044C>G
16g.20348482G>TCA494097028UMODc.819C>A (p.Val273=)
c.918C>A (p.Val306=)
c.966C>A (p.Val322=)
c.903C>A (p.Val301=)
n.1044C>A
 gnomAD v4
16g.20348483A>CCA394984240UMODc.818T>G (p.Val273Gly)
c.917T>G (p.Val306Gly)
c.965T>G (p.Val322Gly)
c.902T>G (p.Val301Gly)
n.1043T>G
16g.20348483A>GCA394984242UMODc.818T>C (p.Val273Ala)
c.917T>C (p.Val306Ala)
c.965T>C (p.Val322Ala)
c.902T>C (p.Val301Ala)
n.1043T>C
16g.20348483A>TCA394984243UMODc.818T>A (p.Val273Asp)
c.917T>A (p.Val306Asp)
c.965T>A (p.Val322Asp)
c.902T>A (p.Val301Asp)
n.1043T>A
16g.20348484C>ACA256256UMODc.817G>T (p.Val273Phe)
c.916G>T (p.Val306Phe)
c.964G>T (p.Val322Phe)
c.901G>T (p.Val301Phe)
n.1042G>T
 ClinVar dbSNP
16g.20348484C=CA2211941854UMODc.817G= (p.Val273=)
c.916G= (p.Val306=)
c.964G= (p.Val322=)
c.901G= (p.Val301=)
n.1042G=
16g.20348484C>GCA394984251UMODc.817G>C (p.Val273Leu)
c.916G>C (p.Val306Leu)
c.964G>C (p.Val322Leu)
c.901G>C (p.Val301Leu)
n.1042G>C
 dbSNP
16g.20348484C>TCA394984252UMODc.817G>A (p.Val273Ile)
c.916G>A (p.Val306Ile)
c.964G>A (p.Val322Ile)
c.901G>A (p.Val301Ile)
n.1042G>A
 dbSNP gnomAD v4
16g.20348485G>ACA494097030UMODc.816C>T (p.Tyr272=)
c.915C>T (p.Tyr305=)
c.963C>T (p.Tyr321=)
c.900C>T (p.Tyr300=)
n.1041C>T
 gnomAD v4
16g.20348485G>CCA394984255UMODc.816C>G (p.Tyr272Ter)
c.915C>G (p.Tyr305Ter)
c.963C>G (p.Tyr321Ter)
c.900C>G (p.Tyr300Ter)
n.1041C>G
 dbSNP gnomAD v2
16g.20348485G=CA2211941873UMODc.816C= (p.Tyr272=)
c.915C= (p.Tyr305=)
c.963C= (p.Tyr321=)
c.900C= (p.Tyr300=)
n.1041C=
16g.20348485G>TCA7939400UMODc.816C>A (p.Tyr272Ter)
c.915C>A (p.Tyr305Ter)
c.963C>A (p.Tyr321Ter)
c.900C>A (p.Tyr300Ter)
n.1041C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.20348489_20348491delCA2695222873UMODc.814_816del (p.Tyr272del)
c.913_915del (p.Tyr305del)
c.961_963del (p.Tyr321del)
c.898_900del (p.Tyr300del)
n.1039_1041del
16g.20348486T>ACA394984259UMODc.815A>T (p.Tyr272Phe)
c.914A>T (p.Tyr305Phe)
c.962A>T (p.Tyr321Phe)
c.899A>T (p.Tyr300Phe)
n.1040A>T
16g.20348486T>CCA394984261UMODc.815A>G (p.Tyr272Cys)
c.914A>G (p.Tyr305Cys)
c.962A>G (p.Tyr321Cys)
c.899A>G (p.Tyr300Cys)
n.1040A>G
16g.20348486T>GCA394984263UMODc.815A>C (p.Tyr272Ser)
c.914A>C (p.Tyr305Ser)
c.962A>C (p.Tyr321Ser)
c.899A>C (p.Tyr300Ser)
n.1040A>C
16g.20348487A>CCA394984273UMODc.814T>G (p.Tyr272Asp)
c.913T>G (p.Tyr305Asp)
c.961T>G (p.Tyr321Asp)
c.898T>G (p.Tyr300Asp)
n.1039T>G
16g.20348487A>GCA394984270UMODc.814T>C (p.Tyr272His)
c.913T>C (p.Tyr305His)
c.961T>C (p.Tyr321His)
c.898T>C (p.Tyr300His)
n.1039T>C
 gnomAD v4
16g.20348487A>TCA394984266UMODc.814T>A (p.Tyr272Asn)
c.913T>A (p.Tyr305Asn)
c.961T>A (p.Tyr321Asn)
c.898T>A (p.Tyr300Asn)
n.1039T>A
 COSMIC
16g.20348488G>ACA494097036UMODc.813C>T (p.Tyr271=)
c.912C>T (p.Tyr304=)
c.960C>T (p.Tyr320=)
c.897C>T (p.Tyr299=)
n.1038C>T
 dbSNP gnomAD v2
16g.20348488G>CCA394984275UMODc.813C>G (p.Tyr271Ter)
c.912C>G (p.Tyr304Ter)
c.960C>G (p.Tyr320Ter)
c.897C>G (p.Tyr299Ter)
n.1038C>G
16g.20348488G=CA2211941877UMODc.813C= (p.Tyr271=)
c.912C= (p.Tyr304=)
c.960C= (p.Tyr320=)
c.897C= (p.Tyr299=)
n.1038C=
16g.20348488G>TCA394984278UMODc.813C>A (p.Tyr271Ter)
c.912C>A (p.Tyr304Ter)
c.960C>A (p.Tyr320Ter)
c.897C>A (p.Tyr299Ter)
n.1038C>A
 gnomAD v4
16g.20348489T>ACA394984283UMODc.812A>T (p.Tyr271Phe)
c.911A>T (p.Tyr304Phe)
c.959A>T (p.Tyr320Phe)
c.896A>T (p.Tyr299Phe)
n.1037A>T
 gnomAD v4
16g.20348489T>CCA394984285UMODc.812A>G (p.Tyr271Cys)
c.911A>G (p.Tyr304Cys)
c.959A>G (p.Tyr320Cys)
c.896A>G (p.Tyr299Cys)
n.1037A>G
 ClinVar
16g.20348489T>GCA394984286UMODc.812A>C (p.Tyr271Ser)
c.911A>C (p.Tyr304Ser)
c.959A>C (p.Tyr320Ser)
c.896A>C (p.Tyr299Ser)
n.1037A>C
16g.20348490A>CCA394984288UMODc.811T>G (p.Tyr271Asp)
c.910T>G (p.Tyr304Asp)
c.958T>G (p.Tyr320Asp)
c.895T>G (p.Tyr299Asp)
n.1036T>G
16g.20348490A>GCA394984291UMODc.811T>C (p.Tyr271His)
c.910T>C (p.Tyr304His)
c.958T>C (p.Tyr320His)
c.895T>C (p.Tyr299His)
n.1036T>C
16g.20348490A>TCA394984293UMODc.811T>A (p.Tyr271Asn)
c.910T>A (p.Tyr304Asn)
c.958T>A (p.Tyr320Asn)
c.895T>A (p.Tyr299Asn)
n.1036T>A
16g.20348491G>ACA494097043UMODc.810C>T (p.Gly270=)
c.909C>T (p.Gly303=)
c.957C>T (p.Gly319=)
c.894C>T (p.Gly298=)
n.1035C>T
16g.20348491G>CCA494097044UMODc.810C>G (p.Gly270=)
c.909C>G (p.Gly303=)
c.957C>G (p.Gly319=)
c.894C>G (p.Gly298=)
n.1035C>G
 dbSNP
16g.20348491G=CA2211941880UMODc.810C= (p.Gly270=)
c.909C= (p.Gly303=)
c.957C= (p.Gly319=)
c.894C= (p.Gly298=)
n.1035C=
16g.20348491G>TCA494097045UMODc.810C>A (p.Gly270=)
c.909C>A (p.Gly303=)
c.957C>A (p.Gly319=)
c.894C>A (p.Gly298=)
n.1035C>A
 gnomAD v4
16g.20348492C>ACA394984299UMODc.809G>T (p.Gly270Val)
c.908G>T (p.Gly303Val)
c.956G>T (p.Gly319Val)
c.893G>T (p.Gly298Val)
n.1034G>T
16g.20348492C=CA2211941884UMODc.809G= (p.Gly270=)
c.908G= (p.Gly303=)
c.956G= (p.Gly319=)
c.893G= (p.Gly298=)
n.1034G=
16g.20348492C>GCA394984302UMODc.809G>C (p.Gly270Ala)
c.908G>C (p.Gly303Ala)
c.956G>C (p.Gly319Ala)
c.893G>C (p.Gly298Ala)
n.1034G>C
16g.20348492C>TCA394984303UMODc.809G>A (p.Gly270Asp)
c.908G>A (p.Gly303Asp)
c.956G>A (p.Gly319Asp)
c.893G>A (p.Gly298Asp)
n.1034G>A
 dbSNP gnomAD v2
16g.20348493C>ACA394984317UMODc.808G>T (p.Gly270Cys)
c.907G>T (p.Gly303Cys)
c.955G>T (p.Gly319Cys)
c.892G>T (p.Gly298Cys)
n.1033G>T
 ClinVar dbSNP
16g.20348493C=CA2211941892UMODc.808G= (p.Gly270=)
c.907G= (p.Gly303=)
c.955G= (p.Gly319=)
c.892G= (p.Gly298=)
n.1033G=
16g.20348493C>GCA394984310UMODc.808G>C (p.Gly270Arg)
c.907G>C (p.Gly303Arg)
c.955G>C (p.Gly319Arg)
c.892G>C (p.Gly298Arg)
n.1033G>C
16g.20348493C>TCA7939401UMODc.808G>A (p.Gly270Ser)
c.907G>A (p.Gly303Ser)
c.955G>A (p.Gly319Ser)
c.892G>A (p.Gly298Ser)
n.1033G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.20348494G>ACA494097054UMODc.807C>T (p.Gly269=)
c.906C>T (p.Gly302=)
c.954C>T (p.Gly318=)
c.891C>T (p.Gly297=)
n.1032C>T
 gnomAD v4
16g.20348494G>CCA494097055UMODc.807C>G (p.Gly269=)
c.906C>G (p.Gly302=)
c.954C>G (p.Gly318=)
c.891C>G (p.Gly297=)
n.1032C>G
16g.20348494G=CA2211941902UMODc.807C= (p.Gly269=)
c.906C= (p.Gly302=)
c.954C= (p.Gly318=)
c.891C= (p.Gly297=)
n.1032C=
16g.20348494G>TCA494097056UMODc.807C>A (p.Gly269=)
c.906C>A (p.Gly302=)
c.954C>A (p.Gly318=)
c.891C>A (p.Gly297=)
n.1032C>A
 dbSNP gnomAD v2 gnomAD v4
16g.20348494_20348498delCA2511452837UMODc.803_807del (p.Ala268GlyfsTer29)
c.902_906del (p.Ala301GlyfsTer29)
c.950_954del (p.Ala317GlyfsTer29)
c.887_891del (p.Ala296GlyfsTer29)
n.1028_1032del
16g.20348495C>ACA394984320UMODc.806G>T (p.Gly269Val)
c.905G>T (p.Gly302Val)
c.953G>T (p.Gly318Val)
c.890G>T (p.Gly297Val)
n.1031G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.20348495C=CA2211941905UMODc.806G= (p.Gly269=)
c.905G= (p.Gly302=)
c.953G= (p.Gly318=)
c.890G= (p.Gly297=)
n.1031G=
16g.20348495C>GCA394984326UMODc.806G>C (p.Gly269Ala)
c.905G>C (p.Gly302Ala)
c.953G>C (p.Gly318Ala)
c.890G>C (p.Gly297Ala)
n.1031G>C
16g.20348495C>TCA394984322UMODc.806G>A (p.Gly269Asp)
c.905G>A (p.Gly302Asp)
c.953G>A (p.Gly318Asp)
c.890G>A (p.Gly297Asp)
n.1031G>A
 gnomAD v4
16g.20348496C>ACA394984329UMODc.805G>T (p.Gly269Cys)
c.904G>T (p.Gly302Cys)
c.952G>T (p.Gly318Cys)
c.889G>T (p.Gly297Cys)
n.1030G>T
 gnomAD v4
16g.20348496C=CA2211941910UMODc.805G= (p.Gly269=)
c.904G= (p.Gly302=)
c.952G= (p.Gly318=)
c.889G= (p.Gly297=)
n.1030G=
16g.20348496C>GCA394984332UMODc.805G>C (p.Gly269Arg)
c.904G>C (p.Gly302Arg)
c.952G>C (p.Gly318Arg)
c.889G>C (p.Gly297Arg)
n.1030G>C
16g.20348496C>TCA7939402UMODc.805G>A (p.Gly269Ser)
c.904G>A (p.Gly302Ser)
c.952G>A (p.Gly318Ser)
c.889G>A (p.Gly297Ser)
n.1030G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.20348497G>ACA494097059UMODc.804C>T (p.Ala268=)
c.903C>T (p.Ala301=)
c.951C>T (p.Ala317=)
c.888C>T (p.Ala296=)
n.1029C>T
 dbSNP gnomAD v2 gnomAD v4
16g.20348497G>CCA7939404UMODc.804C>G (p.Ala268=)
c.903C>G (p.Ala301=)
c.951C>G (p.Ala317=)
c.888C>G (p.Ala296=)
n.1029C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.20348497G=CA2211941918UMODc.804C= (p.Ala268=)
c.903C= (p.Ala301=)
c.951C= (p.Ala317=)
c.888C= (p.Ala296=)
n.1029C=
16g.20348497G>TCA7939403UMODc.804C>A (p.Ala268=)
c.903C>A (p.Ala301=)
c.951C>A (p.Ala317=)
c.888C>A (p.Ala296=)
n.1029C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.20348498G>ACA394984345UMODc.803C>T (p.Ala268Val)
c.902C>T (p.Ala301Val)
c.950C>T (p.Ala317Val)
c.887C>T (p.Ala296Val)
n.1028C>T
 gnomAD v4
16g.20348498G>CCA394984350UMODc.803C>G (p.Ala268Gly)
c.902C>G (p.Ala301Gly)
c.950C>G (p.Ala317Gly)
c.887C>G (p.Ala296Gly)
n.1028C>G
16g.20348498G>TCA394984354UMODc.803C>A (p.Ala268Asp)
c.902C>A (p.Ala301Asp)
c.950C>A (p.Ala317Asp)
c.887C>A (p.Ala296Asp)
n.1028C>A
 gnomAD v4
16g.20348498_20348499insATCA2501700175UMODc.802_803insAT (p.Ala268AspfsTer10)
c.901_902insAT (p.Ala301AspfsTer10)
c.949_950insAT (p.Ala317AspfsTer10)
c.886_887insAT (p.Ala296AspfsTer10)
n.1027_1028insAT
16g.20348499C>ACA394984363UMODc.802G>T (p.Ala268Ser)
c.901G>T (p.Ala301Ser)
c.949G>T (p.Ala317Ser)
c.886G>T (p.Ala296Ser)
n.1027G>T
16g.20348499C>GCA394984364UMODc.802G>C (p.Ala268Pro)
c.901G>C (p.Ala301Pro)
c.949G>C (p.Ala317Pro)
c.886G>C (p.Ala296Pro)
n.1027G>C
16g.20348499C>TCA394984365UMODc.802G>A (p.Ala268Thr)
c.901G>A (p.Ala301Thr)
c.949G>A (p.Ala317Thr)
c.886G>A (p.Ala296Thr)
n.1027G>A
16g.20348500A>CCA394984368UMODc.801T>G (p.Cys267Trp)
c.900T>G (p.Cys300Trp)
c.948T>G (p.Cys316Trp)
c.885T>G (p.Cys295Trp)
n.1026T>G
16g.20348500A>GCA494097064UMODc.801T>C (p.Cys267=)
c.900T>C (p.Cys300=)
c.948T>C (p.Cys316=)
c.885T>C (p.Cys295=)
n.1026T>C
16g.20348500A>TCA394984366UMODc.801T>A (p.Cys267Ter)
c.900T>A (p.Cys300Ter)
c.948T>A (p.Cys316Ter)
c.885T>A (p.Cys295Ter)
n.1026T>A
16g.20348501C>ACA394984370UMODc.800G>T (p.Cys267Phe)
c.899G>T (p.Cys300Phe)
c.947G>T (p.Cys316Phe)
c.884G>T (p.Cys295Phe)
n.1025G>T
 ClinVar dbSNP
16g.20348501C>GCA394984378UMODc.800G>C (p.Cys267Ser)
c.899G>C (p.Cys300Ser)
c.947G>C (p.Cys316Ser)
c.884G>C (p.Cys295Ser)
n.1025G>C
16g.20348501C>TCA394984381UMODc.800G>A (p.Cys267Tyr)
c.899G>A (p.Cys300Tyr)
c.947G>A (p.Cys316Tyr)
c.884G>A (p.Cys295Tyr)
n.1025G>A
16g.20348502A>CCA394984385UMODc.799T>G (p.Cys267Gly)
c.898T>G (p.Cys300Gly)
c.946T>G (p.Cys316Gly)
c.883T>G (p.Cys295Gly)
n.1024T>G
16g.20348502A>GCA394984393UMODc.799T>C (p.Cys267Arg)
c.898T>C (p.Cys300Arg)
c.946T>C (p.Cys316Arg)
c.883T>C (p.Cys295Arg)
n.1024T>C
 ClinVar
16g.20348502A>TCA394984395UMODc.799T>A (p.Cys267Ser)
c.898T>A (p.Cys300Ser)
c.946T>A (p.Cys316Ser)
c.883T>A (p.Cys295Ser)
n.1024T>A
16g.20348503G>ACA494097066UMODc.798C>T (p.Ala266=)
c.897C>T (p.Ala299=)
c.945C>T (p.Ala315=)
c.882C>T (p.Ala294=)
n.1023C>T
16g.20348503G>CCA494097067UMODc.798C>G (p.Ala266=)
c.897C>G (p.Ala299=)
c.945C>G (p.Ala315=)
c.882C>G (p.Ala294=)
n.1023C>G
16g.20348503G>TCA494097068UMODc.798C>A (p.Ala266=)
c.897C>A (p.Ala299=)
c.945C>A (p.Ala315=)
c.882C>A (p.Ala294=)
n.1023C>A
16g.20348503_20348504delinsTTCA645590585UMODc.797_798delinsAA (p.Ala266Glu)
c.896_897delinsAA (p.Ala299Glu)
c.944_945delinsAA (p.Ala315Glu)
c.881_882delinsAA (p.Ala294Glu)
n.1022_1023delinsAA
 COSMIC COSMIC
16g.20348504G>ACA216159UMODc.797C>T (p.Ala266Val)
c.896C>T (p.Ala299Val)
c.944C>T (p.Ala315Val)
c.881C>T (p.Ala294Val)
n.1022C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.20348504G>CCA394984398UMODc.797C>G (p.Ala266Gly)
c.896C>G (p.Ala299Gly)
c.944C>G (p.Ala315Gly)
c.881C>G (p.Ala294Gly)
n.1022C>G
16g.20348504G=CA2211941920UMODc.797C= (p.Ala266=)
c.896C= (p.Ala299=)
c.944C= (p.Ala315=)
c.881C= (p.Ala294=)
n.1022C=
16g.20348504G>TCA394984401UMODc.797C>A (p.Ala266Asp)
c.896C>A (p.Ala299Asp)
c.944C>A (p.Ala315Asp)
c.881C>A (p.Ala294Asp)
n.1022C>A
 gnomAD v4
16g.20348505C>ACA7939405UMODc.796G>T (p.Ala266Ser)
c.895G>T (p.Ala299Ser)
c.943G>T (p.Ala315Ser)
c.880G>T (p.Ala294Ser)
n.1021G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.20348505C=CA2211941925UMODc.796G= (p.Ala266=)
c.895G= (p.Ala299=)
c.943G= (p.Ala315=)
c.880G= (p.Ala294=)
n.1021G=
16g.20348505C>GCA394984404UMODc.796G>C (p.Ala266Pro)
c.895G>C (p.Ala299Pro)
c.943G>C (p.Ala315Pro)
c.880G>C (p.Ala294Pro)
n.1021G>C
16g.20348505C>TCA394984405UMODc.796G>A (p.Ala266Thr)
c.895G>A (p.Ala299Thr)
c.943G>A (p.Ala315Thr)
c.880G>A (p.Ala294Thr)
n.1021G>A
 gnomAD v4
16g.20348506C>ACA394984408UMODc.795G>T (p.Lys265Asn)
c.894G>T (p.Lys298Asn)
c.942G>T (p.Lys314Asn)
c.879G>T (p.Lys293Asn)
n.1020G>T
 gnomAD v4
16g.20348506C=CA2211941929UMODc.795G= (p.Lys265=)
c.894G= (p.Lys298=)
c.942G= (p.Lys314=)
c.879G= (p.Lys293=)
n.1020G=
16g.20348506C>GCA394984406UMODc.795G>C (p.Lys265Asn)
c.894G>C (p.Lys298Asn)
c.942G>C (p.Lys314Asn)
c.879G>C (p.Lys293Asn)
n.1020G>C
16g.20348506C>TCA494097075UMODc.795G>A (p.Lys265=)
c.894G>A (p.Lys298=)
c.942G>A (p.Lys314=)
c.879G>A (p.Lys293=)
n.1020G>A
 dbSNP gnomAD v3 gnomAD v4
16g.20348507T>ACA7939406UMODc.794A>T (p.Lys265Met)
c.893A>T (p.Lys298Met)
c.941A>T (p.Lys314Met)
c.878A>T (p.Lys293Met)
n.1019A>T
 dbSNP ExAC gnomAD v2
16g.20348507T>CCA394984416UMODc.794A>G (p.Lys265Arg)
c.893A>G (p.Lys298Arg)
c.941A>G (p.Lys314Arg)
c.878A>G (p.Lys293Arg)
n.1019A>G
 gnomAD v4
16g.20348507T>GCA394984418UMODc.794A>C (p.Lys265Thr)
c.893A>C (p.Lys298Thr)
c.941A>C (p.Lys314Thr)
c.878A>C (p.Lys293Thr)
n.1019A>C
 gnomAD v4
16g.20348507T=CA2211941934UMODc.794A= (p.Lys265=)
c.893A= (p.Lys298=)
c.941A= (p.Lys314=)
c.878A= (p.Lys293=)
n.1019A=
16g.20348508T>ACA394984421UMODc.793A>T (p.Lys265Ter)
c.892A>T (p.Lys298Ter)
c.940A>T (p.Lys314Ter)
c.877A>T (p.Lys293Ter)
n.1018A>T
16g.20348508T>CCA394984426UMODc.793A>G (p.Lys265Glu)
c.892A>G (p.Lys298Glu)
c.940A>G (p.Lys314Glu)
c.877A>G (p.Lys293Glu)
n.1018A>G
16g.20348508T>GCA394984429UMODc.793A>C (p.Lys265Gln)
c.892A>C (p.Lys298Gln)
c.940A>C (p.Lys314Gln)
c.877A>C (p.Lys293Gln)
n.1018A>C
16g.20348509_20348513delCA2806163729UMODc.789_793del (p.Val264GlyfsTer?)
c.888_892del (p.Val297GlyfsTer?)
c.936_940del (p.Val313GlyfsTer?)
c.873_877del (p.Val292GlyfsTer?)
n.1014_1018del
16g.20348508_20348515delinsTCACCTGGCA2211941936UMODc.786_793delinsCCAGGTGA (p.Val262=)
c.885_892delinsCCAGGTGA (p.Val295=)
c.933_940delinsCCAGGTGA (p.Val311=)
c.870_877delinsCCAGGTGA (p.Val290=)
n.1011_1018delinsCCAGGTGA
16g.20348509C>ACA494097080UMODc.792G>T (p.Val264=)
c.891G>T (p.Val297=)
c.939G>T (p.Val313=)
c.876G>T (p.Val292=)
n.1017G>T
 dbSNP gnomAD v4
16g.20348509C=CA2211941944UMODc.792G= (p.Val264=)
c.891G= (p.Val297=)
c.939G= (p.Val313=)
c.876G= (p.Val292=)
n.1017G=
16g.20348509C>GCA494097081UMODc.792G>C (p.Val264=)
c.891G>C (p.Val297=)
c.939G>C (p.Val313=)
c.876G>C (p.Val292=)
n.1017G>C
16g.20348509C>TCA147649UMODc.792G>A (p.Val264=)
c.891G>A (p.Val297=)
c.939G>A (p.Val313=)
c.876G>A (p.Val292=)
n.1017G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.20348509_20348515delCA2211941945UMODc.786_792del (p.Gln263ArgfsTer12)
c.885_891del (p.Gln296ArgfsTer12)
c.933_939del (p.Gln312ArgfsTer12)
c.870_876del (p.Gln291ArgfsTer12)
n.1011_1017del
 dbSNP
16g.20348510A=CA2211941961UMODc.791T= (p.Val264=)
c.890T= (p.Val297=)
c.938T= (p.Val313=)
c.875T= (p.Val292=)
n.1016T=
16g.20348510A>CCA394984434UMODc.791T>G (p.Val264Gly)
c.890T>G (p.Val297Gly)
c.938T>G (p.Val313Gly)
c.875T>G (p.Val292Gly)
n.1016T>G
 dbSNP
16g.20348510A>GCA394984435UMODc.791T>C (p.Val264Ala)
c.890T>C (p.Val297Ala)
c.938T>C (p.Val313Ala)
c.875T>C (p.Val292Ala)
n.1016T>C
16g.20348510A>TCA394984437UMODc.791T>A (p.Val264Glu)
c.890T>A (p.Val297Glu)
c.938T>A (p.Val313Glu)
c.875T>A (p.Val292Glu)
n.1016T>A
16g.20348511C>ACA394984439UMODc.790G>T (p.Val264Leu)
c.889G>T (p.Val297Leu)
c.937G>T (p.Val313Leu)
c.874G>T (p.Val292Leu)
n.1015G>T
16g.20348511C=CA2211941968UMODc.790G= (p.Val264=)
c.889G= (p.Val297=)
c.937G= (p.Val313=)
c.874G= (p.Val292=)
n.1015G=
16g.20348511C>GCA394984441UMODc.790G>C (p.Val264Leu)
c.889G>C (p.Val297Leu)
c.937G>C (p.Val313Leu)
c.874G>C (p.Val292Leu)
n.1015G>C
 COSMIC COSMIC
16g.20348511C>TCA7939407UMODc.790G>A (p.Val264Met)
c.889G>A (p.Val297Met)
c.937G>A (p.Val313Met)
c.874G>A (p.Val292Met)
n.1015G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.20348512C>ACA394984449UMODc.789G>T (p.Gln263His)
c.888G>T (p.Gln296His)
c.936G>T (p.Gln312His)
c.873G>T (p.Gln291His)
n.1014G>T
 dbSNP gnomAD v2 gnomAD v4
16g.20348512C=CA2211941973UMODc.789G= (p.Gln263=)
c.888G= (p.Gln296=)
c.936G= (p.Gln312=)
c.873G= (p.Gln291=)
n.1014G=
16g.20348512C>GCA394984446UMODc.789G>C (p.Gln263His)
c.888G>C (p.Gln296His)
c.936G>C (p.Gln312His)
c.873G>C (p.Gln291His)
n.1014G>C
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
16g.20348512C>TCA494097090UMODc.789G>A (p.Gln263=)
c.888G>A (p.Gln296=)
c.936G>A (p.Gln312=)
c.873G>A (p.Gln291=)
n.1014G>A
 gnomAD v4
16g.20348513T>ACA394984454UMODc.788A>T (p.Gln263Leu)
c.887A>T (p.Gln296Leu)
c.935A>T (p.Gln312Leu)
c.872A>T (p.Gln291Leu)
n.1013A>T
16g.20348513T>CCA394984456UMODc.788A>G (p.Gln263Arg)
c.887A>G (p.Gln296Arg)
c.935A>G (p.Gln312Arg)
c.872A>G (p.Gln291Arg)
n.1013A>G
 gnomAD v4
16g.20348513T>GCA394984458UMODc.788A>C (p.Gln263Pro)
c.887A>C (p.Gln296Pro)
c.935A>C (p.Gln312Pro)
c.872A>C (p.Gln291Pro)
n.1013A>C
16g.20348514G>ACA394984462UMODc.787C>T (p.Gln263Ter)
c.886C>T (p.Gln296Ter)
c.934C>T (p.Gln312Ter)
c.871C>T (p.Gln291Ter)
n.1012C>T
 COSMIC
16g.20348514G>CCA394984465UMODc.787C>G (p.Gln263Glu)
c.886C>G (p.Gln296Glu)
c.934C>G (p.Gln312Glu)
c.871C>G (p.Gln291Glu)
n.1012C>G
16g.20348514G>TCA394984467UMODc.787C>A (p.Gln263Lys)
c.886C>A (p.Gln296Lys)
c.934C>A (p.Gln312Lys)
c.871C>A (p.Gln291Lys)
n.1012C>A
16g.20348515G>ACA7939408UMODc.786C>T (p.Val262=)
c.885C>T (p.Val295=)
c.933C>T (p.Val311=)
c.870C>T (p.Val290=)
n.1011C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.20348515G>CCA494097094UMODc.786C>G (p.Val262=)
c.885C>G (p.Val295=)
c.933C>G (p.Val311=)
c.870C>G (p.Val290=)
n.1011C>G
16g.20348515G=CA2211941983UMODc.786C= (p.Val262=)
c.885C= (p.Val295=)
c.933C= (p.Val311=)
c.870C= (p.Val290=)
n.1011C=
16g.20348515G>TCA494097096UMODc.786C>A (p.Val262=)
c.885C>A (p.Val295=)
c.933C>A (p.Val311=)
c.870C>A (p.Val290=)
n.1011C>A
16g.20348515_20348516delCA2806163730UMODc.785_786del (p.Val262AlafsTer?)
c.884_885del (p.Val295AlafsTer?)
c.932_933del (p.Val311AlafsTer?)
c.869_870del (p.Val290AlafsTer?)
n.1010_1011del
16g.20348516A=CA2211941987UMODc.785T= (p.Val262=)
c.884T= (p.Val295=)
c.932T= (p.Val311=)
c.869T= (p.Val290=)
n.1010T=
16g.20348516A>CCA394984473UMODc.785T>G (p.Val262Gly)
c.884T>G (p.Val295Gly)
c.932T>G (p.Val311Gly)
c.869T>G (p.Val290Gly)
n.1010T>G
16g.20348516A>GCA394984475UMODc.785T>C (p.Val262Ala)
c.884T>C (p.Val295Ala)
c.932T>C (p.Val311Ala)
c.869T>C (p.Val290Ala)
n.1010T>C
 dbSNP gnomAD v4
16g.20348516A>TCA394984477UMODc.785T>A (p.Val262Asp)
c.884T>A (p.Val295Asp)
c.932T>A (p.Val311Asp)
c.869T>A (p.Val290Asp)
n.1010T>A
16g.20348517C>ACA394984480UMODc.784G>T (p.Val262Phe)
c.883G>T (p.Val295Phe)
c.931G>T (p.Val311Phe)
c.868G>T (p.Val290Phe)
n.1009G>T
16g.20348517C>GCA394984482UMODc.784G>C (p.Val262Leu)
c.883G>C (p.Val295Leu)
c.931G>C (p.Val311Leu)
c.868G>C (p.Val290Leu)
n.1009G>C
16g.20348517C>TCA394984495UMODc.784G>A (p.Val262Ile)
c.883G>A (p.Val295Ile)
c.931G>A (p.Val311Ile)
c.868G>A (p.Val290Ile)
n.1009G>A
16g.20348518G>ACA494097097UMODc.783C>T (p.Ser261=)
c.882C>T (p.Ser294=)
c.930C>T (p.Ser310=)
c.867C>T (p.Ser289=)
n.1008C>T
16g.20348518G>CCA494097098UMODc.783C>G (p.Ser261=)
c.882C>G (p.Ser294=)
c.930C>G (p.Ser310=)
c.867C>G (p.Ser289=)
n.1008C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.20348518G=CA2211941992UMODc.783C= (p.Ser261=)
c.882C= (p.Ser294=)
c.930C= (p.Ser310=)
c.867C= (p.Ser289=)
n.1008C=
16g.20348518G>TCA494097099UMODc.783C>A (p.Ser261=)
c.882C>A (p.Ser294=)
c.930C>A (p.Ser310=)
c.867C>A (p.Ser289=)
n.1008C>A
 dbSNP gnomAD v2 gnomAD v4
16g.20348519G>ACA394984503UMODc.782C>T (p.Ser261Phe)
c.881C>T (p.Ser294Phe)
c.929C>T (p.Ser310Phe)
c.866C>T (p.Ser289Phe)
n.1007C>T
 gnomAD v4
16g.20348519G>CCA394984506UMODc.782C>G (p.Ser261Cys)
c.881C>G (p.Ser294Cys)
c.929C>G (p.Ser310Cys)
c.866C>G (p.Ser289Cys)
n.1007C>G
16g.20348519G>TCA394984500UMODc.782C>A (p.Ser261Tyr)
c.881C>A (p.Ser294Tyr)
c.929C>A (p.Ser310Tyr)
c.866C>A (p.Ser289Tyr)
n.1007C>A
 gnomAD v4
16g.20348519_20348527delinsGACGCATCCCA2211941996UMODc.774_782delinsGGATGCGTC (p.Trp258=)
c.873_881delinsGGATGCGTC (p.Trp291=)
c.921_929delinsGGATGCGTC (p.Trp307=)
c.858_866delinsGGATGCGTC (p.Trp286=)
n.999_1007delinsGGATGCGTC
16g.20348520A>CCA394984511UMODc.781T>G (p.Ser261Ala)
c.880T>G (p.Ser294Ala)
c.928T>G (p.Ser310Ala)
c.865T>G (p.Ser289Ala)
n.1006T>G
16g.20348520A>GCA394984508UMODc.781T>C (p.Ser261Pro)
c.880T>C (p.Ser294Pro)
c.928T>C (p.Ser310Pro)
c.865T>C (p.Ser289Pro)
n.1006T>C
 gnomAD v4
16g.20348520A>TCA394984515UMODc.781T>A (p.Ser261Thr)
c.880T>A (p.Ser294Thr)
c.928T>A (p.Ser310Thr)
c.865T>A (p.Ser289Thr)
n.1006T>A
16g.20348520_20348527delCA2211942001UMODc.774_781del (p.Trp258CysfsTer?)
c.873_880del (p.Trp291CysfsTer?)
c.921_928del (p.Trp307CysfsTer?)
c.858_865del (p.Trp286CysfsTer?)
n.999_1006del
 dbSNP
16g.20348521C>ACA494097106UMODc.780G>T (p.Ala260=)
c.879G>T (p.Ala293=)
c.927G>T (p.Ala309=)
c.864G>T (p.Ala288=)
n.1005G>T
 gnomAD v4
16g.20348521C=CA2211942004UMODc.780G= (p.Ala260=)
c.879G= (p.Ala293=)
c.927G= (p.Ala309=)
c.864G= (p.Ala288=)
n.1005G=
16g.20348521C>GCA494097107UMODc.780G>C (p.Ala260=)
c.879G>C (p.Ala293=)
c.927G>C (p.Ala309=)
c.864G>C (p.Ala288=)
n.1005G>C
16g.20348521C>TCA494097108UMODc.780G>A (p.Ala260=)
c.879G>A (p.Ala293=)
c.927G>A (p.Ala309=)
c.864G>A (p.Ala288=)
n.1005G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.20348522G>ACA394984518UMODc.779C>T (p.Ala260Val)
c.878C>T (p.Ala293Val)
c.926C>T (p.Ala309Val)
c.863C>T (p.Ala288Val)
n.1004C>T
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
16g.20348522G>CCA394984519UMODc.779C>G (p.Ala260Gly)
c.878C>G (p.Ala293Gly)
c.926C>G (p.Ala309Gly)
c.863C>G (p.Ala288Gly)
n.1004C>G
16g.20348522G=CA2211942013UMODc.779C= (p.Ala260=)
c.878C= (p.Ala293=)
c.926C= (p.Ala309=)
c.863C= (p.Ala288=)
n.1004C=
16g.20348522G>TCA279299665UMODc.779C>A (p.Ala260Glu)
c.878C>A (p.Ala293Glu)
c.926C>A (p.Ala309Glu)
c.863C>A (p.Ala288Glu)
n.1004C>A
 dbSNP gnomAD v2 gnomAD v4
16g.20348523C>ACA394984522UMODc.778G>T (p.Ala260Ser)
c.877G>T (p.Ala293Ser)
c.925G>T (p.Ala309Ser)
c.862G>T (p.Ala288Ser)
n.1003G>T
16g.20348523C>GCA394984523UMODc.778G>C (p.Ala260Pro)
c.877G>C (p.Ala293Pro)
c.925G>C (p.Ala309Pro)
c.862G>C (p.Ala288Pro)
n.1003G>C
16g.20348523C>TCA394984524UMODc.778G>A (p.Ala260Thr)
c.877G>A (p.Ala293Thr)
c.925G>A (p.Ala309Thr)
c.862G>A (p.Ala288Thr)
n.1003G>A
16g.20348524A>CCA394984525UMODc.777T>G (p.Asp259Glu)
c.876T>G (p.Asp292Glu)
c.924T>G (p.Asp308Glu)
c.861T>G (p.Asp287Glu)
n.1002T>G
16g.20348524A>GCA494097109UMODc.777T>C (p.Asp259=)
c.876T>C (p.Asp292=)
c.924T>C (p.Asp308=)
c.861T>C (p.Asp287=)
n.1002T>C
 gnomAD v4
16g.20348524A>TCA394984529UMODc.777T>A (p.Asp259Glu)
c.876T>A (p.Asp292Glu)
c.924T>A (p.Asp308Glu)
c.861T>A (p.Asp287Glu)
n.1002T>A
16g.20348525T>ACA394984532UMODc.776A>T (p.Asp259Val)
c.875A>T (p.Asp292Val)
c.923A>T (p.Asp308Val)
c.860A>T (p.Asp287Val)
n.1001A>T
16g.20348525T>CCA394984534UMODc.776A>G (p.Asp259Gly)
c.875A>G (p.Asp292Gly)
c.923A>G (p.Asp308Gly)
c.860A>G (p.Asp287Gly)
n.1001A>G
 COSMIC
16g.20348525T>GCA394984536UMODc.776A>C (p.Asp259Ala)
c.875A>C (p.Asp292Ala)
c.923A>C (p.Asp308Ala)
c.860A>C (p.Asp287Ala)
n.1001A>C
16g.20348525_20348527delinsTCCCA2211942017UMODc.774_776delinsGGA (p.Trp258=)
c.873_875delinsGGA (p.Trp291=)
c.921_923delinsGGA (p.Trp307=)
c.858_860delinsGGA (p.Trp286=)
n.999_1001delinsGGA
16g.20348526C>ACA394984542UMODc.775G>T (p.Asp259Tyr)
c.874G>T (p.Asp292Tyr)
c.922G>T (p.Asp308Tyr)
c.859G>T (p.Asp287Tyr)
n.1000G>T
16g.20348526C=CA2211942021UMODc.775G= (p.Asp259=)
c.874G= (p.Asp292=)
c.922G= (p.Asp308=)
c.859G= (p.Asp287=)
n.1000G=
16g.20348526C>GCA394984541UMODc.775G>C (p.Asp259His)
c.874G>C (p.Asp292His)
c.922G>C (p.Asp308His)
c.859G>C (p.Asp287His)
n.1000G>C
16g.20348526C>TCA394984539UMODc.775G>A (p.Asp259Asn)
c.874G>A (p.Asp292Asn)
c.922G>A (p.Asp308Asn)
c.859G>A (p.Asp287Asn)
n.1000G>A
 dbSNP gnomAD v2
16g.20348527_20348528delCA7939409UMODc.774_775del (p.Trp258Ter)
c.873_874del (p.Trp291Ter)
c.921_922del (p.Trp307Ter)
c.858_859del (p.Trp286Ter)
n.999_1000del
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.20348527C>ACA394984544UMODc.774G>T (p.Trp258Cys)
c.873G>T (p.Trp291Cys)
c.921G>T (p.Trp307Cys)
c.858G>T (p.Trp286Cys)
n.999G>T
 gnomAD v4
16g.20348527C=CA2211942026UMODc.774G= (p.Trp258=)
c.873G= (p.Trp291=)
c.921G= (p.Trp307=)
c.858G= (p.Trp286=)
n.999G=
16g.20348527C>GCA394984546UMODc.774G>C (p.Trp258Cys)
c.873G>C (p.Trp291Cys)
c.921G>C (p.Trp307Cys)
c.858G>C (p.Trp286Cys)
n.999G>C
 ClinVar dbSNP
16g.20348527C>TCA394984548UMODc.774G>A (p.Trp258Ter)
c.873G>A (p.Trp291Ter)
c.921G>A (p.Trp307Ter)
c.858G>A (p.Trp286Ter)
n.999G>A
16g.20348528C>ACA394984550UMODc.773G>T (p.Trp258Leu)
c.872G>T (p.Trp291Leu)
c.920G>T (p.Trp307Leu)
c.857G>T (p.Trp286Leu)
n.998G>T
 gnomAD v4
16g.20348528C>GCA394984554UMODc.773G>C (p.Trp258Ser)
c.872G>C (p.Trp291Ser)
c.920G>C (p.Trp307Ser)
c.857G>C (p.Trp286Ser)
n.998G>C
16g.20348528C>TCA394984558UMODc.773G>A (p.Trp258Ter)
c.872G>A (p.Trp291Ter)
c.920G>A (p.Trp307Ter)
c.857G>A (p.Trp286Ter)
n.998G>A
 gnomAD v4
16g.20348529A>CCA394984559UMODc.772T>G (p.Trp258Gly)
c.871T>G (p.Trp291Gly)
c.919T>G (p.Trp307Gly)
c.856T>G (p.Trp286Gly)
n.997T>G
16g.20348529A>GCA394984562UMODc.772T>C (p.Trp258Arg)
c.871T>C (p.Trp291Arg)
c.919T>C (p.Trp307Arg)
c.856T>C (p.Trp286Arg)
n.997T>C
 gnomAD v4
16g.20348529A>TCA394984566UMODc.772T>A (p.Trp258Arg)
c.871T>A (p.Trp291Arg)
c.919T>A (p.Trp307Arg)
c.856T>A (p.Trp286Arg)
n.997T>A
16g.20348530C>ACA494097120UMODc.771G>T (p.Leu257=)
c.870G>T (p.Leu290=)
c.918G>T (p.Leu306=)
c.855G>T (p.Leu285=)
n.996G>T
16g.20348530C>GCA494097118UMODc.771G>C (p.Leu257=)
c.870G>C (p.Leu290=)
c.918G>C (p.Leu306=)
c.855G>C (p.Leu285=)
n.996G>C
16g.20348530C>TCA494097119UMODc.771G>A (p.Leu257=)
c.870G>A (p.Leu290=)
c.918G>A (p.Leu306=)
c.855G>A (p.Leu285=)
n.996G>A
 gnomAD v4
16g.20348531A>CCA394984570UMODc.770T>G (p.Leu257Arg)
c.869T>G (p.Leu290Arg)
c.917T>G (p.Leu306Arg)
c.854T>G (p.Leu285Arg)
n.995T>G
16g.20348531A>GCA394984572UMODc.770T>C (p.Leu257Pro)
c.869T>C (p.Leu290Pro)
c.917T>C (p.Leu306Pro)
c.854T>C (p.Leu285Pro)
n.995T>C
 gnomAD v4
16g.20348531A>TCA394984573UMODc.770T>A (p.Leu257Gln)
c.869T>A (p.Leu290Gln)
c.917T>A (p.Leu306Gln)
c.854T>A (p.Leu285Gln)
n.995T>A
 gnomAD v4
16g.20348531_20348541delinsAGGCAGCAGTGCA2211942031UMODc.760_770delinsCACTGCTGCCT (p.His254=)
c.859_869delinsCACTGCTGCCT (p.His287=)
c.907_917delinsCACTGCTGCCT (p.His303=)
c.844_854delinsCACTGCTGCCT (p.His282=)
n.985_995delinsCACTGCTGCCT
16g.20348532G>ACA494097124UMODc.769C>T (p.Leu257=)
c.868C>T (p.Leu290=)
c.916C>T (p.Leu306=)
c.853C>T (p.Leu285=)
n.994C>T
16g.20348532G>CCA394984576UMODc.769C>G (p.Leu257Val)
c.868C>G (p.Leu290Val)
c.916C>G (p.Leu306Val)
c.853C>G (p.Leu285Val)
n.994C>G
16g.20348532G>TCA394984577UMODc.769C>A (p.Leu257Met)
c.868C>A (p.Leu290Met)
c.916C>A (p.Leu306Met)
c.853C>A (p.Leu285Met)
n.994C>A
 gnomAD v4
16g.20348533_20348542delCA2211942036UMODc.760_769del (p.His254CysfsTer8)
c.859_868del (p.His287CysfsTer8)
c.907_916del (p.His303CysfsTer8)
c.844_853del (p.His282CysfsTer8)
n.985_994del
 dbSNP
16g.20348533G>ACA7939410UMODc.768C>T (p.Cys256=)
c.867C>T (p.Cys289=)
c.915C>T (p.Cys305=)
c.852C>T (p.Cys284=)
n.993C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.20348533G>CCA394984578UMODc.768C>G (p.Cys256Trp)
c.867C>G (p.Cys289Trp)
c.915C>G (p.Cys305Trp)
c.852C>G (p.Cys284Trp)
n.993C>G
 ClinVar dbSNP
16g.20348533G=CA2211942042UMODc.768C= (p.Cys256=)
c.867C= (p.Cys289=)
c.915C= (p.Cys305=)
c.852C= (p.Cys284=)
n.993C=
16g.20348533G>TCA394984579UMODc.768C>A (p.Cys256Ter)
c.867C>A (p.Cys289Ter)
c.915C>A (p.Cys305Ter)
c.852C>A (p.Cys284Ter)
n.993C>A
 gnomAD v4
16g.20348534C>ACA394984580UMODc.767G>T (p.Cys256Phe)
c.866G>T (p.Cys289Phe)
c.914G>T (p.Cys305Phe)
c.851G>T (p.Cys284Phe)
n.992G>T
16g.20348534C>GCA394984597UMODc.767G>C (p.Cys256Ser)
c.866G>C (p.Cys289Ser)
c.914G>C (p.Cys305Ser)
c.851G>C (p.Cys284Ser)
n.992G>C
 ClinVar
16g.20348534C>TCA394984602UMODc.767G>A (p.Cys256Tyr)
c.866G>A (p.Cys289Tyr)
c.914G>A (p.Cys305Tyr)
c.851G>A (p.Cys284Tyr)
n.992G>A
 gnomAD v4
16g.20348535A>CCA394984615UMODc.766T>G (p.Cys256Gly)
c.865T>G (p.Cys289Gly)
c.913T>G (p.Cys305Gly)
c.850T>G (p.Cys284Gly)
n.991T>G
16g.20348535A>GCA394984606UMODc.766T>C (p.Cys256Arg)
c.865T>C (p.Cys289Arg)
c.913T>C (p.Cys305Arg)
c.850T>C (p.Cys284Arg)
n.991T>C
16g.20348535A>TCA394984613UMODc.766T>A (p.Cys256Ser)
c.865T>A (p.Cys289Ser)
c.913T>A (p.Cys305Ser)
c.850T>A (p.Cys284Ser)
n.991T>A
16g.20348536G>ACA494097131UMODc.765C>T (p.Cys255=)
c.864C>T (p.Cys288=)
c.912C>T (p.Cys304=)
c.849C>T (p.Cys283=)
n.990C>T
16g.20348536G>CCA394984619UMODc.765C>G (p.Cys255Trp)
c.864C>G (p.Cys288Trp)
c.912C>G (p.Cys304Trp)
c.849C>G (p.Cys283Trp)
n.990C>G
16g.20348536G=CA2211942046UMODc.765C= (p.Cys255=)
c.864C= (p.Cys288=)
c.912C= (p.Cys304=)
c.849C= (p.Cys283=)
n.990C=
16g.20348536G>TCA394984621UMODc.765C>A (p.Cys255Ter)
c.864C>A (p.Cys288Ter)
c.912C>A (p.Cys304Ter)
c.849C>A (p.Cys283Ter)
n.990C>A
 dbSNP gnomAD v4
16g.20348537C>ACA394984622UMODc.764G>T (p.Cys255Phe)
c.863G>T (p.Cys288Phe)
c.911G>T (p.Cys304Phe)
c.848G>T (p.Cys283Phe)
n.989G>T
16g.20348537C=CA2211942050UMODc.764G= (p.Cys255=)
c.863G= (p.Cys288=)
c.911G= (p.Cys304=)
c.848G= (p.Cys283=)
n.989G=
16g.20348537C>GCA394984623UMODc.764G>C (p.Cys255Ser)
c.863G>C (p.Cys288Ser)
c.911G>C (p.Cys304Ser)
c.848G>C (p.Cys283Ser)
n.989G>C
16g.20348537C>TCA256250UMODc.764G>A (p.Cys255Tyr)
c.863G>A (p.Cys288Tyr)
c.911G>A (p.Cys304Tyr)
c.848G>A (p.Cys283Tyr)
n.989G>A
 ClinVar dbSNP gnomAD v4
16g.20348538A>CCA394984624UMODc.763T>G (p.Cys255Gly)
c.862T>G (p.Cys288Gly)
c.910T>G (p.Cys304Gly)
c.847T>G (p.Cys283Gly)
n.988T>G
16g.20348538A>GCA394984627UMODc.763T>C (p.Cys255Arg)
c.862T>C (p.Cys288Arg)
c.910T>C (p.Cys304Arg)
c.847T>C (p.Cys283Arg)
n.988T>C
16g.20348538A>TCA394984625UMODc.763T>A (p.Cys255Ser)
c.862T>A (p.Cys288Ser)
c.910T>A (p.Cys304Ser)
c.847T>A (p.Cys283Ser)
n.988T>A
16g.20348539G>ACA494097135UMODc.762C>T (p.His254=)
c.861C>T (p.His287=)
c.909C>T (p.His303=)
c.846C>T (p.His282=)
n.987C>T
16g.20348539G>CCA394984631UMODc.762C>G (p.His254Gln)
c.861C>G (p.His287Gln)
c.909C>G (p.His303Gln)
c.846C>G (p.His282Gln)
n.987C>G
16g.20348539G>TCA394984635UMODc.762C>A (p.His254Gln)
c.861C>A (p.His287Gln)
c.909C>A (p.His303Gln)
c.846C>A (p.His282Gln)
n.987C>A
 gnomAD v4
16g.20348540T>ACA394984637UMODc.761A>T (p.His254Leu)
c.860A>T (p.His287Leu)
c.908A>T (p.His303Leu)
c.845A>T (p.His282Leu)
n.986A>T
16g.20348540T>CCA394984646UMODc.761A>G (p.His254Arg)
c.860A>G (p.His287Arg)
c.908A>G (p.His303Arg)
c.845A>G (p.His282Arg)
n.986A>G
16g.20348540T>GCA394984650UMODc.761A>C (p.His254Pro)
c.860A>C (p.His287Pro)
c.908A>C (p.His303Pro)
c.845A>C (p.His282Pro)
n.986A>C
16g.20348541G>ACA394984654UMODc.760C>T (p.His254Tyr)
c.859C>T (p.His287Tyr)
c.907C>T (p.His303Tyr)
c.844C>T (p.His282Tyr)
n.985C>T
 gnomAD v4
16g.20348541G>CCA394984656UMODc.760C>G (p.His254Asp)
c.859C>G (p.His287Asp)
c.907C>G (p.His303Asp)
c.844C>G (p.His282Asp)
n.985C>G
16g.20348541G>TCA394984668UMODc.760C>A (p.His254Asn)
c.859C>A (p.His287Asn)
c.907C>A (p.His303Asn)
c.844C>A (p.His282Asn)
n.985C>A
 gnomAD v4
16g.20348542G>ACA494097139UMODc.759C>T (p.Gly253=)
c.858C>T (p.Gly286=)
c.906C>T (p.Gly302=)
c.843C>T (p.Gly281=)
n.984C>T
 dbSNP
16g.20348542G>CCA494097140UMODc.759C>G (p.Gly253=)
c.858C>G (p.Gly286=)
c.906C>G (p.Gly302=)
c.843C>G (p.Gly281=)
n.984C>G
16g.20348542G=CA2211942058UMODc.759C= (p.Gly253=)
c.858C= (p.Gly286=)
c.906C= (p.Gly302=)
c.843C= (p.Gly281=)
n.984C=
16g.20348542G>TCA494097141UMODc.759C>A (p.Gly253=)
c.858C>A (p.Gly286=)
c.906C>A (p.Gly302=)
c.843C>A (p.Gly281=)
n.984C>A
 gnomAD v4
16g.20348543C>ACA394984673UMODc.758G>T (p.Gly253Val)
c.857G>T (p.Gly286Val)
c.905G>T (p.Gly302Val)
c.842G>T (p.Gly281Val)
n.983G>T
16g.20348543C=CA2211942066UMODc.758G= (p.Gly253=)
c.857G= (p.Gly286=)
c.905G= (p.Gly302=)
c.842G= (p.Gly281=)
n.983G=
16g.20348543C>GCA394984677UMODc.758G>C (p.Gly253Ala)
c.857G>C (p.Gly286Ala)
c.905G>C (p.Gly302Ala)
c.842G>C (p.Gly281Ala)
n.983G>C
16g.20348543C>TCA7939411UMODc.758G>A (p.Gly253Asp)
c.857G>A (p.Gly286Asp)
c.905G>A (p.Gly302Asp)
c.842G>A (p.Gly281Asp)
n.983G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.20348544C>ACA394984685UMODc.757G>T (p.Gly253Cys)
c.856G>T (p.Gly286Cys)
c.904G>T (p.Gly302Cys)
c.841G>T (p.Gly281Cys)
n.982G>T
16g.20348544C=CA2211942072UMODc.757G= (p.Gly253=)
c.856G= (p.Gly286=)
c.904G= (p.Gly302=)
c.841G= (p.Gly281=)
n.982G=
16g.20348544C>GCA394984686UMODc.757G>C (p.Gly253Arg)
c.856G>C (p.Gly286Arg)
c.904G>C (p.Gly302Arg)
c.841G>C (p.Gly281Arg)
n.982G>C
16g.20348544C>TCA394984682UMODc.757G>A (p.Gly253Ser)
c.856G>A (p.Gly286Ser)
c.904G>A (p.Gly302Ser)
c.841G>A (p.Gly281Ser)
n.982G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.20348545G>ACA494097146UMODc.756C>T (p.Ser252=)
c.855C>T (p.Ser285=)
c.903C>T (p.Ser301=)
c.840C>T (p.Ser280=)
n.981C>T
 gnomAD v4
16g.20348545G>CCA394984690UMODc.756C>G (p.Ser252Arg)
c.855C>G (p.Ser285Arg)
c.903C>G (p.Ser301Arg)
c.840C>G (p.Ser280Arg)
n.981C>G
16g.20348545G>TCA394984688UMODc.756C>A (p.Ser252Arg)
c.855C>A (p.Ser285Arg)
c.903C>A (p.Ser301Arg)
c.840C>A (p.Ser280Arg)
n.981C>A
 gnomAD v4
16g.20348546C>ACA394984693UMODc.755G>T (p.Ser252Ile)
c.854G>T (p.Ser285Ile)
c.902G>T (p.Ser301Ile)
c.839G>T (p.Ser280Ile)
n.980G>T
16g.20348546C>GCA394984696UMODc.755G>C (p.Ser252Thr)
c.854G>C (p.Ser285Thr)
c.902G>C (p.Ser301Thr)
c.839G>C (p.Ser280Thr)
n.980G>C
16g.20348546C>TCA394984697UMODc.755G>A (p.Ser252Asn)
c.854G>A (p.Ser285Asn)
c.902G>A (p.Ser301Asn)
c.839G>A (p.Ser280Asn)
n.980G>A
16g.20348547T>ACA394984703UMODc.754A>T (p.Ser252Cys)
c.853A>T (p.Ser285Cys)
c.901A>T (p.Ser301Cys)
c.838A>T (p.Ser280Cys)
n.979A>T
16g.20348547T>CCA394984704UMODc.754A>G (p.Ser252Gly)
c.853A>G (p.Ser285Gly)
c.901A>G (p.Ser301Gly)
c.838A>G (p.Ser280Gly)
n.979A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.20348547T>GCA394984708UMODc.754A>C (p.Ser252Arg)
c.853A>C (p.Ser285Arg)
c.901A>C (p.Ser301Arg)
c.838A>C (p.Ser280Arg)
n.979A>C
16g.20348547T=CA2211942075UMODc.754A= (p.Ser252=)
c.853A= (p.Ser285=)
c.901A= (p.Ser301=)
c.838A= (p.Ser280=)
n.979A=
16g.20348548C>ACA394984712UMODc.753G>T (p.Trp251Cys)
c.852G>T (p.Trp284Cys)
c.900G>T (p.Trp300Cys)
c.837G>T (p.Trp279Cys)
n.978G>T
 gnomAD v4
16g.20348548C=CA2211942082UMODc.753G= (p.Trp251=)
c.852G= (p.Trp284=)
c.900G= (p.Trp300=)
c.837G= (p.Trp279=)
n.978G=
16g.20348548C>GCA394984714UMODc.753G>C (p.Trp251Cys)
c.852G>C (p.Trp284Cys)
c.900G>C (p.Trp300Cys)
c.837G>C (p.Trp279Cys)
n.978G>C
16g.20348548C>TCA394984717UMODc.753G>A (p.Trp251Ter)
c.852G>A (p.Trp284Ter)
c.900G>A (p.Trp300Ter)
c.837G>A (p.Trp279Ter)
n.978G>A
 dbSNP gnomAD v3 gnomAD v4
16g.20348548_20348549insAGTATTACACAACTGCTGAAATTTAGTAACCTTCTTTTCA621658550UMODc.752_753insAAAAGAAGGTTACTAAATTTCAGCAGTTGTGTAATACT (p.Trp251Ter)
c.851_852insAAAAGAAGGTTACTAAATTTCAGCAGTTGTGTAATACT (p.Trp284Ter)
c.899_900insAAAAGAAGGTTACTAAATTTCAGCAGTTGTGTAATACT (p.Trp300Ter)
c.836_837insAAAAGAAGGTTACTAAATTTCAGCAGTTGTGTAATACT (p.Trp279Ter)
n.977_978insAAAAGAAGGTTACTAAATTTCAGCAGTTGTGTAATACT
 dbSNP gnomAD v2
16g.20348549C>ACA394984725UMODc.752G>T (p.Trp251Leu)
c.851G>T (p.Trp284Leu)
c.899G>T (p.Trp300Leu)
c.836G>T (p.Trp279Leu)
n.977G>T
 gnomAD v4
16g.20348549C>GCA394984727UMODc.752G>C (p.Trp251Ser)
c.851G>C (p.Trp284Ser)
c.899G>C (p.Trp300Ser)
c.836G>C (p.Trp279Ser)
n.977G>C
16g.20348549C>TCA394984732UMODc.752G>A (p.Trp251Ter)
c.851G>A (p.Trp284Ter)
c.899G>A (p.Trp300Ter)
c.836G>A (p.Trp279Ter)
n.977G>A
 gnomAD v4
16g.20348550A>CCA394984739UMODc.751T>G (p.Trp251Gly)
c.850T>G (p.Trp284Gly)
c.898T>G (p.Trp300Gly)
c.835T>G (p.Trp279Gly)
n.976T>G
16g.20348550A>GCA394984745UMODc.751T>C (p.Trp251Arg)
c.850T>C (p.Trp284Arg)
c.898T>C (p.Trp300Arg)
c.835T>C (p.Trp279Arg)
n.976T>C
16g.20348550A>TCA394984742UMODc.751T>A (p.Trp251Arg)
c.850T>A (p.Trp284Arg)
c.898T>A (p.Trp300Arg)
c.835T>A (p.Trp279Arg)
n.976T>A
16g.20348551G>ACA494097153UMODc.750C>T (p.His250=)
c.849C>T (p.His283=)
c.897C>T (p.His299=)
c.834C>T (p.His278=)
n.975C>T
 gnomAD v4
16g.20348551G>CCA394984752UMODc.750C>G (p.His250Gln)
c.849C>G (p.His283Gln)
c.897C>G (p.His299Gln)
c.834C>G (p.His278Gln)
n.975C>G
16g.20348551G=CA2211942090UMODc.750C= (p.His250=)
c.849C= (p.His283=)
c.897C= (p.His299=)
c.834C= (p.His278=)
n.975C=
16g.20348551G>TCA394984753UMODc.750C>A (p.His250Gln)
c.849C>A (p.His283Gln)
c.897C>A (p.His299Gln)
c.834C>A (p.His278Gln)
n.975C>A
 dbSNP gnomAD v2 gnomAD v4
16g.20348552T>ACA394984755UMODc.749A>T (p.His250Leu)
c.848A>T (p.His283Leu)
c.896A>T (p.His299Leu)
c.833A>T (p.His278Leu)
n.974A>T
16g.20348552T>CCA394984757UMODc.749A>G (p.His250Arg)
c.848A>G (p.His283Arg)
c.896A>G (p.His299Arg)
c.833A>G (p.His278Arg)
n.974A>G
16g.20348552T>GCA394984769UMODc.749A>C (p.His250Pro)
c.848A>C (p.His283Pro)
c.896A>C (p.His299Pro)
c.833A>C (p.His278Pro)
n.974A>C
16g.20348553G>ACA394984773UMODc.748C>T (p.His250Tyr)
c.847C>T (p.His283Tyr)
c.895C>T (p.His299Tyr)
c.832C>T (p.His278Tyr)
n.973C>T
16g.20348553G>CCA394984775UMODc.748C>G (p.His250Asp)
c.847C>G (p.His283Asp)
c.895C>G (p.His299Asp)
c.832C>G (p.His278Asp)
n.973C>G
16g.20348553G>TCA394984779UMODc.748C>A (p.His250Asn)
c.847C>A (p.His283Asn)
c.895C>A (p.His299Asn)
c.832C>A (p.His278Asn)
n.973C>A
 gnomAD v4
16g.20348554C>ACA494097156UMODc.747G>T (p.Ala249=)
c.846G>T (p.Ala282=)
c.894G>T (p.Ala298=)
c.831G>T (p.Ala277=)
n.972G>T
 dbSNP gnomAD v4
16g.20348554C=CA2211942094UMODc.747G= (p.Ala249=)
c.846G= (p.Ala282=)
c.894G= (p.Ala298=)
c.831G= (p.Ala277=)
n.972G=
16g.20348554C>GCA494097157UMODc.747G>C (p.Ala249=)
c.846G>C (p.Ala282=)
c.894G>C (p.Ala298=)
c.831G>C (p.Ala277=)
n.972G>C
16g.20348554C>TCA494097158UMODc.747G>A (p.Ala249=)
c.846G>A (p.Ala282=)
c.894G>A (p.Ala298=)
c.831G>A (p.Ala277=)
n.972G>A
 gnomAD v4 COSMIC COSMIC
16g.20348555G>ACA7939412UMODc.746C>T (p.Ala249Val)
c.845C>T (p.Ala282Val)
c.893C>T (p.Ala298Val)
c.830C>T (p.Ala277Val)
n.971C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
16g.20348555G>CCA394984782UMODc.746C>G (p.Ala249Gly)
c.845C>G (p.Ala282Gly)
c.893C>G (p.Ala298Gly)
c.830C>G (p.Ala277Gly)
n.971C>G
16g.20348555G=CA2211942099UMODc.746C= (p.Ala249=)
c.845C= (p.Ala282=)
c.893C= (p.Ala298=)
c.830C= (p.Ala277=)
n.971C=
16g.20348555G>TCA394984784UMODc.746C>A (p.Ala249Glu)
c.845C>A (p.Ala282Glu)
c.893C>A (p.Ala298Glu)
c.830C>A (p.Ala277Glu)
n.971C>A
 gnomAD v4
16g.20348556C>ACA394984789UMODc.745G>T (p.Ala249Ser)
c.844G>T (p.Ala282Ser)
c.892G>T (p.Ala298Ser)
c.829G>T (p.Ala277Ser)
n.970G>T
 dbSNP gnomAD v3 gnomAD v4
16g.20348556C=CA2211942103UMODc.745G= (p.Ala249=)
c.844G= (p.Ala282=)
c.892G= (p.Ala298=)
c.829G= (p.Ala277=)
n.970G=
16g.20348556C>GCA394984794UMODc.745G>C (p.Ala249Pro)
c.844G>C (p.Ala282Pro)
c.892G>C (p.Ala298Pro)
c.829G>C (p.Ala277Pro)
n.970G>C
16g.20348556C>TCA394984787UMODc.745G>A (p.Ala249Thr)
c.844G>A (p.Ala282Thr)
c.892G>A (p.Ala298Thr)
c.829G>A (p.Ala277Thr)
n.970G>A
 gnomAD v4
16g.20348557G>ACA494097161UMODc.744C>T (p.Cys248=)
c.843C>T (p.Cys281=)
c.891C>T (p.Cys297=)
c.828C>T (p.Cys276=)
n.969C>T
 dbSNP gnomAD v4
16g.20348557G>CCA10605900UMODc.744C>G (p.Cys248Trp)
c.843C>G (p.Cys281Trp)
c.891C>G (p.Cys297Trp)
c.828C>G (p.Cys276Trp)
n.969C>G
 ClinVar dbSNP
16g.20348557G=CA2211942116UMODc.744C= (p.Cys248=)
c.843C= (p.Cys281=)
c.891C= (p.Cys297=)
c.828C= (p.Cys276=)
n.969C=
16g.20348557G>TCA394984801UMODc.744C>A (p.Cys248Ter)
c.843C>A (p.Cys281Ter)
c.891C>A (p.Cys297Ter)
c.828C>A (p.Cys276Ter)
n.969C>A
 dbSNP gnomAD v2 gnomAD v4
16g.20348558C>ACA394984803UMODc.743G>T (p.Cys248Phe)
c.842G>T (p.Cys281Phe)
c.890G>T (p.Cys297Phe)
c.827G>T (p.Cys276Phe)
n.968G>T
 gnomAD v4
16g.20348558C=CA2211942131UMODc.743G= (p.Cys248=)
c.842G= (p.Cys281=)
c.890G= (p.Cys297=)
c.827G= (p.Cys276=)
n.968G=
16g.20348558C>GCA264233UMODc.743G>C (p.Cys248Ser)
c.842G>C (p.Cys281Ser)
c.890G>C (p.Cys297Ser)
c.827G>C (p.Cys276Ser)
n.968G>C
 ClinVar dbSNP
16g.20348558C>TCA394984809UMODc.743G>A (p.Cys248Tyr)
c.842G>A (p.Cys281Tyr)
c.890G>A (p.Cys297Tyr)
c.827G>A (p.Cys276Tyr)
n.968G>A
 gnomAD v4
16g.20348559A=CA2211942136UMODc.742T= (p.Cys248=)
c.841T= (p.Cys281=)
c.889T= (p.Cys297=)
c.826T= (p.Cys276=)
n.967T=
16g.20348559A>CCA394984810UMODc.742T>G (p.Cys248Gly)
c.841T>G (p.Cys281Gly)
c.889T>G (p.Cys297Gly)
c.826T>G (p.Cys276Gly)
n.967T>G
16g.20348559A>GCA394984811UMODc.742T>C (p.Cys248Arg)
c.841T>C (p.Cys281Arg)
c.889T>C (p.Cys297Arg)
c.826T>C (p.Cys276Arg)
n.967T>C
 ClinVar dbSNP gnomAD v4
16g.20348559A>TCA394984812UMODc.742T>A (p.Cys248Ser)
c.841T>A (p.Cys281Ser)
c.889T>A (p.Cys297Ser)
c.826T>A (p.Cys276Ser)
n.967T>A
16g.20348560G>ACA494097164UMODc.741C>T (p.Ala247=)
c.840C>T (p.Ala280=)
c.888C>T (p.Ala296=)
c.825C>T (p.Ala275=)
n.966C>T
16g.20348560G>CCA494097165UMODc.741C>G (p.Ala247=)
c.840C>G (p.Ala280=)
c.888C>G (p.Ala296=)
c.825C>G (p.Ala275=)
n.966C>G
 ClinVar
16g.20348560G>TCA494097166UMODc.741C>A (p.Ala247=)
c.840C>A (p.Ala280=)
c.888C>A (p.Ala296=)
c.825C>A (p.Ala275=)
n.966C>A
 gnomAD v4
16g.20348561G>ACA394984813UMODc.740C>T (p.Ala247Val)
c.839C>T (p.Ala280Val)
c.887C>T (p.Ala296Val)
c.824C>T (p.Ala275Val)
n.965C>T
 dbSNP gnomAD v2 gnomAD v4
16g.20348561G>CCA394984814UMODc.740C>G (p.Ala247Gly)
c.839C>G (p.Ala280Gly)
c.887C>G (p.Ala296Gly)
c.824C>G (p.Ala275Gly)
n.965C>G
16g.20348561G=CA2211942139UMODc.740C= (p.Ala247=)
c.839C= (p.Ala280=)
c.887C= (p.Ala296=)
c.824C= (p.Ala275=)
n.965C=
16g.20348561G>TCA394984815UMODc.740C>A (p.Ala247Asp)
c.839C>A (p.Ala280Asp)
c.887C>A (p.Ala296Asp)
c.824C>A (p.Ala275Asp)
n.965C>A
 gnomAD v4
16g.20348562C>ACA394984817UMODc.739G>T (p.Ala247Ser)
c.838G>T (p.Ala280Ser)
c.886G>T (p.Ala296Ser)
c.823G>T (p.Ala275Ser)
n.964G>T
 gnomAD v4
16g.20348562C>GCA394984820UMODc.739G>C (p.Ala247Pro)
c.838G>C (p.Ala280Pro)
c.886G>C (p.Ala296Pro)
c.823G>C (p.Ala275Pro)
n.964G>C
16g.20348562C>TCA394984821UMODc.739G>A (p.Ala247Thr)
c.838G>A (p.Ala280Thr)
c.886G>A (p.Ala296Thr)
c.823G>A (p.Ala275Thr)
n.964G>A
 gnomAD v4
16g.20348563C>ACA394984828UMODc.738G>T (p.Lys246Asn)
c.837G>T (p.Lys279Asn)
c.885G>T (p.Lys295Asn)
c.822G>T (p.Lys274Asn)
n.963G>T
16g.20348563C>GCA394984826UMODc.738G>C (p.Lys246Asn)
c.837G>C (p.Lys279Asn)
c.885G>C (p.Lys295Asn)
c.822G>C (p.Lys274Asn)
n.963G>C
16g.20348563C>TCA494097174UMODc.738G>A (p.Lys246=)
c.837G>A (p.Lys279=)
c.885G>A (p.Lys295=)
c.822G>A (p.Lys274=)
n.963G>A
 gnomAD v4
16g.20348564T>ACA394984833UMODc.737A>T (p.Lys246Met)
c.836A>T (p.Lys279Met)
c.884A>T (p.Lys295Met)
c.821A>T (p.Lys274Met)
n.962A>T
16g.20348564T>CCA394984837UMODc.737A>G (p.Lys246Arg)
c.836A>G (p.Lys279Arg)
c.884A>G (p.Lys295Arg)
c.821A>G (p.Lys274Arg)
n.962A>G
 dbSNP gnomAD v2 gnomAD v4
16g.20348564T>GCA394984839UMODc.737A>C (p.Lys246Thr)
c.836A>C (p.Lys279Thr)
c.884A>C (p.Lys295Thr)
c.821A>C (p.Lys274Thr)
n.962A>C
16g.20348564T=CA2211942142UMODc.737A= (p.Lys246=)
c.836A= (p.Lys279=)
c.884A= (p.Lys295=)
c.821A= (p.Lys274=)
n.962A=
16g.20348565T>ACA394984841UMODc.736A>T (p.Lys246Ter)
c.835A>T (p.Lys279Ter)
c.883A>T (p.Lys295Ter)
c.820A>T (p.Lys274Ter)
n.961A>T
16g.20348565T>CCA394984844UMODc.736A>G (p.Lys246Glu)
c.835A>G (p.Lys279Glu)
c.883A>G (p.Lys295Glu)
c.820A>G (p.Lys274Glu)
n.961A>G
 gnomAD v4
16g.20348565T>GCA394984846UMODc.736A>C (p.Lys246Gln)
c.835A>C (p.Lys279Gln)
c.883A>C (p.Lys295Gln)
c.820A>C (p.Lys274Gln)
n.961A>C
16g.20348568_20348579delCA2580090849UMODc.725_736del (p.Ile242_Arg245del)
c.824_835del (p.Ile275_Arg278del)
c.872_883del (p.Ile291_Arg294del)
c.809_820del (p.Ile270_Arg273del)
n.950_961del
 ClinVar
16g.20348566G>ACA494097180UMODc.735C>T (p.Arg245=)
c.834C>T (p.Arg278=)
c.882C>T (p.Arg294=)
c.819C>T (p.Arg273=)
n.960C>T
 gnomAD v4
16g.20348566G>CCA494097181UMODc.735C>G (p.Arg245=)
c.834C>G (p.Arg278=)
c.882C>G (p.Arg294=)
c.819C>G (p.Arg273=)
n.960C>G
16g.20348566G>TCA494097183UMODc.735C>A (p.Arg245=)
c.834C>A (p.Arg278=)
c.882C>A (p.Arg294=)
c.819C>A (p.Arg273=)
n.960C>A
 gnomAD v4
16g.20348567C>ACA394984851UMODc.734G>T (p.Arg245Leu)
c.833G>T (p.Arg278Leu)
c.881G>T (p.Arg294Leu)
c.818G>T (p.Arg273Leu)
n.959G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.20348567C=CA2211942146UMODc.734G= (p.Arg245=)
c.833G= (p.Arg278=)
c.881G= (p.Arg294=)
c.818G= (p.Arg273=)
n.959G=
16g.20348567C>GCA394984849UMODc.734G>C (p.Arg245Pro)
c.833G>C (p.Arg278Pro)
c.881G>C (p.Arg294Pro)
c.818G>C (p.Arg273Pro)
n.959G>C
16g.20348567C>TCA7939413UMODc.734G>A (p.Arg245His)
c.833G>A (p.Arg278His)
c.881G>A (p.Arg294His)
c.818G>A (p.Arg273His)
n.959G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.20348568G>ACA394984855UMODc.733C>T (p.Arg245Cys)
c.832C>T (p.Arg278Cys)
c.880C>T (p.Arg294Cys)
c.817C>T (p.Arg273Cys)
n.958C>T
 dbSNP gnomAD v2
16g.20348568G>CCA394984866UMODc.733C>G (p.Arg245Gly)
c.832C>G (p.Arg278Gly)
c.880C>G (p.Arg294Gly)
c.817C>G (p.Arg273Gly)
n.958C>G
16g.20348568G=CA2211942149UMODc.733C= (p.Arg245=)
c.832C= (p.Arg278=)
c.880C= (p.Arg294=)
c.817C= (p.Arg273=)
n.958C=
16g.20348568G>TCA394984867UMODc.733C>A (p.Arg245Ser)
c.832C>A (p.Arg278Ser)
c.880C>A (p.Arg294Ser)
c.817C>A (p.Arg273Ser)
n.958C>A
 gnomAD v4
16g.20348569G>ACA494097186UMODc.732C>T (p.Ser244=)
c.831C>T (p.Ser277=)
c.879C>T (p.Ser293=)
c.816C>T (p.Ser272=)
n.957C>T
 gnomAD v4
16g.20348569G>CCA394984871UMODc.732C>G (p.Ser244Arg)
c.831C>G (p.Ser277Arg)
c.879C>G (p.Ser293Arg)
c.816C>G (p.Ser272Arg)
n.957C>G
 dbSNP gnomAD v3 gnomAD v4
16g.20348569G=CA2211942152UMODc.732C= (p.Ser244=)
c.831C= (p.Ser277=)
c.879C= (p.Ser293=)
c.816C= (p.Ser272=)
n.957C=
16g.20348569G>TCA394984873UMODc.732C>A (p.Ser244Arg)
c.831C>A (p.Ser277Arg)
c.879C>A (p.Ser293Arg)
c.816C>A (p.Ser272Arg)
n.957C>A
 gnomAD v4
16g.20348570C>ACA394984876UMODc.731G>T (p.Ser244Ile)
c.830G>T (p.Ser277Ile)
c.878G>T (p.Ser293Ile)
c.815G>T (p.Ser272Ile)
n.956G>T
 gnomAD v4
16g.20348570C>GCA394984875UMODc.731G>C (p.Ser244Thr)
c.830G>C (p.Ser277Thr)
c.878G>C (p.Ser293Thr)
c.815G>C (p.Ser272Thr)
n.956G>C
16g.20348570C>TCA394984874UMODc.731G>A (p.Ser244Asn)
c.830G>A (p.Ser277Asn)
c.878G>A (p.Ser293Asn)
c.815G>A (p.Ser272Asn)
n.956G>A
 gnomAD v4
16g.20348571T>ACA394984877UMODc.730A>T (p.Ser244Cys)
c.829A>T (p.Ser277Cys)
c.877A>T (p.Ser293Cys)
c.814A>T (p.Ser272Cys)
n.955A>T
16g.20348571T>CCA394984880UMODc.730A>G (p.Ser244Gly)
c.829A>G (p.Ser277Gly)
c.877A>G (p.Ser293Gly)
c.814A>G (p.Ser272Gly)
n.955A>G
16g.20348571T>GCA394984878UMODc.730A>C (p.Ser244Arg)
c.829A>C (p.Ser277Arg)
c.877A>C (p.Ser293Arg)
c.814A>C (p.Ser272Arg)
n.955A>C
16g.20348572C>ACA494097192UMODc.729G>T (p.Val243=)
c.828G>T (p.Val276=)
c.876G>T (p.Val292=)
c.813G>T (p.Val271=)
n.954G>T
 gnomAD v4
16g.20348572C=CA2211942156UMODc.729G= (p.Val243=)
c.828G= (p.Val276=)
c.876G= (p.Val292=)
c.813G= (p.Val271=)
n.954G=
16g.20348572C>GCA494097190UMODc.729G>C (p.Val243=)
c.828G>C (p.Val276=)
c.876G>C (p.Val292=)
c.813G>C (p.Val271=)
n.954G>C
16g.20348572C>TCA494097189UMODc.729G>A (p.Val243=)
c.828G>A (p.Val276=)
c.876G>A (p.Val292=)
c.813G>A (p.Val271=)
n.954G>A
 dbSNP gnomAD v2

Number of alleles fetched