Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.71437856C>A | CA381702972 | DHCR7 | c.919G>T (p.Gly307Cys) c.745G>T (p.Gly249Cys) c.970G>T (p.Gly324Cys) c.955G>T (p.Gly319Cys) n.959G>T c.334G>T (p.Gly112Cys) c.823G>T (p.Gly275Cys) c.286G>T (p.Gly96Cys) c.169G>T (p.Gly57Cys) c.275G>T | gnomAD v4 |
11 | g.71437856C>G | CA381702973 | DHCR7 | c.919G>C (p.Gly307Arg) c.745G>C (p.Gly249Arg) c.970G>C (p.Gly324Arg) c.955G>C (p.Gly319Arg) n.959G>C c.334G>C (p.Gly112Arg) c.823G>C (p.Gly275Arg) c.286G>C (p.Gly96Arg) c.169G>C (p.Gly57Arg) c.275G>C | |
11 | g.71437856C>T | CA381702974 | DHCR7 | c.919G>A (p.Gly307Ser) c.745G>A (p.Gly249Ser) c.970G>A (p.Gly324Ser) c.955G>A (p.Gly319Ser) n.959G>A c.334G>A (p.Gly112Ser) c.823G>A (p.Gly275Ser) c.286G>A (p.Gly96Ser) c.169G>A (p.Gly57Ser) c.275G>A | |
11 | g.71437857C>A | CA475567384 | DHCR7 | c.918G>T (p.Leu306=) c.744G>T (p.Leu248=) c.969G>T (p.Leu323=) c.954G>T (p.Leu318=) n.958G>T c.333G>T (p.Leu111=) c.822G>T (p.Leu274=) c.285G>T (p.Leu95=) c.168G>T (p.Leu56=) c.274G>T | |
11 | g.71437857C>G | CA475567390 | DHCR7 | c.918G>C (p.Leu306=) c.744G>C (p.Leu248=) c.969G>C (p.Leu323=) c.954G>C (p.Leu318=) n.958G>C c.333G>C (p.Leu111=) c.822G>C (p.Leu274=) c.285G>C (p.Leu95=) c.168G>C (p.Leu56=) c.274G>C | gnomAD v4 |
11 | g.71437857C>T | CA475567387 | DHCR7 | c.918G>A (p.Leu306=) c.744G>A (p.Leu248=) c.969G>A (p.Leu323=) c.954G>A (p.Leu318=) n.958G>A c.333G>A (p.Leu111=) c.822G>A (p.Leu274=) c.285G>A (p.Leu95=) c.168G>A (p.Leu56=) c.274G>A | |
11 | g.71437858A>C | CA381702975 | DHCR7 | c.917T>G (p.Leu306Arg) c.743T>G (p.Leu248Arg) c.968T>G (p.Leu323Arg) c.953T>G (p.Leu318Arg) n.957T>G c.332T>G (p.Leu111Arg) c.821T>G (p.Leu274Arg) c.284T>G (p.Leu95Arg) c.167T>G (p.Leu56Arg) c.273T>G | |
11 | g.71437858A>G | CA381702976 | DHCR7 | c.917T>C (p.Leu306Pro) c.743T>C (p.Leu248Pro) c.968T>C (p.Leu323Pro) c.953T>C (p.Leu318Pro) n.957T>C c.332T>C (p.Leu111Pro) c.821T>C (p.Leu274Pro) c.284T>C (p.Leu95Pro) c.167T>C (p.Leu56Pro) c.273T>C | |
11 | g.71437858A>T | CA381702977 | DHCR7 | c.917T>A (p.Leu306Gln) c.743T>A (p.Leu248Gln) c.968T>A (p.Leu323Gln) c.953T>A (p.Leu318Gln) n.957T>A c.332T>A (p.Leu111Gln) c.821T>A (p.Leu274Gln) c.284T>A (p.Leu95Gln) c.167T>A (p.Leu56Gln) c.273T>A | |
11 | g.71437859G>A | CA475567396 | DHCR7 | c.916C>T (p.Leu306=) c.742C>T (p.Leu248=) c.967C>T (p.Leu323=) c.952C>T (p.Leu318=) n.956C>T c.331C>T (p.Leu111=) c.820C>T (p.Leu274=) c.283C>T (p.Leu95=) c.166C>T (p.Leu56=) c.272C>T | |
11 | g.71437859G>C | CA381702978 | DHCR7 | c.916C>G (p.Leu306Val) c.742C>G (p.Leu248Val) c.967C>G (p.Leu323Val) c.952C>G (p.Leu318Val) n.956C>G c.331C>G (p.Leu111Val) c.820C>G (p.Leu274Val) c.283C>G (p.Leu95Val) c.166C>G (p.Leu56Val) c.272C>G | |
11 | g.71437859G>T | CA381702979 | DHCR7 | c.916C>A (p.Leu306Met) c.742C>A (p.Leu248Met) c.967C>A (p.Leu323Met) c.952C>A (p.Leu318Met) n.956C>A c.331C>A (p.Leu111Met) c.820C>A (p.Leu274Met) c.283C>A (p.Leu95Met) c.166C>A (p.Leu56Met) c.272C>A | |
11 | g.71437860G>A | CA475567403 | DHCR7 | c.915C>T (p.Tyr305=) c.741C>T (p.Tyr247=) c.966C>T (p.Tyr322=) c.951C>T (p.Tyr317=) n.955C>T c.330C>T (p.Tyr110=) c.819C>T (p.Tyr273=) c.282C>T (p.Tyr94=) c.165C>T (p.Tyr55=) c.271C>T | ClinVar dbSNP gnomAD v4 |
11 | g.71437860G>C | CA381702981 | DHCR7 | c.915C>G (p.Tyr305Ter) c.741C>G (p.Tyr247Ter) c.966C>G (p.Tyr322Ter) c.951C>G (p.Tyr317Ter) n.955C>G c.330C>G (p.Tyr110Ter) c.819C>G (p.Tyr273Ter) c.282C>G (p.Tyr94Ter) c.165C>G (p.Tyr55Ter) c.271C>G | ClinVar dbSNP |
11 | g.71437860G= | CA1981488021 | DHCR7 | c.915C= (p.Tyr305=) c.741C= (p.Tyr247=) c.966C= (p.Tyr322=) c.951C= (p.Tyr317=) n.955C= c.330C= (p.Tyr110=) c.819C= (p.Tyr273=) c.282C= (p.Tyr94=) c.165C= (p.Tyr55=) c.271C= | |
11 | g.71437860G>T | CA381702980 | DHCR7 | c.915C>A (p.Tyr305Ter) c.741C>A (p.Tyr247Ter) c.966C>A (p.Tyr322Ter) c.951C>A (p.Tyr317Ter) n.955C>A c.330C>A (p.Tyr110Ter) c.819C>A (p.Tyr273Ter) c.282C>A (p.Tyr94Ter) c.165C>A (p.Tyr55Ter) c.271C>A | |
11 | g.71437861T>A | CA381702982 | DHCR7 | c.914A>T (p.Tyr305Phe) c.740A>T (p.Tyr247Phe) c.965A>T (p.Tyr322Phe) c.950A>T (p.Tyr317Phe) n.954A>T c.329A>T (p.Tyr110Phe) c.818A>T (p.Tyr273Phe) c.281A>T (p.Tyr94Phe) c.164A>T (p.Tyr55Phe) c.270A>T | |
11 | g.71437861T>C | CA381702983 | DHCR7 | c.914A>G (p.Tyr305Cys) c.740A>G (p.Tyr247Cys) c.965A>G (p.Tyr322Cys) c.950A>G (p.Tyr317Cys) n.954A>G c.329A>G (p.Tyr110Cys) c.818A>G (p.Tyr273Cys) c.281A>G (p.Tyr94Cys) c.164A>G (p.Tyr55Cys) c.270A>G | gnomAD v4 |
11 | g.71437861T>G | CA381702984 | DHCR7 | c.914A>C (p.Tyr305Ser) c.740A>C (p.Tyr247Ser) c.965A>C (p.Tyr322Ser) c.950A>C (p.Tyr317Ser) n.954A>C c.329A>C (p.Tyr110Ser) c.818A>C (p.Tyr273Ser) c.281A>C (p.Tyr94Ser) c.164A>C (p.Tyr55Ser) c.270A>C | dbSNP |
11 | g.71437861T= | CA1981488022 | DHCR7 | c.914A= (p.Tyr305=) c.740A= (p.Tyr247=) c.965A= (p.Tyr322=) c.950A= (p.Tyr317=) n.954A= c.329A= (p.Tyr110=) c.818A= (p.Tyr273=) c.281A= (p.Tyr94=) c.164A= (p.Tyr55=) c.270A= | |
11 | g.71437862A>C | CA381702985 | DHCR7 | c.913T>G (p.Tyr305Asp) c.739T>G (p.Tyr247Asp) c.964T>G (p.Tyr322Asp) c.949T>G (p.Tyr317Asp) n.953T>G c.328T>G (p.Tyr110Asp) c.817T>G (p.Tyr273Asp) c.280T>G (p.Tyr94Asp) c.163T>G (p.Tyr55Asp) c.269T>G | |
11 | g.71437862A>G | CA381702986 | DHCR7 | c.913T>C (p.Tyr305His) c.739T>C (p.Tyr247His) c.964T>C (p.Tyr322His) c.949T>C (p.Tyr317His) n.953T>C c.328T>C (p.Tyr110His) c.817T>C (p.Tyr273His) c.280T>C (p.Tyr94His) c.163T>C (p.Tyr55His) c.269T>C | |
11 | g.71437862A>T | CA381702987 | DHCR7 | c.913T>A (p.Tyr305Asn) c.739T>A (p.Tyr247Asn) c.964T>A (p.Tyr322Asn) c.949T>A (p.Tyr317Asn) n.953T>A c.328T>A (p.Tyr110Asn) c.817T>A (p.Tyr273Asn) c.280T>A (p.Tyr94Asn) c.163T>A (p.Tyr55Asn) c.269T>A | |
11 | g.71437863C>A | CA381702988 | DHCR7 | c.912G>T (p.Trp304Cys) c.738G>T (p.Trp246Cys) c.963G>T (p.Trp321Cys) c.948G>T (p.Trp316Cys) n.952G>T c.327G>T (p.Trp109Cys) c.816G>T (p.Trp272Cys) c.279G>T (p.Trp93Cys) c.162G>T (p.Trp54Cys) c.268G>T | |
11 | g.71437863C>G | CA381702989 | DHCR7 | c.912G>C (p.Trp304Cys) c.738G>C (p.Trp246Cys) c.963G>C (p.Trp321Cys) c.948G>C (p.Trp316Cys) n.952G>C c.327G>C (p.Trp109Cys) c.816G>C (p.Trp272Cys) c.279G>C (p.Trp93Cys) c.162G>C (p.Trp54Cys) c.268G>C | |
11 | g.71437863C>T | CA381702990 | DHCR7 | c.912G>A (p.Trp304Ter) c.738G>A (p.Trp246Ter) c.963G>A (p.Trp321Ter) c.948G>A (p.Trp316Ter) n.952G>A c.327G>A (p.Trp109Ter) c.816G>A (p.Trp272Ter) c.279G>A (p.Trp93Ter) c.162G>A (p.Trp54Ter) c.268G>A | |
11 | g.71437864C>A | CA381702991 | DHCR7 | c.911G>T (p.Trp304Leu) c.737G>T (p.Trp246Leu) c.962G>T (p.Trp321Leu) c.947G>T (p.Trp316Leu) n.951G>T c.326G>T (p.Trp109Leu) c.815G>T (p.Trp272Leu) c.278G>T (p.Trp93Leu) c.161G>T (p.Trp54Leu) c.267G>T | |
11 | g.71437864C>G | CA381702992 | DHCR7 | c.911G>C (p.Trp304Ser) c.737G>C (p.Trp246Ser) c.962G>C (p.Trp321Ser) c.947G>C (p.Trp316Ser) n.951G>C c.326G>C (p.Trp109Ser) c.815G>C (p.Trp272Ser) c.278G>C (p.Trp93Ser) c.161G>C (p.Trp54Ser) c.267G>C | |
11 | g.71437864C>T | CA381702993 | DHCR7 | c.911G>A (p.Trp304Ter) c.737G>A (p.Trp246Ter) c.962G>A (p.Trp321Ter) c.947G>A (p.Trp316Ter) n.951G>A c.326G>A (p.Trp109Ter) c.815G>A (p.Trp272Ter) c.278G>A (p.Trp93Ter) c.161G>A (p.Trp54Ter) c.267G>A | ClinVar gnomAD v4 |
11 | g.71437865A>C | CA381702995 | DHCR7 | c.910T>G (p.Trp304Gly) c.736T>G (p.Trp246Gly) c.961T>G (p.Trp321Gly) c.946T>G (p.Trp316Gly) n.950T>G c.325T>G (p.Trp109Gly) c.814T>G (p.Trp272Gly) c.277T>G (p.Trp93Gly) c.160T>G (p.Trp54Gly) c.266T>G | |
11 | g.71437865A>G | CA381702996 | DHCR7 | c.910T>C (p.Trp304Arg) c.736T>C (p.Trp246Arg) c.961T>C (p.Trp321Arg) c.946T>C (p.Trp316Arg) n.950T>C c.325T>C (p.Trp109Arg) c.814T>C (p.Trp272Arg) c.277T>C (p.Trp93Arg) c.160T>C (p.Trp54Arg) c.266T>C | |
11 | g.71437865A>T | CA381702994 | DHCR7 | c.910T>A (p.Trp304Arg) c.736T>A (p.Trp246Arg) c.961T>A (p.Trp321Arg) c.946T>A (p.Trp316Arg) n.950T>A c.325T>A (p.Trp109Arg) c.814T>A (p.Trp272Arg) c.277T>A (p.Trp93Arg) c.160T>A (p.Trp54Arg) c.266T>A | |
11 | g.71437866C>A | CA475567441 | DHCR7 | c.909G>T (p.Gly303=) c.735G>T (p.Gly245=) c.960G>T (p.Gly320=) c.945G>T (p.Gly315=) n.949G>T c.324G>T (p.Gly108=) c.813G>T (p.Gly271=) c.276G>T (p.Gly92=) c.159G>T (p.Gly53=) c.265G>T | ClinVar dbSNP gnomAD v4 |
11 | g.71437866C>G | CA475567444 | DHCR7 | c.909G>C (p.Gly303=) c.735G>C (p.Gly245=) c.960G>C (p.Gly320=) c.945G>C (p.Gly315=) n.949G>C c.324G>C (p.Gly108=) c.813G>C (p.Gly271=) c.276G>C (p.Gly92=) c.159G>C (p.Gly53=) c.265G>C | |
11 | g.71437866C>T | CA475567447 | DHCR7 | c.909G>A (p.Gly303=) c.735G>A (p.Gly245=) c.960G>A (p.Gly320=) c.945G>A (p.Gly315=) n.949G>A c.324G>A (p.Gly108=) c.813G>A (p.Gly271=) c.276G>A (p.Gly92=) c.159G>A (p.Gly53=) c.265G>A | |
11 | g.71437867C>A | CA381702997 | DHCR7 | c.908G>T (p.Gly303Val) c.734G>T (p.Gly245Val) c.959G>T (p.Gly320Val) c.944G>T (p.Gly315Val) n.948G>T c.323G>T (p.Gly108Val) c.812G>T (p.Gly271Val) c.275G>T (p.Gly92Val) c.158G>T (p.Gly53Val) c.264G>T | |
11 | g.71437867C>G | CA381702998 | DHCR7 | c.908G>C (p.Gly303Ala) c.734G>C (p.Gly245Ala) c.959G>C (p.Gly320Ala) c.944G>C (p.Gly315Ala) n.948G>C c.323G>C (p.Gly108Ala) c.812G>C (p.Gly271Ala) c.275G>C (p.Gly92Ala) c.158G>C (p.Gly53Ala) c.264G>C | |
11 | g.71437867C>T | CA381702999 | DHCR7 | c.908G>A (p.Gly303Glu) c.734G>A (p.Gly245Glu) c.959G>A (p.Gly320Glu) c.944G>A (p.Gly315Glu) n.948G>A c.323G>A (p.Gly108Glu) c.812G>A (p.Gly271Glu) c.275G>A (p.Gly92Glu) c.158G>A (p.Gly53Glu) c.264G>A | ClinVar gnomAD v4 |
11 | g.71437868C>A | CA6162404 | DHCR7 | c.907G>T (p.Gly303Trp) c.733G>T (p.Gly245Trp) c.958G>T (p.Gly320Trp) c.943G>T (p.Gly315Trp) n.947G>T c.322G>T (p.Gly108Trp) c.811G>T (p.Gly271Trp) c.274G>T (p.Gly92Trp) c.157G>T (p.Gly53Trp) c.263G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.71437868C= | CA1981488023 | DHCR7 | c.907G= (p.Gly303=) c.733G= (p.Gly245=) c.958G= (p.Gly320=) c.943G= (p.Gly315=) n.947G= c.322G= (p.Gly108=) c.811G= (p.Gly271=) c.274G= (p.Gly92=) c.157G= (p.Gly53=) c.263G= | |
11 | g.71437868C>G | CA381703000 | DHCR7 | c.907G>C (p.Gly303Arg) c.733G>C (p.Gly245Arg) c.958G>C (p.Gly320Arg) c.943G>C (p.Gly315Arg) n.947G>C c.322G>C (p.Gly108Arg) c.811G>C (p.Gly271Arg) c.274G>C (p.Gly92Arg) c.157G>C (p.Gly53Arg) c.263G>C | ClinVar |
11 | g.71437868C>T | CA275430 | DHCR7 | c.907G>A (p.Gly303Arg) c.733G>A (p.Gly245Arg) c.958G>A (p.Gly320Arg) c.943G>A (p.Gly315Arg) n.947G>A c.322G>A (p.Gly108Arg) c.811G>A (p.Gly271Arg) c.274G>A (p.Gly92Arg) c.157G>A (p.Gly53Arg) c.263G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71437869G>A | CA247591 | DHCR7 | c.906C>T (p.Phe302=) c.732C>T (p.Phe244=) c.957C>T (p.Phe319=) c.942C>T (p.Phe314=) n.946C>T c.321C>T (p.Phe107=) c.810C>T (p.Phe270=) c.273C>T (p.Phe91=) c.156C>T (p.Phe52=) c.262C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
11 | g.71437869G>C | CA341833 | DHCR7 | c.906C>G (p.Phe302Leu) c.732C>G (p.Phe244Leu) c.957C>G (p.Phe319Leu) c.942C>G (p.Phe314Leu) n.946C>G c.321C>G (p.Phe107Leu) c.810C>G (p.Phe270Leu) c.273C>G (p.Phe91Leu) c.156C>G (p.Phe52Leu) c.262C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71437869G= | CA1981488024 | DHCR7 | c.906C= (p.Phe302=) c.732C= (p.Phe244=) c.957C= (p.Phe319=) c.942C= (p.Phe314=) n.946C= c.321C= (p.Phe107=) c.810C= (p.Phe270=) c.273C= (p.Phe91=) c.156C= (p.Phe52=) c.262C= | |
11 | g.71437869G>T | CA381703001 | DHCR7 | c.906C>A (p.Phe302Leu) c.732C>A (p.Phe244Leu) c.957C>A (p.Phe319Leu) c.942C>A (p.Phe314Leu) n.946C>A c.321C>A (p.Phe107Leu) c.810C>A (p.Phe270Leu) c.273C>A (p.Phe91Leu) c.156C>A (p.Phe52Leu) c.262C>A | dbSNP |
11 | g.71437870A>C | CA381703002 | DHCR7 | c.905T>G (p.Phe302Cys) c.731T>G (p.Phe244Cys) c.956T>G (p.Phe319Cys) c.941T>G (p.Phe314Cys) n.945T>G c.320T>G (p.Phe107Cys) c.809T>G (p.Phe270Cys) c.272T>G (p.Phe91Cys) c.155T>G (p.Phe52Cys) c.261T>G | |
11 | g.71437870A>G | CA381703003 | DHCR7 | c.905T>C (p.Phe302Ser) c.731T>C (p.Phe244Ser) c.956T>C (p.Phe319Ser) c.941T>C (p.Phe314Ser) n.945T>C c.320T>C (p.Phe107Ser) c.809T>C (p.Phe270Ser) c.272T>C (p.Phe91Ser) c.155T>C (p.Phe52Ser) c.261T>C | |
11 | g.71437870A>T | CA381703004 | DHCR7 | c.905T>A (p.Phe302Tyr) c.731T>A (p.Phe244Tyr) c.956T>A (p.Phe319Tyr) c.941T>A (p.Phe314Tyr) n.945T>A c.320T>A (p.Phe107Tyr) c.809T>A (p.Phe270Tyr) c.272T>A (p.Phe91Tyr) c.155T>A (p.Phe52Tyr) c.261T>A | |
11 | g.71437871A>C | CA381703006 | DHCR7 | c.904T>G (p.Phe302Val) c.730T>G (p.Phe244Val) c.955T>G (p.Phe319Val) c.940T>G (p.Phe314Val) n.944T>G c.319T>G (p.Phe107Val) c.808T>G (p.Phe270Val) c.271T>G (p.Phe91Val) c.154T>G (p.Phe52Val) c.260T>G | ClinVar |
11 | g.71437871A>G | CA381703007 | DHCR7 | c.904T>C (p.Phe302Leu) c.730T>C (p.Phe244Leu) c.955T>C (p.Phe319Leu) c.940T>C (p.Phe314Leu) n.944T>C c.319T>C (p.Phe107Leu) c.808T>C (p.Phe270Leu) c.271T>C (p.Phe91Leu) c.154T>C (p.Phe52Leu) c.260T>C | |
11 | g.71437871A>T | CA381703005 | DHCR7 | c.904T>A (p.Phe302Ile) c.730T>A (p.Phe244Ile) c.955T>A (p.Phe319Ile) c.940T>A (p.Phe314Ile) n.944T>A c.319T>A (p.Phe107Ile) c.808T>A (p.Phe270Ile) c.271T>A (p.Phe91Ile) c.154T>A (p.Phe52Ile) c.260T>A | |
11 | g.71437872G>A | CA475567483 | DHCR7 | c.903C>T (p.His301=) c.729C>T (p.His243=) c.954C>T (p.His318=) c.939C>T (p.His313=) n.943C>T c.318C>T (p.His106=) c.807C>T (p.His269=) c.270C>T (p.His90=) c.153C>T (p.His51=) c.259C>T | ClinVar dbSNP |
11 | g.71437872G>C | CA381703008 | DHCR7 | c.903C>G (p.His301Gln) c.729C>G (p.His243Gln) c.954C>G (p.His318Gln) c.939C>G (p.His313Gln) n.943C>G c.318C>G (p.His106Gln) c.807C>G (p.His269Gln) c.270C>G (p.His90Gln) c.153C>G (p.His51Gln) c.259C>G | |
11 | g.71437872G= | CA1981488025 | DHCR7 | c.903C= (p.His301=) c.729C= (p.His243=) c.954C= (p.His318=) c.939C= (p.His313=) n.943C= c.318C= (p.His106=) c.807C= (p.His269=) c.270C= (p.His90=) c.153C= (p.His51=) c.259C= | |
11 | g.71437872G>T | CA381703009 | DHCR7 | c.903C>A (p.His301Gln) c.729C>A (p.His243Gln) c.954C>A (p.His318Gln) c.939C>A (p.His313Gln) n.943C>A c.318C>A (p.His106Gln) c.807C>A (p.His269Gln) c.270C>A (p.His90Gln) c.153C>A (p.His51Gln) c.259C>A | dbSNP |
11 | g.71437873T>A | CA381703010 | DHCR7 | c.902A>T (p.His301Leu) c.728A>T (p.His243Leu) c.953A>T (p.His318Leu) c.938A>T (p.His313Leu) n.942A>T c.317A>T (p.His106Leu) c.806A>T (p.His269Leu) c.269A>T (p.His90Leu) c.152A>T (p.His51Leu) c.258A>T | |
11 | g.71437873T>C | CA381703011 | DHCR7 | c.902A>G (p.His301Arg) c.728A>G (p.His243Arg) c.953A>G (p.His318Arg) c.938A>G (p.His313Arg) n.942A>G c.317A>G (p.His106Arg) c.806A>G (p.His269Arg) c.269A>G (p.His90Arg) c.152A>G (p.His51Arg) c.258A>G | ClinVar dbSNP |
11 | g.71437873T>G | CA381703012 | DHCR7 | c.902A>C (p.His301Pro) c.728A>C (p.His243Pro) c.953A>C (p.His318Pro) c.938A>C (p.His313Pro) n.942A>C c.317A>C (p.His106Pro) c.806A>C (p.His269Pro) c.269A>C (p.His90Pro) c.152A>C (p.His51Pro) c.258A>C | |
11 | g.71437873T= | CA1981488026 | DHCR7 | c.902A= (p.His301=) c.728A= (p.His243=) c.953A= (p.His318=) c.938A= (p.His313=) n.942A= c.317A= (p.His106=) c.806A= (p.His269=) c.269A= (p.His90=) c.152A= (p.His51=) c.258A= | |
11 | g.71437874G>A | CA381703015 | DHCR7 | c.901C>T (p.His301Tyr) c.727C>T (p.His243Tyr) c.952C>T (p.His318Tyr) c.937C>T (p.His313Tyr) n.941C>T c.316C>T (p.His106Tyr) c.805C>T (p.His269Tyr) c.268C>T (p.His90Tyr) c.151C>T (p.His51Tyr) c.257C>T | |
11 | g.71437874G>C | CA381703013 | DHCR7 | c.901C>G (p.His301Asp) c.727C>G (p.His243Asp) c.952C>G (p.His318Asp) c.937C>G (p.His313Asp) n.941C>G c.316C>G (p.His106Asp) c.805C>G (p.His269Asp) c.268C>G (p.His90Asp) c.151C>G (p.His51Asp) c.257C>G | |
11 | g.71437874G= | CA1981488027 | DHCR7 | c.901C= (p.His301=) c.727C= (p.His243=) c.952C= (p.His318=) c.937C= (p.His313=) n.941C= c.316C= (p.His106=) c.805C= (p.His269=) c.268C= (p.His90=) c.151C= (p.His51=) c.257C= | |
11 | g.71437874G>T | CA381703014 | DHCR7 | c.901C>A (p.His301Asn) c.727C>A (p.His243Asn) c.952C>A (p.His318Asn) c.937C>A (p.His313Asn) n.941C>A c.316C>A (p.His106Asn) c.805C>A (p.His269Asn) c.268C>A (p.His90Asn) c.151C>A (p.His51Asn) c.257C>A | ClinVar dbSNP gnomAD v4 |
11 | g.71437875G>A | CA475567498 | DHCR7 | c.900C>T (p.Asp300=) c.726C>T (p.Asp242=) c.951C>T (p.Asp317=) c.936C>T (p.Asp312=) n.940C>T c.315C>T (p.Asp105=) c.804C>T (p.Asp268=) c.267C>T (p.Asp89=) c.150C>T (p.Asp50=) c.256C>T | |
11 | g.71437875G>C | CA381703016 | DHCR7 | c.900C>G (p.Asp300Glu) c.726C>G (p.Asp242Glu) c.951C>G (p.Asp317Glu) c.936C>G (p.Asp312Glu) n.940C>G c.315C>G (p.Asp105Glu) c.804C>G (p.Asp268Glu) c.267C>G (p.Asp89Glu) c.150C>G (p.Asp50Glu) c.256C>G | |
11 | g.71437875G>T | CA381703017 | DHCR7 | c.900C>A (p.Asp300Glu) c.726C>A (p.Asp242Glu) c.951C>A (p.Asp317Glu) c.936C>A (p.Asp312Glu) n.940C>A c.315C>A (p.Asp105Glu) c.804C>A (p.Asp268Glu) c.267C>A (p.Asp89Glu) c.150C>A (p.Asp50Glu) c.256C>A | |
11 | g.71437876T>A | CA381703018 | DHCR7 | c.899A>T (p.Asp300Val) c.725A>T (p.Asp242Val) c.950A>T (p.Asp317Val) c.935A>T (p.Asp312Val) n.939A>T c.314A>T (p.Asp105Val) c.803A>T (p.Asp268Val) c.266A>T (p.Asp89Val) c.149A>T (p.Asp50Val) c.255A>T | |
11 | g.71437876T>C | CA381703019 | DHCR7 | c.899A>G (p.Asp300Gly) c.725A>G (p.Asp242Gly) c.950A>G (p.Asp317Gly) c.935A>G (p.Asp312Gly) n.939A>G c.314A>G (p.Asp105Gly) c.803A>G (p.Asp268Gly) c.266A>G (p.Asp89Gly) c.149A>G (p.Asp50Gly) c.255A>G | |
11 | g.71437876T>G | CA381703020 | DHCR7 | c.899A>C (p.Asp300Ala) c.725A>C (p.Asp242Ala) c.950A>C (p.Asp317Ala) c.935A>C (p.Asp312Ala) n.939A>C c.314A>C (p.Asp105Ala) c.803A>C (p.Asp268Ala) c.266A>C (p.Asp89Ala) c.149A>C (p.Asp50Ala) c.255A>C | |
11 | g.71437877C>A | CA381703021 | DHCR7 | c.898G>T (p.Asp300Tyr) c.724G>T (p.Asp242Tyr) c.949G>T (p.Asp317Tyr) c.934G>T (p.Asp312Tyr) n.938G>T c.313G>T (p.Asp105Tyr) c.802G>T (p.Asp268Tyr) c.265G>T (p.Asp89Tyr) c.148G>T (p.Asp50Tyr) c.254G>T | |
11 | g.71437877C= | CA1981488028 | DHCR7 | c.898G= (p.Asp300=) c.724G= (p.Asp242=) c.949G= (p.Asp317=) c.934G= (p.Asp312=) n.938G= c.313G= (p.Asp105=) c.802G= (p.Asp268=) c.265G= (p.Asp89=) c.148G= (p.Asp50=) c.254G= | |
11 | g.71437877C>G | CA381703023 | DHCR7 | c.898G>C (p.Asp300His) c.724G>C (p.Asp242His) c.949G>C (p.Asp317His) c.934G>C (p.Asp312His) n.938G>C c.313G>C (p.Asp105His) c.802G>C (p.Asp268His) c.265G>C (p.Asp89His) c.148G>C (p.Asp50His) c.254G>C | |
11 | g.71437877C>T | CA381703022 | DHCR7 | c.898G>A (p.Asp300Asn) c.724G>A (p.Asp242Asn) c.949G>A (p.Asp317Asn) c.934G>A (p.Asp312Asn) n.938G>A c.313G>A (p.Asp105Asn) c.802G>A (p.Asp268Asn) c.265G>A (p.Asp89Asn) c.148G>A (p.Asp50Asn) c.254G>A | ClinVar dbSNP gnomAD v4 |
11 | g.71437878A>C | CA381703024 | DHCR7 | c.897T>G (p.His299Gln) c.723T>G (p.His241Gln) c.948T>G (p.His316Gln) c.933T>G (p.His311Gln) n.937T>G c.312T>G (p.His104Gln) c.801T>G (p.His267Gln) c.264T>G (p.His88Gln) c.147T>G (p.His49Gln) c.253T>G | |
11 | g.71437878A>G | CA475567518 | DHCR7 | c.897T>C (p.His299=) c.723T>C (p.His241=) c.948T>C (p.His316=) c.933T>C (p.His311=) n.937T>C c.312T>C (p.His104=) c.801T>C (p.His267=) c.264T>C (p.His88=) c.147T>C (p.His49=) c.253T>C | gnomAD v4 |
11 | g.71437878A>T | CA381703025 | DHCR7 | c.897T>A (p.His299Gln) c.723T>A (p.His241Gln) c.948T>A (p.His316Gln) c.933T>A (p.His311Gln) n.937T>A c.312T>A (p.His104Gln) c.801T>A (p.His267Gln) c.264T>A (p.His88Gln) c.147T>A (p.His49Gln) c.253T>A | |
11 | g.71437879T>A | CA381703026 | DHCR7 | c.896A>T (p.His299Leu) c.722A>T (p.His241Leu) c.947A>T (p.His316Leu) c.932A>T (p.His311Leu) n.936A>T c.311A>T (p.His104Leu) c.800A>T (p.His267Leu) c.263A>T (p.His88Leu) c.146A>T (p.His49Leu) c.252A>T | |
11 | g.71437879T>C | CA381703028 | DHCR7 | c.896A>G (p.His299Arg) c.722A>G (p.His241Arg) c.947A>G (p.His316Arg) c.932A>G (p.His311Arg) n.936A>G c.311A>G (p.His104Arg) c.800A>G (p.His267Arg) c.263A>G (p.His88Arg) c.146A>G (p.His49Arg) c.252A>G | dbSNP gnomAD v2 gnomAD v4 |
11 | g.71437879T>G | CA381703027 | DHCR7 | c.896A>C (p.His299Pro) c.722A>C (p.His241Pro) c.947A>C (p.His316Pro) c.932A>C (p.His311Pro) n.936A>C c.311A>C (p.His104Pro) c.800A>C (p.His267Pro) c.263A>C (p.His88Pro) c.146A>C (p.His49Pro) c.252A>C | |
11 | g.71437879T= | CA1981488029 | DHCR7 | c.896A= (p.His299=) c.722A= (p.His241=) c.947A= (p.His316=) c.932A= (p.His311=) n.936A= c.311A= (p.His104=) c.800A= (p.His267=) c.263A= (p.His88=) c.146A= (p.His49=) c.252A= | |
11 | g.71437880G>A | CA6162405 | DHCR7 | c.895C>T (p.His299Tyr) c.721C>T (p.His241Tyr) c.946C>T (p.His316Tyr) c.931C>T (p.His311Tyr) n.935C>T c.310C>T (p.His104Tyr) c.799C>T (p.His267Tyr) c.262C>T (p.His88Tyr) c.145C>T (p.His49Tyr) c.251C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.71437880G>C | CA381703030 | DHCR7 | c.895C>G (p.His299Asp) c.721C>G (p.His241Asp) c.946C>G (p.His316Asp) c.931C>G (p.His311Asp) n.935C>G c.310C>G (p.His104Asp) c.799C>G (p.His267Asp) c.262C>G (p.His88Asp) c.145C>G (p.His49Asp) c.251C>G | |
11 | g.71437880G= | CA1981488030 | DHCR7 | c.895C= (p.His299=) c.721C= (p.His241=) c.946C= (p.His316=) c.931C= (p.His311=) n.935C= c.310C= (p.His104=) c.799C= (p.His267=) c.262C= (p.His88=) c.145C= (p.His49=) c.251C= | |
11 | g.71437880G>T | CA381703029 | DHCR7 | c.895C>A (p.His299Asn) c.721C>A (p.His241Asn) c.946C>A (p.His316Asn) c.931C>A (p.His311Asn) n.935C>A c.310C>A (p.His104Asn) c.799C>A (p.His267Asn) c.262C>A (p.His88Asn) c.145C>A (p.His49Asn) c.251C>A | |
11 | g.71437881G>A | CA6162406 | DHCR7 | c.894C>T (p.Cys298=) c.720C>T (p.Cys240=) c.945C>T (p.Cys315=) c.930C>T (p.Cys310=) n.934C>T c.309C>T (p.Cys103=) c.798C>T (p.Cys266=) c.261C>T (p.Cys87=) c.144C>T (p.Cys48=) c.250C>T | dbSNP ExAC gnomAD v2 |
11 | g.71437881G>C | CA381703031 | DHCR7 | c.894C>G (p.Cys298Trp) c.720C>G (p.Cys240Trp) c.945C>G (p.Cys315Trp) c.930C>G (p.Cys310Trp) n.934C>G c.309C>G (p.Cys103Trp) c.798C>G (p.Cys266Trp) c.261C>G (p.Cys87Trp) c.144C>G (p.Cys48Trp) c.250C>G | |
11 | g.71437881G= | CA1981488031 | DHCR7 | c.894C= (p.Cys298=) c.720C= (p.Cys240=) c.945C= (p.Cys315=) c.930C= (p.Cys310=) n.934C= c.309C= (p.Cys103=) c.798C= (p.Cys266=) c.261C= (p.Cys87=) c.144C= (p.Cys48=) c.250C= | |
11 | g.71437881G>T | CA381703032 | DHCR7 | c.894C>A (p.Cys298Ter) c.720C>A (p.Cys240Ter) c.945C>A (p.Cys315Ter) c.930C>A (p.Cys310Ter) n.934C>A c.309C>A (p.Cys103Ter) c.798C>A (p.Cys266Ter) c.261C>A (p.Cys87Ter) c.144C>A (p.Cys48Ter) c.250C>A | ClinVar dbSNP |
11 | g.71437882C>A | CA381703033 | DHCR7 | c.893G>T (p.Cys298Phe) c.719G>T (p.Cys240Phe) c.944G>T (p.Cys315Phe) c.929G>T (p.Cys310Phe) n.933G>T c.308G>T (p.Cys103Phe) c.797G>T (p.Cys266Phe) c.260G>T (p.Cys87Phe) c.143G>T (p.Cys48Phe) c.249G>T | |
11 | g.71437882C>G | CA381703034 | DHCR7 | c.893G>C (p.Cys298Ser) c.719G>C (p.Cys240Ser) c.944G>C (p.Cys315Ser) c.929G>C (p.Cys310Ser) n.933G>C c.308G>C (p.Cys103Ser) c.797G>C (p.Cys266Ser) c.260G>C (p.Cys87Ser) c.143G>C (p.Cys48Ser) c.249G>C | |
11 | g.71437882C>T | CA381703035 | DHCR7 | c.893G>A (p.Cys298Tyr) c.719G>A (p.Cys240Tyr) c.944G>A (p.Cys315Tyr) c.929G>A (p.Cys310Tyr) n.933G>A c.308G>A (p.Cys103Tyr) c.797G>A (p.Cys266Tyr) c.260G>A (p.Cys87Tyr) c.143G>A (p.Cys48Tyr) c.249G>A | |
11 | g.71437883A>C | CA381703036 | DHCR7 | c.892T>G (p.Cys298Gly) c.718T>G (p.Cys240Gly) c.943T>G (p.Cys315Gly) c.928T>G (p.Cys310Gly) n.932T>G c.307T>G (p.Cys103Gly) c.796T>G (p.Cys266Gly) c.259T>G (p.Cys87Gly) c.142T>G (p.Cys48Gly) c.248T>G | |
11 | g.71437883A>G | CA381703037 | DHCR7 | c.892T>C (p.Cys298Arg) c.718T>C (p.Cys240Arg) c.943T>C (p.Cys315Arg) c.928T>C (p.Cys310Arg) n.932T>C c.307T>C (p.Cys103Arg) c.796T>C (p.Cys266Arg) c.259T>C (p.Cys87Arg) c.142T>C (p.Cys48Arg) c.248T>C | |
11 | g.71437883A>T | CA381703038 | DHCR7 | c.892T>A (p.Cys298Ser) c.718T>A (p.Cys240Ser) c.943T>A (p.Cys315Ser) c.928T>A (p.Cys310Ser) n.932T>A c.307T>A (p.Cys103Ser) c.796T>A (p.Cys266Ser) c.259T>A (p.Cys87Ser) c.142T>A (p.Cys48Ser) c.248T>A | |
11 | g.71437884G>A | CA475567558 | DHCR7 | c.891C>T (p.Ile297=) c.717C>T (p.Ile239=) c.942C>T (p.Ile314=) c.927C>T (p.Ile309=) n.931C>T c.306C>T (p.Ile102=) c.795C>T (p.Ile265=) c.258C>T (p.Ile86=) c.141C>T (p.Ile47=) c.247C>T | ClinVar dbSNP |
11 | g.71437884G>C | CA381703039 | DHCR7 | c.891C>G (p.Ile297Met) c.717C>G (p.Ile239Met) c.942C>G (p.Ile314Met) c.927C>G (p.Ile309Met) n.931C>G c.306C>G (p.Ile102Met) c.795C>G (p.Ile265Met) c.258C>G (p.Ile86Met) c.141C>G (p.Ile47Met) c.247C>G | |
11 | g.71437884G>T | CA475567562 | DHCR7 | c.891C>A (p.Ile297=) c.717C>A (p.Ile239=) c.942C>A (p.Ile314=) c.927C>A (p.Ile309=) n.931C>A c.306C>A (p.Ile102=) c.795C>A (p.Ile265=) c.258C>A (p.Ile86=) c.141C>A (p.Ile47=) c.247C>A | |
11 | g.71437885A>C | CA381703040 | DHCR7 | c.890T>G (p.Ile297Ser) c.716T>G (p.Ile239Ser) c.941T>G (p.Ile314Ser) c.926T>G (p.Ile309Ser) n.930T>G c.305T>G (p.Ile102Ser) c.794T>G (p.Ile265Ser) c.257T>G (p.Ile86Ser) c.140T>G (p.Ile47Ser) c.246T>G | |
11 | g.71437885A>G | CA381703041 | DHCR7 | c.890T>C (p.Ile297Thr) c.716T>C (p.Ile239Thr) c.941T>C (p.Ile314Thr) c.926T>C (p.Ile309Thr) n.930T>C c.305T>C (p.Ile102Thr) c.794T>C (p.Ile265Thr) c.257T>C (p.Ile86Thr) c.140T>C (p.Ile47Thr) c.246T>C | gnomAD v4 |
11 | g.71437885A>T | CA381703042 | DHCR7 | c.890T>A (p.Ile297Asn) c.716T>A (p.Ile239Asn) c.941T>A (p.Ile314Asn) c.926T>A (p.Ile309Asn) n.930T>A c.305T>A (p.Ile102Asn) c.794T>A (p.Ile265Asn) c.257T>A (p.Ile86Asn) c.140T>A (p.Ile47Asn) c.246T>A | |
11 | g.71437886T>A | CA381703043 | DHCR7 | c.889A>T (p.Ile297Phe) c.715A>T (p.Ile239Phe) c.940A>T (p.Ile314Phe) c.925A>T (p.Ile309Phe) n.929A>T c.304A>T (p.Ile102Phe) c.793A>T (p.Ile265Phe) c.256A>T (p.Ile86Phe) c.139A>T (p.Ile47Phe) c.245A>T | |
11 | g.71437886T>C | CA381703045 | DHCR7 | c.889A>G (p.Ile297Val) c.715A>G (p.Ile239Val) c.940A>G (p.Ile314Val) c.925A>G (p.Ile309Val) n.929A>G c.304A>G (p.Ile102Val) c.793A>G (p.Ile265Val) c.256A>G (p.Ile86Val) c.139A>G (p.Ile47Val) c.245A>G | dbSNP |
11 | g.71437886T>G | CA381703044 | DHCR7 | c.889A>C (p.Ile297Leu) c.715A>C (p.Ile239Leu) c.940A>C (p.Ile314Leu) c.925A>C (p.Ile309Leu) n.929A>C c.304A>C (p.Ile102Leu) c.793A>C (p.Ile265Leu) c.256A>C (p.Ile86Leu) c.139A>C (p.Ile47Leu) c.245A>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.71437886T= | CA1981488032 | DHCR7 | c.889A= (p.Ile297=) c.715A= (p.Ile239=) c.940A= (p.Ile314=) c.925A= (p.Ile309=) n.929A= c.304A= (p.Ile102=) c.793A= (p.Ile265=) c.256A= (p.Ile86=) c.139A= (p.Ile47=) c.245A= | |
11 | g.71437887G>A | CA475567581 | DHCR7 | c.888C>T (p.Asp296=) c.714C>T (p.Asp238=) c.939C>T (p.Asp313=) c.924C>T (p.Asp308=) n.928C>T c.303C>T (p.Asp101=) c.792C>T (p.Asp264=) c.255C>T (p.Asp85=) c.138C>T (p.Asp46=) c.244C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.71437887G>C | CA381703046 | DHCR7 | c.888C>G (p.Asp296Glu) c.714C>G (p.Asp238Glu) c.939C>G (p.Asp313Glu) c.924C>G (p.Asp308Glu) n.928C>G c.303C>G (p.Asp101Glu) c.792C>G (p.Asp264Glu) c.255C>G (p.Asp85Glu) c.138C>G (p.Asp46Glu) c.244C>G | |
11 | g.71437887G= | CA1981488033 | DHCR7 | c.888C= (p.Asp296=) c.714C= (p.Asp238=) c.939C= (p.Asp313=) c.924C= (p.Asp308=) n.928C= c.303C= (p.Asp101=) c.792C= (p.Asp264=) c.255C= (p.Asp85=) c.138C= (p.Asp46=) c.244C= | |
11 | g.71437887G>T | CA381703047 | DHCR7 | c.888C>A (p.Asp296Glu) c.714C>A (p.Asp238Glu) c.939C>A (p.Asp313Glu) c.924C>A (p.Asp308Glu) n.928C>A c.303C>A (p.Asp101Glu) c.792C>A (p.Asp264Glu) c.255C>A (p.Asp85Glu) c.138C>A (p.Asp46Glu) c.244C>A | |
11 | g.71437888T>A | CA381703048 | DHCR7 | c.887A>T (p.Asp296Val) c.713A>T (p.Asp238Val) c.938A>T (p.Asp313Val) c.923A>T (p.Asp308Val) n.927A>T c.302A>T (p.Asp101Val) c.791A>T (p.Asp264Val) c.254A>T (p.Asp85Val) c.137A>T (p.Asp46Val) c.243A>T | |
11 | g.71437888T>C | CA381703049 | DHCR7 | c.887A>G (p.Asp296Gly) c.713A>G (p.Asp238Gly) c.938A>G (p.Asp313Gly) c.923A>G (p.Asp308Gly) n.927A>G c.302A>G (p.Asp101Gly) c.791A>G (p.Asp264Gly) c.254A>G (p.Asp85Gly) c.137A>G (p.Asp46Gly) c.243A>G | gnomAD v4 |
11 | g.71437888T>G | CA381703050 | DHCR7 | c.887A>C (p.Asp296Ala) c.713A>C (p.Asp238Ala) c.938A>C (p.Asp313Ala) c.923A>C (p.Asp308Ala) n.927A>C c.302A>C (p.Asp101Ala) c.791A>C (p.Asp264Ala) c.254A>C (p.Asp85Ala) c.137A>C (p.Asp46Ala) c.243A>C | |
11 | g.71437889C>A | CA381703051 | DHCR7 | c.886G>T (p.Asp296Tyr) c.712G>T (p.Asp238Tyr) c.937G>T (p.Asp313Tyr) c.922G>T (p.Asp308Tyr) n.926G>T c.301G>T (p.Asp101Tyr) c.790G>T (p.Asp264Tyr) c.253G>T (p.Asp85Tyr) c.136G>T (p.Asp46Tyr) c.242G>T | |
11 | g.71437889C>G | CA381703052 | DHCR7 | c.886G>C (p.Asp296His) c.712G>C (p.Asp238His) c.937G>C (p.Asp313His) c.922G>C (p.Asp308His) n.926G>C c.301G>C (p.Asp101His) c.790G>C (p.Asp264His) c.253G>C (p.Asp85His) c.136G>C (p.Asp46His) c.242G>C | |
11 | g.71437889C>T | CA381703053 | DHCR7 | c.886G>A (p.Asp296Asn) c.712G>A (p.Asp238Asn) c.937G>A (p.Asp313Asn) c.922G>A (p.Asp308Asn) n.926G>A c.301G>A (p.Asp101Asn) c.790G>A (p.Asp264Asn) c.253G>A (p.Asp85Asn) c.136G>A (p.Asp46Asn) c.242G>A | |
11 | g.71437890A= | CA1981488034 | DHCR7 | c.885T= (p.Ile295=) c.711T= (p.Ile237=) c.936T= (p.Ile312=) c.921T= (p.Ile307=) n.925T= c.300T= (p.Ile100=) c.789T= (p.Ile263=) c.252T= (p.Ile84=) c.135T= (p.Ile45=) c.241T= | |
11 | g.71437890A>C | CA381703054 | DHCR7 | c.885T>G (p.Ile295Met) c.711T>G (p.Ile237Met) c.936T>G (p.Ile312Met) c.921T>G (p.Ile307Met) n.925T>G c.300T>G (p.Ile100Met) c.789T>G (p.Ile263Met) c.252T>G (p.Ile84Met) c.135T>G (p.Ile45Met) c.241T>G | |
11 | g.71437890A>G | CA475567598 | DHCR7 | c.885T>C (p.Ile295=) c.711T>C (p.Ile237=) c.936T>C (p.Ile312=) c.921T>C (p.Ile307=) n.925T>C c.300T>C (p.Ile100=) c.789T>C (p.Ile263=) c.252T>C (p.Ile84=) c.135T>C (p.Ile45=) c.241T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71437890A>T | CA475567600 | DHCR7 | c.885T>A (p.Ile295=) c.711T>A (p.Ile237=) c.936T>A (p.Ile312=) c.921T>A (p.Ile307=) n.925T>A c.300T>A (p.Ile100=) c.789T>A (p.Ile263=) c.252T>A (p.Ile84=) c.135T>A (p.Ile45=) c.241T>A | |
11 | g.71437891A= | CA1981488035 | DHCR7 | c.884T= (p.Ile295=) c.710T= (p.Ile237=) c.935T= (p.Ile312=) c.920T= (p.Ile307=) n.924T= c.299T= (p.Ile100=) c.788T= (p.Ile263=) c.251T= (p.Ile84=) c.134T= (p.Ile45=) c.240T= | |
11 | g.71437891A>C | CA381703056 | DHCR7 | c.884T>G (p.Ile295Ser) c.710T>G (p.Ile237Ser) c.935T>G (p.Ile312Ser) c.920T>G (p.Ile307Ser) n.924T>G c.299T>G (p.Ile100Ser) c.788T>G (p.Ile263Ser) c.251T>G (p.Ile84Ser) c.134T>G (p.Ile45Ser) c.240T>G | |
11 | g.71437891A>G | CA224326636 | DHCR7 | c.884T>C (p.Ile295Thr) c.710T>C (p.Ile237Thr) c.935T>C (p.Ile312Thr) c.920T>C (p.Ile307Thr) n.924T>C c.299T>C (p.Ile100Thr) c.788T>C (p.Ile263Thr) c.251T>C (p.Ile84Thr) c.134T>C (p.Ile45Thr) c.240T>C | dbSNP gnomAD v2 gnomAD v4 |
11 | g.71437891A>T | CA381703055 | DHCR7 | c.884T>A (p.Ile295Asn) c.710T>A (p.Ile237Asn) c.935T>A (p.Ile312Asn) c.920T>A (p.Ile307Asn) n.924T>A c.299T>A (p.Ile100Asn) c.788T>A (p.Ile263Asn) c.251T>A (p.Ile84Asn) c.134T>A (p.Ile45Asn) c.240T>A | |
11 | g.71437892T>A | CA381703057 | DHCR7 | c.883A>T (p.Ile295Phe) c.709A>T (p.Ile237Phe) c.934A>T (p.Ile312Phe) c.919A>T (p.Ile307Phe) n.923A>T c.298A>T (p.Ile100Phe) c.787A>T (p.Ile263Phe) c.250A>T (p.Ile84Phe) c.133A>T (p.Ile45Phe) c.239A>T | ClinVar gnomAD v4 |
11 | g.71437892T>C | CA6162407 | DHCR7 | c.883A>G (p.Ile295Val) c.709A>G (p.Ile237Val) c.934A>G (p.Ile312Val) c.919A>G (p.Ile307Val) n.923A>G c.298A>G (p.Ile100Val) c.787A>G (p.Ile263Val) c.250A>G (p.Ile84Val) c.133A>G (p.Ile45Val) c.239A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71437892T>G | CA381703058 | DHCR7 | c.883A>C (p.Ile295Leu) c.709A>C (p.Ile237Leu) c.934A>C (p.Ile312Leu) c.919A>C (p.Ile307Leu) n.923A>C c.298A>C (p.Ile100Leu) c.787A>C (p.Ile263Leu) c.250A>C (p.Ile84Leu) c.133A>C (p.Ile45Leu) c.239A>C | |
11 | g.71437892T= | CA1981488036 | DHCR7 | c.883A= (p.Ile295=) c.709A= (p.Ile237=) c.934A= (p.Ile312=) c.919A= (p.Ile307=) n.923A= c.298A= (p.Ile100=) c.787A= (p.Ile263=) c.250A= (p.Ile84=) c.133A= (p.Ile45=) c.239A= | |
11 | g.71437893G>A | CA6162408 | DHCR7 | c.882C>T (p.Thr294=) c.708C>T (p.Thr236=) c.933C>T (p.Thr311=) c.918C>T (p.Thr306=) n.922C>T c.297C>T (p.Thr99=) c.786C>T (p.Thr262=) c.249C>T (p.Thr83=) c.132C>T (p.Thr44=) c.238C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71437893G>C | CA475567618 | DHCR7 | c.882C>G (p.Thr294=) c.708C>G (p.Thr236=) c.933C>G (p.Thr311=) c.918C>G (p.Thr306=) n.922C>G c.297C>G (p.Thr99=) c.786C>G (p.Thr262=) c.249C>G (p.Thr83=) c.132C>G (p.Thr44=) c.238C>G | |
11 | g.71437893G= | CA1981488037 | DHCR7 | c.882C= (p.Thr294=) c.708C= (p.Thr236=) c.933C= (p.Thr311=) c.918C= (p.Thr306=) n.922C= c.297C= (p.Thr99=) c.786C= (p.Thr262=) c.249C= (p.Thr83=) c.132C= (p.Thr44=) c.238C= | |
11 | g.71437893G>T | CA475567615 | DHCR7 | c.882C>A (p.Thr294=) c.708C>A (p.Thr236=) c.933C>A (p.Thr311=) c.918C>A (p.Thr306=) n.922C>A c.297C>A (p.Thr99=) c.786C>A (p.Thr262=) c.249C>A (p.Thr83=) c.132C>A (p.Thr44=) c.238C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.71437894G>A | CA381703059 | DHCR7 | c.881C>T (p.Thr294Ile) c.707C>T (p.Thr236Ile) c.932C>T (p.Thr311Ile) c.917C>T (p.Thr306Ile) n.921C>T c.296C>T (p.Thr99Ile) c.785C>T (p.Thr262Ile) c.248C>T (p.Thr83Ile) c.131C>T (p.Thr44Ile) c.237C>T | dbSNP gnomAD v2 gnomAD v4 |
11 | g.71437894G>C | CA381703060 | DHCR7 | c.881C>G (p.Thr294Ser) c.707C>G (p.Thr236Ser) c.932C>G (p.Thr311Ser) c.917C>G (p.Thr306Ser) n.921C>G c.296C>G (p.Thr99Ser) c.785C>G (p.Thr262Ser) c.248C>G (p.Thr83Ser) c.131C>G (p.Thr44Ser) c.237C>G | |
11 | g.71437894G= | CA1981488038 | DHCR7 | c.881C= (p.Thr294=) c.707C= (p.Thr236=) c.932C= (p.Thr311=) c.917C= (p.Thr306=) n.921C= c.296C= (p.Thr99=) c.785C= (p.Thr262=) c.248C= (p.Thr83=) c.131C= (p.Thr44=) c.237C= | |
11 | g.71437894G>T | CA381703061 | DHCR7 | c.881C>A (p.Thr294Asn) c.707C>A (p.Thr236Asn) c.932C>A (p.Thr311Asn) c.917C>A (p.Thr306Asn) n.921C>A c.296C>A (p.Thr99Asn) c.785C>A (p.Thr262Asn) c.248C>A (p.Thr83Asn) c.131C>A (p.Thr44Asn) c.237C>A | |
11 | g.71437895T>A | CA381703062 | DHCR7 | c.880A>T (p.Thr294Ser) c.706A>T (p.Thr236Ser) c.931A>T (p.Thr311Ser) c.916A>T (p.Thr306Ser) n.920A>T c.295A>T (p.Thr99Ser) c.784A>T (p.Thr262Ser) c.247A>T (p.Thr83Ser) c.130A>T (p.Thr44Ser) c.236A>T | |
11 | g.71437895T>C | CA381703063 | DHCR7 | c.880A>G (p.Thr294Ala) c.706A>G (p.Thr236Ala) c.931A>G (p.Thr311Ala) c.916A>G (p.Thr306Ala) n.920A>G c.295A>G (p.Thr99Ala) c.784A>G (p.Thr262Ala) c.247A>G (p.Thr83Ala) c.130A>G (p.Thr44Ala) c.236A>G | |
11 | g.71437895T>G | CA381703064 | DHCR7 | c.880A>C (p.Thr294Pro) c.706A>C (p.Thr236Pro) c.931A>C (p.Thr311Pro) c.916A>C (p.Thr306Pro) n.920A>C c.295A>C (p.Thr99Pro) c.784A>C (p.Thr262Pro) c.247A>C (p.Thr83Pro) c.130A>C (p.Thr44Pro) c.236A>C | |
11 | g.71437895_71437896delinsTC | CA1981488039 | DHCR7 | c.879_880delinsGA (p.Lys293=) c.705_706delinsGA (p.Lys235=) c.930_931delinsGA (p.Lys310=) c.915_916delinsGA (p.Lys305=) n.919_920delinsGA c.294_295delinsGA (p.Lys98=) c.783_784delinsGA (p.Lys261=) c.246_247delinsGA (p.Lys82=) c.129_130delinsGA (p.Lys43=) c.235_236delinsGA | |
11 | g.71437896del | CA600051903 | DHCR7 | c.879del (p.Thr294ProfsTer?) c.705del (p.Thr236ProfsTer?) c.930del (p.Thr311ProfsTer?) c.879del (p.Thr294ProfsTer29) c.915del (p.Thr306ProfsTer?) n.919del c.294del (p.Thr99ProfsTer?) c.783del (p.Thr262ProfsTer?) c.246del (p.Thr83ProfsTer?) c.129del (p.Thr44ProfsTer?) c.235del | dbSNP gnomAD v2 gnomAD v4 |
11 | g.71437896C>A | CA381703065 | DHCR7 | c.879G>T (p.Lys293Asn) c.705G>T (p.Lys235Asn) c.930G>T (p.Lys310Asn) c.915G>T (p.Lys305Asn) n.919G>T c.294G>T (p.Lys98Asn) c.783G>T (p.Lys261Asn) c.246G>T (p.Lys82Asn) c.129G>T (p.Lys43Asn) c.235G>T | |
11 | g.71437896C= | CA1981488040 | DHCR7 | c.879G= (p.Lys293=) c.705G= (p.Lys235=) c.930G= (p.Lys310=) c.915G= (p.Lys305=) n.919G= c.294G= (p.Lys98=) c.783G= (p.Lys261=) c.246G= (p.Lys82=) c.129G= (p.Lys43=) c.235G= | |
11 | g.71437896C>G | CA381703066 | DHCR7 | c.879G>C (p.Lys293Asn) c.705G>C (p.Lys235Asn) c.930G>C (p.Lys310Asn) c.915G>C (p.Lys305Asn) n.919G>C c.294G>C (p.Lys98Asn) c.783G>C (p.Lys261Asn) c.246G>C (p.Lys82Asn) c.129G>C (p.Lys43Asn) c.235G>C | |
11 | g.71437896C>T | CA224326641 | DHCR7 | c.879G>A (p.Lys293=) c.705G>A (p.Lys235=) c.930G>A (p.Lys310=) c.915G>A (p.Lys305=) n.919G>A c.294G>A (p.Lys98=) c.783G>A (p.Lys261=) c.246G>A (p.Lys82=) c.129G>A (p.Lys43=) c.235G>A | ClinVar dbSNP |
11 | g.71437897T>A | CA381703069 | DHCR7 | c.878A>T (p.Lys293Met) c.704A>T (p.Lys235Met) c.929A>T (p.Lys310Met) c.914A>T (p.Lys305Met) n.918A>T c.293A>T (p.Lys98Met) c.782A>T (p.Lys261Met) c.245A>T (p.Lys82Met) c.128A>T (p.Lys43Met) c.234A>T | |
11 | g.71437897T>C | CA381703067 | DHCR7 | c.878A>G (p.Lys293Arg) c.704A>G (p.Lys235Arg) c.929A>G (p.Lys310Arg) c.914A>G (p.Lys305Arg) n.918A>G c.293A>G (p.Lys98Arg) c.782A>G (p.Lys261Arg) c.245A>G (p.Lys82Arg) c.128A>G (p.Lys43Arg) c.234A>G | |
11 | g.71437897T>G | CA381703068 | DHCR7 | c.878A>C (p.Lys293Thr) c.704A>C (p.Lys235Thr) c.929A>C (p.Lys310Thr) c.914A>C (p.Lys305Thr) n.918A>C c.293A>C (p.Lys98Thr) c.782A>C (p.Lys261Thr) c.245A>C (p.Lys82Thr) c.128A>C (p.Lys43Thr) c.234A>C | |
11 | g.71437898T>A | CA381703070 | DHCR7 | c.877A>T (p.Lys293Ter) c.703A>T (p.Lys235Ter) c.928A>T (p.Lys310Ter) c.913A>T (p.Lys305Ter) n.917A>T c.292A>T (p.Lys98Ter) c.781A>T (p.Lys261Ter) c.244A>T (p.Lys82Ter) c.127A>T (p.Lys43Ter) c.233A>T | ClinVar dbSNP |
11 | g.71437898T>C | CA381703071 | DHCR7 | c.877A>G (p.Lys293Glu) c.703A>G (p.Lys235Glu) c.928A>G (p.Lys310Glu) c.913A>G (p.Lys305Glu) n.917A>G c.292A>G (p.Lys98Glu) c.781A>G (p.Lys261Glu) c.244A>G (p.Lys82Glu) c.127A>G (p.Lys43Glu) c.233A>G | |
11 | g.71437898T>G | CA381703072 | DHCR7 | c.877A>C (p.Lys293Gln) c.703A>C (p.Lys235Gln) c.928A>C (p.Lys310Gln) c.913A>C (p.Lys305Gln) n.917A>C c.292A>C (p.Lys98Gln) c.781A>C (p.Lys261Gln) c.244A>C (p.Lys82Gln) c.127A>C (p.Lys43Gln) c.233A>C | |
11 | g.71437898T= | CA1981488041 | DHCR7 | c.877A= (p.Lys293=) c.703A= (p.Lys235=) c.928A= (p.Lys310=) c.913A= (p.Lys305=) n.917A= c.292A= (p.Lys98=) c.781A= (p.Lys261=) c.244A= (p.Lys82=) c.127A= (p.Lys43=) c.233A= | |
11 | g.71437899C>A | CA475567648 | DHCR7 | c.876G>T (p.Leu292=) c.702G>T (p.Leu234=) c.927G>T (p.Leu309=) c.912G>T (p.Leu304=) n.916G>T c.291G>T (p.Leu97=) c.780G>T (p.Leu260=) c.243G>T (p.Leu81=) c.126G>T (p.Leu42=) c.232G>T | gnomAD v4 |
11 | g.71437899C>G | CA475567653 | DHCR7 | c.876G>C (p.Leu292=) c.702G>C (p.Leu234=) c.927G>C (p.Leu309=) c.912G>C (p.Leu304=) n.916G>C c.291G>C (p.Leu97=) c.780G>C (p.Leu260=) c.243G>C (p.Leu81=) c.126G>C (p.Leu42=) c.232G>C | |
11 | g.71437899C>T | CA475567651 | DHCR7 | c.876G>A (p.Leu292=) c.702G>A (p.Leu234=) c.927G>A (p.Leu309=) c.912G>A (p.Leu304=) n.916G>A c.291G>A (p.Leu97=) c.780G>A (p.Leu260=) c.243G>A (p.Leu81=) c.126G>A (p.Leu42=) c.232G>A | ClinVar gnomAD v4 |
11 | g.71437900A>C | CA381703073 | DHCR7 | c.875T>G (p.Leu292Arg) c.701T>G (p.Leu234Arg) c.926T>G (p.Leu309Arg) c.911T>G (p.Leu304Arg) n.915T>G c.290T>G (p.Leu97Arg) c.779T>G (p.Leu260Arg) c.242T>G (p.Leu81Arg) c.125T>G (p.Leu42Arg) c.231T>G | |
11 | g.71437900A>G | CA381703074 | DHCR7 | c.875T>C (p.Leu292Pro) c.701T>C (p.Leu234Pro) c.926T>C (p.Leu309Pro) c.911T>C (p.Leu304Pro) n.915T>C c.290T>C (p.Leu97Pro) c.779T>C (p.Leu260Pro) c.242T>C (p.Leu81Pro) c.125T>C (p.Leu42Pro) c.231T>C | |
11 | g.71437900A>T | CA381703075 | DHCR7 | c.875T>A (p.Leu292Gln) c.701T>A (p.Leu234Gln) c.926T>A (p.Leu309Gln) c.911T>A (p.Leu304Gln) n.915T>A c.290T>A (p.Leu97Gln) c.779T>A (p.Leu260Gln) c.242T>A (p.Leu81Gln) c.125T>A (p.Leu42Gln) c.231T>A | |
11 | g.71437900_71437901del | CA912973040 | DHCR7 | c.874_875del (p.Leu292GlufsTer4) c.700_701del (p.Leu234GlufsTer4) c.925_926del (p.Leu309GlufsTer4) c.910_911del (p.Leu304GlufsTer4) n.914_915del c.289_290del (p.Leu97GlufsTer4) c.778_779del (p.Leu260GlufsTer4) c.241_242del (p.Leu81GlufsTer4) c.124_125del (p.Leu42GlufsTer4) c.230_231del | |
11 | g.71437900_71437901delinsAG | CA1981488042 | DHCR7 | c.874_875delinsCT (p.Leu292=) c.700_701delinsCT (p.Leu234=) c.925_926delinsCT (p.Leu309=) c.910_911delinsCT (p.Leu304=) n.914_915delinsCT c.289_290delinsCT (p.Leu97=) c.778_779delinsCT (p.Leu260=) c.241_242delinsCT (p.Leu81=) c.124_125delinsCT (p.Leu42=) c.230_231delinsCT | |
11 | g.71437901G>A | CA6162409 | DHCR7 | c.874C>T (p.Leu292=) c.700C>T (p.Leu234=) c.925C>T (p.Leu309=) c.910C>T (p.Leu304=) n.914C>T c.289C>T (p.Leu97=) c.778C>T (p.Leu260=) c.241C>T (p.Leu81=) c.124C>T (p.Leu42=) c.230C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
11 | g.71437901G>C | CA381703076 | DHCR7 | c.874C>G (p.Leu292Val) c.700C>G (p.Leu234Val) c.925C>G (p.Leu309Val) c.910C>G (p.Leu304Val) n.914C>G c.289C>G (p.Leu97Val) c.778C>G (p.Leu260Val) c.241C>G (p.Leu81Val) c.124C>G (p.Leu42Val) c.230C>G | |
11 | g.71437901G= | CA1981488043 | DHCR7 | c.874C= (p.Leu292=) c.700C= (p.Leu234=) c.925C= (p.Leu309=) c.910C= (p.Leu304=) n.914C= c.289C= (p.Leu97=) c.778C= (p.Leu260=) c.241C= (p.Leu81=) c.124C= (p.Leu42=) c.230C= | |
11 | g.71437901G>T | CA381703077 | DHCR7 | c.874C>A (p.Leu292Met) c.700C>A (p.Leu234Met) c.925C>A (p.Leu309Met) c.910C>A (p.Leu304Met) n.914C>A c.289C>A (p.Leu97Met) c.778C>A (p.Leu260Met) c.241C>A (p.Leu81Met) c.124C>A (p.Leu42Met) c.230C>A | |
11 | g.71437902del | CA658823156 | DHCR7 | c.874del (p.Leu292Ter) c.700del (p.Leu234Ter) c.925del (p.Leu309Ter) c.910del (p.Leu304Ter) n.914del c.289del (p.Leu97Ter) c.778del (p.Leu260Ter) c.241del (p.Leu81Ter) c.124del (p.Leu42Ter) c.230del | ClinVar dbSNP |
11 | g.71437902G>A | CA475567668 | DHCR7 | c.873C>T (p.Tyr291=) c.699C>T (p.Tyr233=) c.924C>T (p.Tyr308=) c.909C>T (p.Tyr303=) n.913C>T c.288C>T (p.Tyr96=) c.777C>T (p.Tyr259=) c.240C>T (p.Tyr80=) c.123C>T (p.Tyr41=) c.229C>T | |
11 | g.71437902G>C | CA381703078 | DHCR7 | c.873C>G (p.Tyr291Ter) c.699C>G (p.Tyr233Ter) c.924C>G (p.Tyr308Ter) c.909C>G (p.Tyr303Ter) n.913C>G c.288C>G (p.Tyr96Ter) c.777C>G (p.Tyr259Ter) c.240C>G (p.Tyr80Ter) c.123C>G (p.Tyr41Ter) c.229C>G | |
11 | g.71437902G>T | CA381703079 | DHCR7 | c.873C>A (p.Tyr291Ter) c.699C>A (p.Tyr233Ter) c.924C>A (p.Tyr308Ter) c.909C>A (p.Tyr303Ter) n.913C>A c.288C>A (p.Tyr96Ter) c.777C>A (p.Tyr259Ter) c.240C>A (p.Tyr80Ter) c.123C>A (p.Tyr41Ter) c.229C>A | |
11 | g.71437903T>A | CA381703082 | DHCR7 | c.872A>T (p.Tyr291Phe) c.698A>T (p.Tyr233Phe) c.923A>T (p.Tyr308Phe) c.908A>T (p.Tyr303Phe) n.912A>T c.287A>T (p.Tyr96Phe) c.776A>T (p.Tyr259Phe) c.239A>T (p.Tyr80Phe) c.776A>T c.122A>T (p.Tyr41Phe) c.228A>T | |
11 | g.71437903T>C | CA381703081 | DHCR7 | c.872A>G (p.Tyr291Cys) c.698A>G (p.Tyr233Cys) c.923A>G (p.Tyr308Cys) c.908A>G (p.Tyr303Cys) n.912A>G c.287A>G (p.Tyr96Cys) c.776A>G (p.Tyr259Cys) c.239A>G (p.Tyr80Cys) c.776A>G c.122A>G (p.Tyr41Cys) c.228A>G | |
11 | g.71437903T>G | CA381703080 | DHCR7 | c.872A>C (p.Tyr291Ser) c.698A>C (p.Tyr233Ser) c.923A>C (p.Tyr308Ser) c.908A>C (p.Tyr303Ser) n.912A>C c.287A>C (p.Tyr96Ser) c.776A>C (p.Tyr259Ser) c.239A>C (p.Tyr80Ser) c.776A>C c.122A>C (p.Tyr41Ser) c.228A>C | |
11 | g.71437904A>C | CA381703083 | DHCR7 | c.871T>G (p.Tyr291Asp) c.697T>G (p.Tyr233Asp) c.922T>G (p.Tyr308Asp) c.907T>G (p.Tyr303Asp) n.911T>G c.286T>G (p.Tyr96Asp) c.775T>G (p.Tyr259Asp) c.238T>G (p.Tyr80Asp) c.775T>G c.121T>G (p.Tyr41Asp) c.227T>G | |
11 | g.71437904A>G | CA381703084 | DHCR7 | c.871T>C (p.Tyr291His) c.697T>C (p.Tyr233His) c.922T>C (p.Tyr308His) c.907T>C (p.Tyr303His) n.911T>C c.286T>C (p.Tyr96His) c.775T>C (p.Tyr259His) c.238T>C (p.Tyr80His) c.775T>C c.121T>C (p.Tyr41His) c.227T>C | |
11 | g.71437904A>T | CA381703085 | DHCR7 | c.871T>A (p.Tyr291Asn) c.697T>A (p.Tyr233Asn) c.922T>A (p.Tyr308Asn) c.907T>A (p.Tyr303Asn) n.911T>A c.286T>A (p.Tyr96Asn) c.775T>A (p.Tyr259Asn) c.238T>A (p.Tyr80Asn) c.775T>A c.121T>A (p.Tyr41Asn) c.227T>A | |
11 | g.71437905C>A | CA381703086 | DHCR7 | c.870G>T (p.Trp290Cys) c.696G>T (p.Trp232Cys) c.921G>T (p.Trp307Cys) c.906G>T (p.Trp302Cys) n.910G>T c.285G>T (p.Trp95Cys) c.774G>T (p.Trp258Cys) c.237G>T (p.Trp79Cys) c.120G>T (p.Trp40Cys) c.226G>T | gnomAD v4 |
11 | g.71437905C= | CA1981488044 | DHCR7 | c.870G= (p.Trp290=) c.696G= (p.Trp232=) c.921G= (p.Trp307=) c.906G= (p.Trp302=) n.910G= c.285G= (p.Trp95=) c.774G= (p.Trp258=) c.237G= (p.Trp79=) c.120G= (p.Trp40=) c.226G= | |
11 | g.71437905C>G | CA381703087 | DHCR7 | c.870G>C (p.Trp290Cys) c.696G>C (p.Trp232Cys) c.921G>C (p.Trp307Cys) c.906G>C (p.Trp302Cys) n.910G>C c.285G>C (p.Trp95Cys) c.774G>C (p.Trp258Cys) c.237G>C (p.Trp79Cys) c.120G>C (p.Trp40Cys) c.226G>C | |
11 | g.71437905C>T | CA6162410 | DHCR7 | c.870G>A (p.Trp290Ter) c.696G>A (p.Trp232Ter) c.921G>A (p.Trp307Ter) c.906G>A (p.Trp302Ter) n.910G>A c.285G>A (p.Trp95Ter) c.774G>A (p.Trp258Ter) c.237G>A (p.Trp79Ter) c.120G>A (p.Trp40Ter) c.226G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.71437906C>A | CA381703088 | DHCR7 | c.869G>T (p.Trp290Leu) c.695G>T (p.Trp232Leu) c.920G>T (p.Trp307Leu) c.905G>T (p.Trp302Leu) n.909G>T c.284G>T (p.Trp95Leu) c.773G>T (p.Trp258Leu) c.236G>T (p.Trp79Leu) c.119G>T (p.Trp40Leu) c.225G>T | |
11 | g.71437906C>G | CA381703089 | DHCR7 | c.869G>C (p.Trp290Ser) c.695G>C (p.Trp232Ser) c.920G>C (p.Trp307Ser) c.905G>C (p.Trp302Ser) n.909G>C c.284G>C (p.Trp95Ser) c.773G>C (p.Trp258Ser) c.236G>C (p.Trp79Ser) c.119G>C (p.Trp40Ser) c.225G>C | |
11 | g.71437906C>T | CA381703090 | DHCR7 | c.869G>A (p.Trp290Ter) c.695G>A (p.Trp232Ter) c.920G>A (p.Trp307Ter) c.905G>A (p.Trp302Ter) n.909G>A c.284G>A (p.Trp95Ter) c.773G>A (p.Trp258Ter) c.236G>A (p.Trp79Ter) c.119G>A (p.Trp40Ter) c.225G>A | |
11 | g.71437907A>C | CA381703091 | DHCR7 | c.868T>G (p.Trp290Gly) c.694T>G (p.Trp232Gly) c.919T>G (p.Trp307Gly) c.904T>G (p.Trp302Gly) n.908T>G c.283T>G (p.Trp95Gly) c.772T>G (p.Trp258Gly) c.235T>G (p.Trp79Gly) c.118T>G (p.Trp40Gly) c.224T>G | |
11 | g.71437907A>G | CA381703092 | DHCR7 | c.868T>C (p.Trp290Arg) c.694T>C (p.Trp232Arg) c.919T>C (p.Trp307Arg) c.904T>C (p.Trp302Arg) n.908T>C c.283T>C (p.Trp95Arg) c.772T>C (p.Trp258Arg) c.235T>C (p.Trp79Arg) c.118T>C (p.Trp40Arg) c.224T>C | |
11 | g.71437907A>T | CA381703093 | DHCR7 | c.868T>A (p.Trp290Arg) c.694T>A (p.Trp232Arg) c.919T>A (p.Trp307Arg) c.904T>A (p.Trp302Arg) n.908T>A c.283T>A (p.Trp95Arg) c.772T>A (p.Trp258Arg) c.235T>A (p.Trp79Arg) c.118T>A (p.Trp40Arg) c.224T>A | |
11 | g.71437908G>A | CA6162411 | DHCR7 | c.867C>T (p.Thr289=) c.693C>T (p.Thr231=) c.918C>T (p.Thr306=) c.903C>T (p.Thr301=) n.907C>T c.282C>T (p.Thr94=) c.771C>T (p.Thr257=) c.234C>T (p.Thr78=) c.117C>T (p.Thr39=) c.223C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71437908G>C | CA475567704 | DHCR7 | c.867C>G (p.Thr289=) c.693C>G (p.Thr231=) c.918C>G (p.Thr306=) c.903C>G (p.Thr301=) n.907C>G c.282C>G (p.Thr94=) c.771C>G (p.Thr257=) c.234C>G (p.Thr78=) c.117C>G (p.Thr39=) c.223C>G | gnomAD v4 |
11 | g.71437908G= | CA1981488045 | DHCR7 | c.867C= (p.Thr289=) c.693C= (p.Thr231=) c.918C= (p.Thr306=) c.903C= (p.Thr301=) n.907C= c.282C= (p.Thr94=) c.771C= (p.Thr257=) c.234C= (p.Thr78=) c.117C= (p.Thr39=) c.223C= | |
11 | g.71437908G>T | CA475567708 | DHCR7 | c.867C>A (p.Thr289=) c.693C>A (p.Thr231=) c.918C>A (p.Thr306=) c.903C>A (p.Thr301=) n.907C>A c.282C>A (p.Thr94=) c.771C>A (p.Thr257=) c.234C>A (p.Thr78=) c.117C>A (p.Thr39=) c.223C>A | |
11 | g.71437908_71437925delinsGGTTTCGTTCCAGAAGAA | CA1981488046 | DHCR7 | c.850_867delinsTTCTTCTGGAACGAAACC (p.Phe284=) c.676_693delinsTTCTTCTGGAACGAAACC (p.Phe226=) c.901_918delinsTTCTTCTGGAACGAAACC (p.Phe301=) c.886_903delinsTTCTTCTGGAACGAAACC (p.Phe296=) n.890_907delinsTTCTTCTGGAACGAAACC c.265_282delinsTTCTTCTGGAACGAAACC (p.Phe89=) c.754_771delinsTTCTTCTGGAACGAAACC (p.Phe252=) c.217_234delinsTTCTTCTGGAACGAAACC (p.Phe73=) c.100_117delinsTTCTTCTGGAACGAAACC (p.Phe34=) c.206_223delinsTTCTTCTGGAACGAAACC | |
11 | g.71437909G>A | CA253946 | DHCR7 | c.866C>T (p.Thr289Ile) c.692C>T (p.Thr231Ile) c.917C>T (p.Thr306Ile) c.902C>T (p.Thr301Ile) n.906C>T c.281C>T (p.Thr94Ile) c.770C>T (p.Thr257Ile) c.233C>T (p.Thr78Ile) c.116C>T (p.Thr39Ile) c.222C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71437909G>C | CA381703095 | DHCR7 | c.866C>G (p.Thr289Ser) c.692C>G (p.Thr231Ser) c.917C>G (p.Thr306Ser) c.902C>G (p.Thr301Ser) n.906C>G c.281C>G (p.Thr94Ser) c.770C>G (p.Thr257Ser) c.233C>G (p.Thr78Ser) c.116C>G (p.Thr39Ser) c.222C>G | |
11 | g.71437909G= | CA1981488048 | DHCR7 | c.866C= (p.Thr289=) c.692C= (p.Thr231=) c.917C= (p.Thr306=) c.902C= (p.Thr301=) n.906C= c.281C= (p.Thr94=) c.770C= (p.Thr257=) c.233C= (p.Thr78=) c.116C= (p.Thr39=) c.222C= | |
11 | g.71437909G>T | CA381703094 | DHCR7 | c.866C>A (p.Thr289Asn) c.692C>A (p.Thr231Asn) c.917C>A (p.Thr306Asn) c.902C>A (p.Thr301Asn) n.906C>A c.281C>A (p.Thr94Asn) c.770C>A (p.Thr257Asn) c.233C>A (p.Thr78Asn) c.116C>A (p.Thr39Asn) c.222C>A | |
11 | g.71437911_71437927del | CA1981488047 | DHCR7 | c.850_866del (p.Phe284LeufsTer7) c.676_692del (p.Phe226LeufsTer7) c.901_917del (p.Phe301LeufsTer7) c.886_902del (p.Phe296LeufsTer7) n.890_906del c.265_281del (p.Phe89LeufsTer7) c.754_770del (p.Phe252LeufsTer7) c.217_233del (p.Phe73LeufsTer7) c.754_770del (p.Phe252LeufsTer?) c.100_116del (p.Phe34LeufsTer7) c.206_222del | dbSNP |
11 | g.71437910T>A | CA381703096 | DHCR7 | c.865A>T (p.Thr289Ser) c.691A>T (p.Thr231Ser) c.916A>T (p.Thr306Ser) c.901A>T (p.Thr301Ser) n.905A>T c.280A>T (p.Thr94Ser) c.769A>T (p.Thr257Ser) c.232A>T (p.Thr78Ser) c.115A>T (p.Thr39Ser) c.221A>T | |
11 | g.71437910T>C | CA381703097 | DHCR7 | c.865A>G (p.Thr289Ala) c.691A>G (p.Thr231Ala) c.916A>G (p.Thr306Ala) c.901A>G (p.Thr301Ala) n.905A>G c.280A>G (p.Thr94Ala) c.769A>G (p.Thr257Ala) c.232A>G (p.Thr78Ala) c.115A>G (p.Thr39Ala) c.221A>G | |
11 | g.71437910T>G | CA381703098 | DHCR7 | c.865A>C (p.Thr289Pro) c.691A>C (p.Thr231Pro) c.916A>C (p.Thr306Pro) c.901A>C (p.Thr301Pro) n.905A>C c.280A>C (p.Thr94Pro) c.769A>C (p.Thr257Pro) c.232A>C (p.Thr78Pro) c.115A>C (p.Thr39Pro) c.221A>C | |
11 | g.71437911T>A | CA381703099 | DHCR7 | c.864A>T (p.Glu288Asp) c.690A>T (p.Glu230Asp) c.915A>T (p.Glu305Asp) c.900A>T (p.Glu300Asp) n.904A>T c.279A>T (p.Glu93Asp) c.768A>T (p.Glu256Asp) c.231A>T (p.Glu77Asp) c.114A>T (p.Glu38Asp) c.220A>T | |
11 | g.71437911T>C | CA475567727 | DHCR7 | c.864A>G (p.Glu288=) c.690A>G (p.Glu230=) c.915A>G (p.Glu305=) c.900A>G (p.Glu300=) n.904A>G c.279A>G (p.Glu93=) c.768A>G (p.Glu256=) c.231A>G (p.Glu77=) c.114A>G (p.Glu38=) c.220A>G | |
11 | g.71437911T>G | CA381703100 | DHCR7 | c.864A>C (p.Glu288Asp) c.690A>C (p.Glu230Asp) c.915A>C (p.Glu305Asp) c.900A>C (p.Glu300Asp) n.904A>C c.279A>C (p.Glu93Asp) c.768A>C (p.Glu256Asp) c.231A>C (p.Glu77Asp) c.114A>C (p.Glu38Asp) c.220A>C | |
11 | g.71437912T>A | CA381703101 | DHCR7 | c.863A>T (p.Glu288Val) c.689A>T (p.Glu230Val) c.914A>T (p.Glu305Val) c.899A>T (p.Glu300Val) n.903A>T c.278A>T (p.Glu93Val) c.767A>T (p.Glu256Val) c.230A>T (p.Glu77Val) c.113A>T (p.Glu38Val) c.219A>T | |
11 | g.71437912T>C | CA381703102 | DHCR7 | c.863A>G (p.Glu288Gly) c.689A>G (p.Glu230Gly) c.914A>G (p.Glu305Gly) c.899A>G (p.Glu300Gly) n.903A>G c.278A>G (p.Glu93Gly) c.767A>G (p.Glu256Gly) c.230A>G (p.Glu77Gly) c.113A>G (p.Glu38Gly) c.219A>G | |
11 | g.71437912T>G | CA381703103 | DHCR7 | c.863A>C (p.Glu288Ala) c.689A>C (p.Glu230Ala) c.914A>C (p.Glu305Ala) c.899A>C (p.Glu300Ala) n.903A>C c.278A>C (p.Glu93Ala) c.767A>C (p.Glu256Ala) c.230A>C (p.Glu77Ala) c.113A>C (p.Glu38Ala) c.219A>C | |
11 | g.71437913C>A | CA381703104 | DHCR7 | c.862G>T (p.Glu288Ter) c.688G>T (p.Glu230Ter) c.913G>T (p.Glu305Ter) c.898G>T (p.Glu300Ter) n.902G>T c.277G>T (p.Glu93Ter) c.766G>T (p.Glu256Ter) c.229G>T (p.Glu77Ter) c.112G>T (p.Glu38Ter) c.218G>T | ClinVar |
11 | g.71437913C= | CA1981488049 | DHCR7 | c.862G= (p.Glu288=) c.688G= (p.Glu230=) c.913G= (p.Glu305=) c.898G= (p.Glu300=) n.902G= c.277G= (p.Glu93=) c.766G= (p.Glu256=) c.229G= (p.Glu77=) c.112G= (p.Glu38=) c.218G= | |
11 | g.71437913C>G | CA381703105 | DHCR7 | c.862G>C (p.Glu288Gln) c.688G>C (p.Glu230Gln) c.913G>C (p.Glu305Gln) c.898G>C (p.Glu300Gln) n.902G>C c.277G>C (p.Glu93Gln) c.766G>C (p.Glu256Gln) c.229G>C (p.Glu77Gln) c.112G>C (p.Glu38Gln) c.218G>C | |
11 | g.71437913C>T | CA6162412 | DHCR7 | c.862G>A (p.Glu288Lys) c.688G>A (p.Glu230Lys) c.913G>A (p.Glu305Lys) c.898G>A (p.Glu300Lys) n.902G>A c.277G>A (p.Glu93Lys) c.766G>A (p.Glu256Lys) c.229G>A (p.Glu77Lys) c.112G>A (p.Glu38Lys) c.218G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
11 | g.71437914G>A | CA224326679 | DHCR7 | c.861C>T (p.Asn287=) c.687C>T (p.Asn229=) c.912C>T (p.Asn304=) c.897C>T (p.Asn299=) n.901C>T c.276C>T (p.Asn92=) c.765C>T (p.Asn255=) c.228C>T (p.Asn76=) c.111C>T (p.Asn37=) c.217C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71437914G>C | CA381703106 | DHCR7 | c.861C>G (p.Asn287Lys) c.687C>G (p.Asn229Lys) c.912C>G (p.Asn304Lys) c.897C>G (p.Asn299Lys) n.901C>G c.276C>G (p.Asn92Lys) c.765C>G (p.Asn255Lys) c.228C>G (p.Asn76Lys) c.111C>G (p.Asn37Lys) c.217C>G | |
11 | g.71437914G= | CA1981488050 | DHCR7 | c.861C= (p.Asn287=) c.687C= (p.Asn229=) c.912C= (p.Asn304=) c.897C= (p.Asn299=) n.901C= c.276C= (p.Asn92=) c.765C= (p.Asn255=) c.228C= (p.Asn76=) c.111C= (p.Asn37=) c.217C= | |
11 | g.71437914G>T | CA6162413 | DHCR7 | c.861C>A (p.Asn287Lys) c.687C>A (p.Asn229Lys) c.912C>A (p.Asn304Lys) c.897C>A (p.Asn299Lys) n.901C>A c.276C>A (p.Asn92Lys) c.765C>A (p.Asn255Lys) c.228C>A (p.Asn76Lys) c.111C>A (p.Asn37Lys) c.217C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71437914_71437915insATAAAAGCACCAACCTTGAGGGCTGTTGTGGTCATTAAATGAGTAACTCTACCTGCC | CA2614858481 | DHCR7 | c.860_861insGGCAGGTAGAGTTACTCATTTAATGACCACAACAGCCCTCAAGGTTGGTGCTTTTAT (p.Asn287delinsLysAlaGlyArgValThrHisLeuMetThrThrThrAlaLeuLysValGlyAlaPheIle) c.686_687insGGCAGGTAGAGTTACTCATTTAATGACCACAACAGCCCTCAAGGTTGGTGCTTTTAT (p.Asn229delinsLysAlaGlyArgValThrHisLeuMetThrThrThrAlaLeuLysValGlyAlaPheIle) c.911_912insGGCAGGTAGAGTTACTCATTTAATGACCACAACAGCCCTCAAGGTTGGTGCTTTTAT (p.Asn304delinsLysAlaGlyArgValThrHisLeuMetThrThrThrAlaLeuLysValGlyAlaPheIle) c.896_897insGGCAGGTAGAGTTACTCATTTAATGACCACAACAGCCCTCAAGGTTGGTGCTTTTAT (p.Asn299delinsLysAlaGlyArgValThrHisLeuMetThrThrThrAlaLeuLysValGlyAlaPheIle) n.900_901insGGCAGGTAGAGTTACTCATTTAATGACCACAACAGCCCTCAAGGTTGGTGCTTTTAT c.275_276insGGCAGGTAGAGTTACTCATTTAATGACCACAACAGCCCTCAAGGTTGGTGCTTTTAT (p.Asn92delinsLysAlaGlyArgValThrHisLeuMetThrThrThrAlaLeuLysValGlyAlaPheIle) c.764_765insGGCAGGTAGAGTTACTCATTTAATGACCACAACAGCCCTCAAGGTTGGTGCTTTTAT (p.Asn255delinsLysAlaGlyArgValThrHisLeuMetThrThrThrAlaLeuLysValGlyAlaPheIle) c.227_228insGGCAGGTAGAGTTACTCATTTAATGACCACAACAGCCCTCAAGGTTGGTGCTTTTAT (p.Asn76delinsLysAlaGlyArgValThrHisLeuMetThrThrThrAlaLeuLysValGlyAlaPheIle) c.110_111insGGCAGGTAGAGTTACTCATTTAATGACCACAACAGCCCTCAAGGTTGGTGCTTTTAT (p.Asn37delinsLysAlaGlyArgValThrHisLeuMetThrThrThrAlaLeuLysValGlyAlaPheIle) c.216_217insGGCAGGTAGAGTTACTCATTTAATGACCACAACAGCCCTCAAGGTTGGTGCTTTTAT | gnomAD v4 |
11 | g.71437915T>A | CA381703108 | DHCR7 | c.860A>T (p.Asn287Ile) c.686A>T (p.Asn229Ile) c.911A>T (p.Asn304Ile) c.896A>T (p.Asn299Ile) n.900A>T c.275A>T (p.Asn92Ile) c.764A>T (p.Asn255Ile) c.227A>T (p.Asn76Ile) c.110A>T (p.Asn37Ile) c.216A>T | |
11 | g.71437915T>C | CA6162414 | DHCR7 | c.860A>G (p.Asn287Ser) c.686A>G (p.Asn229Ser) c.911A>G (p.Asn304Ser) c.896A>G (p.Asn299Ser) n.900A>G c.275A>G (p.Asn92Ser) c.764A>G (p.Asn255Ser) c.227A>G (p.Asn76Ser) c.110A>G (p.Asn37Ser) c.216A>G | dbSNP ExAC gnomAD v2 |
11 | g.71437915T>G | CA381703107 | DHCR7 | c.860A>C (p.Asn287Thr) c.686A>C (p.Asn229Thr) c.911A>C (p.Asn304Thr) c.896A>C (p.Asn299Thr) n.900A>C c.275A>C (p.Asn92Thr) c.764A>C (p.Asn255Thr) c.227A>C (p.Asn76Thr) c.110A>C (p.Asn37Thr) c.216A>C | |
11 | g.71437915T= | CA1981488051 | DHCR7 | c.860A= (p.Asn287=) c.686A= (p.Asn229=) c.911A= (p.Asn304=) c.896A= (p.Asn299=) n.900A= c.275A= (p.Asn92=) c.764A= (p.Asn255=) c.227A= (p.Asn76=) c.110A= (p.Asn37=) c.216A= | |
11 | g.71437916del | CA2614858483 | DHCR7 | c.860del (p.Asn287ThrfsTer6) c.686del (p.Asn229ThrfsTer6) c.911del (p.Asn304ThrfsTer6) c.896del (p.Asn299ThrfsTer6) n.900del c.275del (p.Asn92ThrfsTer6) c.764del (p.Asn255ThrfsTer6) c.227del (p.Asn76ThrfsTer6) c.764del (p.Asn255ThrfsTer?) c.110del (p.Asn37ThrfsTer6) c.216del | gnomAD v4 |
11 | g.71437916T>A | CA381703109 | DHCR7 | c.859A>T (p.Asn287Tyr) c.685A>T (p.Asn229Tyr) c.910A>T (p.Asn304Tyr) c.895A>T (p.Asn299Tyr) n.899A>T c.274A>T (p.Asn92Tyr) c.763A>T (p.Asn255Tyr) c.226A>T (p.Asn76Tyr) c.109A>T (p.Asn37Tyr) c.215A>T | |
11 | g.71437916T>C | CA381703110 | DHCR7 | c.859A>G (p.Asn287Asp) c.685A>G (p.Asn229Asp) c.910A>G (p.Asn304Asp) c.895A>G (p.Asn299Asp) n.899A>G c.274A>G (p.Asn92Asp) c.763A>G (p.Asn255Asp) c.226A>G (p.Asn76Asp) c.109A>G (p.Asn37Asp) c.215A>G | |
11 | g.71437916T>G | CA381703111 | DHCR7 | c.859A>C (p.Asn287His) c.685A>C (p.Asn229His) c.910A>C (p.Asn304His) c.895A>C (p.Asn299His) n.899A>C c.274A>C (p.Asn92His) c.763A>C (p.Asn255His) c.226A>C (p.Asn76His) c.109A>C (p.Asn37His) c.215A>C | |
11 | g.71437917C>A | CA381703112 | DHCR7 | c.858G>T (p.Trp286Cys) c.684G>T (p.Trp228Cys) c.909G>T (p.Trp303Cys) c.894G>T (p.Trp298Cys) n.898G>T c.273G>T (p.Trp91Cys) c.762G>T (p.Trp254Cys) c.225G>T (p.Trp75Cys) c.108G>T (p.Trp36Cys) c.214G>T | |
11 | g.71437917C= | CA1981488052 | DHCR7 | c.858G= (p.Trp286=) c.684G= (p.Trp228=) c.909G= (p.Trp303=) c.894G= (p.Trp298=) n.898G= c.273G= (p.Trp91=) c.762G= (p.Trp254=) c.225G= (p.Trp75=) c.108G= (p.Trp36=) c.214G= | |
11 | g.71437917C>G | CA381703113 | DHCR7 | c.858G>C (p.Trp286Cys) c.684G>C (p.Trp228Cys) c.909G>C (p.Trp303Cys) c.894G>C (p.Trp298Cys) n.898G>C c.273G>C (p.Trp91Cys) c.762G>C (p.Trp254Cys) c.225G>C (p.Trp75Cys) c.108G>C (p.Trp36Cys) c.214G>C | |
11 | g.71437917C>T | CA381703114 | DHCR7 | c.858G>A (p.Trp286Ter) c.684G>A (p.Trp228Ter) c.909G>A (p.Trp303Ter) c.894G>A (p.Trp298Ter) n.898G>A c.273G>A (p.Trp91Ter) c.762G>A (p.Trp254Ter) c.225G>A (p.Trp75Ter) c.108G>A (p.Trp36Ter) c.214G>A | ClinVar dbSNP |
11 | g.71437918C>A | CA381703115 | DHCR7 | c.857G>T (p.Trp286Leu) c.683G>T (p.Trp228Leu) c.908G>T (p.Trp303Leu) c.893G>T (p.Trp298Leu) n.897G>T c.272G>T (p.Trp91Leu) c.761G>T (p.Trp254Leu) c.224G>T (p.Trp75Leu) c.107G>T (p.Trp36Leu) c.213G>T | |
11 | g.71437918C>G | CA381703116 | DHCR7 | c.857G>C (p.Trp286Ser) c.683G>C (p.Trp228Ser) c.908G>C (p.Trp303Ser) c.893G>C (p.Trp298Ser) n.897G>C c.272G>C (p.Trp91Ser) c.761G>C (p.Trp254Ser) c.224G>C (p.Trp75Ser) c.107G>C (p.Trp36Ser) c.213G>C | |
11 | g.71437918C>T | CA381703117 | DHCR7 | c.857G>A (p.Trp286Ter) c.683G>A (p.Trp228Ter) c.908G>A (p.Trp303Ter) c.893G>A (p.Trp298Ter) n.897G>A c.272G>A (p.Trp91Ter) c.761G>A (p.Trp254Ter) c.224G>A (p.Trp75Ter) c.107G>A (p.Trp36Ter) c.213G>A | |
11 | g.71437918_71437921delinsCAGA | CA1981488053 | DHCR7 | c.854_857delinsTCTG (p.Phe285=) c.680_683delinsTCTG (p.Phe227=) c.905_908delinsTCTG (p.Phe302=) c.890_893delinsTCTG (p.Phe297=) n.894_897delinsTCTG c.269_272delinsTCTG (p.Phe90=) c.758_761delinsTCTG (p.Phe253=) c.221_224delinsTCTG (p.Phe74=) c.104_107delinsTCTG (p.Phe35=) c.210_213delinsTCTG | |
11 | g.71437919A>C | CA381703118 | DHCR7 | c.856T>G (p.Trp286Gly) c.682T>G (p.Trp228Gly) c.907T>G (p.Trp303Gly) c.892T>G (p.Trp298Gly) n.896T>G c.271T>G (p.Trp91Gly) c.760T>G (p.Trp254Gly) c.223T>G (p.Trp75Gly) c.106T>G (p.Trp36Gly) c.212T>G | |
11 | g.71437919A>G | CA381703119 | DHCR7 | c.856T>C (p.Trp286Arg) c.682T>C (p.Trp228Arg) c.907T>C (p.Trp303Arg) c.892T>C (p.Trp298Arg) n.896T>C c.271T>C (p.Trp91Arg) c.760T>C (p.Trp254Arg) c.223T>C (p.Trp75Arg) c.106T>C (p.Trp36Arg) c.212T>C | |
11 | g.71437919A>T | CA381703120 | DHCR7 | c.856T>A (p.Trp286Arg) c.682T>A (p.Trp228Arg) c.907T>A (p.Trp303Arg) c.892T>A (p.Trp298Arg) n.896T>A c.271T>A (p.Trp91Arg) c.760T>A (p.Trp254Arg) c.223T>A (p.Trp75Arg) c.106T>A (p.Trp36Arg) c.212T>A | |
11 | g.71437924_71437926del | CA600051913 | DHCR7 | c.854_856del (p.Phe285del) c.680_682del (p.Phe227del) c.905_907del (p.Phe302del) c.890_892del (p.Phe297del) n.894_896del c.269_271del (p.Phe90del) c.758_760del (p.Phe253del) c.221_223del (p.Phe74del) c.104_106del (p.Phe35del) c.210_212del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71437920G>A | CA6162415 | DHCR7 | c.855C>T (p.Phe285=) c.681C>T (p.Phe227=) c.906C>T (p.Phe302=) c.891C>T (p.Phe297=) n.895C>T c.270C>T (p.Phe90=) c.759C>T (p.Phe253=) c.222C>T (p.Phe74=) c.105C>T (p.Phe35=) c.211C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71437920G>C | CA381703121 | DHCR7 | c.855C>G (p.Phe285Leu) c.681C>G (p.Phe227Leu) c.906C>G (p.Phe302Leu) c.891C>G (p.Phe297Leu) n.895C>G c.270C>G (p.Phe90Leu) c.759C>G (p.Phe253Leu) c.222C>G (p.Phe74Leu) c.105C>G (p.Phe35Leu) c.211C>G | |
11 | g.71437920G= | CA1981488054 | DHCR7 | c.855C= (p.Phe285=) c.681C= (p.Phe227=) c.906C= (p.Phe302=) c.891C= (p.Phe297=) n.895C= c.270C= (p.Phe90=) c.759C= (p.Phe253=) c.222C= (p.Phe74=) c.105C= (p.Phe35=) c.211C= | |
11 | g.71437920G>T | CA381703122 | DHCR7 | c.855C>A (p.Phe285Leu) c.681C>A (p.Phe227Leu) c.906C>A (p.Phe302Leu) c.891C>A (p.Phe297Leu) n.895C>A c.270C>A (p.Phe90Leu) c.759C>A (p.Phe253Leu) c.222C>A (p.Phe74Leu) c.105C>A (p.Phe35Leu) c.211C>A | gnomAD v4 |
11 | g.71437921A>C | CA381703123 | DHCR7 | c.854T>G (p.Phe285Cys) c.680T>G (p.Phe227Cys) c.905T>G (p.Phe302Cys) c.890T>G (p.Phe297Cys) n.894T>G c.269T>G (p.Phe90Cys) c.758T>G (p.Phe253Cys) c.221T>G (p.Phe74Cys) c.104T>G (p.Phe35Cys) c.210T>G | |
11 | g.71437921A>G | CA381703124 | DHCR7 | c.854T>C (p.Phe285Ser) c.680T>C (p.Phe227Ser) c.905T>C (p.Phe302Ser) c.890T>C (p.Phe297Ser) n.894T>C c.269T>C (p.Phe90Ser) c.758T>C (p.Phe253Ser) c.221T>C (p.Phe74Ser) c.104T>C (p.Phe35Ser) c.210T>C | gnomAD v4 |
11 | g.71437921A>T | CA381703125 | DHCR7 | c.854T>A (p.Phe285Tyr) c.680T>A (p.Phe227Tyr) c.905T>A (p.Phe302Tyr) c.890T>A (p.Phe297Tyr) n.894T>A c.269T>A (p.Phe90Tyr) c.758T>A (p.Phe253Tyr) c.221T>A (p.Phe74Tyr) c.104T>A (p.Phe35Tyr) c.210T>A | |
11 | g.71437922A>C | CA381703126 | DHCR7 | c.853T>G (p.Phe285Val) c.679T>G (p.Phe227Val) c.904T>G (p.Phe302Val) c.889T>G (p.Phe297Val) n.893T>G c.268T>G (p.Phe90Val) c.757T>G (p.Phe253Val) c.220T>G (p.Phe74Val) c.103T>G (p.Phe35Val) c.209T>G | |
11 | g.71437922A>G | CA381703127 | DHCR7 | c.853T>C (p.Phe285Leu) c.679T>C (p.Phe227Leu) c.904T>C (p.Phe302Leu) c.889T>C (p.Phe297Leu) n.893T>C c.268T>C (p.Phe90Leu) c.757T>C (p.Phe253Leu) c.220T>C (p.Phe74Leu) c.103T>C (p.Phe35Leu) c.209T>C | |
11 | g.71437922A>T | CA381703128 | DHCR7 | c.853T>A (p.Phe285Ile) c.679T>A (p.Phe227Ile) c.904T>A (p.Phe302Ile) c.889T>A (p.Phe297Ile) n.893T>A c.268T>A (p.Phe90Ile) c.757T>A (p.Phe253Ile) c.220T>A (p.Phe74Ile) c.103T>A (p.Phe35Ile) c.209T>A | |
11 | g.71437922_71437926dup | CA2695212797 | DHCR7 | c.849_853dup (p.Phe285SerfsTer10) c.675_679dup (p.Phe227SerfsTer10) c.900_904dup (p.Phe302SerfsTer10) c.885_889dup (p.Phe297SerfsTer10) n.889_893dup c.264_268dup (p.Phe90SerfsTer10) c.753_757dup (p.Phe253SerfsTer10) c.216_220dup (p.Phe74SerfsTer10) c.753_757dup (p.Phe253SerfsTer?) c.99_103dup (p.Phe35SerfsTer10) c.205_209dup | |
11 | g.71437923G>A | CA475567800 | DHCR7 | c.852C>T (p.Phe284=) c.678C>T (p.Phe226=) c.903C>T (p.Phe301=) c.888C>T (p.Phe296=) n.892C>T c.267C>T (p.Phe89=) c.756C>T (p.Phe252=) c.219C>T (p.Phe73=) c.102C>T (p.Phe34=) c.208C>T | |
11 | g.71437923G>C | CA381703129 | DHCR7 | c.852C>G (p.Phe284Leu) c.678C>G (p.Phe226Leu) c.903C>G (p.Phe301Leu) c.888C>G (p.Phe296Leu) n.892C>G c.267C>G (p.Phe89Leu) c.756C>G (p.Phe252Leu) c.219C>G (p.Phe73Leu) c.102C>G (p.Phe34Leu) c.208C>G | |
11 | g.71437923G= | CA1981488055 | DHCR7 | c.852C= (p.Phe284=) c.678C= (p.Phe226=) c.903C= (p.Phe301=) c.888C= (p.Phe296=) n.892C= c.267C= (p.Phe89=) c.756C= (p.Phe252=) c.219C= (p.Phe73=) c.102C= (p.Phe34=) c.208C= | |
11 | g.71437923G>T | CA224326709 | DHCR7 | c.852C>A (p.Phe284Leu) c.678C>A (p.Phe226Leu) c.903C>A (p.Phe301Leu) c.888C>A (p.Phe296Leu) n.892C>A c.267C>A (p.Phe89Leu) c.756C>A (p.Phe252Leu) c.219C>A (p.Phe73Leu) c.102C>A (p.Phe34Leu) c.208C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.71437924A>C | CA381703130 | DHCR7 | c.851T>G (p.Phe284Cys) c.677T>G (p.Phe226Cys) c.902T>G (p.Phe301Cys) c.887T>G (p.Phe296Cys) n.891T>G c.266T>G (p.Phe89Cys) c.755T>G (p.Phe252Cys) c.218T>G (p.Phe73Cys) c.101T>G (p.Phe34Cys) c.207T>G | |
11 | g.71437924A>G | CA381703131 | DHCR7 | c.851T>C (p.Phe284Ser) c.677T>C (p.Phe226Ser) c.902T>C (p.Phe301Ser) c.887T>C (p.Phe296Ser) n.891T>C c.266T>C (p.Phe89Ser) c.755T>C (p.Phe252Ser) c.218T>C (p.Phe73Ser) c.101T>C (p.Phe34Ser) c.207T>C | |
11 | g.71437924A>T | CA381703132 | DHCR7 | c.851T>A (p.Phe284Tyr) c.677T>A (p.Phe226Tyr) c.902T>A (p.Phe301Tyr) c.887T>A (p.Phe296Tyr) n.891T>A c.266T>A (p.Phe89Tyr) c.755T>A (p.Phe252Tyr) c.218T>A (p.Phe73Tyr) c.101T>A (p.Phe34Tyr) c.207T>A | gnomAD v4 |
11 | g.71437925A>C | CA381703135 | DHCR7 | c.850T>G (p.Phe284Val) c.676T>G (p.Phe226Val) c.901T>G (p.Phe301Val) c.886T>G (p.Phe296Val) n.890T>G c.265T>G (p.Phe89Val) c.754T>G (p.Phe252Val) c.217T>G (p.Phe73Val) c.100T>G (p.Phe34Val) c.206T>G | gnomAD v4 |
11 | g.71437925A>G | CA381703134 | DHCR7 | c.850T>C (p.Phe284Leu) c.676T>C (p.Phe226Leu) c.901T>C (p.Phe301Leu) c.886T>C (p.Phe296Leu) n.890T>C c.265T>C (p.Phe89Leu) c.754T>C (p.Phe252Leu) c.217T>C (p.Phe73Leu) c.100T>C (p.Phe34Leu) c.206T>C | |
11 | g.71437925A>T | CA381703133 | DHCR7 | c.850T>A (p.Phe284Ile) c.676T>A (p.Phe226Ile) c.901T>A (p.Phe301Ile) c.886T>A (p.Phe296Ile) n.890T>A c.265T>A (p.Phe89Ile) c.754T>A (p.Phe252Ile) c.217T>A (p.Phe73Ile) c.100T>A (p.Phe34Ile) c.206T>A | |
11 | g.71437926G>A | CA475567816 | DHCR7 | c.849C>T (p.Asp283=) c.675C>T (p.Asp225=) c.900C>T (p.Asp300=) c.885C>T (p.Asp295=) n.889C>T c.264C>T (p.Asp88=) c.753C>T (p.Asp251=) c.216C>T (p.Asp72=) c.99C>T (p.Asp33=) c.205C>T | ClinVar |
11 | g.71437926G>C | CA381703136 | DHCR7 | c.849C>G (p.Asp283Glu) c.675C>G (p.Asp225Glu) c.900C>G (p.Asp300Glu) c.885C>G (p.Asp295Glu) n.889C>G c.264C>G (p.Asp88Glu) c.753C>G (p.Asp251Glu) c.216C>G (p.Asp72Glu) c.99C>G (p.Asp33Glu) c.205C>G | |
11 | g.71437926G>T | CA381703137 | DHCR7 | c.849C>A (p.Asp283Glu) c.675C>A (p.Asp225Glu) c.900C>A (p.Asp300Glu) c.885C>A (p.Asp295Glu) n.889C>A c.264C>A (p.Asp88Glu) c.753C>A (p.Asp251Glu) c.216C>A (p.Asp72Glu) c.99C>A (p.Asp33Glu) c.205C>A | |
11 | g.71437927T>A | CA381703138 | DHCR7 | c.848A>T (p.Asp283Val) c.674A>T (p.Asp225Val) c.899A>T (p.Asp300Val) c.884A>T (p.Asp295Val) n.888A>T c.263A>T (p.Asp88Val) c.752A>T (p.Asp251Val) c.215A>T (p.Asp72Val) c.98A>T (p.Asp33Val) c.204A>T | |
11 | g.71437927T>C | CA381703140 | DHCR7 | c.848A>G (p.Asp283Gly) c.674A>G (p.Asp225Gly) c.899A>G (p.Asp300Gly) c.884A>G (p.Asp295Gly) n.888A>G c.263A>G (p.Asp88Gly) c.752A>G (p.Asp251Gly) c.215A>G (p.Asp72Gly) c.98A>G (p.Asp33Gly) c.204A>G | |
11 | g.71437927T>G | CA381703139 | DHCR7 | c.848A>C (p.Asp283Ala) c.674A>C (p.Asp225Ala) c.899A>C (p.Asp300Ala) c.884A>C (p.Asp295Ala) n.888A>C c.263A>C (p.Asp88Ala) c.752A>C (p.Asp251Ala) c.215A>C (p.Asp72Ala) c.98A>C (p.Asp33Ala) c.204A>C | gnomAD v4 |
11 | g.71437928C>A | CA381703141 | DHCR7 | c.847G>T (p.Asp283Tyr) c.673G>T (p.Asp225Tyr) c.898G>T (p.Asp300Tyr) c.883G>T (p.Asp295Tyr) n.887G>T c.262G>T (p.Asp88Tyr) c.751G>T (p.Asp251Tyr) c.214G>T (p.Asp72Tyr) c.97G>T (p.Asp33Tyr) c.203G>T | |
11 | g.71437928C>G | CA381703142 | DHCR7 | c.847G>C (p.Asp283His) c.673G>C (p.Asp225His) c.898G>C (p.Asp300His) c.883G>C (p.Asp295His) n.887G>C c.262G>C (p.Asp88His) c.751G>C (p.Asp251His) c.214G>C (p.Asp72His) c.97G>C (p.Asp33His) c.203G>C | |
11 | g.71437928C>T | CA381703143 | DHCR7 | c.847G>A (p.Asp283Asn) c.673G>A (p.Asp225Asn) c.898G>A (p.Asp300Asn) c.883G>A (p.Asp295Asn) n.887G>A c.262G>A (p.Asp88Asn) c.751G>A (p.Asp251Asn) c.214G>A (p.Asp72Asn) c.97G>A (p.Asp33Asn) c.203G>A | |
11 | g.71437929A= | CA1981488056 | DHCR7 | c.846T= (p.Ile282=) c.672T= (p.Ile224=) c.897T= (p.Ile299=) c.882T= (p.Ile294=) n.886T= c.261T= (p.Ile87=) c.750T= (p.Ile250=) c.213T= (p.Ile71=) c.96T= (p.Ile32=) c.202T= | |
11 | g.71437929A>C | CA381703144 | DHCR7 | c.846T>G (p.Ile282Met) c.672T>G (p.Ile224Met) c.897T>G (p.Ile299Met) c.882T>G (p.Ile294Met) n.886T>G c.261T>G (p.Ile87Met) c.750T>G (p.Ile250Met) c.213T>G (p.Ile71Met) c.96T>G (p.Ile32Met) c.202T>G | dbSNP |
11 | g.71437929A>G | CA475567836 | DHCR7 | c.846T>C (p.Ile282=) c.672T>C (p.Ile224=) c.897T>C (p.Ile299=) c.882T>C (p.Ile294=) n.886T>C c.261T>C (p.Ile87=) c.750T>C (p.Ile250=) c.213T>C (p.Ile71=) c.96T>C (p.Ile32=) c.202T>C | gnomAD v4 |
11 | g.71437929A>T | CA475567839 | DHCR7 | c.846T>A (p.Ile282=) c.672T>A (p.Ile224=) c.897T>A (p.Ile299=) c.882T>A (p.Ile294=) n.886T>A c.261T>A (p.Ile87=) c.750T>A (p.Ile250=) c.213T>A (p.Ile71=) c.96T>A (p.Ile32=) c.202T>A | |
11 | g.71437930A>C | CA381703145 | DHCR7 | c.845T>G (p.Ile282Ser) c.671T>G (p.Ile224Ser) c.896T>G (p.Ile299Ser) c.881T>G (p.Ile294Ser) n.885T>G c.260T>G (p.Ile87Ser) c.749T>G (p.Ile250Ser) c.212T>G (p.Ile71Ser) c.95T>G (p.Ile32Ser) c.201T>G | |
11 | g.71437930A>G | CA381703146 | DHCR7 | c.845T>C (p.Ile282Thr) c.671T>C (p.Ile224Thr) c.896T>C (p.Ile299Thr) c.881T>C (p.Ile294Thr) n.885T>C c.260T>C (p.Ile87Thr) c.749T>C (p.Ile250Thr) c.212T>C (p.Ile71Thr) c.95T>C (p.Ile32Thr) c.201T>C | |
11 | g.71437930A>T | CA381703147 | DHCR7 | c.845T>A (p.Ile282Asn) c.671T>A (p.Ile224Asn) c.896T>A (p.Ile299Asn) c.881T>A (p.Ile294Asn) n.885T>A c.260T>A (p.Ile87Asn) c.749T>A (p.Ile250Asn) c.212T>A (p.Ile71Asn) c.95T>A (p.Ile32Asn) c.201T>A | |
11 | g.71437931T>A | CA381703148 | DHCR7 | c.844A>T (p.Ile282Phe) c.670A>T (p.Ile224Phe) c.895A>T (p.Ile299Phe) c.880A>T (p.Ile294Phe) n.884A>T c.259A>T (p.Ile87Phe) c.748A>T (p.Ile250Phe) c.211A>T (p.Ile71Phe) c.94A>T (p.Ile32Phe) c.200A>T | |
11 | g.71437931T>C | CA381703149 | DHCR7 | c.844A>G (p.Ile282Val) c.670A>G (p.Ile224Val) c.895A>G (p.Ile299Val) c.880A>G (p.Ile294Val) n.884A>G c.259A>G (p.Ile87Val) c.748A>G (p.Ile250Val) c.211A>G (p.Ile71Val) c.94A>G (p.Ile32Val) c.200A>G | |
11 | g.71437931T>G | CA381703150 | DHCR7 | c.844A>C (p.Ile282Leu) c.670A>C (p.Ile224Leu) c.895A>C (p.Ile299Leu) c.880A>C (p.Ile294Leu) n.884A>C c.259A>C (p.Ile87Leu) c.748A>C (p.Ile250Leu) c.211A>C (p.Ile71Leu) c.94A>C (p.Ile32Leu) c.200A>C | |
11 | g.71437932C>A | CA475567853 | DHCR7 | c.843G>T (p.Val281=) c.669G>T (p.Val223=) c.894G>T (p.Val298=) c.879G>T (p.Val293=) n.883G>T c.258G>T (p.Val86=) c.747G>T (p.Val249=) c.210G>T (p.Val70=) c.93G>T (p.Val31=) c.199G>T | |
11 | g.71437932C>G | CA475567856 | DHCR7 | c.843G>C (p.Val281=) c.669G>C (p.Val223=) c.894G>C (p.Val298=) c.879G>C (p.Val293=) n.883G>C c.258G>C (p.Val86=) c.747G>C (p.Val249=) c.210G>C (p.Val70=) c.93G>C (p.Val31=) c.199G>C | |
11 | g.71437932C>T | CA475567858 | DHCR7 | c.843G>A (p.Val281=) c.669G>A (p.Val223=) c.894G>A (p.Val298=) c.879G>A (p.Val293=) n.883G>A c.258G>A (p.Val86=) c.747G>A (p.Val249=) c.210G>A (p.Val70=) c.93G>A (p.Val31=) c.199G>A | |
11 | g.71437933A>C | CA381703151 | DHCR7 | c.842T>G (p.Val281Gly) c.668T>G (p.Val223Gly) c.893T>G (p.Val298Gly) c.878T>G (p.Val293Gly) n.882T>G c.257T>G (p.Val86Gly) c.746T>G (p.Val249Gly) c.209T>G (p.Val70Gly) c.92T>G (p.Val31Gly) c.198T>G | |
11 | g.71437933A>G | CA381703152 | DHCR7 | c.842T>C (p.Val281Ala) c.668T>C (p.Val223Ala) c.893T>C (p.Val298Ala) c.878T>C (p.Val293Ala) n.882T>C c.257T>C (p.Val86Ala) c.746T>C (p.Val249Ala) c.209T>C (p.Val70Ala) c.92T>C (p.Val31Ala) c.198T>C | ClinVar |
11 | g.71437933A>T | CA381703153 | DHCR7 | c.842T>A (p.Val281Glu) c.668T>A (p.Val223Glu) c.893T>A (p.Val298Glu) c.878T>A (p.Val293Glu) n.882T>A c.257T>A (p.Val86Glu) c.746T>A (p.Val249Glu) c.209T>A (p.Val70Glu) c.92T>A (p.Val31Glu) c.198T>A | |
11 | g.71437934C>A | CA381703154 | DHCR7 | c.841G>T (p.Val281Leu) c.667G>T (p.Val223Leu) c.892G>T (p.Val298Leu) c.877G>T (p.Val293Leu) n.881G>T c.256G>T (p.Val86Leu) c.745G>T (p.Val249Leu) c.208G>T (p.Val70Leu) c.91G>T (p.Val31Leu) c.197G>T | |
11 | g.71437934C= | CA1981488057 | DHCR7 | c.841G= (p.Val281=) c.667G= (p.Val223=) c.892G= (p.Val298=) c.877G= (p.Val293=) n.881G= c.256G= (p.Val86=) c.745G= (p.Val249=) c.208G= (p.Val70=) c.91G= (p.Val31=) c.197G= | |
11 | g.71437934C>G | CA381703155 | DHCR7 | c.841G>C (p.Val281Leu) c.667G>C (p.Val223Leu) c.892G>C (p.Val298Leu) c.877G>C (p.Val293Leu) n.881G>C c.256G>C (p.Val86Leu) c.745G>C (p.Val249Leu) c.208G>C (p.Val70Leu) c.91G>C (p.Val31Leu) c.197G>C | |
11 | g.71437934C>T | CA221680 | DHCR7 | c.841G>A (p.Val281Met) c.667G>A (p.Val223Met) c.892G>A (p.Val298Met) c.877G>A (p.Val293Met) n.881G>A c.256G>A (p.Val86Met) c.745G>A (p.Val249Met) c.208G>A (p.Val70Met) c.91G>A (p.Val31Met) c.197G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71437935G>A | CA6162416 | DHCR7 | c.840C>T (p.Tyr280=) c.666C>T (p.Tyr222=) c.891C>T (p.Tyr297=) c.876C>T (p.Tyr292=) n.880C>T c.255C>T (p.Tyr85=) c.744C>T (p.Tyr248=) c.207C>T (p.Tyr69=) c.90C>T (p.Tyr30=) c.196C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71437935G>C | CA381703156 | DHCR7 | c.840C>G (p.Tyr280Ter) c.666C>G (p.Tyr222Ter) c.891C>G (p.Tyr297Ter) c.876C>G (p.Tyr292Ter) n.880C>G c.255C>G (p.Tyr85Ter) c.744C>G (p.Tyr248Ter) c.207C>G (p.Tyr69Ter) c.90C>G (p.Tyr30Ter) c.196C>G | |
11 | g.71437935G= | CA1981488058 | DHCR7 | c.840C= (p.Tyr280=) c.666C= (p.Tyr222=) c.891C= (p.Tyr297=) c.876C= (p.Tyr292=) n.880C= c.255C= (p.Tyr85=) c.744C= (p.Tyr248=) c.207C= (p.Tyr69=) c.90C= (p.Tyr30=) c.196C= | |
11 | g.71437935G>T | CA381703157 | DHCR7 | c.840C>A (p.Tyr280Ter) c.666C>A (p.Tyr222Ter) c.891C>A (p.Tyr297Ter) c.876C>A (p.Tyr292Ter) n.880C>A c.255C>A (p.Tyr85Ter) c.744C>A (p.Tyr248Ter) c.207C>A (p.Tyr69Ter) c.90C>A (p.Tyr30Ter) c.196C>A | dbSNP gnomAD v2 |
11 | g.71437936T>A | CA381703158 | DHCR7 | c.839A>T (p.Tyr280Phe) c.665A>T (p.Tyr222Phe) c.890A>T (p.Tyr297Phe) c.875A>T (p.Tyr292Phe) n.879A>T c.254A>T (p.Tyr85Phe) c.743A>T (p.Tyr248Phe) c.206A>T (p.Tyr69Phe) c.89A>T (p.Tyr30Phe) c.195A>T | |
11 | g.71437936T>C | CA253949 | DHCR7 | c.839A>G (p.Tyr280Cys) c.665A>G (p.Tyr222Cys) c.890A>G (p.Tyr297Cys) c.875A>G (p.Tyr292Cys) n.879A>G c.254A>G (p.Tyr85Cys) c.743A>G (p.Tyr248Cys) c.206A>G (p.Tyr69Cys) c.89A>G (p.Tyr30Cys) c.195A>G | ClinVar dbSNP |
11 | g.71437936T>G | CA381703159 | DHCR7 | c.839A>C (p.Tyr280Ser) c.665A>C (p.Tyr222Ser) c.890A>C (p.Tyr297Ser) c.875A>C (p.Tyr292Ser) n.879A>C c.254A>C (p.Tyr85Ser) c.743A>C (p.Tyr248Ser) c.206A>C (p.Tyr69Ser) c.89A>C (p.Tyr30Ser) c.195A>C | |
11 | g.71437936T= | CA1981488059 | DHCR7 | c.839A= (p.Tyr280=) c.665A= (p.Tyr222=) c.890A= (p.Tyr297=) c.875A= (p.Tyr292=) n.879A= c.254A= (p.Tyr85=) c.743A= (p.Tyr248=) c.206A= (p.Tyr69=) c.89A= (p.Tyr30=) c.195A= | |
11 | g.71437937A>C | CA381703160 | DHCR7 | c.838T>G (p.Tyr280Asp) c.664T>G (p.Tyr222Asp) c.889T>G (p.Tyr297Asp) c.874T>G (p.Tyr292Asp) n.878T>G c.253T>G (p.Tyr85Asp) c.742T>G (p.Tyr248Asp) c.205T>G (p.Tyr69Asp) c.88T>G (p.Tyr30Asp) c.194T>G | ClinVar |
11 | g.71437937A>G | CA381703161 | DHCR7 | c.838T>C (p.Tyr280His) c.664T>C (p.Tyr222His) c.889T>C (p.Tyr297His) c.874T>C (p.Tyr292His) n.878T>C c.253T>C (p.Tyr85His) c.742T>C (p.Tyr248His) c.205T>C (p.Tyr69His) c.88T>C (p.Tyr30His) c.194T>C | |
11 | g.71437937A>T | CA381703162 | DHCR7 | c.838T>A (p.Tyr280Asn) c.664T>A (p.Tyr222Asn) c.889T>A (p.Tyr297Asn) c.874T>A (p.Tyr292Asn) n.878T>A c.253T>A (p.Tyr85Asn) c.742T>A (p.Tyr248Asn) c.205T>A (p.Tyr69Asn) c.88T>A (p.Tyr30Asn) c.194T>A | |
11 | g.71437938G>A | CA475567901 | DHCR7 | c.837C>T (p.Ile279=) c.663C>T (p.Ile221=) c.888C>T (p.Ile296=) c.873C>T (p.Ile291=) n.877C>T c.252C>T (p.Ile84=) c.741C>T (p.Ile247=) c.204C>T (p.Ile68=) c.87C>T (p.Ile29=) c.193C>T | ClinVar dbSNP gnomAD v4 |
11 | g.71437938G>C | CA381703163 | DHCR7 | c.837C>G (p.Ile279Met) c.663C>G (p.Ile221Met) c.888C>G (p.Ile296Met) c.873C>G (p.Ile291Met) n.877C>G c.252C>G (p.Ile84Met) c.741C>G (p.Ile247Met) c.204C>G (p.Ile68Met) c.87C>G (p.Ile29Met) c.193C>G | |
11 | g.71437938G= | CA1981488060 | DHCR7 | c.837C= (p.Ile279=) c.663C= (p.Ile221=) c.888C= (p.Ile296=) c.873C= (p.Ile291=) n.877C= c.252C= (p.Ile84=) c.741C= (p.Ile247=) c.204C= (p.Ile68=) c.87C= (p.Ile29=) c.193C= | |
11 | g.71437938G>T | CA475567905 | DHCR7 | c.837C>A (p.Ile279=) c.663C>A (p.Ile221=) c.888C>A (p.Ile296=) c.873C>A (p.Ile291=) n.877C>A c.252C>A (p.Ile84=) c.741C>A (p.Ile247=) c.204C>A (p.Ile68=) c.87C>A (p.Ile29=) c.193C>A | |
11 | g.71437939A= | CA1981488061 | DHCR7 | c.836T= (p.Ile279=) c.662T= (p.Ile221=) c.887T= (p.Ile296=) c.872T= (p.Ile291=) n.876T= c.251T= (p.Ile84=) c.740T= (p.Ile247=) c.203T= (p.Ile68=) c.86T= (p.Ile29=) c.192T= | |
11 | g.71437939A>C | CA381703166 | DHCR7 | c.836T>G (p.Ile279Ser) c.662T>G (p.Ile221Ser) c.887T>G (p.Ile296Ser) c.872T>G (p.Ile291Ser) n.876T>G c.251T>G (p.Ile84Ser) c.740T>G (p.Ile247Ser) c.203T>G (p.Ile68Ser) c.86T>G (p.Ile29Ser) c.192T>G | |
11 | g.71437939A>G | CA381703165 | DHCR7 | c.836T>C (p.Ile279Thr) c.662T>C (p.Ile221Thr) c.887T>C (p.Ile296Thr) c.872T>C (p.Ile291Thr) n.876T>C c.251T>C (p.Ile84Thr) c.740T>C (p.Ile247Thr) c.203T>C (p.Ile68Thr) c.86T>C (p.Ile29Thr) c.192T>C | dbSNP |
11 | g.71437939A>T | CA381703164 | DHCR7 | c.836T>A (p.Ile279Asn) c.662T>A (p.Ile221Asn) c.887T>A (p.Ile296Asn) c.872T>A (p.Ile291Asn) n.876T>A c.251T>A (p.Ile84Asn) c.740T>A (p.Ile247Asn) c.203T>A (p.Ile68Asn) c.86T>A (p.Ile29Asn) c.192T>A | |
11 | g.71437940T>A | CA381703167 | DHCR7 | c.835A>T (p.Ile279Phe) c.661A>T (p.Ile221Phe) c.886A>T (p.Ile296Phe) c.871A>T (p.Ile291Phe) n.875A>T c.250A>T (p.Ile84Phe) c.739A>T (p.Ile247Phe) c.202A>T (p.Ile68Phe) c.85A>T (p.Ile29Phe) c.191A>T | |
11 | g.71437940T>C | CA6162417 | DHCR7 | c.835A>G (p.Ile279Val) c.661A>G (p.Ile221Val) c.886A>G (p.Ile296Val) c.871A>G (p.Ile291Val) n.875A>G c.250A>G (p.Ile84Val) c.739A>G (p.Ile247Val) c.202A>G (p.Ile68Val) c.85A>G (p.Ile29Val) c.191A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71437940T>G | CA381703168 | DHCR7 | c.835A>C (p.Ile279Leu) c.661A>C (p.Ile221Leu) c.886A>C (p.Ile296Leu) c.871A>C (p.Ile291Leu) n.875A>C c.250A>C (p.Ile84Leu) c.739A>C (p.Ile247Leu) c.202A>C (p.Ile68Leu) c.85A>C (p.Ile29Leu) c.191A>C | |
11 | g.71437940T= | CA1981488062 | DHCR7 | c.835A= (p.Ile279=) c.661A= (p.Ile221=) c.886A= (p.Ile296=) c.871A= (p.Ile291=) n.875A= c.250A= (p.Ile84=) c.739A= (p.Ile247=) c.202A= (p.Ile68=) c.85A= (p.Ile29=) c.191A= | |
11 | g.71437941G>A | CA475567920 | DHCR7 | c.834C>T (p.Ala278=) c.660C>T (p.Ala220=) c.885C>T (p.Ala295=) c.870C>T (p.Ala290=) n.874C>T c.249C>T (p.Ala83=) c.738C>T (p.Ala246=) c.201C>T (p.Ala67=) c.84C>T (p.Ala28=) c.190C>T | |
11 | g.71437941G>C | CA475567926 | DHCR7 | c.834C>G (p.Ala278=) c.660C>G (p.Ala220=) c.885C>G (p.Ala295=) c.870C>G (p.Ala290=) n.874C>G c.249C>G (p.Ala83=) c.738C>G (p.Ala246=) c.201C>G (p.Ala67=) c.84C>G (p.Ala28=) c.190C>G | |
11 | g.71437941G>T | CA475567923 | DHCR7 | c.834C>A (p.Ala278=) c.660C>A (p.Ala220=) c.885C>A (p.Ala295=) c.870C>A (p.Ala290=) n.874C>A c.249C>A (p.Ala83=) c.738C>A (p.Ala246=) c.201C>A (p.Ala67=) c.84C>A (p.Ala28=) c.190C>A | |
11 | g.71437942G>A | CA381703169 | DHCR7 | c.833C>T (p.Ala278Val) c.659C>T (p.Ala220Val) c.884C>T (p.Ala295Val) c.869C>T (p.Ala290Val) n.873C>T c.248C>T (p.Ala83Val) c.737C>T (p.Ala246Val) c.200C>T (p.Ala67Val) c.83C>T (p.Ala28Val) c.189C>T | dbSNP gnomAD v2 gnomAD v4 |
11 | g.71437942G>C | CA381703170 | DHCR7 | c.833C>G (p.Ala278Gly) c.659C>G (p.Ala220Gly) c.884C>G (p.Ala295Gly) c.869C>G (p.Ala290Gly) n.873C>G c.248C>G (p.Ala83Gly) c.737C>G (p.Ala246Gly) c.200C>G (p.Ala67Gly) c.83C>G (p.Ala28Gly) c.189C>G | |
11 | g.71437942G= | CA1981488063 | DHCR7 | c.833C= (p.Ala278=) c.659C= (p.Ala220=) c.884C= (p.Ala295=) c.869C= (p.Ala290=) n.873C= c.248C= (p.Ala83=) c.737C= (p.Ala246=) c.200C= (p.Ala67=) c.83C= (p.Ala28=) c.189C= | |
11 | g.71437942G>T | CA381703171 | DHCR7 | c.833C>A (p.Ala278Asp) c.659C>A (p.Ala220Asp) c.884C>A (p.Ala295Asp) c.869C>A (p.Ala290Asp) n.873C>A c.248C>A (p.Ala83Asp) c.737C>A (p.Ala246Asp) c.200C>A (p.Ala67Asp) c.83C>A (p.Ala28Asp) c.189C>A | |
11 | g.71437943C>A | CA381703172 | DHCR7 | c.832G>T (p.Ala278Ser) c.658G>T (p.Ala220Ser) c.883G>T (p.Ala295Ser) c.868G>T (p.Ala290Ser) n.872G>T c.247G>T (p.Ala83Ser) c.736G>T (p.Ala246Ser) c.199G>T (p.Ala67Ser) c.82G>T (p.Ala28Ser) c.188G>T | |
11 | g.71437943C>G | CA381703173 | DHCR7 | c.832G>C (p.Ala278Pro) c.658G>C (p.Ala220Pro) c.883G>C (p.Ala295Pro) c.868G>C (p.Ala290Pro) n.872G>C c.247G>C (p.Ala83Pro) c.736G>C (p.Ala246Pro) c.199G>C (p.Ala67Pro) c.82G>C (p.Ala28Pro) c.188G>C | ClinVar dbSNP |
11 | g.71437943C>T | CA381703174 | DHCR7 | c.832G>A (p.Ala278Thr) c.658G>A (p.Ala220Thr) c.883G>A (p.Ala295Thr) c.868G>A (p.Ala290Thr) n.872G>A c.247G>A (p.Ala83Thr) c.736G>A (p.Ala246Thr) c.199G>A (p.Ala67Thr) c.82G>A (p.Ala28Thr) c.188G>A | gnomAD v4 |
11 | g.71437944C>A | CA381703175 | DHCR7 | c.832-1G>T (n.832-1G>T) c.658-1G>T (n.658-1G>T) c.883-1G>T (n.883-1G>T) c.868-1G>T (n.868-1G>T) n.872-1G>T c.247-1G>T (n.247-1G>T) c.736-1G>T (n.736-1G>T) c.199-1G>T (n.199-1G>T) c.82-1G>T (n.82-1G>T) c.188-1G>T | gnomAD v4 |
11 | g.71437944C= | CA1981488064 | DHCR7 | c.832-1G= (n.832-1G=) c.658-1G= (n.658-1G=) c.883-1G= (n.883-1G=) c.868-1G= (n.868-1G=) n.872-1G= c.247-1G= (n.247-1G=) c.736-1G= (n.736-1G=) c.199-1G= (n.199-1G=) c.82-1G= (n.82-1G=) c.188-1G= | |
11 | g.71437944C>G | CA340608 | DHCR7 | c.832-1G>C (n.832-1G>C) c.658-1G>C (n.658-1G>C) c.883-1G>C (n.883-1G>C) c.868-1G>C (n.868-1G>C) n.872-1G>C c.247-1G>C (n.247-1G>C) c.736-1G>C (n.736-1G>C) c.199-1G>C (n.199-1G>C) c.82-1G>C (n.82-1G>C) c.188-1G>C | ClinVar dbSNP |
11 | g.71437944C>T | CA381703176 | DHCR7 | c.832-1G>A (n.832-1G>A) c.658-1G>A (n.658-1G>A) c.883-1G>A (n.883-1G>A) c.868-1G>A (n.868-1G>A) n.872-1G>A c.247-1G>A (n.247-1G>A) c.736-1G>A (n.736-1G>A) c.199-1G>A (n.199-1G>A) c.82-1G>A (n.82-1G>A) c.188-1G>A | dbSNP gnomAD v3 gnomAD v4 |
11 | g.71437945T>A | CA381703179 | DHCR7 | c.832-2A>T (n.832-2A>T) c.658-2A>T (n.658-2A>T) c.883-2A>T (n.883-2A>T) c.868-2A>T (n.868-2A>T) n.872-2A>T c.247-2A>T (n.247-2A>T) c.736-2A>T (n.736-2A>T) c.199-2A>T (n.199-2A>T) c.82-2A>T (n.82-2A>T) c.188-2A>T | |
11 | g.71437945T>C | CA381703178 | DHCR7 | c.832-2A>G (n.832-2A>G) c.658-2A>G (n.658-2A>G) c.883-2A>G (n.883-2A>G) c.868-2A>G (n.868-2A>G) n.872-2A>G c.247-2A>G (n.247-2A>G) c.736-2A>G (n.736-2A>G) c.199-2A>G (n.199-2A>G) c.82-2A>G (n.82-2A>G) c.188-2A>G | |
11 | g.71437945T>G | CA381703177 | DHCR7 | c.832-2A>C (n.832-2A>C) c.658-2A>C (n.658-2A>C) c.883-2A>C (n.883-2A>C) c.868-2A>C (n.868-2A>C) n.872-2A>C c.247-2A>C (n.247-2A>C) c.736-2A>C (n.736-2A>C) c.199-2A>C (n.199-2A>C) c.82-2A>C (n.82-2A>C) c.188-2A>C | |
11 | g.71437946G>A | CA600051919 | DHCR7 | c.832-3C>T (n.832-3C>T) c.658-3C>T (n.658-3C>T) c.883-3C>T (n.883-3C>T) c.868-3C>T (n.868-3C>T) n.872-3C>T c.247-3C>T (n.247-3C>T) c.736-3C>T (n.736-3C>T) c.199-3C>T (n.199-3C>T) c.82-3C>T (n.82-3C>T) c.188-3C>T | dbSNP gnomAD v2 |
11 | g.71437946G= | CA1981488065 | DHCR7 | c.832-3C= (n.832-3C=) c.658-3C= (n.658-3C=) c.883-3C= (n.883-3C=) c.868-3C= (n.868-3C=) n.872-3C= c.247-3C= (n.247-3C=) c.736-3C= (n.736-3C=) c.199-3C= (n.199-3C=) c.82-3C= (n.82-3C=) c.188-3C= | |
11 | g.71437946G>T | CA2614858517 | DHCR7 | c.832-3C>A (n.832-3C>A) c.658-3C>A (n.658-3C>A) c.883-3C>A (n.883-3C>A) c.868-3C>A (n.868-3C>A) n.872-3C>A c.247-3C>A (n.247-3C>A) c.736-3C>A (n.736-3C>A) c.199-3C>A (n.199-3C>A) c.82-3C>A (n.82-3C>A) c.188-3C>A | gnomAD v4 |
11 | g.71437947C>A | CA2499221288 | DHCR7 | c.832-4G>T (n.832-4G>T) c.658-4G>T (n.658-4G>T) c.883-4G>T (n.883-4G>T) c.868-4G>T (n.868-4G>T) n.872-4G>T c.247-4G>T (n.247-4G>T) c.736-4G>T (n.736-4G>T) c.199-4G>T (n.199-4G>T) c.82-4G>T (n.82-4G>T) c.188-4G>T | ClinVar dbSNP |
11 | g.71437947C= | CA1981488066 | DHCR7 | c.832-4G= (n.832-4G=) c.658-4G= (n.658-4G=) c.883-4G= (n.883-4G=) c.868-4G= (n.868-4G=) n.872-4G= c.247-4G= (n.247-4G=) c.736-4G= (n.736-4G=) c.199-4G= (n.199-4G=) c.82-4G= (n.82-4G=) c.188-4G= | |
11 | g.71437947C>T | CA6162418 | DHCR7 | c.832-4G>A (n.832-4G>A) c.658-4G>A (n.658-4G>A) c.883-4G>A (n.883-4G>A) c.868-4G>A (n.868-4G>A) n.872-4G>A c.247-4G>A (n.247-4G>A) c.736-4G>A (n.736-4G>A) c.199-4G>A (n.199-4G>A) c.82-4G>A (n.82-4G>A) c.188-4G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.71437949A>C | CA2724529515 | DHCR7 | c.832-6T>G (n.832-6T>G) c.658-6T>G (n.658-6T>G) c.883-6T>G (n.883-6T>G) c.868-6T>G (n.868-6T>G) n.872-6T>G c.247-6T>G (n.247-6T>G) c.736-6T>G (n.736-6T>G) c.199-6T>G (n.199-6T>G) c.82-6T>G (n.82-6T>G) c.188-6T>G | dbSNP |
11 | g.71437950G>A | CA1981488068 | DHCR7 | c.832-7C>T (n.832-7C>T) c.658-7C>T (n.658-7C>T) c.883-7C>T (n.883-7C>T) c.868-7C>T (n.868-7C>T) n.872-7C>T c.247-7C>T (n.247-7C>T) c.736-7C>T (n.736-7C>T) c.199-7C>T (n.199-7C>T) c.82-7C>T (n.82-7C>T) c.188-7C>T | ClinVar dbSNP gnomAD v4 |
11 | g.71437950G>C | CA2573147611 | DHCR7 | c.832-7C>G (n.832-7C>G) c.658-7C>G (n.658-7C>G) c.883-7C>G (n.883-7C>G) c.868-7C>G (n.868-7C>G) n.872-7C>G c.247-7C>G (n.247-7C>G) c.736-7C>G (n.736-7C>G) c.199-7C>G (n.199-7C>G) c.82-7C>G (n.82-7C>G) c.188-7C>G | ClinVar dbSNP gnomAD v4 |
11 | g.71437950G= | CA1981488067 | DHCR7 | c.832-7C= (n.832-7C=) c.658-7C= (n.658-7C=) c.883-7C= (n.883-7C=) c.868-7C= (n.868-7C=) n.872-7C= c.247-7C= (n.247-7C=) c.736-7C= (n.736-7C=) c.199-7C= (n.199-7C=) c.82-7C= (n.82-7C=) c.188-7C= | |
11 | g.71437950G>T | CA6162419 | DHCR7 | c.832-7C>A (n.832-7C>A) c.658-7C>A (n.658-7C>A) c.883-7C>A (n.883-7C>A) c.868-7C>A (n.868-7C>A) n.872-7C>A c.247-7C>A (n.247-7C>A) c.736-7C>A (n.736-7C>A) c.199-7C>A (n.199-7C>A) c.82-7C>A (n.82-7C>A) c.188-7C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.71437951A>T | CA2614858529 | DHCR7 | c.832-8T>A (n.832-8T>A) c.658-8T>A (n.658-8T>A) c.883-8T>A (n.883-8T>A) c.868-8T>A (n.868-8T>A) n.872-8T>A c.247-8T>A (n.247-8T>A) c.736-8T>A (n.736-8T>A) c.199-8T>A (n.199-8T>A) c.82-8T>A (n.82-8T>A) c.188-8T>A | gnomAD v4 |
11 | g.71437952C>G | CA2614858532 | DHCR7 | c.832-9G>C (n.832-9G>C) c.658-9G>C (n.658-9G>C) c.883-9G>C (n.883-9G>C) c.868-9G>C (n.868-9G>C) n.872-9G>C c.247-9G>C (n.247-9G>C) c.736-9G>C (n.736-9G>C) c.199-9G>C (n.199-9G>C) c.82-9G>C (n.82-9G>C) c.188-9G>C | gnomAD v4 |
11 | g.71437952C>T | CA2499221289 | DHCR7 | c.832-9G>A (n.832-9G>A) c.658-9G>A (n.658-9G>A) c.883-9G>A (n.883-9G>A) c.868-9G>A (n.868-9G>A) n.872-9G>A c.247-9G>A (n.247-9G>A) c.736-9G>A (n.736-9G>A) c.199-9G>A (n.199-9G>A) c.82-9G>A (n.82-9G>A) c.188-9G>A | ClinVar dbSNP |
11 | g.71437954G>A | CA2614858537 | DHCR7 | c.832-11C>T (n.832-11C>T) c.658-11C>T (n.658-11C>T) c.883-11C>T (n.883-11C>T) c.868-11C>T (n.868-11C>T) n.872-11C>T c.247-11C>T (n.247-11C>T) c.736-11C>T (n.736-11C>T) c.199-11C>T (n.199-11C>T) c.82-11C>T (n.82-11C>T) c.188-11C>T | gnomAD v4 |
11 | g.71437954G>C | CA2614858536 | DHCR7 | c.832-11C>G (n.832-11C>G) c.658-11C>G (n.658-11C>G) c.883-11C>G (n.883-11C>G) c.868-11C>G (n.868-11C>G) n.872-11C>G c.247-11C>G (n.247-11C>G) c.736-11C>G (n.736-11C>G) c.199-11C>G (n.199-11C>G) c.82-11C>G (n.82-11C>G) c.188-11C>G | gnomAD v4 |
11 | g.71437954G>T | CA2614858534 | DHCR7 | c.832-11C>A (n.832-11C>A) c.658-11C>A (n.658-11C>A) c.883-11C>A (n.883-11C>A) c.868-11C>A (n.868-11C>A) n.872-11C>A c.247-11C>A (n.247-11C>A) c.736-11C>A (n.736-11C>A) c.199-11C>A (n.199-11C>A) c.82-11C>A (n.82-11C>A) c.188-11C>A | gnomAD v4 |
11 | g.71437956A= | CA1981488069 | DHCR7 | c.832-13T= (n.832-13T=) c.658-13T= (n.658-13T=) c.883-13T= (n.883-13T=) c.868-13T= (n.868-13T=) n.872-13T= c.247-13T= (n.247-13T=) c.736-13T= (n.736-13T=) c.199-13T= (n.199-13T=) c.82-13T= (n.82-13T=) c.188-13T= | |
11 | g.71437956A>T | CA6162420 | DHCR7 | c.832-13T>A (n.832-13T>A) c.658-13T>A (n.658-13T>A) c.883-13T>A (n.883-13T>A) c.868-13T>A (n.868-13T>A) n.872-13T>A c.247-13T>A (n.247-13T>A) c.736-13T>A (n.736-13T>A) c.199-13T>A (n.199-13T>A) c.82-13T>A (n.82-13T>A) c.188-13T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |