Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.124493028A>C | CA374881849 | NR5A1 | c.990+2T>G (n.990+2T>G) c.342+2T>G (n.342+2T>G) c.871-1800T>G (n.871-1800T>G) c.729+2T>G (n.729+2T>G) c.870+7062T>G (n.870+7062T>G) | |
9 | g.124493028A>G | CA374881847 | NR5A1 | c.990+2T>C (n.990+2T>C) c.342+2T>C (n.342+2T>C) c.871-1800T>C (n.871-1800T>C) c.729+2T>C (n.729+2T>C) c.870+7062T>C (n.870+7062T>C) | |
9 | g.124493028A>T | CA374881848 | NR5A1 | c.990+2T>A (n.990+2T>A) c.342+2T>A (n.342+2T>A) c.871-1800T>A (n.871-1800T>A) c.729+2T>A (n.729+2T>A) c.870+7062T>A (n.870+7062T>A) | |
9 | g.124493029C>A | CA374881850 | NR5A1 | c.990+1G>T (n.990+1G>T) c.342+1G>T (n.342+1G>T) c.871-1801G>T (n.871-1801G>T) c.729+1G>T (n.729+1G>T) c.870+7061G>T (n.870+7061G>T) | |
9 | g.124493029C>G | CA374881852 | NR5A1 | c.990+1G>C (n.990+1G>C) c.342+1G>C (n.342+1G>C) c.871-1801G>C (n.871-1801G>C) c.729+1G>C (n.729+1G>C) c.870+7061G>C (n.870+7061G>C) | |
9 | g.124493029C>T | CA374881855 | NR5A1 | c.990+1G>A (n.990+1G>A) c.342+1G>A (n.342+1G>A) c.871-1801G>A (n.871-1801G>A) c.729+1G>A (n.729+1G>A) c.870+7061G>A (n.870+7061G>A) | gnomAD v4 |
9 | g.124493030C>A | CA374881857 | NR5A1 | c.990G>T (p.Glu330Asp) c.342G>T (p.Glu114Asp) c.871-1802G>T (n.871-1802G>T) c.729G>T (p.Glu243Asp) c.870+7060G>T (n.870+7060G>T) | gnomAD v4 |
9 | g.124493030C= | CA1878461905 | NR5A1 | c.990G= (p.Glu330=) c.342G= (p.Glu114=) c.871-1802G= (n.871-1802G=) c.729G= (p.Glu243=) c.870+7060G= (n.870+7060G=) | |
9 | g.124493030C>G | CA374881859 | NR5A1 | c.990G>C (p.Glu330Asp) c.342G>C (p.Glu114Asp) c.871-1802G>C (n.871-1802G>C) c.729G>C (p.Glu243Asp) c.870+7060G>C (n.870+7060G>C) | |
9 | g.124493030C>T | CA467121274 | NR5A1 | c.990G>A (p.Glu330=) c.342G>A (p.Glu114=) c.871-1802G>A (n.871-1802G>A) c.729G>A (p.Glu243=) c.870+7060G>A (n.870+7060G>A) | ClinVar dbSNP gnomAD v4 |
9 | g.124493031T>A | CA374881866 | NR5A1 | c.989A>T (p.Glu330Val) c.341A>T (p.Glu114Val) c.871-1803A>T (n.871-1803A>T) c.728A>T (p.Glu243Val) c.870+7059A>T (n.870+7059A>T) | |
9 | g.124493031T>C | CA374881862 | NR5A1 | c.989A>G (p.Glu330Gly) c.341A>G (p.Glu114Gly) c.871-1803A>G (n.871-1803A>G) c.728A>G (p.Glu243Gly) c.870+7059A>G (n.870+7059A>G) | gnomAD v4 |
9 | g.124493031T>G | CA374881864 | NR5A1 | c.989A>C (p.Glu330Ala) c.341A>C (p.Glu114Ala) c.871-1803A>C (n.871-1803A>C) c.728A>C (p.Glu243Ala) c.870+7059A>C (n.870+7059A>C) | |
9 | g.124493032C>A | CA374881869 | NR5A1 | c.988G>T (p.Glu330Ter) c.340G>T (p.Glu114Ter) c.871-1804G>T (n.871-1804G>T) c.727G>T (p.Glu243Ter) c.870+7058G>T (n.870+7058G>T) | gnomAD v4 |
9 | g.124493032C= | CA1878461906 | NR5A1 | c.988G= (p.Glu330=) c.340G= (p.Glu114=) c.871-1804G= (n.871-1804G=) c.727G= (p.Glu243=) c.870+7058G= (n.870+7058G=) | |
9 | g.124493032C>G | CA374881872 | NR5A1 | c.988G>C (p.Glu330Gln) c.340G>C (p.Glu114Gln) c.871-1804G>C (n.871-1804G>C) c.727G>C (p.Glu243Gln) c.870+7058G>C (n.870+7058G>C) | |
9 | g.124493032C>T | CA374881875 | NR5A1 | c.988G>A (p.Glu330Lys) c.340G>A (p.Glu114Lys) c.871-1804G>A (n.871-1804G>A) c.727G>A (p.Glu243Lys) c.870+7058G>A (n.870+7058G>A) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
9 | g.124493033C>A | CA374881878 | NR5A1 | c.987G>T (p.Gln329His) c.339G>T (p.Gln113His) c.871-1805G>T (n.871-1805G>T) c.726G>T (p.Gln242His) c.870+7057G>T (n.870+7057G>T) | gnomAD v4 |
9 | g.124493033C= | CA1878461907 | NR5A1 | c.987G= (p.Gln329=) c.339G= (p.Gln113=) c.871-1805G= (n.871-1805G=) c.726G= (p.Gln242=) c.870+7057G= (n.870+7057G=) | |
9 | g.124493033C>G | CA374881880 | NR5A1 | c.987G>C (p.Gln329His) c.339G>C (p.Gln113His) c.871-1805G>C (n.871-1805G>C) c.726G>C (p.Gln242His) c.870+7057G>C (n.870+7057G>C) | |
9 | g.124493033C>T | CA467121275 | NR5A1 | c.987G>A (p.Gln329=) c.339G>A (p.Gln113=) c.871-1805G>A (n.871-1805G>A) c.726G>A (p.Gln242=) c.870+7057G>A (n.870+7057G>A) | dbSNP |
9 | g.124493034T>A | CA374881885 | NR5A1 | c.986A>T (p.Gln329Leu) c.338A>T (p.Gln113Leu) c.871-1806A>T (n.871-1806A>T) c.725A>T (p.Gln242Leu) c.870+7056A>T (n.870+7056A>T) | |
9 | g.124493034T>C | CA374881892 | NR5A1 | c.986A>G (p.Gln329Arg) c.338A>G (p.Gln113Arg) c.871-1806A>G (n.871-1806A>G) c.725A>G (p.Gln242Arg) c.870+7056A>G (n.870+7056A>G) | gnomAD v4 |
9 | g.124493034T>G | CA374881887 | NR5A1 | c.986A>C (p.Gln329Pro) c.338A>C (p.Gln113Pro) c.871-1806A>C (n.871-1806A>C) c.725A>C (p.Gln242Pro) c.870+7056A>C (n.870+7056A>C) | |
9 | g.124493035G>A | CA374881896 | NR5A1 | c.985C>T (p.Gln329Ter) c.337C>T (p.Gln113Ter) c.871-1807C>T (n.871-1807C>T) c.724C>T (p.Gln242Ter) c.870+7055C>T (n.870+7055C>T) | gnomAD v4 |
9 | g.124493035G>C | CA374881899 | NR5A1 | c.985C>G (p.Gln329Glu) c.337C>G (p.Gln113Glu) c.871-1807C>G (n.871-1807C>G) c.724C>G (p.Gln242Glu) c.870+7055C>G (n.870+7055C>G) | |
9 | g.124493035G>T | CA374881902 | NR5A1 | c.985C>A (p.Gln329Lys) c.337C>A (p.Gln113Lys) c.871-1807C>A (n.871-1807C>A) c.724C>A (p.Gln242Lys) c.870+7055C>A (n.870+7055C>A) | gnomAD v4 |
9 | g.124493035_124493036del | CA2695211066 | NR5A1 | c.984_985del (p.Gln329GlyfsTer?) c.336_337del (p.Gln113GlyfsTer?) c.871-1808_871-1807del (n.871-1808_871-1807del) c.723_724del (p.Gln242GlyfsTer?) c.870+7054_870+7055del (n.870+7054_870+7055del) | |
9 | g.124493036C>A | CA467121276 | NR5A1 | c.984G>T (p.Gly328=) c.336G>T (p.Gly112=) c.871-1808G>T (n.871-1808G>T) c.723G>T (p.Gly241=) c.870+7054G>T (n.870+7054G>T) | |
9 | g.124493036C= | CA1878461908 | NR5A1 | c.984G= (p.Gly328=) c.336G= (p.Gly112=) c.871-1808G= (n.871-1808G=) c.723G= (p.Gly241=) c.870+7054G= (n.870+7054G=) | |
9 | g.124493036C>G | CA467121277 | NR5A1 | c.984G>C (p.Gly328=) c.336G>C (p.Gly112=) c.871-1808G>C (n.871-1808G>C) c.723G>C (p.Gly241=) c.870+7054G>C (n.870+7054G>C) | |
9 | g.124493036C>T | CA467121278 | NR5A1 | c.984G>A (p.Gly328=) c.336G>A (p.Gly112=) c.871-1808G>A (n.871-1808G>A) c.723G>A (p.Gly241=) c.870+7054G>A (n.870+7054G>A) | dbSNP gnomAD v4 |
9 | g.124493038del | CA2573143851 | NR5A1 | c.984del (p.Gln329ArgfsTer5) c.336del (p.Gln113ArgfsTer5) c.871-1808del (n.871-1808del) c.723del (p.Gln242ArgfsTer5) c.870+7054del (n.870+7054del) | ClinVar dbSNP |
9 | g.124493037C>A | CA374881904 | NR5A1 | c.983G>T (p.Gly328Val) c.335G>T (p.Gly112Val) c.871-1809G>T (n.871-1809G>T) c.722G>T (p.Gly241Val) c.870+7053G>T (n.870+7053G>T) | ClinVar dbSNP gnomAD v4 |
9 | g.124493037C>G | CA374881907 | NR5A1 | c.983G>C (p.Gly328Ala) c.335G>C (p.Gly112Ala) c.871-1809G>C (n.871-1809G>C) c.722G>C (p.Gly241Ala) c.870+7053G>C (n.870+7053G>C) | |
9 | g.124493037C>T | CA374881910 | NR5A1 | c.983G>A (p.Gly328Glu) c.335G>A (p.Gly112Glu) c.871-1809G>A (n.871-1809G>A) c.722G>A (p.Gly241Glu) c.870+7053G>A (n.870+7053G>A) | gnomAD v4 |
9 | g.124493038C>A | CA374881915 | NR5A1 | c.982G>T (p.Gly328Trp) c.334G>T (p.Gly112Trp) c.871-1810G>T (n.871-1810G>T) c.721G>T (p.Gly241Trp) c.870+7052G>T (n.870+7052G>T) | gnomAD v4 |
9 | g.124493038C= | CA1878461909 | NR5A1 | c.982G= (p.Gly328=) c.334G= (p.Gly112=) c.871-1810G= (n.871-1810G=) c.721G= (p.Gly241=) c.870+7052G= (n.870+7052G=) | |
9 | g.124493038C>G | CA374881916 | NR5A1 | c.982G>C (p.Gly328Arg) c.334G>C (p.Gly112Arg) c.871-1810G>C (n.871-1810G>C) c.721G>C (p.Gly241Arg) c.870+7052G>C (n.870+7052G>C) | |
9 | g.124493038C>T | CA374881919 | NR5A1 | c.982G>A (p.Gly328Arg) c.334G>A (p.Gly112Arg) c.871-1810G>A (n.871-1810G>A) c.721G>A (p.Gly241Arg) c.870+7052G>A (n.870+7052G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
9 | g.124493039G>A | CA5235340 | NR5A1 | c.981C>T (p.Thr327=) c.333C>T (p.Thr111=) c.871-1811C>T (n.871-1811C>T) c.720C>T (p.Thr240=) c.870+7051C>T (n.870+7051C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.124493039G>C | CA467121279 | NR5A1 | c.981C>G (p.Thr327=) c.333C>G (p.Thr111=) c.871-1811C>G (n.871-1811C>G) c.720C>G (p.Thr240=) c.870+7051C>G (n.870+7051C>G) | dbSNP gnomAD v4 |
9 | g.124493039G= | CA1878461910 | NR5A1 | c.981C= (p.Thr327=) c.333C= (p.Thr111=) c.871-1811C= (n.871-1811C=) c.720C= (p.Thr240=) c.870+7051C= (n.870+7051C=) | |
9 | g.124493039G>T | CA5235339 | NR5A1 | c.981C>A (p.Thr327=) c.333C>A (p.Thr111=) c.871-1811C>A (n.871-1811C>A) c.720C>A (p.Thr240=) c.870+7051C>A (n.870+7051C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
9 | g.124493040G>A | CA374881932 | NR5A1 | c.980C>T (p.Thr327Ile) c.332C>T (p.Thr111Ile) c.871-1812C>T (n.871-1812C>T) c.719C>T (p.Thr240Ile) c.870+7050C>T (n.870+7050C>T) | |
9 | g.124493040G>C | CA374881928 | NR5A1 | c.980C>G (p.Thr327Ser) c.332C>G (p.Thr111Ser) c.871-1812C>G (n.871-1812C>G) c.719C>G (p.Thr240Ser) c.870+7050C>G (n.870+7050C>G) | |
9 | g.124493040G>T | CA374881930 | NR5A1 | c.980C>A (p.Thr327Asn) c.332C>A (p.Thr111Asn) c.871-1812C>A (n.871-1812C>A) c.719C>A (p.Thr240Asn) c.870+7050C>A (n.870+7050C>A) | |
9 | g.124493041T>A | CA374881936 | NR5A1 | c.979A>T (p.Thr327Ser) c.331A>T (p.Thr111Ser) c.871-1813A>T (n.871-1813A>T) c.718A>T (p.Thr240Ser) c.870+7049A>T (n.870+7049A>T) | |
9 | g.124493041T>C | CA374881939 | NR5A1 | c.979A>G (p.Thr327Ala) c.331A>G (p.Thr111Ala) c.871-1813A>G (n.871-1813A>G) c.718A>G (p.Thr240Ala) c.870+7049A>G (n.870+7049A>G) | |
9 | g.124493041T>G | CA374881943 | NR5A1 | c.979A>C (p.Thr327Pro) c.331A>C (p.Thr111Pro) c.871-1813A>C (n.871-1813A>C) c.718A>C (p.Thr240Pro) c.870+7049A>C (n.870+7049A>C) | |
9 | g.124493042G>A | CA467121282 | NR5A1 | c.978C>T (p.Val326=) c.330C>T (p.Val110=) c.871-1814C>T (n.871-1814C>T) c.717C>T (p.Val239=) c.870+7048C>T (n.870+7048C>T) | |
9 | g.124493042G>C | CA467121281 | NR5A1 | c.978C>G (p.Val326=) c.330C>G (p.Val110=) c.871-1814C>G (n.871-1814C>G) c.717C>G (p.Val239=) c.870+7048C>G (n.870+7048C>G) | |
9 | g.124493042G>T | CA467121280 | NR5A1 | c.978C>A (p.Val326=) c.330C>A (p.Val110=) c.871-1814C>A (n.871-1814C>A) c.717C>A (p.Val239=) c.870+7048C>A (n.870+7048C>A) | gnomAD v4 |
9 | g.124493043A>C | CA374881947 | NR5A1 | c.977T>G (p.Val326Gly) c.329T>G (p.Val110Gly) c.871-1815T>G (n.871-1815T>G) c.716T>G (p.Val239Gly) c.870+7047T>G (n.870+7047T>G) | |
9 | g.124493043A>G | CA374881950 | NR5A1 | c.977T>C (p.Val326Ala) c.329T>C (p.Val110Ala) c.871-1815T>C (n.871-1815T>C) c.716T>C (p.Val239Ala) c.870+7047T>C (n.870+7047T>C) | gnomAD v4 |
9 | g.124493043A>T | CA374881951 | NR5A1 | c.977T>A (p.Val326Asp) c.329T>A (p.Val110Asp) c.871-1815T>A (n.871-1815T>A) c.716T>A (p.Val239Asp) c.870+7047T>A (n.870+7047T>A) | |
9 | g.124493044C>A | CA374881970 | NR5A1 | c.976G>T (p.Val326Phe) c.328G>T (p.Val110Phe) c.871-1816G>T (n.871-1816G>T) c.715G>T (p.Val239Phe) c.870+7046G>T (n.870+7046G>T) | |
9 | g.124493044C= | CA1878461911 | NR5A1 | c.976G= (p.Val326=) c.328G= (p.Val110=) c.871-1816G= (n.871-1816G=) c.715G= (p.Val239=) c.870+7046G= (n.870+7046G=) | |
9 | g.124493044C>G | CA374881962 | NR5A1 | c.976G>C (p.Val326Leu) c.328G>C (p.Val110Leu) c.871-1816G>C (n.871-1816G>C) c.715G>C (p.Val239Leu) c.870+7046G>C (n.870+7046G>C) | |
9 | g.124493044C>T | CA374881966 | NR5A1 | c.976G>A (p.Val326Ile) c.328G>A (p.Val110Ile) c.871-1816G>A (n.871-1816G>A) c.715G>A (p.Val239Ile) c.870+7046G>A (n.870+7046G>A) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.124493045C>A | CA467121283 | NR5A1 | c.975G>T (p.Leu325=) c.327G>T (p.Leu109=) c.871-1817G>T (n.871-1817G>T) c.714G>T (p.Leu238=) c.870+7045G>T (n.870+7045G>T) | gnomAD v4 |
9 | g.124493045C= | CA1878461912 | NR5A1 | c.975G= (p.Leu325=) c.327G= (p.Leu109=) c.871-1817G= (n.871-1817G=) c.714G= (p.Leu238=) c.870+7045G= (n.870+7045G=) | |
9 | g.124493045C>G | CA467121284 | NR5A1 | c.975G>C (p.Leu325=) c.327G>C (p.Leu109=) c.871-1817G>C (n.871-1817G>C) c.714G>C (p.Leu238=) c.870+7045G>C (n.870+7045G>C) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.124493045C>T | CA467121285 | NR5A1 | c.975G>A (p.Leu325=) c.327G>A (p.Leu109=) c.871-1817G>A (n.871-1817G>A) c.714G>A (p.Leu238=) c.870+7045G>A (n.870+7045G>A) | |
9 | g.124493046A>C | CA374881974 | NR5A1 | c.974T>G (p.Leu325Arg) c.326T>G (p.Leu109Arg) c.871-1818T>G (n.871-1818T>G) c.713T>G (p.Leu238Arg) c.870+7044T>G (n.870+7044T>G) | |
9 | g.124493046A>G | CA374881978 | NR5A1 | c.974T>C (p.Leu325Pro) c.326T>C (p.Leu109Pro) c.871-1818T>C (n.871-1818T>C) c.713T>C (p.Leu238Pro) c.870+7044T>C (n.870+7044T>C) | |
9 | g.124493046A>T | CA374881981 | NR5A1 | c.974T>A (p.Leu325Gln) c.326T>A (p.Leu109Gln) c.871-1818T>A (n.871-1818T>A) c.713T>A (p.Leu238Gln) c.870+7044T>A (n.870+7044T>A) | |
9 | g.124493047G>A | CA467121286 | NR5A1 | c.973C>T (p.Leu325=) c.325C>T (p.Leu109=) c.871-1819C>T (n.871-1819C>T) c.712C>T (p.Leu238=) c.870+7043C>T (n.870+7043C>T) | gnomAD v4 |
9 | g.124493047G>C | CA374881985 | NR5A1 | c.973C>G (p.Leu325Val) c.325C>G (p.Leu109Val) c.871-1819C>G (n.871-1819C>G) c.712C>G (p.Leu238Val) c.870+7043C>G (n.870+7043C>G) | |
9 | g.124493047G>T | CA374881987 | NR5A1 | c.973C>A (p.Leu325Met) c.325C>A (p.Leu109Met) c.871-1819C>A (n.871-1819C>A) c.712C>A (p.Leu238Met) c.870+7043C>A (n.870+7043C>A) | |
9 | g.124493048C>A | CA467121287 | NR5A1 | c.972G>T (p.Leu324=) c.324G>T (p.Leu108=) c.871-1820G>T (n.871-1820G>T) c.711G>T (p.Leu237=) c.870+7042G>T (n.870+7042G>T) | |
9 | g.124493048C>G | CA467121289 | NR5A1 | c.972G>C (p.Leu324=) c.324G>C (p.Leu108=) c.871-1820G>C (n.871-1820G>C) c.711G>C (p.Leu237=) c.870+7042G>C (n.870+7042G>C) | |
9 | g.124493048C>T | CA467121288 | NR5A1 | c.972G>A (p.Leu324=) c.324G>A (p.Leu108=) c.871-1820G>A (n.871-1820G>A) c.711G>A (p.Leu237=) c.870+7042G>A (n.870+7042G>A) | |
9 | g.124493049A>C | CA374881990 | NR5A1 | c.971T>G (p.Leu324Arg) c.323T>G (p.Leu108Arg) c.871-1821T>G (n.871-1821T>G) c.710T>G (p.Leu237Arg) c.870+7041T>G (n.870+7041T>G) | |
9 | g.124493049A>G | CA374881997 | NR5A1 | c.971T>C (p.Leu324Pro) c.323T>C (p.Leu108Pro) c.871-1821T>C (n.871-1821T>C) c.710T>C (p.Leu237Pro) c.870+7041T>C (n.870+7041T>C) | |
9 | g.124493049A>T | CA374881994 | NR5A1 | c.971T>A (p.Leu324Gln) c.323T>A (p.Leu108Gln) c.871-1821T>A (n.871-1821T>A) c.710T>A (p.Leu237Gln) c.870+7041T>A (n.870+7041T>A) | |
9 | g.124493050G>A | CA467121290 | NR5A1 | c.970C>T (p.Leu324=) c.322C>T (p.Leu108=) c.871-1822C>T (n.871-1822C>T) c.709C>T (p.Leu237=) c.870+7040C>T (n.870+7040C>T) | |
9 | g.124493050G>C | CA5235341 | NR5A1 | c.970C>G (p.Leu324Val) c.322C>G (p.Leu108Val) c.871-1822C>G (n.871-1822C>G) c.709C>G (p.Leu237Val) c.870+7040C>G (n.870+7040C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.124493050G= | CA1878461913 | NR5A1 | c.970C= (p.Leu324=) c.322C= (p.Leu108=) c.871-1822C= (n.871-1822C=) c.709C= (p.Leu237=) c.870+7040C= (n.870+7040C=) | |
9 | g.124493050G>T | CA374882004 | NR5A1 | c.970C>A (p.Leu324Met) c.322C>A (p.Leu108Met) c.871-1822C>A (n.871-1822C>A) c.709C>A (p.Leu237Met) c.870+7040C>A (n.870+7040C>A) | gnomAD v4 |
9 | g.124493051G>A | CA467121291 | NR5A1 | c.969C>T (p.Ile323=) c.321C>T (p.Ile107=) c.871-1823C>T (n.871-1823C>T) c.708C>T (p.Ile236=) c.870+7039C>T (n.870+7039C>T) | |
9 | g.124493051G>C | CA374882009 | NR5A1 | c.969C>G (p.Ile323Met) c.321C>G (p.Ile107Met) c.871-1823C>G (n.871-1823C>G) c.708C>G (p.Ile236Met) c.870+7039C>G (n.870+7039C>G) | |
9 | g.124493051G= | CA1878461914 | NR5A1 | c.969C= (p.Ile323=) c.321C= (p.Ile107=) c.871-1823C= (n.871-1823C=) c.708C= (p.Ile236=) c.870+7039C= (n.870+7039C=) | |
9 | g.124493051G>T | CA467121292 | NR5A1 | c.969C>A (p.Ile323=) c.321C>A (p.Ile107=) c.871-1823C>A (n.871-1823C>A) c.708C>A (p.Ile236=) c.870+7039C>A (n.870+7039C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.124493052A>C | CA374882013 | NR5A1 | c.968T>G (p.Ile323Ser) c.320T>G (p.Ile107Ser) c.871-1824T>G (n.871-1824T>G) c.707T>G (p.Ile236Ser) c.870+7038T>G (n.870+7038T>G) | |
9 | g.124493052A>G | CA374882015 | NR5A1 | c.968T>C (p.Ile323Thr) c.320T>C (p.Ile107Thr) c.871-1824T>C (n.871-1824T>C) c.707T>C (p.Ile236Thr) c.870+7038T>C (n.870+7038T>C) | |
9 | g.124493052A>T | CA374882017 | NR5A1 | c.968T>A (p.Ile323Asn) c.320T>A (p.Ile107Asn) c.871-1824T>A (n.871-1824T>A) c.707T>A (p.Ile236Asn) c.870+7038T>A (n.870+7038T>A) | |
9 | g.124493053T>A | CA374882020 | NR5A1 | c.967A>T (p.Ile323Phe) c.319A>T (p.Ile107Phe) c.871-1825A>T (n.871-1825A>T) c.706A>T (p.Ile236Phe) c.870+7037A>T (n.870+7037A>T) | |
9 | g.124493053T>C | CA374882022 | NR5A1 | c.967A>G (p.Ile323Val) c.319A>G (p.Ile107Val) c.871-1825A>G (n.871-1825A>G) c.706A>G (p.Ile236Val) c.870+7037A>G (n.870+7037A>G) | |
9 | g.124493053T>G | CA374882025 | NR5A1 | c.967A>C (p.Ile323Leu) c.319A>C (p.Ile107Leu) c.871-1825A>C (n.871-1825A>C) c.706A>C (p.Ile236Leu) c.870+7037A>C (n.870+7037A>C) | |
9 | g.124493054G>A | CA467121293 | NR5A1 | c.966C>T (p.Ser322=) c.318C>T (p.Ser106=) c.871-1826C>T (n.871-1826C>T) c.705C>T (p.Ser235=) c.870+7036C>T (n.870+7036C>T) | gnomAD v4 |
9 | g.124493054G>C | CA374882028 | NR5A1 | c.966C>G (p.Ser322Arg) c.318C>G (p.Ser106Arg) c.871-1826C>G (n.871-1826C>G) c.705C>G (p.Ser235Arg) c.870+7036C>G (n.870+7036C>G) | |
9 | g.124493054G>T | CA374882030 | NR5A1 | c.966C>A (p.Ser322Arg) c.318C>A (p.Ser106Arg) c.871-1826C>A (n.871-1826C>A) c.705C>A (p.Ser235Arg) c.870+7036C>A (n.870+7036C>A) | gnomAD v4 |
9 | g.124493055C>A | CA374882035 | NR5A1 | c.965G>T (p.Ser322Ile) c.317G>T (p.Ser106Ile) c.871-1827G>T (n.871-1827G>T) c.704G>T (p.Ser235Ile) c.870+7035G>T (n.870+7035G>T) | |
9 | g.124493055C>G | CA374882041 | NR5A1 | c.965G>C (p.Ser322Thr) c.317G>C (p.Ser106Thr) c.871-1827G>C (n.871-1827G>C) c.704G>C (p.Ser235Thr) c.870+7035G>C (n.870+7035G>C) | |
9 | g.124493055C>T | CA374882038 | NR5A1 | c.965G>A (p.Ser322Asn) c.317G>A (p.Ser106Asn) c.871-1827G>A (n.871-1827G>A) c.704G>A (p.Ser235Asn) c.870+7035G>A (n.870+7035G>A) | gnomAD v4 COSMIC COSMIC |
9 | g.124493056T>A | CA374882044 | NR5A1 | c.964A>T (p.Ser322Cys) c.316A>T (p.Ser106Cys) c.871-1828A>T (n.871-1828A>T) c.703A>T (p.Ser235Cys) c.870+7034A>T (n.870+7034A>T) | |
9 | g.124493056T>C | CA374882049 | NR5A1 | c.964A>G (p.Ser322Gly) c.316A>G (p.Ser106Gly) c.871-1828A>G (n.871-1828A>G) c.703A>G (p.Ser235Gly) c.870+7034A>G (n.870+7034A>G) | gnomAD v4 |
9 | g.124493056T>G | CA374882046 | NR5A1 | c.964A>C (p.Ser322Arg) c.316A>C (p.Ser106Arg) c.871-1828A>C (n.871-1828A>C) c.703A>C (p.Ser235Arg) c.870+7034A>C (n.870+7034A>C) | |
9 | g.124493057G>A | CA467121294 | NR5A1 | c.963C>T (p.Gly321=) c.315C>T (p.Gly105=) c.871-1829C>T (n.871-1829C>T) c.702C>T (p.Gly234=) c.870+7033C>T (n.870+7033C>T) | gnomAD v4 |
9 | g.124493057G>C | CA467121295 | NR5A1 | c.963C>G (p.Gly321=) c.315C>G (p.Gly105=) c.871-1829C>G (n.871-1829C>G) c.702C>G (p.Gly234=) c.870+7033C>G (n.870+7033C>G) | |
9 | g.124493057G>T | CA467121296 | NR5A1 | c.963C>A (p.Gly321=) c.315C>A (p.Gly105=) c.871-1829C>A (n.871-1829C>A) c.702C>A (p.Gly234=) c.870+7033C>A (n.870+7033C>A) | gnomAD v4 |
9 | g.124493058C>A | CA374882056 | NR5A1 | c.962G>T (p.Gly321Val) c.314G>T (p.Gly105Val) c.871-1830G>T (n.871-1830G>T) c.701G>T (p.Gly234Val) c.870+7032G>T (n.870+7032G>T) | gnomAD v4 |
9 | g.124493058C= | CA1878461915 | NR5A1 | c.962G= (p.Gly321=) c.314G= (p.Gly105=) c.871-1830G= (n.871-1830G=) c.701G= (p.Gly234=) c.870+7032G= (n.870+7032G=) | |
9 | g.124493058C>G | CA374882059 | NR5A1 | c.962G>C (p.Gly321Ala) c.314G>C (p.Gly105Ala) c.871-1830G>C (n.871-1830G>C) c.701G>C (p.Gly234Ala) c.870+7032G>C (n.870+7032G>C) | |
9 | g.124493058C>T | CA5235342 | NR5A1 | c.962G>A (p.Gly321Asp) c.314G>A (p.Gly105Asp) c.871-1830G>A (n.871-1830G>A) c.701G>A (p.Gly234Asp) c.870+7032G>A (n.870+7032G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.124493059C>A | CA374882066 | NR5A1 | c.961G>T (p.Gly321Cys) c.313G>T (p.Gly105Cys) c.871-1831G>T (n.871-1831G>T) c.700G>T (p.Gly234Cys) c.870+7031G>T (n.870+7031G>T) | |
9 | g.124493059C= | CA1878461916 | NR5A1 | c.961G= (p.Gly321=) c.313G= (p.Gly105=) c.871-1831G= (n.871-1831G=) c.700G= (p.Gly234=) c.870+7031G= (n.870+7031G=) | |
9 | g.124493059C>G | CA374882069 | NR5A1 | c.961G>C (p.Gly321Arg) c.313G>C (p.Gly105Arg) c.871-1831G>C (n.871-1831G>C) c.700G>C (p.Gly234Arg) c.870+7031G>C (n.870+7031G>C) | |
9 | g.124493059C>T | CA374882073 | NR5A1 | c.961G>A (p.Gly321Ser) c.313G>A (p.Gly105Ser) c.871-1831G>A (n.871-1831G>A) c.700G>A (p.Gly234Ser) c.870+7031G>A (n.870+7031G>A) | dbSNP gnomAD v4 |
9 | g.124493060C>A | CA374882077 | NR5A1 | c.960G>T (p.Glu320Asp) c.312G>T (p.Glu104Asp) c.871-1832G>T (n.871-1832G>T) c.699G>T (p.Glu233Asp) c.870+7030G>T (n.870+7030G>T) | |
9 | g.124493060C>G | CA374882080 | NR5A1 | c.960G>C (p.Glu320Asp) c.312G>C (p.Glu104Asp) c.871-1832G>C (n.871-1832G>C) c.699G>C (p.Glu233Asp) c.870+7030G>C (n.870+7030G>C) | |
9 | g.124493060C>T | CA467121297 | NR5A1 | c.960G>A (p.Glu320=) c.312G>A (p.Glu104=) c.871-1832G>A (n.871-1832G>A) c.699G>A (p.Glu233=) c.870+7030G>A (n.870+7030G>A) | gnomAD v4 |
9 | g.124493061T>A | CA374882084 | NR5A1 | c.959A>T (p.Glu320Val) c.311A>T (p.Glu104Val) c.871-1833A>T (n.871-1833A>T) c.698A>T (p.Glu233Val) c.870+7029A>T (n.870+7029A>T) | |
9 | g.124493061T>C | CA374882087 | NR5A1 | c.959A>G (p.Glu320Gly) c.311A>G (p.Glu104Gly) c.871-1833A>G (n.871-1833A>G) c.698A>G (p.Glu233Gly) c.870+7029A>G (n.870+7029A>G) | |
9 | g.124493061T>G | CA374882090 | NR5A1 | c.959A>C (p.Glu320Ala) c.311A>C (p.Glu104Ala) c.871-1833A>C (n.871-1833A>C) c.698A>C (p.Glu233Ala) c.870+7029A>C (n.870+7029A>C) | |
9 | g.124493062C>A | CA374882100 | NR5A1 | c.958G>T (p.Glu320Ter) c.310G>T (p.Glu104Ter) c.871-1834G>T (n.871-1834G>T) c.697G>T (p.Glu233Ter) c.870+7028G>T (n.870+7028G>T) | ClinVar dbSNP |
9 | g.124493062C>G | CA374882098 | NR5A1 | c.958G>C (p.Glu320Gln) c.310G>C (p.Glu104Gln) c.871-1834G>C (n.871-1834G>C) c.697G>C (p.Glu233Gln) c.870+7028G>C (n.870+7028G>C) | |
9 | g.124493062C>T | CA374882094 | NR5A1 | c.958G>A (p.Glu320Lys) c.310G>A (p.Glu104Lys) c.871-1834G>A (n.871-1834G>A) c.697G>A (p.Glu233Lys) c.870+7028G>A (n.870+7028G>A) | COSMIC COSMIC |
9 | g.124493063C>A | CA374882106 | NR5A1 | c.957G>T (p.Lys319Asn) c.309G>T (p.Lys103Asn) c.871-1835G>T (n.871-1835G>T) c.696G>T (p.Lys232Asn) c.870+7027G>T (n.870+7027G>T) | |
9 | g.124493063C>G | CA374882108 | NR5A1 | c.957G>C (p.Lys319Asn) c.309G>C (p.Lys103Asn) c.871-1835G>C (n.871-1835G>C) c.696G>C (p.Lys232Asn) c.870+7027G>C (n.870+7027G>C) | |
9 | g.124493063C>T | CA467121298 | NR5A1 | c.957G>A (p.Lys319=) c.309G>A (p.Lys103=) c.871-1835G>A (n.871-1835G>A) c.696G>A (p.Lys232=) c.870+7027G>A (n.870+7027G>A) | |
9 | g.124493064T>A | CA374882111 | NR5A1 | c.956A>T (p.Lys319Met) c.308A>T (p.Lys103Met) c.871-1836A>T (n.871-1836A>T) c.695A>T (p.Lys232Met) c.870+7026A>T (n.870+7026A>T) | |
9 | g.124493064T>C | CA374882113 | NR5A1 | c.956A>G (p.Lys319Arg) c.308A>G (p.Lys103Arg) c.871-1836A>G (n.871-1836A>G) c.695A>G (p.Lys232Arg) c.870+7026A>G (n.870+7026A>G) | gnomAD v4 |
9 | g.124493064T>G | CA374882117 | NR5A1 | c.956A>C (p.Lys319Thr) c.308A>C (p.Lys103Thr) c.871-1836A>C (n.871-1836A>C) c.695A>C (p.Lys232Thr) c.870+7026A>C (n.870+7026A>C) | |
9 | g.124493065T>A | CA374882120 | NR5A1 | c.955A>T (p.Lys319Ter) c.307A>T (p.Lys103Ter) c.871-1837A>T (n.871-1837A>T) c.694A>T (p.Lys232Ter) c.870+7025A>T (n.870+7025A>T) | |
9 | g.124493065T>C | CA374882133 | NR5A1 | c.955A>G (p.Lys319Glu) c.307A>G (p.Lys103Glu) c.871-1837A>G (n.871-1837A>G) c.694A>G (p.Lys232Glu) c.870+7025A>G (n.870+7025A>G) | |
9 | g.124493065T>G | CA374882136 | NR5A1 | c.955A>C (p.Lys319Gln) c.307A>C (p.Lys103Gln) c.871-1837A>C (n.871-1837A>C) c.694A>C (p.Lys232Gln) c.870+7025A>C (n.870+7025A>C) | |
9 | g.124493066G>A | CA467121299 | NR5A1 | c.954C>T (p.Gly318=) c.306C>T (p.Gly102=) c.871-1838C>T (n.871-1838C>T) c.693C>T (p.Gly231=) c.870+7024C>T (n.870+7024C>T) | |
9 | g.124493066G>C | CA467121300 | NR5A1 | c.954C>G (p.Gly318=) c.306C>G (p.Gly102=) c.871-1838C>G (n.871-1838C>G) c.693C>G (p.Gly231=) c.870+7024C>G (n.870+7024C>G) | |
9 | g.124493066G>T | CA467121301 | NR5A1 | c.954C>A (p.Gly318=) c.306C>A (p.Gly102=) c.871-1838C>A (n.871-1838C>A) c.693C>A (p.Gly231=) c.870+7024C>A (n.870+7024C>A) | |
9 | g.124493067C>A | CA374882141 | NR5A1 | c.953G>T (p.Gly318Val) c.305G>T (p.Gly102Val) c.871-1839G>T (n.871-1839G>T) c.692G>T (p.Gly231Val) c.870+7023G>T (n.870+7023G>T) | |
9 | g.124493067C>G | CA374882143 | NR5A1 | c.953G>C (p.Gly318Ala) c.305G>C (p.Gly102Ala) c.871-1839G>C (n.871-1839G>C) c.692G>C (p.Gly231Ala) c.870+7023G>C (n.870+7023G>C) | |
9 | g.124493067C>T | CA374882147 | NR5A1 | c.953G>A (p.Gly318Asp) c.305G>A (p.Gly102Asp) c.871-1839G>A (n.871-1839G>A) c.692G>A (p.Gly231Asp) c.870+7023G>A (n.870+7023G>A) | gnomAD v4 |
9 | g.124493068C>A | CA374882157 | NR5A1 | c.952G>T (p.Gly318Cys) c.304G>T (p.Gly102Cys) c.871-1840G>T (n.871-1840G>T) c.691G>T (p.Gly231Cys) c.870+7022G>T (n.870+7022G>T) | gnomAD v4 |
9 | g.124493068C= | CA1878461917 | NR5A1 | c.952G= (p.Gly318=) c.304G= (p.Gly102=) c.871-1840G= (n.871-1840G=) c.691G= (p.Gly231=) c.870+7022G= (n.870+7022G=) | |
9 | g.124493068C>G | CA374882154 | NR5A1 | c.952G>C (p.Gly318Arg) c.304G>C (p.Gly102Arg) c.871-1840G>C (n.871-1840G>C) c.691G>C (p.Gly231Arg) c.870+7022G>C (n.870+7022G>C) | gnomAD v4 |
9 | g.124493068C>T | CA5235343 | NR5A1 | c.952G>A (p.Gly318Ser) c.304G>A (p.Gly102Ser) c.871-1840G>A (n.871-1840G>A) c.691G>A (p.Gly231Ser) c.870+7022G>A (n.870+7022G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.124493069del | CA2695211069 | NR5A1 | c.951del (p.His317GlnfsTer17) c.303del (p.His101GlnfsTer17) c.871-1841del (n.871-1841del) c.690del (p.His230GlnfsTer17) c.870+7021del (n.870+7021del) | |
9 | g.124493069G>A | CA5235344 | NR5A1 | c.951C>T (p.His317=) c.303C>T (p.His101=) c.871-1841C>T (n.871-1841C>T) c.690C>T (p.His230=) c.870+7021C>T (n.870+7021C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
9 | g.124493069G>C | CA374882162 | NR5A1 | c.951C>G (p.His317Gln) c.303C>G (p.His101Gln) c.871-1841C>G (n.871-1841C>G) c.690C>G (p.His230Gln) c.870+7021C>G (n.870+7021C>G) | |
9 | g.124493069G= | CA1878461918 | NR5A1 | c.951C= (p.His317=) c.303C= (p.His101=) c.871-1841C= (n.871-1841C=) c.690C= (p.His230=) c.870+7021C= (n.870+7021C=) | |
9 | g.124493069G>T | CA374882166 | NR5A1 | c.951C>A (p.His317Gln) c.303C>A (p.His101Gln) c.871-1841C>A (n.871-1841C>A) c.690C>A (p.His230Gln) c.870+7021C>A (n.870+7021C>A) | |
9 | g.124493070T>A | CA374882170 | NR5A1 | c.950A>T (p.His317Leu) c.302A>T (p.His101Leu) c.871-1842A>T (n.871-1842A>T) c.689A>T (p.His230Leu) c.870+7020A>T (n.870+7020A>T) | |
9 | g.124493070T>C | CA374882173 | NR5A1 | c.950A>G (p.His317Arg) c.302A>G (p.His101Arg) c.871-1842A>G (n.871-1842A>G) c.689A>G (p.His230Arg) c.870+7020A>G (n.870+7020A>G) | |
9 | g.124493070T>G | CA374882176 | NR5A1 | c.950A>C (p.His317Pro) c.302A>C (p.His101Pro) c.871-1842A>C (n.871-1842A>C) c.689A>C (p.His230Pro) c.870+7020A>C (n.870+7020A>C) | |
9 | g.124493071G>A | CA374882181 | NR5A1 | c.949C>T (p.His317Tyr) c.301C>T (p.His101Tyr) c.871-1843C>T (n.871-1843C>T) c.688C>T (p.His230Tyr) c.870+7019C>T (n.870+7019C>T) | gnomAD v4 |
9 | g.124493071G>C | CA374882184 | NR5A1 | c.949C>G (p.His317Asp) c.301C>G (p.His101Asp) c.871-1843C>G (n.871-1843C>G) c.688C>G (p.His230Asp) c.870+7019C>G (n.870+7019C>G) | |
9 | g.124493071G>T | CA374882186 | NR5A1 | c.949C>A (p.His317Asn) c.301C>A (p.His101Asn) c.871-1843C>A (n.871-1843C>A) c.688C>A (p.His230Asn) c.870+7019C>A (n.870+7019C>A) | gnomAD v4 |
9 | g.124493072C>A | CA374882188 | NR5A1 | c.948G>T (p.Gln316His) c.300G>T (p.Gln100His) c.871-1844G>T (n.871-1844G>T) c.687G>T (p.Gln229His) c.870+7018G>T (n.870+7018G>T) | |
9 | g.124493072C>G | CA374882191 | NR5A1 | c.948G>C (p.Gln316His) c.300G>C (p.Gln100His) c.871-1844G>C (n.871-1844G>C) c.687G>C (p.Gln229His) c.870+7018G>C (n.870+7018G>C) | |
9 | g.124493072C>T | CA467121302 | NR5A1 | c.948G>A (p.Gln316=) c.300G>A (p.Gln100=) c.871-1844G>A (n.871-1844G>A) c.687G>A (p.Gln229=) c.870+7018G>A (n.870+7018G>A) | |
9 | g.124493073T>A | CA374882204 | NR5A1 | c.947A>T (p.Gln316Leu) c.299A>T (p.Gln100Leu) c.871-1845A>T (n.871-1845A>T) c.686A>T (p.Gln229Leu) c.870+7017A>T (n.870+7017A>T) | |
9 | g.124493073T>C | CA374882199 | NR5A1 | c.947A>G (p.Gln316Arg) c.299A>G (p.Gln100Arg) c.871-1845A>G (n.871-1845A>G) c.686A>G (p.Gln229Arg) c.870+7017A>G (n.870+7017A>G) | |
9 | g.124493073T>G | CA374882197 | NR5A1 | c.947A>C (p.Gln316Pro) c.299A>C (p.Gln100Pro) c.871-1845A>C (n.871-1845A>C) c.686A>C (p.Gln229Pro) c.870+7017A>C (n.870+7017A>C) | |
9 | g.124493074G>A | CA374882208 | NR5A1 | c.946C>T (p.Gln316Ter) c.298C>T (p.Gln100Ter) c.871-1846C>T (n.871-1846C>T) c.685C>T (p.Gln229Ter) c.870+7016C>T (n.870+7016C>T) | COSMIC COSMIC |
9 | g.124493074G>C | CA374882212 | NR5A1 | c.946C>G (p.Gln316Glu) c.298C>G (p.Gln100Glu) c.871-1846C>G (n.871-1846C>G) c.685C>G (p.Gln229Glu) c.870+7016C>G (n.870+7016C>G) | |
9 | g.124493074G>T | CA374882215 | NR5A1 | c.946C>A (p.Gln316Lys) c.298C>A (p.Gln100Lys) c.871-1846C>A (n.871-1846C>A) c.685C>A (p.Gln229Lys) c.870+7016C>A (n.870+7016C>A) | gnomAD v4 |
9 | g.124493075G>A | CA467121303 | NR5A1 | c.945C>T (p.Val315=) c.297C>T (p.Val99=) c.871-1847C>T (n.871-1847C>T) c.684C>T (p.Val228=) c.870+7015C>T (n.870+7015C>T) | |
9 | g.124493075G>C | CA5235345 | NR5A1 | c.945C>G (p.Val315=) c.297C>G (p.Val99=) c.871-1847C>G (n.871-1847C>G) c.684C>G (p.Val228=) c.870+7015C>G (n.870+7015C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.124493075G= | CA1878461919 | NR5A1 | c.945C= (p.Val315=) c.297C= (p.Val99=) c.871-1847C= (n.871-1847C=) c.684C= (p.Val228=) c.870+7015C= (n.870+7015C=) | |
9 | g.124493075G>T | CA467121304 | NR5A1 | c.945C>A (p.Val315=) c.297C>A (p.Val99=) c.871-1847C>A (n.871-1847C>A) c.684C>A (p.Val228=) c.870+7015C>A (n.870+7015C>A) | |
9 | g.124493076A>C | CA374882223 | NR5A1 | c.944T>G (p.Val315Gly) c.296T>G (p.Val99Gly) c.871-1848T>G (n.871-1848T>G) c.683T>G (p.Val228Gly) c.870+7014T>G (n.870+7014T>G) | |
9 | g.124493076A>G | CA374882226 | NR5A1 | c.944T>C (p.Val315Ala) c.296T>C (p.Val99Ala) c.871-1848T>C (n.871-1848T>C) c.683T>C (p.Val228Ala) c.870+7014T>C (n.870+7014T>C) | gnomAD v4 |
9 | g.124493076A>T | CA374882229 | NR5A1 | c.944T>A (p.Val315Asp) c.296T>A (p.Val99Asp) c.871-1848T>A (n.871-1848T>A) c.683T>A (p.Val228Asp) c.870+7014T>A (n.870+7014T>A) | |
9 | g.124493077C>A | CA374882232 | NR5A1 | c.943G>T (p.Val315Phe) c.295G>T (p.Val99Phe) c.871-1849G>T (n.871-1849G>T) c.682G>T (p.Val228Phe) c.870+7013G>T (n.870+7013G>T) | |
9 | g.124493077C>G | CA374882234 | NR5A1 | c.943G>C (p.Val315Leu) c.295G>C (p.Val99Leu) c.871-1849G>C (n.871-1849G>C) c.682G>C (p.Val228Leu) c.870+7013G>C (n.870+7013G>C) | |
9 | g.124493077C>T | CA374882237 | NR5A1 | c.943G>A (p.Val315Ile) c.295G>A (p.Val99Ile) c.871-1849G>A (n.871-1849G>A) c.682G>A (p.Val228Ile) c.870+7013G>A (n.870+7013G>A) | |
9 | g.124493078C>A | CA374882241 | NR5A1 | c.942G>T (p.Gln314His) c.294G>T (p.Gln98His) c.871-1850G>T (n.871-1850G>T) c.681G>T (p.Gln227His) c.870+7012G>T (n.870+7012G>T) | |
9 | g.124493078C= | CA1878461920 | NR5A1 | c.942G= (p.Gln314=) c.294G= (p.Gln98=) c.871-1850G= (n.871-1850G=) c.681G= (p.Gln227=) c.870+7012G= (n.870+7012G=) | |
9 | g.124493078C>G | CA374882245 | NR5A1 | c.942G>C (p.Gln314His) c.294G>C (p.Gln98His) c.871-1850G>C (n.871-1850G>C) c.681G>C (p.Gln227His) c.870+7012G>C (n.870+7012G>C) | ClinVar dbSNP |
9 | g.124493078C>T | CA5235346 | NR5A1 | c.942G>A (p.Gln314=) c.294G>A (p.Gln98=) c.871-1850G>A (n.871-1850G>A) c.681G>A (p.Gln227=) c.870+7012G>A (n.870+7012G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.124493079T>A | CA374882256 | NR5A1 | c.941A>T (p.Gln314Leu) c.293A>T (p.Gln98Leu) c.871-1851A>T (n.871-1851A>T) c.680A>T (p.Gln227Leu) c.870+7011A>T (n.870+7011A>T) | |
9 | g.124493079T>C | CA374882260 | NR5A1 | c.941A>G (p.Gln314Arg) c.293A>G (p.Gln98Arg) c.871-1851A>G (n.871-1851A>G) c.680A>G (p.Gln227Arg) c.870+7011A>G (n.870+7011A>G) | |
9 | g.124493079T>G | CA374882252 | NR5A1 | c.941A>C (p.Gln314Pro) c.293A>C (p.Gln98Pro) c.871-1851A>C (n.871-1851A>C) c.680A>C (p.Gln227Pro) c.870+7011A>C (n.870+7011A>C) | |
9 | g.124493080G>A | CA374882268 | NR5A1 | c.940C>T (p.Gln314Ter) c.292C>T (p.Gln98Ter) c.871-1852C>T (n.871-1852C>T) c.679C>T (p.Gln227Ter) c.870+7010C>T (n.870+7010C>T) | ClinVar |
9 | g.124493080G>C | CA374882265 | NR5A1 | c.940C>G (p.Gln314Glu) c.292C>G (p.Gln98Glu) c.871-1852C>G (n.871-1852C>G) c.679C>G (p.Gln227Glu) c.870+7010C>G (n.870+7010C>G) | |
9 | g.124493080G>T | CA374882269 | NR5A1 | c.940C>A (p.Gln314Lys) c.292C>A (p.Gln98Lys) c.871-1852C>A (n.871-1852C>A) c.679C>A (p.Gln227Lys) c.870+7010C>A (n.870+7010C>A) | |
9 | g.124493081G>A | CA467121305 | NR5A1 | c.939C>T (p.Arg313=) c.291C>T (p.Arg97=) c.871-1853C>T (n.871-1853C>T) c.678C>T (p.Arg226=) c.870+7009C>T (n.870+7009C>T) | |
9 | g.124493081G>C | CA467121306 | NR5A1 | c.939C>G (p.Arg313=) c.291C>G (p.Arg97=) c.871-1853C>G (n.871-1853C>G) c.678C>G (p.Arg226=) c.870+7009C>G (n.870+7009C>G) | |
9 | g.124493081G>T | CA467121307 | NR5A1 | c.939C>A (p.Arg313=) c.291C>A (p.Arg97=) c.871-1853C>A (n.871-1853C>A) c.678C>A (p.Arg226=) c.870+7009C>A (n.870+7009C>A) | |
9 | g.124493082C>A | CA374882273 | NR5A1 | c.938G>T (p.Arg313Leu) c.290G>T (p.Arg97Leu) c.871-1854G>T (n.871-1854G>T) c.677G>T (p.Arg226Leu) c.870+7008G>T (n.870+7008G>T) | ClinVar dbSNP gnomAD v4 |
9 | g.124493082C= | CA1878461921 | NR5A1 | c.938G= (p.Arg313=) c.290G= (p.Arg97=) c.871-1854G= (n.871-1854G=) c.677G= (p.Arg226=) c.870+7008G= (n.870+7008G=) | |
9 | g.124493082C>G | CA374882276 | NR5A1 | c.938G>C (p.Arg313Pro) c.290G>C (p.Arg97Pro) c.871-1854G>C (n.871-1854G>C) c.677G>C (p.Arg226Pro) c.870+7008G>C (n.870+7008G>C) | |
9 | g.124493082C>T | CA374882277 | NR5A1 | c.938G>A (p.Arg313His) c.290G>A (p.Arg97His) c.871-1854G>A (n.871-1854G>A) c.677G>A (p.Arg226His) c.870+7008G>A (n.870+7008G>A) | ClinVar dbSNP gnomAD v4 |
9 | g.124493083G>A | CA16042654 | NR5A1 | c.937C>T (p.Arg313Cys) c.289C>T (p.Arg97Cys) c.871-1855C>T (n.871-1855C>T) c.676C>T (p.Arg226Cys) c.870+7007C>T (n.870+7007C>T) | ClinVar dbSNP gnomAD v4 |
9 | g.124493083G>C | CA374882286 | NR5A1 | c.937C>G (p.Arg313Gly) c.289C>G (p.Arg97Gly) c.871-1855C>G (n.871-1855C>G) c.676C>G (p.Arg226Gly) c.870+7007C>G (n.870+7007C>G) | |
9 | g.124493083G= | CA1878461922 | NR5A1 | c.937C= (p.Arg313=) c.289C= (p.Arg97=) c.871-1855C= (n.871-1855C=) c.676C= (p.Arg226=) c.870+7007C= (n.870+7007C=) | |
9 | g.124493083G>T | CA374882289 | NR5A1 | c.937C>A (p.Arg313Ser) c.289C>A (p.Arg97Ser) c.871-1855C>A (n.871-1855C>A) c.676C>A (p.Arg226Ser) c.870+7007C>A (n.870+7007C>A) | |
9 | g.124493084G>A | CA467121308 | NR5A1 | c.936C>T (p.Tyr312=) c.288C>T (p.Tyr96=) c.871-1856C>T (n.871-1856C>T) c.675C>T (p.Tyr225=) c.870+7006C>T (n.870+7006C>T) | |
9 | g.124493084G>C | CA374882298 | NR5A1 | c.936C>G (p.Tyr312Ter) c.288C>G (p.Tyr96Ter) c.871-1856C>G (n.871-1856C>G) c.675C>G (p.Tyr225Ter) c.870+7006C>G (n.870+7006C>G) | |
9 | g.124493084G>T | CA374882300 | NR5A1 | c.936C>A (p.Tyr312Ter) c.288C>A (p.Tyr96Ter) c.871-1856C>A (n.871-1856C>A) c.675C>A (p.Tyr225Ter) c.870+7006C>A (n.870+7006C>A) | |
9 | g.124493085T>A | CA374882303 | NR5A1 | c.935A>T (p.Tyr312Phe) c.287A>T (p.Tyr96Phe) c.871-1857A>T (n.871-1857A>T) c.674A>T (p.Tyr225Phe) c.870+7005A>T (n.870+7005A>T) | |
9 | g.124493085T>C | CA374882306 | NR5A1 | c.935A>G (p.Tyr312Cys) c.287A>G (p.Tyr96Cys) c.871-1857A>G (n.871-1857A>G) c.674A>G (p.Tyr225Cys) c.870+7005A>G (n.870+7005A>G) | gnomAD v4 |
9 | g.124493085T>G | CA374882308 | NR5A1 | c.935A>C (p.Tyr312Ser) c.287A>C (p.Tyr96Ser) c.871-1857A>C (n.871-1857A>C) c.674A>C (p.Tyr225Ser) c.870+7005A>C (n.870+7005A>C) | |
9 | g.124493086A>C | CA374882315 | NR5A1 | c.934T>G (p.Tyr312Asp) c.286T>G (p.Tyr96Asp) c.871-1858T>G (n.871-1858T>G) c.673T>G (p.Tyr225Asp) c.870+7004T>G (n.870+7004T>G) | |
9 | g.124493086A>G | CA374882312 | NR5A1 | c.934T>C (p.Tyr312His) c.286T>C (p.Tyr96His) c.871-1858T>C (n.871-1858T>C) c.673T>C (p.Tyr225His) c.870+7004T>C (n.870+7004T>C) | |
9 | g.124493086A>T | CA374882311 | NR5A1 | c.934T>A (p.Tyr312Asn) c.286T>A (p.Tyr96Asn) c.871-1858T>A (n.871-1858T>A) c.673T>A (p.Tyr225Asn) c.870+7004T>A (n.870+7004T>A) | |
9 | g.124493087G>A | CA467121310 | NR5A1 | c.933C>T (p.Ile311=) c.285C>T (p.Ile95=) c.871-1859C>T (n.871-1859C>T) c.672C>T (p.Ile224=) c.870+7003C>T (n.870+7003C>T) | |
9 | g.124493087G>C | CA374882317 | NR5A1 | c.933C>G (p.Ile311Met) c.285C>G (p.Ile95Met) c.871-1859C>G (n.871-1859C>G) c.672C>G (p.Ile224Met) c.870+7003C>G (n.870+7003C>G) | |
9 | g.124493087G>T | CA467121311 | NR5A1 | c.933C>A (p.Ile311=) c.285C>A (p.Ile95=) c.871-1859C>A (n.871-1859C>A) c.672C>A (p.Ile224=) c.870+7003C>A (n.870+7003C>A) | |
9 | g.124493088A>C | CA374882320 | NR5A1 | c.932T>G (p.Ile311Ser) c.284T>G (p.Ile95Ser) c.871-1860T>G (n.871-1860T>G) c.671T>G (p.Ile224Ser) c.870+7002T>G (n.870+7002T>G) | |
9 | g.124493088A>G | CA374882322 | NR5A1 | c.932T>C (p.Ile311Thr) c.284T>C (p.Ile95Thr) c.871-1860T>C (n.871-1860T>C) c.671T>C (p.Ile224Thr) c.870+7002T>C (n.870+7002T>C) | |
9 | g.124493088A>T | CA374882324 | NR5A1 | c.932T>A (p.Ile311Asn) c.284T>A (p.Ile95Asn) c.871-1860T>A (n.871-1860T>A) c.671T>A (p.Ile224Asn) c.870+7002T>A (n.870+7002T>A) | |
9 | g.124493089T>A | CA374882327 | NR5A1 | c.931A>T (p.Ile311Phe) c.283A>T (p.Ile95Phe) c.871-1861A>T (n.871-1861A>T) c.670A>T (p.Ile224Phe) c.870+7001A>T (n.870+7001A>T) | |
9 | g.124493089T>C | CA374882329 | NR5A1 | c.931A>G (p.Ile311Val) c.283A>G (p.Ile95Val) c.871-1861A>G (n.871-1861A>G) c.670A>G (p.Ile224Val) c.870+7001A>G (n.870+7001A>G) | gnomAD v4 |
9 | g.124493089T>G | CA374882331 | NR5A1 | c.931A>C (p.Ile311Leu) c.283A>C (p.Ile95Leu) c.871-1861A>C (n.871-1861A>C) c.670A>C (p.Ile224Leu) c.870+7001A>C (n.870+7001A>C) | |
9 | g.124493090G>A | CA467121312 | NR5A1 | c.930C>T (p.His310=) c.282C>T (p.His94=) c.871-1862C>T (n.871-1862C>T) c.669C>T (p.His223=) c.870+7000C>T (n.870+7000C>T) | |
9 | g.124493090G>C | CA374882333 | NR5A1 | c.930C>G (p.His310Gln) c.282C>G (p.His94Gln) c.871-1862C>G (n.871-1862C>G) c.669C>G (p.His223Gln) c.870+7000C>G (n.870+7000C>G) | |
9 | g.124493090G>T | CA374882338 | NR5A1 | c.930C>A (p.His310Gln) c.282C>A (p.His94Gln) c.871-1862C>A (n.871-1862C>A) c.669C>A (p.His223Gln) c.870+7000C>A (n.870+7000C>A) | gnomAD v4 |
9 | g.124493091T>A | CA374882342 | NR5A1 | c.929A>T (p.His310Leu) c.281A>T (p.His94Leu) c.871-1863A>T (n.871-1863A>T) c.668A>T (p.His223Leu) c.870+6999A>T (n.870+6999A>T) | |
9 | g.124493091T>C | CA374882345 | NR5A1 | c.929A>G (p.His310Arg) c.281A>G (p.His94Arg) c.871-1863A>G (n.871-1863A>G) c.668A>G (p.His223Arg) c.870+6999A>G (n.870+6999A>G) | |
9 | g.124493091T>G | CA374882348 | NR5A1 | c.929A>C (p.His310Pro) c.281A>C (p.His94Pro) c.871-1863A>C (n.871-1863A>C) c.668A>C (p.His223Pro) c.870+6999A>C (n.870+6999A>C) | |
9 | g.124493092G>A | CA374882353 | NR5A1 | c.928C>T (p.His310Tyr) c.280C>T (p.His94Tyr) c.871-1864C>T (n.871-1864C>T) c.667C>T (p.His223Tyr) c.870+6998C>T (n.870+6998C>T) | |
9 | g.124493092G>C | CA374882355 | NR5A1 | c.928C>G (p.His310Asp) c.280C>G (p.His94Asp) c.871-1864C>G (n.871-1864C>G) c.667C>G (p.His223Asp) c.870+6998C>G (n.870+6998C>G) | |
9 | g.124493092G>T | CA374882351 | NR5A1 | c.928C>A (p.His310Asn) c.280C>A (p.His94Asn) c.871-1864C>A (n.871-1864C>A) c.667C>A (p.His223Asn) c.870+6998C>A (n.870+6998C>A) | |
9 | g.124493093G>A | CA467121314 | NR5A1 | c.927C>T (p.Asp309=) c.279C>T (p.Asp93=) c.871-1865C>T (n.871-1865C>T) c.666C>T (p.Asp222=) c.870+6997C>T (n.870+6997C>T) | gnomAD v4 |
9 | g.124493093G>C | CA374882360 | NR5A1 | c.927C>G (p.Asp309Glu) c.279C>G (p.Asp93Glu) c.871-1865C>G (n.871-1865C>G) c.666C>G (p.Asp222Glu) c.870+6997C>G (n.870+6997C>G) | |
9 | g.124493093G>T | CA374882361 | NR5A1 | c.927C>A (p.Asp309Glu) c.279C>A (p.Asp93Glu) c.871-1865C>A (n.871-1865C>A) c.666C>A (p.Asp222Glu) c.870+6997C>A (n.870+6997C>A) | |
9 | g.124493094T>A | CA374882365 | NR5A1 | c.926A>T (p.Asp309Val) c.278A>T (p.Asp93Val) c.871-1866A>T (n.871-1866A>T) c.665A>T (p.Asp222Val) c.870+6996A>T (n.870+6996A>T) | |
9 | g.124493094T>C | CA374882367 | NR5A1 | c.926A>G (p.Asp309Gly) c.278A>G (p.Asp93Gly) c.871-1866A>G (n.871-1866A>G) c.665A>G (p.Asp222Gly) c.870+6996A>G (n.870+6996A>G) | |
9 | g.124493094T>G | CA374882370 | NR5A1 | c.926A>C (p.Asp309Ala) c.278A>C (p.Asp93Ala) c.871-1866A>C (n.871-1866A>C) c.665A>C (p.Asp222Ala) c.870+6996A>C (n.870+6996A>C) | |
9 | g.124493095C>A | CA374882380 | NR5A1 | c.925G>T (p.Asp309Tyr) c.277G>T (p.Asp93Tyr) c.871-1867G>T (n.871-1867G>T) c.664G>T (p.Asp222Tyr) c.870+6995G>T (n.870+6995G>T) | gnomAD v4 |
9 | g.124493095C>G | CA374882376 | NR5A1 | c.925G>C (p.Asp309His) c.277G>C (p.Asp93His) c.871-1867G>C (n.871-1867G>C) c.664G>C (p.Asp222His) c.870+6995G>C (n.870+6995G>C) | |
9 | g.124493095C>T | CA374882373 | NR5A1 | c.925G>A (p.Asp309Asn) c.277G>A (p.Asp93Asn) c.871-1867G>A (n.871-1867G>A) c.664G>A (p.Asp222Asn) c.870+6995G>A (n.870+6995G>A) | gnomAD v4 COSMIC COSMIC |
9 | g.124493096G>A | CA5235347 | NR5A1 | c.924C>T (p.Phe308=) c.276C>T (p.Phe92=) c.871-1868C>T (n.871-1868C>T) c.663C>T (p.Phe221=) c.870+6994C>T (n.870+6994C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.124493096G>C | CA374882386 | NR5A1 | c.924C>G (p.Phe308Leu) c.276C>G (p.Phe92Leu) c.871-1868C>G (n.871-1868C>G) c.663C>G (p.Phe221Leu) c.870+6994C>G (n.870+6994C>G) | dbSNP |
9 | g.124493096G= | CA1878461923 | NR5A1 | c.924C= (p.Phe308=) c.276C= (p.Phe92=) c.871-1868C= (n.871-1868C=) c.663C= (p.Phe221=) c.870+6994C= (n.870+6994C=) | |
9 | g.124493096G>T | CA374882389 | NR5A1 | c.924C>A (p.Phe308Leu) c.276C>A (p.Phe92Leu) c.871-1868C>A (n.871-1868C>A) c.663C>A (p.Phe221Leu) c.870+6994C>A (n.870+6994C>A) | gnomAD v4 |
9 | g.124493097A>C | CA374882394 | NR5A1 | c.923T>G (p.Phe308Cys) c.275T>G (p.Phe92Cys) c.871-1869T>G (n.871-1869T>G) c.662T>G (p.Phe221Cys) c.870+6993T>G (n.870+6993T>G) | |
9 | g.124493097A>G | CA374882397 | NR5A1 | c.923T>C (p.Phe308Ser) c.275T>C (p.Phe92Ser) c.871-1869T>C (n.871-1869T>C) c.662T>C (p.Phe221Ser) c.870+6993T>C (n.870+6993T>C) | |
9 | g.124493097A>T | CA374882400 | NR5A1 | c.923T>A (p.Phe308Tyr) c.275T>A (p.Phe92Tyr) c.871-1869T>A (n.871-1869T>A) c.662T>A (p.Phe221Tyr) c.870+6993T>A (n.870+6993T>A) | |
9 | g.124493098A= | CA1878461924 | NR5A1 | c.922T= (p.Phe308=) c.274T= (p.Phe92=) c.871-1870T= (n.871-1870T=) c.661T= (p.Phe221=) c.870+6992T= (n.870+6992T=) | |
9 | g.124493098A>C | CA374882405 | NR5A1 | c.922T>G (p.Phe308Val) c.274T>G (p.Phe92Val) c.871-1870T>G (n.871-1870T>G) c.661T>G (p.Phe221Val) c.870+6992T>G (n.870+6992T>G) | |
9 | g.124493098A>G | CA374882408 | NR5A1 | c.922T>C (p.Phe308Leu) c.274T>C (p.Phe92Leu) c.871-1870T>C (n.871-1870T>C) c.661T>C (p.Phe221Leu) c.870+6992T>C (n.870+6992T>C) | |
9 | g.124493098A>T | CA374882407 | NR5A1 | c.922T>A (p.Phe308Ile) c.274T>A (p.Phe92Ile) c.871-1870T>A (n.871-1870T>A) c.661T>A (p.Phe221Ile) c.870+6992T>A (n.870+6992T>A) | dbSNP |
9 | g.124493099C>A | CA467121315 | NR5A1 | c.921G>T (p.Val307=) c.273G>T (p.Val91=) c.871-1871G>T (n.871-1871G>T) c.660G>T (p.Val220=) c.870+6991G>T (n.870+6991G>T) | |
9 | g.124493099C>G | CA467121316 | NR5A1 | c.921G>C (p.Val307=) c.273G>C (p.Val91=) c.871-1871G>C (n.871-1871G>C) c.660G>C (p.Val220=) c.870+6991G>C (n.870+6991G>C) | |
9 | g.124493099C>T | CA467121317 | NR5A1 | c.921G>A (p.Val307=) c.273G>A (p.Val91=) c.871-1871G>A (n.871-1871G>A) c.660G>A (p.Val220=) c.870+6991G>A (n.870+6991G>A) | |
9 | g.124493100A>C | CA374882409 | NR5A1 | c.920T>G (p.Val307Gly) c.272T>G (p.Val91Gly) c.871-1872T>G (n.871-1872T>G) c.659T>G (p.Val220Gly) c.870+6990T>G (n.870+6990T>G) | |
9 | g.124493100A>G | CA374882410 | NR5A1 | c.920T>C (p.Val307Ala) c.272T>C (p.Val91Ala) c.871-1872T>C (n.871-1872T>C) c.659T>C (p.Val220Ala) c.870+6990T>C (n.870+6990T>C) | |
9 | g.124493100A>T | CA374882411 | NR5A1 | c.920T>A (p.Val307Glu) c.272T>A (p.Val91Glu) c.871-1872T>A (n.871-1872T>A) c.659T>A (p.Val220Glu) c.870+6990T>A (n.870+6990T>A) | |
9 | g.124493101C>A | CA374882416 | NR5A1 | c.919G>T (p.Val307Leu) c.271G>T (p.Val91Leu) c.871-1873G>T (n.871-1873G>T) c.658G>T (p.Val220Leu) c.870+6989G>T (n.870+6989G>T) | |
9 | g.124493101C>G | CA374882418 | NR5A1 | c.919G>C (p.Val307Leu) c.271G>C (p.Val91Leu) c.871-1873G>C (n.871-1873G>C) c.658G>C (p.Val220Leu) c.870+6989G>C (n.870+6989G>C) | |
9 | g.124493101C>T | CA374882421 | NR5A1 | c.919G>A (p.Val307Met) c.271G>A (p.Val91Met) c.871-1873G>A (n.871-1873G>A) c.658G>A (p.Val220Met) c.870+6989G>A (n.870+6989G>A) | |
9 | g.124493102C>A | CA467121318 | NR5A1 | c.918G>T (p.Leu306=) c.270G>T (p.Leu90=) c.871-1874G>T (n.871-1874G>T) c.657G>T (p.Leu219=) c.870+6988G>T (n.870+6988G>T) | |
9 | g.124493102C= | CA1878461925 | NR5A1 | c.918G= (p.Leu306=) c.270G= (p.Leu90=) c.871-1874G= (n.871-1874G=) c.657G= (p.Leu219=) c.870+6988G= (n.870+6988G=) | |
9 | g.124493102C>G | CA467121319 | NR5A1 | c.918G>C (p.Leu306=) c.270G>C (p.Leu90=) c.871-1874G>C (n.871-1874G>C) c.657G>C (p.Leu219=) c.870+6988G>C (n.870+6988G>C) | |
9 | g.124493102C>T | CA5235348 | NR5A1 | c.918G>A (p.Leu306=) c.270G>A (p.Leu90=) c.871-1874G>A (n.871-1874G>A) c.657G>A (p.Leu219=) c.870+6988G>A (n.870+6988G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
9 | g.124493103A>C | CA374882428 | NR5A1 | c.917T>G (p.Leu306Arg) c.269T>G (p.Leu90Arg) c.871-1875T>G (n.871-1875T>G) c.656T>G (p.Leu219Arg) c.870+6987T>G (n.870+6987T>G) | |
9 | g.124493103A>G | CA374882431 | NR5A1 | c.917T>C (p.Leu306Pro) c.269T>C (p.Leu90Pro) c.871-1875T>C (n.871-1875T>C) c.656T>C (p.Leu219Pro) c.870+6987T>C (n.870+6987T>C) | |
9 | g.124493103A>T | CA374882434 | NR5A1 | c.917T>A (p.Leu306Gln) c.269T>A (p.Leu90Gln) c.871-1875T>A (n.871-1875T>A) c.656T>A (p.Leu219Gln) c.870+6987T>A (n.870+6987T>A) | |
9 | g.124493104G>A | CA467121320 | NR5A1 | c.916C>T (p.Leu306=) c.268C>T (p.Leu90=) c.871-1876C>T (n.871-1876C>T) c.655C>T (p.Leu219=) c.870+6986C>T (n.870+6986C>T) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.124493104G>C | CA374882439 | NR5A1 | c.916C>G (p.Leu306Val) c.268C>G (p.Leu90Val) c.871-1876C>G (n.871-1876C>G) c.655C>G (p.Leu219Val) c.870+6986C>G (n.870+6986C>G) | |
9 | g.124493104G= | CA1878461926 | NR5A1 | c.916C= (p.Leu306=) c.268C= (p.Leu90=) c.871-1876C= (n.871-1876C=) c.655C= (p.Leu219=) c.870+6986C= (n.870+6986C=) | |
9 | g.124493104G>T | CA374882441 | NR5A1 | c.916C>A (p.Leu306Met) c.268C>A (p.Leu90Met) c.871-1876C>A (n.871-1876C>A) c.655C>A (p.Leu219Met) c.870+6986C>A (n.870+6986C>A) | |
9 | g.124493105C>A | CA467121321 | NR5A1 | c.915G>T (p.Leu305=) c.267G>T (p.Leu89=) c.871-1877G>T (n.871-1877G>T) c.654G>T (p.Leu218=) c.870+6985G>T (n.870+6985G>T) | |
9 | g.124493105C>G | CA467121322 | NR5A1 | c.915G>C (p.Leu305=) c.267G>C (p.Leu89=) c.871-1877G>C (n.871-1877G>C) c.654G>C (p.Leu218=) c.870+6985G>C (n.870+6985G>C) | |
9 | g.124493105C>T | CA467121323 | NR5A1 | c.915G>A (p.Leu305=) c.267G>A (p.Leu89=) c.871-1877G>A (n.871-1877G>A) c.654G>A (p.Leu218=) c.870+6985G>A (n.870+6985G>A) | gnomAD v4 |
9 | g.124493106A>C | CA374882451 | NR5A1 | c.914T>G (p.Leu305Arg) c.266T>G (p.Leu89Arg) c.871-1878T>G (n.871-1878T>G) c.653T>G (p.Leu218Arg) c.870+6984T>G (n.870+6984T>G) | |
9 | g.124493106A>G | CA374882449 | NR5A1 | c.914T>C (p.Leu305Pro) c.266T>C (p.Leu89Pro) c.871-1878T>C (n.871-1878T>C) c.653T>C (p.Leu218Pro) c.870+6984T>C (n.870+6984T>C) | |
9 | g.124493106A>T | CA374882447 | NR5A1 | c.914T>A (p.Leu305Gln) c.266T>A (p.Leu89Gln) c.871-1878T>A (n.871-1878T>A) c.653T>A (p.Leu218Gln) c.870+6984T>A (n.870+6984T>A) | |
9 | g.124493107G>A | CA467121324 | NR5A1 | c.913C>T (p.Leu305=) c.265C>T (p.Leu89=) c.871-1879C>T (n.871-1879C>T) c.652C>T (p.Leu218=) c.870+6983C>T (n.870+6983C>T) | |
9 | g.124493107G>C | CA374882454 | NR5A1 | c.913C>G (p.Leu305Val) c.265C>G (p.Leu89Val) c.871-1879C>G (n.871-1879C>G) c.652C>G (p.Leu218Val) c.870+6983C>G (n.870+6983C>G) | |
9 | g.124493107G>T | CA374882461 | NR5A1 | c.913C>A (p.Leu305Met) c.265C>A (p.Leu89Met) c.871-1879C>A (n.871-1879C>A) c.652C>A (p.Leu218Met) c.870+6983C>A (n.870+6983C>A) | |
9 | g.124493111_124493114del | CA2695211071 | NR5A1 | c.910_913del (p.Glu304CysfsTer29) c.262_265del (p.Glu88CysfsTer29) c.871-1882_871-1879del (n.871-1882_871-1879del) c.649_652del (p.Glu217CysfsTer29) c.870+6980_870+6983del (n.870+6980_870+6983del) | |
9 | g.124493108C>A | CA374882462 | NR5A1 | c.912G>T (p.Glu304Asp) c.264G>T (p.Glu88Asp) c.871-1880G>T (n.871-1880G>T) c.651G>T (p.Glu217Asp) c.870+6982G>T (n.870+6982G>T) | |
9 | g.124493108C= | CA1878461927 | NR5A1 | c.912G= (p.Glu304=) c.264G= (p.Glu88=) c.871-1880G= (n.871-1880G=) c.651G= (p.Glu217=) c.870+6982G= (n.870+6982G=) | |
9 | g.124493108C>G | CA374882463 | NR5A1 | c.912G>C (p.Glu304Asp) c.264G>C (p.Glu88Asp) c.871-1880G>C (n.871-1880G>C) c.651G>C (p.Glu217Asp) c.870+6982G>C (n.870+6982G>C) | |
9 | g.124493108C>T | CA5235349 | NR5A1 | c.912G>A (p.Glu304=) c.264G>A (p.Glu88=) c.871-1880G>A (n.871-1880G>A) c.651G>A (p.Glu217=) c.870+6982G>A (n.870+6982G>A) | dbSNP ExAC gnomAD v4 |
9 | g.124493109T>A | CA374882464 | NR5A1 | c.911A>T (p.Glu304Val) c.263A>T (p.Glu88Val) c.871-1881A>T (n.871-1881A>T) c.650A>T (p.Glu217Val) c.870+6981A>T (n.870+6981A>T) | |
9 | g.124493109T>C | CA374882466 | NR5A1 | c.911A>G (p.Glu304Gly) c.263A>G (p.Glu88Gly) c.871-1881A>G (n.871-1881A>G) c.650A>G (p.Glu217Gly) c.870+6981A>G (n.870+6981A>G) | |
9 | g.124493109T>G | CA374882467 | NR5A1 | c.911A>C (p.Glu304Ala) c.263A>C (p.Glu88Ala) c.871-1881A>C (n.871-1881A>C) c.650A>C (p.Glu217Ala) c.870+6981A>C (n.870+6981A>C) | |
9 | g.124493110C>A | CA374882468 | NR5A1 | c.910G>T (p.Glu304Ter) c.262G>T (p.Glu88Ter) c.871-1882G>T (n.871-1882G>T) c.649G>T (p.Glu217Ter) c.870+6980G>T (n.870+6980G>T) | |
9 | g.124493110C= | CA1878461928 | NR5A1 | c.910G= (p.Glu304=) c.262G= (p.Glu88=) c.871-1882G= (n.871-1882G=) c.649G= (p.Glu217=) c.870+6980G= (n.870+6980G=) | |
9 | g.124493110C>G | CA374882472 | NR5A1 | c.910G>C (p.Glu304Gln) c.262G>C (p.Glu88Gln) c.871-1882G>C (n.871-1882G>C) c.649G>C (p.Glu217Gln) c.870+6980G>C (n.870+6980G>C) | |
9 | g.124493110C>T | CA5235350 | NR5A1 | c.910G>A (p.Glu304Lys) c.262G>A (p.Glu88Lys) c.871-1882G>A (n.871-1882G>A) c.649G>A (p.Glu217Lys) c.870+6980G>A (n.870+6980G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.124493111G>A | CA5235351 | NR5A1 | c.909C>T (p.Ser303=) c.261C>T (p.Ser87=) c.871-1883C>T (n.871-1883C>T) c.648C>T (p.Ser216=) c.870+6979C>T (n.870+6979C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.124493111G>C | CA374882488 | NR5A1 | c.909C>G (p.Ser303Arg) c.261C>G (p.Ser87Arg) c.871-1883C>G (n.871-1883C>G) c.648C>G (p.Ser216Arg) c.870+6979C>G (n.870+6979C>G) | |
9 | g.124493111G= | CA1878461929 | NR5A1 | c.909C= (p.Ser303=) c.261C= (p.Ser87=) c.871-1883C= (n.871-1883C=) c.648C= (p.Ser216=) c.870+6979C= (n.870+6979C=) | |
9 | g.124493111G>T | CA374882491 | NR5A1 | c.909C>A (p.Ser303Arg) c.261C>A (p.Ser87Arg) c.871-1883C>A (n.871-1883C>A) c.648C>A (p.Ser216Arg) c.870+6979C>A (n.870+6979C>A) | ClinVar dbSNP |
9 | g.124493112C>A | CA374882499 | NR5A1 | c.908G>T (p.Ser303Ile) c.260G>T (p.Ser87Ile) c.871-1884G>T (n.871-1884G>T) c.647G>T (p.Ser216Ile) c.870+6978G>T (n.870+6978G>T) | |
9 | g.124493112C>G | CA374882493 | NR5A1 | c.908G>C (p.Ser303Thr) c.260G>C (p.Ser87Thr) c.871-1884G>C (n.871-1884G>C) c.647G>C (p.Ser216Thr) c.870+6978G>C (n.870+6978G>C) | |
9 | g.124493112C>T | CA374882495 | NR5A1 | c.908G>A (p.Ser303Asn) c.260G>A (p.Ser87Asn) c.871-1884G>A (n.871-1884G>A) c.647G>A (p.Ser216Asn) c.870+6978G>A (n.870+6978G>A) | ClinVar |
9 | g.124493113T>A | CA374882502 | NR5A1 | c.907A>T (p.Ser303Cys) c.259A>T (p.Ser87Cys) c.871-1885A>T (n.871-1885A>T) c.646A>T (p.Ser216Cys) c.870+6977A>T (n.870+6977A>T) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.124493113T>C | CA374882512 | NR5A1 | c.907A>G (p.Ser303Gly) c.259A>G (p.Ser87Gly) c.871-1885A>G (n.871-1885A>G) c.646A>G (p.Ser216Gly) c.870+6977A>G (n.870+6977A>G) | |
9 | g.124493113T>G | CA374882513 | NR5A1 | c.907A>C (p.Ser303Arg) c.259A>C (p.Ser87Arg) c.871-1885A>C (n.871-1885A>C) c.646A>C (p.Ser216Arg) c.870+6977A>C (n.870+6977A>C) | ClinVar |
9 | g.124493113T= | CA1878461930 | NR5A1 | c.907A= (p.Ser303=) c.259A= (p.Ser87=) c.871-1885A= (n.871-1885A=) c.646A= (p.Ser216=) c.870+6977A= (n.870+6977A=) | |
9 | g.124493114C>A | CA374882521 | NR5A1 | c.906G>T (p.Trp302Cys) c.258G>T (p.Trp86Cys) c.871-1886G>T (n.871-1886G>T) c.645G>T (p.Trp215Cys) c.870+6976G>T (n.870+6976G>T) | |
9 | g.124493114C>G | CA374882525 | NR5A1 | c.906G>C (p.Trp302Cys) c.258G>C (p.Trp86Cys) c.871-1886G>C (n.871-1886G>C) c.645G>C (p.Trp215Cys) c.870+6976G>C (n.870+6976G>C) | |
9 | g.124493114C>T | CA374882528 | NR5A1 | c.906G>A (p.Trp302Ter) c.258G>A (p.Trp86Ter) c.871-1886G>A (n.871-1886G>A) c.645G>A (p.Trp215Ter) c.870+6976G>A (n.870+6976G>A) | |
9 | g.124493115C>A | CA374882531 | NR5A1 | c.905G>T (p.Trp302Leu) c.257G>T (p.Trp86Leu) c.871-1887G>T (n.871-1887G>T) c.644G>T (p.Trp215Leu) c.870+6975G>T (n.870+6975G>T) | |
9 | g.124493115C>G | CA374882532 | NR5A1 | c.905G>C (p.Trp302Ser) c.257G>C (p.Trp86Ser) c.871-1887G>C (n.871-1887G>C) c.644G>C (p.Trp215Ser) c.870+6975G>C (n.870+6975G>C) | |
9 | g.124493115C>T | CA374882533 | NR5A1 | c.905G>A (p.Trp302Ter) c.257G>A (p.Trp86Ter) c.871-1887G>A (n.871-1887G>A) c.644G>A (p.Trp215Ter) c.870+6975G>A (n.870+6975G>A) | |
9 | g.124493116A>C | CA374882535 | NR5A1 | c.904T>G (p.Trp302Gly) c.256T>G (p.Trp86Gly) c.871-1888T>G (n.871-1888T>G) c.643T>G (p.Trp215Gly) c.870+6974T>G (n.870+6974T>G) | |
9 | g.124493116A>G | CA374882537 | NR5A1 | c.904T>C (p.Trp302Arg) c.256T>C (p.Trp86Arg) c.871-1888T>C (n.871-1888T>C) c.643T>C (p.Trp215Arg) c.870+6974T>C (n.870+6974T>C) | |
9 | g.124493116A>T | CA374882541 | NR5A1 | c.904T>A (p.Trp302Arg) c.256T>A (p.Trp86Arg) c.871-1888T>A (n.871-1888T>A) c.643T>A (p.Trp215Arg) c.870+6974T>A (n.870+6974T>A) | |
9 | g.124493117G>A | CA199722602 | NR5A1 | c.903C>T (p.Cys301=) c.255C>T (p.Cys85=) c.871-1889C>T (n.871-1889C>T) c.642C>T (p.Cys214=) c.870+6973C>T (n.870+6973C>T) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.124493117G>C | CA374882545 | NR5A1 | c.903C>G (p.Cys301Trp) c.255C>G (p.Cys85Trp) c.871-1889C>G (n.871-1889C>G) c.642C>G (p.Cys214Trp) c.870+6973C>G (n.870+6973C>G) | |
9 | g.124493117G= | CA1878461931 | NR5A1 | c.903C= (p.Cys301=) c.255C= (p.Cys85=) c.871-1889C= (n.871-1889C=) c.642C= (p.Cys214=) c.870+6973C= (n.870+6973C=) | |
9 | g.124493117G>T | CA374882544 | NR5A1 | c.903C>A (p.Cys301Ter) c.255C>A (p.Cys85Ter) c.871-1889C>A (n.871-1889C>A) c.642C>A (p.Cys214Ter) c.870+6973C>A (n.870+6973C>A) | gnomAD v4 |
9 | g.124493118del | CA2785906050 | NR5A1 | c.902del (p.Cys301SerfsTer?) c.254del (p.Cys85SerfsTer?) c.871-1890del (n.871-1890del) c.641del (p.Cys214SerfsTer?) c.870+6972del (n.870+6972del) | |
9 | g.124493118C>A | CA374882546 | NR5A1 | c.902G>T (p.Cys301Phe) c.254G>T (p.Cys85Phe) c.871-1890G>T (n.871-1890G>T) c.641G>T (p.Cys214Phe) c.870+6972G>T (n.870+6972G>T) | |
9 | g.124493118C>G | CA374882548 | NR5A1 | c.902G>C (p.Cys301Ser) c.254G>C (p.Cys85Ser) c.871-1890G>C (n.871-1890G>C) c.641G>C (p.Cys214Ser) c.870+6972G>C (n.870+6972G>C) | |
9 | g.124493118C>T | CA374882550 | NR5A1 | c.902G>A (p.Cys301Tyr) c.254G>A (p.Cys85Tyr) c.871-1890G>A (n.871-1890G>A) c.641G>A (p.Cys214Tyr) c.870+6972G>A (n.870+6972G>A) | |
9 | g.124493119A>C | CA374882555 | NR5A1 | c.901T>G (p.Cys301Gly) c.253T>G (p.Cys85Gly) c.871-1891T>G (n.871-1891T>G) c.640T>G (p.Cys214Gly) c.870+6971T>G (n.870+6971T>G) | |
9 | g.124493119A>G | CA374882557 | NR5A1 | c.901T>C (p.Cys301Arg) c.253T>C (p.Cys85Arg) c.871-1891T>C (n.871-1891T>C) c.640T>C (p.Cys214Arg) c.870+6971T>C (n.870+6971T>C) | |
9 | g.124493119A>T | CA374882561 | NR5A1 | c.901T>A (p.Cys301Ser) c.253T>A (p.Cys85Ser) c.871-1891T>A (n.871-1891T>A) c.640T>A (p.Cys214Ser) c.870+6971T>A (n.870+6971T>A) | |
9 | g.124493120G>A | CA467121325 | NR5A1 | c.900C>T (p.Asn300=) c.252C>T (p.Asn84=) c.871-1892C>T (n.871-1892C>T) c.639C>T (p.Asn213=) c.870+6970C>T (n.870+6970C>T) | |
9 | g.124493120G>C | CA374882564 | NR5A1 | c.900C>G (p.Asn300Lys) c.252C>G (p.Asn84Lys) c.871-1892C>G (n.871-1892C>G) c.639C>G (p.Asn213Lys) c.870+6970C>G (n.870+6970C>G) | |
9 | g.124493120G>T | CA374882566 | NR5A1 | c.900C>A (p.Asn300Lys) c.252C>A (p.Asn84Lys) c.871-1892C>A (n.871-1892C>A) c.639C>A (p.Asn213Lys) c.870+6970C>A (n.870+6970C>A) | |
9 | g.124493121T>A | CA374882571 | NR5A1 | c.899A>T (p.Asn300Ile) c.251A>T (p.Asn84Ile) c.871-1893A>T (n.871-1893A>T) c.638A>T (p.Asn213Ile) c.870+6969A>T (n.870+6969A>T) | |
9 | g.124493121T>C | CA374882574 | NR5A1 | c.899A>G (p.Asn300Ser) c.251A>G (p.Asn84Ser) c.871-1893A>G (n.871-1893A>G) c.638A>G (p.Asn213Ser) c.870+6969A>G (n.870+6969A>G) | gnomAD v4 |
9 | g.124493121T>G | CA374882576 | NR5A1 | c.899A>C (p.Asn300Thr) c.251A>C (p.Asn84Thr) c.871-1893A>C (n.871-1893A>C) c.638A>C (p.Asn213Thr) c.870+6969A>C (n.870+6969A>C) | |
9 | g.124493122T>A | CA374882581 | NR5A1 | c.898A>T (p.Asn300Tyr) c.250A>T (p.Asn84Tyr) c.871-1894A>T (n.871-1894A>T) c.637A>T (p.Asn213Tyr) c.870+6968A>T (n.870+6968A>T) | |
9 | g.124493122T>C | CA374882584 | NR5A1 | c.898A>G (p.Asn300Asp) c.250A>G (p.Asn84Asp) c.871-1894A>G (n.871-1894A>G) c.637A>G (p.Asn213Asp) c.870+6968A>G (n.870+6968A>G) | |
9 | g.124493122T>G | CA374882587 | NR5A1 | c.898A>C (p.Asn300His) c.250A>C (p.Asn84His) c.871-1894A>C (n.871-1894A>C) c.637A>C (p.Asn213His) c.870+6968A>C (n.870+6968A>C) | |
9 | g.124493123C>A | CA374882592 | NR5A1 | c.897G>T (p.Gln299His) c.249G>T (p.Gln83His) c.871-1895G>T (n.871-1895G>T) c.636G>T (p.Gln212His) c.870+6967G>T (n.870+6967G>T) | |
9 | g.124493123C>G | CA374882589 | NR5A1 | c.897G>C (p.Gln299His) c.249G>C (p.Gln83His) c.871-1895G>C (n.871-1895G>C) c.636G>C (p.Gln212His) c.870+6967G>C (n.870+6967G>C) | |
9 | g.124493123C>T | CA467121326 | NR5A1 | c.897G>A (p.Gln299=) c.249G>A (p.Gln83=) c.871-1895G>A (n.871-1895G>A) c.636G>A (p.Gln212=) c.870+6967G>A (n.870+6967G>A) | |
9 | g.124493124_124493126del | CA2573143852 | NR5A1 | c.895_897del (p.Gln299del) c.247_249del (p.Gln83del) c.871-1897_871-1895del (n.871-1897_871-1895del) c.634_636del (p.Gln212del) c.870+6965_870+6967del (n.870+6965_870+6967del) | ClinVar dbSNP |
9 | g.124493123_124493124insA | CA2695211075 | NR5A1 | c.896_897insT (p.Gln299HisfsTer?) c.248_249insT (p.Gln83HisfsTer?) c.871-1896_871-1895insT (n.871-1896_871-1895insT) c.635_636insT (p.Gln212HisfsTer?) c.870+6966_870+6967insT (n.870+6966_870+6967insT) | |
9 | g.124493124T>A | CA374882596 | NR5A1 | c.896A>T (p.Gln299Leu) c.248A>T (p.Gln83Leu) c.871-1896A>T (n.871-1896A>T) c.635A>T (p.Gln212Leu) c.870+6966A>T (n.870+6966A>T) | |
9 | g.124493124T>C | CA374882599 | NR5A1 | c.896A>G (p.Gln299Arg) c.248A>G (p.Gln83Arg) c.871-1896A>G (n.871-1896A>G) c.635A>G (p.Gln212Arg) c.870+6966A>G (n.870+6966A>G) | dbSNP gnomAD v2 |
9 | g.124493124T>G | CA374882602 | NR5A1 | c.896A>C (p.Gln299Pro) c.248A>C (p.Gln83Pro) c.871-1896A>C (n.871-1896A>C) c.635A>C (p.Gln212Pro) c.870+6966A>C (n.870+6966A>C) | |
9 | g.124493124T= | CA1878461932 | NR5A1 | c.896A= (p.Gln299=) c.248A= (p.Gln83=) c.871-1896A= (n.871-1896A=) c.635A= (p.Gln212=) c.870+6966A= (n.870+6966A=) | |
9 | g.124493125del | CA2695211076 | NR5A1 | c.895del (p.Gln299ArgfsTer?) c.247del (p.Gln83ArgfsTer?) c.871-1897del (n.871-1897del) c.634del (p.Gln212ArgfsTer?) c.870+6965del (n.870+6965del) | |
9 | g.124493125G>A | CA374882603 | NR5A1 | c.895C>T (p.Gln299Ter) c.247C>T (p.Gln83Ter) c.871-1897C>T (n.871-1897C>T) c.634C>T (p.Gln212Ter) c.870+6965C>T (n.870+6965C>T) | ClinVar dbSNP |
9 | g.124493125G>C | CA374882604 | NR5A1 | c.895C>G (p.Gln299Glu) c.247C>G (p.Gln83Glu) c.871-1897C>G (n.871-1897C>G) c.634C>G (p.Gln212Glu) c.870+6965C>G (n.870+6965C>G) | |
9 | g.124493125G= | CA1878461933 | NR5A1 | c.895C= (p.Gln299=) c.247C= (p.Gln83=) c.871-1897C= (n.871-1897C=) c.634C= (p.Gln212=) c.870+6965C= (n.870+6965C=) | |
9 | g.124493125G>T | CA374882606 | NR5A1 | c.895C>A (p.Gln299Lys) c.247C>A (p.Gln83Lys) c.871-1897C>A (n.871-1897C>A) c.634C>A (p.Gln212Lys) c.870+6965C>A (n.870+6965C>A) | dbSNP gnomAD v4 |
9 | g.124493126C>A | CA467121327 | NR5A1 | c.894G>T (p.Leu298=) c.246G>T (p.Leu82=) c.871-1898G>T (n.871-1898G>T) c.633G>T (p.Leu211=) c.870+6964G>T (n.870+6964G>T) | |
9 | g.124493126C>G | CA467121328 | NR5A1 | c.894G>C (p.Leu298=) c.246G>C (p.Leu82=) c.871-1898G>C (n.871-1898G>C) c.633G>C (p.Leu211=) c.870+6964G>C (n.870+6964G>C) | |
9 | g.124493126C>T | CA467121329 | NR5A1 | c.894G>A (p.Leu298=) c.246G>A (p.Leu82=) c.871-1898G>A (n.871-1898G>A) c.633G>A (p.Leu211=) c.870+6964G>A (n.870+6964G>A) | gnomAD v4 |
9 | g.124493127A>C | CA374882609 | NR5A1 | c.893T>G (p.Leu298Arg) c.245T>G (p.Leu82Arg) c.871-1899T>G (n.871-1899T>G) c.632T>G (p.Leu211Arg) c.870+6963T>G (n.870+6963T>G) | gnomAD v4 |
9 | g.124493127A>G | CA374882611 | NR5A1 | c.893T>C (p.Leu298Pro) c.245T>C (p.Leu82Pro) c.871-1899T>C (n.871-1899T>C) c.632T>C (p.Leu211Pro) c.870+6963T>C (n.870+6963T>C) | |
9 | g.124493127A>T | CA374882615 | NR5A1 | c.893T>A (p.Leu298Gln) c.245T>A (p.Leu82Gln) c.871-1899T>A (n.871-1899T>A) c.632T>A (p.Leu211Gln) c.870+6963T>A (n.870+6963T>A) | |
9 | g.124493128G>A | CA467121330 | NR5A1 | c.892C>T (p.Leu298=) c.244C>T (p.Leu82=) c.871-1900C>T (n.871-1900C>T) c.631C>T (p.Leu211=) c.870+6962C>T (n.870+6962C>T) | |
9 | g.124493128G>C | CA374882618 | NR5A1 | c.892C>G (p.Leu298Val) c.244C>G (p.Leu82Val) c.871-1900C>G (n.871-1900C>G) c.631C>G (p.Leu211Val) c.870+6962C>G (n.870+6962C>G) | |
9 | g.124493128G>T | CA374882621 | NR5A1 | c.892C>A (p.Leu298Met) c.244C>A (p.Leu82Met) c.871-1900C>A (n.871-1900C>A) c.631C>A (p.Leu211Met) c.870+6962C>A (n.870+6962C>A) |