Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.133777037_133777038insGAGGTGCTGT | CA2667772262 | TF | c.1873-12_1873-11insGAGGTGCTGT (n.1873-12_1873-11insGAGGTGCTGT) c.604-12_604-11insGAGGTGCTGT n.2867-12_2867-11insGAGGTGCTGT c.1741-12_1741-11insGAGGTGCTGT (n.1741-12_1741-11insGAGGTGCTGT) c.1492-12_1492-11insGAGGTGCTGT (n.1492-12_1492-11insGAGGTGCTGT) | gnomAD v4 |
3 | g.133777035T>C | CA899132514 | TF | c.1873-14T>C (n.1873-14T>C) c.604-14T>C n.2867-14T>C c.1741-14T>C (n.1741-14T>C) c.1492-14T>C (n.1492-14T>C) | dbSNP |
3 | g.133777035T= | CA1403124671 | TF | c.1873-14T= (n.1873-14T=) c.604-14T= n.2867-14T= c.1741-14T= (n.1741-14T=) c.1492-14T= (n.1492-14T=) | |
3 | g.133777038T>C | CA83694194 | TF | c.1873-11T>C (n.1873-11T>C) c.604-11T>C n.2867-11T>C c.1741-11T>C (n.1741-11T>C) c.1492-11T>C (n.1492-11T>C) | dbSNP |
3 | g.133777038T= | CA1403124674 | TF | c.1873-11T= (n.1873-11T=) c.604-11T= n.2867-11T= c.1741-11T= (n.1741-11T=) c.1492-11T= (n.1492-11T=) | |
3 | g.133777040A>C | CA2667772263 | TF | c.1873-9A>C (n.1873-9A>C) c.604-9A>C n.2867-9A>C c.1741-9A>C (n.1741-9A>C) c.1492-9A>C (n.1492-9A>C) | gnomAD v4 |
3 | g.133777040A>G | CA2697556851 | TF | c.1873-9A>G (n.1873-9A>G) c.604-9A>G n.2867-9A>G c.1741-9A>G (n.1741-9A>G) c.1492-9A>G (n.1492-9A>G) | ClinVar |
3 | g.133777041C= | CA1403124676 | TF | c.1873-8C= (n.1873-8C=) c.604-8C= n.2867-8C= c.1741-8C= (n.1741-8C=) c.1492-8C= (n.1492-8C=) | |
3 | g.133777041C>G | CA2667772264 | TF | c.1873-8C>G (n.1873-8C>G) c.604-8C>G n.2867-8C>G c.1741-8C>G (n.1741-8C>G) c.1492-8C>G (n.1492-8C>G) | gnomAD v4 |
3 | g.133777041C>T | CA2625442 | TF | c.1873-8C>T (n.1873-8C>T) c.604-8C>T n.2867-8C>T c.1741-8C>T (n.1741-8C>T) c.1492-8C>T (n.1492-8C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.133777042T>C | CA546420588 | TF | c.1873-7T>C (n.1873-7T>C) c.604-7T>C n.2867-7T>C c.1741-7T>C (n.1741-7T>C) c.1492-7T>C (n.1492-7T>C) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.133777042T>G | CA2667772265 | TF | c.1873-7T>G (n.1873-7T>G) c.604-7T>G n.2867-7T>G c.1741-7T>G (n.1741-7T>G) c.1492-7T>G (n.1492-7T>G) | gnomAD v4 |
3 | g.133777042T= | CA1403124680 | TF | c.1873-7T= (n.1873-7T=) c.604-7T= n.2867-7T= c.1741-7T= (n.1741-7T=) c.1492-7T= (n.1492-7T=) | |
3 | g.133777043T>C | CA2667772266 | TF | c.1873-6T>C (n.1873-6T>C) c.604-6T>C n.2867-6T>C c.1741-6T>C (n.1741-6T>C) c.1492-6T>C (n.1492-6T>C) | gnomAD v4 |
3 | g.133777046C= | CA1403124682 | TF | c.1873-3C= (n.1873-3C=) c.604-3C= n.2867-3C= c.1741-3C= (n.1741-3C=) c.1492-3C= (n.1492-3C=) | |
3 | g.133777046C>T | CA83694200 | TF | c.1873-3C>T (n.1873-3C>T) c.604-3C>T n.2867-3C>T c.1741-3C>T (n.1741-3C>T) c.1492-3C>T (n.1492-3C>T) | dbSNP gnomAD v4 |
3 | g.133777047A>C | CA354610810 | TF | c.1873-2A>C (n.1873-2A>C) c.604-2A>C n.2867-2A>C c.1741-2A>C (n.1741-2A>C) c.1492-2A>C (n.1492-2A>C) | |
3 | g.133777047A>G | CA354610812 | TF | c.1873-2A>G (n.1873-2A>G) c.604-2A>G n.2867-2A>G c.1741-2A>G (n.1741-2A>G) c.1492-2A>G (n.1492-2A>G) | |
3 | g.133777047A>T | CA354610807 | TF | c.1873-2A>T (n.1873-2A>T) c.604-2A>T n.2867-2A>T c.1741-2A>T (n.1741-2A>T) c.1492-2A>T (n.1492-2A>T) | |
3 | g.133777048G>A | CA354610815 | TF | c.1873-1G>A (n.1873-1G>A) c.604-1G>A n.2867-1G>A c.1741-1G>A (n.1741-1G>A) c.1492-1G>A (n.1492-1G>A) | COSMIC |
3 | g.133777048G>C | CA354610817 | TF | c.1873-1G>C (n.1873-1G>C) c.604-1G>C n.2867-1G>C c.1741-1G>C (n.1741-1G>C) c.1492-1G>C (n.1492-1G>C) | |
3 | g.133777048G>T | CA354610819 | TF | c.1873-1G>T (n.1873-1G>T) c.604-1G>T n.2867-1G>T c.1741-1G>T (n.1741-1G>T) c.1492-1G>T (n.1492-1G>T) | COSMIC |
3 | g.133777049C>A | CA354610822 | TF | c.1873C>A (p.His625Asn) c.604C>A n.2867C>A c.1741C>A (p.His581Asn) c.1492C>A (p.His498Asn) | COSMIC |
3 | g.133777049C= | CA1403124685 | TF | c.1873C= (p.His625=) c.604C= n.2867C= c.1741C= (p.His581=) c.1492C= (p.His498=) | |
3 | g.133777049C>G | CA354610823 | TF | c.1873C>G (p.His625Asp) c.604C>G n.2867C>G c.1741C>G (p.His581Asp) c.1492C>G (p.His498Asp) | gnomAD v4 |
3 | g.133777049C>T | CA354610825 | TF | c.1873C>T (p.His625Tyr) c.604C>T n.2867C>T c.1741C>T (p.His581Tyr) c.1492C>T (p.His498Tyr) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.133777050A>C | CA354610827 | TF | c.1874A>C (p.His625Pro) c.605A>C n.2868A>C c.1742A>C (p.His581Pro) c.1493A>C (p.His498Pro) | |
3 | g.133777050A>G | CA354610829 | TF | c.1874A>G (p.His625Arg) c.605A>G n.2868A>G c.1742A>G (p.His581Arg) c.1493A>G (p.His498Arg) | |
3 | g.133777050A>T | CA354610831 | TF | c.1874A>T (p.His625Leu) c.605A>T n.2868A>T c.1742A>T (p.His581Leu) c.1493A>T (p.His498Leu) | |
3 | g.133777051C>A | CA354610833 | TF | c.1875C>A (p.His625Gln) c.606C>A n.2869C>A c.1743C>A (p.His581Gln) c.1494C>A (p.His498Gln) | |
3 | g.133777051C= | CA1403124688 | TF | c.1875C= (p.His625=) c.606C= n.2869C= c.1743C= (p.His581=) c.1494C= (p.His498=) | |
3 | g.133777051C>G | CA354610835 | TF | c.1875C>G (p.His625Gln) c.606C>G n.2869C>G c.1743C>G (p.His581Gln) c.1494C>G (p.His498Gln) | |
3 | g.133777051C>T | CA435815894 | TF | c.1875C>T (p.His625=) c.606C>T n.2869C>T c.1743C>T (p.His581=) c.1494C>T (p.His498=) | dbSNP |
3 | g.133777052C>A | CA354610837 | TF | c.1876C>A (p.Leu626Ile) c.607C>A n.2870C>A c.1744C>A (p.Leu582Ile) c.1495C>A (p.Leu499Ile) | |
3 | g.133777052C>G | CA354610840 | TF | c.1876C>G (p.Leu626Val) c.607C>G n.2870C>G c.1744C>G (p.Leu582Val) c.1495C>G (p.Leu499Val) | |
3 | g.133777052C>T | CA435815895 | TF | c.1876C>T (p.Leu626=) c.607C>T n.2870C>T c.1744C>T (p.Leu582=) c.1495C>T (p.Leu499=) | ClinVar |
3 | g.133777053T>A | CA354610847 | TF | c.1877T>A (p.Leu626Gln) c.608T>A n.2871T>A c.1745T>A (p.Leu582Gln) c.1496T>A (p.Leu499Gln) | |
3 | g.133777053T>C | CA354610845 | TF | c.1877T>C (p.Leu626Pro) c.608T>C n.2871T>C c.1745T>C (p.Leu582Pro) c.1496T>C (p.Leu499Pro) | |
3 | g.133777053T>G | CA354610844 | TF | c.1877T>G (p.Leu626Arg) c.608T>G n.2871T>G c.1745T>G (p.Leu582Arg) c.1496T>G (p.Leu499Arg) | |
3 | g.133777054A= | CA1403124695 | TF | c.1878A= (p.Leu626=) c.609A= n.2872A= c.1746A= (p.Leu582=) c.1497A= (p.Leu499=) | |
3 | g.133777054A>C | CA435815896 | TF | c.1878A>C (p.Leu626=) c.609A>C n.2872A>C c.1746A>C (p.Leu582=) c.1497A>C (p.Leu499=) | |
3 | g.133777054A>G | CA435815897 | TF | c.1878A>G (p.Leu626=) c.609A>G n.2872A>G c.1746A>G (p.Leu582=) c.1497A>G (p.Leu499=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.133777054A>T | CA435815898 | TF | c.1878A>T (p.Leu626=) c.609A>T n.2872A>T c.1746A>T (p.Leu582=) c.1497A>T (p.Leu499=) | |
3 | g.133777055T>A | CA354610852 | TF | c.1879T>A (p.Phe627Ile) c.610T>A n.2873T>A c.1747T>A (p.Phe583Ile) c.1498T>A (p.Phe500Ile) | |
3 | g.133777055T>C | CA354610854 | TF | c.1879T>C (p.Phe627Leu) c.610T>C n.2873T>C c.1747T>C (p.Phe583Leu) c.1498T>C (p.Phe500Leu) | dbSNP |
3 | g.133777055T>G | CA354610856 | TF | c.1879T>G (p.Phe627Val) c.610T>G n.2873T>G c.1747T>G (p.Phe583Val) c.1498T>G (p.Phe500Val) | |
3 | g.133777055T= | CA1403124700 | TF | c.1879T= (p.Phe627=) c.610T= n.2873T= c.1747T= (p.Phe583=) c.1498T= (p.Phe500=) | |
3 | g.133777056T>A | CA354610858 | TF | c.1880T>A (p.Phe627Tyr) c.611T>A n.2874T>A c.1748T>A (p.Phe583Tyr) c.1499T>A (p.Phe500Tyr) | dbSNP |
3 | g.133777056T>C | CA354610860 | TF | c.1880T>C (p.Phe627Ser) c.611T>C n.2874T>C c.1748T>C (p.Phe583Ser) c.1499T>C (p.Phe500Ser) | |
3 | g.133777056T>G | CA354610862 | TF | c.1880T>G (p.Phe627Cys) c.611T>G n.2874T>G c.1748T>G (p.Phe583Cys) c.1499T>G (p.Phe500Cys) | |
3 | g.133777056T= | CA1403124708 | TF | c.1880T= (p.Phe627=) c.611T= n.2874T= c.1748T= (p.Phe583=) c.1499T= (p.Phe500=) | |
3 | g.133777057T>A | CA354610864 | TF | c.1881T>A (p.Phe627Leu) c.612T>A n.2875T>A c.1749T>A (p.Phe583Leu) c.1500T>A (p.Phe500Leu) | |
3 | g.133777057T>C | CA435815899 | TF | c.1881T>C (p.Phe627=) c.612T>C n.2875T>C c.1749T>C (p.Phe583=) c.1500T>C (p.Phe500=) | |
3 | g.133777057T>G | CA354610866 | TF | c.1881T>G (p.Phe627Leu) c.612T>G n.2875T>G c.1749T>G (p.Phe583Leu) c.1500T>G (p.Phe500Leu) | |
3 | g.133777058G>A | CA354610868 | TF | c.1882G>A (p.Gly628Arg) c.613G>A n.2876G>A c.1750G>A (p.Gly584Arg) c.1501G>A (p.Gly501Arg) | gnomAD v4 |
3 | g.133777058G>C | CA354610869 | TF | c.1882G>C (p.Gly628Arg) c.613G>C n.2876G>C c.1750G>C (p.Gly584Arg) c.1501G>C (p.Gly501Arg) | |
3 | g.133777058G>T | CA354610870 | TF | c.1882G>T (p.Gly628Ter) c.613G>T n.2876G>T c.1750G>T (p.Gly584Ter) c.1501G>T (p.Gly501Ter) | |
3 | g.133777059G>A | CA354610871 | TF | c.1883G>A (p.Gly628Glu) c.614G>A n.2877G>A c.1751G>A (p.Gly584Glu) c.1502G>A (p.Gly501Glu) | |
3 | g.133777059G>C | CA354610872 | TF | c.1883G>C (p.Gly628Ala) c.614G>C n.2877G>C c.1751G>C (p.Gly584Ala) c.1502G>C (p.Gly501Ala) | |
3 | g.133777059G= | CA1403124712 | TF | c.1883G= (p.Gly628=) c.614G= n.2877G= c.1751G= (p.Gly584=) c.1502G= (p.Gly501=) | |
3 | g.133777059G>T | CA2625443 | TF | c.1883G>T (p.Gly628Val) c.614G>T n.2877G>T c.1751G>T (p.Gly584Val) c.1502G>T (p.Gly501Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.133777060A>C | CA435815900 | TF | c.1884A>C (p.Gly628=) c.615A>C n.2878A>C c.1752A>C (p.Gly584=) c.1503A>C (p.Gly501=) | |
3 | g.133777060A>G | CA435815901 | TF | c.1884A>G (p.Gly628=) c.615A>G n.2878A>G c.1752A>G (p.Gly584=) c.1503A>G (p.Gly501=) | |
3 | g.133777060A>T | CA435815902 | TF | c.1884A>T (p.Gly628=) c.615A>T n.2878A>T c.1752A>T (p.Gly584=) c.1503A>T (p.Gly501=) | |
3 | g.133777061A>C | CA354610878 | TF | c.1885A>C (p.Ser629Arg) c.616A>C n.2879A>C c.1753A>C (p.Ser585Arg) c.1504A>C (p.Ser502Arg) | |
3 | g.133777061A>G | CA354610880 | TF | c.1885A>G (p.Ser629Gly) c.616A>G n.2879A>G c.1753A>G (p.Ser585Gly) c.1504A>G (p.Ser502Gly) | |
3 | g.133777061A>T | CA354610876 | TF | c.1885A>T (p.Ser629Cys) c.616A>T n.2879A>T c.1753A>T (p.Ser585Cys) c.1504A>T (p.Ser502Cys) | |
3 | g.133777061_133777062delinsAG | CA1403124718 | TF | c.1885_1886delinsAG (p.Ser629=) c.616_617delinsAG n.2879_2880delinsAG c.1753_1754delinsAG (p.Ser585=) c.1504_1505delinsAG (p.Ser502=) | |
3 | g.133777062del | CA2625444 | TF | c.1886del (p.Ser629ThrfsTer3) c.617del n.2880del c.1754del (p.Ser585ThrfsTer3) c.1505del (p.Ser502ThrfsTer3) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.133777062G>A | CA354610882 | TF | c.1886G>A (p.Ser629Asn) c.617G>A n.2880G>A c.1754G>A (p.Ser585Asn) c.1505G>A (p.Ser502Asn) | gnomAD v4 |
3 | g.133777062G>C | CA354610884 | TF | c.1886G>C (p.Ser629Thr) c.617G>C n.2880G>C c.1754G>C (p.Ser585Thr) c.1505G>C (p.Ser502Thr) | |
3 | g.133777062G>T | CA354610885 | TF | c.1886G>T (p.Ser629Ile) c.617G>T n.2880G>T c.1754G>T (p.Ser585Ile) c.1505G>T (p.Ser502Ile) | ClinVar |
3 | g.133777063C>A | CA2625445 | TF | c.1887C>A (p.Ser629Arg) c.618C>A n.2881C>A c.1755C>A (p.Ser585Arg) c.1506C>A (p.Ser502Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.133777063C= | CA1403124722 | TF | c.1887C= (p.Ser629=) c.618C= n.2881C= c.1755C= (p.Ser585=) c.1506C= (p.Ser502=) | |
3 | g.133777063C>G | CA354610888 | TF | c.1887C>G (p.Ser629Arg) c.618C>G n.2881C>G c.1755C>G (p.Ser585Arg) c.1506C>G (p.Ser502Arg) | |
3 | g.133777063C>T | CA435815903 | TF | c.1887C>T (p.Ser629=) c.618C>T n.2881C>T c.1755C>T (p.Ser585=) c.1506C>T (p.Ser502=) | |
3 | g.133777064A>C | CA354610890 | TF | c.1888A>C (p.Asn630His) c.619A>C n.2882A>C c.1756A>C (p.Asn586His) c.1507A>C (p.Asn503His) | |
3 | g.133777064A>G | CA354610891 | TF | c.1888A>G (p.Asn630Asp) c.619A>G n.2882A>G c.1756A>G (p.Asn586Asp) c.1507A>G (p.Asn503Asp) | |
3 | g.133777064A>T | CA354610892 | TF | c.1888A>T (p.Asn630Tyr) c.619A>T n.2882A>T c.1756A>T (p.Asn586Tyr) c.1507A>T (p.Asn503Tyr) | |
3 | g.133777065A>C | CA354610894 | TF | c.1889A>C (p.Asn630Thr) c.620A>C n.2883A>C c.1757A>C (p.Asn586Thr) c.1508A>C (p.Asn503Thr) | |
3 | g.133777065A>G | CA354610896 | TF | c.1889A>G (p.Asn630Ser) c.620A>G n.2883A>G c.1757A>G (p.Asn586Ser) c.1508A>G (p.Asn503Ser) | |
3 | g.133777065A>T | CA354610897 | TF | c.1889A>T (p.Asn630Ile) c.620A>T n.2883A>T c.1757A>T (p.Asn586Ile) c.1508A>T (p.Asn503Ile) | |
3 | g.133777066C>A | CA2625447 | TF | c.1890C>A (p.Asn630Lys) c.621C>A n.2884C>A c.1758C>A (p.Asn586Lys) c.1509C>A (p.Asn503Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.133777066C= | CA1403124728 | TF | c.1890C= (p.Asn630=) c.621C= n.2884C= c.1758C= (p.Asn586=) c.1509C= (p.Asn503=) | |
3 | g.133777066C>G | CA354610901 | TF | c.1890C>G (p.Asn630Lys) c.621C>G n.2884C>G c.1758C>G (p.Asn586Lys) c.1509C>G (p.Asn503Lys) | |
3 | g.133777066C>T | CA2625446 | TF | c.1890C>T (p.Asn630=) c.621C>T n.2884C>T c.1758C>T (p.Asn586=) c.1509C>T (p.Asn503=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.133777067G>A | CA2625448 | TF | c.1891G>A (p.Val631Ile) c.622G>A n.2885G>A c.1759G>A (p.Val587Ile) c.1510G>A (p.Val504Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.133777067G>C | CA354610909 | TF | c.1891G>C (p.Val631Leu) c.622G>C n.2885G>C c.1759G>C (p.Val587Leu) c.1510G>C (p.Val504Leu) | |
3 | g.133777067G= | CA1403124733 | TF | c.1891G= (p.Val631=) c.622G= n.2885G= c.1759G= (p.Val587=) c.1510G= (p.Val504=) | |
3 | g.133777067G>T | CA354610912 | TF | c.1891G>T (p.Val631Leu) c.622G>T n.2885G>T c.1759G>T (p.Val587Leu) c.1510G>T (p.Val504Leu) | dbSNP gnomAD v2 |
3 | g.133777068T>A | CA354610915 | TF | c.1892T>A (p.Val631Glu) c.623T>A n.2886T>A c.1760T>A (p.Val587Glu) c.1511T>A (p.Val504Glu) | |
3 | g.133777068T>C | CA354610917 | TF | c.1892T>C (p.Val631Ala) c.623T>C n.2886T>C c.1760T>C (p.Val587Ala) c.1511T>C (p.Val504Ala) | gnomAD v4 |
3 | g.133777068T>G | CA354610919 | TF | c.1892T>G (p.Val631Gly) c.623T>G n.2886T>G c.1760T>G (p.Val587Gly) c.1511T>G (p.Val504Gly) | |
3 | g.133777068dup | CA2667772267 | TF | c.1892dup (p.Thr632AsnfsTer2) c.623dup n.2886dup c.1760dup (p.Thr588AsnfsTer2) c.1511dup (p.Thr505AsnfsTer2) | gnomAD v4 |
3 | g.133777069A>C | CA435815904 | TF | c.1893A>C (p.Val631=) c.624A>C n.2887A>C c.1761A>C (p.Val587=) c.1512A>C (p.Val504=) | gnomAD v4 |
3 | g.133777069A>G | CA435815905 | TF | c.1893A>G (p.Val631=) c.624A>G n.2887A>G c.1761A>G (p.Val587=) c.1512A>G (p.Val504=) | |
3 | g.133777069A>T | CA435815906 | TF | c.1893A>T (p.Val631=) c.624A>T n.2887A>T c.1761A>T (p.Val587=) c.1512A>T (p.Val504=) | |
3 | g.133777070A= | CA1403124737 | TF | c.1894A= (p.Thr632=) c.625A= n.2888A= c.1762A= (p.Thr588=) c.1513A= (p.Thr505=) | |
3 | g.133777070A>C | CA354610921 | TF | c.1894A>C (p.Thr632Pro) c.625A>C n.2888A>C c.1762A>C (p.Thr588Pro) c.1513A>C (p.Thr505Pro) | |
3 | g.133777070A>G | CA2625449 | TF | c.1894A>G (p.Thr632Ala) c.625A>G n.2888A>G c.1762A>G (p.Thr588Ala) c.1513A>G (p.Thr505Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.133777070A>T | CA354610924 | TF | c.1894A>T (p.Thr632Ser) c.625A>T n.2888A>T c.1762A>T (p.Thr588Ser) c.1513A>T (p.Thr505Ser) | |
3 | g.133777071C>A | CA354610927 | TF | c.1895C>A (p.Thr632Asn) c.626C>A n.2889C>A c.1763C>A (p.Thr588Asn) c.1514C>A (p.Thr505Asn) | |
3 | g.133777071C>G | CA354610929 | TF | c.1895C>G (p.Thr632Ser) c.626C>G n.2889C>G c.1763C>G (p.Thr588Ser) c.1514C>G (p.Thr505Ser) | |
3 | g.133777071C>T | CA354610936 | TF | c.1895C>T (p.Thr632Ile) c.626C>T n.2889C>T c.1763C>T (p.Thr588Ile) c.1514C>T (p.Thr505Ile) | |
3 | g.133777072T>A | CA435815907 | TF | c.1896T>A (p.Thr632=) c.627T>A n.2890T>A c.1764T>A (p.Thr588=) c.1515T>A (p.Thr505=) | |
3 | g.133777072T>C | CA435815909 | TF | c.1896T>C (p.Thr632=) c.627T>C n.2890T>C c.1764T>C (p.Thr588=) c.1515T>C (p.Thr505=) | |
3 | g.133777072T>G | CA435815908 | TF | c.1896T>G (p.Thr632=) c.627T>G n.2890T>G c.1764T>G (p.Thr588=) c.1515T>G (p.Thr505=) | |
3 | g.133777073G>A | CA354610945 | TF | c.1897G>A (p.Asp633Asn) c.628G>A n.2891G>A c.1765G>A (p.Asp589Asn) c.1516G>A (p.Asp506Asn) | |
3 | g.133777073G>C | CA354610943 | TF | c.1897G>C (p.Asp633His) c.628G>C n.2891G>C c.1765G>C (p.Asp589His) c.1516G>C (p.Asp506His) | |
3 | g.133777073G= | CA1403124740 | TF | c.1897G= (p.Asp633=) c.628G= n.2891G= c.1765G= (p.Asp589=) c.1516G= (p.Asp506=) | |
3 | g.133777073G>T | CA354610940 | TF | c.1897G>T (p.Asp633Tyr) c.628G>T n.2891G>T c.1765G>T (p.Asp589Tyr) c.1516G>T (p.Asp506Tyr) | gnomAD v4 COSMIC |
3 | g.133777074A>C | CA354610953 | TF | c.1898A>C (p.Asp633Ala) c.629A>C n.2892A>C c.1766A>C (p.Asp589Ala) c.1517A>C (p.Asp506Ala) | |
3 | g.133777074A>G | CA354610955 | TF | c.1898A>G (p.Asp633Gly) c.629A>G n.2892A>G c.1766A>G (p.Asp589Gly) c.1517A>G (p.Asp506Gly) | |
3 | g.133777074A>T | CA354610950 | TF | c.1898A>T (p.Asp633Val) c.629A>T n.2892A>T c.1766A>T (p.Asp589Val) c.1517A>T (p.Asp506Val) | |
3 | g.133777074dup | CA2625450 | TF | c.1898dup (p.Asp633GlufsTer21) c.629dup n.2892dup c.1766dup (p.Asp589GlufsTer21) c.1517dup (p.Asp506GlufsTer21) | dbSNP ExAC |
3 | g.133777075C>A | CA354610960 | TF | c.1899C>A (p.Asp633Glu) c.630C>A n.2893C>A c.1767C>A (p.Asp589Glu) c.1518C>A (p.Asp506Glu) | |
3 | g.133777075C>G | CA354610958 | TF | c.1899C>G (p.Asp633Glu) c.630C>G n.2893C>G c.1767C>G (p.Asp589Glu) c.1518C>G (p.Asp506Glu) | |
3 | g.133777075C>T | CA435815910 | TF | c.1899C>T (p.Asp633=) c.630C>T n.2893C>T c.1767C>T (p.Asp589=) c.1518C>T (p.Asp506=) | |
3 | g.133777076T>A | CA354610963 | TF | c.1900T>A (p.Cys634Ser) c.631T>A n.2894T>A c.1768T>A (p.Cys590Ser) c.1519T>A (p.Cys507Ser) | |
3 | g.133777076T>C | CA354610965 | TF | c.1900T>C (p.Cys634Arg) c.631T>C n.2894T>C c.1768T>C (p.Cys590Arg) c.1519T>C (p.Cys507Arg) | |
3 | g.133777076T>G | CA354610967 | TF | c.1900T>G (p.Cys634Gly) c.631T>G n.2894T>G c.1768T>G (p.Cys590Gly) c.1519T>G (p.Cys507Gly) | |
3 | g.133777077G>A | CA354610970 | TF | c.1901G>A (p.Cys634Tyr) c.632G>A n.2895G>A c.1769G>A (p.Cys590Tyr) c.1520G>A (p.Cys507Tyr) | |
3 | g.133777077G>C | CA354610972 | TF | c.1901G>C (p.Cys634Ser) c.632G>C n.2895G>C c.1769G>C (p.Cys590Ser) c.1520G>C (p.Cys507Ser) | gnomAD v4 |
3 | g.133777077G>T | CA354610974 | TF | c.1901G>T (p.Cys634Phe) c.632G>T n.2895G>T c.1769G>T (p.Cys590Phe) c.1520G>T (p.Cys507Phe) | |
3 | g.133777078C>A | CA354610976 | TF | c.1902C>A (p.Cys634Ter) c.633C>A n.2896C>A c.1770C>A (p.Cys590Ter) c.1521C>A (p.Cys507Ter) | |
3 | g.133777078C>G | CA354610978 | TF | c.1902C>G (p.Cys634Trp) c.633C>G n.2896C>G c.1770C>G (p.Cys590Trp) c.1521C>G (p.Cys507Trp) | |
3 | g.133777078C>T | CA435815911 | TF | c.1902C>T (p.Cys634=) c.633C>T n.2896C>T c.1770C>T (p.Cys590=) c.1521C>T (p.Cys507=) | gnomAD v4 |
3 | g.133777079T>A | CA354610980 | TF | c.1903T>A (p.Ser635Thr) c.634T>A n.2897T>A c.1771T>A (p.Ser591Thr) c.1522T>A (p.Ser508Thr) | |
3 | g.133777079T>C | CA354610983 | TF | c.1903T>C (p.Ser635Pro) c.634T>C n.2897T>C c.1771T>C (p.Ser591Pro) c.1522T>C (p.Ser508Pro) | |
3 | g.133777079T>G | CA354610985 | TF | c.1903T>G (p.Ser635Ala) c.634T>G n.2897T>G c.1771T>G (p.Ser591Ala) c.1522T>G (p.Ser508Ala) | |
3 | g.133777080C>A | CA354610989 | TF | c.1904C>A (p.Ser635Ter) c.635C>A n.2898C>A c.1772C>A (p.Ser591Ter) c.1523C>A (p.Ser508Ter) | |
3 | g.133777080C= | CA1403124750 | TF | c.1904C= (p.Ser635=) c.635C= n.2898C= c.1772C= (p.Ser591=) c.1523C= (p.Ser508=) | |
3 | g.133777080C>G | CA354610987 | TF | c.1904C>G (p.Ser635Trp) c.635C>G n.2898C>G c.1772C>G (p.Ser591Trp) c.1523C>G (p.Ser508Trp) | |
3 | g.133777080C>T | CA2625451 | TF | c.1904C>T (p.Ser635Leu) c.635C>T n.2898C>T c.1772C>T (p.Ser591Leu) c.1523C>T (p.Ser508Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.133777080_133777081delinsCG | CA1403124755 | TF | c.1904_1905delinsCG (p.Ser635=) c.635_636delinsCG n.2898_2899delinsCG c.1772_1773delinsCG (p.Ser591=) c.1523_1524delinsCG (p.Ser508=) | |
3 | g.133777081G>A | CA2625452 | TF | c.1905G>A (p.Ser635=) c.636G>A n.2899G>A c.1773G>A (p.Ser591=) c.1524G>A (p.Ser508=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.133777081G>C | CA435815912 | TF | c.1905G>C (p.Ser635=) c.636G>C n.2899G>C c.1773G>C (p.Ser591=) c.1524G>C (p.Ser508=) | |
3 | g.133777081G= | CA1403124766 | TF | c.1905G= (p.Ser635=) c.636G= n.2899G= c.1773G= (p.Ser591=) c.1524G= (p.Ser508=) | |
3 | g.133777081G>T | CA435815913 | TF | c.1905G>T (p.Ser635=) c.636G>T n.2899G>T c.1773G>T (p.Ser591=) c.1524G>T (p.Ser508=) | ClinVar |
3 | g.133777083del | CA1403124763 | TF | c.1907del (p.Gly636AlafsTer?) c.638del n.2901del c.1775del (p.Gly592AlafsTer?) c.1526del (p.Gly509AlafsTer?) | dbSNP |
3 | g.133777082G>A | CA354610993 | TF | c.1906G>A (p.Gly636Ser) c.637G>A n.2900G>A c.1774G>A (p.Gly592Ser) c.1525G>A (p.Gly509Ser) | gnomAD v4 |
3 | g.133777082G>C | CA354610995 | TF | c.1906G>C (p.Gly636Arg) c.637G>C n.2900G>C c.1774G>C (p.Gly592Arg) c.1525G>C (p.Gly509Arg) | |
3 | g.133777082G>T | CA354610997 | TF | c.1906G>T (p.Gly636Cys) c.637G>T n.2900G>T c.1774G>T (p.Gly592Cys) c.1525G>T (p.Gly509Cys) | |
3 | g.133777083G>A | CA354610999 | TF | c.1907G>A (p.Gly636Asp) c.638G>A n.2901G>A c.1775G>A (p.Gly592Asp) c.1526G>A (p.Gly509Asp) | COSMIC |
3 | g.133777083G>C | CA354611001 | TF | c.1907G>C (p.Gly636Ala) c.638G>C n.2901G>C c.1775G>C (p.Gly592Ala) c.1526G>C (p.Gly509Ala) | |
3 | g.133777083G>T | CA354611003 | TF | c.1907G>T (p.Gly636Val) c.638G>T n.2901G>T c.1775G>T (p.Gly592Val) c.1526G>T (p.Gly509Val) | |
3 | g.133777084C>A | CA83694273 | TF | c.1908C>A (p.Gly636=) c.639C>A n.2902C>A c.1776C>A (p.Gly592=) c.1527C>A (p.Gly509=) | ClinVar dbSNP |
3 | g.133777084C= | CA1403124771 | TF | c.1908C= (p.Gly636=) c.639C= n.2902C= c.1776C= (p.Gly592=) c.1527C= (p.Gly509=) | |
3 | g.133777084C>G | CA435815915 | TF | c.1908C>G (p.Gly636=) c.639C>G n.2902C>G c.1776C>G (p.Gly592=) c.1527C>G (p.Gly509=) | |
3 | g.133777084C>T | CA435815914 | TF | c.1908C>T (p.Gly636=) c.639C>T n.2902C>T c.1776C>T (p.Gly592=) c.1527C>T (p.Gly509=) | dbSNP |
3 | g.133777085A>C | CA354611006 | TF | c.1909A>C (p.Asn637His) c.640A>C n.2903A>C c.1777A>C (p.Asn593His) c.1528A>C (p.Asn510His) | |
3 | g.133777085A>G | CA354611009 | TF | c.1909A>G (p.Asn637Asp) c.640A>G n.2903A>G c.1777A>G (p.Asn593Asp) c.1528A>G (p.Asn510Asp) | |
3 | g.133777085A>T | CA354611011 | TF | c.1909A>T (p.Asn637Tyr) c.640A>T n.2903A>T c.1777A>T (p.Asn593Tyr) c.1528A>T (p.Asn510Tyr) | |
3 | g.133777086A>C | CA354611021 | TF | c.1910A>C (p.Asn637Thr) c.641A>C n.2904A>C c.1778A>C (p.Asn593Thr) c.1529A>C (p.Asn510Thr) | |
3 | g.133777086A>G | CA354611018 | TF | c.1910A>G (p.Asn637Ser) c.641A>G n.2904A>G c.1778A>G (p.Asn593Ser) c.1529A>G (p.Asn510Ser) | |
3 | g.133777086A>T | CA354611017 | TF | c.1910A>T (p.Asn637Ile) c.641A>T n.2904A>T c.1778A>T (p.Asn593Ile) c.1529A>T (p.Asn510Ile) | |
3 | g.133777087C>A | CA2625454 | TF | c.1911C>A (p.Asn637Lys) c.642C>A n.2905C>A c.1779C>A (p.Asn593Lys) c.1530C>A (p.Asn510Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.133777087C= | CA1403124779 | TF | c.1911C= (p.Asn637=) c.642C= n.2905C= c.1779C= (p.Asn593=) c.1530C= (p.Asn510=) | |
3 | g.133777087C>G | CA354611025 | TF | c.1911C>G (p.Asn637Lys) c.642C>G n.2905C>G c.1779C>G (p.Asn593Lys) c.1530C>G (p.Asn510Lys) | |
3 | g.133777087C>T | CA2625453 | TF | c.1911C>T (p.Asn637=) c.642C>T n.2905C>T c.1779C>T (p.Asn593=) c.1530C>T (p.Asn510=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.133777088T>A | CA2625455 | TF | c.1912T>A (p.Phe638Ile) c.643T>A n.2906T>A c.1780T>A (p.Phe594Ile) c.1531T>A (p.Phe511Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.133777088T>C | CA354611029 | TF | c.1912T>C (p.Phe638Leu) c.643T>C n.2906T>C c.1780T>C (p.Phe594Leu) c.1531T>C (p.Phe511Leu) | |
3 | g.133777088T>G | CA83694298 | TF | c.1912T>G (p.Phe638Val) c.643T>G n.2906T>G c.1780T>G (p.Phe594Val) c.1531T>G (p.Phe511Val) | dbSNP |
3 | g.133777088T= | CA1403124784 | TF | c.1912T= (p.Phe638=) c.643T= n.2906T= c.1780T= (p.Phe594=) c.1531T= (p.Phe511=) | |
3 | g.133777089T>A | CA354611033 | TF | c.1913T>A (p.Phe638Tyr) c.644T>A n.2907T>A c.1781T>A (p.Phe594Tyr) c.1532T>A (p.Phe511Tyr) | |
3 | g.133777089T>C | CA354611035 | TF | c.1913T>C (p.Phe638Ser) c.644T>C n.2907T>C c.1781T>C (p.Phe594Ser) c.1532T>C (p.Phe511Ser) | |
3 | g.133777089T>G | CA354611037 | TF | c.1913T>G (p.Phe638Cys) c.644T>G n.2907T>G c.1781T>G (p.Phe594Cys) c.1532T>G (p.Phe511Cys) | |
3 | g.133777090T>A | CA354611040 | TF | c.1914T>A (p.Phe638Leu) c.645T>A n.2908T>A c.1782T>A (p.Phe594Leu) c.1533T>A (p.Phe511Leu) | |
3 | g.133777090T>C | CA2625456 | TF | c.1914T>C (p.Phe638=) c.645T>C n.2908T>C c.1782T>C (p.Phe594=) c.1533T>C (p.Phe511=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.133777090T>G | CA354611042 | TF | c.1914T>G (p.Phe638Leu) c.645T>G n.2908T>G c.1782T>G (p.Phe594Leu) c.1533T>G (p.Phe511Leu) | gnomAD v4 |
3 | g.133777090T= | CA1403124786 | TF | c.1914T= (p.Phe638=) c.645T= n.2908T= c.1782T= (p.Phe594=) c.1533T= (p.Phe511=) | |
3 | g.133777091T>A | CA354611048 | TF | c.1915T>A (p.Cys639Ser) c.646T>A n.2909T>A c.1783T>A (p.Cys595Ser) c.1534T>A (p.Cys512Ser) | |
3 | g.133777091T>C | CA354611044 | TF | c.1915T>C (p.Cys639Arg) c.646T>C n.2909T>C c.1783T>C (p.Cys595Arg) c.1534T>C (p.Cys512Arg) | ClinVar dbSNP gnomAD v4 |
3 | g.133777091T>G | CA354611046 | TF | c.1915T>G (p.Cys639Gly) c.646T>G n.2909T>G c.1783T>G (p.Cys595Gly) c.1534T>G (p.Cys512Gly) | |
3 | g.133777091T= | CA1403124790 | TF | c.1915T= (p.Cys639=) c.646T= n.2909T= c.1783T= (p.Cys595=) c.1534T= (p.Cys512=) | |
3 | g.133777092G>A | CA354611050 | TF | c.1916G>A (p.Cys639Tyr) c.647G>A n.2910G>A c.1784G>A (p.Cys595Tyr) c.1535G>A (p.Cys512Tyr) | |
3 | g.133777092G>C | CA354611052 | TF | c.1916G>C (p.Cys639Ser) c.647G>C n.2910G>C c.1784G>C (p.Cys595Ser) c.1535G>C (p.Cys512Ser) | |
3 | g.133777092G>T | CA354611054 | TF | c.1916G>T (p.Cys639Phe) c.647G>T n.2910G>T c.1784G>T (p.Cys595Phe) c.1535G>T (p.Cys512Phe) | |
3 | g.133777093T>A | CA354611057 | TF | c.1917T>A (p.Cys639Ter) c.648T>A n.2911T>A c.1785T>A (p.Cys595Ter) c.1536T>A (p.Cys512Ter) | |
3 | g.133777093T>C | CA435815916 | TF | c.1917T>C (p.Cys639=) c.648T>C n.2911T>C c.1785T>C (p.Cys595=) c.1536T>C (p.Cys512=) | |
3 | g.133777093T>G | CA354611059 | TF | c.1917T>G (p.Cys639Trp) c.648T>G n.2911T>G c.1785T>G (p.Cys595Trp) c.1536T>G (p.Cys512Trp) | |
3 | g.133777094T>A | CA354611061 | TF | c.1918T>A (p.Leu640Met) c.649T>A n.2912T>A c.1786T>A (p.Leu596Met) c.1537T>A (p.Leu513Met) | |
3 | g.133777094T>C | CA435815917 | TF | c.1918T>C (p.Leu640=) c.649T>C n.2912T>C c.1786T>C (p.Leu596=) c.1537T>C (p.Leu513=) | |
3 | g.133777094T>G | CA354611063 | TF | c.1918T>G (p.Leu640Val) c.649T>G n.2912T>G c.1786T>G (p.Leu596Val) c.1537T>G (p.Leu513Val) | |
3 | g.133777095T>A | CA354611066 | TF | c.1919T>A (p.Leu640Ter) c.650T>A n.2913T>A c.1787T>A (p.Leu596Ter) c.1538T>A (p.Leu513Ter) | |
3 | g.133777095T>C | CA354611068 | TF | c.1919T>C (p.Leu640Ser) c.650T>C n.2913T>C c.1787T>C (p.Leu596Ser) c.1538T>C (p.Leu513Ser) | |
3 | g.133777095T>G | CA354611071 | TF | c.1919T>G (p.Leu640Trp) c.650T>G n.2913T>G c.1787T>G (p.Leu596Trp) c.1538T>G (p.Leu513Trp) | |
3 | g.133777096G>A | CA435815918 | TF | c.1920G>A (p.Leu640=) c.651G>A n.2914G>A c.1788G>A (p.Leu596=) c.1539G>A (p.Leu513=) | |
3 | g.133777096G>C | CA354611073 | TF | c.1920G>C (p.Leu640Phe) c.651G>C n.2914G>C c.1788G>C (p.Leu596Phe) c.1539G>C (p.Leu513Phe) | |
3 | g.133777096G>T | CA354611075 | TF | c.1920G>T (p.Leu640Phe) c.651G>T n.2914G>T c.1788G>T (p.Leu596Phe) c.1539G>T (p.Leu513Phe) | |
3 | g.133777097T>A | CA354611079 | TF | c.1921T>A (p.Phe641Ile) c.652T>A n.2915T>A c.1789T>A (p.Phe597Ile) c.1540T>A (p.Phe514Ile) | |
3 | g.133777097T>C | CA354611081 | TF | c.1921T>C (p.Phe641Leu) c.652T>C n.2915T>C c.1789T>C (p.Phe597Leu) c.1540T>C (p.Phe514Leu) | |
3 | g.133777097T>G | CA354611077 | TF | c.1921T>G (p.Phe641Val) c.652T>G n.2915T>G c.1789T>G (p.Phe597Val) c.1540T>G (p.Phe514Val) | |
3 | g.133777098T>A | CA354611082 | TF | c.1922T>A (p.Phe641Tyr) c.653T>A n.2916T>A c.1790T>A (p.Phe597Tyr) c.1541T>A (p.Phe514Tyr) | |
3 | g.133777098T>C | CA354611084 | TF | c.1922T>C (p.Phe641Ser) c.653T>C n.2916T>C c.1790T>C (p.Phe597Ser) c.1541T>C (p.Phe514Ser) | |
3 | g.133777098T>G | CA354611086 | TF | c.1922T>G (p.Phe641Cys) c.653T>G n.2916T>G c.1790T>G (p.Phe597Cys) c.1541T>G (p.Phe514Cys) | |
3 | g.133777099C>A | CA354611088 | TF | c.1923C>A (p.Phe641Leu) c.654C>A n.2917C>A c.1791C>A (p.Phe597Leu) c.1542C>A (p.Phe514Leu) | |
3 | g.133777099C= | CA1403124794 | TF | c.1923C= (p.Phe641=) c.654C= n.2917C= c.1791C= (p.Phe597=) c.1542C= (p.Phe514=) | |
3 | g.133777099C>G | CA2625457 | TF | c.1923C>G (p.Phe641Leu) c.654C>G n.2917C>G c.1791C>G (p.Phe597Leu) c.1542C>G (p.Phe514Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.133777099C>T | CA435815919 | TF | c.1923C>T (p.Phe641=) c.654C>T n.2917C>T c.1791C>T (p.Phe597=) c.1542C>T (p.Phe514=) | |
3 | g.133777100C>A | CA435815920 | TF | c.1924C>A (p.Arg642=) c.655C>A n.2918C>A c.1792C>A (p.Arg598=) c.1543C>A (p.Arg515=) | |
3 | g.133777100C= | CA1403124797 | TF | c.1924C= (p.Arg642=) c.655C= n.2918C= c.1792C= (p.Arg598=) c.1543C= (p.Arg515=) | |
3 | g.133777100C>G | CA354611091 | TF | c.1924C>G (p.Arg642Gly) c.655C>G n.2918C>G c.1792C>G (p.Arg598Gly) c.1543C>G (p.Arg515Gly) | |
3 | g.133777100C>T | CA2625458 | TF | c.1924C>T (p.Arg642Trp) c.655C>T n.2918C>T c.1792C>T (p.Arg598Trp) c.1543C>T (p.Arg515Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.133777101G>A | CA2625459 | TF | c.1925G>A (p.Arg642Gln) c.656G>A n.2919G>A c.1793G>A (p.Arg598Gln) c.1544G>A (p.Arg515Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.133777101G>C | CA354611097 | TF | c.1925G>C (p.Arg642Pro) c.656G>C n.2919G>C c.1793G>C (p.Arg598Pro) c.1544G>C (p.Arg515Pro) | dbSNP |
3 | g.133777101G= | CA1403124799 | TF | c.1925G= (p.Arg642=) c.656G= n.2919G= c.1793G= (p.Arg598=) c.1544G= (p.Arg515=) | |
3 | g.133777101G>T | CA354611095 | TF | c.1925G>T (p.Arg642Leu) c.656G>T n.2919G>T c.1793G>T (p.Arg598Leu) c.1544G>T (p.Arg515Leu) | dbSNP gnomAD v4 |
3 | g.133777102G>A | CA435815921 | TF | c.1926G>A (p.Arg642=) c.657G>A n.2920G>A c.1794G>A (p.Arg598=) c.1545G>A (p.Arg515=) | |
3 | g.133777102G>C | CA83694343 | TF | c.1926G>C (p.Arg642=) c.657G>C n.2920G>C c.1794G>C (p.Arg598=) c.1545G>C (p.Arg515=) | dbSNP |
3 | g.133777102G= | CA1403124801 | TF | c.1926G= (p.Arg642=) c.657G= n.2920G= c.1794G= (p.Arg598=) c.1545G= (p.Arg515=) | |
3 | g.133777102G>T | CA2625460 | TF | c.1926G>T (p.Arg642=) c.657G>T n.2920G>T c.1794G>T (p.Arg598=) c.1545G>T (p.Arg515=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.133777103T>A | CA354611108 | TF | c.1927T>A (p.Ser643Thr) c.658T>A n.2921T>A c.1795T>A (p.Ser599Thr) c.1546T>A (p.Ser516Thr) | |
3 | g.133777103T>C | CA354611109 | TF | c.1927T>C (p.Ser643Pro) c.658T>C n.2921T>C c.1795T>C (p.Ser599Pro) c.1546T>C (p.Ser516Pro) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.133777103T>G | CA354611110 | TF | c.1927T>G (p.Ser643Ala) c.658T>G n.2921T>G c.1795T>G (p.Ser599Ala) c.1546T>G (p.Ser516Ala) | |
3 | g.133777103T= | CA1403124807 | TF | c.1927T= (p.Ser643=) c.658T= n.2921T= c.1795T= (p.Ser599=) c.1546T= (p.Ser516=) | |
3 | g.133777104C>A | CA354611111 | TF | c.1928C>A (p.Ser643Ter) c.659C>A n.2922C>A c.1796C>A (p.Ser599Ter) c.1547C>A (p.Ser516Ter) | gnomAD v4 |
3 | g.133777104C= | CA1403124813 | TF | c.1928C= (p.Ser643=) c.659C= n.2922C= c.1796C= (p.Ser599=) c.1547C= (p.Ser516=) | |
3 | g.133777104C>G | CA354611113 | TF | c.1928C>G (p.Ser643Trp) c.659C>G n.2922C>G c.1796C>G (p.Ser599Trp) c.1547C>G (p.Ser516Trp) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.133777104C>T | CA354611112 | TF | c.1928C>T (p.Ser643Leu) c.659C>T n.2922C>T c.1796C>T (p.Ser599Leu) c.1547C>T (p.Ser516Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.133777105G>A | CA2625461 | TF | c.1929G>A (p.Ser643=) c.660G>A n.2923G>A c.1797G>A (p.Ser599=) c.1548G>A (p.Ser516=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.133777105G>C | CA435815922 | TF | c.1929G>C (p.Ser643=) c.660G>C n.2923G>C c.1797G>C (p.Ser599=) c.1548G>C (p.Ser516=) | |
3 | g.133777105G= | CA1403124825 | TF | c.1929G= (p.Ser643=) c.660G= n.2923G= c.1797G= (p.Ser599=) c.1548G= (p.Ser516=) | |
3 | g.133777105G>T | CA435815923 | TF | c.1929G>T (p.Ser643=) c.660G>T n.2923G>T c.1797G>T (p.Ser599=) c.1548G>T (p.Ser516=) | |
3 | g.133777106G>A | CA354611116 | TF | c.1930G>A (p.Glu644Lys) c.661G>A n.2924G>A c.1798G>A (p.Glu600Lys) c.1549G>A (p.Glu517Lys) | |
3 | g.133777106G>C | CA354611118 | TF | c.1930G>C (p.Glu644Gln) c.661G>C n.2924G>C c.1798G>C (p.Glu600Gln) c.1549G>C (p.Glu517Gln) | |
3 | g.133777106G>T | CA354611120 | TF | c.1930G>T (p.Glu644Ter) c.661G>T n.2924G>T c.1798G>T (p.Glu600Ter) c.1549G>T (p.Glu517Ter) | |
3 | g.133777107A>C | CA354611122 | TF | c.1931A>C (p.Glu644Ala) c.662A>C n.2925A>C c.1799A>C (p.Glu600Ala) c.1550A>C (p.Glu517Ala) | |
3 | g.133777107A>G | CA354611124 | TF | c.1931A>G (p.Glu644Gly) c.662A>G n.2925A>G c.1799A>G (p.Glu600Gly) c.1550A>G (p.Glu517Gly) | |
3 | g.133777107A>T | CA354611126 | TF | c.1931A>T (p.Glu644Val) c.662A>T n.2925A>T c.1799A>T (p.Glu600Val) c.1550A>T (p.Glu517Val) | |
3 | g.133777108A>C | CA354611128 | TF | c.1932A>C (p.Glu644Asp) c.663A>C n.2926A>C c.1800A>C (p.Glu600Asp) c.1551A>C (p.Glu517Asp) | |
3 | g.133777108A>G | CA435815924 | TF | c.1932A>G (p.Glu644=) c.663A>G n.2926A>G c.1800A>G (p.Glu600=) c.1551A>G (p.Glu517=) | |
3 | g.133777108A>T | CA354611130 | TF | c.1932A>T (p.Glu644Asp) c.663A>T n.2926A>T c.1800A>T (p.Glu600Asp) c.1551A>T (p.Glu517Asp) | |
3 | g.133777109A= | CA1403124835 | TF | c.1933A= (p.Thr645=) c.664A= n.2927A= c.1801A= (p.Thr601=) c.1552A= (p.Thr518=) | |
3 | g.133777109A>C | CA83694359 | TF | c.1933A>C (p.Thr645Pro) c.664A>C n.2927A>C c.1801A>C (p.Thr601Pro) c.1552A>C (p.Thr518Pro) | dbSNP |
3 | g.133777109A>G | CA354611134 | TF | c.1933A>G (p.Thr645Ala) c.664A>G n.2927A>G c.1801A>G (p.Thr601Ala) c.1552A>G (p.Thr518Ala) | dbSNP |
3 | g.133777109A>T | CA354611136 | TF | c.1933A>T (p.Thr645Ser) c.664A>T n.2927A>T c.1801A>T (p.Thr601Ser) c.1552A>T (p.Thr518Ser) | dbSNP |
3 | g.133777109_133777110del | CA2667772268 | TF | c.1933_1934del (p.Thr645GlnfsTer8) c.664_665del n.2927_2928del c.1801_1802del (p.Thr601GlnfsTer8) c.1552_1553del (p.Thr518GlnfsTer8) | gnomAD v4 |
3 | g.133777110C>A | CA354611138 | TF | c.1934C>A (p.Thr645Asn) c.665C>A n.2928C>A c.1802C>A (p.Thr601Asn) c.1553C>A (p.Thr518Asn) | |
3 | g.133777110C>G | CA354611142 | TF | c.1934C>G (p.Thr645Ser) c.665C>G n.2928C>G c.1802C>G (p.Thr601Ser) c.1553C>G (p.Thr518Ser) | |
3 | g.133777110C>T | CA354611140 | TF | c.1934C>T (p.Thr645Ile) c.665C>T n.2928C>T c.1802C>T (p.Thr601Ile) c.1553C>T (p.Thr518Ile) | COSMIC |
3 | g.133777111C>A | CA2625462 | TF | c.1935C>A (p.Thr645=) c.666C>A n.2929C>A c.1803C>A (p.Thr601=) c.1554C>A (p.Thr518=) | dbSNP ExAC |
3 | g.133777111C= | CA1403124838 | TF | c.1935C= (p.Thr645=) c.666C= n.2929C= c.1803C= (p.Thr601=) c.1554C= (p.Thr518=) | |
3 | g.133777111C>G | CA435815925 | TF | c.1935C>G (p.Thr645=) c.666C>G n.2929C>G c.1803C>G (p.Thr601=) c.1554C>G (p.Thr518=) | |
3 | g.133777111C>T | CA83694363 | TF | c.1935C>T (p.Thr645=) c.666C>T n.2929C>T c.1803C>T (p.Thr601=) c.1554C>T (p.Thr518=) | dbSNP gnomAD v4 |
3 | g.133777112A= | CA1403124845 | TF | c.1936A= (p.Lys646=) c.667A= n.2930A= c.1804A= (p.Lys602=) c.1555A= (p.Lys519=) | |
3 | g.133777112A>C | CA354611147 | TF | c.1936A>C (p.Lys646Gln) c.667A>C n.2930A>C c.1804A>C (p.Lys602Gln) c.1555A>C (p.Lys519Gln) | |
3 | g.133777112A>G | CA122565 | TF | c.1936A>G (p.Lys646Glu) c.667A>G n.2930A>G c.1804A>G (p.Lys602Glu) c.1555A>G (p.Lys519Glu) | ClinVar dbSNP |
3 | g.133777112A>T | CA354611151 | TF | c.1936A>T (p.Lys646Ter) c.667A>T n.2930A>T c.1804A>T (p.Lys602Ter) c.1555A>T (p.Lys519Ter) | |
3 | g.133777113A>C | CA354611155 | TF | c.1937A>C (p.Lys646Thr) c.668A>C n.2931A>C c.1805A>C (p.Lys602Thr) c.1556A>C (p.Lys519Thr) | |
3 | g.133777113A>G | CA354611157 | TF | c.1937A>G (p.Lys646Arg) c.668A>G n.2931A>G c.1805A>G (p.Lys602Arg) c.1556A>G (p.Lys519Arg) | |
3 | g.133777113A>T | CA354611159 | TF | c.1937A>T (p.Lys646Met) c.668A>T n.2931A>T c.1805A>T (p.Lys602Met) c.1556A>T (p.Lys519Met) | |
3 | g.133777114G>A | CA435815926 | TF | c.1938G>A (p.Lys646=) c.669G>A n.2932G>A c.1806G>A (p.Lys602=) c.1557G>A (p.Lys519=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.133777114G>C | CA354611162 | TF | c.1938G>C (p.Lys646Asn) c.669G>C n.2932G>C c.1806G>C (p.Lys602Asn) c.1557G>C (p.Lys519Asn) | |
3 | g.133777114G= | CA1403124853 | TF | c.1938G= (p.Lys646=) c.669G= n.2932G= c.1806G= (p.Lys602=) c.1557G= (p.Lys519=) | |
3 | g.133777114G>T | CA354611164 | TF | c.1938G>T (p.Lys646Asn) c.669G>T n.2932G>T c.1806G>T (p.Lys602Asn) c.1557G>T (p.Lys519Asn) | |
3 | g.133777115G>A | CA354611166 | TF | c.1939G>A (p.Asp647Asn) c.670G>A n.2933G>A c.1807G>A (p.Asp603Asn) c.1558G>A (p.Asp520Asn) | COSMIC |
3 | g.133777115G>C | CA354611168 | TF | c.1939G>C (p.Asp647His) c.670G>C n.2933G>C c.1807G>C (p.Asp603His) c.1558G>C (p.Asp520His) | |
3 | g.133777115G>T | CA354611170 | TF | c.1939G>T (p.Asp647Tyr) c.670G>T n.2933G>T c.1807G>T (p.Asp603Tyr) c.1558G>T (p.Asp520Tyr) | |
3 | g.133777116A>C | CA354611177 | TF | c.1940A>C (p.Asp647Ala) c.671A>C n.2934A>C c.1808A>C (p.Asp603Ala) c.1559A>C (p.Asp520Ala) | |
3 | g.133777116A>G | CA354611173 | TF | c.1940A>G (p.Asp647Gly) c.671A>G n.2934A>G c.1808A>G (p.Asp603Gly) c.1559A>G (p.Asp520Gly) | |
3 | g.133777116A>T | CA354611175 | TF | c.1940A>T (p.Asp647Val) c.671A>T n.2934A>T c.1808A>T (p.Asp603Val) c.1559A>T (p.Asp520Val) | gnomAD v4 |
3 | g.133777117C>A | CA354611180 | TF | c.1941C>A (p.Asp647Glu) c.672C>A n.2935C>A c.1809C>A (p.Asp603Glu) c.1560C>A (p.Asp520Glu) | dbSNP gnomAD v4 |
3 | g.133777117C= | CA1403124860 | TF | c.1941C= (p.Asp647=) c.672C= n.2935C= c.1809C= (p.Asp603=) c.1560C= (p.Asp520=) | |
3 | g.133777117C>G | CA354611182 | TF | c.1941C>G (p.Asp647Glu) c.672C>G n.2935C>G c.1809C>G (p.Asp603Glu) c.1560C>G (p.Asp520Glu) | |
3 | g.133777117C>T | CA2625463 | TF | c.1941C>T (p.Asp647=) c.672C>T n.2935C>T c.1809C>T (p.Asp603=) c.1560C>T (p.Asp520=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.133777118C>A | CA354611186 | TF | c.1942C>A (p.Leu648Ile) c.673C>A n.2936C>A c.1810C>A (p.Leu604Ile) c.1561C>A (p.Leu521Ile) | |
3 | g.133777118C= | CA1403124864 | TF | c.1942C= (p.Leu648=) c.673C= n.2936C= c.1810C= (p.Leu604=) c.1561C= (p.Leu521=) | |
3 | g.133777118C>G | CA354611188 | TF | c.1942C>G (p.Leu648Val) c.673C>G n.2936C>G c.1810C>G (p.Leu604Val) c.1561C>G (p.Leu521Val) | |
3 | g.133777118C>T | CA354611190 | TF | c.1942C>T (p.Leu648Phe) c.673C>T n.2936C>T c.1810C>T (p.Leu604Phe) c.1561C>T (p.Leu521Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.133777119T>A | CA354611192 | TF | c.1943T>A (p.Leu648His) c.674T>A n.2937T>A c.1811T>A (p.Leu604His) c.1562T>A (p.Leu521His) | |
3 | g.133777119T>C | CA354611194 | TF | c.1943T>C (p.Leu648Pro) c.674T>C n.2937T>C c.1811T>C (p.Leu604Pro) c.1562T>C (p.Leu521Pro) | |
3 | g.133777119T>G | CA354611196 | TF | c.1943T>G (p.Leu648Arg) c.674T>G n.2937T>G c.1811T>G (p.Leu604Arg) c.1562T>G (p.Leu521Arg) | |
3 | g.133777120T>A | CA435815927 | TF | c.1944T>A (p.Leu648=) c.675T>A n.2938T>A c.1812T>A (p.Leu604=) c.1563T>A (p.Leu521=) | |
3 | g.133777120T>C | CA435815928 | TF | c.1944T>C (p.Leu648=) c.675T>C n.2938T>C c.1812T>C (p.Leu604=) c.1563T>C (p.Leu521=) | |
3 | g.133777120T>G | CA435815929 | TF | c.1944T>G (p.Leu648=) c.675T>G n.2938T>G c.1812T>G (p.Leu604=) c.1563T>G (p.Leu521=) | |
3 | g.133777121C>A | CA354611198 | TF | c.1945C>A (p.Leu649Met) c.676C>A n.2939C>A c.1813C>A (p.Leu605Met) c.1564C>A (p.Leu522Met) | |
3 | g.133777121C= | CA1403124873 | TF | c.1945C= (p.Leu649=) c.676C= n.2939C= c.1813C= (p.Leu605=) c.1564C= (p.Leu522=) | |
3 | g.133777121C>G | CA354611200 | TF | c.1945C>G (p.Leu649Val) c.676C>G n.2939C>G c.1813C>G (p.Leu605Val) c.1564C>G (p.Leu522Val) | gnomAD v4 |
3 | g.133777121C>T | CA435815930 | TF | c.1945C>T (p.Leu649=) c.676C>T n.2939C>T c.1813C>T (p.Leu605=) c.1564C>T (p.Leu522=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.133777122T>A | CA354611207 | TF | c.1946T>A (p.Leu649Gln) c.677T>A n.2940T>A c.1814T>A (p.Leu605Gln) c.1565T>A (p.Leu522Gln) | |
3 | g.133777122T>C | CA354611205 | TF | c.1946T>C (p.Leu649Pro) c.677T>C n.2940T>C c.1814T>C (p.Leu605Pro) c.1565T>C (p.Leu522Pro) | |
3 | g.133777122T>G | CA354611203 | TF | c.1946T>G (p.Leu649Arg) c.677T>G n.2940T>G c.1814T>G (p.Leu605Arg) c.1565T>G (p.Leu522Arg) | |
3 | g.133777123G>A | CA435815931 | TF | c.1947G>A (p.Leu649=) c.678G>A n.2941G>A c.1815G>A (p.Leu605=) c.1566G>A (p.Leu522=) | gnomAD v4 |
3 | g.133777123G>C | CA435815932 | TF | c.1947G>C (p.Leu649=) c.678G>C n.2941G>C c.1815G>C (p.Leu605=) c.1566G>C (p.Leu522=) | |
3 | g.133777123G>T | CA435815933 | TF | c.1947G>T (p.Leu649=) c.678G>T n.2941G>T c.1815G>T (p.Leu605=) c.1566G>T (p.Leu522=) | |
3 | g.133777124T>A | CA354611209 | TF | c.1948T>A (p.Phe650Ile) c.679T>A n.2942T>A c.1816T>A (p.Phe606Ile) c.1567T>A (p.Phe523Ile) | |
3 | g.133777124T>C | CA354611213 | TF | c.1948T>C (p.Phe650Leu) c.679T>C n.2942T>C c.1816T>C (p.Phe606Leu) c.1567T>C (p.Phe523Leu) | |
3 | g.133777124T>G | CA354611211 | TF | c.1948T>G (p.Phe650Val) c.679T>G n.2942T>G c.1816T>G (p.Phe606Val) c.1567T>G (p.Phe523Val) | |
3 | g.133777125T>A | CA354611215 | TF | c.1949T>A (p.Phe650Tyr) c.680T>A n.2943T>A c.1817T>A (p.Phe606Tyr) c.1568T>A (p.Phe523Tyr) | |
3 | g.133777125T>C | CA354611220 | TF | c.1949T>C (p.Phe650Ser) c.680T>C n.2943T>C c.1817T>C (p.Phe606Ser) c.1568T>C (p.Phe523Ser) | |
3 | g.133777125T>G | CA354611217 | TF | c.1949T>G (p.Phe650Cys) c.680T>G n.2943T>G c.1817T>G (p.Phe606Cys) c.1568T>G (p.Phe523Cys) | |
3 | g.133777126C>A | CA354611223 | TF | c.1950C>A (p.Phe650Leu) c.681C>A n.2944C>A c.1818C>A (p.Phe606Leu) c.1569C>A (p.Phe523Leu) | |
3 | g.133777126C>G | CA354611225 | TF | c.1950C>G (p.Phe650Leu) c.681C>G n.2944C>G c.1818C>G (p.Phe606Leu) c.1569C>G (p.Phe523Leu) | |
3 | g.133777126C>T | CA435815934 | TF | c.1950C>T (p.Phe650=) c.681C>T n.2944C>T c.1818C>T (p.Phe606=) c.1569C>T (p.Phe523=) | |
3 | g.133777127A>C | CA435815935 | TF | c.1951A>C (p.Arg651=) c.682A>C n.2945A>C c.1819A>C (p.Arg607=) c.1570A>C (p.Arg524=) | |
3 | g.133777127A>G | CA354611228 | TF | c.1951A>G (p.Arg651Gly) c.682A>G n.2945A>G c.1819A>G (p.Arg607Gly) c.1570A>G (p.Arg524Gly) | |
3 | g.133777127A>T | CA354611229 | TF | c.1951A>T (p.Arg651Ter) c.682A>T n.2945A>T c.1819A>T (p.Arg607Ter) c.1570A>T (p.Arg524Ter) | |
3 | g.133777128G>A | CA354611232 | TF | c.1952G>A (p.Arg651Lys) c.683G>A n.2946G>A c.1820G>A (p.Arg607Lys) c.1571G>A (p.Arg524Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.133777128G>C | CA354611234 | TF | c.1952G>C (p.Arg651Thr) c.683G>C n.2946G>C c.1820G>C (p.Arg607Thr) c.1571G>C (p.Arg524Thr) | dbSNP |
3 | g.133777128G= | CA1403124876 | TF | c.1952G= (p.Arg651=) c.683G= n.2946G= c.1820G= (p.Arg607=) c.1571G= (p.Arg524=) | |
3 | g.133777128G>T | CA354611236 | TF | c.1952G>T (p.Arg651Ile) c.683G>T n.2946G>T c.1820G>T (p.Arg607Ile) c.1571G>T (p.Arg524Ile) | |
3 | g.133777128_133777130del | CA2667772269 | TF | c.1952_1954del (p.Arg651_Asp652delinsAsn) c.683_685del n.2946_2948del c.1820_1822del (p.Arg607_Asp608delinsAsn) c.1571_1573del (p.Arg524_Asp525delinsAsn) | gnomAD v4 |
3 | g.133777129A>C | CA354611238 | TF | c.1953A>C (p.Arg651Ser) c.684A>C n.2947A>C c.1821A>C (p.Arg607Ser) c.1572A>C (p.Arg524Ser) | |
3 | g.133777129A>G | CA435815936 | TF | c.1953A>G (p.Arg651=) c.684A>G n.2947A>G c.1821A>G (p.Arg607=) c.1572A>G (p.Arg524=) | |
3 | g.133777129A>T | CA354611241 | TF | c.1953A>T (p.Arg651Ser) c.684A>T n.2947A>T c.1821A>T (p.Arg607Ser) c.1572A>T (p.Arg524Ser) | |
3 | g.133777130G>A | CA354611244 | TF | c.1954G>A (p.Asp652Asn) c.685G>A n.2948G>A c.1822G>A (p.Asp608Asn) c.1573G>A (p.Asp525Asn) | |
3 | g.133777130G>C | CA354611246 | TF | c.1954G>C (p.Asp652His) c.685G>C n.2948G>C c.1822G>C (p.Asp608His) c.1573G>C (p.Asp525His) | |
3 | g.133777130G= | CA1403124879 | TF | c.1954G= (p.Asp652=) c.685G= n.2948G= c.1822G= (p.Asp608=) c.1573G= (p.Asp525=) | |
3 | g.133777130G>T | CA354611248 | TF | c.1954G>T (p.Asp652Tyr) c.685G>T n.2948G>T c.1822G>T (p.Asp608Tyr) c.1573G>T (p.Asp525Tyr) | dbSNP |
3 | g.133777131A>C | CA354611251 | TF | c.1955A>C (p.Asp652Ala) c.686A>C n.2949A>C c.1823A>C (p.Asp608Ala) c.1574A>C (p.Asp525Ala) | |
3 | g.133777131A>G | CA354611253 | TF | c.1955A>G (p.Asp652Gly) c.686A>G n.2949A>G c.1823A>G (p.Asp608Gly) c.1574A>G (p.Asp525Gly) | |
3 | g.133777131A>T | CA354611255 | TF | c.1955A>T (p.Asp652Val) c.686A>T n.2949A>T c.1823A>T (p.Asp608Val) c.1574A>T (p.Asp525Val) | gnomAD v4 |
3 | g.133777132T>A | CA354611257 | TF | c.1956T>A (p.Asp652Glu) c.687T>A n.2950T>A c.1824T>A (p.Asp608Glu) c.1575T>A (p.Asp525Glu) | gnomAD v4 |
3 | g.133777132T>C | CA83694373 | TF | c.1956T>C (p.Asp652=) c.687T>C n.2950T>C c.1824T>C (p.Asp608=) c.1575T>C (p.Asp525=) | dbSNP |
3 | g.133777132T>G | CA354611259 | TF | c.1956T>G (p.Asp652Glu) c.687T>G n.2950T>G c.1824T>G (p.Asp608Glu) c.1575T>G (p.Asp525Glu) | |
3 | g.133777132T= | CA1403124882 | TF | c.1956T= (p.Asp652=) c.687T= n.2950T= c.1824T= (p.Asp608=) c.1575T= (p.Asp525=) | |
3 | g.133777133G>A | CA83694379 | TF | c.1957G>A (p.Asp653Asn) c.688G>A n.2951G>A c.1825G>A (p.Asp609Asn) c.1576G>A (p.Asp526Asn) | dbSNP |
3 | g.133777133G>C | CA354611265 | TF | c.1957G>C (p.Asp653His) c.688G>C n.2951G>C c.1825G>C (p.Asp609His) c.1576G>C (p.Asp526His) | |
3 | g.133777133G= | CA1403124887 | TF | c.1957G= (p.Asp653=) c.688G= n.2951G= c.1825G= (p.Asp609=) c.1576G= (p.Asp526=) | |
3 | g.133777133G>T | CA354611263 | TF | c.1957G>T (p.Asp653Tyr) c.688G>T n.2951G>T c.1825G>T (p.Asp609Tyr) c.1576G>T (p.Asp526Tyr) | gnomAD v4 |
3 | g.133777134A= | CA1403124891 | TF | c.1958A= (p.Asp653=) c.689A= n.2952A= c.1826A= (p.Asp609=) c.1577A= (p.Asp526=) | |
3 | g.133777134A>C | CA354611267 | TF | c.1958A>C (p.Asp653Ala) c.689A>C n.2952A>C c.1826A>C (p.Asp609Ala) c.1577A>C (p.Asp526Ala) | |
3 | g.133777134A>G | CA354611269 | TF | c.1958A>G (p.Asp653Gly) c.689A>G n.2952A>G c.1826A>G (p.Asp609Gly) c.1577A>G (p.Asp526Gly) | dbSNP |
3 | g.133777134A>T | CA354611271 | TF | c.1958A>T (p.Asp653Val) c.689A>T n.2952A>T c.1826A>T (p.Asp609Val) c.1577A>T (p.Asp526Val) | |
3 | g.133777135C>A | CA354611272 | TF | c.1959C>A (p.Asp653Glu) c.690C>A n.2953C>A c.1827C>A (p.Asp609Glu) c.1578C>A (p.Asp526Glu) | |
3 | g.133777135C>G | CA354611273 | TF | c.1959C>G (p.Asp653Glu) c.690C>G n.2953C>G c.1827C>G (p.Asp609Glu) c.1578C>G (p.Asp526Glu) | |
3 | g.133777135C>T | CA435815937 | TF | c.1959C>T (p.Asp653=) c.690C>T n.2953C>T c.1827C>T (p.Asp609=) c.1578C>T (p.Asp526=) | gnomAD v4 |