Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.17339577T>ACA366895111AHRc.1752T>A (p.Tyr584Ter)
c.1722T>A (p.Tyr574Ter)
c.1707T>A (p.Tyr569Ter)
7g.17339577T>CCA454134154AHRc.1752T>C (p.Tyr584=)
c.1722T>C (p.Tyr574=)
c.1707T>C (p.Tyr569=)
7g.17339577T>GCA366895112AHRc.1752T>G (p.Tyr584Ter)
c.1722T>G (p.Tyr574Ter)
c.1707T>G (p.Tyr569Ter)
7g.17339578G>ACA366895113AHRc.1753G>A (p.Val585Ile)
c.1723G>A (p.Val575Ile)
c.1708G>A (p.Val570Ile)
 dbSNP gnomAD v4
7g.17339578G>CCA366895114AHRc.1753G>C (p.Val585Leu)
c.1723G>C (p.Val575Leu)
c.1708G>C (p.Val570Leu)
 gnomAD v4
7g.17339578G=CA1691323885AHRc.1753G= (p.Val585=)
c.1723G= (p.Val575=)
c.1708G= (p.Val570=)
7g.17339578G>TCA366895115AHRc.1753G>T (p.Val585Phe)
c.1723G>T (p.Val575Phe)
c.1708G>T (p.Val570Phe)
7g.17339579T>ACA366895118AHRc.1754T>A (p.Val585Asp)
c.1724T>A (p.Val575Asp)
c.1709T>A (p.Val570Asp)
7g.17339579T>CCA366895117AHRc.1754T>C (p.Val585Ala)
c.1724T>C (p.Val575Ala)
c.1709T>C (p.Val570Ala)
 gnomAD v4
7g.17339579T>GCA366895116AHRc.1754T>G (p.Val585Gly)
c.1724T>G (p.Val575Gly)
c.1709T>G (p.Val570Gly)
7g.17339580C>ACA454134155AHRc.1755C>A (p.Val585=)
c.1725C>A (p.Val575=)
c.1710C>A (p.Val570=)
 gnomAD v4
7g.17339580C=CA1691323886AHRc.1755C= (p.Val585=)
c.1725C= (p.Val575=)
c.1710C= (p.Val570=)
7g.17339580C>GCA454134156AHRc.1755C>G (p.Val585=)
c.1725C>G (p.Val575=)
c.1710C>G (p.Val570=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.17339580C>TCA4172177AHRc.1755C>T (p.Val585=)
c.1725C>T (p.Val575=)
c.1710C>T (p.Val570=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.17339581C>ACA366895119AHRc.1756C>A (p.Gln586Lys)
c.1726C>A (p.Gln576Lys)
c.1711C>A (p.Gln571Lys)
7g.17339581C>GCA366895121AHRc.1756C>G (p.Gln586Glu)
c.1726C>G (p.Gln576Glu)
c.1711C>G (p.Gln571Glu)
7g.17339581C>TCA366895120AHRc.1756C>T (p.Gln586Ter)
c.1726C>T (p.Gln576Ter)
c.1711C>T (p.Gln571Ter)
7g.17339582A>CCA366895122AHRc.1757A>C (p.Gln586Pro)
c.1727A>C (p.Gln576Pro)
c.1712A>C (p.Gln571Pro)
7g.17339582A>GCA366895123AHRc.1757A>G (p.Gln586Arg)
c.1727A>G (p.Gln576Arg)
c.1712A>G (p.Gln571Arg)
7g.17339582A>TCA366895124AHRc.1757A>T (p.Gln586Leu)
c.1727A>T (p.Gln576Leu)
c.1712A>T (p.Gln571Leu)
7g.17339583A=CA1691323887AHRc.1758A= (p.Gln586=)
c.1728A= (p.Gln576=)
c.1713A= (p.Gln571=)
7g.17339583A>CCA4172178AHRc.1758A>C (p.Gln586His)
c.1728A>C (p.Gln576His)
c.1713A>C (p.Gln571His)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.17339583A>GCA454134157AHRc.1758A>G (p.Gln586=)
c.1728A>G (p.Gln576=)
c.1713A>G (p.Gln571=)
 gnomAD v4
7g.17339583A>TCA366895125AHRc.1758A>T (p.Gln586His)
c.1728A>T (p.Gln576His)
c.1713A>T (p.Gln571His)
7g.17339584G>ACA366895126AHRc.1759G>A (p.Asp587Asn)
c.1729G>A (p.Asp577Asn)
c.1714G>A (p.Asp572Asn)
7g.17339584G>CCA366895127AHRc.1759G>C (p.Asp587His)
c.1729G>C (p.Asp577His)
c.1714G>C (p.Asp572His)
7g.17339584G>TCA366895128AHRc.1759G>T (p.Asp587Tyr)
c.1729G>T (p.Asp577Tyr)
c.1714G>T (p.Asp572Tyr)
7g.17339585A>CCA366895129AHRc.1760A>C (p.Asp587Ala)
c.1730A>C (p.Asp577Ala)
c.1715A>C (p.Asp572Ala)
7g.17339585A>GCA366895130AHRc.1760A>G (p.Asp587Gly)
c.1730A>G (p.Asp577Gly)
c.1715A>G (p.Asp572Gly)
7g.17339585A>TCA366895131AHRc.1760A>T (p.Asp587Val)
c.1730A>T (p.Asp577Val)
c.1715A>T (p.Asp572Val)
7g.17339586T>ACA366895132AHRc.1761T>A (p.Asp587Glu)
c.1731T>A (p.Asp577Glu)
c.1716T>A (p.Asp572Glu)
7g.17339586T>CCA454134158AHRc.1761T>C (p.Asp587=)
c.1731T>C (p.Asp577=)
c.1716T>C (p.Asp572=)
 dbSNP
7g.17339586T>GCA366895133AHRc.1761T>G (p.Asp587Glu)
c.1731T>G (p.Asp577Glu)
c.1716T>G (p.Asp572Glu)
7g.17339586T=CA1691323888AHRc.1761T= (p.Asp587=)
c.1731T= (p.Asp577=)
c.1716T= (p.Asp572=)
7g.17339587T>ACA366895134AHRc.1762T>A (p.Ser588Thr)
c.1732T>A (p.Ser578Thr)
c.1717T>A (p.Ser573Thr)
7g.17339587T>CCA366895136AHRc.1762T>C (p.Ser588Pro)
c.1732T>C (p.Ser578Pro)
c.1717T>C (p.Ser573Pro)
7g.17339587T>GCA366895135AHRc.1762T>G (p.Ser588Ala)
c.1732T>G (p.Ser578Ala)
c.1717T>G (p.Ser573Ala)
7g.17339588C>ACA366895137AHRc.1763C>A (p.Ser588Tyr)
c.1733C>A (p.Ser578Tyr)
c.1718C>A (p.Ser573Tyr)
 gnomAD v4
7g.17339588C=CA1691323889AHRc.1763C= (p.Ser588=)
c.1733C= (p.Ser578=)
c.1718C= (p.Ser573=)
7g.17339588C>GCA4172179AHRc.1763C>G (p.Ser588Cys)
c.1733C>G (p.Ser578Cys)
c.1718C>G (p.Ser573Cys)
 dbSNP ExAC gnomAD v2
7g.17339588C>TCA366895138AHRc.1763C>T (p.Ser588Phe)
c.1733C>T (p.Ser578Phe)
c.1718C>T (p.Ser573Phe)
7g.17339589T>ACA454134159AHRc.1764T>A (p.Ser588=)
c.1734T>A (p.Ser578=)
c.1719T>A (p.Ser573=)
7g.17339589T>CCA454134161AHRc.1764T>C (p.Ser588=)
c.1734T>C (p.Ser578=)
c.1719T>C (p.Ser573=)
7g.17339589T>GCA454134160AHRc.1764T>G (p.Ser588=)
c.1734T>G (p.Ser578=)
c.1719T>G (p.Ser573=)
7g.17339590T>ACA366895139AHRc.1765T>A (p.Leu589Ile)
c.1735T>A (p.Leu579Ile)
c.1720T>A (p.Leu574Ile)
7g.17339590T>CCA454134162AHRc.1765T>C (p.Leu589=)
c.1735T>C (p.Leu579=)
c.1720T>C (p.Leu574=)
7g.17339590T>GCA366895140AHRc.1765T>G (p.Leu589Val)
c.1735T>G (p.Leu579Val)
c.1720T>G (p.Leu574Val)
 gnomAD v4
7g.17339590_17339594delinsTTAAGCA1691323890AHRc.1765_1769delinsTTAAG (p.Leu589=)
c.1735_1739delinsTTAAG (p.Leu579=)
c.1720_1724delinsTTAAG (p.Leu574=)
7g.17339591T>ACA366895141AHRc.1766T>A (p.Leu589Ter)
c.1736T>A (p.Leu579Ter)
c.1721T>A (p.Leu574Ter)
7g.17339591T>CCA366895142AHRc.1766T>C (p.Leu589Ser)
c.1736T>C (p.Leu579Ser)
c.1721T>C (p.Leu574Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.17339591T>GCA366895143AHRc.1766T>G (p.Leu589Ter)
c.1736T>G (p.Leu579Ter)
c.1721T>G (p.Leu574Ter)
 gnomAD v4
7g.17339591T=CA1691323891AHRc.1766T= (p.Leu589=)
c.1736T= (p.Leu579=)
c.1721T= (p.Leu574=)
7g.17339596_17339599delCA1098901327AHRc.1771_1774del (p.Lys591LeufsTer16)
c.1741_1744del (p.Lys581LeufsTer16)
c.1726_1729del (p.Lys576LeufsTer16)
 dbSNP gnomAD v3 gnomAD v4
7g.17339592A>CCA366895144AHRc.1767A>C (p.Leu589Phe)
c.1737A>C (p.Leu579Phe)
c.1722A>C (p.Leu574Phe)
7g.17339592A>GCA454134163AHRc.1767A>G (p.Leu589=)
c.1737A>G (p.Leu579=)
c.1722A>G (p.Leu574=)
7g.17339592A>TCA366895145AHRc.1767A>T (p.Leu589Phe)
c.1737A>T (p.Leu579Phe)
c.1722A>T (p.Leu574Phe)
7g.17339593A=CA1691323892AHRc.1768A= (p.Ser590=)
c.1738A= (p.Ser580=)
c.1723A= (p.Ser575=)
7g.17339593A>CCA366895148AHRc.1768A>C (p.Ser590Arg)
c.1738A>C (p.Ser580Arg)
c.1723A>C (p.Ser575Arg)
 dbSNP gnomAD v4
7g.17339593A>GCA366895147AHRc.1768A>G (p.Ser590Gly)
c.1738A>G (p.Ser580Gly)
c.1723A>G (p.Ser575Gly)
7g.17339593A>TCA366895146AHRc.1768A>T (p.Ser590Cys)
c.1738A>T (p.Ser580Cys)
c.1723A>T (p.Ser575Cys)
7g.17339594G>ACA366895149AHRc.1769G>A (p.Ser590Asn)
c.1739G>A (p.Ser580Asn)
c.1724G>A (p.Ser575Asn)
 dbSNP gnomAD v2
7g.17339594G>CCA366895150AHRc.1769G>C (p.Ser590Thr)
c.1739G>C (p.Ser580Thr)
c.1724G>C (p.Ser575Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.17339594G=CA1691323893AHRc.1769G= (p.Ser590=)
c.1739G= (p.Ser580=)
c.1724G= (p.Ser575=)
7g.17339594G>TCA366895151AHRc.1769G>T (p.Ser590Ile)
c.1739G>T (p.Ser580Ile)
c.1724G>T (p.Ser575Ile)
7g.17339595T>ACA366895152AHRc.1770T>A (p.Ser590Arg)
c.1740T>A (p.Ser580Arg)
c.1725T>A (p.Ser575Arg)
7g.17339595T>CCA454134164AHRc.1770T>C (p.Ser590=)
c.1740T>C (p.Ser580=)
c.1725T>C (p.Ser575=)
7g.17339595T>GCA366895153AHRc.1770T>G (p.Ser590Arg)
c.1740T>G (p.Ser580Arg)
c.1725T>G (p.Ser575Arg)
7g.17339596A>CCA366895154AHRc.1771A>C (p.Lys591Gln)
c.1741A>C (p.Lys581Gln)
c.1726A>C (p.Lys576Gln)
7g.17339596A>GCA366895155AHRc.1771A>G (p.Lys591Glu)
c.1741A>G (p.Lys581Glu)
c.1726A>G (p.Lys576Glu)
 gnomAD v4
7g.17339596A>TCA366895156AHRc.1771A>T (p.Lys591Ter)
c.1741A>T (p.Lys581Ter)
c.1726A>T (p.Lys576Ter)
7g.17339597A>CCA366895157AHRc.1772A>C (p.Lys591Thr)
c.1742A>C (p.Lys581Thr)
c.1727A>C (p.Lys576Thr)
7g.17339597A>GCA366895158AHRc.1772A>G (p.Lys591Arg)
c.1742A>G (p.Lys581Arg)
c.1727A>G (p.Lys576Arg)
7g.17339597A>TCA366895159AHRc.1772A>T (p.Lys591Met)
c.1742A>T (p.Lys581Met)
c.1727A>T (p.Lys576Met)
 gnomAD v4
7g.17339598G>ACA454134165AHRc.1773G>A (p.Lys591=)
c.1743G>A (p.Lys581=)
c.1728G>A (p.Lys576=)
7g.17339598G>CCA366895160AHRc.1773G>C (p.Lys591Asn)
c.1743G>C (p.Lys581Asn)
c.1728G>C (p.Lys576Asn)
 gnomAD v4
7g.17339598G>TCA366895161AHRc.1773G>T (p.Lys591Asn)
c.1743G>T (p.Lys581Asn)
c.1728G>T (p.Lys576Asn)
7g.17339599T>ACA366895164AHRc.1774T>A (p.Ser592Thr)
c.1744T>A (p.Ser582Thr)
c.1729T>A (p.Ser577Thr)
7g.17339599T>CCA366895162AHRc.1774T>C (p.Ser592Pro)
c.1744T>C (p.Ser582Pro)
c.1729T>C (p.Ser577Pro)
7g.17339599T>GCA366895163AHRc.1774T>G (p.Ser592Ala)
c.1744T>G (p.Ser582Ala)
c.1729T>G (p.Ser577Ala)
7g.17339600C>ACA366895165AHRc.1775C>A (p.Ser592Tyr)
c.1745C>A (p.Ser582Tyr)
c.1730C>A (p.Ser577Tyr)
7g.17339600C=CA1691323894AHRc.1775C= (p.Ser592=)
c.1745C= (p.Ser582=)
c.1730C= (p.Ser577=)
7g.17339600C>GCA4172180AHRc.1775C>G (p.Ser592Cys)
c.1745C>G (p.Ser582Cys)
c.1730C>G (p.Ser577Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.17339600C>TCA366895166AHRc.1775C>T (p.Ser592Phe)
c.1745C>T (p.Ser582Phe)
c.1730C>T (p.Ser577Phe)
 gnomAD v4
7g.17339601T>ACA454134166AHRc.1776T>A (p.Ser592=)
c.1746T>A (p.Ser582=)
c.1731T>A (p.Ser577=)
7g.17339601T>CCA454134167AHRc.1776T>C (p.Ser592=)
c.1746T>C (p.Ser582=)
c.1731T>C (p.Ser577=)
7g.17339601T>GCA454134168AHRc.1776T>G (p.Ser592=)
c.1746T>G (p.Ser582=)
c.1731T>G (p.Ser577=)
7g.17339602C>ACA366895167AHRc.1777C>A (p.Pro593Thr)
c.1747C>A (p.Pro583Thr)
c.1732C>A (p.Pro578Thr)
7g.17339602C=CA1691323895AHRc.1777C= (p.Pro593=)
c.1747C= (p.Pro583=)
c.1732C= (p.Pro578=)
7g.17339602C>GCA4172181AHRc.1777C>G (p.Pro593Ala)
c.1747C>G (p.Pro583Ala)
c.1732C>G (p.Pro578Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.17339602C>TCA366895168AHRc.1777C>T (p.Pro593Ser)
c.1747C>T (p.Pro583Ser)
c.1732C>T (p.Pro578Ser)
 dbSNP gnomAD v2 gnomAD v4
7g.17339603C>ACA366895169AHRc.1778C>A (p.Pro593His)
c.1748C>A (p.Pro583His)
c.1733C>A (p.Pro578His)
7g.17339603C>GCA366895170AHRc.1778C>G (p.Pro593Arg)
c.1748C>G (p.Pro583Arg)
c.1733C>G (p.Pro578Arg)
7g.17339603C>TCA366895171AHRc.1778C>T (p.Pro593Leu)
c.1748C>T (p.Pro583Leu)
c.1733C>T (p.Pro578Leu)
7g.17339604C>ACA454134171AHRc.1779C>A (p.Pro593=)
c.1749C>A (p.Pro583=)
c.1734C>A (p.Pro578=)
7g.17339604C>GCA454134169AHRc.1779C>G (p.Pro593=)
c.1749C>G (p.Pro583=)
c.1734C>G (p.Pro578=)
7g.17339604C>TCA454134170AHRc.1779C>T (p.Pro593=)
c.1749C>T (p.Pro583=)
c.1734C>T (p.Pro578=)
7g.17339605T>ACA366895172AHRc.1780T>A (p.Phe594Ile)
c.1750T>A (p.Phe584Ile)
c.1735T>A (p.Phe579Ile)
7g.17339605T>CCA366895173AHRc.1780T>C (p.Phe594Leu)
c.1750T>C (p.Phe584Leu)
c.1735T>C (p.Phe579Leu)
 dbSNP
7g.17339605T>GCA366895174AHRc.1780T>G (p.Phe594Val)
c.1750T>G (p.Phe584Val)
c.1735T>G (p.Phe579Val)
7g.17339605T=CA1691323896AHRc.1780T= (p.Phe594=)
c.1750T= (p.Phe584=)
c.1735T= (p.Phe579=)
7g.17339606delCA2681909912AHRc.1781del (p.Phe594SerfsTer14)
c.1751del (p.Phe584SerfsTer14)
c.1736del (p.Phe579SerfsTer14)
 gnomAD v4
7g.17339606T>ACA366895176AHRc.1781T>A (p.Phe594Tyr)
c.1751T>A (p.Phe584Tyr)
c.1736T>A (p.Phe579Tyr)
7g.17339606T>CCA366895177AHRc.1781T>C (p.Phe594Ser)
c.1751T>C (p.Phe584Ser)
c.1736T>C (p.Phe579Ser)
7g.17339606T>GCA366895175AHRc.1781T>G (p.Phe594Cys)
c.1751T>G (p.Phe584Cys)
c.1736T>G (p.Phe579Cys)
7g.17339607C>ACA366895178AHRc.1782C>A (p.Phe594Leu)
c.1752C>A (p.Phe584Leu)
c.1737C>A (p.Phe579Leu)
 gnomAD v4
7g.17339607C>GCA366895179AHRc.1782C>G (p.Phe594Leu)
c.1752C>G (p.Phe584Leu)
c.1737C>G (p.Phe579Leu)
7g.17339607C>TCA454134172AHRc.1782C>T (p.Phe594=)
c.1752C>T (p.Phe584=)
c.1737C>T (p.Phe579=)
7g.17339608A=CA1691323897AHRc.1783A= (p.Ile595=)
c.1753A= (p.Ile585=)
c.1738A= (p.Ile580=)
7g.17339608A>CCA366895180AHRc.1783A>C (p.Ile595Leu)
c.1753A>C (p.Ile585Leu)
c.1738A>C (p.Ile580Leu)
 dbSNP gnomAD v3 gnomAD v4
7g.17339608A>GCA366895181AHRc.1783A>G (p.Ile595Val)
c.1753A>G (p.Ile585Val)
c.1738A>G (p.Ile580Val)
7g.17339608A>TCA366895182AHRc.1783A>T (p.Ile595Leu)
c.1753A>T (p.Ile585Leu)
c.1738A>T (p.Ile580Leu)
7g.17339609T>ACA366895183AHRc.1784T>A (p.Ile595Lys)
c.1754T>A (p.Ile585Lys)
c.1739T>A (p.Ile580Lys)
7g.17339609T>CCA366895184AHRc.1784T>C (p.Ile595Thr)
c.1754T>C (p.Ile585Thr)
c.1739T>C (p.Ile580Thr)
7g.17339609T>GCA366895185AHRc.1784T>G (p.Ile595Arg)
c.1754T>G (p.Ile585Arg)
c.1739T>G (p.Ile580Arg)
7g.17339610A>CCA454134173AHRc.1785A>C (p.Ile595=)
c.1755A>C (p.Ile585=)
c.1740A>C (p.Ile580=)
7g.17339610A>GCA366895186AHRc.1785A>G (p.Ile595Met)
c.1755A>G (p.Ile585Met)
c.1740A>G (p.Ile580Met)
7g.17339610A>TCA454134174AHRc.1785A>T (p.Ile595=)
c.1755A>T (p.Ile585=)
c.1740A>T (p.Ile580=)
7g.17339611C>ACA366895187AHRc.1786C>A (p.Pro596Thr)
c.1756C>A (p.Pro586Thr)
c.1741C>A (p.Pro581Thr)
7g.17339611C=CA1691323898AHRc.1786C= (p.Pro596=)
c.1756C= (p.Pro586=)
c.1741C= (p.Pro581=)
7g.17339611C>GCA366895188AHRc.1786C>G (p.Pro596Ala)
c.1756C>G (p.Pro586Ala)
c.1741C>G (p.Pro581Ala)
7g.17339611C>TCA366895189AHRc.1786C>T (p.Pro596Ser)
c.1756C>T (p.Pro586Ser)
c.1741C>T (p.Pro581Ser)
 dbSNP gnomAD v4
7g.17339612C>ACA366895190AHRc.1787C>A (p.Pro596His)
c.1757C>A (p.Pro586His)
c.1742C>A (p.Pro581His)
7g.17339612C>GCA366895191AHRc.1787C>G (p.Pro596Arg)
c.1757C>G (p.Pro586Arg)
c.1742C>G (p.Pro581Arg)
7g.17339612C>TCA366895192AHRc.1787C>T (p.Pro596Leu)
c.1757C>T (p.Pro586Leu)
c.1742C>T (p.Pro581Leu)
7g.17339613T>ACA454134175AHRc.1788T>A (p.Pro596=)
c.1758T>A (p.Pro586=)
c.1743T>A (p.Pro581=)
7g.17339613T>CCA454134176AHRc.1788T>C (p.Pro596=)
c.1758T>C (p.Pro586=)
c.1743T>C (p.Pro581=)
7g.17339613T>GCA454134177AHRc.1788T>G (p.Pro596=)
c.1758T>G (p.Pro586=)
c.1743T>G (p.Pro581=)
7g.17339614T>ACA366895195AHRc.1789T>A (p.Ser597Thr)
c.1759T>A (p.Ser587Thr)
c.1744T>A (p.Ser582Thr)
7g.17339614T>CCA366895193AHRc.1789T>C (p.Ser597Pro)
c.1759T>C (p.Ser587Pro)
c.1744T>C (p.Ser582Pro)
7g.17339614T>GCA366895194AHRc.1789T>G (p.Ser597Ala)
c.1759T>G (p.Ser587Ala)
c.1744T>G (p.Ser582Ala)
 gnomAD v4
7g.17339615C>ACA366895196AHRc.1790C>A (p.Ser597Ter)
c.1760C>A (p.Ser587Ter)
c.1745C>A (p.Ser582Ter)
7g.17339615C=CA1691323899AHRc.1790C= (p.Ser597=)
c.1760C= (p.Ser587=)
c.1745C= (p.Ser582=)
7g.17339615C>GCA366895197AHRc.1790C>G (p.Ser597Ter)
c.1760C>G (p.Ser587Ter)
c.1745C>G (p.Ser582Ter)
 COSMIC
7g.17339615C>TCA366895198AHRc.1790C>T (p.Ser597Leu)
c.1760C>T (p.Ser587Leu)
c.1745C>T (p.Ser582Leu)
 dbSNP gnomAD v3 gnomAD v4
7g.17339616A=CA1691323900AHRc.1791A= (p.Ser597=)
c.1761A= (p.Ser587=)
c.1746A= (p.Ser582=)
7g.17339616A>CCA454134178AHRc.1791A>C (p.Ser597=)
c.1761A>C (p.Ser587=)
c.1746A>C (p.Ser582=)
 dbSNP gnomAD v3 gnomAD v4
7g.17339616A>GCA154120882AHRc.1791A>G (p.Ser597=)
c.1761A>G (p.Ser587=)
c.1746A>G (p.Ser582=)
 dbSNP gnomAD v3 gnomAD v4
7g.17339616A>TCA4172182AHRc.1791A>T (p.Ser597=)
c.1761A>T (p.Ser587=)
c.1746A>T (p.Ser582=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.17339617G>ACA366895199AHRc.1792G>A (p.Asp598Asn)
c.1762G>A (p.Asp588Asn)
c.1747G>A (p.Asp583Asn)
7g.17339617G>CCA366895200AHRc.1792G>C (p.Asp598His)
c.1762G>C (p.Asp588His)
c.1747G>C (p.Asp583His)
7g.17339617G>TCA366895201AHRc.1792G>T (p.Asp598Tyr)
c.1762G>T (p.Asp588Tyr)
c.1747G>T (p.Asp583Tyr)
7g.17339618A=CA1691323901AHRc.1793A= (p.Asp598=)
c.1763A= (p.Asp588=)
c.1748A= (p.Asp583=)
7g.17339618A>CCA366895202AHRc.1793A>C (p.Asp598Ala)
c.1763A>C (p.Asp588Ala)
c.1748A>C (p.Asp583Ala)
7g.17339618A>GCA4172183AHRc.1793A>G (p.Asp598Gly)
c.1763A>G (p.Asp588Gly)
c.1748A>G (p.Asp583Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.17339618A>TCA366895203AHRc.1793A>T (p.Asp598Val)
c.1763A>T (p.Asp588Val)
c.1748A>T (p.Asp583Val)
7g.17339619T>ACA366895204AHRc.1794T>A (p.Asp598Glu)
c.1764T>A (p.Asp588Glu)
c.1749T>A (p.Asp583Glu)
7g.17339619T>CCA454134179AHRc.1794T>C (p.Asp598=)
c.1764T>C (p.Asp588=)
c.1749T>C (p.Asp583=)
7g.17339619T>GCA366895205AHRc.1794T>G (p.Asp598Glu)
c.1764T>G (p.Asp588Glu)
c.1749T>G (p.Asp583Glu)
7g.17339620T>ACA366895206AHRc.1795T>A (p.Tyr599Asn)
c.1765T>A (p.Tyr589Asn)
c.1750T>A (p.Tyr584Asn)
7g.17339620T>CCA366895208AHRc.1795T>C (p.Tyr599His)
c.1765T>C (p.Tyr589His)
c.1750T>C (p.Tyr584His)
7g.17339620T>GCA366895207AHRc.1795T>G (p.Tyr599Asp)
c.1765T>G (p.Tyr589Asp)
c.1750T>G (p.Tyr584Asp)
7g.17339621A=CA1691323902AHRc.1796A= (p.Tyr599=)
c.1766A= (p.Tyr589=)
c.1751A= (p.Tyr584=)
7g.17339621A>CCA366895209AHRc.1796A>C (p.Tyr599Ser)
c.1766A>C (p.Tyr589Ser)
c.1751A>C (p.Tyr584Ser)
7g.17339621A>GCA4172184AHRc.1796A>G (p.Tyr599Cys)
c.1766A>G (p.Tyr589Cys)
c.1751A>G (p.Tyr584Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.17339621A>TCA366895210AHRc.1796A>T (p.Tyr599Phe)
c.1766A>T (p.Tyr589Phe)
c.1751A>T (p.Tyr584Phe)
7g.17339622T>ACA366895211AHRc.1797T>A (p.Tyr599Ter)
c.1767T>A (p.Tyr589Ter)
c.1752T>A (p.Tyr584Ter)
7g.17339622T>CCA454134180AHRc.1797T>C (p.Tyr599=)
c.1767T>C (p.Tyr589=)
c.1752T>C (p.Tyr584=)
7g.17339622T>GCA366895212AHRc.1797T>G (p.Tyr599Ter)
c.1767T>G (p.Tyr589Ter)
c.1752T>G (p.Tyr584Ter)
7g.17339623C>ACA366895213AHRc.1798C>A (p.Gln600Lys)
c.1768C>A (p.Gln590Lys)
c.1753C>A (p.Gln585Lys)
7g.17339623C>GCA366895214AHRc.1798C>G (p.Gln600Glu)
c.1768C>G (p.Gln590Glu)
c.1753C>G (p.Gln585Glu)
7g.17339623C>TCA366895215AHRc.1798C>T (p.Gln600Ter)
c.1768C>T (p.Gln590Ter)
c.1753C>T (p.Gln585Ter)
7g.17339624A>CCA366895216AHRc.1799A>C (p.Gln600Pro)
c.1769A>C (p.Gln590Pro)
c.1754A>C (p.Gln585Pro)
7g.17339624A>GCA366895217AHRc.1799A>G (p.Gln600Arg)
c.1769A>G (p.Gln590Arg)
c.1754A>G (p.Gln585Arg)
7g.17339624A>TCA366895218AHRc.1799A>T (p.Gln600Leu)
c.1769A>T (p.Gln590Leu)
c.1754A>T (p.Gln585Leu)
7g.17339625A=CA1691323903AHRc.1800A= (p.Gln600=)
c.1770A= (p.Gln590=)
c.1755A= (p.Gln585=)
7g.17339625A>CCA366895220AHRc.1800A>C (p.Gln600His)
c.1770A>C (p.Gln590His)
c.1755A>C (p.Gln585His)
 gnomAD v4
7g.17339625A>GCA4172185AHRc.1800A>G (p.Gln600=)
c.1770A>G (p.Gln590=)
c.1755A>G (p.Gln585=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.17339625A>TCA366895219AHRc.1800A>T (p.Gln600His)
c.1770A>T (p.Gln590His)
c.1755A>T (p.Gln585His)
7g.17339626C>ACA366895221AHRc.1801C>A (p.Gln601Lys)
c.1771C>A (p.Gln591Lys)
c.1756C>A (p.Gln586Lys)
7g.17339626C=CA1691323904AHRc.1801C= (p.Gln601=)
c.1771C= (p.Gln591=)
c.1756C= (p.Gln586=)
7g.17339626C>GCA366895222AHRc.1801C>G (p.Gln601Glu)
c.1771C>G (p.Gln591Glu)
c.1756C>G (p.Gln586Glu)
7g.17339626C>TCA154120903AHRc.1801C>T (p.Gln601Ter)
c.1771C>T (p.Gln591Ter)
c.1756C>T (p.Gln586Ter)
 dbSNP
7g.17339627A=CA1691323905AHRc.1802A= (p.Gln601=)
c.1772A= (p.Gln591=)
c.1757A= (p.Gln586=)
7g.17339627A>CCA366895223AHRc.1802A>C (p.Gln601Pro)
c.1772A>C (p.Gln591Pro)
c.1757A>C (p.Gln586Pro)
7g.17339627A>GCA366895224AHRc.1802A>G (p.Gln601Arg)
c.1772A>G (p.Gln591Arg)
c.1757A>G (p.Gln586Arg)
 dbSNP gnomAD v2 gnomAD v4
7g.17339627A>TCA366895225AHRc.1802A>T (p.Gln601Leu)
c.1772A>T (p.Gln591Leu)
c.1757A>T (p.Gln586Leu)
7g.17339628G>ACA154120917AHRc.1803G>A (p.Gln601=)
c.1773G>A (p.Gln591=)
c.1758G>A (p.Gln586=)
 dbSNP
7g.17339628G>CCA366895226AHRc.1803G>C (p.Gln601His)
c.1773G>C (p.Gln591His)
c.1758G>C (p.Gln586His)
7g.17339628G=CA1691323906AHRc.1803G= (p.Gln601=)
c.1773G= (p.Gln591=)
c.1758G= (p.Gln586=)
7g.17339628G>TCA366895227AHRc.1803G>T (p.Gln601His)
c.1773G>T (p.Gln591His)
c.1758G>T (p.Gln586His)
7g.17339629C>ACA366895228AHRc.1804C>A (p.Gln602Lys)
c.1774C>A (p.Gln592Lys)
c.1759C>A (p.Gln587Lys)
7g.17339629C=CA1691323907AHRc.1804C= (p.Gln602=)
c.1774C= (p.Gln592=)
c.1759C= (p.Gln587=)
7g.17339629C>GCA366895229AHRc.1804C>G (p.Gln602Glu)
c.1774C>G (p.Gln592Glu)
c.1759C>G (p.Gln587Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.17339629C>TCA366895230AHRc.1804C>T (p.Gln602Ter)
c.1774C>T (p.Gln592Ter)
c.1759C>T (p.Gln587Ter)
 gnomAD v4
7g.17339630A>CCA366895232AHRc.1805A>C (p.Gln602Pro)
c.1775A>C (p.Gln592Pro)
c.1760A>C (p.Gln587Pro)
7g.17339630A>GCA366895233AHRc.1805A>G (p.Gln602Arg)
c.1775A>G (p.Gln592Arg)
c.1760A>G (p.Gln587Arg)
7g.17339630A>TCA366895231AHRc.1805A>T (p.Gln602Leu)
c.1775A>T (p.Gln592Leu)
c.1760A>T (p.Gln587Leu)
7g.17339631A>CCA366895235AHRc.1806A>C (p.Gln602His)
c.1776A>C (p.Gln592His)
c.1761A>C (p.Gln587His)
7g.17339631A>GCA454134181AHRc.1806A>G (p.Gln602=)
c.1776A>G (p.Gln592=)
c.1761A>G (p.Gln587=)
 gnomAD v4
7g.17339631A>TCA366895234AHRc.1806A>T (p.Gln602His)
c.1776A>T (p.Gln592His)
c.1761A>T (p.Gln587His)
7g.17339632C>ACA366895236AHRc.1807C>A (p.Gln603Lys)
c.1777C>A (p.Gln593Lys)
c.1762C>A (p.Gln588Lys)
7g.17339632C>GCA366895237AHRc.1807C>G (p.Gln603Glu)
c.1777C>G (p.Gln593Glu)
c.1762C>G (p.Gln588Glu)
7g.17339632C>TCA366895238AHRc.1807C>T (p.Gln603Ter)
c.1777C>T (p.Gln593Ter)
c.1762C>T (p.Gln588Ter)
 gnomAD v4
7g.17339633A>CCA366895239AHRc.1808A>C (p.Gln603Pro)
c.1778A>C (p.Gln593Pro)
c.1763A>C (p.Gln588Pro)
7g.17339633A>GCA366895240AHRc.1808A>G (p.Gln603Arg)
c.1778A>G (p.Gln593Arg)
c.1763A>G (p.Gln588Arg)
7g.17339633A>TCA366895241AHRc.1808A>T (p.Gln603Leu)
c.1778A>T (p.Gln593Leu)
c.1763A>T (p.Gln588Leu)
7g.17339634G>ACA454134182AHRc.1809G>A (p.Gln603=)
c.1779G>A (p.Gln593=)
c.1764G>A (p.Gln588=)
 gnomAD v4
7g.17339634G>CCA366895242AHRc.1809G>C (p.Gln603His)
c.1779G>C (p.Gln593His)
c.1764G>C (p.Gln588His)
7g.17339634G=CA1691323908AHRc.1809G= (p.Gln603=)
c.1779G= (p.Gln593=)
c.1764G= (p.Gln588=)
7g.17339634G>TCA4172186AHRc.1809G>T (p.Gln603His)
c.1779G>T (p.Gln593His)
c.1764G>T (p.Gln588His)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.17339635T>ACA366895243AHRc.1810T>A (p.Ser604Thr)
c.1780T>A (p.Ser594Thr)
c.1765T>A (p.Ser589Thr)
7g.17339635T>CCA366895244AHRc.1810T>C (p.Ser604Pro)
c.1780T>C (p.Ser594Pro)
c.1765T>C (p.Ser589Pro)
 gnomAD v4
7g.17339635T>GCA366895245AHRc.1810T>G (p.Ser604Ala)
c.1780T>G (p.Ser594Ala)
c.1765T>G (p.Ser589Ala)
7g.17339636C>ACA366895248AHRc.1811C>A (p.Ser604Tyr)
c.1781C>A (p.Ser594Tyr)
c.1766C>A (p.Ser589Tyr)
 dbSNP
7g.17339636C=CA1691323909AHRc.1811C= (p.Ser604=)
c.1781C= (p.Ser594=)
c.1766C= (p.Ser589=)
7g.17339636C>GCA366895247AHRc.1811C>G (p.Ser604Cys)
c.1781C>G (p.Ser594Cys)
c.1766C>G (p.Ser589Cys)
7g.17339636C>TCA366895246AHRc.1811C>T (p.Ser604Phe)
c.1781C>T (p.Ser594Phe)
c.1766C>T (p.Ser589Phe)
 dbSNP gnomAD v2 gnomAD v4
7g.17339637C>ACA454134183AHRc.1812C>A (p.Ser604=)
c.1782C>A (p.Ser594=)
c.1767C>A (p.Ser589=)
7g.17339637C=CA1691323910AHRc.1812C= (p.Ser604=)
c.1782C= (p.Ser594=)
c.1767C= (p.Ser589=)
7g.17339637C>GCA454134184AHRc.1812C>G (p.Ser604=)
c.1782C>G (p.Ser594=)
c.1767C>G (p.Ser589=)
7g.17339637C>TCA454134185AHRc.1812C>T (p.Ser604=)
c.1782C>T (p.Ser594=)
c.1767C>T (p.Ser589=)
 dbSNP
7g.17339638T>ACA366895249AHRc.1813T>A (p.Leu605Met)
c.1783T>A (p.Leu595Met)
c.1768T>A (p.Leu590Met)
7g.17339638T>CCA454134186AHRc.1813T>C (p.Leu605=)
c.1783T>C (p.Leu595=)
c.1768T>C (p.Leu590=)
7g.17339638T>GCA366895250AHRc.1813T>G (p.Leu605Val)
c.1783T>G (p.Leu595Val)
c.1768T>G (p.Leu590Val)
7g.17339639T>ACA366895251AHRc.1814T>A (p.Leu605Ter)
c.1784T>A (p.Leu595Ter)
c.1769T>A (p.Leu590Ter)
7g.17339639T>CCA366895252AHRc.1814T>C (p.Leu605Ser)
c.1784T>C (p.Leu595Ser)
c.1769T>C (p.Leu590Ser)
7g.17339639T>GCA366895253AHRc.1814T>G (p.Leu605Trp)
c.1784T>G (p.Leu595Trp)
c.1769T>G (p.Leu590Trp)
7g.17339640G>ACA454134187AHRc.1815G>A (p.Leu605=)
c.1785G>A (p.Leu595=)
c.1770G>A (p.Leu590=)
7g.17339640G>CCA366895254AHRc.1815G>C (p.Leu605Phe)
c.1785G>C (p.Leu595Phe)
c.1770G>C (p.Leu590Phe)
7g.17339640G>TCA366895255AHRc.1815G>T (p.Leu605Phe)
c.1785G>T (p.Leu595Phe)
c.1770G>T (p.Leu590Phe)
7g.17339641G>ACA366895256AHRc.1816G>A (p.Ala606Thr)
c.1786G>A (p.Ala596Thr)
c.1771G>A (p.Ala591Thr)
7g.17339641G>CCA366895257AHRc.1816G>C (p.Ala606Pro)
c.1786G>C (p.Ala596Pro)
c.1771G>C (p.Ala591Pro)
7g.17339641G>TCA366895258AHRc.1816G>T (p.Ala606Ser)
c.1786G>T (p.Ala596Ser)
c.1771G>T (p.Ala591Ser)
7g.17339642C>ACA366895259AHRc.1817C>A (p.Ala606Asp)
c.1787C>A (p.Ala596Asp)
c.1772C>A (p.Ala591Asp)
7g.17339642C=CA1691323911AHRc.1817C= (p.Ala606=)
c.1787C= (p.Ala596=)
c.1772C= (p.Ala591=)
7g.17339642C>GCA366895260AHRc.1817C>G (p.Ala606Gly)
c.1787C>G (p.Ala596Gly)
c.1772C>G (p.Ala591Gly)
7g.17339642C>TCA154120939AHRc.1817C>T (p.Ala606Val)
c.1787C>T (p.Ala596Val)
c.1772C>T (p.Ala591Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.17339643T>ACA454134188AHRc.1818T>A (p.Ala606=)
c.1788T>A (p.Ala596=)
c.1773T>A (p.Ala591=)
7g.17339643T>CCA454134189AHRc.1818T>C (p.Ala606=)
c.1788T>C (p.Ala596=)
c.1773T>C (p.Ala591=)
7g.17339643T>GCA454134190AHRc.1818T>G (p.Ala606=)
c.1788T>G (p.Ala596=)
c.1773T>G (p.Ala591=)
7g.17339644C>ACA366895261AHRc.1819C>A (p.Leu607Met)
c.1789C>A (p.Leu597Met)
c.1774C>A (p.Leu592Met)
7g.17339644C=CA1691323912AHRc.1819C= (p.Leu607=)
c.1789C= (p.Leu597=)
c.1774C= (p.Leu592=)
7g.17339644C>GCA4172187AHRc.1819C>G (p.Leu607Val)
c.1789C>G (p.Leu597Val)
c.1774C>G (p.Leu592Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.17339644C>TCA454134191AHRc.1819C>T (p.Leu607=)
c.1789C>T (p.Leu597=)
c.1774C>T (p.Leu592=)
7g.17339645T>ACA366895262AHRc.1820T>A (p.Leu607Gln)
c.1790T>A (p.Leu597Gln)
c.1775T>A (p.Leu592Gln)
7g.17339645T>CCA4172188AHRc.1820T>C (p.Leu607Pro)
c.1790T>C (p.Leu597Pro)
c.1775T>C (p.Leu592Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.17339645T>GCA366895263AHRc.1820T>G (p.Leu607Arg)
c.1790T>G (p.Leu597Arg)
c.1775T>G (p.Leu592Arg)
7g.17339645T=CA1691323913AHRc.1820T= (p.Leu607=)
c.1790T= (p.Leu597=)
c.1775T= (p.Leu592=)
7g.17339646G>ACA4172189AHRc.1821G>A (p.Leu607=)
c.1791G>A (p.Leu597=)
c.1776G>A (p.Leu592=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.17339646G>CCA454134192AHRc.1821G>C (p.Leu607=)
c.1791G>C (p.Leu597=)
c.1776G>C (p.Leu592=)
 dbSNP gnomAD v4
7g.17339646G=CA1691323914AHRc.1821G= (p.Leu607=)
c.1791G= (p.Leu597=)
c.1776G= (p.Leu592=)
7g.17339646G>TCA454134193AHRc.1821G>T (p.Leu607=)
c.1791G>T (p.Leu597=)
c.1776G>T (p.Leu592=)
7g.17339647A=CA1691323915AHRc.1822A= (p.Asn608=)
c.1792A= (p.Asn598=)
c.1777A= (p.Asn593=)
7g.17339647A>CCA366895264AHRc.1822A>C (p.Asn608His)
c.1792A>C (p.Asn598His)
c.1777A>C (p.Asn593His)
 dbSNP gnomAD v3 gnomAD v4
7g.17339647A>GCA366895265AHRc.1822A>G (p.Asn608Asp)
c.1792A>G (p.Asn598Asp)
c.1777A>G (p.Asn593Asp)
7g.17339647A>TCA366895266AHRc.1822A>T (p.Asn608Tyr)
c.1792A>T (p.Asn598Tyr)
c.1777A>T (p.Asn593Tyr)
7g.17339648A>CCA366895267AHRc.1823A>C (p.Asn608Thr)
c.1793A>C (p.Asn598Thr)
c.1778A>C (p.Asn593Thr)
7g.17339648A>GCA366895268AHRc.1823A>G (p.Asn608Ser)
c.1793A>G (p.Asn598Ser)
c.1778A>G (p.Asn593Ser)
7g.17339648A>TCA366895269AHRc.1823A>T (p.Asn608Ile)
c.1793A>T (p.Asn598Ile)
c.1778A>T (p.Asn593Ile)
7g.17339649C>ACA366895270AHRc.1824C>A (p.Asn608Lys)
c.1794C>A (p.Asn598Lys)
c.1779C>A (p.Asn593Lys)
7g.17339649C>GCA366895271AHRc.1824C>G (p.Asn608Lys)
c.1794C>G (p.Asn598Lys)
c.1779C>G (p.Asn593Lys)
7g.17339649C>TCA454134194AHRc.1824C>T (p.Asn608=)
c.1794C>T (p.Asn598=)
c.1779C>T (p.Asn593=)
7g.17339650T>ACA366895273AHRc.1825T>A (p.Ser609Thr)
c.1795T>A (p.Ser599Thr)
c.1780T>A (p.Ser594Thr)
7g.17339650T>CCA4172190AHRc.1825T>C (p.Ser609Pro)
c.1795T>C (p.Ser599Pro)
c.1780T>C (p.Ser594Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.17339650T>GCA366895272AHRc.1825T>G (p.Ser609Ala)
c.1795T>G (p.Ser599Ala)
c.1780T>G (p.Ser594Ala)
7g.17339650T=CA1691323916AHRc.1825T= (p.Ser609=)
c.1795T= (p.Ser599=)
c.1780T= (p.Ser594=)
7g.17339651C>ACA366895274AHRc.1826C>A (p.Ser609Ter)
c.1796C>A (p.Ser599Ter)
c.1781C>A (p.Ser594Ter)
7g.17339651C=CA1691323917AHRc.1826C= (p.Ser609=)
c.1796C= (p.Ser599=)
c.1781C= (p.Ser594=)
7g.17339651C>GCA366895275AHRc.1826C>G (p.Ser609Ter)
c.1796C>G (p.Ser599Ter)
c.1781C>G (p.Ser594Ter)
7g.17339651C>TCA366895276AHRc.1826C>T (p.Ser609Leu)
c.1796C>T (p.Ser599Leu)
c.1781C>T (p.Ser594Leu)
7g.17339652A>CCA454134195AHRc.1827A>C (p.Ser609=)
c.1797A>C (p.Ser599=)
c.1782A>C (p.Ser594=)
7g.17339652A>GCA454134196AHRc.1827A>G (p.Ser609=)
c.1797A>G (p.Ser599=)
c.1782A>G (p.Ser594=)
7g.17339652A>TCA454134197AHRc.1827A>T (p.Ser609=)
c.1797A>T (p.Ser599=)
c.1782A>T (p.Ser594=)
 gnomAD v4
7g.17339653dupCA1691323918AHRc.1828dup (p.Ser610LysfsTer?)
c.1798dup (p.Ser600LysfsTer?)
c.1783dup (p.Ser595LysfsTer?)
 dbSNP
7g.17339653A>CCA366895277AHRc.1828A>C (p.Ser610Arg)
c.1798A>C (p.Ser600Arg)
c.1783A>C (p.Ser595Arg)
7g.17339653A>GCA366895278AHRc.1828A>G (p.Ser610Gly)
c.1798A>G (p.Ser600Gly)
c.1783A>G (p.Ser595Gly)
 gnomAD v4
7g.17339653A>TCA366895279AHRc.1828A>T (p.Ser610Cys)
c.1798A>T (p.Ser600Cys)
c.1783A>T (p.Ser595Cys)
7g.17339654G>ACA366895280AHRc.1829G>A (p.Ser610Asn)
c.1799G>A (p.Ser600Asn)
c.1784G>A (p.Ser595Asn)
7g.17339654G>CCA366895282AHRc.1829G>C (p.Ser610Thr)
c.1799G>C (p.Ser600Thr)
c.1784G>C (p.Ser595Thr)
7g.17339654G>TCA366895281AHRc.1829G>T (p.Ser610Ile)
c.1799G>T (p.Ser600Ile)
c.1784G>T (p.Ser595Ile)
7g.17339655C>ACA366895283AHRc.1830C>A (p.Ser610Arg)
c.1800C>A (p.Ser600Arg)
c.1785C>A (p.Ser595Arg)
 dbSNP gnomAD v4
7g.17339655C=CA1691323919AHRc.1830C= (p.Ser610=)
c.1800C= (p.Ser600=)
c.1785C= (p.Ser595=)
7g.17339655C>GCA366895284AHRc.1830C>G (p.Ser610Arg)
c.1800C>G (p.Ser600Arg)
c.1785C>G (p.Ser595Arg)
7g.17339655C>TCA454134198AHRc.1830C>T (p.Ser610=)
c.1800C>T (p.Ser600=)
c.1785C>T (p.Ser595=)
7g.17339656T>ACA366895285AHRc.1831T>A (p.Cys611Ser)
c.1801T>A (p.Cys601Ser)
c.1786T>A (p.Cys596Ser)
7g.17339656T>CCA366895286AHRc.1831T>C (p.Cys611Arg)
c.1801T>C (p.Cys601Arg)
c.1786T>C (p.Cys596Arg)
7g.17339656T>GCA366895287AHRc.1831T>G (p.Cys611Gly)
c.1801T>G (p.Cys601Gly)
c.1786T>G (p.Cys596Gly)
7g.17339657G>ACA366895289AHRc.1832G>A (p.Cys611Tyr)
c.1802G>A (p.Cys601Tyr)
c.1787G>A (p.Cys596Tyr)
 gnomAD v4
7g.17339657G>CCA366895290AHRc.1832G>C (p.Cys611Ser)
c.1802G>C (p.Cys601Ser)
c.1787G>C (p.Cys596Ser)
7g.17339657G>TCA366895288AHRc.1832G>T (p.Cys611Phe)
c.1802G>T (p.Cys601Phe)
c.1787G>T (p.Cys596Phe)
 gnomAD v4
7g.17339658T>ACA366895292AHRc.1833T>A (p.Cys611Ter)
c.1803T>A (p.Cys601Ter)
c.1788T>A (p.Cys596Ter)
7g.17339658T>CCA454134199AHRc.1833T>C (p.Cys611=)
c.1803T>C (p.Cys601=)
c.1788T>C (p.Cys596=)
7g.17339658T>GCA366895291AHRc.1833T>G (p.Cys611Trp)
c.1803T>G (p.Cys601Trp)
c.1788T>G (p.Cys596Trp)
7g.17339659A=CA1691323920AHRc.1834A= (p.Met612=)
c.1804A= (p.Met602=)
c.1789A= (p.Met597=)
7g.17339659A>CCA366895294AHRc.1834A>C (p.Met612Leu)
c.1804A>C (p.Met602Leu)
c.1789A>C (p.Met597Leu)
7g.17339659A>GCA4172191AHRc.1834A>G (p.Met612Val)
c.1804A>G (p.Met602Val)
c.1789A>G (p.Met597Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.17339659A>TCA366895293AHRc.1834A>T (p.Met612Leu)
c.1804A>T (p.Met602Leu)
c.1789A>T (p.Met597Leu)
7g.17339660T>ACA366895295AHRc.1835T>A (p.Met612Lys)
c.1805T>A (p.Met602Lys)
c.1790T>A (p.Met597Lys)
7g.17339660T>CCA366895296AHRc.1835T>C (p.Met612Thr)
c.1805T>C (p.Met602Thr)
c.1790T>C (p.Met597Thr)
7g.17339660T>GCA366895297AHRc.1835T>G (p.Met612Arg)
c.1805T>G (p.Met602Arg)
c.1790T>G (p.Met597Arg)
7g.17339661G>ACA366895300AHRc.1836G>A (p.Met612Ile)
c.1806G>A (p.Met602Ile)
c.1791G>A (p.Met597Ile)
7g.17339661G>CCA366895299AHRc.1836G>C (p.Met612Ile)
c.1806G>C (p.Met602Ile)
c.1791G>C (p.Met597Ile)
7g.17339661G>TCA366895298AHRc.1836G>T (p.Met612Ile)
c.1806G>T (p.Met602Ile)
c.1791G>T (p.Met597Ile)
7g.17339662G>ACA366895301AHRc.1837G>A (p.Val613Ile)
c.1807G>A (p.Val603Ile)
c.1792G>A (p.Val598Ile)
 ClinVar gnomAD v4
7g.17339662G>CCA366895302AHRc.1837G>C (p.Val613Leu)
c.1807G>C (p.Val603Leu)
c.1792G>C (p.Val598Leu)
7g.17339662G>TCA366895303AHRc.1837G>T (p.Val613Leu)
c.1807G>T (p.Val603Leu)
c.1792G>T (p.Val598Leu)
 COSMIC
7g.17339663T>ACA366895304AHRc.1838T>A (p.Val613Glu)
c.1808T>A (p.Val603Glu)
c.1793T>A (p.Val598Glu)
7g.17339663T>CCA366895305AHRc.1838T>C (p.Val613Ala)
c.1808T>C (p.Val603Ala)
c.1793T>C (p.Val598Ala)
7g.17339663T>GCA366895306AHRc.1838T>G (p.Val613Gly)
c.1808T>G (p.Val603Gly)
c.1793T>G (p.Val598Gly)
7g.17339664A>CCA454134200AHRc.1839A>C (p.Val613=)
c.1809A>C (p.Val603=)
c.1794A>C (p.Val598=)
7g.17339664A>GCA454134201AHRc.1839A>G (p.Val613=)
c.1809A>G (p.Val603=)
c.1794A>G (p.Val598=)
 gnomAD v4
7g.17339664A>TCA454134202AHRc.1839A>T (p.Val613=)
c.1809A>T (p.Val603=)
c.1794A>T (p.Val598=)
7g.17339665C>ACA366895307AHRc.1840C>A (p.Gln614Lys)
c.1810C>A (p.Gln604Lys)
c.1795C>A (p.Gln599Lys)
7g.17339665C>GCA366895309AHRc.1840C>G (p.Gln614Glu)
c.1810C>G (p.Gln604Glu)
c.1795C>G (p.Gln599Glu)
7g.17339665C>TCA366895308AHRc.1840C>T (p.Gln614Ter)
c.1810C>T (p.Gln604Ter)
c.1795C>T (p.Gln599Ter)
7g.17339666A>CCA366895310AHRc.1841A>C (p.Gln614Pro)
c.1811A>C (p.Gln604Pro)
c.1796A>C (p.Gln599Pro)
 ClinVar
7g.17339666A>GCA366895311AHRc.1841A>G (p.Gln614Arg)
c.1811A>G (p.Gln604Arg)
c.1796A>G (p.Gln599Arg)
 gnomAD v4
7g.17339666A>TCA366895312AHRc.1841A>T (p.Gln614Leu)
c.1811A>T (p.Gln604Leu)
c.1796A>T (p.Gln599Leu)
7g.17339667G>ACA454134203AHRc.1842G>A (p.Gln614=)
c.1812G>A (p.Gln604=)
c.1797G>A (p.Gln599=)
 dbSNP
7g.17339667G>CCA366895313AHRc.1842G>C (p.Gln614His)
c.1812G>C (p.Gln604His)
c.1797G>C (p.Gln599His)
7g.17339667G=CA1691323921AHRc.1842G= (p.Gln614=)
c.1812G= (p.Gln604=)
c.1797G= (p.Gln599=)
7g.17339667G>TCA366895314AHRc.1842G>T (p.Gln614His)
c.1812G>T (p.Gln604His)
c.1797G>T (p.Gln599His)
7g.17339668G>ACA366895315AHRc.1843G>A (p.Glu615Lys)
c.1813G>A (p.Glu605Lys)
c.1798G>A (p.Glu600Lys)
7g.17339668G>CCA366895316AHRc.1843G>C (p.Glu615Gln)
c.1813G>C (p.Glu605Gln)
c.1798G>C (p.Glu600Gln)
 dbSNP
7g.17339668G=CA1691323922AHRc.1843G= (p.Glu615=)
c.1813G= (p.Glu605=)
c.1798G= (p.Glu600=)
7g.17339668G>TCA366895317AHRc.1843G>T (p.Glu615Ter)
c.1813G>T (p.Glu605Ter)
c.1798G>T (p.Glu600Ter)
 COSMIC
7g.17339669A>CCA366895318AHRc.1844A>C (p.Glu615Ala)
c.1814A>C (p.Glu605Ala)
c.1799A>C (p.Glu600Ala)
7g.17339669A>GCA366895319AHRc.1844A>G (p.Glu615Gly)
c.1814A>G (p.Glu605Gly)
c.1799A>G (p.Glu600Gly)
7g.17339669A>TCA366895320AHRc.1844A>T (p.Glu615Val)
c.1814A>T (p.Glu605Val)
c.1799A>T (p.Glu600Val)
7g.17339670A=CA1691323923AHRc.1845A= (p.Glu615=)
c.1815A= (p.Glu605=)
c.1800A= (p.Glu600=)
7g.17339670A>CCA366895322AHRc.1845A>C (p.Glu615Asp)
c.1815A>C (p.Glu605Asp)
c.1800A>C (p.Glu600Asp)
7g.17339670A>GCA454134204AHRc.1845A>G (p.Glu615=)
c.1815A>G (p.Glu605=)
c.1800A>G (p.Glu600=)
 dbSNP gnomAD v4
7g.17339670A>TCA366895321AHRc.1845A>T (p.Glu615Asp)
c.1815A>T (p.Glu605Asp)
c.1800A>T (p.Glu600Asp)
7g.17339671C>ACA366895323AHRc.1846C>A (p.His616Asn)
c.1816C>A (p.His606Asn)
c.1801C>A (p.His601Asn)
7g.17339671C=CA1691323924AHRc.1846C= (p.His616=)
c.1816C= (p.His606=)
c.1801C= (p.His601=)
7g.17339671C>GCA366895324AHRc.1846C>G (p.His616Asp)
c.1816C>G (p.His606Asp)
c.1801C>G (p.His601Asp)
7g.17339671C>TCA366895325AHRc.1846C>T (p.His616Tyr)
c.1816C>T (p.His606Tyr)
c.1801C>T (p.His601Tyr)
 dbSNP gnomAD v2 gnomAD v4
7g.17339672A=CA1691323925AHRc.1847A= (p.His616=)
c.1817A= (p.His606=)
c.1802A= (p.His601=)
7g.17339672A>CCA366895326AHRc.1847A>C (p.His616Pro)
c.1817A>C (p.His606Pro)
c.1802A>C (p.His601Pro)
 dbSNP
7g.17339672A>GCA366895327AHRc.1847A>G (p.His616Arg)
c.1817A>G (p.His606Arg)
c.1802A>G (p.His601Arg)
7g.17339672A>TCA366895328AHRc.1847A>T (p.His616Leu)
c.1817A>T (p.His606Leu)
c.1802A>T (p.His601Leu)
7g.17339673C>ACA366895329AHRc.1848C>A (p.His616Gln)
c.1818C>A (p.His606Gln)
c.1803C>A (p.His601Gln)
7g.17339673C>GCA366895330AHRc.1848C>G (p.His616Gln)
c.1818C>G (p.His606Gln)
c.1803C>G (p.His601Gln)
7g.17339673C>TCA454134205AHRc.1848C>T (p.His616=)
c.1818C>T (p.His606=)
c.1803C>T (p.His601=)
7g.17339674C>ACA366895331AHRc.1849C>A (p.Leu617Ile)
c.1819C>A (p.Leu607Ile)
c.1804C>A (p.Leu602Ile)
7g.17339674C=CA1691323926AHRc.1849C= (p.Leu617=)
c.1819C= (p.Leu607=)
c.1804C= (p.Leu602=)
7g.17339674C>GCA366895332AHRc.1849C>G (p.Leu617Val)
c.1819C>G (p.Leu607Val)
c.1804C>G (p.Leu602Val)
 dbSNP
7g.17339674C>TCA454134206AHRc.1849C>T (p.Leu617=)
c.1819C>T (p.Leu607=)
c.1804C>T (p.Leu602=)
7g.17339675T>ACA366895333AHRc.1850T>A (p.Leu617Gln)
c.1820T>A (p.Leu607Gln)
c.1805T>A (p.Leu602Gln)
7g.17339675T>CCA366895334AHRc.1850T>C (p.Leu617Pro)
c.1820T>C (p.Leu607Pro)
c.1805T>C (p.Leu602Pro)
 dbSNP gnomAD v4
7g.17339675T>GCA366895335AHRc.1850T>G (p.Leu617Arg)
c.1820T>G (p.Leu607Arg)
c.1805T>G (p.Leu602Arg)
7g.17339675T=CA1691323927AHRc.1850T= (p.Leu617=)
c.1820T= (p.Leu607=)
c.1805T= (p.Leu602=)
7g.17339676A>CCA454134209AHRc.1851A>C (p.Leu617=)
c.1821A>C (p.Leu607=)
c.1806A>C (p.Leu602=)
7g.17339676A>GCA454134208AHRc.1851A>G (p.Leu617=)
c.1821A>G (p.Leu607=)
c.1806A>G (p.Leu602=)
7g.17339676A>TCA454134207AHRc.1851A>T (p.Leu617=)
c.1821A>T (p.Leu607=)
c.1806A>T (p.Leu602=)
7g.17339677C>ACA366895337AHRc.1852C>A (p.His618Asn)
c.1822C>A (p.His608Asn)
c.1807C>A (p.His603Asn)
7g.17339677C=CA1691323928AHRc.1852C= (p.His618=)
c.1822C= (p.His608=)
c.1807C= (p.His603=)
7g.17339677C>GCA366895336AHRc.1852C>G (p.His618Asp)
c.1822C>G (p.His608Asp)
c.1807C>G (p.His603Asp)
7g.17339677C>TCA4172192AHRc.1852C>T (p.His618Tyr)
c.1822C>T (p.His608Tyr)
c.1807C>T (p.His603Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched