Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.107634602C>ACA365171226SOBPc.1758C>A (p.Asp586Glu)
c.1911C>A (p.Asp637Glu)
c.1815C>A (p.Asp605Glu)
c.1797C>A (p.Asp599Glu)
c.1170C>A (p.Asp390Glu)
c.981C>A (p.Asp327Glu)
c.1311C>A (p.Asp437Glu)
6g.107634602C>GCA365171227SOBPc.1758C>G (p.Asp586Glu)
c.1911C>G (p.Asp637Glu)
c.1815C>G (p.Asp605Glu)
c.1797C>G (p.Asp599Glu)
c.1170C>G (p.Asp390Glu)
c.981C>G (p.Asp327Glu)
c.1311C>G (p.Asp437Glu)
6g.107634602C>TCA451581987SOBPc.1758C>T (p.Asp586=)
c.1911C>T (p.Asp637=)
c.1815C>T (p.Asp605=)
c.1797C>T (p.Asp599=)
c.1170C>T (p.Asp390=)
c.981C>T (p.Asp327=)
c.1311C>T (p.Asp437=)
gnomAD v4
6g.107634603T>ACA365171228SOBPc.1759T>A (p.Ser587Thr)
c.1912T>A (p.Ser638Thr)
c.1816T>A (p.Ser606Thr)
c.1798T>A (p.Ser600Thr)
c.1171T>A (p.Ser391Thr)
c.982T>A (p.Ser328Thr)
c.1312T>A (p.Ser438Thr)
6g.107634603T>CCA365171229SOBPc.1759T>C (p.Ser587Pro)
c.1912T>C (p.Ser638Pro)
c.1816T>C (p.Ser606Pro)
c.1798T>C (p.Ser600Pro)
c.1171T>C (p.Ser391Pro)
c.982T>C (p.Ser328Pro)
c.1312T>C (p.Ser438Pro)
6g.107634603T>GCA365171230SOBPc.1759T>G (p.Ser587Ala)
c.1912T>G (p.Ser638Ala)
c.1816T>G (p.Ser606Ala)
c.1798T>G (p.Ser600Ala)
c.1171T>G (p.Ser391Ala)
c.982T>G (p.Ser328Ala)
c.1312T>G (p.Ser438Ala)
6g.107634604C>ACA365171231SOBPc.1760C>A (p.Ser587Tyr)
c.1913C>A (p.Ser638Tyr)
c.1817C>A (p.Ser606Tyr)
c.1799C>A (p.Ser600Tyr)
c.1172C>A (p.Ser391Tyr)
c.983C>A (p.Ser328Tyr)
c.1313C>A (p.Ser438Tyr)
gnomAD v4
6g.107634604C>GCA365171232SOBPc.1760C>G (p.Ser587Cys)
c.1913C>G (p.Ser638Cys)
c.1817C>G (p.Ser606Cys)
c.1799C>G (p.Ser600Cys)
c.1172C>G (p.Ser391Cys)
c.983C>G (p.Ser328Cys)
c.1313C>G (p.Ser438Cys)
6g.107634604C>TCA365171233SOBPc.1760C>T (p.Ser587Phe)
c.1913C>T (p.Ser638Phe)
c.1817C>T (p.Ser606Phe)
c.1799C>T (p.Ser600Phe)
c.1172C>T (p.Ser391Phe)
c.983C>T (p.Ser328Phe)
c.1313C>T (p.Ser438Phe)
ClinVar
6g.107634605C>ACA451581994SOBPc.1761C>A (p.Ser587=)
c.1914C>A (p.Ser638=)
c.1818C>A (p.Ser606=)
c.1800C>A (p.Ser600=)
c.1173C>A (p.Ser391=)
c.984C>A (p.Ser328=)
c.1314C>A (p.Ser438=)
6g.107634605C=CA1653938932SOBPc.1761C= (p.Ser587=)
c.1914C= (p.Ser638=)
c.1818C= (p.Ser606=)
c.1800C= (p.Ser600=)
c.1173C= (p.Ser391=)
c.984C= (p.Ser328=)
c.1314C= (p.Ser438=)
6g.107634605C>GCA451581995SOBPc.1761C>G (p.Ser587=)
c.1914C>G (p.Ser638=)
c.1818C>G (p.Ser606=)
c.1800C>G (p.Ser600=)
c.1173C>G (p.Ser391=)
c.984C>G (p.Ser328=)
c.1314C>G (p.Ser438=)
6g.107634605C>TCA3946581SOBPc.1761C>T (p.Ser587=)
c.1914C>T (p.Ser638=)
c.1818C>T (p.Ser606=)
c.1800C>T (p.Ser600=)
c.1173C>T (p.Ser391=)
c.984C>T (p.Ser328=)
c.1314C>T (p.Ser438=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.107634606A>CCA365171235SOBPc.1762A>C (p.Lys588Gln)
c.1915A>C (p.Lys639Gln)
c.1819A>C (p.Lys607Gln)
c.1801A>C (p.Lys601Gln)
c.1174A>C (p.Lys392Gln)
c.985A>C (p.Lys329Gln)
c.1315A>C (p.Lys439Gln)
6g.107634606A>GCA365171236SOBPc.1762A>G (p.Lys588Glu)
c.1915A>G (p.Lys639Glu)
c.1819A>G (p.Lys607Glu)
c.1801A>G (p.Lys601Glu)
c.1174A>G (p.Lys392Glu)
c.985A>G (p.Lys329Glu)
c.1315A>G (p.Lys439Glu)
6g.107634606A>TCA365171234SOBPc.1762A>T (p.Lys588Ter)
c.1915A>T (p.Lys639Ter)
c.1819A>T (p.Lys607Ter)
c.1801A>T (p.Lys601Ter)
c.1174A>T (p.Lys392Ter)
c.985A>T (p.Lys329Ter)
c.1315A>T (p.Lys439Ter)
dbSNP
6g.107634607A=CA1653938936SOBPc.1763A= (p.Lys588=)
c.1916A= (p.Lys639=)
c.1820A= (p.Lys607=)
c.1802A= (p.Lys601=)
c.1175A= (p.Lys392=)
c.986A= (p.Lys329=)
c.1316A= (p.Lys439=)
6g.107634607A>CCA365171238SOBPc.1763A>C (p.Lys588Thr)
c.1916A>C (p.Lys639Thr)
c.1820A>C (p.Lys607Thr)
c.1802A>C (p.Lys601Thr)
c.1175A>C (p.Lys392Thr)
c.986A>C (p.Lys329Thr)
c.1316A>C (p.Lys439Thr)
6g.107634607A>GCA3946582SOBPc.1763A>G (p.Lys588Arg)
c.1916A>G (p.Lys639Arg)
c.1820A>G (p.Lys607Arg)
c.1802A>G (p.Lys601Arg)
c.1175A>G (p.Lys392Arg)
c.986A>G (p.Lys329Arg)
c.1316A>G (p.Lys439Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.107634607A>TCA365171237SOBPc.1763A>T (p.Lys588Met)
c.1916A>T (p.Lys639Met)
c.1820A>T (p.Lys607Met)
c.1802A>T (p.Lys601Met)
c.1175A>T (p.Lys392Met)
c.986A>T (p.Lys329Met)
c.1316A>T (p.Lys439Met)
6g.107634608G>ACA451581997SOBPc.1764G>A (p.Lys588=)
c.1917G>A (p.Lys639=)
c.1821G>A (p.Lys607=)
c.1803G>A (p.Lys601=)
c.1176G>A (p.Lys392=)
c.987G>A (p.Lys329=)
c.1317G>A (p.Lys439=)
6g.107634608G>CCA365171239SOBPc.1764G>C (p.Lys588Asn)
c.1917G>C (p.Lys639Asn)
c.1821G>C (p.Lys607Asn)
c.1803G>C (p.Lys601Asn)
c.1176G>C (p.Lys392Asn)
c.987G>C (p.Lys329Asn)
c.1317G>C (p.Lys439Asn)
6g.107634608G>TCA365171240SOBPc.1764G>T (p.Lys588Asn)
c.1917G>T (p.Lys639Asn)
c.1821G>T (p.Lys607Asn)
c.1803G>T (p.Lys601Asn)
c.1176G>T (p.Lys392Asn)
c.987G>T (p.Lys329Asn)
c.1317G>T (p.Lys439Asn)
gnomAD v4
6g.107634609C>ACA365171241SOBPc.1765C>A (p.Gln589Lys)
c.1918C>A (p.Gln640Lys)
c.1822C>A (p.Gln608Lys)
c.1804C>A (p.Gln602Lys)
c.1177C>A (p.Gln393Lys)
c.988C>A (p.Gln330Lys)
c.1318C>A (p.Gln440Lys)
gnomAD v4
6g.107634609C>GCA365171242SOBPc.1765C>G (p.Gln589Glu)
c.1918C>G (p.Gln640Glu)
c.1822C>G (p.Gln608Glu)
c.1804C>G (p.Gln602Glu)
c.1177C>G (p.Gln393Glu)
c.988C>G (p.Gln330Glu)
c.1318C>G (p.Gln440Glu)
gnomAD v4
6g.107634609C>TCA365171243SOBPc.1765C>T (p.Gln589Ter)
c.1918C>T (p.Gln640Ter)
c.1822C>T (p.Gln608Ter)
c.1804C>T (p.Gln602Ter)
c.1177C>T (p.Gln393Ter)
c.988C>T (p.Gln330Ter)
c.1318C>T (p.Gln440Ter)
6g.107634610A=CA1653938939SOBPc.1766A= (p.Gln589=)
c.1919A= (p.Gln640=)
c.1823A= (p.Gln608=)
c.1805A= (p.Gln602=)
c.1178A= (p.Gln393=)
c.989A= (p.Gln330=)
c.1319A= (p.Gln440=)
6g.107634610A>CCA365171244SOBPc.1766A>C (p.Gln589Pro)
c.1919A>C (p.Gln640Pro)
c.1823A>C (p.Gln608Pro)
c.1805A>C (p.Gln602Pro)
c.1178A>C (p.Gln393Pro)
c.989A>C (p.Gln330Pro)
c.1319A>C (p.Gln440Pro)
6g.107634610A>GCA365171245SOBPc.1766A>G (p.Gln589Arg)
c.1919A>G (p.Gln640Arg)
c.1823A>G (p.Gln608Arg)
c.1805A>G (p.Gln602Arg)
c.1178A>G (p.Gln393Arg)
c.989A>G (p.Gln330Arg)
c.1319A>G (p.Gln440Arg)
dbSNP gnomAD v3 gnomAD v4
6g.107634610A>TCA365171246SOBPc.1766A>T (p.Gln589Leu)
c.1919A>T (p.Gln640Leu)
c.1823A>T (p.Gln608Leu)
c.1805A>T (p.Gln602Leu)
c.1178A>T (p.Gln393Leu)
c.989A>T (p.Gln330Leu)
c.1319A>T (p.Gln440Leu)
6g.107634611G>ACA451582001SOBPc.1767G>A (p.Gln589=)
c.1920G>A (p.Gln640=)
c.1824G>A (p.Gln608=)
c.1806G>A (p.Gln602=)
c.1179G>A (p.Gln393=)
c.990G>A (p.Gln330=)
c.1320G>A (p.Gln440=)
6g.107634611G>CCA365171247SOBPc.1767G>C (p.Gln589His)
c.1920G>C (p.Gln640His)
c.1824G>C (p.Gln608His)
c.1806G>C (p.Gln602His)
c.1179G>C (p.Gln393His)
c.990G>C (p.Gln330His)
c.1320G>C (p.Gln440His)
6g.107634611G>TCA365171248SOBPc.1767G>T (p.Gln589His)
c.1920G>T (p.Gln640His)
c.1824G>T (p.Gln608His)
c.1806G>T (p.Gln602His)
c.1179G>T (p.Gln393His)
c.990G>T (p.Gln330His)
c.1320G>T (p.Gln440His)
6g.107634612G>ACA365171251SOBPc.1768G>A (p.Gly590Ser)
c.1921G>A (p.Gly641Ser)
c.1825G>A (p.Gly609Ser)
c.1807G>A (p.Gly603Ser)
c.1180G>A (p.Gly394Ser)
c.991G>A (p.Gly331Ser)
c.1321G>A (p.Gly441Ser)
dbSNP gnomAD v2 gnomAD v4
6g.107634612G>CCA365171250SOBPc.1768G>C (p.Gly590Arg)
c.1921G>C (p.Gly641Arg)
c.1825G>C (p.Gly609Arg)
c.1807G>C (p.Gly603Arg)
c.1180G>C (p.Gly394Arg)
c.991G>C (p.Gly331Arg)
c.1321G>C (p.Gly441Arg)
6g.107634612G=CA1653938941SOBPc.1768G= (p.Gly590=)
c.1921G= (p.Gly641=)
c.1825G= (p.Gly609=)
c.1807G= (p.Gly603=)
c.1180G= (p.Gly394=)
c.991G= (p.Gly331=)
c.1321G= (p.Gly441=)
6g.107634612G>TCA365171249SOBPc.1768G>T (p.Gly590Cys)
c.1921G>T (p.Gly641Cys)
c.1825G>T (p.Gly609Cys)
c.1807G>T (p.Gly603Cys)
c.1180G>T (p.Gly394Cys)
c.991G>T (p.Gly331Cys)
c.1321G>T (p.Gly441Cys)
6g.107634613G>ACA365171252SOBPc.1769G>A (p.Gly590Asp)
c.1922G>A (p.Gly641Asp)
c.1826G>A (p.Gly609Asp)
c.1808G>A (p.Gly603Asp)
c.1181G>A (p.Gly394Asp)
c.992G>A (p.Gly331Asp)
c.1322G>A (p.Gly441Asp)
dbSNP gnomAD v2
6g.107634613G>CCA365171253SOBPc.1769G>C (p.Gly590Ala)
c.1922G>C (p.Gly641Ala)
c.1826G>C (p.Gly609Ala)
c.1808G>C (p.Gly603Ala)
c.1181G>C (p.Gly394Ala)
c.992G>C (p.Gly331Ala)
c.1322G>C (p.Gly441Ala)
6g.107634613G=CA1653938943SOBPc.1769G= (p.Gly590=)
c.1922G= (p.Gly641=)
c.1826G= (p.Gly609=)
c.1808G= (p.Gly603=)
c.1181G= (p.Gly394=)
c.992G= (p.Gly331=)
c.1322G= (p.Gly441=)
6g.107634613G>TCA365171254SOBPc.1769G>T (p.Gly590Val)
c.1922G>T (p.Gly641Val)
c.1826G>T (p.Gly609Val)
c.1808G>T (p.Gly603Val)
c.1181G>T (p.Gly394Val)
c.992G>T (p.Gly331Val)
c.1322G>T (p.Gly441Val)
gnomAD v4
6g.107634614C>ACA451582005SOBPc.1770C>A (p.Gly590=)
c.1923C>A (p.Gly641=)
c.1827C>A (p.Gly609=)
c.1809C>A (p.Gly603=)
c.1182C>A (p.Gly394=)
c.993C>A (p.Gly331=)
c.1323C>A (p.Gly441=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.107634614C=CA1653938946SOBPc.1770C= (p.Gly590=)
c.1923C= (p.Gly641=)
c.1827C= (p.Gly609=)
c.1809C= (p.Gly603=)
c.1182C= (p.Gly394=)
c.993C= (p.Gly331=)
c.1323C= (p.Gly441=)
6g.107634614C>GCA145013651SOBPc.1770C>G (p.Gly590=)
c.1923C>G (p.Gly641=)
c.1827C>G (p.Gly609=)
c.1809C>G (p.Gly603=)
c.1182C>G (p.Gly394=)
c.993C>G (p.Gly331=)
c.1323C>G (p.Gly441=)
dbSNP gnomAD v4
6g.107634614C>TCA451582006SOBPc.1770C>T (p.Gly590=)
c.1923C>T (p.Gly641=)
c.1827C>T (p.Gly609=)
c.1809C>T (p.Gly603=)
c.1182C>T (p.Gly394=)
c.993C>T (p.Gly331=)
c.1323C>T (p.Gly441=)
dbSNP gnomAD v4
6g.107634615T>ACA365171255SOBPc.1771T>A (p.Ser591Thr)
c.1924T>A (p.Ser642Thr)
c.1828T>A (p.Ser610Thr)
c.1810T>A (p.Ser604Thr)
c.1183T>A (p.Ser395Thr)
c.994T>A (p.Ser332Thr)
c.1324T>A (p.Ser442Thr)
6g.107634615T>CCA365171256SOBPc.1771T>C (p.Ser591Pro)
c.1924T>C (p.Ser642Pro)
c.1828T>C (p.Ser610Pro)
c.1810T>C (p.Ser604Pro)
c.1183T>C (p.Ser395Pro)
c.994T>C (p.Ser332Pro)
c.1324T>C (p.Ser442Pro)
gnomAD v4
6g.107634615T>GCA365171257SOBPc.1771T>G (p.Ser591Ala)
c.1924T>G (p.Ser642Ala)
c.1828T>G (p.Ser610Ala)
c.1810T>G (p.Ser604Ala)
c.1183T>G (p.Ser395Ala)
c.994T>G (p.Ser332Ala)
c.1324T>G (p.Ser442Ala)
6g.107634616C>ACA365171258SOBPc.1772C>A (p.Ser591Ter)
c.1925C>A (p.Ser642Ter)
c.1829C>A (p.Ser610Ter)
c.1811C>A (p.Ser604Ter)
c.1184C>A (p.Ser395Ter)
c.995C>A (p.Ser332Ter)
c.1325C>A (p.Ser442Ter)
gnomAD v4
6g.107634616C=CA1653938949SOBPc.1772C= (p.Ser591=)
c.1925C= (p.Ser642=)
c.1829C= (p.Ser610=)
c.1811C= (p.Ser604=)
c.1184C= (p.Ser395=)
c.995C= (p.Ser332=)
c.1325C= (p.Ser442=)
6g.107634616C>GCA365171259SOBPc.1772C>G (p.Ser591Trp)
c.1925C>G (p.Ser642Trp)
c.1829C>G (p.Ser610Trp)
c.1811C>G (p.Ser604Trp)
c.1184C>G (p.Ser395Trp)
c.995C>G (p.Ser332Trp)
c.1325C>G (p.Ser442Trp)
6g.107634616C>TCA365171260SOBPc.1772C>T (p.Ser591Leu)
c.1925C>T (p.Ser642Leu)
c.1829C>T (p.Ser610Leu)
c.1811C>T (p.Ser604Leu)
c.1184C>T (p.Ser395Leu)
c.995C>T (p.Ser332Leu)
c.1325C>T (p.Ser442Leu)
dbSNP gnomAD v2 gnomAD v4
6g.107634617G>ACA3946583SOBPc.1773G>A (p.Ser591=)
c.1926G>A (p.Ser642=)
c.1830G>A (p.Ser610=)
c.1812G>A (p.Ser604=)
c.1185G>A (p.Ser395=)
c.996G>A (p.Ser332=)
c.1326G>A (p.Ser442=)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
6g.107634617G>CCA451582009SOBPc.1773G>C (p.Ser591=)
c.1926G>C (p.Ser642=)
c.1830G>C (p.Ser610=)
c.1812G>C (p.Ser604=)
c.1185G>C (p.Ser395=)
c.996G>C (p.Ser332=)
c.1326G>C (p.Ser442=)
6g.107634617G=CA1653938951SOBPc.1773G= (p.Ser591=)
c.1926G= (p.Ser642=)
c.1830G= (p.Ser610=)
c.1812G= (p.Ser604=)
c.1185G= (p.Ser395=)
c.996G= (p.Ser332=)
c.1326G= (p.Ser442=)
6g.107634617G>TCA451582010SOBPc.1773G>T (p.Ser591=)
c.1926G>T (p.Ser642=)
c.1830G>T (p.Ser610=)
c.1812G>T (p.Ser604=)
c.1185G>T (p.Ser395=)
c.996G>T (p.Ser332=)
c.1326G>T (p.Ser442=)
gnomAD v4
6g.107634618T>ACA365171261SOBPc.1774T>A (p.Ser592Thr)
c.1927T>A (p.Ser643Thr)
c.1831T>A (p.Ser611Thr)
c.1813T>A (p.Ser605Thr)
c.1186T>A (p.Ser396Thr)
c.997T>A (p.Ser333Thr)
c.1327T>A (p.Ser443Thr)
6g.107634618T>CCA365171262SOBPc.1774T>C (p.Ser592Pro)
c.1927T>C (p.Ser643Pro)
c.1831T>C (p.Ser611Pro)
c.1813T>C (p.Ser605Pro)
c.1186T>C (p.Ser396Pro)
c.997T>C (p.Ser333Pro)
c.1327T>C (p.Ser443Pro)
gnomAD v4
6g.107634618T>GCA365171263SOBPc.1774T>G (p.Ser592Ala)
c.1927T>G (p.Ser643Ala)
c.1831T>G (p.Ser611Ala)
c.1813T>G (p.Ser605Ala)
c.1186T>G (p.Ser396Ala)
c.997T>G (p.Ser333Ala)
c.1327T>G (p.Ser443Ala)
6g.107634619C>ACA365171266SOBPc.1775C>A (p.Ser592Tyr)
c.1928C>A (p.Ser643Tyr)
c.1832C>A (p.Ser611Tyr)
c.1814C>A (p.Ser605Tyr)
c.1187C>A (p.Ser396Tyr)
c.998C>A (p.Ser333Tyr)
c.1328C>A (p.Ser443Tyr)
gnomAD v4
6g.107634619C>GCA365171265SOBPc.1775C>G (p.Ser592Cys)
c.1928C>G (p.Ser643Cys)
c.1832C>G (p.Ser611Cys)
c.1814C>G (p.Ser605Cys)
c.1187C>G (p.Ser396Cys)
c.998C>G (p.Ser333Cys)
c.1328C>G (p.Ser443Cys)
gnomAD v4
6g.107634619C>TCA365171264SOBPc.1775C>T (p.Ser592Phe)
c.1928C>T (p.Ser643Phe)
c.1832C>T (p.Ser611Phe)
c.1814C>T (p.Ser605Phe)
c.1187C>T (p.Ser396Phe)
c.998C>T (p.Ser333Phe)
c.1328C>T (p.Ser443Phe)
dbSNP
6g.107634620C>ACA451582015SOBPc.1776C>A (p.Ser592=)
c.1929C>A (p.Ser643=)
c.1833C>A (p.Ser611=)
c.1815C>A (p.Ser605=)
c.1188C>A (p.Ser396=)
c.999C>A (p.Ser333=)
c.1329C>A (p.Ser443=)
dbSNP gnomAD v2 gnomAD v4
6g.107634620C=CA1653938954SOBPc.1776C= (p.Ser592=)
c.1929C= (p.Ser643=)
c.1833C= (p.Ser611=)
c.1815C= (p.Ser605=)
c.1188C= (p.Ser396=)
c.999C= (p.Ser333=)
c.1329C= (p.Ser443=)
6g.107634620C>GCA451582016SOBPc.1776C>G (p.Ser592=)
c.1929C>G (p.Ser643=)
c.1833C>G (p.Ser611=)
c.1815C>G (p.Ser605=)
c.1188C>G (p.Ser396=)
c.999C>G (p.Ser333=)
c.1329C>G (p.Ser443=)
dbSNP gnomAD v2 gnomAD v4
6g.107634620C>TCA451582018SOBPc.1776C>T (p.Ser592=)
c.1929C>T (p.Ser643=)
c.1833C>T (p.Ser611=)
c.1815C>T (p.Ser605=)
c.1188C>T (p.Ser396=)
c.999C>T (p.Ser333=)
c.1329C>T (p.Ser443=)
dbSNP
6g.107634621A>CCA365171269SOBPc.1777A>C (p.Lys593Gln)
c.1930A>C (p.Lys644Gln)
c.1834A>C (p.Lys612Gln)
c.1816A>C (p.Lys606Gln)
c.1189A>C (p.Lys397Gln)
c.1000A>C (p.Lys334Gln)
c.1330A>C (p.Lys444Gln)
6g.107634621A>GCA365171267SOBPc.1777A>G (p.Lys593Glu)
c.1930A>G (p.Lys644Glu)
c.1834A>G (p.Lys612Glu)
c.1816A>G (p.Lys606Glu)
c.1189A>G (p.Lys397Glu)
c.1000A>G (p.Lys334Glu)
c.1330A>G (p.Lys444Glu)
gnomAD v4
6g.107634621A>TCA365171268SOBPc.1777A>T (p.Lys593Ter)
c.1930A>T (p.Lys644Ter)
c.1834A>T (p.Lys612Ter)
c.1816A>T (p.Lys606Ter)
c.1189A>T (p.Lys397Ter)
c.1000A>T (p.Lys334Ter)
c.1330A>T (p.Lys444Ter)
6g.107634622A=CA1653938957SOBPc.1778A= (p.Lys593=)
c.1931A= (p.Lys644=)
c.1835A= (p.Lys612=)
c.1817A= (p.Lys606=)
c.1190A= (p.Lys397=)
c.1001A= (p.Lys334=)
c.1331A= (p.Lys444=)
6g.107634622A>CCA365171270SOBPc.1778A>C (p.Lys593Thr)
c.1931A>C (p.Lys644Thr)
c.1835A>C (p.Lys612Thr)
c.1817A>C (p.Lys606Thr)
c.1190A>C (p.Lys397Thr)
c.1001A>C (p.Lys334Thr)
c.1331A>C (p.Lys444Thr)
6g.107634622A>GCA365171271SOBPc.1778A>G (p.Lys593Arg)
c.1931A>G (p.Lys644Arg)
c.1835A>G (p.Lys612Arg)
c.1817A>G (p.Lys606Arg)
c.1190A>G (p.Lys397Arg)
c.1001A>G (p.Lys334Arg)
c.1331A>G (p.Lys444Arg)
dbSNP gnomAD v4
6g.107634622A>TCA365171272SOBPc.1778A>T (p.Lys593Met)
c.1931A>T (p.Lys644Met)
c.1835A>T (p.Lys612Met)
c.1817A>T (p.Lys606Met)
c.1190A>T (p.Lys397Met)
c.1001A>T (p.Lys334Met)
c.1331A>T (p.Lys444Met)
dbSNP gnomAD v2 gnomAD v4
6g.107634623G>ACA451582023SOBPc.1779G>A (p.Lys593=)
c.1932G>A (p.Lys644=)
c.1836G>A (p.Lys612=)
c.1818G>A (p.Lys606=)
c.1191G>A (p.Lys397=)
c.1002G>A (p.Lys334=)
c.1332G>A (p.Lys444=)
gnomAD v4
6g.107634623G>CCA365171273SOBPc.1779G>C (p.Lys593Asn)
c.1932G>C (p.Lys644Asn)
c.1836G>C (p.Lys612Asn)
c.1818G>C (p.Lys606Asn)
c.1191G>C (p.Lys397Asn)
c.1002G>C (p.Lys334Asn)
c.1332G>C (p.Lys444Asn)
dbSNP gnomAD v2 gnomAD v4
6g.107634623G=CA1653938958SOBPc.1779G= (p.Lys593=)
c.1932G= (p.Lys644=)
c.1836G= (p.Lys612=)
c.1818G= (p.Lys606=)
c.1191G= (p.Lys397=)
c.1002G= (p.Lys334=)
c.1332G= (p.Lys444=)
6g.107634623G>TCA365171274SOBPc.1779G>T (p.Lys593Asn)
c.1932G>T (p.Lys644Asn)
c.1836G>T (p.Lys612Asn)
c.1818G>T (p.Lys606Asn)
c.1191G>T (p.Lys397Asn)
c.1002G>T (p.Lys334Asn)
c.1332G>T (p.Lys444Asn)
gnomAD v4
6g.107634624T>ACA365171275SOBPc.1780T>A (p.Ser594Thr)
c.1933T>A (p.Ser645Thr)
c.1837T>A (p.Ser613Thr)
c.1819T>A (p.Ser607Thr)
c.1192T>A (p.Ser398Thr)
c.1003T>A (p.Ser335Thr)
c.1333T>A (p.Ser445Thr)
6g.107634624T>CCA365171276SOBPc.1780T>C (p.Ser594Pro)
c.1933T>C (p.Ser645Pro)
c.1837T>C (p.Ser613Pro)
c.1819T>C (p.Ser607Pro)
c.1192T>C (p.Ser398Pro)
c.1003T>C (p.Ser335Pro)
c.1333T>C (p.Ser445Pro)
gnomAD v4
6g.107634624T>GCA365171277SOBPc.1780T>G (p.Ser594Ala)
c.1933T>G (p.Ser645Ala)
c.1837T>G (p.Ser613Ala)
c.1819T>G (p.Ser607Ala)
c.1192T>G (p.Ser398Ala)
c.1003T>G (p.Ser335Ala)
c.1333T>G (p.Ser445Ala)
6g.107634625C>ACA365171278SOBPc.1781C>A (p.Ser594Tyr)
c.1934C>A (p.Ser645Tyr)
c.1838C>A (p.Ser613Tyr)
c.1820C>A (p.Ser607Tyr)
c.1193C>A (p.Ser398Tyr)
c.1004C>A (p.Ser335Tyr)
c.1334C>A (p.Ser445Tyr)
dbSNP gnomAD v2 gnomAD v4
6g.107634625C=CA1653938959SOBPc.1781C= (p.Ser594=)
c.1934C= (p.Ser645=)
c.1838C= (p.Ser613=)
c.1820C= (p.Ser607=)
c.1193C= (p.Ser398=)
c.1004C= (p.Ser335=)
c.1334C= (p.Ser445=)
6g.107634625C>GCA365171279SOBPc.1781C>G (p.Ser594Cys)
c.1934C>G (p.Ser645Cys)
c.1838C>G (p.Ser613Cys)
c.1820C>G (p.Ser607Cys)
c.1193C>G (p.Ser398Cys)
c.1004C>G (p.Ser335Cys)
c.1334C>G (p.Ser445Cys)
6g.107634625C>TCA365171280SOBPc.1781C>T (p.Ser594Phe)
c.1934C>T (p.Ser645Phe)
c.1838C>T (p.Ser613Phe)
c.1820C>T (p.Ser607Phe)
c.1193C>T (p.Ser398Phe)
c.1004C>T (p.Ser335Phe)
c.1334C>T (p.Ser445Phe)
dbSNP gnomAD v3 gnomAD v4
6g.107634626C>ACA451582027SOBPc.1782C>A (p.Ser594=)
c.1935C>A (p.Ser645=)
c.1839C>A (p.Ser613=)
c.1821C>A (p.Ser607=)
c.1194C>A (p.Ser398=)
c.1005C>A (p.Ser335=)
c.1335C>A (p.Ser445=)
dbSNP gnomAD v4
6g.107634626C=CA1653938961SOBPc.1782C= (p.Ser594=)
c.1935C= (p.Ser645=)
c.1839C= (p.Ser613=)
c.1821C= (p.Ser607=)
c.1194C= (p.Ser398=)
c.1005C= (p.Ser335=)
c.1335C= (p.Ser445=)
6g.107634626C>GCA3946585SOBPc.1782C>G (p.Ser594=)
c.1935C>G (p.Ser645=)
c.1839C>G (p.Ser613=)
c.1821C>G (p.Ser607=)
c.1194C>G (p.Ser398=)
c.1005C>G (p.Ser335=)
c.1335C>G (p.Ser445=)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.107634626C>TCA3946584SOBPc.1782C>T (p.Ser594=)
c.1935C>T (p.Ser645=)
c.1839C>T (p.Ser613=)
c.1821C>T (p.Ser607=)
c.1194C>T (p.Ser398=)
c.1005C>T (p.Ser335=)
c.1335C>T (p.Ser445=)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.107634627G>ACA365171281SOBPc.1783G>A (p.Ala595Thr)
c.1936G>A (p.Ala646Thr)
c.1840G>A (p.Ala614Thr)
c.1822G>A (p.Ala608Thr)
c.1195G>A (p.Ala399Thr)
c.1006G>A (p.Ala336Thr)
c.1336G>A (p.Ala446Thr)
gnomAD v4
6g.107634627G>CCA365171282SOBPc.1783G>C (p.Ala595Pro)
c.1936G>C (p.Ala646Pro)
c.1840G>C (p.Ala614Pro)
c.1822G>C (p.Ala608Pro)
c.1195G>C (p.Ala399Pro)
c.1006G>C (p.Ala336Pro)
c.1336G>C (p.Ala446Pro)
dbSNP gnomAD v2 gnomAD v4
6g.107634627G=CA1653938965SOBPc.1783G= (p.Ala595=)
c.1936G= (p.Ala646=)
c.1840G= (p.Ala614=)
c.1822G= (p.Ala608=)
c.1195G= (p.Ala399=)
c.1006G= (p.Ala336=)
c.1336G= (p.Ala446=)
6g.107634627G>TCA365171283SOBPc.1783G>T (p.Ala595Ser)
c.1936G>T (p.Ala646Ser)
c.1840G>T (p.Ala614Ser)
c.1822G>T (p.Ala608Ser)
c.1195G>T (p.Ala399Ser)
c.1006G>T (p.Ala336Ser)
c.1336G>T (p.Ala446Ser)
dbSNP gnomAD v3 gnomAD v4
6g.107634628C>ACA365171284SOBPc.1784C>A (p.Ala595Glu)
c.1937C>A (p.Ala646Glu)
c.1841C>A (p.Ala614Glu)
c.1823C>A (p.Ala608Glu)
c.1196C>A (p.Ala399Glu)
c.1007C>A (p.Ala336Glu)
c.1337C>A (p.Ala446Glu)
6g.107634628C=CA1653938970SOBPc.1784C= (p.Ala595=)
c.1937C= (p.Ala646=)
c.1841C= (p.Ala614=)
c.1823C= (p.Ala608=)
c.1196C= (p.Ala399=)
c.1007C= (p.Ala336=)
c.1337C= (p.Ala446=)
6g.107634628C>GCA365171285SOBPc.1784C>G (p.Ala595Gly)
c.1937C>G (p.Ala646Gly)
c.1841C>G (p.Ala614Gly)
c.1823C>G (p.Ala608Gly)
c.1196C>G (p.Ala399Gly)
c.1007C>G (p.Ala336Gly)
c.1337C>G (p.Ala446Gly)
6g.107634628C>TCA3946586SOBPc.1784C>T (p.Ala595Val)
c.1937C>T (p.Ala646Val)
c.1841C>T (p.Ala614Val)
c.1823C>T (p.Ala608Val)
c.1196C>T (p.Ala399Val)
c.1007C>T (p.Ala336Val)
c.1337C>T (p.Ala446Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.107634629G>ACA451582033SOBPc.1785G>A (p.Ala595=)
c.1938G>A (p.Ala646=)
c.1842G>A (p.Ala614=)
c.1824G>A (p.Ala608=)
c.1197G>A (p.Ala399=)
c.1008G>A (p.Ala336=)
c.1338G>A (p.Ala446=)
gnomAD v4
6g.107634629G>CCA451582034SOBPc.1785G>C (p.Ala595=)
c.1938G>C (p.Ala646=)
c.1842G>C (p.Ala614=)
c.1824G>C (p.Ala608=)
c.1197G>C (p.Ala399=)
c.1008G>C (p.Ala336=)
c.1338G>C (p.Ala446=)
6g.107634629G>TCA451582032SOBPc.1785G>T (p.Ala595=)
c.1938G>T (p.Ala646=)
c.1842G>T (p.Ala614=)
c.1824G>T (p.Ala608=)
c.1197G>T (p.Ala399=)
c.1008G>T (p.Ala336=)
c.1338G>T (p.Ala446=)
dbSNP
6g.107634630G>ACA365171286SOBPc.1786G>A (p.Asp596Asn)
c.1939G>A (p.Asp647Asn)
c.1843G>A (p.Asp615Asn)
c.1825G>A (p.Asp609Asn)
c.1198G>A (p.Asp400Asn)
c.1009G>A (p.Asp337Asn)
c.1339G>A (p.Asp447Asn)
6g.107634630G>CCA365171287SOBPc.1786G>C (p.Asp596His)
c.1939G>C (p.Asp647His)
c.1843G>C (p.Asp615His)
c.1825G>C (p.Asp609His)
c.1198G>C (p.Asp400His)
c.1009G>C (p.Asp337His)
c.1339G>C (p.Asp447His)
6g.107634630G>TCA365171288SOBPc.1786G>T (p.Asp596Tyr)
c.1939G>T (p.Asp647Tyr)
c.1843G>T (p.Asp615Tyr)
c.1825G>T (p.Asp609Tyr)
c.1198G>T (p.Asp400Tyr)
c.1009G>T (p.Asp337Tyr)
c.1339G>T (p.Asp447Tyr)
gnomAD v4
6g.107634631A=CA1653938973SOBPc.1787A= (p.Asp596=)
c.1940A= (p.Asp647=)
c.1844A= (p.Asp615=)
c.1826A= (p.Asp609=)
c.1199A= (p.Asp400=)
c.1010A= (p.Asp337=)
c.1340A= (p.Asp447=)
6g.107634631A>CCA365171289SOBPc.1787A>C (p.Asp596Ala)
c.1940A>C (p.Asp647Ala)
c.1844A>C (p.Asp615Ala)
c.1826A>C (p.Asp609Ala)
c.1199A>C (p.Asp400Ala)
c.1010A>C (p.Asp337Ala)
c.1340A>C (p.Asp447Ala)
6g.107634631A>GCA365171290SOBPc.1787A>G (p.Asp596Gly)
c.1940A>G (p.Asp647Gly)
c.1844A>G (p.Asp615Gly)
c.1826A>G (p.Asp609Gly)
c.1199A>G (p.Asp400Gly)
c.1010A>G (p.Asp337Gly)
c.1340A>G (p.Asp447Gly)
6g.107634631A>TCA365171291SOBPc.1787A>T (p.Asp596Val)
c.1940A>T (p.Asp647Val)
c.1844A>T (p.Asp615Val)
c.1826A>T (p.Asp609Val)
c.1199A>T (p.Asp400Val)
c.1010A>T (p.Asp337Val)
c.1340A>T (p.Asp447Val)
dbSNP gnomAD v3 gnomAD v4
6g.107634632C>ACA365171292SOBPc.1788C>A (p.Asp596Glu)
c.1941C>A (p.Asp647Glu)
c.1845C>A (p.Asp615Glu)
c.1827C>A (p.Asp609Glu)
c.1200C>A (p.Asp400Glu)
c.1011C>A (p.Asp337Glu)
c.1341C>A (p.Asp447Glu)
gnomAD v4
6g.107634632C>GCA365171293SOBPc.1788C>G (p.Asp596Glu)
c.1941C>G (p.Asp647Glu)
c.1845C>G (p.Asp615Glu)
c.1827C>G (p.Asp609Glu)
c.1200C>G (p.Asp400Glu)
c.1011C>G (p.Asp337Glu)
c.1341C>G (p.Asp447Glu)
ClinVar
6g.107634632C>TCA451582039SOBPc.1788C>T (p.Asp596=)
c.1941C>T (p.Asp647=)
c.1845C>T (p.Asp615=)
c.1827C>T (p.Asp609=)
c.1200C>T (p.Asp400=)
c.1011C>T (p.Asp337=)
c.1341C>T (p.Asp447=)
gnomAD v4
6g.107634633T>ACA365171295SOBPc.1789T>A (p.Ser597Thr)
c.1942T>A (p.Ser648Thr)
c.1846T>A (p.Ser616Thr)
c.1828T>A (p.Ser610Thr)
c.1201T>A (p.Ser401Thr)
c.1012T>A (p.Ser338Thr)
c.1342T>A (p.Ser448Thr)
6g.107634633T>CCA365171296SOBPc.1789T>C (p.Ser597Pro)
c.1942T>C (p.Ser648Pro)
c.1846T>C (p.Ser616Pro)
c.1828T>C (p.Ser610Pro)
c.1201T>C (p.Ser401Pro)
c.1012T>C (p.Ser338Pro)
c.1342T>C (p.Ser448Pro)
6g.107634633T>GCA365171294SOBPc.1789T>G (p.Ser597Ala)
c.1942T>G (p.Ser648Ala)
c.1846T>G (p.Ser616Ala)
c.1828T>G (p.Ser610Ala)
c.1201T>G (p.Ser401Ala)
c.1012T>G (p.Ser338Ala)
c.1342T>G (p.Ser448Ala)
6g.107634634C>ACA365171297SOBPc.1790C>A (p.Ser597Ter)
c.1943C>A (p.Ser648Ter)
c.1847C>A (p.Ser616Ter)
c.1829C>A (p.Ser610Ter)
c.1202C>A (p.Ser401Ter)
c.1013C>A (p.Ser338Ter)
c.1343C>A (p.Ser448Ter)
gnomAD v4
6g.107634634C>GCA365171299SOBPc.1790C>G (p.Ser597Trp)
c.1943C>G (p.Ser648Trp)
c.1847C>G (p.Ser616Trp)
c.1829C>G (p.Ser610Trp)
c.1202C>G (p.Ser401Trp)
c.1013C>G (p.Ser338Trp)
c.1343C>G (p.Ser448Trp)
6g.107634634C>TCA365171298SOBPc.1790C>T (p.Ser597Leu)
c.1943C>T (p.Ser648Leu)
c.1847C>T (p.Ser616Leu)
c.1829C>T (p.Ser610Leu)
c.1202C>T (p.Ser401Leu)
c.1013C>T (p.Ser338Leu)
c.1343C>T (p.Ser448Leu)
dbSNP gnomAD v4
6g.107634635G>ACA451582040SOBPc.1791G>A (p.Ser597=)
c.1944G>A (p.Ser648=)
c.1848G>A (p.Ser616=)
c.1830G>A (p.Ser610=)
c.1203G>A (p.Ser401=)
c.1014G>A (p.Ser338=)
c.1344G>A (p.Ser448=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.107634635G>CCA451582044SOBPc.1791G>C (p.Ser597=)
c.1944G>C (p.Ser648=)
c.1848G>C (p.Ser616=)
c.1830G>C (p.Ser610=)
c.1203G>C (p.Ser401=)
c.1014G>C (p.Ser338=)
c.1344G>C (p.Ser448=)
gnomAD v4
6g.107634635G=CA1653938975SOBPc.1791G= (p.Ser597=)
c.1944G= (p.Ser648=)
c.1848G= (p.Ser616=)
c.1830G= (p.Ser610=)
c.1203G= (p.Ser401=)
c.1014G= (p.Ser338=)
c.1344G= (p.Ser448=)
6g.107634635G>TCA451582042SOBPc.1791G>T (p.Ser597=)
c.1944G>T (p.Ser648=)
c.1848G>T (p.Ser616=)
c.1830G>T (p.Ser610=)
c.1203G>T (p.Ser401=)
c.1014G>T (p.Ser338=)
c.1344G>T (p.Ser448=)
gnomAD v4
6g.107634636C>ACA365171300SOBPc.1792C>A (p.Pro598Thr)
c.1945C>A (p.Pro649Thr)
c.1849C>A (p.Pro617Thr)
c.1831C>A (p.Pro611Thr)
c.1204C>A (p.Pro402Thr)
c.1015C>A (p.Pro339Thr)
c.1345C>A (p.Pro449Thr)
dbSNP gnomAD v4
6g.107634636C=CA1653938978SOBPc.1792C= (p.Pro598=)
c.1945C= (p.Pro649=)
c.1849C= (p.Pro617=)
c.1831C= (p.Pro611=)
c.1204C= (p.Pro402=)
c.1015C= (p.Pro339=)
c.1345C= (p.Pro449=)
6g.107634636C>GCA365171301SOBPc.1792C>G (p.Pro598Ala)
c.1945C>G (p.Pro649Ala)
c.1849C>G (p.Pro617Ala)
c.1831C>G (p.Pro611Ala)
c.1204C>G (p.Pro402Ala)
c.1015C>G (p.Pro339Ala)
c.1345C>G (p.Pro449Ala)
dbSNP
6g.107634636C>TCA365171302SOBPc.1792C>T (p.Pro598Ser)
c.1945C>T (p.Pro649Ser)
c.1849C>T (p.Pro617Ser)
c.1831C>T (p.Pro611Ser)
c.1204C>T (p.Pro402Ser)
c.1015C>T (p.Pro339Ser)
c.1345C>T (p.Pro449Ser)
dbSNP gnomAD v4
6g.107634641dupCA569564370SOBPc.1797dup (p.Gly600ArgfsTer?)
c.1950dup (p.Gly651ArgfsTer?)
c.1854dup (p.Gly619ArgfsTer?)
c.1836dup (p.Gly613ArgfsTer?)
c.1209dup (p.Gly404ArgfsTer?)
c.1020dup (p.Gly341ArgfsTer?)
c.1350dup (p.Gly451ArgfsTer?)
gnomAD v2 gnomAD v4
6g.107634641delCA569564369SOBPc.1797del (p.Gly600AlafsTer7)
c.1950del (p.Gly651AlafsTer7)
c.1854del (p.Gly619AlafsTer7)
c.1836del (p.Gly613AlafsTer7)
c.1209del (p.Gly404AlafsTer7)
c.1020del (p.Gly341AlafsTer7)
c.1350del (p.Gly451AlafsTer7)
gnomAD v2 gnomAD v4
6g.107634637C>ACA365171303SOBPc.1793C>A (p.Pro598His)
c.1946C>A (p.Pro649His)
c.1850C>A (p.Pro617His)
c.1832C>A (p.Pro611His)
c.1205C>A (p.Pro402His)
c.1016C>A (p.Pro339His)
c.1346C>A (p.Pro449His)
gnomAD v4
6g.107634637C=CA1653938983SOBPc.1793C= (p.Pro598=)
c.1946C= (p.Pro649=)
c.1850C= (p.Pro617=)
c.1832C= (p.Pro611=)
c.1205C= (p.Pro402=)
c.1016C= (p.Pro339=)
c.1346C= (p.Pro449=)
6g.107634637C>GCA365171304SOBPc.1793C>G (p.Pro598Arg)
c.1946C>G (p.Pro649Arg)
c.1850C>G (p.Pro617Arg)
c.1832C>G (p.Pro611Arg)
c.1205C>G (p.Pro402Arg)
c.1016C>G (p.Pro339Arg)
c.1346C>G (p.Pro449Arg)
6g.107634637C>TCA365171305SOBPc.1793C>T (p.Pro598Leu)
c.1946C>T (p.Pro649Leu)
c.1850C>T (p.Pro617Leu)
c.1832C>T (p.Pro611Leu)
c.1205C>T (p.Pro402Leu)
c.1016C>T (p.Pro339Leu)
c.1346C>T (p.Pro449Leu)
dbSNP gnomAD v4
6g.107634638C>ACA451581327SOBPc.1794C>A (p.Pro598=)
c.1947C>A (p.Pro649=)
c.1851C>A (p.Pro617=)
c.1833C>A (p.Pro611=)
c.1206C>A (p.Pro402=)
c.1017C>A (p.Pro339=)
c.1347C>A (p.Pro449=)
gnomAD v4
6g.107634638C=CA1653938987SOBPc.1794C= (p.Pro598=)
c.1947C= (p.Pro649=)
c.1851C= (p.Pro617=)
c.1833C= (p.Pro611=)
c.1206C= (p.Pro402=)
c.1017C= (p.Pro339=)
c.1347C= (p.Pro449=)
6g.107634638C>GCA3946587SOBPc.1794C>G (p.Pro598=)
c.1947C>G (p.Pro649=)
c.1851C>G (p.Pro617=)
c.1833C>G (p.Pro611=)
c.1206C>G (p.Pro402=)
c.1017C>G (p.Pro339=)
c.1347C>G (p.Pro449=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.107634638C>TCA451581331SOBPc.1794C>T (p.Pro598=)
c.1947C>T (p.Pro649=)
c.1851C>T (p.Pro617=)
c.1833C>T (p.Pro611=)
c.1206C>T (p.Pro402=)
c.1017C>T (p.Pro339=)
c.1347C>T (p.Pro449=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.107634639C>ACA365171306SOBPc.1795C>A (p.Pro599Thr)
c.1948C>A (p.Pro650Thr)
c.1852C>A (p.Pro618Thr)
c.1834C>A (p.Pro612Thr)
c.1207C>A (p.Pro403Thr)
c.1018C>A (p.Pro340Thr)
c.1348C>A (p.Pro450Thr)
gnomAD v4
6g.107634639C>GCA365171307SOBPc.1795C>G (p.Pro599Ala)
c.1948C>G (p.Pro650Ala)
c.1852C>G (p.Pro618Ala)
c.1834C>G (p.Pro612Ala)
c.1207C>G (p.Pro403Ala)
c.1018C>G (p.Pro340Ala)
c.1348C>G (p.Pro450Ala)
gnomAD v4
6g.107634639C>TCA365171308SOBPc.1795C>T (p.Pro599Ser)
c.1948C>T (p.Pro650Ser)
c.1852C>T (p.Pro618Ser)
c.1834C>T (p.Pro612Ser)
c.1207C>T (p.Pro403Ser)
c.1018C>T (p.Pro340Ser)
c.1348C>T (p.Pro450Ser)
6g.107634640C>ACA365171309SOBPc.1796C>A (p.Pro599His)
c.1949C>A (p.Pro650His)
c.1853C>A (p.Pro618His)
c.1835C>A (p.Pro612His)
c.1208C>A (p.Pro403His)
c.1019C>A (p.Pro340His)
c.1349C>A (p.Pro450His)
gnomAD v4
6g.107634640C=CA1653938995SOBPc.1796C= (p.Pro599=)
c.1949C= (p.Pro650=)
c.1853C= (p.Pro618=)
c.1835C= (p.Pro612=)
c.1208C= (p.Pro403=)
c.1019C= (p.Pro340=)
c.1349C= (p.Pro450=)
6g.107634640C>GCA3946588SOBPc.1796C>G (p.Pro599Arg)
c.1949C>G (p.Pro650Arg)
c.1853C>G (p.Pro618Arg)
c.1835C>G (p.Pro612Arg)
c.1208C>G (p.Pro403Arg)
c.1019C>G (p.Pro340Arg)
c.1349C>G (p.Pro450Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.107634640C>TCA365171310SOBPc.1796C>T (p.Pro599Leu)
c.1949C>T (p.Pro650Leu)
c.1853C>T (p.Pro618Leu)
c.1835C>T (p.Pro612Leu)
c.1208C>T (p.Pro403Leu)
c.1019C>T (p.Pro340Leu)
c.1349C>T (p.Pro450Leu)
gnomAD v4
6g.107634641C>ACA451581339SOBPc.1797C>A (p.Pro599=)
c.1950C>A (p.Pro650=)
c.1854C>A (p.Pro618=)
c.1836C>A (p.Pro612=)
c.1209C>A (p.Pro403=)
c.1020C>A (p.Pro340=)
c.1350C>A (p.Pro450=)
gnomAD v4
6g.107634641C=CA1653938999SOBPc.1797C= (p.Pro599=)
c.1950C= (p.Pro650=)
c.1854C= (p.Pro618=)
c.1836C= (p.Pro612=)
c.1209C= (p.Pro403=)
c.1020C= (p.Pro340=)
c.1350C= (p.Pro450=)
6g.107634641C>GCA3946590SOBPc.1797C>G (p.Pro599=)
c.1950C>G (p.Pro650=)
c.1854C>G (p.Pro618=)
c.1836C>G (p.Pro612=)
c.1209C>G (p.Pro403=)
c.1020C>G (p.Pro340=)
c.1350C>G (p.Pro450=)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.107634641C>TCA3946589SOBPc.1797C>T (p.Pro599=)
c.1950C>T (p.Pro650=)
c.1854C>T (p.Pro618=)
c.1836C>T (p.Pro612=)
c.1209C>T (p.Pro403=)
c.1020C>T (p.Pro340=)
c.1350C>T (p.Pro450=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.107634642G>ACA365171311SOBPc.1798G>A (p.Gly600Ser)
c.1951G>A (p.Gly651Ser)
c.1855G>A (p.Gly619Ser)
c.1837G>A (p.Gly613Ser)
c.1210G>A (p.Gly404Ser)
c.1021G>A (p.Gly341Ser)
c.1351G>A (p.Gly451Ser)
dbSNP gnomAD v2 gnomAD v4
6g.107634642G>CCA365171312SOBPc.1798G>C (p.Gly600Arg)
c.1951G>C (p.Gly651Arg)
c.1855G>C (p.Gly619Arg)
c.1837G>C (p.Gly613Arg)
c.1210G>C (p.Gly404Arg)
c.1021G>C (p.Gly341Arg)
c.1351G>C (p.Gly451Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.107634642G=CA1653939005SOBPc.1798G= (p.Gly600=)
c.1951G= (p.Gly651=)
c.1855G= (p.Gly619=)
c.1837G= (p.Gly613=)
c.1210G= (p.Gly404=)
c.1021G= (p.Gly341=)
c.1351G= (p.Gly451=)
6g.107634642G>TCA365171313SOBPc.1798G>T (p.Gly600Cys)
c.1951G>T (p.Gly651Cys)
c.1855G>T (p.Gly619Cys)
c.1837G>T (p.Gly613Cys)
c.1210G>T (p.Gly404Cys)
c.1021G>T (p.Gly341Cys)
c.1351G>T (p.Gly451Cys)
gnomAD v4
6g.107634643G>ACA365171314SOBPc.1799G>A (p.Gly600Asp)
c.1952G>A (p.Gly651Asp)
c.1856G>A (p.Gly619Asp)
c.1838G>A (p.Gly613Asp)
c.1211G>A (p.Gly404Asp)
c.1022G>A (p.Gly341Asp)
c.1352G>A (p.Gly451Asp)
6g.107634643G>CCA365171315SOBPc.1799G>C (p.Gly600Ala)
c.1952G>C (p.Gly651Ala)
c.1856G>C (p.Gly619Ala)
c.1838G>C (p.Gly613Ala)
c.1211G>C (p.Gly404Ala)
c.1022G>C (p.Gly341Ala)
c.1352G>C (p.Gly451Ala)
dbSNP gnomAD v4
6g.107634643G=CA1653939008SOBPc.1799G= (p.Gly600=)
c.1952G= (p.Gly651=)
c.1856G= (p.Gly619=)
c.1838G= (p.Gly613=)
c.1211G= (p.Gly404=)
c.1022G= (p.Gly341=)
c.1352G= (p.Gly451=)
6g.107634643G>TCA365171316SOBPc.1799G>T (p.Gly600Val)
c.1952G>T (p.Gly651Val)
c.1856G>T (p.Gly619Val)
c.1838G>T (p.Gly613Val)
c.1211G>T (p.Gly404Val)
c.1022G>T (p.Gly341Val)
c.1352G>T (p.Gly451Val)
gnomAD v4
6g.107634644C>ACA451581340SOBPc.1800C>A (p.Gly600=)
c.1953C>A (p.Gly651=)
c.1857C>A (p.Gly619=)
c.1839C>A (p.Gly613=)
c.1212C>A (p.Gly404=)
c.1023C>A (p.Gly341=)
c.1353C>A (p.Gly451=)
gnomAD v4
6g.107634644C>GCA451581342SOBPc.1800C>G (p.Gly600=)
c.1953C>G (p.Gly651=)
c.1857C>G (p.Gly619=)
c.1839C>G (p.Gly613=)
c.1212C>G (p.Gly404=)
c.1023C>G (p.Gly341=)
c.1353C>G (p.Gly451=)
6g.107634644C>TCA451581343SOBPc.1800C>T (p.Gly600=)
c.1953C>T (p.Gly651=)
c.1857C>T (p.Gly619=)
c.1839C>T (p.Gly613=)
c.1212C>T (p.Gly404=)
c.1023C>T (p.Gly341=)
c.1353C>T (p.Gly451=)
dbSNP
6g.107634645T>ACA365171317SOBPc.1801T>A (p.Cys601Ser)
c.1954T>A (p.Cys652Ser)
c.1858T>A (p.Cys620Ser)
c.1840T>A (p.Cys614Ser)
c.1213T>A (p.Cys405Ser)
c.1024T>A (p.Cys342Ser)
c.1354T>A (p.Cys452Ser)
6g.107634645T>CCA365171318SOBPc.1801T>C (p.Cys601Arg)
c.1954T>C (p.Cys652Arg)
c.1858T>C (p.Cys620Arg)
c.1840T>C (p.Cys614Arg)
c.1213T>C (p.Cys405Arg)
c.1024T>C (p.Cys342Arg)
c.1354T>C (p.Cys452Arg)
gnomAD v4
6g.107634645T>GCA365171319SOBPc.1801T>G (p.Cys601Gly)
c.1954T>G (p.Cys652Gly)
c.1858T>G (p.Cys620Gly)
c.1840T>G (p.Cys614Gly)
c.1213T>G (p.Cys405Gly)
c.1024T>G (p.Cys342Gly)
c.1354T>G (p.Cys452Gly)
gnomAD v4
6g.107634646G>ACA365171320SOBPc.1802G>A (p.Cys601Tyr)
c.1955G>A (p.Cys652Tyr)
c.1859G>A (p.Cys620Tyr)
c.1841G>A (p.Cys614Tyr)
c.1214G>A (p.Cys405Tyr)
c.1025G>A (p.Cys342Tyr)
c.1355G>A (p.Cys452Tyr)
gnomAD v4
6g.107634646G>CCA3946591SOBPc.1802G>C (p.Cys601Ser)
c.1955G>C (p.Cys652Ser)
c.1859G>C (p.Cys620Ser)
c.1841G>C (p.Cys614Ser)
c.1214G>C (p.Cys405Ser)
c.1025G>C (p.Cys342Ser)
c.1355G>C (p.Cys452Ser)
dbSNP ExAC gnomAD v2
6g.107634646G=CA1653939012SOBPc.1802G= (p.Cys601=)
c.1955G= (p.Cys652=)
c.1859G= (p.Cys620=)
c.1841G= (p.Cys614=)
c.1214G= (p.Cys405=)
c.1025G= (p.Cys342=)
c.1355G= (p.Cys452=)
6g.107634646G>TCA365171321SOBPc.1802G>T (p.Cys601Phe)
c.1955G>T (p.Cys652Phe)
c.1859G>T (p.Cys620Phe)
c.1841G>T (p.Cys614Phe)
c.1214G>T (p.Cys405Phe)
c.1025G>T (p.Cys342Phe)
c.1355G>T (p.Cys452Phe)
gnomAD v4
6g.107634647C>ACA365171322SOBPc.1803C>A (p.Cys601Ter)
c.1956C>A (p.Cys652Ter)
c.1860C>A (p.Cys620Ter)
c.1842C>A (p.Cys614Ter)
c.1215C>A (p.Cys405Ter)
c.1026C>A (p.Cys342Ter)
c.1356C>A (p.Cys452Ter)
6g.107634647C=CA1653939015SOBPc.1803C= (p.Cys601=)
c.1956C= (p.Cys652=)
c.1860C= (p.Cys620=)
c.1842C= (p.Cys614=)
c.1215C= (p.Cys405=)
c.1026C= (p.Cys342=)
c.1356C= (p.Cys452=)
6g.107634647C>GCA365171323SOBPc.1803C>G (p.Cys601Trp)
c.1956C>G (p.Cys652Trp)
c.1860C>G (p.Cys620Trp)
c.1842C>G (p.Cys614Trp)
c.1215C>G (p.Cys405Trp)
c.1026C>G (p.Cys342Trp)
c.1356C>G (p.Cys452Trp)
gnomAD v4
6g.107634647C>TCA451581354SOBPc.1803C>T (p.Cys601=)
c.1956C>T (p.Cys652=)
c.1860C>T (p.Cys620=)
c.1842C>T (p.Cys614=)
c.1215C>T (p.Cys405=)
c.1026C>T (p.Cys342=)
c.1356C>T (p.Cys452=)
dbSNP gnomAD v2 gnomAD v4
6g.107634648T>ACA365171324SOBPc.1804T>A (p.Ser602Thr)
c.1957T>A (p.Ser653Thr)
c.1861T>A (p.Ser621Thr)
c.1843T>A (p.Ser615Thr)
c.1216T>A (p.Ser406Thr)
c.1027T>A (p.Ser343Thr)
c.1357T>A (p.Ser453Thr)
dbSNP gnomAD v3 gnomAD v4
6g.107634648T>CCA3946592SOBPc.1804T>C (p.Ser602Pro)
c.1957T>C (p.Ser653Pro)
c.1861T>C (p.Ser621Pro)
c.1843T>C (p.Ser615Pro)
c.1216T>C (p.Ser406Pro)
c.1027T>C (p.Ser343Pro)
c.1357T>C (p.Ser453Pro)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.107634648T>GCA365171325SOBPc.1804T>G (p.Ser602Ala)
c.1957T>G (p.Ser653Ala)
c.1861T>G (p.Ser621Ala)
c.1843T>G (p.Ser615Ala)
c.1216T>G (p.Ser406Ala)
c.1027T>G (p.Ser343Ala)
c.1357T>G (p.Ser453Ala)
6g.107634648T=CA1653939021SOBPc.1804T= (p.Ser602=)
c.1957T= (p.Ser653=)
c.1861T= (p.Ser621=)
c.1843T= (p.Ser615=)
c.1216T= (p.Ser406=)
c.1027T= (p.Ser343=)
c.1357T= (p.Ser453=)
6g.107634649C>ACA365171326SOBPc.1805C>A (p.Ser602Ter)
c.1958C>A (p.Ser653Ter)
c.1862C>A (p.Ser621Ter)
c.1844C>A (p.Ser615Ter)
c.1217C>A (p.Ser406Ter)
c.1028C>A (p.Ser343Ter)
c.1358C>A (p.Ser453Ter)
6g.107634649C>GCA365171327SOBPc.1805C>G (p.Ser602Trp)
c.1958C>G (p.Ser653Trp)
c.1862C>G (p.Ser621Trp)
c.1844C>G (p.Ser615Trp)
c.1217C>G (p.Ser406Trp)
c.1028C>G (p.Ser343Trp)
c.1358C>G (p.Ser453Trp)
gnomAD v4
6g.107634649C>TCA365171328SOBPc.1805C>T (p.Ser602Leu)
c.1958C>T (p.Ser653Leu)
c.1862C>T (p.Ser621Leu)
c.1844C>T (p.Ser615Leu)
c.1217C>T (p.Ser406Leu)
c.1028C>T (p.Ser343Leu)
c.1358C>T (p.Ser453Leu)
gnomAD v4
6g.107634650G>ACA3946593SOBPc.1806G>A (p.Ser602=)
c.1959G>A (p.Ser653=)
c.1863G>A (p.Ser621=)
c.1845G>A (p.Ser615=)
c.1218G>A (p.Ser406=)
c.1029G>A (p.Ser343=)
c.1359G>A (p.Ser453=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.107634650G>CCA451581362SOBPc.1806G>C (p.Ser602=)
c.1959G>C (p.Ser653=)
c.1863G>C (p.Ser621=)
c.1845G>C (p.Ser615=)
c.1218G>C (p.Ser406=)
c.1029G>C (p.Ser343=)
c.1359G>C (p.Ser453=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.107634650G=CA1653939027SOBPc.1806G= (p.Ser602=)
c.1959G= (p.Ser653=)
c.1863G= (p.Ser621=)
c.1845G= (p.Ser615=)
c.1218G= (p.Ser406=)
c.1029G= (p.Ser343=)
c.1359G= (p.Ser453=)
6g.107634650G>TCA451581358SOBPc.1806G>T (p.Ser602=)
c.1959G>T (p.Ser653=)
c.1863G>T (p.Ser621=)
c.1845G>T (p.Ser615=)
c.1218G>T (p.Ser406=)
c.1029G>T (p.Ser343=)
c.1359G>T (p.Ser453=)
gnomAD v4 COSMIC
6g.107634651G>ACA365171329SOBPc.1807G>A (p.Gly603Ser)
c.1960G>A (p.Gly654Ser)
c.1864G>A (p.Gly622Ser)
c.1846G>A (p.Gly616Ser)
c.1219G>A (p.Gly407Ser)
c.1030G>A (p.Gly344Ser)
c.1360G>A (p.Gly454Ser)
gnomAD v4
6g.107634651G>CCA365171330SOBPc.1807G>C (p.Gly603Arg)
c.1960G>C (p.Gly654Arg)
c.1864G>C (p.Gly622Arg)
c.1846G>C (p.Gly616Arg)
c.1219G>C (p.Gly407Arg)
c.1030G>C (p.Gly344Arg)
c.1360G>C (p.Gly454Arg)
gnomAD v4
6g.107634651G>TCA365171331SOBPc.1807G>T (p.Gly603Cys)
c.1960G>T (p.Gly654Cys)
c.1864G>T (p.Gly622Cys)
c.1846G>T (p.Gly616Cys)
c.1219G>T (p.Gly407Cys)
c.1030G>T (p.Gly344Cys)
c.1360G>T (p.Gly454Cys)
gnomAD v4
6g.107634652G>ACA145013730SOBPc.1808G>A (p.Gly603Asp)
c.1961G>A (p.Gly654Asp)
c.1865G>A (p.Gly622Asp)
c.1847G>A (p.Gly616Asp)
c.1220G>A (p.Gly407Asp)
c.1031G>A (p.Gly344Asp)
c.1361G>A (p.Gly454Asp)
dbSNP gnomAD v4
6g.107634652G>CCA365171332SOBPc.1808G>C (p.Gly603Ala)
c.1961G>C (p.Gly654Ala)
c.1865G>C (p.Gly622Ala)
c.1847G>C (p.Gly616Ala)
c.1220G>C (p.Gly407Ala)
c.1031G>C (p.Gly344Ala)
c.1361G>C (p.Gly454Ala)
6g.107634652G=CA1653939031SOBPc.1808G= (p.Gly603=)
c.1961G= (p.Gly654=)
c.1865G= (p.Gly622=)
c.1847G= (p.Gly616=)
c.1220G= (p.Gly407=)
c.1031G= (p.Gly344=)
c.1361G= (p.Gly454=)
6g.107634652G>TCA365171333SOBPc.1808G>T (p.Gly603Val)
c.1961G>T (p.Gly654Val)
c.1865G>T (p.Gly622Val)
c.1847G>T (p.Gly616Val)
c.1220G>T (p.Gly407Val)
c.1031G>T (p.Gly344Val)
c.1361G>T (p.Gly454Val)
gnomAD v4
6g.107634653C>ACA451581376SOBPc.1809C>A (p.Gly603=)
c.1962C>A (p.Gly654=)
c.1866C>A (p.Gly622=)
c.1848C>A (p.Gly616=)
c.1221C>A (p.Gly407=)
c.1032C>A (p.Gly344=)
c.1362C>A (p.Gly454=)
gnomAD v4
6g.107634653C=CA1653939033SOBPc.1809C= (p.Gly603=)
c.1962C= (p.Gly654=)
c.1866C= (p.Gly622=)
c.1848C= (p.Gly616=)
c.1221C= (p.Gly407=)
c.1032C= (p.Gly344=)
c.1362C= (p.Gly454=)
6g.107634653C>GCA451581377SOBPc.1809C>G (p.Gly603=)
c.1962C>G (p.Gly654=)
c.1866C>G (p.Gly622=)
c.1848C>G (p.Gly616=)
c.1221C>G (p.Gly407=)
c.1032C>G (p.Gly344=)
c.1362C>G (p.Gly454=)
6g.107634653C>TCA451581381SOBPc.1809C>T (p.Gly603=)
c.1962C>T (p.Gly654=)
c.1866C>T (p.Gly622=)
c.1848C>T (p.Gly616=)
c.1221C>T (p.Gly407=)
c.1032C>T (p.Gly344=)
c.1362C>T (p.Gly454=)
dbSNP
6g.107634654C>ACA231522SOBPc.1810C>A (p.Gln604Lys)
c.1963C>A (p.Gln655Lys)
c.1867C>A (p.Gln623Lys)
c.1849C>A (p.Gln617Lys)
c.1222C>A (p.Gln408Lys)
c.1033C>A (p.Gln345Lys)
c.1363C>A (p.Gln455Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.107634654C=CA1653939039SOBPc.1810C= (p.Gln604=)
c.1963C= (p.Gln655=)
c.1867C= (p.Gln623=)
c.1849C= (p.Gln617=)
c.1222C= (p.Gln408=)
c.1033C= (p.Gln345=)
c.1363C= (p.Gln455=)
6g.107634654C>GCA365171334SOBPc.1810C>G (p.Gln604Glu)
c.1963C>G (p.Gln655Glu)
c.1867C>G (p.Gln623Glu)
c.1849C>G (p.Gln617Glu)
c.1222C>G (p.Gln408Glu)
c.1033C>G (p.Gln345Glu)
c.1363C>G (p.Gln455Glu)
6g.107634654C>TCA365171335SOBPc.1810C>T (p.Gln604Ter)
c.1963C>T (p.Gln655Ter)
c.1867C>T (p.Gln623Ter)
c.1849C>T (p.Gln617Ter)
c.1222C>T (p.Gln408Ter)
c.1033C>T (p.Gln345Ter)
c.1363C>T (p.Gln455Ter)
6g.107634655A>CCA365171336SOBPc.1811A>C (p.Gln604Pro)
c.1964A>C (p.Gln655Pro)
c.1868A>C (p.Gln623Pro)
c.1850A>C (p.Gln617Pro)
c.1223A>C (p.Gln408Pro)
c.1034A>C (p.Gln345Pro)
c.1364A>C (p.Gln455Pro)
6g.107634655A>GCA365171337SOBPc.1811A>G (p.Gln604Arg)
c.1964A>G (p.Gln655Arg)
c.1868A>G (p.Gln623Arg)
c.1850A>G (p.Gln617Arg)
c.1223A>G (p.Gln408Arg)
c.1034A>G (p.Gln345Arg)
c.1364A>G (p.Gln455Arg)
6g.107634655A>TCA365171338SOBPc.1811A>T (p.Gln604Leu)
c.1964A>T (p.Gln655Leu)
c.1868A>T (p.Gln623Leu)
c.1850A>T (p.Gln617Leu)
c.1223A>T (p.Gln408Leu)
c.1034A>T (p.Gln345Leu)
c.1364A>T (p.Gln455Leu)
6g.107634656G>ACA451581411SOBPc.1812G>A (p.Gln604=)
c.1965G>A (p.Gln655=)
c.1869G>A (p.Gln623=)
c.1851G>A (p.Gln617=)
c.1224G>A (p.Gln408=)
c.1035G>A (p.Gln345=)
c.1365G>A (p.Gln455=)
6g.107634656G>CCA365171339SOBPc.1812G>C (p.Gln604His)
c.1965G>C (p.Gln655His)
c.1869G>C (p.Gln623His)
c.1851G>C (p.Gln617His)
c.1224G>C (p.Gln408His)
c.1035G>C (p.Gln345His)
c.1365G>C (p.Gln455His)
6g.107634656G>TCA365171340SOBPc.1812G>T (p.Gln604His)
c.1965G>T (p.Gln655His)
c.1869G>T (p.Gln623His)
c.1851G>T (p.Gln617His)
c.1224G>T (p.Gln408His)
c.1035G>T (p.Gln345His)
c.1365G>T (p.Gln455His)
6g.107634657G>ACA3946594SOBPc.1813G>A (p.Ala605Thr)
c.1966G>A (p.Ala656Thr)
c.1870G>A (p.Ala624Thr)
c.1852G>A (p.Ala618Thr)
c.1225G>A (p.Ala409Thr)
c.1036G>A (p.Ala346Thr)
c.1366G>A (p.Ala456Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.107634657G>CCA365171341SOBPc.1813G>C (p.Ala605Pro)
c.1966G>C (p.Ala656Pro)
c.1870G>C (p.Ala624Pro)
c.1852G>C (p.Ala618Pro)
c.1225G>C (p.Ala409Pro)
c.1036G>C (p.Ala346Pro)
c.1366G>C (p.Ala456Pro)
gnomAD v4
6g.107634657G=CA1653939047SOBPc.1813G= (p.Ala605=)
c.1966G= (p.Ala656=)
c.1870G= (p.Ala624=)
c.1852G= (p.Ala618=)
c.1225G= (p.Ala409=)
c.1036G= (p.Ala346=)
c.1366G= (p.Ala456=)
6g.107634657G>TCA3946595SOBPc.1813G>T (p.Ala605Ser)
c.1966G>T (p.Ala656Ser)
c.1870G>T (p.Ala624Ser)
c.1852G>T (p.Ala618Ser)
c.1225G>T (p.Ala409Ser)
c.1036G>T (p.Ala346Ser)
c.1366G>T (p.Ala456Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.107634661_107634680dupCA2679876747SOBPc.1817_1836dup (p.Ala613Ter)
c.1970_1989dup (p.Ala664Ter)
c.1874_1893dup (p.Ala632Ter)
c.1856_1875dup (p.Ala626Ter)
c.1229_1248dup (p.Ala417Ter)
c.1040_1059dup (p.Ala354Ter)
c.1370_1389dup (p.Ala464Ter)
gnomAD v4
6g.107634660_107634683delCA2679876746SOBPc.1816_1839del (p.Leu606_Ala613del)
c.1969_1992del (p.Leu657_Ala664del)
c.1873_1896del (p.Leu625_Ala632del)
c.1855_1878del (p.Leu619_Ala626del)
c.1228_1251del (p.Leu410_Ala417del)
c.1039_1062del (p.Leu347_Ala354del)
c.1369_1392del (p.Leu457_Ala464del)
gnomAD v4
6g.107634658C>ACA365171342SOBPc.1814C>A (p.Ala605Asp)
c.1967C>A (p.Ala656Asp)
c.1871C>A (p.Ala624Asp)
c.1853C>A (p.Ala618Asp)
c.1226C>A (p.Ala409Asp)
c.1037C>A (p.Ala346Asp)
c.1367C>A (p.Ala456Asp)
6g.107634658C>GCA365171343SOBPc.1814C>G (p.Ala605Gly)
c.1967C>G (p.Ala656Gly)
c.1871C>G (p.Ala624Gly)
c.1853C>G (p.Ala618Gly)
c.1226C>G (p.Ala409Gly)
c.1037C>G (p.Ala346Gly)
c.1367C>G (p.Ala456Gly)
6g.107634658C>TCA365171344SOBPc.1814C>T (p.Ala605Val)
c.1967C>T (p.Ala656Val)
c.1871C>T (p.Ala624Val)
c.1853C>T (p.Ala618Val)
c.1226C>T (p.Ala409Val)
c.1037C>T (p.Ala346Val)
c.1367C>T (p.Ala456Val)
6g.107634659C>ACA451581428SOBPc.1815C>A (p.Ala605=)
c.1968C>A (p.Ala656=)
c.1872C>A (p.Ala624=)
c.1854C>A (p.Ala618=)
c.1227C>A (p.Ala409=)
c.1038C>A (p.Ala346=)
c.1368C>A (p.Ala456=)
6g.107634659C>GCA451581431SOBPc.1815C>G (p.Ala605=)
c.1968C>G (p.Ala656=)
c.1872C>G (p.Ala624=)
c.1854C>G (p.Ala618=)
c.1227C>G (p.Ala409=)
c.1038C>G (p.Ala346=)
c.1368C>G (p.Ala456=)
gnomAD v4
6g.107634659C>TCA451581438SOBPc.1815C>T (p.Ala605=)
c.1968C>T (p.Ala656=)
c.1872C>T (p.Ala624=)
c.1854C>T (p.Ala618=)
c.1227C>T (p.Ala409=)
c.1038C>T (p.Ala346=)
c.1368C>T (p.Ala456=)
6g.107634660C>ACA365171345SOBPc.1816C>A (p.Leu606Met)
c.1969C>A (p.Leu657Met)
c.1873C>A (p.Leu625Met)
c.1855C>A (p.Leu619Met)
c.1228C>A (p.Leu410Met)
c.1039C>A (p.Leu347Met)
c.1369C>A (p.Leu457Met)
6g.107634660C=CA1653939050SOBPc.1816C= (p.Leu606=)
c.1969C= (p.Leu657=)
c.1873C= (p.Leu625=)
c.1855C= (p.Leu619=)
c.1228C= (p.Leu410=)
c.1039C= (p.Leu347=)
c.1369C= (p.Leu457=)
6g.107634660C>GCA365171346SOBPc.1816C>G (p.Leu606Val)
c.1969C>G (p.Leu657Val)
c.1873C>G (p.Leu625Val)
c.1855C>G (p.Leu619Val)
c.1228C>G (p.Leu410Val)
c.1039C>G (p.Leu347Val)
c.1369C>G (p.Leu457Val)
dbSNP gnomAD v3 gnomAD v4
6g.107634660C>TCA451581440SOBPc.1816C>T (p.Leu606=)
c.1969C>T (p.Leu657=)
c.1873C>T (p.Leu625=)
c.1855C>T (p.Leu619=)
c.1228C>T (p.Leu410=)
c.1039C>T (p.Leu347=)
c.1369C>T (p.Leu457=)
dbSNP gnomAD v4
6g.107634661T>ACA3946596SOBPc.1817T>A (p.Leu606Gln)
c.1970T>A (p.Leu657Gln)
c.1874T>A (p.Leu625Gln)
c.1856T>A (p.Leu619Gln)
c.1229T>A (p.Leu410Gln)
c.1040T>A (p.Leu347Gln)
c.1370T>A (p.Leu457Gln)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.107634661T>CCA365171348SOBPc.1817T>C (p.Leu606Pro)
c.1970T>C (p.Leu657Pro)
c.1874T>C (p.Leu625Pro)
c.1856T>C (p.Leu619Pro)
c.1229T>C (p.Leu410Pro)
c.1040T>C (p.Leu347Pro)
c.1370T>C (p.Leu457Pro)
gnomAD v4
6g.107634661T>GCA365171347SOBPc.1817T>G (p.Leu606Arg)
c.1970T>G (p.Leu657Arg)
c.1874T>G (p.Leu625Arg)
c.1856T>G (p.Leu619Arg)
c.1229T>G (p.Leu410Arg)
c.1040T>G (p.Leu347Arg)
c.1370T>G (p.Leu457Arg)
dbSNP
6g.107634661T=CA1653939052SOBPc.1817T= (p.Leu606=)
c.1970T= (p.Leu657=)
c.1874T= (p.Leu625=)
c.1856T= (p.Leu619=)
c.1229T= (p.Leu410=)
c.1040T= (p.Leu347=)
c.1370T= (p.Leu457=)
6g.107634662G>ACA3946597SOBPc.1818G>A (p.Leu606=)
c.1971G>A (p.Leu657=)
c.1875G>A (p.Leu625=)
c.1857G>A (p.Leu619=)
c.1230G>A (p.Leu410=)
c.1041G>A (p.Leu347=)
c.1371G>A (p.Leu457=)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.107634662G>CCA451581443SOBPc.1818G>C (p.Leu606=)
c.1971G>C (p.Leu657=)
c.1875G>C (p.Leu625=)
c.1857G>C (p.Leu619=)
c.1230G>C (p.Leu410=)
c.1041G>C (p.Leu347=)
c.1371G>C (p.Leu457=)
gnomAD v4
6g.107634662G=CA1653939055SOBPc.1818G= (p.Leu606=)
c.1971G= (p.Leu657=)
c.1875G= (p.Leu625=)
c.1857G= (p.Leu619=)
c.1230G= (p.Leu410=)
c.1041G= (p.Leu347=)
c.1371G= (p.Leu457=)
6g.107634662G>TCA451581444SOBPc.1818G>T (p.Leu606=)
c.1971G>T (p.Leu657=)
c.1875G>T (p.Leu625=)
c.1857G>T (p.Leu619=)
c.1230G>T (p.Leu410=)
c.1041G>T (p.Leu347=)
c.1371G>T (p.Leu457=)
dbSNP gnomAD v4
6g.107634663A=CA1653939058SOBPc.1819A= (p.Ser607=)
c.1972A= (p.Ser658=)
c.1876A= (p.Ser626=)
c.1858A= (p.Ser620=)
c.1231A= (p.Ser411=)
c.1042A= (p.Ser348=)
c.1372A= (p.Ser458=)
6g.107634663A>CCA365171349SOBPc.1819A>C (p.Ser607Arg)
c.1972A>C (p.Ser658Arg)
c.1876A>C (p.Ser626Arg)
c.1858A>C (p.Ser620Arg)
c.1231A>C (p.Ser411Arg)
c.1042A>C (p.Ser348Arg)
c.1372A>C (p.Ser458Arg)
6g.107634663A>GCA365171351SOBPc.1819A>G (p.Ser607Gly)
c.1972A>G (p.Ser658Gly)
c.1876A>G (p.Ser626Gly)
c.1858A>G (p.Ser620Gly)
c.1231A>G (p.Ser411Gly)
c.1042A>G (p.Ser348Gly)
c.1372A>G (p.Ser458Gly)
dbSNP gnomAD v4
6g.107634663A>TCA365171350SOBPc.1819A>T (p.Ser607Cys)
c.1972A>T (p.Ser658Cys)
c.1876A>T (p.Ser626Cys)
c.1858A>T (p.Ser620Cys)
c.1231A>T (p.Ser411Cys)
c.1042A>T (p.Ser348Cys)
c.1372A>T (p.Ser458Cys)
6g.107634664G>ACA365171352SOBPc.1820G>A (p.Ser607Asn)
c.1973G>A (p.Ser658Asn)
c.1877G>A (p.Ser626Asn)
c.1859G>A (p.Ser620Asn)
c.1232G>A (p.Ser411Asn)
c.1043G>A (p.Ser348Asn)
c.1373G>A (p.Ser458Asn)
dbSNP gnomAD v2 gnomAD v4
6g.107634664G>CCA365171353SOBPc.1820G>C (p.Ser607Thr)
c.1973G>C (p.Ser658Thr)
c.1877G>C (p.Ser626Thr)
c.1859G>C (p.Ser620Thr)
c.1232G>C (p.Ser411Thr)
c.1043G>C (p.Ser348Thr)
c.1373G>C (p.Ser458Thr)
6g.107634664G=CA1653939061SOBPc.1820G= (p.Ser607=)
c.1973G= (p.Ser658=)
c.1877G= (p.Ser626=)
c.1859G= (p.Ser620=)
c.1232G= (p.Ser411=)
c.1043G= (p.Ser348=)
c.1373G= (p.Ser458=)
6g.107634664G>TCA145013774SOBPc.1820G>T (p.Ser607Ile)
c.1973G>T (p.Ser658Ile)
c.1877G>T (p.Ser626Ile)
c.1859G>T (p.Ser620Ile)
c.1232G>T (p.Ser411Ile)
c.1043G>T (p.Ser348Ile)
c.1373G>T (p.Ser458Ile)
dbSNP gnomAD v4
6g.107634665C>ACA365171354SOBPc.1821C>A (p.Ser607Arg)
c.1974C>A (p.Ser658Arg)
c.1878C>A (p.Ser626Arg)
c.1860C>A (p.Ser620Arg)
c.1233C>A (p.Ser411Arg)
c.1044C>A (p.Ser348Arg)
c.1374C>A (p.Ser458Arg)
gnomAD v4
6g.107634665C>GCA365171355SOBPc.1821C>G (p.Ser607Arg)
c.1974C>G (p.Ser658Arg)
c.1878C>G (p.Ser626Arg)
c.1860C>G (p.Ser620Arg)
c.1233C>G (p.Ser411Arg)
c.1044C>G (p.Ser348Arg)
c.1374C>G (p.Ser458Arg)
6g.107634665C>TCA451581455SOBPc.1821C>T (p.Ser607=)
c.1974C>T (p.Ser658=)
c.1878C>T (p.Ser626=)
c.1860C>T (p.Ser620=)
c.1233C>T (p.Ser411=)
c.1044C>T (p.Ser348=)
c.1374C>T (p.Ser458=)
dbSNP gnomAD v4 COSMIC
6g.107634666C>ACA365171356SOBPc.1822C>A (p.Leu608Met)
c.1975C>A (p.Leu659Met)
c.1879C>A (p.Leu627Met)
c.1861C>A (p.Leu621Met)
c.1234C>A (p.Leu412Met)
c.1045C>A (p.Leu349Met)
c.1375C>A (p.Leu459Met)
6g.107634666C>GCA365171357SOBPc.1822C>G (p.Leu608Val)
c.1975C>G (p.Leu659Val)
c.1879C>G (p.Leu627Val)
c.1861C>G (p.Leu621Val)
c.1234C>G (p.Leu412Val)
c.1045C>G (p.Leu349Val)
c.1375C>G (p.Leu459Val)
6g.107634666C>TCA451581458SOBPc.1822C>T (p.Leu608=)
c.1975C>T (p.Leu659=)
c.1879C>T (p.Leu627=)
c.1861C>T (p.Leu621=)
c.1234C>T (p.Leu412=)
c.1045C>T (p.Leu349=)
c.1375C>T (p.Leu459=)
dbSNP gnomAD v4
6g.107634667T>ACA365171358SOBPc.1823T>A (p.Leu608Gln)
c.1976T>A (p.Leu659Gln)
c.1880T>A (p.Leu627Gln)
c.1862T>A (p.Leu621Gln)
c.1235T>A (p.Leu412Gln)
c.1046T>A (p.Leu349Gln)
c.1376T>A (p.Leu459Gln)
6g.107634667T>CCA365171359SOBPc.1823T>C (p.Leu608Pro)
c.1976T>C (p.Leu659Pro)
c.1880T>C (p.Leu627Pro)
c.1862T>C (p.Leu621Pro)
c.1235T>C (p.Leu412Pro)
c.1046T>C (p.Leu349Pro)
c.1376T>C (p.Leu459Pro)
gnomAD v4
6g.107634667T>GCA365171360SOBPc.1823T>G (p.Leu608Arg)
c.1976T>G (p.Leu659Arg)
c.1880T>G (p.Leu627Arg)
c.1862T>G (p.Leu621Arg)
c.1235T>G (p.Leu412Arg)
c.1046T>G (p.Leu349Arg)
c.1376T>G (p.Leu459Arg)
6g.107634668G>ACA451581463SOBPc.1824G>A (p.Leu608=)
c.1977G>A (p.Leu659=)
c.1881G>A (p.Leu627=)
c.1863G>A (p.Leu621=)
c.1236G>A (p.Leu412=)
c.1047G>A (p.Leu349=)
c.1377G>A (p.Leu459=)
6g.107634668G>CCA451581464SOBPc.1824G>C (p.Leu608=)
c.1977G>C (p.Leu659=)
c.1881G>C (p.Leu627=)
c.1863G>C (p.Leu621=)
c.1236G>C (p.Leu412=)
c.1047G>C (p.Leu349=)
c.1377G>C (p.Leu459=)
6g.107634668G>TCA451581465SOBPc.1824G>T (p.Leu608=)
c.1977G>T (p.Leu659=)
c.1881G>T (p.Leu627=)
c.1863G>T (p.Leu621=)
c.1236G>T (p.Leu412=)
c.1047G>T (p.Leu349=)
c.1377G>T (p.Leu459=)
dbSNP
6g.107634669G>ACA365171361SOBPc.1825G>A (p.Ala609Thr)
c.1978G>A (p.Ala660Thr)
c.1882G>A (p.Ala628Thr)
c.1864G>A (p.Ala622Thr)
c.1237G>A (p.Ala413Thr)
c.1048G>A (p.Ala350Thr)
c.1378G>A (p.Ala460Thr)
dbSNP
6g.107634669G>CCA365171362SOBPc.1825G>C (p.Ala609Pro)
c.1978G>C (p.Ala660Pro)
c.1882G>C (p.Ala628Pro)
c.1864G>C (p.Ala622Pro)
c.1237G>C (p.Ala413Pro)
c.1048G>C (p.Ala350Pro)
c.1378G>C (p.Ala460Pro)
6g.107634669G=CA1653939063SOBPc.1825G= (p.Ala609=)
c.1978G= (p.Ala660=)
c.1882G= (p.Ala628=)
c.1864G= (p.Ala622=)
c.1237G= (p.Ala413=)
c.1048G= (p.Ala350=)
c.1378G= (p.Ala460=)
6g.107634669G>TCA365171363SOBPc.1825G>T (p.Ala609Ser)
c.1978G>T (p.Ala660Ser)
c.1882G>T (p.Ala628Ser)
c.1864G>T (p.Ala622Ser)
c.1237G>T (p.Ala413Ser)
c.1048G>T (p.Ala350Ser)
c.1378G>T (p.Ala460Ser)
6g.107634669_107634674dupCA2679876748SOBPc.1825_1830dup (p.Pro610_Thr611insAlaPro)
c.1978_1983dup (p.Pro661_Thr662insAlaPro)
c.1882_1887dup (p.Pro629_Thr630insAlaPro)
c.1864_1869dup (p.Pro623_Thr624insAlaPro)
c.1237_1242dup (p.Pro414_Thr415insAlaPro)
c.1048_1053dup (p.Pro351_Thr352insAlaPro)
c.1378_1383dup (p.Pro461_Thr462insAlaPro)
gnomAD v4
6g.107634669_107634675delinsGCGCCCACA1653939065SOBPc.1825_1831delinsGCGCCCA (p.Ala609=)
c.1978_1984delinsGCGCCCA (p.Ala660=)
c.1882_1888delinsGCGCCCA (p.Ala628=)
c.1864_1870delinsGCGCCCA (p.Ala622=)
c.1237_1243delinsGCGCCCA (p.Ala413=)
c.1048_1054delinsGCGCCCA (p.Ala350=)
c.1378_1384delinsGCGCCCA (p.Ala460=)
6g.107634670C>ACA365171364SOBPc.1826C>A (p.Ala609Glu)
c.1979C>A (p.Ala660Glu)
c.1883C>A (p.Ala628Glu)
c.1865C>A (p.Ala622Glu)
c.1238C>A (p.Ala413Glu)
c.1049C>A (p.Ala350Glu)
c.1379C>A (p.Ala460Glu)
gnomAD v4
6g.107634670C>GCA365171366SOBPc.1826C>G (p.Ala609Gly)
c.1979C>G (p.Ala660Gly)
c.1883C>G (p.Ala628Gly)
c.1865C>G (p.Ala622Gly)
c.1238C>G (p.Ala413Gly)
c.1049C>G (p.Ala350Gly)
c.1379C>G (p.Ala460Gly)
6g.107634670C>TCA365171365SOBPc.1826C>T (p.Ala609Val)
c.1979C>T (p.Ala660Val)
c.1883C>T (p.Ala628Val)
c.1865C>T (p.Ala622Val)
c.1238C>T (p.Ala413Val)
c.1049C>T (p.Ala350Val)
c.1379C>T (p.Ala460Val)
gnomAD v4
6g.107634675_107634680delCA1653939069SOBPc.1831_1836del (p.Thr611_Pro612del)
c.1984_1989del (p.Thr662_Pro663del)
c.1888_1893del (p.Thr630_Pro631del)
c.1870_1875del (p.Thr624_Pro625del)
c.1243_1248del (p.Thr415_Pro416del)
c.1054_1059del (p.Thr352_Pro353del)
c.1384_1389del (p.Thr462_Pro463del)
dbSNP
6g.107634671G>ACA451581482SOBPc.1827G>A (p.Ala609=)
c.1980G>A (p.Ala660=)
c.1884G>A (p.Ala628=)
c.1866G>A (p.Ala622=)
c.1239G>A (p.Ala413=)
c.1050G>A (p.Ala350=)
c.1380G>A (p.Ala460=)
dbSNP gnomAD v2 gnomAD v4
6g.107634671G>CCA451581484SOBPc.1827G>C (p.Ala609=)
c.1980G>C (p.Ala660=)
c.1884G>C (p.Ala628=)
c.1866G>C (p.Ala622=)
c.1239G>C (p.Ala413=)
c.1050G>C (p.Ala350=)
c.1380G>C (p.Ala460=)
6g.107634671G=CA1653939072SOBPc.1827G= (p.Ala609=)
c.1980G= (p.Ala660=)
c.1884G= (p.Ala628=)
c.1866G= (p.Ala622=)
c.1239G= (p.Ala413=)
c.1050G= (p.Ala350=)
c.1380G= (p.Ala460=)
6g.107634671G>TCA3946598SOBPc.1827G>T (p.Ala609=)
c.1980G>T (p.Ala660=)
c.1884G>T (p.Ala628=)
c.1866G>T (p.Ala622=)
c.1239G>T (p.Ala413=)
c.1050G>T (p.Ala350=)
c.1380G>T (p.Ala460=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.107634672C>ACA365171367SOBPc.1828C>A (p.Pro610Thr)
c.1981C>A (p.Pro661Thr)
c.1885C>A (p.Pro629Thr)
c.1867C>A (p.Pro623Thr)
c.1240C>A (p.Pro414Thr)
c.1051C>A (p.Pro351Thr)
c.1381C>A (p.Pro461Thr)
6g.107634672C>GCA365171368SOBPc.1828C>G (p.Pro610Ala)
c.1981C>G (p.Pro661Ala)
c.1885C>G (p.Pro629Ala)
c.1867C>G (p.Pro623Ala)
c.1240C>G (p.Pro414Ala)
c.1051C>G (p.Pro351Ala)
c.1381C>G (p.Pro461Ala)
6g.107634672C>TCA365171369SOBPc.1828C>T (p.Pro610Ser)
c.1981C>T (p.Pro661Ser)
c.1885C>T (p.Pro629Ser)
c.1867C>T (p.Pro623Ser)
c.1240C>T (p.Pro414Ser)
c.1051C>T (p.Pro351Ser)
c.1381C>T (p.Pro461Ser)
gnomAD v4
6g.107634674delCA2772523041SOBPc.1830del (p.Thr611ArgfsTer13)
c.1983del (p.Thr662ArgfsTer13)
c.1887del (p.Thr630ArgfsTer13)
c.1869del (p.Thr624ArgfsTer13)
c.1242del (p.Thr415ArgfsTer13)
c.1053del (p.Thr352ArgfsTer13)
c.1383del (p.Thr462ArgfsTer13)
6g.107634673C>ACA365171372SOBPc.1829C>A (p.Pro610His)
c.1982C>A (p.Pro661His)
c.1886C>A (p.Pro629His)
c.1868C>A (p.Pro623His)
c.1241C>A (p.Pro414His)
c.1052C>A (p.Pro351His)
c.1382C>A (p.Pro461His)
gnomAD v4
6g.107634673C>GCA365171370SOBPc.1829C>G (p.Pro610Arg)
c.1982C>G (p.Pro661Arg)
c.1886C>G (p.Pro629Arg)
c.1868C>G (p.Pro623Arg)
c.1241C>G (p.Pro414Arg)
c.1052C>G (p.Pro351Arg)
c.1382C>G (p.Pro461Arg)
6g.107634673C>TCA365171371SOBPc.1829C>T (p.Pro610Leu)
c.1982C>T (p.Pro661Leu)
c.1886C>T (p.Pro629Leu)
c.1868C>T (p.Pro623Leu)
c.1241C>T (p.Pro414Leu)
c.1052C>T (p.Pro351Leu)
c.1382C>T (p.Pro461Leu)
6g.107634674C>ACA451581489SOBPc.1830C>A (p.Pro610=)
c.1983C>A (p.Pro661=)
c.1887C>A (p.Pro629=)
c.1869C>A (p.Pro623=)
c.1242C>A (p.Pro414=)
c.1053C>A (p.Pro351=)
c.1383C>A (p.Pro461=)
6g.107634674C>GCA451581491SOBPc.1830C>G (p.Pro610=)
c.1983C>G (p.Pro661=)
c.1887C>G (p.Pro629=)
c.1869C>G (p.Pro623=)
c.1242C>G (p.Pro414=)
c.1053C>G (p.Pro351=)
c.1383C>G (p.Pro461=)
6g.107634674C>TCA451581493SOBPc.1830C>T (p.Pro610=)
c.1983C>T (p.Pro661=)
c.1887C>T (p.Pro629=)
c.1869C>T (p.Pro623=)
c.1242C>T (p.Pro414=)
c.1053C>T (p.Pro351=)
c.1383C>T (p.Pro461=)
gnomAD v4
6g.107634675A>CCA365171373SOBPc.1831A>C (p.Thr611Pro)
c.1984A>C (p.Thr662Pro)
c.1888A>C (p.Thr630Pro)
c.1870A>C (p.Thr624Pro)
c.1243A>C (p.Thr415Pro)
c.1054A>C (p.Thr352Pro)
c.1384A>C (p.Thr462Pro)
gnomAD v4
6g.107634675A>GCA365171374SOBPc.1831A>G (p.Thr611Ala)
c.1984A>G (p.Thr662Ala)
c.1888A>G (p.Thr630Ala)
c.1870A>G (p.Thr624Ala)
c.1243A>G (p.Thr415Ala)
c.1054A>G (p.Thr352Ala)
c.1384A>G (p.Thr462Ala)
6g.107634675A>TCA365171375SOBPc.1831A>T (p.Thr611Ser)
c.1984A>T (p.Thr662Ser)
c.1888A>T (p.Thr630Ser)
c.1870A>T (p.Thr624Ser)
c.1243A>T (p.Thr415Ser)
c.1054A>T (p.Thr352Ser)
c.1384A>T (p.Thr462Ser)
gnomAD v4
6g.107634676C>ACA365171376SOBPc.1832C>A (p.Thr611Lys)
c.1985C>A (p.Thr662Lys)
c.1889C>A (p.Thr630Lys)
c.1871C>A (p.Thr624Lys)
c.1244C>A (p.Thr415Lys)
c.1055C>A (p.Thr352Lys)
c.1385C>A (p.Thr462Lys)
dbSNP
6g.107634676C=CA1653939075SOBPc.1832C= (p.Thr611=)
c.1985C= (p.Thr662=)
c.1889C= (p.Thr630=)
c.1871C= (p.Thr624=)
c.1244C= (p.Thr415=)
c.1055C= (p.Thr352=)
c.1385C= (p.Thr462=)
6g.107634676C>GCA365171377SOBPc.1832C>G (p.Thr611Arg)
c.1985C>G (p.Thr662Arg)
c.1889C>G (p.Thr630Arg)
c.1871C>G (p.Thr624Arg)
c.1244C>G (p.Thr415Arg)
c.1055C>G (p.Thr352Arg)
c.1385C>G (p.Thr462Arg)
gnomAD v4
6g.107634676C>TCA145013790SOBPc.1832C>T (p.Thr611Met)
c.1985C>T (p.Thr662Met)
c.1889C>T (p.Thr630Met)
c.1871C>T (p.Thr624Met)
c.1244C>T (p.Thr415Met)
c.1055C>T (p.Thr352Met)
c.1385C>T (p.Thr462Met)
dbSNP gnomAD v3 gnomAD v4
6g.107634677G>ACA451581504SOBPc.1833G>A (p.Thr611=)
c.1986G>A (p.Thr662=)
c.1890G>A (p.Thr630=)
c.1872G>A (p.Thr624=)
c.1245G>A (p.Thr415=)
c.1056G>A (p.Thr352=)
c.1386G>A (p.Thr462=)
dbSNP gnomAD v2 gnomAD v4
6g.107634677G>CCA451581507SOBPc.1833G>C (p.Thr611=)
c.1986G>C (p.Thr662=)
c.1890G>C (p.Thr630=)
c.1872G>C (p.Thr624=)
c.1245G>C (p.Thr415=)
c.1056G>C (p.Thr352=)
c.1386G>C (p.Thr462=)
6g.107634677G=CA1653939081SOBPc.1833G= (p.Thr611=)
c.1986G= (p.Thr662=)
c.1890G= (p.Thr630=)
c.1872G= (p.Thr624=)
c.1245G= (p.Thr415=)
c.1056G= (p.Thr352=)
c.1386G= (p.Thr462=)
6g.107634677G>TCA451581510SOBPc.1833G>T (p.Thr611=)
c.1986G>T (p.Thr662=)
c.1890G>T (p.Thr630=)
c.1872G>T (p.Thr624=)
c.1245G>T (p.Thr415=)
c.1056G>T (p.Thr352=)
c.1386G>T (p.Thr462=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.107634678C>ACA365171378SOBPc.1834C>A (p.Pro612Thr)
c.1987C>A (p.Pro663Thr)
c.1891C>A (p.Pro631Thr)
c.1873C>A (p.Pro625Thr)
c.1246C>A (p.Pro416Thr)
c.1057C>A (p.Pro353Thr)
c.1387C>A (p.Pro463Thr)
6g.107634678C=CA1653939085SOBPc.1834C= (p.Pro612=)
c.1987C= (p.Pro663=)
c.1891C= (p.Pro631=)
c.1873C= (p.Pro625=)
c.1246C= (p.Pro416=)
c.1057C= (p.Pro353=)
c.1387C= (p.Pro463=)
6g.107634678C>GCA365171379SOBPc.1834C>G (p.Pro612Ala)
c.1987C>G (p.Pro663Ala)
c.1891C>G (p.Pro631Ala)
c.1873C>G (p.Pro625Ala)
c.1246C>G (p.Pro416Ala)
c.1057C>G (p.Pro353Ala)
c.1387C>G (p.Pro463Ala)
gnomAD v4
6g.107634678C>TCA365171380SOBPc.1834C>T (p.Pro612Ser)
c.1987C>T (p.Pro663Ser)
c.1891C>T (p.Pro631Ser)
c.1873C>T (p.Pro625Ser)
c.1246C>T (p.Pro416Ser)
c.1057C>T (p.Pro353Ser)
c.1387C>T (p.Pro463Ser)
dbSNP gnomAD v2 gnomAD v4
6g.107634679C>ACA365171381SOBPc.1835C>A (p.Pro612His)
c.1988C>A (p.Pro663His)
c.1892C>A (p.Pro631His)
c.1874C>A (p.Pro625His)
c.1247C>A (p.Pro416His)
c.1058C>A (p.Pro353His)
c.1388C>A (p.Pro463His)
gnomAD v4
6g.107634679C=CA1653939088SOBPc.1835C= (p.Pro612=)
c.1988C= (p.Pro663=)
c.1892C= (p.Pro631=)
c.1874C= (p.Pro625=)
c.1247C= (p.Pro416=)
c.1058C= (p.Pro353=)
c.1388C= (p.Pro463=)
6g.107634679C>GCA365171382SOBPc.1835C>G (p.Pro612Arg)
c.1988C>G (p.Pro663Arg)
c.1892C>G (p.Pro631Arg)
c.1874C>G (p.Pro625Arg)
c.1247C>G (p.Pro416Arg)
c.1058C>G (p.Pro353Arg)
c.1388C>G (p.Pro463Arg)
6g.107634679C>TCA365171383SOBPc.1835C>T (p.Pro612Leu)
c.1988C>T (p.Pro663Leu)
c.1892C>T (p.Pro631Leu)
c.1874C>T (p.Pro625Leu)
c.1247C>T (p.Pro416Leu)
c.1058C>T (p.Pro353Leu)
c.1388C>T (p.Pro463Leu)
dbSNP gnomAD v2 gnomAD v4
6g.107634680C>ACA451581512SOBPc.1836C>A (p.Pro612=)
c.1989C>A (p.Pro663=)
c.1893C>A (p.Pro631=)
c.1875C>A (p.Pro625=)
c.1248C>A (p.Pro416=)
c.1059C>A (p.Pro353=)
c.1389C>A (p.Pro463=)
6g.107634680C=CA1653939090SOBPc.1836C= (p.Pro612=)
c.1989C= (p.Pro663=)
c.1893C= (p.Pro631=)
c.1875C= (p.Pro625=)
c.1248C= (p.Pro416=)
c.1059C= (p.Pro353=)
c.1389C= (p.Pro463=)
6g.107634680C>GCA451581513SOBPc.1836C>G (p.Pro612=)
c.1989C>G (p.Pro663=)
c.1893C>G (p.Pro631=)
c.1875C>G (p.Pro625=)
c.1248C>G (p.Pro416=)
c.1059C>G (p.Pro353=)
c.1389C>G (p.Pro463=)
6g.107634680C>TCA3946599SOBPc.1836C>T (p.Pro612=)
c.1989C>T (p.Pro663=)
c.1893C>T (p.Pro631=)
c.1875C>T (p.Pro625=)
c.1248C>T (p.Pro416=)
c.1059C>T (p.Pro353=)
c.1389C>T (p.Pro463=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.107634681G>ACA365171384SOBPc.1837G>A (p.Ala613Thr)
c.1990G>A (p.Ala664Thr)
c.1894G>A (p.Ala632Thr)
c.1876G>A (p.Ala626Thr)
c.1249G>A (p.Ala417Thr)
c.1060G>A (p.Ala354Thr)
c.1390G>A (p.Ala464Thr)
dbSNP gnomAD v2 gnomAD v4
6g.107634681G>CCA365171386SOBPc.1837G>C (p.Ala613Pro)
c.1990G>C (p.Ala664Pro)
c.1894G>C (p.Ala632Pro)
c.1876G>C (p.Ala626Pro)
c.1249G>C (p.Ala417Pro)
c.1060G>C (p.Ala354Pro)
c.1390G>C (p.Ala464Pro)
6g.107634681G=CA1653939091SOBPc.1837G= (p.Ala613=)
c.1990G= (p.Ala664=)
c.1894G= (p.Ala632=)
c.1876G= (p.Ala626=)
c.1249G= (p.Ala417=)
c.1060G= (p.Ala354=)
c.1390G= (p.Ala464=)
6g.107634681G>TCA365171385SOBPc.1837G>T (p.Ala613Ser)
c.1990G>T (p.Ala664Ser)
c.1894G>T (p.Ala632Ser)
c.1876G>T (p.Ala626Ser)
c.1249G>T (p.Ala417Ser)
c.1060G>T (p.Ala354Ser)
c.1390G>T (p.Ala464Ser)
dbSNP gnomAD v4
6g.107634682C>ACA365171387SOBPc.1838C>A (p.Ala613Asp)
c.1991C>A (p.Ala664Asp)
c.1895C>A (p.Ala632Asp)
c.1877C>A (p.Ala626Asp)
c.1250C>A (p.Ala417Asp)
c.1061C>A (p.Ala354Asp)
c.1391C>A (p.Ala464Asp)
gnomAD v4
6g.107634682C>GCA365171388SOBPc.1838C>G (p.Ala613Gly)
c.1991C>G (p.Ala664Gly)
c.1895C>G (p.Ala632Gly)
c.1877C>G (p.Ala626Gly)
c.1250C>G (p.Ala417Gly)
c.1061C>G (p.Ala354Gly)
c.1391C>G (p.Ala464Gly)
6g.107634682C>TCA365171389SOBPc.1838C>T (p.Ala613Val)
c.1991C>T (p.Ala664Val)
c.1895C>T (p.Ala632Val)
c.1877C>T (p.Ala626Val)
c.1250C>T (p.Ala417Val)
c.1061C>T (p.Ala354Val)
c.1391C>T (p.Ala464Val)
6g.107634683C>ACA451581527SOBPc.1839C>A (p.Ala613=)
c.1992C>A (p.Ala664=)
c.1896C>A (p.Ala632=)
c.1878C>A (p.Ala626=)
c.1251C>A (p.Ala417=)
c.1062C>A (p.Ala354=)
c.1392C>A (p.Ala464=)
6g.107634683C=CA1653939093SOBPc.1839C= (p.Ala613=)
c.1992C= (p.Ala664=)
c.1896C= (p.Ala632=)
c.1878C= (p.Ala626=)
c.1251C= (p.Ala417=)
c.1062C= (p.Ala354=)
c.1392C= (p.Ala464=)
6g.107634683C>GCA451581532SOBPc.1839C>G (p.Ala613=)
c.1992C>G (p.Ala664=)
c.1896C>G (p.Ala632=)
c.1878C>G (p.Ala626=)
c.1251C>G (p.Ala417=)
c.1062C>G (p.Ala354=)
c.1392C>G (p.Ala464=)
dbSNP gnomAD v4
6g.107634683C>TCA451581529SOBPc.1839C>T (p.Ala613=)
c.1992C>T (p.Ala664=)
c.1896C>T (p.Ala632=)
c.1878C>T (p.Ala626=)
c.1251C>T (p.Ala417=)
c.1062C>T (p.Ala354=)
c.1392C>T (p.Ala464=)
dbSNP gnomAD v4
6g.107634684G>ACA3946600SOBPc.1840G>A (p.Glu614Lys)
c.1993G>A (p.Glu665Lys)
c.1897G>A (p.Glu633Lys)
c.1879G>A (p.Glu627Lys)
c.1252G>A (p.Glu418Lys)
c.1063G>A (p.Glu355Lys)
c.1393G>A (p.Glu465Lys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.107634684G>CCA365171390SOBPc.1840G>C (p.Glu614Gln)
c.1993G>C (p.Glu665Gln)
c.1897G>C (p.Glu633Gln)
c.1879G>C (p.Glu627Gln)
c.1252G>C (p.Glu418Gln)
c.1063G>C (p.Glu355Gln)
c.1393G>C (p.Glu465Gln)
dbSNP
6g.107634684G=CA1653939096SOBPc.1840G= (p.Glu614=)
c.1993G= (p.Glu665=)
c.1897G= (p.Glu633=)
c.1879G= (p.Glu627=)
c.1252G= (p.Glu418=)
c.1063G= (p.Glu355=)
c.1393G= (p.Glu465=)
6g.107634684G>TCA365171391SOBPc.1840G>T (p.Glu614Ter)
c.1993G>T (p.Glu665Ter)
c.1897G>T (p.Glu633Ter)
c.1879G>T (p.Glu627Ter)
c.1252G>T (p.Glu418Ter)
c.1063G>T (p.Glu355Ter)
c.1393G>T (p.Glu465Ter)
gnomAD v4
6g.107634685A>CCA365171394SOBPc.1841A>C (p.Glu614Ala)
c.1994A>C (p.Glu665Ala)
c.1898A>C (p.Glu633Ala)
c.1880A>C (p.Glu627Ala)
c.1253A>C (p.Glu418Ala)
c.1064A>C (p.Glu355Ala)
c.1394A>C (p.Glu465Ala)
6g.107634685A>GCA365171392SOBPc.1841A>G (p.Glu614Gly)
c.1994A>G (p.Glu665Gly)
c.1898A>G (p.Glu633Gly)
c.1880A>G (p.Glu627Gly)
c.1253A>G (p.Glu418Gly)
c.1064A>G (p.Glu355Gly)
c.1394A>G (p.Glu465Gly)
gnomAD v4
6g.107634685A>TCA365171393SOBPc.1841A>T (p.Glu614Val)
c.1994A>T (p.Glu665Val)
c.1898A>T (p.Glu633Val)
c.1880A>T (p.Glu627Val)
c.1253A>T (p.Glu418Val)
c.1064A>T (p.Glu355Val)
c.1394A>T (p.Glu465Val)
6g.107634686G>ACA451581538SOBPc.1842G>A (p.Glu614=)
c.1995G>A (p.Glu665=)
c.1899G>A (p.Glu633=)
c.1881G>A (p.Glu627=)
c.1254G>A (p.Glu418=)
c.1065G>A (p.Glu355=)
c.1395G>A (p.Glu465=)
dbSNP gnomAD v3 gnomAD v4
6g.107634686G>CCA365171395SOBPc.1842G>C (p.Glu614Asp)
c.1995G>C (p.Glu665Asp)
c.1899G>C (p.Glu633Asp)
c.1881G>C (p.Glu627Asp)
c.1254G>C (p.Glu418Asp)
c.1065G>C (p.Glu355Asp)
c.1395G>C (p.Glu465Asp)
6g.107634686G=CA1653939097SOBPc.1842G= (p.Glu614=)
c.1995G= (p.Glu665=)
c.1899G= (p.Glu633=)
c.1881G= (p.Glu627=)
c.1254G= (p.Glu418=)
c.1065G= (p.Glu355=)
c.1395G= (p.Glu465=)
6g.107634686G>TCA365171396SOBPc.1842G>T (p.Glu614Asp)
c.1995G>T (p.Glu665Asp)
c.1899G>T (p.Glu633Asp)
c.1881G>T (p.Glu627Asp)
c.1254G>T (p.Glu418Asp)
c.1065G>T (p.Glu355Asp)
c.1395G>T (p.Glu465Asp)
gnomAD v4
6g.107634687C>ACA365171397SOBPc.1843C>A (p.His615Asn)
c.1996C>A (p.His666Asn)
c.1900C>A (p.His634Asn)
c.1882C>A (p.His628Asn)
c.1255C>A (p.His419Asn)
c.1066C>A (p.His356Asn)
c.1396C>A (p.His466Asn)
gnomAD v4
6g.107634687C>GCA365171398SOBPc.1843C>G (p.His615Asp)
c.1996C>G (p.His666Asp)
c.1900C>G (p.His634Asp)
c.1882C>G (p.His628Asp)
c.1255C>G (p.His419Asp)
c.1066C>G (p.His356Asp)
c.1396C>G (p.His466Asp)
6g.107634687C>TCA365171399SOBPc.1843C>T (p.His615Tyr)
c.1996C>T (p.His666Tyr)
c.1900C>T (p.His634Tyr)
c.1882C>T (p.His628Tyr)
c.1255C>T (p.His419Tyr)
c.1066C>T (p.His356Tyr)
c.1396C>T (p.His466Tyr)
gnomAD v4
6g.107634688A=CA1653939100SOBPc.1844A= (p.His615=)
c.1997A= (p.His666=)
c.1901A= (p.His634=)
c.1883A= (p.His628=)
c.1256A= (p.His419=)
c.1067A= (p.His356=)
c.1397A= (p.His466=)
6g.107634688A>CCA365171400SOBPc.1844A>C (p.His615Pro)
c.1997A>C (p.His666Pro)
c.1901A>C (p.His634Pro)
c.1883A>C (p.His628Pro)
c.1256A>C (p.His419Pro)
c.1067A>C (p.His356Pro)
c.1397A>C (p.His466Pro)
6g.107634688A>GCA365171402SOBPc.1844A>G (p.His615Arg)
c.1997A>G (p.His666Arg)
c.1901A>G (p.His634Arg)
c.1883A>G (p.His628Arg)
c.1256A>G (p.His419Arg)
c.1067A>G (p.His356Arg)
c.1397A>G (p.His466Arg)
dbSNP gnomAD v3 gnomAD v4
6g.107634688A>TCA365171401SOBPc.1844A>T (p.His615Leu)
c.1997A>T (p.His666Leu)
c.1901A>T (p.His634Leu)
c.1883A>T (p.His628Leu)
c.1256A>T (p.His419Leu)
c.1067A>T (p.His356Leu)
c.1397A>T (p.His466Leu)
6g.107634689T>ACA365171403SOBPc.1845T>A (p.His615Gln)
c.1998T>A (p.His666Gln)
c.1902T>A (p.His634Gln)
c.1884T>A (p.His628Gln)
c.1257T>A (p.His419Gln)
c.1068T>A (p.His356Gln)
c.1398T>A (p.His466Gln)
gnomAD v4
6g.107634689T>CCA451581552SOBPc.1845T>C (p.His615=)
c.1998T>C (p.His666=)
c.1902T>C (p.His634=)
c.1884T>C (p.His628=)
c.1257T>C (p.His419=)
c.1068T>C (p.His356=)
c.1398T>C (p.His466=)
dbSNP gnomAD v4
6g.107634689T>GCA365171404SOBPc.1845T>G (p.His615Gln)
c.1998T>G (p.His666Gln)
c.1902T>G (p.His634Gln)
c.1884T>G (p.His628Gln)
c.1257T>G (p.His419Gln)
c.1068T>G (p.His356Gln)
c.1398T>G (p.His466Gln)
6g.107634690G>ACA365171405SOBPc.1846G>A (p.Gly616Ser)
c.1999G>A (p.Gly667Ser)
c.1903G>A (p.Gly635Ser)
c.1885G>A (p.Gly629Ser)
c.1258G>A (p.Gly420Ser)
c.1069G>A (p.Gly357Ser)
c.1399G>A (p.Gly467Ser)
6g.107634690G>CCA365171406SOBPc.1846G>C (p.Gly616Arg)
c.1999G>C (p.Gly667Arg)
c.1903G>C (p.Gly635Arg)
c.1885G>C (p.Gly629Arg)
c.1258G>C (p.Gly420Arg)
c.1069G>C (p.Gly357Arg)
c.1399G>C (p.Gly467Arg)
6g.107634690G>TCA365171407SOBPc.1846G>T (p.Gly616Cys)
c.1999G>T (p.Gly667Cys)
c.1903G>T (p.Gly635Cys)
c.1885G>T (p.Gly629Cys)
c.1258G>T (p.Gly420Cys)
c.1069G>T (p.Gly357Cys)
c.1399G>T (p.Gly467Cys)
6g.107634691G>ACA365171408SOBPc.1847G>A (p.Gly616Asp)
c.2000G>A (p.Gly667Asp)
c.1904G>A (p.Gly635Asp)
c.1886G>A (p.Gly629Asp)
c.1259G>A (p.Gly420Asp)
c.1070G>A (p.Gly357Asp)
c.1400G>A (p.Gly467Asp)
dbSNP gnomAD v3 gnomAD v4
6g.107634691G>CCA365171409SOBPc.1847G>C (p.Gly616Ala)
c.2000G>C (p.Gly667Ala)
c.1904G>C (p.Gly635Ala)
c.1886G>C (p.Gly629Ala)
c.1259G>C (p.Gly420Ala)
c.1070G>C (p.Gly357Ala)
c.1400G>C (p.Gly467Ala)
6g.107634691G=CA1653939103SOBPc.1847G= (p.Gly616=)
c.2000G= (p.Gly667=)
c.1904G= (p.Gly635=)
c.1886G= (p.Gly629=)
c.1259G= (p.Gly420=)
c.1070G= (p.Gly357=)
c.1400G= (p.Gly467=)
6g.107634691G>TCA365171410SOBPc.1847G>T (p.Gly616Val)
c.2000G>T (p.Gly667Val)
c.1904G>T (p.Gly635Val)
c.1886G>T (p.Gly629Val)
c.1259G>T (p.Gly420Val)
c.1070G>T (p.Gly357Val)
c.1400G>T (p.Gly467Val)
gnomAD v4
6g.107634692C>ACA451581560SOBPc.1848C>A (p.Gly616=)
c.2001C>A (p.Gly667=)
c.1905C>A (p.Gly635=)
c.1887C>A (p.Gly629=)
c.1260C>A (p.Gly420=)
c.1071C>A (p.Gly357=)
c.1401C>A (p.Gly467=)
gnomAD v4
6g.107634692C>GCA451581563SOBPc.1848C>G (p.Gly616=)
c.2001C>G (p.Gly667=)
c.1905C>G (p.Gly635=)
c.1887C>G (p.Gly629=)
c.1260C>G (p.Gly420=)
c.1071C>G (p.Gly357=)
c.1401C>G (p.Gly467=)
gnomAD v4
6g.107634692C>TCA451581565SOBPc.1848C>T (p.Gly616=)
c.2001C>T (p.Gly667=)
c.1905C>T (p.Gly635=)
c.1887C>T (p.Gly629=)
c.1260C>T (p.Gly420=)
c.1071C>T (p.Gly357=)
c.1401C>T (p.Gly467=)
gnomAD v4
6g.107634693C>ACA451581569SOBPc.1849C>A (p.Arg617=)
c.2002C>A (p.Arg668=)
c.1906C>A (p.Arg636=)
c.1888C>A (p.Arg630=)
c.1261C>A (p.Arg421=)
c.1072C>A (p.Arg358=)
c.1402C>A (p.Arg468=)
gnomAD v4
6g.107634693C=CA1653939106SOBPc.1849C= (p.Arg617=)
c.2002C= (p.Arg668=)
c.1906C= (p.Arg636=)
c.1888C= (p.Arg630=)
c.1261C= (p.Arg421=)
c.1072C= (p.Arg358=)
c.1402C= (p.Arg468=)
6g.107634693C>GCA365171411SOBPc.1849C>G (p.Arg617Gly)
c.2002C>G (p.Arg668Gly)
c.1906C>G (p.Arg636Gly)
c.1888C>G (p.Arg630Gly)
c.1261C>G (p.Arg421Gly)
c.1072C>G (p.Arg358Gly)
c.1402C>G (p.Arg468Gly)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.107634693C>TCA365171412SOBPc.1849C>T (p.Arg617Trp)
c.2002C>T (p.Arg668Trp)
c.1906C>T (p.Arg636Trp)
c.1888C>T (p.Arg630Trp)
c.1261C>T (p.Arg421Trp)
c.1072C>T (p.Arg358Trp)
c.1402C>T (p.Arg468Trp)
gnomAD v4
6g.107634694G>ACA3946601SOBPc.1850G>A (p.Arg617Gln)
c.2003G>A (p.Arg668Gln)
c.1907G>A (p.Arg636Gln)
c.1889G>A (p.Arg630Gln)
c.1262G>A (p.Arg421Gln)
c.1073G>A (p.Arg358Gln)
c.1403G>A (p.Arg468Gln)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.107634694G>CCA365171414SOBPc.1850G>C (p.Arg617Pro)
c.2003G>C (p.Arg668Pro)
c.1907G>C (p.Arg636Pro)
c.1889G>C (p.Arg630Pro)
c.1262G>C (p.Arg421Pro)
c.1073G>C (p.Arg358Pro)
c.1403G>C (p.Arg468Pro)
gnomAD v4
6g.107634694G=CA1653939109SOBPc.1850G= (p.Arg617=)
c.2003G= (p.Arg668=)
c.1907G= (p.Arg636=)
c.1889G= (p.Arg630=)
c.1262G= (p.Arg421=)
c.1073G= (p.Arg358=)
c.1403G= (p.Arg468=)
6g.107634694G>TCA365171413SOBPc.1850G>T (p.Arg617Leu)
c.2003G>T (p.Arg668Leu)
c.1907G>T (p.Arg636Leu)
c.1889G>T (p.Arg630Leu)
c.1262G>T (p.Arg421Leu)
c.1073G>T (p.Arg358Leu)
c.1403G>T (p.Arg468Leu)
dbSNP gnomAD v3 gnomAD v4
6g.107634695G>ACA451581572SOBPc.1851G>A (p.Arg617=)
c.2004G>A (p.Arg668=)
c.1908G>A (p.Arg636=)
c.1890G>A (p.Arg630=)
c.1263G>A (p.Arg421=)
c.1074G>A (p.Arg358=)
c.1404G>A (p.Arg468=)
dbSNP gnomAD v3 gnomAD v4
6g.107634695G>CCA451581575SOBPc.1851G>C (p.Arg617=)
c.2004G>C (p.Arg668=)
c.1908G>C (p.Arg636=)
c.1890G>C (p.Arg630=)
c.1263G>C (p.Arg421=)
c.1074G>C (p.Arg358=)
c.1404G>C (p.Arg468=)
6g.107634695G=CA1653939113SOBPc.1851G= (p.Arg617=)
c.2004G= (p.Arg668=)
c.1908G= (p.Arg636=)
c.1890G= (p.Arg630=)
c.1263G= (p.Arg421=)
c.1074G= (p.Arg358=)
c.1404G= (p.Arg468=)
6g.107634695G>TCA3946602SOBPc.1851G>T (p.Arg617=)
c.2004G>T (p.Arg668=)
c.1908G>T (p.Arg636=)
c.1890G>T (p.Arg630=)
c.1263G>T (p.Arg421=)
c.1074G>T (p.Arg358=)
c.1404G>T (p.Arg468=)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.107634696A=CA1653939115SOBPc.1852A= (p.Ser618=)
c.2005A= (p.Ser669=)
c.1909A= (p.Ser637=)
c.1891A= (p.Ser631=)
c.1264A= (p.Ser422=)
c.1075A= (p.Ser359=)
c.1405A= (p.Ser469=)
6g.107634696A>CCA365171417SOBPc.1852A>C (p.Ser618Arg)
c.2005A>C (p.Ser669Arg)
c.1909A>C (p.Ser637Arg)
c.1891A>C (p.Ser631Arg)
c.1264A>C (p.Ser422Arg)
c.1075A>C (p.Ser359Arg)
c.1405A>C (p.Ser469Arg)
6g.107634696A>GCA365171415SOBPc.1852A>G (p.Ser618Gly)
c.2005A>G (p.Ser669Gly)
c.1909A>G (p.Ser637Gly)
c.1891A>G (p.Ser631Gly)
c.1264A>G (p.Ser422Gly)
c.1075A>G (p.Ser359Gly)
c.1405A>G (p.Ser469Gly)
dbSNP gnomAD v4
6g.107634696A>TCA365171416SOBPc.1852A>T (p.Ser618Cys)
c.2005A>T (p.Ser669Cys)
c.1909A>T (p.Ser637Cys)
c.1891A>T (p.Ser631Cys)
c.1264A>T (p.Ser422Cys)
c.1075A>T (p.Ser359Cys)
c.1405A>T (p.Ser469Cys)
6g.107634697G>ACA365171418SOBPc.1853G>A (p.Ser618Asn)
c.2006G>A (p.Ser669Asn)
c.1910G>A (p.Ser637Asn)
c.1892G>A (p.Ser631Asn)
c.1265G>A (p.Ser422Asn)
c.1076G>A (p.Ser359Asn)
c.1406G>A (p.Ser469Asn)
gnomAD v4
6g.107634697G>CCA365171419SOBPc.1853G>C (p.Ser618Thr)
c.2006G>C (p.Ser669Thr)
c.1910G>C (p.Ser637Thr)
c.1892G>C (p.Ser631Thr)
c.1265G>C (p.Ser422Thr)
c.1076G>C (p.Ser359Thr)
c.1406G>C (p.Ser469Thr)
6g.107634697G>TCA365171420SOBPc.1853G>T (p.Ser618Ile)
c.2006G>T (p.Ser669Ile)
c.1910G>T (p.Ser637Ile)
c.1892G>T (p.Ser631Ile)
c.1265G>T (p.Ser422Ile)
c.1076G>T (p.Ser359Ile)
c.1406G>T (p.Ser469Ile)
gnomAD v4
6g.107634698C>ACA365171421SOBPc.1854C>A (p.Ser618Arg)
c.2007C>A (p.Ser669Arg)
c.1911C>A (p.Ser637Arg)
c.1893C>A (p.Ser631Arg)
c.1266C>A (p.Ser422Arg)
c.1077C>A (p.Ser359Arg)
c.1407C>A (p.Ser469Arg)
dbSNP
6g.107634698C=CA1653939117SOBPc.1854C= (p.Ser618=)
c.2007C= (p.Ser669=)
c.1911C= (p.Ser637=)
c.1893C= (p.Ser631=)
c.1266C= (p.Ser422=)
c.1077C= (p.Ser359=)
c.1407C= (p.Ser469=)
6g.107634698C>GCA365171422SOBPc.1854C>G (p.Ser618Arg)
c.2007C>G (p.Ser669Arg)
c.1911C>G (p.Ser637Arg)
c.1893C>G (p.Ser631Arg)
c.1266C>G (p.Ser422Arg)
c.1077C>G (p.Ser359Arg)
c.1407C>G (p.Ser469Arg)
6g.107634698C>TCA451581585SOBPc.1854C>T (p.Ser618=)
c.2007C>T (p.Ser669=)
c.1911C>T (p.Ser637=)
c.1893C>T (p.Ser631=)
c.1266C>T (p.Ser422=)
c.1077C>T (p.Ser359=)
c.1407C>T (p.Ser469=)
gnomAD v4
6g.107634699G>ACA145013812SOBPc.1855G>A (p.Glu619Lys)
c.2008G>A (p.Glu670Lys)
c.1912G>A (p.Glu638Lys)
c.1894G>A (p.Glu632Lys)
c.1267G>A (p.Glu423Lys)
c.1078G>A (p.Glu360Lys)
c.1408G>A (p.Glu470Lys)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.107634699G>CCA365171423SOBPc.1855G>C (p.Glu619Gln)
c.2008G>C (p.Glu670Gln)
c.1912G>C (p.Glu638Gln)
c.1894G>C (p.Glu632Gln)
c.1267G>C (p.Glu423Gln)
c.1078G>C (p.Glu360Gln)
c.1408G>C (p.Glu470Gln)
6g.107634699G=CA1653939119SOBPc.1855G= (p.Glu619=)
c.2008G= (p.Glu670=)
c.1912G= (p.Glu638=)
c.1894G= (p.Glu632=)
c.1267G= (p.Glu423=)
c.1078G= (p.Glu360=)
c.1408G= (p.Glu470=)
6g.107634699G>TCA365171424SOBPc.1855G>T (p.Glu619Ter)
c.2008G>T (p.Glu670Ter)
c.1912G>T (p.Glu638Ter)
c.1894G>T (p.Glu632Ter)
c.1267G>T (p.Glu423Ter)
c.1078G>T (p.Glu360Ter)
c.1408G>T (p.Glu470Ter)
gnomAD v4
6g.107634700A>CCA365171427SOBPc.1856A>C (p.Glu619Ala)
c.2009A>C (p.Glu670Ala)
c.1913A>C (p.Glu638Ala)
c.1895A>C (p.Glu632Ala)
c.1268A>C (p.Glu423Ala)
c.1079A>C (p.Glu360Ala)
c.1409A>C (p.Glu470Ala)
6g.107634700A>GCA365171426SOBPc.1856A>G (p.Glu619Gly)
c.2009A>G (p.Glu670Gly)
c.1913A>G (p.Glu638Gly)
c.1895A>G (p.Glu632Gly)
c.1268A>G (p.Glu423Gly)
c.1079A>G (p.Glu360Gly)
c.1409A>G (p.Glu470Gly)
6g.107634700A>TCA365171425SOBPc.1856A>T (p.Glu619Val)
c.2009A>T (p.Glu670Val)
c.1913A>T (p.Glu638Val)
c.1895A>T (p.Glu632Val)
c.1268A>T (p.Glu423Val)
c.1079A>T (p.Glu360Val)
c.1409A>T (p.Glu470Val)
6g.107634701G>ACA451581591SOBPc.1857G>A (p.Glu619=)
c.2010G>A (p.Glu670=)
c.1914G>A (p.Glu638=)
c.1896G>A (p.Glu632=)
c.1269G>A (p.Glu423=)
c.1080G>A (p.Glu360=)
c.1410G>A (p.Glu470=)
gnomAD v4
6g.107634701G>CCA365171428SOBPc.1857G>C (p.Glu619Asp)
c.2010G>C (p.Glu670Asp)
c.1914G>C (p.Glu638Asp)
c.1896G>C (p.Glu632Asp)
c.1269G>C (p.Glu423Asp)
c.1080G>C (p.Glu360Asp)
c.1410G>C (p.Glu470Asp)
6g.107634701G>TCA365171429SOBPc.1857G>T (p.Glu619Asp)
c.2010G>T (p.Glu670Asp)
c.1914G>T (p.Glu638Asp)
c.1896G>T (p.Glu632Asp)
c.1269G>T (p.Glu423Asp)
c.1080G>T (p.Glu360Asp)
c.1410G>T (p.Glu470Asp)
gnomAD v4
6g.107634702G>ACA365171430SOBPc.1858G>A (p.Val620Met)
c.2011G>A (p.Val671Met)
c.1915G>A (p.Val639Met)
c.1897G>A (p.Val633Met)
c.1270G>A (p.Val424Met)
c.1081G>A (p.Val361Met)
c.1411G>A (p.Val471Met)
dbSNP gnomAD v2 gnomAD v4
6g.107634702G>CCA365171431SOBPc.1858G>C (p.Val620Leu)
c.2011G>C (p.Val671Leu)
c.1915G>C (p.Val639Leu)
c.1897G>C (p.Val633Leu)
c.1270G>C (p.Val424Leu)
c.1081G>C (p.Val361Leu)
c.1411G>C (p.Val471Leu)
6g.107634702G=CA1653939121SOBPc.1858G= (p.Val620=)
c.2011G= (p.Val671=)
c.1915G= (p.Val639=)
c.1897G= (p.Val633=)
c.1270G= (p.Val424=)
c.1081G= (p.Val361=)
c.1411G= (p.Val471=)
6g.107634702G>TCA365171432SOBPc.1858G>T (p.Val620Leu)
c.2011G>T (p.Val671Leu)
c.1915G>T (p.Val639Leu)
c.1897G>T (p.Val633Leu)
c.1270G>T (p.Val424Leu)
c.1081G>T (p.Val361Leu)
c.1411G>T (p.Val471Leu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched