Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.92718935_92718952dupCA196340315BICD2c.1704_1721dup (p.Ser574_Pro575insProGlyGlyArgThrSer)
c.1785_1802dup (p.Ser601_Pro602insProGlyGlyArgThrSer)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.92718935_92718952delCA868524750BICD2c.1704_1721del (p.Pro569_Ser574del)
c.1785_1802del (p.Pro596_Ser601del)
ClinVar dbSNP gnomAD v3 gnomAD v4
9g.92718951_92718974delCA2739269405BICD2c.1675_1698del (p.Glu559_Arg566del)
c.1756_1779del (p.Glu586_Arg593del)
ClinVar
9g.92718948C>ACA5126508BICD2c.1697G>T (p.Arg566Leu)
c.1778G>T (p.Arg593Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.92718948C=CA1864361337BICD2c.1697G= (p.Arg566=)
c.1778G= (p.Arg593=)
9g.92718948C>GCA374036302BICD2c.1697G>C (p.Arg566Pro)
c.1778G>C (p.Arg593Pro)
9g.92718948C>TCA5126509BICD2c.1697G>A (p.Arg566His)
c.1778G>A (p.Arg593His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.92718949G>ACA5126510BICD2c.1696C>T (p.Arg566Cys)
c.1777C>T (p.Arg593Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
9g.92718949G>CCA374036306BICD2c.1696C>G (p.Arg566Gly)
c.1777C>G (p.Arg593Gly)
9g.92718949G=CA1864361344BICD2c.1696C= (p.Arg566=)
c.1777C= (p.Arg593=)
9g.92718949G>TCA374036308BICD2c.1696C>A (p.Arg566Ser)
c.1777C>A (p.Arg593Ser)
9g.92718950G>ACA466343097BICD2c.1695C>T (p.Gly565=)
c.1776C>T (p.Gly592=)
gnomAD v4
9g.92718950G>CCA466343098BICD2c.1695C>G (p.Gly565=)
c.1776C>G (p.Gly592=)
gnomAD v4
9g.92718950G>TCA466343096BICD2c.1695C>A (p.Gly565=)
c.1776C>A (p.Gly592=)
gnomAD v4
9g.92718951C>ACA374036312BICD2c.1694G>T (p.Gly565Val)
c.1775G>T (p.Gly592Val)
9g.92718951C>GCA374036314BICD2c.1694G>C (p.Gly565Ala)
c.1775G>C (p.Gly592Ala)
9g.92718951C>TCA374036310BICD2c.1694G>A (p.Gly565Asp)
c.1775G>A (p.Gly592Asp)
gnomAD v4
9g.92718952C>ACA374036316BICD2c.1693G>T (p.Gly565Cys)
c.1774G>T (p.Gly592Cys)
9g.92718952C=CA1864361349BICD2c.1693G= (p.Gly565=)
c.1774G= (p.Gly592=)
9g.92718952C>GCA374036318BICD2c.1693G>C (p.Gly565Arg)
c.1774G>C (p.Gly592Arg)
9g.92718952C>TCA374036319BICD2c.1693G>A (p.Gly565Ser)
c.1774G>A (p.Gly592Ser)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.92718953G>ACA5126511BICD2c.1692C>T (p.Ala564=)
c.1773C>T (p.Ala591=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.92718953G>CCA466343105BICD2c.1692C>G (p.Ala564=)
c.1773C>G (p.Ala591=)
gnomAD v4
9g.92718953G=CA1864361353BICD2c.1692C= (p.Ala564=)
c.1773C= (p.Ala591=)
9g.92718953G>TCA466343107BICD2c.1692C>A (p.Ala564=)
c.1773C>A (p.Ala591=)
9g.92718954G>ACA374036327BICD2c.1691C>T (p.Ala564Val)
c.1772C>T (p.Ala591Val)
9g.92718954G>CCA374036325BICD2c.1691C>G (p.Ala564Gly)
c.1772C>G (p.Ala591Gly)
9g.92718954G>TCA374036324BICD2c.1691C>A (p.Ala564Asp)
c.1772C>A (p.Ala591Asp)
9g.92718955C>ACA374036329BICD2c.1690G>T (p.Ala564Ser)
c.1771G>T (p.Ala591Ser)
9g.92718955C>GCA374036331BICD2c.1690G>C (p.Ala564Pro)
c.1771G>C (p.Ala591Pro)
9g.92718955C>TCA374036333BICD2c.1690G>A (p.Ala564Thr)
c.1771G>A (p.Ala591Thr)
9g.92718958delCA2690686267BICD2c.1690del (p.Ala564ProfsTer?)
c.1771del (p.Ala591ProfsTer?)
gnomAD v4
9g.92718956C>ACA466343110BICD2c.1689G>T (p.Gly563=)
c.1770G>T (p.Gly590=)
gnomAD v4
9g.92718956C>GCA466343112BICD2c.1689G>C (p.Gly563=)
c.1770G>C (p.Gly590=)
9g.92718956C>TCA466343111BICD2c.1689G>A (p.Gly563=)
c.1770G>A (p.Gly590=)
9g.92718957C>ACA374036334BICD2c.1688G>T (p.Gly563Val)
c.1769G>T (p.Gly590Val)
9g.92718957C=CA1864361356BICD2c.1688G= (p.Gly563=)
c.1769G= (p.Gly590=)
9g.92718957C>GCA374036335BICD2c.1688G>C (p.Gly563Ala)
c.1769G>C (p.Gly590Ala)
9g.92718957C>TCA374036337BICD2c.1688G>A (p.Gly563Glu)
c.1769G>A (p.Gly590Glu)
ClinVar dbSNP
9g.92718958C>ACA374036340BICD2c.1687G>T (p.Gly563Trp)
c.1768G>T (p.Gly590Trp)
9g.92718958C=CA1864361360BICD2c.1687G= (p.Gly563=)
c.1768G= (p.Gly590=)
9g.92718958C>GCA374036339BICD2c.1687G>C (p.Gly563Arg)
c.1768G>C (p.Gly590Arg)
9g.92718958C>TCA196340391BICD2c.1687G>A (p.Gly563Arg)
c.1768G>A (p.Gly590Arg)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.92718959G>ACA5126512BICD2c.1686C>T (p.Gly562=)
c.1767C>T (p.Gly589=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.92718959G>CCA466343115BICD2c.1686C>G (p.Gly562=)
c.1767C>G (p.Gly589=)
9g.92718959G=CA1864361367BICD2c.1686C= (p.Gly562=)
c.1767C= (p.Gly589=)
9g.92718959G>TCA466343116BICD2c.1686C>A (p.Gly562=)
c.1767C>A (p.Gly589=)
9g.92718960C>ACA374036347BICD2c.1685G>T (p.Gly562Val)
c.1766G>T (p.Gly589Val)
9g.92718960C>GCA374036343BICD2c.1685G>C (p.Gly562Ala)
c.1766G>C (p.Gly589Ala)
9g.92718960C>TCA374036345BICD2c.1685G>A (p.Gly562Asp)
c.1766G>A (p.Gly589Asp)
9g.92718961C>ACA374036349BICD2c.1684G>T (p.Gly562Cys)
c.1765G>T (p.Gly589Cys)
9g.92718961C>GCA374036350BICD2c.1684G>C (p.Gly562Arg)
c.1765G>C (p.Gly589Arg)
9g.92718961C>TCA374036352BICD2c.1684G>A (p.Gly562Ser)
c.1765G>A (p.Gly589Ser)
COSMIC COSMIC
9g.92718961_92718964dupCA2690686268BICD2c.1681_1684dup (p.Gly562AlafsTer?)
c.1762_1765dup (p.Gly589AlafsTer?)
gnomAD v4
9g.92718962C>ACA374036355BICD2c.1683G>T (p.Gln561His)
c.1764G>T (p.Gln588His)
9g.92718962C=CA1864361370BICD2c.1683G= (p.Gln561=)
c.1764G= (p.Gln588=)
9g.92718962C>GCA374036357BICD2c.1683G>C (p.Gln561His)
c.1764G>C (p.Gln588His)
9g.92718962C>TCA5126513BICD2c.1683G>A (p.Gln561=)
c.1764G>A (p.Gln588=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.92718963T>ACA374036361BICD2c.1682A>T (p.Gln561Leu)
c.1763A>T (p.Gln588Leu)
9g.92718963T>CCA374036363BICD2c.1682A>G (p.Gln561Arg)
c.1763A>G (p.Gln588Arg)
9g.92718963T>GCA374036365BICD2c.1682A>C (p.Gln561Pro)
c.1763A>C (p.Gln588Pro)
9g.92718964G>ACA374036367BICD2c.1681C>T (p.Gln561Ter)
c.1762C>T (p.Gln588Ter)
gnomAD v4
9g.92718964G>CCA374036368BICD2c.1681C>G (p.Gln561Glu)
c.1762C>G (p.Gln588Glu)
9g.92718964G>TCA374036370BICD2c.1681C>A (p.Gln561Lys)
c.1762C>A (p.Gln588Lys)
9g.92718965G>ACA5126514BICD2c.1680C>T (p.Gly560=)
c.1761C>T (p.Gly587=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.92718965G>CCA466343123BICD2c.1680C>G (p.Gly560=)
c.1761C>G (p.Gly587=)
gnomAD v4
9g.92718965G=CA1864361375BICD2c.1680C= (p.Gly560=)
c.1761C= (p.Gly587=)
9g.92718965G>TCA466343124BICD2c.1680C>A (p.Gly560=)
c.1761C>A (p.Gly587=)
gnomAD v4
9g.92718966C>ACA374036374BICD2c.1679G>T (p.Gly560Val)
c.1760G>T (p.Gly587Val)
gnomAD v4
9g.92718966C=CA1864361381BICD2c.1679G= (p.Gly560=)
c.1760G= (p.Gly587=)
9g.92718966C>GCA374036375BICD2c.1679G>C (p.Gly560Ala)
c.1760G>C (p.Gly587Ala)
9g.92718966C>TCA5126515BICD2c.1679G>A (p.Gly560Asp)
c.1760G>A (p.Gly587Asp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.92718967C>ACA374036377BICD2c.1678G>T (p.Gly560Cys)
c.1759G>T (p.Gly587Cys)
9g.92718967C>GCA374036379BICD2c.1678G>C (p.Gly560Arg)
c.1759G>C (p.Gly587Arg)
9g.92718967C>TCA374036381BICD2c.1678G>A (p.Gly560Ser)
c.1759G>A (p.Gly587Ser)
gnomAD v4
9g.92718968C>ACA374036383BICD2c.1677G>T (p.Glu559Asp)
c.1758G>T (p.Glu586Asp)
9g.92718968C>GCA374036384BICD2c.1677G>C (p.Glu559Asp)
c.1758G>C (p.Glu586Asp)
9g.92718968C>TCA466343130BICD2c.1677G>A (p.Glu559=)
c.1758G>A (p.Glu586=)
9g.92718969T>ACA374036387BICD2c.1676A>T (p.Glu559Val)
c.1757A>T (p.Glu586Val)
9g.92718969T>CCA374036389BICD2c.1676A>G (p.Glu559Gly)
c.1757A>G (p.Glu586Gly)
dbSNP
9g.92718969T>GCA374036391BICD2c.1676A>C (p.Glu559Ala)
c.1757A>C (p.Glu586Ala)
9g.92718969T=CA1864361384BICD2c.1676A= (p.Glu559=)
c.1757A= (p.Glu586=)
9g.92718970C>ACA374036393BICD2c.1675G>T (p.Glu559Ter)
c.1756G>T (p.Glu586Ter)
9g.92718970C=CA1864361386BICD2c.1675G= (p.Glu559=)
c.1756G= (p.Glu586=)
9g.92718970C>GCA374036395BICD2c.1675G>C (p.Glu559Gln)
c.1756G>C (p.Glu586Gln)
gnomAD v4
9g.92718970C>TCA5126516BICD2c.1675G>A (p.Glu559Lys)
c.1756G>A (p.Glu586Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.92718971G>ACA5126517BICD2c.1674C>T (p.Arg558=)
c.1755C>T (p.Arg585=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.92718971G>CCA466343135BICD2c.1674C>G (p.Arg558=)
c.1755C>G (p.Arg585=)
9g.92718971G=CA1864361391BICD2c.1674C= (p.Arg558=)
c.1755C= (p.Arg585=)
9g.92718971G>TCA5126518BICD2c.1674C>A (p.Arg558=)
c.1755C>A (p.Arg585=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.92718972C>ACA374036398BICD2c.1673G>T (p.Arg558Leu)
c.1754G>T (p.Arg585Leu)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.92718972C=CA1864361402BICD2c.1673G= (p.Arg558=)
c.1754G= (p.Arg585=)
9g.92718972C>GCA374036401BICD2c.1673G>C (p.Arg558Pro)
c.1754G>C (p.Arg585Pro)
ClinVar dbSNP
9g.92718972C>TCA374036403BICD2c.1673G>A (p.Arg558His)
c.1754G>A (p.Arg585His)
dbSNP gnomAD v2 gnomAD v4
9g.92718973G>ACA374036405BICD2c.1672C>T (p.Arg558Cys)
c.1753C>T (p.Arg585Cys)
ClinVar dbSNP gnomAD v4
9g.92718973G>CCA374036407BICD2c.1672C>G (p.Arg558Gly)
c.1753C>G (p.Arg585Gly)
9g.92718973G=CA1864361406BICD2c.1672C= (p.Arg558=)
c.1753C= (p.Arg585=)
9g.92718973G>TCA374036409BICD2c.1672C>A (p.Arg558Ser)
c.1753C>A (p.Arg585Ser)
dbSNP gnomAD v4
9g.92718974G>ACA466343140BICD2c.1671C>T (p.Tyr557=)
c.1752C>T (p.Tyr584=)
9g.92718974G>CCA5126519BICD2c.1671C>G (p.Tyr557Ter)
c.1752C>G (p.Tyr584Ter)
dbSNP ExAC gnomAD v2 gnomAD v4
9g.92718974G=CA1864361410BICD2c.1671C= (p.Tyr557=)
c.1752C= (p.Tyr584=)
9g.92718974G>TCA374036412BICD2c.1671C>A (p.Tyr557Ter)
c.1752C>A (p.Tyr584Ter)
9g.92718975T>ACA374036414BICD2c.1670A>T (p.Tyr557Phe)
c.1751A>T (p.Tyr584Phe)
9g.92718975T>CCA374036416BICD2c.1670A>G (p.Tyr557Cys)
c.1751A>G (p.Tyr584Cys)
9g.92718975T>GCA374036418BICD2c.1670A>C (p.Tyr557Ser)
c.1751A>C (p.Tyr584Ser)
9g.92718976A>CCA374036420BICD2c.1669T>G (p.Tyr557Asp)
c.1750T>G (p.Tyr584Asp)
9g.92718976A>GCA374036422BICD2c.1669T>C (p.Tyr557His)
c.1750T>C (p.Tyr584His)
9g.92718976A>TCA374036424BICD2c.1669T>A (p.Tyr557Asn)
c.1750T>A (p.Tyr584Asn)
9g.92718977G>ACA466343145BICD2c.1668C>T (p.Tyr556=)
c.1749C>T (p.Tyr583=)
9g.92718977G>CCA374036427BICD2c.1668C>G (p.Tyr556Ter)
c.1749C>G (p.Tyr583Ter)
9g.92718977G>TCA374036426BICD2c.1668C>A (p.Tyr556Ter)
c.1749C>A (p.Tyr583Ter)
9g.92718978T>ACA374036429BICD2c.1667A>T (p.Tyr556Phe)
c.1748A>T (p.Tyr583Phe)
9g.92718978T>CCA374036430BICD2c.1667A>G (p.Tyr556Cys)
c.1748A>G (p.Tyr583Cys)
ClinVar dbSNP
9g.92718978T>GCA374036431BICD2c.1667A>C (p.Tyr556Ser)
c.1748A>C (p.Tyr583Ser)
ClinVar dbSNP
9g.92718978T=CA1864361422BICD2c.1667A= (p.Tyr556=)
c.1748A= (p.Tyr583=)
9g.92718979A>CCA374036433BICD2c.1666T>G (p.Tyr556Asp)
c.1747T>G (p.Tyr583Asp)
9g.92718979A>GCA374036435BICD2c.1666T>C (p.Tyr556His)
c.1747T>C (p.Tyr583His)
9g.92718979A>TCA374036437BICD2c.1666T>A (p.Tyr556Asn)
c.1747T>A (p.Tyr583Asn)
9g.92718980G>ACA466343153BICD2c.1665C>T (p.Asp555=)
c.1746C>T (p.Asp582=)
9g.92718980G>CCA374036440BICD2c.1665C>G (p.Asp555Glu)
c.1746C>G (p.Asp582Glu)
9g.92718980G>TCA374036438BICD2c.1665C>A (p.Asp555Glu)
c.1746C>A (p.Asp582Glu)
9g.92718981T>ACA374036443BICD2c.1664A>T (p.Asp555Val)
c.1745A>T (p.Asp582Val)
9g.92718981T>CCA374036445BICD2c.1664A>G (p.Asp555Gly)
c.1745A>G (p.Asp582Gly)
9g.92718981T>GCA374036447BICD2c.1664A>C (p.Asp555Ala)
c.1745A>C (p.Asp582Ala)
9g.92718982C>ACA374036450BICD2c.1663G>T (p.Asp555Tyr)
c.1744G>T (p.Asp582Tyr)
gnomAD v4
9g.92718982C>GCA374036453BICD2c.1663G>C (p.Asp555His)
c.1744G>C (p.Asp582His)
9g.92718982C>TCA374036455BICD2c.1663G>A (p.Asp555Asn)
c.1744G>A (p.Asp582Asn)
9g.92718983C>ACA466343154BICD2c.1662G>T (p.Leu554=)
c.1743G>T (p.Leu581=)
9g.92718983C=CA1864361424BICD2c.1662G= (p.Leu554=)
c.1743G= (p.Leu581=)
9g.92718983C>GCA466343155BICD2c.1662G>C (p.Leu554=)
c.1743G>C (p.Leu581=)
9g.92718983C>TCA466343156BICD2c.1662G>A (p.Leu554=)
c.1743G>A (p.Leu581=)
dbSNP gnomAD v2 gnomAD v4
9g.92718984A>CCA374036464BICD2c.1661T>G (p.Leu554Arg)
c.1742T>G (p.Leu581Arg)
9g.92718984A>GCA374036458BICD2c.1661T>C (p.Leu554Pro)
c.1742T>C (p.Leu581Pro)
9g.92718984A>TCA374036461BICD2c.1661T>A (p.Leu554Gln)
c.1742T>A (p.Leu581Gln)
9g.92718985G>ACA466343159BICD2c.1660C>T (p.Leu554=)
c.1741C>T (p.Leu581=)
9g.92718985G>CCA374036466BICD2c.1660C>G (p.Leu554Val)
c.1741C>G (p.Leu581Val)
9g.92718985G>TCA374036468BICD2c.1660C>A (p.Leu554Met)
c.1741C>A (p.Leu581Met)
gnomAD v4
9g.92718986C>ACA374036471BICD2c.1659G>T (p.Met553Ile)
c.1740G>T (p.Met580Ile)
9g.92718986C=CA1864361431BICD2c.1659G= (p.Met553=)
c.1740G= (p.Met580=)
9g.92718986C>GCA374036473BICD2c.1659G>C (p.Met553Ile)
c.1740G>C (p.Met580Ile)
9g.92718986C>TCA5126520BICD2c.1659G>A (p.Met553Ile)
c.1740G>A (p.Met580Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.92718987A>CCA374036479BICD2c.1658T>G (p.Met553Arg)
c.1739T>G (p.Met580Arg)
ClinVar
9g.92718987A>GCA374036482BICD2c.1658T>C (p.Met553Thr)
c.1739T>C (p.Met580Thr)
9g.92718987A>TCA374036485BICD2c.1658T>A (p.Met553Lys)
c.1739T>A (p.Met580Lys)
9g.92718988T>ACA374036488BICD2c.1657A>T (p.Met553Leu)
c.1738A>T (p.Met580Leu)
9g.92718988T>CCA374036490BICD2c.1657A>G (p.Met553Val)
c.1738A>G (p.Met580Val)
dbSNP gnomAD v3 gnomAD v4
9g.92718988T>GCA374036493BICD2c.1657A>C (p.Met553Leu)
c.1738A>C (p.Met580Leu)
9g.92718988T=CA1864361434BICD2c.1657A= (p.Met553=)
c.1738A= (p.Met580=)
9g.92718989G>ACA466343167BICD2c.1656C>T (p.Val552=)
c.1737C>T (p.Val579=)
9g.92718989G>CCA466343166BICD2c.1656C>G (p.Val552=)
c.1737C>G (p.Val579=)
9g.92718989G>TCA466343164BICD2c.1656C>A (p.Val552=)
c.1737C>A (p.Val579=)
gnomAD v4
9g.92718990A>CCA374036496BICD2c.1655T>G (p.Val552Gly)
c.1736T>G (p.Val579Gly)
9g.92718990A>GCA374036499BICD2c.1655T>C (p.Val552Ala)
c.1736T>C (p.Val579Ala)
ClinVar
9g.92718990A>TCA374036500BICD2c.1655T>A (p.Val552Asp)
c.1736T>A (p.Val579Asp)
9g.92718991C>ACA374036511BICD2c.1654G>T (p.Val552Phe)
c.1735G>T (p.Val579Phe)
9g.92718991C>GCA374036508BICD2c.1654G>C (p.Val552Leu)
c.1735G>C (p.Val579Leu)
9g.92718991C>TCA374036505BICD2c.1654G>A (p.Val552Ile)
c.1735G>A (p.Val579Ile)
9g.92718992A>CCA466343174BICD2c.1653T>G (p.Arg551=)
c.1734T>G (p.Arg578=)
9g.92718992A>GCA466343175BICD2c.1653T>C (p.Arg551=)
c.1734T>C (p.Arg578=)
9g.92718992A>TCA466343176BICD2c.1653T>A (p.Arg551=)
c.1734T>A (p.Arg578=)
9g.92718993C>ACA374036514BICD2c.1652G>T (p.Arg551Leu)
c.1733G>T (p.Arg578Leu)
9g.92718993C>GCA374036516BICD2c.1652G>C (p.Arg551Pro)
c.1733G>C (p.Arg578Pro)
9g.92718993C>TCA374036518BICD2c.1652G>A (p.Arg551His)
c.1733G>A (p.Arg578His)
ClinVar dbSNP gnomAD v4
9g.92718994G>ACA374036523BICD2c.1651C>T (p.Arg551Cys)
c.1732C>T (p.Arg578Cys)
dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
9g.92718994G>CCA374036526BICD2c.1651C>G (p.Arg551Gly)
c.1732C>G (p.Arg578Gly)
9g.92718994G=CA1864361437BICD2c.1651C= (p.Arg551=)
c.1732C= (p.Arg578=)
9g.92718994G>TCA374036529BICD2c.1651C>A (p.Arg551Ser)
c.1732C>A (p.Arg578Ser)
9g.92718995G>ACA466343180BICD2c.1650C>T (p.Asn550=)
c.1731C>T (p.Asn577=)
9g.92718995G>CCA374036531BICD2c.1650C>G (p.Asn550Lys)
c.1731C>G (p.Asn577Lys)
9g.92718995G>TCA374036534BICD2c.1650C>A (p.Asn550Lys)
c.1731C>A (p.Asn577Lys)
9g.92718996T>ACA374036537BICD2c.1649A>T (p.Asn550Ile)
c.1730A>T (p.Asn577Ile)
9g.92718996T>CCA5126521BICD2c.1649A>G (p.Asn550Ser)
c.1730A>G (p.Asn577Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.92718996T>GCA374036540BICD2c.1649A>C (p.Asn550Thr)
c.1730A>C (p.Asn577Thr)
9g.92718996T=CA1864361439BICD2c.1649A= (p.Asn550=)
c.1730A= (p.Asn577=)
9g.92718997T>ACA374036543BICD2c.1648A>T (p.Asn550Tyr)
c.1729A>T (p.Asn577Tyr)
9g.92718997T>CCA374036546BICD2c.1648A>G (p.Asn550Asp)
c.1729A>G (p.Asn577Asp)
9g.92718997T>GCA374036548BICD2c.1648A>C (p.Asn550His)
c.1729A>C (p.Asn577His)
9g.92718998G>ACA466343185BICD2c.1647C>T (p.Pro549=)
c.1728C>T (p.Pro576=)
9g.92718998G>CCA466343186BICD2c.1647C>G (p.Pro549=)
c.1728C>G (p.Pro576=)
9g.92718998G>TCA466343187BICD2c.1647C>A (p.Pro549=)
c.1728C>A (p.Pro576=)
9g.92718999G>ACA16618868BICD2c.1646C>T (p.Pro549Leu)
c.1727C>T (p.Pro576Leu)
ClinVar dbSNP
9g.92718999G>CCA374036557BICD2c.1646C>G (p.Pro549Arg)
c.1727C>G (p.Pro576Arg)
9g.92718999G=CA1864361445BICD2c.1646C= (p.Pro549=)
c.1727C= (p.Pro576=)
9g.92718999G>TCA374036552BICD2c.1646C>A (p.Pro549His)
c.1727C>A (p.Pro576His)
9g.92719000G>ACA374036560BICD2c.1645C>T (p.Pro549Ser)
c.1726C>T (p.Pro576Ser)
9g.92719000G>CCA374036563BICD2c.1645C>G (p.Pro549Ala)
c.1726C>G (p.Pro576Ala)
9g.92719000G>TCA374036565BICD2c.1645C>A (p.Pro549Thr)
c.1726C>A (p.Pro576Thr)
9g.92719001T>ACA466343190BICD2c.1644A>T (p.Thr548=)
c.1725A>T (p.Thr575=)
9g.92719001T>CCA466343191BICD2c.1644A>G (p.Thr548=)
c.1725A>G (p.Thr575=)
gnomAD v4
9g.92719001T>GCA466343192BICD2c.1644A>C (p.Thr548=)
c.1725A>C (p.Thr575=)
9g.92719002G>ACA374036568BICD2c.1643C>T (p.Thr548Ile)
c.1724C>T (p.Thr575Ile)
dbSNP
9g.92719002G>CCA374036571BICD2c.1643C>G (p.Thr548Arg)
c.1724C>G (p.Thr575Arg)
9g.92719002G=CA1864361452BICD2c.1643C= (p.Thr548=)
c.1724C= (p.Thr575=)
9g.92719002G>TCA374036574BICD2c.1643C>A (p.Thr548Lys)
c.1724C>A (p.Thr575Lys)
9g.92719003T>ACA374036582BICD2c.1642A>T (p.Thr548Ser)
c.1723A>T (p.Thr575Ser)
9g.92719003T>CCA374036578BICD2c.1642A>G (p.Thr548Ala)
c.1723A>G (p.Thr575Ala)
9g.92719003T>GCA374036580BICD2c.1642A>C (p.Thr548Pro)
c.1723A>C (p.Thr575Pro)
9g.92719004C>ACA374036584BICD2c.1641G>T (p.Glu547Asp)
c.1722G>T (p.Glu574Asp)
9g.92719004C>GCA374036587BICD2c.1641G>C (p.Glu547Asp)
c.1722G>C (p.Glu574Asp)
9g.92719004C>TCA466343195BICD2c.1641G>A (p.Glu547=)
c.1722G>A (p.Glu574=)
9g.92719005T>ACA374036589BICD2c.1640A>T (p.Glu547Val)
c.1721A>T (p.Glu574Val)
9g.92719005T>CCA374036591BICD2c.1640A>G (p.Glu547Gly)
c.1721A>G (p.Glu574Gly)
9g.92719005T>GCA374036592BICD2c.1640A>C (p.Glu547Ala)
c.1721A>C (p.Glu574Ala)
9g.92719006C>ACA374036595BICD2c.1639G>T (p.Glu547Ter)
c.1720G>T (p.Glu574Ter)
gnomAD v4
9g.92719006C>GCA374036598BICD2c.1639G>C (p.Glu547Gln)
c.1720G>C (p.Glu574Gln)
9g.92719006C>TCA374036596BICD2c.1639G>A (p.Glu547Lys)
c.1720G>A (p.Glu574Lys)
9g.92719006_92719009delinsCATTCA1864361457BICD2c.1636_1639delinsAATG (p.Asn546=)
c.1717_1720delinsAATG (p.Asn573=)
9g.92719007A>CCA374036601BICD2c.1638T>G (p.Asn546Lys)
c.1719T>G (p.Asn573Lys)
gnomAD v4
9g.92719007A>GCA466343196BICD2c.1638T>C (p.Asn546=)
c.1719T>C (p.Asn573=)
gnomAD v4
9g.92719007A>TCA374036602BICD2c.1638T>A (p.Asn546Lys)
c.1719T>A (p.Asn573Lys)
9g.92719007_92719009delCA16618869BICD2c.1636_1638del (p.Asn546del)
c.1717_1719del (p.Asn573del)
ClinVar dbSNP
9g.92719008T>ACA374036603BICD2c.1637A>T (p.Asn546Ile)
c.1718A>T (p.Asn573Ile)
9g.92719008T>CCA374036604BICD2c.1637A>G (p.Asn546Ser)
c.1718A>G (p.Asn573Ser)
ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
9g.92719008T>GCA374036606BICD2c.1637A>C (p.Asn546Thr)
c.1718A>C (p.Asn573Thr)
9g.92719008T=CA1864361466BICD2c.1637A= (p.Asn546=)
c.1718A= (p.Asn573=)
9g.92719009T>ACA374036608BICD2c.1636A>T (p.Asn546Tyr)
c.1717A>T (p.Asn573Tyr)
9g.92719009T>CCA374036610BICD2c.1636A>G (p.Asn546Asp)
c.1717A>G (p.Asn573Asp)
9g.92719009T>GCA374036612BICD2c.1636A>C (p.Asn546His)
c.1717A>C (p.Asn573His)
9g.92719010G>ACA466343198BICD2c.1635C>T (p.Asn545=)
c.1716C>T (p.Asn572=)
9g.92719010G>CCA374036617BICD2c.1635C>G (p.Asn545Lys)
c.1716C>G (p.Asn572Lys)
9g.92719010G>TCA374036619BICD2c.1635C>A (p.Asn545Lys)
c.1716C>A (p.Asn572Lys)
9g.92719011T>ACA374036621BICD2c.1634A>T (p.Asn545Ile)
c.1715A>T (p.Asn572Ile)
9g.92719011T>CCA374036624BICD2c.1634A>G (p.Asn545Ser)
c.1715A>G (p.Asn572Ser)
ClinVar
9g.92719011T>GCA374036623BICD2c.1634A>C (p.Asn545Thr)
c.1715A>C (p.Asn572Thr)
9g.92719012T>ACA374036627BICD2c.1633A>T (p.Asn545Tyr)
c.1714A>T (p.Asn572Tyr)
9g.92719012T>CCA374036629BICD2c.1633A>G (p.Asn545Asp)
c.1714A>G (p.Asn572Asp)
ClinVar dbSNP
9g.92719012T>GCA374036628BICD2c.1633A>C (p.Asn545His)
c.1714A>C (p.Asn572His)
9g.92719012T=CA1864361473BICD2c.1633A= (p.Asn545=)
c.1714A= (p.Asn572=)
9g.92719013G>ACA466343202BICD2c.1632C>T (p.Cys544=)
c.1713C>T (p.Cys571=)
9g.92719013G>CCA374036631BICD2c.1632C>G (p.Cys544Trp)
c.1713C>G (p.Cys571Trp)
9g.92719013G>TCA374036634BICD2c.1632C>A (p.Cys544Ter)
c.1713C>A (p.Cys571Ter)
COSMIC COSMIC
9g.92719014C>ACA374036638BICD2c.1631G>T (p.Cys544Phe)
c.1712G>T (p.Cys571Phe)
9g.92719014C=CA1864361484BICD2c.1631G= (p.Cys544=)
c.1712G= (p.Cys571=)
9g.92719014C>GCA374036640BICD2c.1631G>C (p.Cys544Ser)
c.1712G>C (p.Cys571Ser)
9g.92719014C>TCA374036641BICD2c.1631G>A (p.Cys544Tyr)
c.1712G>A (p.Cys571Tyr)
ClinVar dbSNP
9g.92719015A>CCA374036650BICD2c.1630T>G (p.Cys544Gly)
c.1711T>G (p.Cys571Gly)
9g.92719015A>GCA374036647BICD2c.1630T>C (p.Cys544Arg)
c.1711T>C (p.Cys571Arg)
9g.92719015A>TCA374036645BICD2c.1630T>A (p.Cys544Ser)
c.1711T>A (p.Cys571Ser)
9g.92719016C>ACA374036654BICD2c.1629G>T (p.Met543Ile)
c.1710G>T (p.Met570Ile)
COSMIC COSMIC
9g.92719016C=CA1864361487BICD2c.1629G= (p.Met543=)
c.1710G= (p.Met570=)
9g.92719016C>GCA374036656BICD2c.1629G>C (p.Met543Ile)
c.1710G>C (p.Met570Ile)
9g.92719016C>TCA374036659BICD2c.1629G>A (p.Met543Ile)
c.1710G>A (p.Met570Ile)
dbSNP gnomAD v4
9g.92719017A=CA1864361492BICD2c.1628T= (p.Met543=)
c.1709T= (p.Met570=)
9g.92719017A>CCA374036661BICD2c.1628T>G (p.Met543Arg)
c.1709T>G (p.Met570Arg)
9g.92719017A>GCA5126522BICD2c.1628T>C (p.Met543Thr)
c.1709T>C (p.Met570Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
9g.92719017A>TCA374036665BICD2c.1628T>A (p.Met543Lys)
c.1709T>A (p.Met570Lys)
9g.92719017_92719018insGCA645547587BICD2c.1627_1628insC (p.Met543ThrfsTer5)
c.1708_1709insC (p.Met570ThrfsTer5)
COSMIC COSMIC
9g.92719018T>ACA374036668BICD2c.1627A>T (p.Met543Leu)
c.1708A>T (p.Met570Leu)
ClinVar
9g.92719018T>CCA374036682BICD2c.1627A>G (p.Met543Val)
c.1708A>G (p.Met570Val)
9g.92719018T>GCA374036670BICD2c.1627A>C (p.Met543Leu)
c.1708A>C (p.Met570Leu)
9g.92719019G>ACA466343207BICD2c.1626C>T (p.Cys542=)
c.1707C>T (p.Cys569=)
gnomAD v4
9g.92719019G>CCA374036688BICD2c.1626C>G (p.Cys542Trp)
c.1707C>G (p.Cys569Trp)
9g.92719019G>TCA374036690BICD2c.1626C>A (p.Cys542Ter)
c.1707C>A (p.Cys569Ter)
9g.92719020C>ACA374036696BICD2c.1625G>T (p.Cys542Phe)
c.1706G>T (p.Cys569Phe)
9g.92719020C>GCA374036697BICD2c.1625G>C (p.Cys542Ser)
c.1706G>C (p.Cys569Ser)
9g.92719020C>TCA374036699BICD2c.1625G>A (p.Cys542Tyr)
c.1706G>A (p.Cys569Tyr)
9g.92719021A=CA1864361495BICD2c.1624T= (p.Cys542=)
c.1705T= (p.Cys569=)
9g.92719021A>CCA374036700BICD2c.1624T>G (p.Cys542Gly)
c.1705T>G (p.Cys569Gly)
9g.92719021A>GCA196340485BICD2c.1624T>C (p.Cys542Arg)
c.1705T>C (p.Cys569Arg)
dbSNP
9g.92719021A>TCA374036703BICD2c.1624T>A (p.Cys542Ser)
c.1705T>A (p.Cys569Ser)
9g.92719022C>ACA466343213BICD2c.1623G>T (p.Val541=)
c.1704G>T (p.Val568=)
gnomAD v4
9g.92719022C>GCA466343214BICD2c.1623G>C (p.Val541=)
c.1704G>C (p.Val568=)
9g.92719022C>TCA466343215BICD2c.1623G>A (p.Val541=)
c.1704G>A (p.Val568=)
9g.92719023A>CCA374036706BICD2c.1622T>G (p.Val541Gly)
c.1703T>G (p.Val568Gly)
9g.92719023A>GCA374036708BICD2c.1622T>C (p.Val541Ala)
c.1703T>C (p.Val568Ala)
9g.92719023A>TCA374036712BICD2c.1622T>A (p.Val541Glu)
c.1703T>A (p.Val568Glu)
9g.92719023_92719024insGCA645547588BICD2c.1621_1622insC (p.Val541AlafsTer7)
c.1702_1703insC (p.Val568AlafsTer7)
COSMIC COSMIC
9g.92719024C>ACA374036715BICD2c.1621G>T (p.Val541Leu)
c.1702G>T (p.Val568Leu)
dbSNP
9g.92719024C=CA1864361500BICD2c.1621G= (p.Val541=)
c.1702G= (p.Val568=)
9g.92719024C>GCA374036719BICD2c.1621G>C (p.Val541Leu)
c.1702G>C (p.Val568Leu)
9g.92719024C>TCA374036717BICD2c.1621G>A (p.Val541Met)
c.1702G>A (p.Val568Met)
dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
9g.92719025G>ACA5126523BICD2c.1620C>T (p.His540=)
c.1701C>T (p.His567=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.92719025G>CCA374036726BICD2c.1620C>G (p.His540Gln)
c.1701C>G (p.His567Gln)
9g.92719025G=CA1864361508BICD2c.1620C= (p.His540=)
c.1701C= (p.His567=)
9g.92719025G>TCA374036728BICD2c.1620C>A (p.His540Gln)
c.1701C>A (p.His567Gln)
9g.92719026T>ACA374036732BICD2c.1619A>T (p.His540Leu)
c.1700A>T (p.His567Leu)
9g.92719026T>CCA374036735BICD2c.1619A>G (p.His540Arg)
c.1700A>G (p.His567Arg)
ClinVar
9g.92719026T>GCA374036738BICD2c.1619A>C (p.His540Pro)
c.1700A>C (p.His567Pro)
9g.92719027G>ACA374036740BICD2c.1618C>T (p.His540Tyr)
c.1699C>T (p.His567Tyr)
gnomAD v4
9g.92719027G>CCA374036742BICD2c.1618C>G (p.His540Asp)
c.1699C>G (p.His567Asp)
ClinVar dbSNP
9g.92719027G=CA1864361515BICD2c.1618C= (p.His540=)
c.1699C= (p.His567=)
9g.92719027G>TCA374036744BICD2c.1618C>A (p.His540Asn)
c.1699C>A (p.His567Asn)
9g.92719028dupCA2785103235BICD2c.1618dup (p.His540ProfsTer8)
c.1699dup (p.His567ProfsTer8)
9g.92719028G>ACA196340502BICD2c.1617C>T (p.His539=)
c.1698C>T (p.His566=)
ClinVar dbSNP
9g.92719028G>CCA374036745BICD2c.1617C>G (p.His539Gln)
c.1698C>G (p.His566Gln)
ClinVar
9g.92719028G=CA1864361520BICD2c.1617C= (p.His539=)
c.1698C= (p.His566=)
9g.92719028G>TCA374036746BICD2c.1617C>A (p.His539Gln)
c.1698C>A (p.His566Gln)
9g.92719029T>ACA374036753BICD2c.1616A>T (p.His539Leu)
c.1697A>T (p.His566Leu)
9g.92719029T>CCA374036751BICD2c.1616A>G (p.His539Arg)
c.1697A>G (p.His566Arg)
9g.92719029T>GCA374036749BICD2c.1616A>C (p.His539Pro)
c.1697A>C (p.His566Pro)
9g.92719030G>ACA374036756BICD2c.1615C>T (p.His539Tyr)
c.1696C>T (p.His566Tyr)
dbSNP gnomAD v2 gnomAD v4
9g.92719030G>CCA374036758BICD2c.1615C>G (p.His539Asp)
c.1696C>G (p.His566Asp)
9g.92719030G=CA1864361522BICD2c.1615C= (p.His539=)
c.1696C= (p.His566=)
9g.92719030G>TCA374036760BICD2c.1615C>A (p.His539Asn)
c.1696C>A (p.His566Asn)
9g.92719031G>ACA196340514BICD2c.1614C>T (p.Tyr538=)
c.1695C>T (p.Tyr565=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.92719031G>CCA374036762BICD2c.1614C>G (p.Tyr538Ter)
c.1695C>G (p.Tyr565Ter)
9g.92719031G=CA1864361525BICD2c.1614C= (p.Tyr538=)
c.1695C= (p.Tyr565=)
9g.92719031G>TCA374036765BICD2c.1614C>A (p.Tyr538Ter)
c.1695C>A (p.Tyr565Ter)
gnomAD v4
9g.92719032T>ACA374036766BICD2c.1613A>T (p.Tyr538Phe)
c.1694A>T (p.Tyr565Phe)
9g.92719032T>CCA374036769BICD2c.1613A>G (p.Tyr538Cys)
c.1694A>G (p.Tyr565Cys)
ClinVar dbSNP
9g.92719032T>GCA374036770BICD2c.1613A>C (p.Tyr538Ser)
c.1694A>C (p.Tyr565Ser)
9g.92719032T=CA1864361533BICD2c.1613A= (p.Tyr538=)
c.1694A= (p.Tyr565=)
9g.92719033A>CCA374036771BICD2c.1612T>G (p.Tyr538Asp)
c.1693T>G (p.Tyr565Asp)
9g.92719033A>GCA374036773BICD2c.1612T>C (p.Tyr538His)
c.1693T>C (p.Tyr565His)
ClinVar dbSNP
9g.92719033A>TCA374036775BICD2c.1612T>A (p.Tyr538Asn)
c.1693T>A (p.Tyr565Asn)
9g.92719034G>ACA5126524BICD2c.1611C>T (p.Leu537=)
c.1692C>T (p.Leu564=)
dbSNP ExAC gnomAD v2 gnomAD v4
9g.92719034G>CCA466343232BICD2c.1611C>G (p.Leu537=)
c.1692C>G (p.Leu564=)
9g.92719034G=CA1864361538BICD2c.1611C= (p.Leu537=)
c.1692C= (p.Leu564=)
9g.92719034G>TCA466343233BICD2c.1611C>A (p.Leu537=)
c.1692C>A (p.Leu564=)
gnomAD v4
9g.92719035A>CCA374036785BICD2c.1610T>G (p.Leu537Arg)
c.1691T>G (p.Leu564Arg)
9g.92719035A>GCA374036788BICD2c.1610T>C (p.Leu537Pro)
c.1691T>C (p.Leu564Pro)
9g.92719035A>TCA374036782BICD2c.1610T>A (p.Leu537His)
c.1691T>A (p.Leu564His)
9g.92719036G>ACA374036799BICD2c.1609C>T (p.Leu537Phe)
c.1690C>T (p.Leu564Phe)
9g.92719036G>CCA374036792BICD2c.1609C>G (p.Leu537Val)
c.1690C>G (p.Leu564Val)
9g.92719036G>TCA374036795BICD2c.1609C>A (p.Leu537Ile)
c.1690C>A (p.Leu564Ile)
9g.92719037A>CCA374036802BICD2c.1608T>G (p.Asn536Lys)
c.1689T>G (p.Asn563Lys)
9g.92719037A>GCA466343241BICD2c.1608T>C (p.Asn536=)
c.1689T>C (p.Asn563=)
9g.92719037A>TCA374036806BICD2c.1608T>A (p.Asn536Lys)
c.1689T>A (p.Asn563Lys)
9g.92719038T>ACA374036809BICD2c.1607A>T (p.Asn536Ile)
c.1688A>T (p.Asn563Ile)
9g.92719038T>CCA374036812BICD2c.1607A>G (p.Asn536Ser)
c.1688A>G (p.Asn563Ser)
ClinVar gnomAD v4
9g.92719038T>GCA374036816BICD2c.1607A>C (p.Asn536Thr)
c.1688A>C (p.Asn563Thr)
9g.92719039T>ACA374036819BICD2c.1606A>T (p.Asn536Tyr)
c.1687A>T (p.Asn563Tyr)
9g.92719039T>CCA374036823BICD2c.1606A>G (p.Asn536Asp)
c.1687A>G (p.Asn563Asp)
9g.92719039T>GCA374036825BICD2c.1606A>C (p.Asn536His)
c.1687A>C (p.Asn563His)
9g.92719040G>ACA466343247BICD2c.1605C>T (p.Ala535=)
c.1686C>T (p.Ala562=)
gnomAD v4
9g.92719040G>CCA466343248BICD2c.1605C>G (p.Ala535=)
c.1686C>G (p.Ala562=)
9g.92719040G>TCA466343249BICD2c.1605C>A (p.Ala535=)
c.1686C>A (p.Ala562=)
9g.92719041G>ACA374036829BICD2c.1604C>T (p.Ala535Val)
c.1685C>T (p.Ala562Val)
ClinVar dbSNP
9g.92719041G>CCA374036832BICD2c.1604C>G (p.Ala535Gly)
c.1685C>G (p.Ala562Gly)
9g.92719041G=CA1864361545BICD2c.1604C= (p.Ala535=)
c.1685C= (p.Ala562=)
9g.92719041G>TCA374036835BICD2c.1604C>A (p.Ala535Asp)
c.1685C>A (p.Ala562Asp)
gnomAD v4
9g.92719042C>ACA374036848BICD2c.1603G>T (p.Ala535Ser)
c.1684G>T (p.Ala562Ser)
9g.92719042C>GCA374036843BICD2c.1603G>C (p.Ala535Pro)
c.1684G>C (p.Ala562Pro)
9g.92719042C>TCA374036845BICD2c.1603G>A (p.Ala535Thr)
c.1684G>A (p.Ala562Thr)
9g.92719043C>ACA466343251BICD2c.1602G>T (p.Leu534=)
c.1683G>T (p.Leu561=)
9g.92719043C>GCA466343252BICD2c.1602G>C (p.Leu534=)
c.1683G>C (p.Leu561=)
9g.92719043C>TCA466343254BICD2c.1602G>A (p.Leu534=)
c.1683G>A (p.Leu561=)
9g.92719044A>CCA374036852BICD2c.1601T>G (p.Leu534Arg)
c.1682T>G (p.Leu561Arg)
9g.92719044A>GCA374036854BICD2c.1601T>C (p.Leu534Pro)
c.1682T>C (p.Leu561Pro)
9g.92719044A>TCA374036858BICD2c.1601T>A (p.Leu534Gln)
c.1682T>A (p.Leu561Gln)
9g.92719045G>ACA466343262BICD2c.1600C>T (p.Leu534=)
c.1681C>T (p.Leu561=)
9g.92719045G>CCA374036861BICD2c.1600C>G (p.Leu534Val)
c.1681C>G (p.Leu561Val)
9g.92719045G>TCA374036863BICD2c.1600C>A (p.Leu534Met)
c.1681C>A (p.Leu561Met)
9g.92719046C>ACA374036876BICD2c.1599G>T (p.Glu533Asp)
c.1680G>T (p.Glu560Asp)
9g.92719046C>GCA374036878BICD2c.1599G>C (p.Glu533Asp)
c.1680G>C (p.Glu560Asp)
9g.92719046C>TCA466343263BICD2c.1599G>A (p.Glu533=)
c.1680G>A (p.Glu560=)
9g.92719047T>ACA374036881BICD2c.1598A>T (p.Glu533Val)
c.1679A>T (p.Glu560Val)
9g.92719047T>CCA374036883BICD2c.1598A>G (p.Glu533Gly)
c.1679A>G (p.Glu560Gly)
9g.92719047T>GCA374036886BICD2c.1598A>C (p.Glu533Ala)
c.1679A>C (p.Glu560Ala)
9g.92719048C>ACA374036896BICD2c.1597G>T (p.Glu533Ter)
c.1678G>T (p.Glu560Ter)
9g.92719048C>GCA374036897BICD2c.1597G>C (p.Glu533Gln)
c.1678G>C (p.Glu560Gln)
9g.92719048C>TCA374036899BICD2c.1597G>A (p.Glu533Lys)
c.1678G>A (p.Glu560Lys)

Number of alleles fetched