Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.53207751T>ACA402518204DCCc.1795T>A (p.Leu599Ile)
c.1596T>A
c.1726T>A (p.Leu576Ile)
c.760T>A (p.Leu254Ile)
18g.53207751T>CCA503971881DCCc.1795T>C (p.Leu599=)
c.1596T>C
c.1726T>C (p.Leu576=)
c.760T>C (p.Leu254=)
18g.53207751T>GCA402518205DCCc.1795T>G (p.Leu599Val)
c.1596T>G
c.1726T>G (p.Leu576Val)
c.760T>G (p.Leu254Val)
18g.53207752T>ACA402518206DCCc.1796T>A (p.Leu599Ter)
c.1597T>A
c.1727T>A (p.Leu576Ter)
c.761T>A (p.Leu254Ter)
18g.53207752T>CCA402518207DCCc.1796T>C (p.Leu599Ser)
c.1597T>C
c.1727T>C (p.Leu576Ser)
c.761T>C (p.Leu254Ser)
18g.53207752T>GCA402518208DCCc.1796T>G (p.Leu599Ter)
c.1597T>G
c.1727T>G (p.Leu576Ter)
c.761T>G (p.Leu254Ter)
COSMIC COSMIC
18g.53207753A=CA2304037535DCCc.1797A= (p.Leu599=)
c.1598A=
c.1728A= (p.Leu576=)
c.762A= (p.Leu254=)
18g.53207753A>CCA402518209DCCc.1797A>C (p.Leu599Phe)
c.1598A>C
c.1728A>C (p.Leu576Phe)
c.762A>C (p.Leu254Phe)
18g.53207753A>GCA503971882DCCc.1797A>G (p.Leu599=)
c.1598A>G
c.1728A>G (p.Leu576=)
c.762A>G (p.Leu254=)
dbSNP
18g.53207753A>TCA402518210DCCc.1797A>T (p.Leu599Phe)
c.1598A>T
c.1728A>T (p.Leu576Phe)
c.762A>T (p.Leu254Phe)
gnomAD v4
18g.53207754G>ACA402518213DCCc.1798G>A (p.Ala600Thr)
c.1599G>A
c.1729G>A (p.Ala577Thr)
c.763G>A (p.Ala255Thr)
18g.53207754G>CCA402518211DCCc.1798G>C (p.Ala600Pro)
c.1599G>C
c.1729G>C (p.Ala577Pro)
c.763G>C (p.Ala255Pro)
18g.53207754G>TCA402518212DCCc.1798G>T (p.Ala600Ser)
c.1599G>T
c.1729G>T (p.Ala577Ser)
c.763G>T (p.Ala255Ser)
18g.53207755C>ACA402518214DCCc.1799C>A (p.Ala600Asp)
c.1600C>A
c.1730C>A (p.Ala577Asp)
c.764C>A (p.Ala255Asp)
18g.53207755C=CA2304037538DCCc.1799C= (p.Ala600=)
c.1600C=
c.1730C= (p.Ala577=)
c.764C= (p.Ala255=)
18g.53207755C>GCA402518215DCCc.1799C>G (p.Ala600Gly)
c.1600C>G
c.1730C>G (p.Ala577Gly)
c.764C>G (p.Ala255Gly)
gnomAD v4
18g.53207755C>TCA8966985DCCc.1799C>T (p.Ala600Val)
c.1600C>T
c.1730C>T (p.Ala577Val)
c.764C>T (p.Ala255Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.53207756T>ACA503971883DCCc.1800T>A (p.Ala600=)
c.1601T>A
c.1731T>A (p.Ala577=)
c.765T>A (p.Ala255=)
gnomAD v4
18g.53207756T>CCA503971884DCCc.1800T>C (p.Ala600=)
c.1601T>C
c.1731T>C (p.Ala577=)
c.765T>C (p.Ala255=)
18g.53207756T>GCA503971885DCCc.1800T>G (p.Ala600=)
c.1601T>G
c.1731T>G (p.Ala577=)
c.765T>G (p.Ala255=)
18g.53207757delCA2567003387DCCc.1801del (p.Tyr601IlefsTer13)
c.1602del
c.1732del (p.Tyr578IlefsTer13)
c.766del (p.Tyr256IlefsTer13)
18g.53207757T>ACA402518216DCCc.1801T>A (p.Tyr601Asn)
c.1602T>A
c.1732T>A (p.Tyr578Asn)
c.766T>A (p.Tyr256Asn)
18g.53207757T>CCA402518217DCCc.1801T>C (p.Tyr601His)
c.1602T>C
c.1732T>C (p.Tyr578His)
c.766T>C (p.Tyr256His)
18g.53207757T>GCA402518218DCCc.1801T>G (p.Tyr601Asp)
c.1602T>G
c.1732T>G (p.Tyr578Asp)
c.766T>G (p.Tyr256Asp)
18g.53207758A>CCA402518219DCCc.1802A>C (p.Tyr601Ser)
c.1603A>C
c.1733A>C (p.Tyr578Ser)
c.767A>C (p.Tyr256Ser)
18g.53207758A>GCA402518220DCCc.1802A>G (p.Tyr601Cys)
c.1603A>G
c.1733A>G (p.Tyr578Cys)
c.767A>G (p.Tyr256Cys)
18g.53207758A>TCA402518221DCCc.1802A>T (p.Tyr601Phe)
c.1603A>T
c.1733A>T (p.Tyr578Phe)
c.767A>T (p.Tyr256Phe)
18g.53207759T>ACA402518222DCCc.1803T>A (p.Tyr601Ter)
c.1604T>A
c.1734T>A (p.Tyr578Ter)
c.768T>A (p.Tyr256Ter)
18g.53207759T>CCA503971886DCCc.1803T>C (p.Tyr601=)
c.1604T>C
c.1734T>C (p.Tyr578=)
c.768T>C (p.Tyr256=)
gnomAD v4
18g.53207759T>GCA402518223DCCc.1803T>G (p.Tyr601Ter)
c.1604T>G
c.1734T>G (p.Tyr578Ter)
c.768T>G (p.Tyr256Ter)
18g.53207760A>CCA402518226DCCc.1804A>C (p.Asn602His)
c.1605A>C
c.1735A>C (p.Asn579His)
c.769A>C (p.Asn257His)
18g.53207760A>GCA402518225DCCc.1804A>G (p.Asn602Asp)
c.1605A>G
c.1735A>G (p.Asn579Asp)
c.769A>G (p.Asn257Asp)
18g.53207760A>TCA402518224DCCc.1804A>T (p.Asn602Tyr)
c.1605A>T
c.1735A>T (p.Asn579Tyr)
c.769A>T (p.Asn257Tyr)
18g.53207761A=CA2304037541DCCc.1805A= (p.Asn602=)
c.1606A=
c.1736A= (p.Asn579=)
c.770A= (p.Asn257=)
18g.53207761A>CCA402518227DCCc.1805A>C (p.Asn602Thr)
c.1606A>C
c.1736A>C (p.Asn579Thr)
c.770A>C (p.Asn257Thr)
dbSNP gnomAD v2 gnomAD v4
18g.53207761A>GCA402518228DCCc.1805A>G (p.Asn602Ser)
c.1606A>G
c.1736A>G (p.Asn579Ser)
c.770A>G (p.Asn257Ser)
COSMIC
18g.53207761A>TCA402518229DCCc.1805A>T (p.Asn602Ile)
c.1606A>T
c.1736A>T (p.Asn579Ile)
c.770A>T (p.Asn257Ile)
18g.53207762T>ACA402518230DCCc.1806T>A (p.Asn602Lys)
c.1607T>A
c.1737T>A (p.Asn579Lys)
c.771T>A (p.Asn257Lys)
18g.53207762T>CCA503971887DCCc.1806T>C (p.Asn602=)
c.1607T>C
c.1737T>C (p.Asn579=)
c.771T>C (p.Asn257=)
18g.53207762T>GCA402518231DCCc.1806T>G (p.Asn602Lys)
c.1607T>G
c.1737T>G (p.Asn579Lys)
c.771T>G (p.Asn257Lys)
18g.53207763C>ACA402518233DCCc.1807C>A (p.Arg603Ser)
c.1608C>A
c.1738C>A (p.Arg580Ser)
c.772C>A (p.Arg258Ser)
dbSNP
18g.53207763C=CA2304037543DCCc.1807C= (p.Arg603=)
c.1608C=
c.1738C= (p.Arg580=)
c.772C= (p.Arg258=)
18g.53207763C>GCA402518232DCCc.1807C>G (p.Arg603Gly)
c.1608C>G
c.1738C>G (p.Arg580Gly)
c.772C>G (p.Arg258Gly)
gnomAD v4
18g.53207763C>TCA8966986DCCc.1807C>T (p.Arg603Cys)
c.1608C>T
c.1738C>T (p.Arg580Cys)
c.772C>T (p.Arg258Cys)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
18g.53207764G>ACA402518234DCCc.1808G>A (p.Arg603His)
c.1609G>A
c.1739G>A (p.Arg580His)
c.773G>A (p.Arg258His)
dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
18g.53207764G>CCA402518235DCCc.1808G>C (p.Arg603Pro)
c.1609G>C
c.1739G>C (p.Arg580Pro)
c.773G>C (p.Arg258Pro)
18g.53207764G=CA2304037545DCCc.1808G= (p.Arg603=)
c.1609G=
c.1739G= (p.Arg580=)
c.773G= (p.Arg258=)
18g.53207764G>TCA300765520DCCc.1808G>T (p.Arg603Leu)
c.1609G>T
c.1739G>T (p.Arg580Leu)
c.773G>T (p.Arg258Leu)
dbSNP gnomAD v3 gnomAD v4
18g.53207765C>ACA503971890DCCc.1809C>A (p.Arg603=)
c.1610C>A
c.1740C>A (p.Arg580=)
c.774C>A (p.Arg258=)
18g.53207765C>GCA503971888DCCc.1809C>G (p.Arg603=)
c.1610C>G
c.1740C>G (p.Arg580=)
c.774C>G (p.Arg258=)
18g.53207765C>TCA503971889DCCc.1809C>T (p.Arg603=)
c.1610C>T
c.1740C>T (p.Arg580=)
c.774C>T (p.Arg258=)
18g.53207766T>ACA402518236DCCc.1810T>A (p.Tyr604Asn)
c.1611T>A
c.1741T>A (p.Tyr581Asn)
c.775T>A (p.Tyr259Asn)
18g.53207766T>CCA402518237DCCc.1810T>C (p.Tyr604His)
c.1611T>C
c.1741T>C (p.Tyr581His)
c.775T>C (p.Tyr259His)
18g.53207766T>GCA402518238DCCc.1810T>G (p.Tyr604Asp)
c.1611T>G
c.1741T>G (p.Tyr581Asp)
c.775T>G (p.Tyr259Asp)
18g.53207767A=CA2304037548DCCc.1811A= (p.Tyr604=)
c.1612A=
c.1742A= (p.Tyr581=)
c.776A= (p.Tyr259=)
18g.53207767A>CCA402518239DCCc.1811A>C (p.Tyr604Ser)
c.1612A>C
c.1742A>C (p.Tyr581Ser)
c.776A>C (p.Tyr259Ser)
gnomAD v4
18g.53207767A>GCA300765521DCCc.1811A>G (p.Tyr604Cys)
c.1612A>G
c.1742A>G (p.Tyr581Cys)
c.776A>G (p.Tyr259Cys)
dbSNP gnomAD v3 gnomAD v4
18g.53207767A>TCA402518240DCCc.1811A>T (p.Tyr604Phe)
c.1612A>T
c.1742A>T (p.Tyr581Phe)
c.776A>T (p.Tyr259Phe)
18g.53207768T>ACA402518241DCCc.1812T>A (p.Tyr604Ter)
c.1613T>A
c.1743T>A (p.Tyr581Ter)
c.777T>A (p.Tyr259Ter)
18g.53207768T>CCA503971891DCCc.1812T>C (p.Tyr604=)
c.1613T>C
c.1743T>C (p.Tyr581=)
c.777T>C (p.Tyr259=)
dbSNP gnomAD v4
18g.53207768T>GCA402518242DCCc.1812T>G (p.Tyr604Ter)
c.1613T>G
c.1743T>G (p.Tyr581Ter)
c.777T>G (p.Tyr259Ter)
18g.53207768T=CA2304037553DCCc.1812T= (p.Tyr604=)
c.1613T=
c.1743T= (p.Tyr581=)
c.777T= (p.Tyr259=)
18g.53207769G>ACA402518243DCCc.1813G>A (p.Gly605Ser)
c.1614G>A
c.1744G>A (p.Gly582Ser)
c.778G>A (p.Gly260Ser)
gnomAD v4
18g.53207769G>CCA402518244DCCc.1813G>C (p.Gly605Arg)
c.1614G>C
c.1744G>C (p.Gly582Arg)
c.778G>C (p.Gly260Arg)
18g.53207769G>TCA402518245DCCc.1813G>T (p.Gly605Cys)
c.1614G>T
c.1744G>T (p.Gly582Cys)
c.778G>T (p.Gly260Cys)
18g.53207770G>ACA402518246DCCc.1814G>A (p.Gly605Asp)
c.1615G>A
c.1745G>A (p.Gly582Asp)
c.779G>A (p.Gly260Asp)
18g.53207770G>CCA402518247DCCc.1814G>C (p.Gly605Ala)
c.1615G>C
c.1745G>C (p.Gly582Ala)
c.779G>C (p.Gly260Ala)
18g.53207770G>TCA402518248DCCc.1814G>T (p.Gly605Val)
c.1615G>T
c.1745G>T (p.Gly582Val)
c.779G>T (p.Gly260Val)
18g.53207771T>ACA503971892DCCc.1815T>A (p.Gly605=)
c.1616T>A
c.1746T>A (p.Gly582=)
c.780T>A (p.Gly260=)
18g.53207771T>CCA503971893DCCc.1815T>C (p.Gly605=)
c.1616T>C
c.1746T>C (p.Gly582=)
c.780T>C (p.Gly260=)
18g.53207771T>GCA503971894DCCc.1815T>G (p.Gly605=)
c.1616T>G
c.1746T>G (p.Gly582=)
c.780T>G (p.Gly260=)
18g.53207772C>ACA402518249DCCc.1816C>A (p.Pro606Thr)
c.1617C>A
c.1747C>A (p.Pro583Thr)
c.781C>A (p.Pro261Thr)
COSMIC COSMIC
18g.53207772C>GCA402518250DCCc.1816C>G (p.Pro606Ala)
c.1617C>G
c.1747C>G (p.Pro583Ala)
c.781C>G (p.Pro261Ala)
18g.53207772C>TCA402518251DCCc.1816C>T (p.Pro606Ser)
c.1617C>T
c.1747C>T (p.Pro583Ser)
c.781C>T (p.Pro261Ser)
COSMIC COSMIC
18g.53207773C>ACA402518252DCCc.1817C>A (p.Pro606Gln)
c.1618C>A
c.1748C>A (p.Pro583Gln)
c.782C>A (p.Pro261Gln)
18g.53207773C=CA2304037557DCCc.1817C= (p.Pro606=)
c.1618C=
c.1748C= (p.Pro583=)
c.782C= (p.Pro261=)
18g.53207773C>GCA8966987DCCc.1817C>G (p.Pro606Arg)
c.1618C>G
c.1748C>G (p.Pro583Arg)
c.782C>G (p.Pro261Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.53207773C>TCA8966988DCCc.1817C>T (p.Pro606Leu)
c.1618C>T
c.1748C>T (p.Pro583Leu)
c.782C>T (p.Pro261Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.53207774G>ACA8966989DCCc.1818G>A (p.Pro606=)
c.1619G>A
c.1749G>A (p.Pro583=)
c.783G>A (p.Pro261=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.53207774G>CCA503971896DCCc.1818G>C (p.Pro606=)
c.1619G>C
c.1749G>C (p.Pro583=)
c.783G>C (p.Pro261=)
COSMIC COSMIC
18g.53207774G=CA2304037561DCCc.1818G= (p.Pro606=)
c.1619G=
c.1749G= (p.Pro583=)
c.783G= (p.Pro261=)
18g.53207774G>TCA503971895DCCc.1818G>T (p.Pro606=)
c.1619G>T
c.1749G>T (p.Pro583=)
c.783G>T (p.Pro261=)
gnomAD v4
18g.53207775G>ACA402518253DCCc.1819G>A (p.Gly607Ser)
c.1620G>A
c.1750G>A (p.Gly584Ser)
c.784G>A (p.Gly262Ser)
dbSNP COSMIC COSMIC
18g.53207775G>CCA402518255DCCc.1819G>C (p.Gly607Arg)
c.1620G>C
c.1750G>C (p.Gly584Arg)
c.784G>C (p.Gly262Arg)
dbSNP
18g.53207775G>TCA402518254DCCc.1819G>T (p.Gly607Cys)
c.1620G>T
c.1750G>T (p.Gly584Cys)
c.784G>T (p.Gly262Cys)
18g.53207776G>ACA8966990DCCc.1820G>A (p.Gly607Asp)
c.1621G>A
c.1751G>A (p.Gly584Asp)
c.785G>A (p.Gly262Asp)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.53207776G>CCA402518257DCCc.1820G>C (p.Gly607Ala)
c.1621G>C
c.1751G>C (p.Gly584Ala)
c.785G>C (p.Gly262Ala)
18g.53207776G=CA2304037563DCCc.1820G= (p.Gly607=)
c.1621G=
c.1751G= (p.Gly584=)
c.785G= (p.Gly262=)
18g.53207776G>TCA402518256DCCc.1820G>T (p.Gly607Val)
c.1621G>T
c.1751G>T (p.Gly584Val)
c.785G>T (p.Gly262Val)
COSMIC COSMIC
18g.53207777C>ACA503971897DCCc.1821C>A (p.Gly607=)
c.1622C>A
c.1752C>A (p.Gly584=)
c.786C>A (p.Gly262=)
18g.53207777C=CA2304037566DCCc.1821C= (p.Gly607=)
c.1622C=
c.1752C= (p.Gly584=)
c.786C= (p.Gly262=)
18g.53207777C>GCA503971898DCCc.1821C>G (p.Gly607=)
c.1622C>G
c.1752C>G (p.Gly584=)
c.786C>G (p.Gly262=)
18g.53207777C>TCA8966991DCCc.1821C>T (p.Gly607=)
c.1622C>T
c.1752C>T (p.Gly584=)
c.786C>T (p.Gly262=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
18g.53207778G>ACA8966992DCCc.1822G>A (p.Val608Ile)
c.1623G>A
c.1753G>A (p.Val585Ile)
c.787G>A (p.Val263Ile)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.53207778G>CCA402518258DCCc.1822G>C (p.Val608Leu)
c.1623G>C
c.1753G>C (p.Val585Leu)
c.787G>C (p.Val263Leu)
18g.53207778G=CA2304037569DCCc.1822G= (p.Val608=)
c.1623G=
c.1753G= (p.Val585=)
c.787G= (p.Val263=)
18g.53207778G>TCA402518259DCCc.1822G>T (p.Val608Phe)
c.1623G>T
c.1753G>T (p.Val585Phe)
c.787G>T (p.Val263Phe)
18g.53207779T>ACA402518260DCCc.1823T>A (p.Val608Asp)
c.1624T>A
c.1754T>A (p.Val585Asp)
c.788T>A (p.Val263Asp)
18g.53207779T>CCA402518261DCCc.1823T>C (p.Val608Ala)
c.1624T>C
c.1754T>C (p.Val585Ala)
c.788T>C (p.Val263Ala)
18g.53207779T>GCA402518262DCCc.1823T>G (p.Val608Gly)
c.1624T>G
c.1754T>G (p.Val585Gly)
c.788T>G (p.Val263Gly)
18g.53207780C>ACA300765522DCCc.1824C>A (p.Val608=)
c.1625C>A
c.1755C>A (p.Val585=)
c.789C>A (p.Val263=)
dbSNP
18g.53207780C=CA2304037572DCCc.1824C= (p.Val608=)
c.1625C=
c.1755C= (p.Val585=)
c.789C= (p.Val263=)
18g.53207780C>GCA503971899DCCc.1824C>G (p.Val608=)
c.1625C>G
c.1755C>G (p.Val585=)
c.789C>G (p.Val263=)
dbSNP
18g.53207780C>TCA503971900DCCc.1824C>T (p.Val608=)
c.1625C>T
c.1755C>T (p.Val585=)
c.789C>T (p.Val263=)
dbSNP gnomAD v4
18g.53207781T>ACA402518263DCCc.1825T>A (p.Ser609Thr)
c.1626T>A
c.1756T>A (p.Ser586Thr)
c.790T>A (p.Ser264Thr)
18g.53207781T>CCA402518264DCCc.1825T>C (p.Ser609Pro)
c.1626T>C
c.1756T>C (p.Ser586Pro)
c.790T>C (p.Ser264Pro)
18g.53207781T>GCA402518265DCCc.1825T>G (p.Ser609Ala)
c.1626T>G
c.1756T>G (p.Ser586Ala)
c.790T>G (p.Ser264Ala)
18g.53207782C>ACA402518268DCCc.1826C>A (p.Ser609Tyr)
c.1627C>A
c.1757C>A (p.Ser586Tyr)
c.791C>A (p.Ser264Tyr)
dbSNP
18g.53207782C>GCA402518267DCCc.1826C>G (p.Ser609Cys)
c.1627C>G
c.1757C>G (p.Ser586Cys)
c.791C>G (p.Ser264Cys)
18g.53207782C>TCA402518266DCCc.1826C>T (p.Ser609Phe)
c.1627C>T
c.1757C>T (p.Ser586Phe)
c.791C>T (p.Ser264Phe)
gnomAD v4
18g.53207783T>ACA503971901DCCc.1827T>A (p.Ser609=)
c.1628T>A
c.1758T>A (p.Ser586=)
c.792T>A (p.Ser264=)
18g.53207783T>CCA503971902DCCc.1827T>C (p.Ser609=)
c.1628T>C
c.1758T>C (p.Ser586=)
c.792T>C (p.Ser264=)
COSMIC COSMIC
18g.53207783T>GCA503971903DCCc.1827T>G (p.Ser609=)
c.1628T>G
c.1758T>G (p.Ser586=)
c.792T>G (p.Ser264=)
18g.53207784A=CA2304037575DCCc.1828A= (p.Thr610=)
c.1629A=
c.1759A= (p.Thr587=)
c.793A= (p.Thr265=)
18g.53207784A>CCA402518269DCCc.1828A>C (p.Thr610Pro)
c.1629A>C
c.1759A>C (p.Thr587Pro)
c.793A>C (p.Thr265Pro)
18g.53207784A>GCA300765523DCCc.1828A>G (p.Thr610Ala)
c.1629A>G
c.1759A>G (p.Thr587Ala)
c.793A>G (p.Thr265Ala)
dbSNP gnomAD v3 gnomAD v4
18g.53207784A>TCA402518270DCCc.1828A>T (p.Thr610Ser)
c.1629A>T
c.1759A>T (p.Thr587Ser)
c.793A>T (p.Thr265Ser)
18g.53207785C>ACA8966993DCCc.1829C>A (p.Thr610Asn)
c.1630C>A
c.1760C>A (p.Thr587Asn)
c.794C>A (p.Thr265Asn)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.53207785C=CA2304037577DCCc.1829C= (p.Thr610=)
c.1630C=
c.1760C= (p.Thr587=)
c.794C= (p.Thr265=)
18g.53207785C>GCA402518271DCCc.1829C>G (p.Thr610Ser)
c.1630C>G
c.1760C>G (p.Thr587Ser)
c.794C>G (p.Thr265Ser)
gnomAD v4
18g.53207785C>TCA402518272DCCc.1829C>T (p.Thr610Ile)
c.1630C>T
c.1760C>T (p.Thr587Ile)
c.794C>T (p.Thr265Ile)
18g.53207786T>ACA503971906DCCc.1830T>A (p.Thr610=)
c.1631T>A
c.1761T>A (p.Thr587=)
c.795T>A (p.Thr265=)
18g.53207786T>CCA503971904DCCc.1830T>C (p.Thr610=)
c.1631T>C
c.1761T>C (p.Thr587=)
c.795T>C (p.Thr265=)
18g.53207786T>GCA503971905DCCc.1830T>G (p.Thr610=)
c.1631T>G
c.1761T>G (p.Thr587=)
c.795T>G (p.Thr265=)
gnomAD v4
18g.53207787G>ACA402518273DCCc.1831G>A (p.Asp611Asn)
c.1632G>A
c.1762G>A (p.Asp588Asn)
c.796G>A (p.Asp266Asn)
18g.53207787G>CCA402518274DCCc.1831G>C (p.Asp611His)
c.1632G>C
c.1762G>C (p.Asp588His)
c.796G>C (p.Asp266His)
18g.53207787G=CA2304037579DCCc.1831G= (p.Asp611=)
c.1632G=
c.1762G= (p.Asp588=)
c.796G= (p.Asp266=)
18g.53207787G>TCA8966994DCCc.1831G>T (p.Asp611Tyr)
c.1632G>T
c.1762G>T (p.Asp588Tyr)
c.796G>T (p.Asp266Tyr)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.53207788A=CA2304037583DCCc.1832A= (p.Asp611=)
c.1633A=
c.1763A= (p.Asp588=)
c.797A= (p.Asp266=)
18g.53207788A>CCA402518275DCCc.1832A>C (p.Asp611Ala)
c.1633A>C
c.1763A>C (p.Asp588Ala)
c.797A>C (p.Asp266Ala)
18g.53207788A>GCA402518276DCCc.1832A>G (p.Asp611Gly)
c.1633A>G
c.1763A>G (p.Asp588Gly)
c.797A>G (p.Asp266Gly)
dbSNP gnomAD v4 COSMIC
18g.53207788A>TCA402518277DCCc.1832A>T (p.Asp611Val)
c.1633A>T
c.1763A>T (p.Asp588Val)
c.797A>T (p.Asp266Val)
18g.53207789T>ACA402518278DCCc.1833T>A (p.Asp611Glu)
c.1634T>A
c.1764T>A (p.Asp588Glu)
c.798T>A (p.Asp266Glu)
18g.53207789T>CCA503971907DCCc.1833T>C (p.Asp611=)
c.1634T>C
c.1764T>C (p.Asp588=)
c.798T>C (p.Asp266=)
18g.53207789T>GCA402518279DCCc.1833T>G (p.Asp611Glu)
c.1634T>G
c.1764T>G (p.Asp588Glu)
c.798T>G (p.Asp266Glu)
18g.53207790G>ACA402518280DCCc.1834G>A (p.Asp612Asn)
c.1635G>A
c.1765G>A (p.Asp589Asn)
c.799G>A (p.Asp267Asn)
18g.53207790G>CCA402518281DCCc.1834G>C (p.Asp612His)
c.1635G>C
c.1765G>C (p.Asp589His)
c.799G>C (p.Asp267His)
gnomAD v4
18g.53207790G>TCA402518282DCCc.1834G>T (p.Asp612Tyr)
c.1635G>T
c.1765G>T (p.Asp589Tyr)
c.799G>T (p.Asp267Tyr)
18g.53207791A=CA2304037585DCCc.1835A= (p.Asp612=)
c.1636A=
c.1766A= (p.Asp589=)
c.800A= (p.Asp267=)
18g.53207791A>CCA300765524DCCc.1835A>C (p.Asp612Ala)
c.1636A>C
c.1766A>C (p.Asp589Ala)
c.800A>C (p.Asp267Ala)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.53207791A>GCA402518283DCCc.1835A>G (p.Asp612Gly)
c.1636A>G
c.1766A>G (p.Asp589Gly)
c.800A>G (p.Asp267Gly)
gnomAD v4
18g.53207791A>TCA402518284DCCc.1835A>T (p.Asp612Val)
c.1636A>T
c.1766A>T (p.Asp589Val)
c.800A>T (p.Asp267Val)
18g.53207792T>ACA402518285DCCc.1836T>A (p.Asp612Glu)
c.1637T>A
c.1767T>A (p.Asp589Glu)
c.801T>A (p.Asp267Glu)
18g.53207792T>CCA503971908DCCc.1836T>C (p.Asp612=)
c.1637T>C
c.1767T>C (p.Asp589=)
c.801T>C (p.Asp267=)
dbSNP gnomAD v3 gnomAD v4
18g.53207792T>GCA402518286DCCc.1836T>G (p.Asp612Glu)
c.1637T>G
c.1767T>G (p.Asp589Glu)
c.801T>G (p.Asp267Glu)
18g.53207792T=CA2304037587DCCc.1836T= (p.Asp612=)
c.1637T=
c.1767T= (p.Asp589=)
c.801T= (p.Asp267=)
18g.53207793A=CA2304037589DCCc.1837A= (p.Ile613=)
c.1638A=
c.1768A= (p.Ile590=)
c.802A= (p.Ile268=)
18g.53207793A>CCA402518287DCCc.1837A>C (p.Ile613Leu)
c.1638A>C
c.1768A>C (p.Ile590Leu)
c.802A>C (p.Ile268Leu)
18g.53207793A>GCA8966995DCCc.1837A>G (p.Ile613Val)
c.1638A>G
c.1768A>G (p.Ile590Val)
c.802A>G (p.Ile268Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.53207793A>TCA402518288DCCc.1837A>T (p.Ile613Leu)
c.1638A>T
c.1768A>T (p.Ile590Leu)
c.802A>T (p.Ile268Leu)
gnomAD v4
18g.53207794T>ACA402518289DCCc.1838T>A (p.Ile613Lys)
c.1639T>A
c.1769T>A (p.Ile590Lys)
c.803T>A (p.Ile268Lys)
gnomAD v4
18g.53207794T>CCA402518290DCCc.1838T>C (p.Ile613Thr)
c.1639T>C
c.1769T>C (p.Ile590Thr)
c.803T>C (p.Ile268Thr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.53207794T>GCA402518291DCCc.1838T>G (p.Ile613Arg)
c.1639T>G
c.1769T>G (p.Ile590Arg)
c.803T>G (p.Ile268Arg)
18g.53207794T=CA2304037593DCCc.1838T= (p.Ile613=)
c.1639T=
c.1769T= (p.Ile590=)
c.803T= (p.Ile268=)
18g.53207795A>CCA503971909DCCc.1839A>C (p.Ile613=)
c.1640A>C
c.1770A>C (p.Ile590=)
c.804A>C (p.Ile268=)
18g.53207795A>GCA402518292DCCc.1839A>G (p.Ile613Met)
c.1640A>G
c.1770A>G (p.Ile590Met)
c.804A>G (p.Ile268Met)
18g.53207795A>TCA503971910DCCc.1839A>T (p.Ile613=)
c.1640A>T
c.1770A>T (p.Ile590=)
c.804A>T (p.Ile268=)
18g.53207795_53207796dupCA2304037594DCCc.1839_1840dup (p.Thr614LysfsTer?)
c.1640_1641dup
c.1770_1771dup (p.Thr591LysfsTer?)
c.804_805dup (p.Thr269LysfsTer?)
dbSNP
18g.53207796A>CCA402518293DCCc.1840A>C (p.Thr614Pro)
c.1641A>C
c.1771A>C (p.Thr591Pro)
c.805A>C (p.Thr269Pro)
18g.53207796A>GCA402518294DCCc.1840A>G (p.Thr614Ala)
c.1641A>G
c.1771A>G (p.Thr591Ala)
c.805A>G (p.Thr269Ala)
18g.53207796A>TCA402518295DCCc.1840A>T (p.Thr614Ser)
c.1641A>T
c.1771A>T (p.Thr591Ser)
c.805A>T (p.Thr269Ser)
18g.53207797C>ACA402518296DCCc.1841C>A (p.Thr614Lys)
c.1642C>A
c.1772C>A (p.Thr591Lys)
c.806C>A (p.Thr269Lys)
18g.53207797C=CA2304037597DCCc.1841C= (p.Thr614=)
c.1642C=
c.1772C= (p.Thr591=)
c.806C= (p.Thr269=)
18g.53207797C>GCA402518297DCCc.1841C>G (p.Thr614Arg)
c.1642C>G
c.1772C>G (p.Thr591Arg)
c.806C>G (p.Thr269Arg)
18g.53207797C>TCA402518298DCCc.1841C>T (p.Thr614Ile)
c.1642C>T
c.1772C>T (p.Thr591Ile)
c.806C>T (p.Thr269Ile)
dbSNP
18g.53207798A=CA2304037599DCCc.1842A= (p.Thr614=)
c.1643A=
c.1773A= (p.Thr591=)
c.807A= (p.Thr269=)
18g.53207798A>CCA503971911DCCc.1842A>C (p.Thr614=)
c.1643A>C
c.1773A>C (p.Thr591=)
c.807A>C (p.Thr269=)
18g.53207798A>GCA503971912DCCc.1842A>G (p.Thr614=)
c.1643A>G
c.1773A>G (p.Thr591=)
c.807A>G (p.Thr269=)
gnomAD v4
18g.53207798A>TCA503971913DCCc.1842A>T (p.Thr614=)
c.1643A>T
c.1773A>T (p.Thr591=)
c.807A>T (p.Thr269=)
18g.53207798_53207799insCCAAAACTCA2304037601DCCc.1842_1843insCCAAAACT (p.Val615ProfsTer?)
c.1643_1644insCCAAAACT
c.1773_1774insCCAAAACT (p.Val592ProfsTer?)
c.807_808insCCAAAACT (p.Val270ProfsTer?)
dbSNP
18g.53207799G>ACA402518299DCCc.1843G>A (p.Val615Met)
c.1644G>A
c.1774G>A (p.Val592Met)
c.808G>A (p.Val270Met)
18g.53207799G>CCA402518300DCCc.1843G>C (p.Val615Leu)
c.1644G>C
c.1774G>C (p.Val592Leu)
c.808G>C (p.Val270Leu)
18g.53207799G>TCA402518301DCCc.1843G>T (p.Val615Leu)
c.1644G>T
c.1774G>T (p.Val592Leu)
c.808G>T (p.Val270Leu)
18g.53207800T>ACA402518302DCCc.1844T>A (p.Val615Glu)
c.1645T>A
c.1775T>A (p.Val592Glu)
c.809T>A (p.Val270Glu)
18g.53207800T>CCA402518303DCCc.1844T>C (p.Val615Ala)
c.1645T>C
c.1775T>C (p.Val592Ala)
c.809T>C (p.Val270Ala)
18g.53207800T>GCA402518304DCCc.1844T>G (p.Val615Gly)
c.1645T>G
c.1775T>G (p.Val592Gly)
c.809T>G (p.Val270Gly)
18g.53207801G>ACA503971916DCCc.1845G>A (p.Val615=)
c.1646G>A
c.1776G>A (p.Val592=)
c.810G>A (p.Val270=)
gnomAD v4
18g.53207801G>CCA503971914DCCc.1845G>C (p.Val615=)
c.1646G>C
c.1776G>C (p.Val592=)
c.810G>C (p.Val270=)
gnomAD v4
18g.53207801G>TCA503971915DCCc.1845G>T (p.Val615=)
c.1646G>T
c.1776G>T (p.Val592=)
c.810G>T (p.Val270=)
18g.53207802G>ACA402518307DCCc.1846G>A (p.Val616Ile)
c.1647G>A
c.1777G>A (p.Val593Ile)
c.811G>A (p.Val271Ile)
18g.53207802G>CCA402518306DCCc.1846G>C (p.Val616Leu)
c.1647G>C
c.1777G>C (p.Val593Leu)
c.811G>C (p.Val271Leu)
18g.53207802G>TCA402518305DCCc.1846G>T (p.Val616Phe)
c.1647G>T
c.1777G>T (p.Val593Phe)
c.811G>T (p.Val271Phe)
18g.53207803T>ACA402518308DCCc.1847T>A (p.Val616Asp)
c.1648T>A
c.1778T>A (p.Val593Asp)
c.812T>A (p.Val271Asp)
18g.53207803T>CCA402518309DCCc.1847T>C (p.Val616Ala)
c.1648T>C
c.1778T>C (p.Val593Ala)
c.812T>C (p.Val271Ala)
gnomAD v4 COSMIC COSMIC
18g.53207803T>GCA402518310DCCc.1847T>G (p.Val616Gly)
c.1648T>G
c.1778T>G (p.Val593Gly)
c.812T>G (p.Val271Gly)
18g.53207804T>ACA503971917DCCc.1848T>A (p.Val616=)
c.1649T>A
c.1779T>A (p.Val593=)
c.813T>A (p.Val271=)
18g.53207804T>CCA503971918DCCc.1848T>C (p.Val616=)
c.1649T>C
c.1779T>C (p.Val593=)
c.813T>C (p.Val271=)
18g.53207804T>GCA503971919DCCc.1848T>G (p.Val616=)
c.1649T>G
c.1779T>G (p.Val593=)
c.813T>G (p.Val271=)
18g.53207805A>CCA402518311DCCc.1849A>C (p.Thr617Pro)
c.1650A>C
c.1780A>C (p.Thr594Pro)
c.814A>C (p.Thr272Pro)
18g.53207805A>GCA402518312DCCc.1849A>G (p.Thr617Ala)
c.1650A>G
c.1780A>G (p.Thr594Ala)
c.814A>G (p.Thr272Ala)
18g.53207805A>TCA402518313DCCc.1849A>T (p.Thr617Ser)
c.1650A>T
c.1780A>T (p.Thr594Ser)
c.814A>T (p.Thr272Ser)
18g.53207806C>ACA402518316DCCc.1850C>A (p.Thr617Lys)
c.1651C>A
c.1781C>A (p.Thr594Lys)
c.815C>A (p.Thr272Lys)
18g.53207806C>GCA402518315DCCc.1850C>G (p.Thr617Arg)
c.1651C>G
c.1781C>G (p.Thr594Arg)
c.815C>G (p.Thr272Arg)
COSMIC COSMIC
18g.53207806C>TCA402518314DCCc.1850C>T (p.Thr617Ile)
c.1651C>T
c.1781C>T (p.Thr594Ile)
c.815C>T (p.Thr272Ile)
18g.53207807A=CA2304037603DCCc.1851A= (p.Thr617=)
c.1652A=
c.1782A= (p.Thr594=)
c.816A= (p.Thr272=)
18g.53207807A>CCA503971921DCCc.1851A>C (p.Thr617=)
c.1652A>C
c.1782A>C (p.Thr594=)
c.816A>C (p.Thr272=)
18g.53207807A>GCA503971920DCCc.1851A>G (p.Thr617=)
c.1652A>G
c.1782A>G (p.Thr594=)
c.816A>G (p.Thr272=)
gnomAD v4
18g.53207807A>TCA503971922DCCc.1851A>T (p.Thr617=)
c.1652A>T
c.1782A>T (p.Thr594=)
c.816A>T (p.Thr272=)
dbSNP gnomAD v3 gnomAD v4
18g.53207808C>ACA402518317DCCc.1852C>A (p.Leu618Ile)
c.1653C>A
c.1783C>A (p.Leu595Ile)
c.817C>A (p.Leu273Ile)
COSMIC COSMIC
18g.53207808C=CA2304037629DCCc.1852C= (p.Leu618=)
c.1653C=
c.1783C= (p.Leu595=)
c.817C= (p.Leu273=)
18g.53207808C>GCA402518318DCCc.1852C>G (p.Leu618Val)
c.1653C>G
c.1783C>G (p.Leu595Val)
c.817C>G (p.Leu273Val)
18g.53207808C>TCA402518319DCCc.1852C>T (p.Leu618Phe)
c.1653C>T
c.1783C>T (p.Leu595Phe)
c.817C>T (p.Leu273Phe)
dbSNP gnomAD v2
18g.53207809T>ACA402518320DCCc.1853T>A (p.Leu618His)
c.1654T>A
c.1784T>A (p.Leu595His)
c.818T>A (p.Leu273His)
18g.53207809T>CCA402518321DCCc.1853T>C (p.Leu618Pro)
c.1654T>C
c.1784T>C (p.Leu595Pro)
c.818T>C (p.Leu273Pro)
18g.53207809T>GCA402518322DCCc.1853T>G (p.Leu618Arg)
c.1654T>G
c.1784T>G (p.Leu595Arg)
c.818T>G (p.Leu273Arg)
18g.53207810T>ACA503971923DCCc.1854T>A (p.Leu618=)
c.1655T>A
c.1785T>A (p.Leu595=)
c.819T>A (p.Leu273=)
18g.53207810T>CCA503971924DCCc.1854T>C (p.Leu618=)
c.1655T>C
c.1785T>C (p.Leu595=)
c.819T>C (p.Leu273=)
gnomAD v4
18g.53207810T>GCA503971925DCCc.1854T>G (p.Leu618=)
c.1655T>G
c.1785T>G (p.Leu595=)
c.819T>G (p.Leu273=)
18g.53207811T>ACA402518323DCCc.1855T>A (p.Ser619Thr)
c.1656T>A
c.1786T>A (p.Ser596Thr)
c.820T>A (p.Ser274Thr)
18g.53207811T>CCA402518325DCCc.1855T>C (p.Ser619Pro)
c.1656T>C
c.1786T>C (p.Ser596Pro)
c.820T>C (p.Ser274Pro)
18g.53207811T>GCA402518324DCCc.1855T>G (p.Ser619Ala)
c.1656T>G
c.1786T>G (p.Ser596Ala)
c.820T>G (p.Ser274Ala)
18g.53207812C>ACA402518326DCCc.1856C>A (p.Ser619Tyr)
c.1657C>A
c.1787C>A (p.Ser596Tyr)
c.821C>A (p.Ser274Tyr)
18g.53207812C>GCA402518327DCCc.1856C>G (p.Ser619Cys)
c.1657C>G
c.1787C>G (p.Ser596Cys)
c.821C>G (p.Ser274Cys)
18g.53207812C>TCA402518328DCCc.1856C>T (p.Ser619Phe)
c.1657C>T
c.1787C>T (p.Ser596Phe)
c.821C>T (p.Ser274Phe)
18g.53207813T>ACA503971926DCCc.1857T>A (p.Ser619=)
c.1658T>A
c.1788T>A (p.Ser596=)
c.822T>A (p.Ser274=)
gnomAD v4
18g.53207813T>CCA503971927DCCc.1857T>C (p.Ser619=)
c.1658T>C
c.1788T>C (p.Ser596=)
c.822T>C (p.Ser274=)
18g.53207813T>GCA503971928DCCc.1857T>G (p.Ser619=)
c.1658T>G
c.1788T>G (p.Ser596=)
c.822T>G (p.Ser274=)
18g.53207814G>ACA402518329DCCc.1858G>A (p.Asp620Asn)
c.1659G>A
c.1789G>A (p.Asp597Asn)
c.823G>A (p.Asp275Asn)
18g.53207814G>CCA402518330DCCc.1858G>C (p.Asp620His)
c.1659G>C
c.1789G>C (p.Asp597His)
c.823G>C (p.Asp275His)
18g.53207814G>TCA402518331DCCc.1858G>T (p.Asp620Tyr)
c.1659G>T
c.1789G>T (p.Asp597Tyr)
c.823G>T (p.Asp275Tyr)
18g.53207815A>CCA402518332DCCc.1859A>C (p.Asp620Ala)
c.1660A>C
c.1790A>C (p.Asp597Ala)
c.824A>C (p.Asp275Ala)
18g.53207815A>GCA402518333DCCc.1859A>G (p.Asp620Gly)
c.1660A>G
c.1790A>G (p.Asp597Gly)
c.824A>G (p.Asp275Gly)
18g.53207815A>TCA402518334DCCc.1859A>T (p.Asp620Val)
c.1660A>T
c.1790A>T (p.Asp597Val)
c.824A>T (p.Asp275Val)
18g.53207816C>ACA402518335DCCc.1860C>A (p.Asp620Glu)
c.1661C>A
c.1791C>A (p.Asp597Glu)
c.825C>A (p.Asp275Glu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.53207816C=CA2304037632DCCc.1860C= (p.Asp620=)
c.1661C=
c.1791C= (p.Asp597=)
c.825C= (p.Asp275=)
18g.53207816C>GCA402518336DCCc.1860C>G (p.Asp620Glu)
c.1661C>G
c.1791C>G (p.Asp597Glu)
c.825C>G (p.Asp275Glu)
18g.53207816C>TCA8966996DCCc.1860C>T (p.Asp620=)
c.1661C>T
c.1791C>T (p.Asp597=)
c.825C>T (p.Asp275=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
18g.53207817G>ACA8966997DCCc.1861G>A (p.Val621Met)
c.1662G>A
c.1792G>A (p.Val598Met)
c.826G>A (p.Val276Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.53207817G>CCA402518338DCCc.1861G>C (p.Val621Leu)
c.1662G>C
c.1792G>C (p.Val598Leu)
c.826G>C (p.Val276Leu)
18g.53207817G=CA2304037639DCCc.1861G= (p.Val621=)
c.1662G=
c.1792G= (p.Val598=)
c.826G= (p.Val276=)
18g.53207817G>TCA402518337DCCc.1861G>T (p.Val621Leu)
c.1662G>T
c.1792G>T (p.Val598Leu)
c.826G>T (p.Val276Leu)
18g.53207818G>ACA402518339DCCc.1861+1G>A (n.1861+1G>A)
c.1662+1G>A
c.1792+1G>A (n.1792+1G>A)
c.826+1G>A (n.826+1G>A)
gnomAD v4
18g.53207818G>CCA402518340DCCc.1861+1G>C (n.1861+1G>C)
c.1662+1G>C
c.1792+1G>C (n.1792+1G>C)
c.826+1G>C (n.826+1G>C)
18g.53207818G>TCA402518341DCCc.1861+1G>T (n.1861+1G>T)
c.1662+1G>T
c.1792+1G>T (n.1792+1G>T)
c.826+1G>T (n.826+1G>T)
18g.53207819T>ACA402518342DCCc.1861+2T>A (n.1861+2T>A)
c.1662+2T>A
c.1792+2T>A (n.1792+2T>A)
c.826+2T>A (n.826+2T>A)
18g.53207819T>CCA402518343DCCc.1861+2T>C (n.1861+2T>C)
c.1662+2T>C
c.1792+2T>C (n.1792+2T>C)
c.826+2T>C (n.826+2T>C)
18g.53207819T>GCA402518344DCCc.1861+2T>G (n.1861+2T>G)
c.1662+2T>G
c.1792+2T>G (n.1792+2T>G)
c.826+2T>G (n.826+2T>G)
18g.53207820A=CA2304037644DCCc.1861+3A= (n.1861+3A=)
c.1662+3A=
c.1792+3A= (n.1792+3A=)
c.826+3A= (n.826+3A=)
18g.53207820A>GCA629976436DCCc.1861+3A>G (n.1861+3A>G)
c.1662+3A>G
c.1792+3A>G (n.1792+3A>G)
c.826+3A>G (n.826+3A>G)
dbSNP gnomAD v2 gnomAD v4
18g.53207821A>CCA645606872DCCc.1861+4A>C (n.1861+4A>C)
c.1662+4A>C
c.1792+4A>C (n.1792+4A>C)
c.826+4A>C (n.826+4A>C)
COSMIC COSMIC
18g.53207822G>ACA2641856303DCCc.1861+5G>A (n.1861+5G>A)
c.1662+5G>A
c.1792+5G>A (n.1792+5G>A)
c.826+5G>A (n.826+5G>A)
gnomAD v4
18g.53207824T>CCA8966998DCCc.1861+7T>C (n.1861+7T>C)
c.1662+7T>C
c.1792+7T>C (n.1792+7T>C)
c.826+7T>C (n.826+7T>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.53207824T=CA2304037648DCCc.1861+7T= (n.1861+7T=)
c.1662+7T=
c.1792+7T= (n.1792+7T=)
c.826+7T= (n.826+7T=)
18g.53207829dupCA2304037652DCCc.1861+12dup (n.1861+12dup)
c.1662+12dup
c.1792+12dup (n.1792+12dup)
c.826+12dup (n.826+12dup)
dbSNP
18g.53207829delCA2641856304DCCc.1861+12del (n.1861+12del)
c.1662+12del
c.1792+12del (n.1792+12del)
c.826+12del (n.826+12del)
gnomAD v4
18g.53207829A=CA2304037653DCCc.1861+12A= (n.1861+12A=)
c.1662+12A=
c.1792+12A= (n.1792+12A=)
c.826+12A= (n.826+12A=)
18g.53207829A>GCA8966999DCCc.1861+12A>G (n.1861+12A>G)
c.1662+12A>G
c.1792+12A>G (n.1792+12A>G)
c.826+12A>G (n.826+12A>G)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.53207830C>ACA2641856305DCCc.1861+13C>A (n.1861+13C>A)
c.1662+13C>A
c.1792+13C>A (n.1792+13C>A)
c.826+13C>A (n.826+13C>A)
gnomAD v4
18g.53207830C=CA2304037654DCCc.1861+13C= (n.1861+13C=)
c.1662+13C=
c.1792+13C= (n.1792+13C=)
c.826+13C= (n.826+13C=)
18g.53207830C>GCA8967000DCCc.1861+13C>G (n.1861+13C>G)
c.1662+13C>G
c.1792+13C>G (n.1792+13C>G)
c.826+13C>G (n.826+13C>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.53207830C>TCA2641856306DCCc.1861+13C>T (n.1861+13C>T)
c.1662+13C>T
c.1792+13C>T (n.1792+13C>T)
c.826+13C>T (n.826+13C>T)
gnomAD v4
18g.53207831A=CA2304037656DCCc.1861+14A= (n.1861+14A=)
c.1662+14A=
c.1792+14A= (n.1792+14A=)
c.826+14A= (n.826+14A=)
18g.53207831A>GCA990384084DCCc.1861+14A>G (n.1861+14A>G)
c.1662+14A>G
c.1792+14A>G (n.1792+14A>G)
c.826+14A>G (n.826+14A>G)
dbSNP gnomAD v3 gnomAD v4
18g.53207837delCA2641856307DCCc.1861+20del (n.1861+20del)
c.1662+20del
c.1792+20del (n.1792+20del)
c.826+20del (n.826+20del)
gnomAD v4
18g.53207837A>GCA2641856308DCCc.1861+20A>G (n.1861+20A>G)
c.1662+20A>G
c.1792+20A>G (n.1792+20A>G)
c.826+20A>G (n.826+20A>G)
gnomAD v4
18g.53207837A>TCA2641856309DCCc.1861+20A>T (n.1861+20A>T)
c.1662+20A>T
c.1792+20A>T (n.1792+20A>T)
c.826+20A>T (n.826+20A>T)
gnomAD v4
18g.53207838C>ACA2641856310DCCc.1861+21C>A (n.1861+21C>A)
c.1662+21C>A
c.1792+21C>A (n.1792+21C>A)
c.826+21C>A (n.826+21C>A)
gnomAD v4
18g.53207838C>TCA2812527175DCCc.1861+21C>T (n.1861+21C>T)
c.1662+21C>T
c.1792+21C>T (n.1792+21C>T)
c.826+21C>T (n.826+21C>T)
18g.53207839T>CCA2641856311DCCc.1861+22T>C (n.1861+22T>C)
c.1662+22T>C
c.1792+22T>C (n.1792+22T>C)
c.826+22T>C (n.826+22T>C)
gnomAD v4
18g.53207840C=CA2304037657DCCc.1861+23C= (n.1861+23C=)
c.1662+23C=
c.1792+23C= (n.1792+23C=)
c.826+23C= (n.826+23C=)
18g.53207840C>GCA629976437DCCc.1861+23C>G (n.1861+23C>G)
c.1662+23C>G
c.1792+23C>G (n.1792+23C>G)
c.826+23C>G (n.826+23C>G)
dbSNP gnomAD v2 gnomAD v4
18g.53207840C>TCA2735044852DCCc.1861+23C>T (n.1861+23C>T)
c.1662+23C>T
c.1792+23C>T (n.1792+23C>T)
c.826+23C>T (n.826+23C>T)
dbSNP
18g.53207845delCA2641856312DCCc.1861+28del (n.1861+28del)
c.1662+28del
c.1792+28del (n.1792+28del)
c.826+28del (n.826+28del)
gnomAD v4
18g.53207844T>ACA8967001DCCc.1861+27T>A (n.1861+27T>A)
c.1662+27T>A
c.1792+27T>A (n.1792+27T>A)
c.826+27T>A (n.826+27T>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.53207844T>CCA2641856313DCCc.1861+27T>C (n.1861+27T>C)
c.1662+27T>C
c.1792+27T>C (n.1792+27T>C)
c.826+27T>C (n.826+27T>C)
gnomAD v4
18g.53207844T=CA2304037661DCCc.1861+27T= (n.1861+27T=)
c.1662+27T=
c.1792+27T= (n.1792+27T=)
c.826+27T= (n.826+27T=)
18g.53207846A=CA2304037664DCCc.1861+29A= (n.1861+29A=)
c.1662+29A=
c.1792+29A= (n.1792+29A=)
c.826+29A= (n.826+29A=)
18g.53207846A>GCA2304037666DCCc.1861+29A>G (n.1861+29A>G)
c.1662+29A>G
c.1792+29A>G (n.1792+29A>G)
c.826+29A>G (n.826+29A>G)
dbSNP
18g.53207847C=CA2304037667DCCc.1861+30C= (n.1861+30C=)
c.1662+30C=
c.1792+30C= (n.1792+30C=)
c.826+30C= (n.826+30C=)
18g.53207847C>TCA2304037668DCCc.1861+30C>T (n.1861+30C>T)
c.1662+30C>T
c.1792+30C>T (n.1792+30C>T)
c.826+30C>T (n.826+30C>T)
dbSNP gnomAD v4
18g.53207848A=CA2304037670DCCc.1861+31A= (n.1861+31A=)
c.1662+31A=
c.1792+31A= (n.1792+31A=)
c.826+31A= (n.826+31A=)
18g.53207848A>GCA629976438DCCc.1861+31A>G (n.1861+31A>G)
c.1662+31A>G
c.1792+31A>G (n.1792+31A>G)
c.826+31A>G (n.826+31A>G)
dbSNP gnomAD v2 gnomAD v4
18g.53207849T>CCA2641856314DCCc.1861+32T>C (n.1861+32T>C)
c.1662+32T>C
c.1792+32T>C (n.1792+32T>C)
c.826+32T>C (n.826+32T>C)
gnomAD v4
18g.53207850A=CA2304037672DCCc.1861+33A= (n.1861+33A=)
c.1662+33A=
c.1792+33A= (n.1792+33A=)
c.826+33A= (n.826+33A=)
18g.53207850A>GCA300765525DCCc.1861+33A>G (n.1861+33A>G)
c.1662+33A>G
c.1792+33A>G (n.1792+33A>G)
c.826+33A>G (n.826+33A>G)
dbSNP
18g.53207851T>CCA8967002DCCc.1861+34T>C (n.1861+34T>C)
c.1662+34T>C
c.1792+34T>C (n.1792+34T>C)
c.826+34T>C (n.826+34T>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.53207851T=CA2304037675DCCc.1861+34T= (n.1861+34T=)
c.1662+34T=
c.1792+34T= (n.1792+34T=)
c.826+34T= (n.826+34T=)

Number of alleles fetched