Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.31070769T>ACA402112426DSC2c.1778A>T (p.Asn593Ile)
c.2207A>T (p.Asn736Ile)
18g.31070769T>CCA402112427DSC2c.1778A>G (p.Asn593Ser)
c.2207A>G (p.Asn736Ser)
18g.31070769T>GCA402112428DSC2c.1778A>C (p.Asn593Thr)
c.2207A>C (p.Asn736Thr)
18g.31070770T>ACA402112429DSC2c.1777A>T (p.Asn593Tyr)
c.2206A>T (p.Asn736Tyr)
18g.31070770T>CCA035374DSC2c.1777A>G (p.Asn593Asp)
c.2206A>G (p.Asn736Asp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31070770T>GCA402112430DSC2c.1777A>C (p.Asn593His)
c.2206A>C (p.Asn736His)
18g.31070770T=CA2293646660DSC2c.1777A= (p.Asn593=)
c.2206A= (p.Asn736=)
18g.31070771C>ACA10641320DSC2c.1776G>T (p.Gln592His)
c.2205G>T (p.Gln735His)
ClinVar dbSNP
18g.31070771C=CA2293646661DSC2c.1776G= (p.Gln592=)
c.2205G= (p.Gln735=)
18g.31070771C>GCA402112431DSC2c.1776G>C (p.Gln592His)
c.2205G>C (p.Gln735His)
18g.31070771C>TCA503384729DSC2c.1776G>A (p.Gln592=)
c.2205G>A (p.Gln735=)
18g.31070772T>ACA402112432DSC2c.1775A>T (p.Gln592Leu)
c.2204A>T (p.Gln735Leu)
18g.31070772T>CCA402112433DSC2c.1775A>G (p.Gln592Arg)
c.2204A>G (p.Gln735Arg)
18g.31070772T>GCA402112434DSC2c.1775A>C (p.Gln592Pro)
c.2204A>C (p.Gln735Pro)
18g.31070773G>ACA402112435DSC2c.1774C>T (p.Gln592Ter)
c.2203C>T (p.Gln735Ter)
ClinVar
18g.31070773G>CCA402112436DSC2c.1774C>G (p.Gln592Glu)
c.2203C>G (p.Gln735Glu)
18g.31070773G>TCA402112437DSC2c.1774C>A (p.Gln592Lys)
c.2203C>A (p.Gln735Lys)
gnomAD v4
18g.31070774C>ACA402112438DSC2c.1773G>T (p.Gln591His)
c.2202G>T (p.Gln734His)
18g.31070774C=CA2293646662DSC2c.1773G= (p.Gln591=)
c.2202G= (p.Gln734=)
18g.31070774C>GCA402112439DSC2c.1773G>C (p.Gln591His)
c.2202G>C (p.Gln734His)
18g.31070774C>TCA035362DSC2c.1773G>A (p.Gln591=)
c.2202G>A (p.Gln734=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31070775T>ACA402112440DSC2c.1772A>T (p.Gln591Leu)
c.2201A>T (p.Gln734Leu)
18g.31070775T>CCA402112441DSC2c.1772A>G (p.Gln591Arg)
c.2201A>G (p.Gln734Arg)
ClinVar
18g.31070775T>GCA035347DSC2c.1772A>C (p.Gln591Pro)
c.2201A>C (p.Gln734Pro)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.31070775T=CA2293646663DSC2c.1772A= (p.Gln591=)
c.2201A= (p.Gln734=)
18g.31070776G>ACA035335DSC2c.1771C>T (p.Gln591Ter)
c.2200C>T (p.Gln734Ter)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.31070776G>CCA402112443DSC2c.1771C>G (p.Gln591Glu)
c.2200C>G (p.Gln734Glu)
18g.31070776G=CA2293646664DSC2c.1771C= (p.Gln591=)
c.2200C= (p.Gln734=)
18g.31070776G>TCA402112442DSC2c.1771C>A (p.Gln591Lys)
c.2200C>A (p.Gln734Lys)
18g.31070777G>ACA503384730DSC2c.1770C>T (p.Ala590=)
c.2199C>T (p.Ala733=)
ClinVar
18g.31070777G>CCA503384731DSC2c.1770C>G (p.Ala590=)
c.2199C>G (p.Ala733=)
18g.31070777G>TCA503384732DSC2c.1770C>A (p.Ala590=)
c.2199C>A (p.Ala733=)
18g.31070778G>ACA10641324DSC2c.1769C>T (p.Ala590Val)
c.2198C>T (p.Ala733Val)
ClinVar dbSNP gnomAD v4
18g.31070778G>CCA402112444DSC2c.1769C>G (p.Ala590Gly)
c.2198C>G (p.Ala733Gly)
18g.31070778G=CA2293646665DSC2c.1769C= (p.Ala590=)
c.2198C= (p.Ala733=)
18g.31070778G>TCA402112445DSC2c.1769C>A (p.Ala590Asp)
c.2198C>A (p.Ala733Asp)
18g.31070779C>ACA402112446DSC2c.1768G>T (p.Ala590Ser)
c.2197G>T (p.Ala733Ser)
18g.31070779C=CA2293646666DSC2c.1768G= (p.Ala590=)
c.2197G= (p.Ala733=)
18g.31070779C>GCA402112447DSC2c.1768G>C (p.Ala590Pro)
c.2197G>C (p.Ala733Pro)
18g.31070779C>TCA022628DSC2c.1768G>A (p.Ala590Thr)
c.2197G>A (p.Ala733Thr)
ClinVar dbSNP gnomAD v4 COSMIC COSMIC
18g.31070779dupCA2641388083DSC2c.1768dup (p.Ala590GlyfsTer16)
c.2197dup (p.Ala733GlyfsTer16)
gnomAD v4
18g.31070780T>ACA402112448DSC2c.1767A>T (p.Leu589Phe)
c.2196A>T (p.Leu732Phe)
18g.31070780T>CCA503384733DSC2c.1767A>G (p.Leu589=)
c.2196A>G (p.Leu732=)
18g.31070780T>GCA402112449DSC2c.1767A>C (p.Leu589Phe)
c.2196A>C (p.Leu732Phe)
18g.31070781A=CA2293646667DSC2c.1766T= (p.Leu589=)
c.2195T= (p.Leu732=)
18g.31070781A>CCA402112450DSC2c.1766T>G (p.Leu589Ter)
c.2195T>G (p.Leu732Ter)
18g.31070781A>GCA402112451DSC2c.1766T>C (p.Leu589Ser)
c.2195T>C (p.Leu732Ser)
18g.31070781A>TCA402112452DSC2c.1766T>A (p.Leu589Ter)
c.2195T>A (p.Leu732Ter)
dbSNP
18g.31070782A=CA2293646668DSC2c.1765T= (p.Leu589=)
c.2194T= (p.Leu732=)
18g.31070782A>CCA022624DSC2c.1765T>G (p.Leu589Val)
c.2194T>G (p.Leu732Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31070782A>GCA503384734DSC2c.1765T>C (p.Leu589=)
c.2194T>C (p.Leu732=)
ClinVar gnomAD v4
18g.31070782A>TCA402112453DSC2c.1765T>A (p.Leu589Ile)
c.2194T>A (p.Leu732Ile)
18g.31070783A>CCA402112455DSC2c.1764T>G (p.Asp588Glu)
c.2193T>G (p.Asp731Glu)
18g.31070783A>GCA503384735DSC2c.1764T>C (p.Asp588=)
c.2193T>C (p.Asp731=)
18g.31070783A>TCA402112454DSC2c.1764T>A (p.Asp588Glu)
c.2193T>A (p.Asp731Glu)
18g.31070784T>ACA402112456DSC2c.1763A>T (p.Asp588Val)
c.2192A>T (p.Asp731Val)
18g.31070784T>CCA402112457DSC2c.1763A>G (p.Asp588Gly)
c.2192A>G (p.Asp731Gly)
18g.31070784T>GCA402112458DSC2c.1763A>C (p.Asp588Ala)
c.2192A>C (p.Asp731Ala)
18g.31070785C>ACA402112459DSC2c.1762G>T (p.Asp588Tyr)
c.2191G>T (p.Asp731Tyr)
COSMIC COSMIC
18g.31070785C=CA2293646669DSC2c.1762G= (p.Asp588=)
c.2191G= (p.Asp731=)
18g.31070785C>GCA402112460DSC2c.1762G>C (p.Asp588His)
c.2191G>C (p.Asp731His)
18g.31070785C>TCA035290DSC2c.1762G>A (p.Asp588Asn)
c.2191G>A (p.Asp731Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31070786A>CCA402112462DSC2c.1761T>G (p.Asp587Glu)
c.2190T>G (p.Asp730Glu)
18g.31070786A>GCA503384736DSC2c.1761T>C (p.Asp587=)
c.2190T>C (p.Asp730=)
18g.31070786A>TCA402112461DSC2c.1761T>A (p.Asp587Glu)
c.2190T>A (p.Asp730Glu)
18g.31070787T>ACA402112463DSC2c.1760A>T (p.Asp587Val)
c.2189A>T (p.Asp730Val)
ClinVar dbSNP
18g.31070787T>CCA402112464DSC2c.1760A>G (p.Asp587Gly)
c.2189A>G (p.Asp730Gly)
18g.31070787T>GCA402112465DSC2c.1760A>C (p.Asp587Ala)
c.2189A>C (p.Asp730Ala)
18g.31070787T=CA2293646670DSC2c.1760A= (p.Asp587=)
c.2189A= (p.Asp730=)
18g.31070788C>ACA402112466DSC2c.1759G>T (p.Asp587Tyr)
c.2188G>T (p.Asp730Tyr)
18g.31070788C>GCA402112467DSC2c.1759G>C (p.Asp587His)
c.2188G>C (p.Asp730His)
18g.31070788C>TCA402112468DSC2c.1759G>A (p.Asp587Asn)
c.2188G>A (p.Asp730Asn)
18g.31070789A>CCA503384737DSC2c.1758T>G (p.Pro586=)
c.2187T>G (p.Pro729=)
18g.31070789A>GCA503384738DSC2c.1758T>C (p.Pro586=)
c.2187T>C (p.Pro729=)
18g.31070789A>TCA503384739DSC2c.1758T>A (p.Pro586=)
c.2187T>A (p.Pro729=)
18g.31070789_31070790delinsAGCA2293646671DSC2c.1757_1758delinsCT (p.Pro586=)
c.2186_2187delinsCT (p.Pro729=)
18g.31070790G>ACA402112469DSC2c.1757C>T (p.Pro586Leu)
c.2186C>T (p.Pro729Leu)
dbSNP gnomAD v2 gnomAD v4
18g.31070790G>CCA402112471DSC2c.1757C>G (p.Pro586Arg)
c.2186C>G (p.Pro729Arg)
18g.31070790G=CA2293646672DSC2c.1757C= (p.Pro586=)
c.2186C= (p.Pro729=)
18g.31070790G>TCA402112470DSC2c.1757C>A (p.Pro586His)
c.2186C>A (p.Pro729His)
18g.31070791delCA915952452DSC2c.1757del (p.Pro586LeufsTer4)
c.2186del (p.Pro729LeufsTer4)
ClinVar dbSNP
18g.31070791G>ACA402112472DSC2c.1756C>T (p.Pro586Ser)
c.2185C>T (p.Pro729Ser)
gnomAD v4
18g.31070791G>CCA402112474DSC2c.1756C>G (p.Pro586Ala)
c.2185C>G (p.Pro729Ala)
18g.31070791G=CA2293646673DSC2c.1756C= (p.Pro586=)
c.2185C= (p.Pro729=)
18g.31070791G>TCA402112473DSC2c.1756C>A (p.Pro586Thr)
c.2185C>A (p.Pro729Thr)
ClinVar dbSNP gnomAD v2 gnomAD v4
18g.31070792A=CA2293646674DSC2c.1755T= (p.Ile585=)
c.2184T= (p.Ile728=)
18g.31070792A>CCA402112475DSC2c.1755T>G (p.Ile585Met)
c.2184T>G (p.Ile728Met)
dbSNP gnomAD v3 gnomAD v4
18g.31070792A>GCA503384740DSC2c.1755T>C (p.Ile585=)
c.2184T>C (p.Ile728=)
18g.31070792A>TCA503384741DSC2c.1755T>A (p.Ile585=)
c.2184T>A (p.Ile728=)
18g.31070793A=CA2293646675DSC2c.1754T= (p.Ile585=)
c.2183T= (p.Ile728=)
18g.31070793A>CCA402112477DSC2c.1754T>G (p.Ile585Ser)
c.2183T>G (p.Ile728Ser)
18g.31070793A>GCA402112476DSC2c.1754T>C (p.Ile585Thr)
c.2183T>C (p.Ile728Thr)
dbSNP gnomAD v2 gnomAD v4
18g.31070793A>TCA402112478DSC2c.1754T>A (p.Ile585Asn)
c.2183T>A (p.Ile728Asn)
COSMIC COSMIC
18g.31070794T>ACA402112479DSC2c.1753A>T (p.Ile585Phe)
c.2182A>T (p.Ile728Phe)
gnomAD v4
18g.31070794T>CCA402112481DSC2c.1753A>G (p.Ile585Val)
c.2182A>G (p.Ile728Val)
18g.31070794T>GCA402112480DSC2c.1753A>C (p.Ile585Leu)
c.2182A>C (p.Ile728Leu)
18g.31070795T>ACA503384742DSC2c.1752A>T (p.Val584=)
c.2181A>T (p.Val727=)
18g.31070795T>CCA503384743DSC2c.1752A>G (p.Val584=)
c.2181A>G (p.Val727=)
gnomAD v4
18g.31070795T>GCA503384744DSC2c.1752A>C (p.Val584=)
c.2181A>C (p.Val727=)
18g.31070796A>CCA402112482DSC2c.1751T>G (p.Val584Gly)
c.2180T>G (p.Val727Gly)
18g.31070796A>GCA402112483DSC2c.1751T>C (p.Val584Ala)
c.2180T>C (p.Val727Ala)
18g.31070796A>TCA402112484DSC2c.1751T>A (p.Val584Glu)
c.2180T>A (p.Val727Glu)
18g.31070797C>ACA402112485DSC2c.1750G>T (p.Val584Leu)
c.2179G>T (p.Val727Leu)
18g.31070797C>GCA402112486DSC2c.1750G>C (p.Val584Leu)
c.2179G>C (p.Val727Leu)
18g.31070797C>TCA402112487DSC2c.1750G>A (p.Val584Ile)
c.2179G>A (p.Val727Ile)
18g.31070798T>ACA402112488DSC2c.1749A>T (p.Lys583Asn)
c.2178A>T (p.Lys726Asn)
18g.31070798T>CCA035273DSC2c.1749A>G (p.Lys583=)
c.2178A>G (p.Lys726=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31070798T>GCA402112489DSC2c.1749A>C (p.Lys583Asn)
c.2178A>C (p.Lys726Asn)
18g.31070798T=CA2293646676DSC2c.1749A= (p.Lys583=)
c.2178A= (p.Lys726=)
18g.31070799T>ACA402112492DSC2c.1748A>T (p.Lys583Ile)
c.2177A>T (p.Lys726Ile)
18g.31070799T>CCA402112491DSC2c.1748A>G (p.Lys583Arg)
c.2177A>G (p.Lys726Arg)
18g.31070799T>GCA402112490DSC2c.1748A>C (p.Lys583Thr)
c.2177A>C (p.Lys726Thr)
18g.31070800T>ACA402112493DSC2c.1747A>T (p.Lys583Ter)
c.2176A>T (p.Lys726Ter)
18g.31070800T>CCA402112494DSC2c.1747A>G (p.Lys583Glu)
c.2176A>G (p.Lys726Glu)
18g.31070800T>GCA402112495DSC2c.1747A>C (p.Lys583Gln)
c.2176A>C (p.Lys726Gln)
dbSNP
18g.31070800T=CA2293646677DSC2c.1747A= (p.Lys583=)
c.2176A= (p.Lys726=)
18g.31070801T>ACA503384745DSC2c.1746A>T (p.Pro582=)
c.2175A>T (p.Pro725=)
18g.31070801T>CCA503384746DSC2c.1746A>G (p.Pro582=)
c.2175A>G (p.Pro725=)
ClinVar dbSNP gnomAD v2 gnomAD v4
18g.31070801T>GCA297687769DSC2c.1746A>C (p.Pro582=)
c.2175A>C (p.Pro725=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.31070801T=CA2293646678DSC2c.1746A= (p.Pro582=)
c.2175A= (p.Pro725=)
18g.31070802G>ACA10577046DSC2c.1745C>T (p.Pro582Leu)
c.2174C>T (p.Pro725Leu)
ClinVar dbSNP
18g.31070802G>CCA402112496DSC2c.1745C>G (p.Pro582Arg)
c.2174C>G (p.Pro725Arg)
18g.31070802G=CA2293646679DSC2c.1745C= (p.Pro582=)
c.2174C= (p.Pro725=)
18g.31070802G>TCA402112497DSC2c.1745C>A (p.Pro582Gln)
c.2174C>A (p.Pro725Gln)
18g.31070803G>ACA402112498DSC2c.1744C>T (p.Pro582Ser)
c.2173C>T (p.Pro725Ser)
dbSNP gnomAD v3 gnomAD v4
18g.31070803G>CCA402112499DSC2c.1744C>G (p.Pro582Ala)
c.2173C>G (p.Pro725Ala)
gnomAD v4
18g.31070803G=CA2293646680DSC2c.1744C= (p.Pro582=)
c.2173C= (p.Pro725=)
18g.31070803G>TCA402112500DSC2c.1744C>A (p.Pro582Thr)
c.2173C>A (p.Pro725Thr)
gnomAD v4
18g.31070804T>ACA402112501DSC2c.1743A>T (p.Gln581His)
c.2172A>T (p.Gln724His)
18g.31070804T>CCA503384747DSC2c.1743A>G (p.Gln581=)
c.2172A>G (p.Gln724=)
18g.31070804T>GCA402112502DSC2c.1743A>C (p.Gln581His)
c.2172A>C (p.Gln724His)
18g.31070805T>ACA402112504DSC2c.1742A>T (p.Gln581Leu)
c.2171A>T (p.Gln724Leu)
18g.31070805T>CCA402112505DSC2c.1742A>G (p.Gln581Arg)
c.2171A>G (p.Gln724Arg)
18g.31070805T>GCA402112503DSC2c.1742A>C (p.Gln581Pro)
c.2171A>C (p.Gln724Pro)
18g.31070806G>ACA402112506DSC2c.1741C>T (p.Gln581Ter)
c.2170C>T (p.Gln724Ter)
18g.31070806G>CCA402112507DSC2c.1741C>G (p.Gln581Glu)
c.2170C>G (p.Gln724Glu)
18g.31070806G>TCA402112508DSC2c.1741C>A (p.Gln581Lys)
c.2170C>A (p.Gln724Lys)
18g.31070807T>ACA402112509DSC2c.1740A>T (p.Lys580Asn)
c.2169A>T (p.Lys723Asn)
18g.31070807T>CCA503384748DSC2c.1740A>G (p.Lys580=)
c.2169A>G (p.Lys723=)
gnomAD v4
18g.31070807T>GCA402112510DSC2c.1740A>C (p.Lys580Asn)
c.2169A>C (p.Lys723Asn)
18g.31070808T>ACA402112511DSC2c.1739A>T (p.Lys580Ile)
c.2168A>T (p.Lys723Ile)
18g.31070808T>CCA402112512DSC2c.1739A>G (p.Lys580Arg)
c.2168A>G (p.Lys723Arg)
18g.31070808T>GCA402112513DSC2c.1739A>C (p.Lys580Thr)
c.2168A>C (p.Lys723Thr)
18g.31070809T>ACA402112514DSC2c.1738A>T (p.Lys580Ter)
c.2167A>T (p.Lys723Ter)
COSMIC COSMIC
18g.31070809T>CCA402112515DSC2c.1738A>G (p.Lys580Glu)
c.2167A>G (p.Lys723Glu)
gnomAD v4
18g.31070809T>GCA402112516DSC2c.1738A>C (p.Lys580Gln)
c.2167A>C (p.Lys723Gln)
18g.31070810A>CCA503384749DSC2c.1737T>G (p.Ser579=)
c.2166T>G (p.Ser722=)
18g.31070810A>GCA503384750DSC2c.1737T>C (p.Ser579=)
c.2166T>C (p.Ser722=)
18g.31070810A>TCA503384751DSC2c.1737T>A (p.Ser579=)
c.2166T>A (p.Ser722=)
18g.31070811G>ACA402112519DSC2c.1736C>T (p.Ser579Phe)
c.2165C>T (p.Ser722Phe)
18g.31070811G>CCA402112518DSC2c.1736C>G (p.Ser579Cys)
c.2165C>G (p.Ser722Cys)
18g.31070811G>TCA402112517DSC2c.1736C>A (p.Ser579Tyr)
c.2165C>A (p.Ser722Tyr)
18g.31070812A>CCA402112520DSC2c.1735T>G (p.Ser579Ala)
c.2164T>G (p.Ser722Ala)
18g.31070812A>GCA402112521DSC2c.1735T>C (p.Ser579Pro)
c.2164T>C (p.Ser722Pro)
ClinVar
18g.31070812A>TCA402112522DSC2c.1735T>A (p.Ser579Thr)
c.2164T>A (p.Ser722Thr)
18g.31070813C>ACA503384752DSC2c.1734G>T (p.Thr578=)
c.2163G>T (p.Thr721=)
dbSNP gnomAD v3 gnomAD v4
18g.31070813C=CA2293646681DSC2c.1734G= (p.Thr578=)
c.2163G= (p.Thr721=)
18g.31070813C>GCA503384753DSC2c.1734G>C (p.Thr578=)
c.2163G>C (p.Thr721=)
18g.31070813C>TCA035221DSC2c.1734G>A (p.Thr578=)
c.2163G>A (p.Thr721=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31070813_31070814delinsCGCA2293646682DSC2c.1733_1734delinsCG (p.Thr578=)
c.2162_2163delinsCG (p.Thr721=)
18g.31070814delCA913189077DSC2c.1733del (p.Thr578SerfsTer7)
c.2162del (p.Thr721SerfsTer7)
ClinVar dbSNP
18g.31070814G>ACA035202DSC2c.1733C>T (p.Thr578Met)
c.2162C>T (p.Thr721Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
18g.31070814G>CCA402112523DSC2c.1733C>G (p.Thr578Arg)
c.2162C>G (p.Thr721Arg)
18g.31070814G=CA2293646683DSC2c.1733C= (p.Thr578=)
c.2162C= (p.Thr721=)
18g.31070814G>TCA402112524DSC2c.1733C>A (p.Thr578Lys)
c.2162C>A (p.Thr721Lys)
ClinVar dbSNP gnomAD v4
18g.31070815T>ACA402112525DSC2c.1732A>T (p.Thr578Ser)
c.2161A>T (p.Thr721Ser)
18g.31070815T>CCA402112526DSC2c.1732A>G (p.Thr578Ala)
c.2161A>G (p.Thr721Ala)
18g.31070815T>GCA402112527DSC2c.1732A>C (p.Thr578Pro)
c.2161A>C (p.Thr721Pro)
dbSNP gnomAD v3 gnomAD v4
18g.31070815T=CA2293646684DSC2c.1732A= (p.Thr578=)
c.2161A= (p.Thr721=)
18g.31070816C>ACA503384754DSC2c.1731G>T (p.Gly577=)
c.2160G>T (p.Gly720=)
gnomAD v4
18g.31070816C>GCA503384755DSC2c.1731G>C (p.Gly577=)
c.2160G>C (p.Gly720=)
ClinVar dbSNP
18g.31070816C>TCA503384756DSC2c.1731G>A (p.Gly577=)
c.2160G>A (p.Gly720=)
COSMIC COSMIC
18g.31070817C>ACA402112528DSC2c.1730G>T (p.Gly577Val)
c.2159G>T (p.Gly720Val)
18g.31070817C>GCA402112529DSC2c.1730G>C (p.Gly577Ala)
c.2159G>C (p.Gly720Ala)
18g.31070817C>TCA402112530DSC2c.1730G>A (p.Gly577Glu)
c.2159G>A (p.Gly720Glu)
gnomAD v4
18g.31070818C>ACA402112532DSC2c.1729G>T (p.Gly577Trp)
c.2158G>T (p.Gly720Trp)
18g.31070818C=CA2293646685DSC2c.1729G= (p.Gly577=)
c.2158G= (p.Gly720=)
18g.31070818C>GCA402112533DSC2c.1729G>C (p.Gly577Arg)
c.2158G>C (p.Gly720Arg)
ClinVar dbSNP gnomAD v3 gnomAD v4
18g.31070818C>TCA402112531DSC2c.1729G>A (p.Gly577Arg)
c.2158G>A (p.Gly720Arg)
dbSNP
18g.31070819A=CA2293646686DSC2c.1728T= (p.Ser576=)
c.2157T= (p.Ser719=)
18g.31070819A>CCA503384757DSC2c.1728T>G (p.Ser576=)
c.2157T>G (p.Ser719=)
18g.31070819A>GCA16607902DSC2c.1728T>C (p.Ser576=)
c.2157T>C (p.Ser719=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.31070819A>TCA503384758DSC2c.1728T>A (p.Ser576=)
c.2157T>A (p.Ser719=)
18g.31070820G>ACA402112536DSC2c.1727C>T (p.Ser576Phe)
c.2156C>T (p.Ser719Phe)
gnomAD v4
18g.31070820G>CCA402112534DSC2c.1727C>G (p.Ser576Cys)
c.2156C>G (p.Ser719Cys)
18g.31070820G>TCA402112535DSC2c.1727C>A (p.Ser576Tyr)
c.2156C>A (p.Ser719Tyr)
18g.31070821A>CCA402112537DSC2c.1726T>G (p.Ser576Ala)
c.2155T>G (p.Ser719Ala)
18g.31070821A>GCA402112538DSC2c.1726T>C (p.Ser576Pro)
c.2155T>C (p.Ser719Pro)
18g.31070821A>TCA402112539DSC2c.1726T>A (p.Ser576Thr)
c.2155T>A (p.Ser719Thr)
18g.31070822A>CCA503384761DSC2c.1725T>G (p.Ala575=)
c.2154T>G (p.Ala718=)
18g.31070822A>GCA503384759DSC2c.1725T>C (p.Ala575=)
c.2154T>C (p.Ala718=)
18g.31070822A>TCA503384760DSC2c.1725T>A (p.Ala575=)
c.2154T>A (p.Ala718=)
18g.31070823G>ACA402112540DSC2c.1724C>T (p.Ala575Val)
c.2153C>T (p.Ala718Val)
18g.31070823G>CCA402112541DSC2c.1724C>G (p.Ala575Gly)
c.2153C>G (p.Ala718Gly)
18g.31070823G>TCA402112542DSC2c.1724C>A (p.Ala575Asp)
c.2153C>A (p.Ala718Asp)
18g.31070823_31070824delinsGCCA2293646687DSC2c.1723_1724delinsGC (p.Ala575=)
c.2152_2153delinsGC (p.Ala718=)
18g.31070824C>ACA035181DSC2c.1723G>T (p.Ala575Ser)
c.2152G>T (p.Ala718Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.31070824C=CA2293646688DSC2c.1723G= (p.Ala575=)
c.2152G= (p.Ala718=)
18g.31070824C>GCA402112543DSC2c.1723G>C (p.Ala575Pro)
c.2152G>C (p.Ala718Pro)
18g.31070824C>TCA402112544DSC2c.1723G>A (p.Ala575Thr)
c.2152G>A (p.Ala718Thr)
dbSNP
18g.31070827delCA035169DSC2c.1723del (p.Ala575LeufsTer10)
c.2152del (p.Ala718LeufsTer10)
ClinVar dbSNP ExAC gnomAD v2
18g.31070825C>ACA503384762DSC2c.1722G>T (p.Gly574=)
c.2151G>T (p.Gly717=)
18g.31070825C=CA2293646689DSC2c.1722G= (p.Gly574=)
c.2151G= (p.Gly717=)
18g.31070825C>GCA035152DSC2c.1722G>C (p.Gly574=)
c.2151G>C (p.Gly717=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31070825C>TCA503384763DSC2c.1722G>A (p.Gly574=)
c.2151G>A (p.Gly717=)
18g.31070826C>ACA402112546DSC2c.1721G>T (p.Gly574Val)
c.2150G>T (p.Gly717Val)
18g.31070826C=CA2293646690DSC2c.1721G= (p.Gly574=)
c.2150G= (p.Gly717=)
18g.31070826C>GCA402112545DSC2c.1721G>C (p.Gly574Ala)
c.2150G>C (p.Gly717Ala)
COSMIC COSMIC
18g.31070826C>TCA035137DSC2c.1721G>A (p.Gly574Glu)
c.2150G>A (p.Gly717Glu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31070827C>ACA402112547DSC2c.1720G>T (p.Gly574Trp)
c.2149G>T (p.Gly717Trp)
18g.31070827C=CA2293646691DSC2c.1720G= (p.Gly574=)
c.2149G= (p.Gly717=)
18g.31070827C>GCA402112548DSC2c.1720G>C (p.Gly574Arg)
c.2149G>C (p.Gly717Arg)
18g.31070827C>TCA297687842DSC2c.1720G>A (p.Gly574Arg)
c.2149G>A (p.Gly717Arg)
dbSNP gnomAD v4
18g.31070828A>CCA402112549DSC2c.1719T>G (p.Cys573Trp)
c.2148T>G (p.Cys716Trp)
18g.31070828A>GCA503384764DSC2c.1719T>C (p.Cys573=)
c.2148T>C (p.Cys716=)
18g.31070828A>TCA402112550DSC2c.1719T>A (p.Cys573Ter)
c.2148T>A (p.Cys716Ter)
18g.31070829C>ACA035114DSC2c.1718G>T (p.Cys573Phe)
c.2147G>T (p.Cys716Phe)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.31070829C=CA2293646692DSC2c.1718G= (p.Cys573=)
c.2147G= (p.Cys716=)
18g.31070829C>GCA022618DSC2c.1718G>C (p.Cys573Ser)
c.2147G>C (p.Cys716Ser)
ClinVar dbSNP gnomAD v3 gnomAD v4
18g.31070829C>TCA402112551DSC2c.1718G>A (p.Cys573Tyr)
c.2147G>A (p.Cys716Tyr)
ClinVar dbSNP gnomAD v4
18g.31070830A=CA2293646693DSC2c.1717T= (p.Cys573=)
c.2146T= (p.Cys716=)
18g.31070830A>CCA035060DSC2c.1717T>G (p.Cys573Gly)
c.2146T>G (p.Cys716Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.31070830A>GCA402112552DSC2c.1717T>C (p.Cys573Arg)
c.2146T>C (p.Cys716Arg)
gnomAD v4
18g.31070830A>TCA402112553DSC2c.1717T>A (p.Cys573Ser)
c.2146T>A (p.Cys716Ser)
18g.31070831G>ACA503384765DSC2c.1716C>T (p.Val572=)
c.2145C>T (p.Val715=)
18g.31070831G>CCA503384766DSC2c.1716C>G (p.Val572=)
c.2145C>G (p.Val715=)
18g.31070831G>TCA503384767DSC2c.1716C>A (p.Val572=)
c.2145C>A (p.Val715=)
COSMIC COSMIC
18g.31070832A>CCA402112556DSC2c.1715T>G (p.Val572Gly)
c.2144T>G (p.Val715Gly)
18g.31070832A>GCA402112555DSC2c.1715T>C (p.Val572Ala)
c.2144T>C (p.Val715Ala)
18g.31070832A>TCA402112554DSC2c.1715T>A (p.Val572Asp)
c.2144T>A (p.Val715Asp)
18g.31070833C>ACA402112557DSC2c.1714G>T (p.Val572Phe)
c.2143G>T (p.Val715Phe)
18g.31070833C>GCA402112558DSC2c.1714G>C (p.Val572Leu)
c.2143G>C (p.Val715Leu)
gnomAD v4
18g.31070833C>TCA402112559DSC2c.1714G>A (p.Val572Ile)
c.2143G>A (p.Val715Ile)
18g.31070834C>ACA503384768DSC2c.1713G>T (p.Leu571=)
c.2142G>T (p.Leu714=)
18g.31070834C=CA2293646694DSC2c.1713G= (p.Leu571=)
c.2142G= (p.Leu714=)
18g.31070834C>GCA035038DSC2c.1713G>C (p.Leu571=)
c.2142G>C (p.Leu714=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31070834C>TCA035018DSC2c.1713G>A (p.Leu571=)
c.2142G>A (p.Leu714=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.31070835A>CCA402112560DSC2c.1712T>G (p.Leu571Arg)
c.2141T>G (p.Leu714Arg)
18g.31070835A>GCA402112561DSC2c.1712T>C (p.Leu571Pro)
c.2141T>C (p.Leu714Pro)
dbSNP
18g.31070835A>TCA402112562DSC2c.1712T>A (p.Leu571Gln)
c.2141T>A (p.Leu714Gln)
18g.31070836G>ACA503384769DSC2c.1711C>T (p.Leu571=)
c.2140C>T (p.Leu714=)
18g.31070836G>CCA402112563DSC2c.1711C>G (p.Leu571Val)
c.2140C>G (p.Leu714Val)
18g.31070836G>TCA402112564DSC2c.1711C>A (p.Leu571Met)
c.2140C>A (p.Leu714Met)
18g.31070837C>ACA297687895DSC2c.1710G>T (p.Thr570=)
c.2139G>T (p.Thr713=)
dbSNP gnomAD v3 gnomAD v4
18g.31070837C=CA2293646695DSC2c.1710G= (p.Thr570=)
c.2139G= (p.Thr713=)
18g.31070837C>GCA503384770DSC2c.1710G>C (p.Thr570=)
c.2139G>C (p.Thr713=)
18g.31070837C>TCA022613DSC2c.1710G>A (p.Thr570=)
c.2139G>A (p.Thr713=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31070838G>ACA034970DSC2c.1709C>T (p.Thr570Met)
c.2138C>T (p.Thr713Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
18g.31070838G>CCA402112566DSC2c.1709C>G (p.Thr570Arg)
c.2138C>G (p.Thr713Arg)
18g.31070838G=CA2293646696DSC2c.1709C= (p.Thr570=)
c.2138C= (p.Thr713=)
18g.31070838G>TCA402112565DSC2c.1709C>A (p.Thr570Lys)
c.2138C>A (p.Thr713Lys)
ClinVar dbSNP gnomAD v4
18g.31070839T>ACA402112567DSC2c.1708A>T (p.Thr570Ser)
c.2137A>T (p.Thr713Ser)
18g.31070839T>CCA402112568DSC2c.1708A>G (p.Thr570Ala)
c.2137A>G (p.Thr713Ala)
18g.31070839T>GCA402112569DSC2c.1708A>C (p.Thr570Pro)
c.2137A>C (p.Thr713Pro)
18g.31070840A>CCA402112570DSC2c.1707T>G (p.Phe569Leu)
c.2136T>G (p.Phe712Leu)
18g.31070840A>GCA503384771DSC2c.1707T>C (p.Phe569=)
c.2136T>C (p.Phe712=)
18g.31070840A>TCA402112571DSC2c.1707T>A (p.Phe569Leu)
c.2136T>A (p.Phe712Leu)
18g.31070842dupCA2573155205DSC2c.1707dup (p.Thr570TyrfsTer11)
c.2136dup (p.Thr713TyrfsTer11)
ClinVar dbSNP
18g.31070842delCA2739268623DSC2c.1707del (p.Phe569LeufsTer16)
c.2136del (p.Phe712LeufsTer16)
ClinVar
18g.31070841A>CCA402112574DSC2c.1706T>G (p.Phe569Cys)
c.2135T>G (p.Phe712Cys)
18g.31070841A>GCA402112572DSC2c.1706T>C (p.Phe569Ser)
c.2135T>C (p.Phe712Ser)
18g.31070841A>TCA402112573DSC2c.1706T>A (p.Phe569Tyr)
c.2135T>A (p.Phe712Tyr)
18g.31070842A>CCA402112575DSC2c.1705T>G (p.Phe569Val)
c.2134T>G (p.Phe712Val)
18g.31070842A>GCA402112576DSC2c.1705T>C (p.Phe569Leu)
c.2134T>C (p.Phe712Leu)
18g.31070842A>TCA402112577DSC2c.1705T>A (p.Phe569Ile)
c.2134T>A (p.Phe712Ile)
18g.31070843C>ACA503384772DSC2c.1704G>T (p.Leu568=)
c.2133G>T (p.Leu711=)
18g.31070843C>GCA503384773DSC2c.1704G>C (p.Leu568=)
c.2133G>C (p.Leu711=)
18g.31070843C>TCA503384774DSC2c.1704G>A (p.Leu568=)
c.2133G>A (p.Leu711=)
18g.31070844A>CCA402112578DSC2c.1703T>G (p.Leu568Arg)
c.2132T>G (p.Leu711Arg)
18g.31070844A>GCA402112579DSC2c.1703T>C (p.Leu568Pro)
c.2132T>C (p.Leu711Pro)
18g.31070844A>TCA402112580DSC2c.1703T>A (p.Leu568Gln)
c.2132T>A (p.Leu711Gln)
ClinVar gnomAD v4
18g.31070845G>ACA503384775DSC2c.1702C>T (p.Leu568=)
c.2131C>T (p.Leu711=)
ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
18g.31070845G>CCA402112582DSC2c.1702C>G (p.Leu568Val)
c.2131C>G (p.Leu711Val)
ClinVar
18g.31070845G=CA2293646697DSC2c.1702C= (p.Leu568=)
c.2131C= (p.Leu711=)
18g.31070845G>TCA402112581DSC2c.1702C>A (p.Leu568Met)
c.2131C>A (p.Leu711Met)
18g.31070846G>ACA503384776DSC2c.1701C>T (p.Ile567=)
c.2130C>T (p.Ile710=)
dbSNP gnomAD v2 gnomAD v4
18g.31070846G>CCA402112583DSC2c.1701C>G (p.Ile567Met)
c.2130C>G (p.Ile710Met)
18g.31070846G=CA2293646698DSC2c.1701C= (p.Ile567=)
c.2130C= (p.Ile710=)
18g.31070846G>TCA503384777DSC2c.1701C>A (p.Ile567=)
c.2130C>A (p.Ile710=)
18g.31070847A=CA2293646699DSC2c.1700T= (p.Ile567=)
c.2129T= (p.Ile710=)
18g.31070847A>CCA402112585DSC2c.1700T>G (p.Ile567Ser)
c.2129T>G (p.Ile710Ser)
dbSNP
18g.31070847A>GCA402112584DSC2c.1700T>C (p.Ile567Thr)
c.2129T>C (p.Ile710Thr)
18g.31070847A>TCA402112586DSC2c.1700T>A (p.Ile567Asn)
c.2129T>A (p.Ile710Asn)
18g.31070848T>ACA034955DSC2c.1699A>T (p.Ile567Phe)
c.2128A>T (p.Ile710Phe)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.31070848T>CCA402112587DSC2c.1699A>G (p.Ile567Val)
c.2128A>G (p.Ile710Val)
ClinVar
18g.31070848T>GCA402112588DSC2c.1699A>C (p.Ile567Leu)
c.2128A>C (p.Ile710Leu)
18g.31070848T=CA2293646700DSC2c.1699A= (p.Ile567=)
c.2128A= (p.Ile710=)
18g.31070849G>ACA503384778DSC2c.1698C>T (p.Cys566=)
c.2127C>T (p.Cys709=)
18g.31070849G>CCA402112589DSC2c.1698C>G (p.Cys566Trp)
c.2127C>G (p.Cys709Trp)
18g.31070849G>TCA402112590DSC2c.1698C>A (p.Cys566Ter)
c.2127C>A (p.Cys709Ter)
18g.31070849_31070850delinsGCCA2293646701DSC2c.1697_1698delinsGC (p.Cys566=)
c.2126_2127delinsGC (p.Cys709=)
18g.31070850C>ACA402112591DSC2c.1697G>T (p.Cys566Phe)
c.2126G>T (p.Cys709Phe)
18g.31070850C=CA2293646702DSC2c.1697G= (p.Cys566=)
c.2126G= (p.Cys709=)
18g.31070850C>GCA402112592DSC2c.1697G>C (p.Cys566Ser)
c.2126G>C (p.Cys709Ser)
ClinVar dbSNP
18g.31070850C>TCA034945DSC2c.1697G>A (p.Cys566Tyr)
c.2126G>A (p.Cys709Tyr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31070851delCA034927DSC2c.1697del
c.2126del
dbSNP ExAC gnomAD v2
18g.31070851C>ACA402112593DSC2c.1697-1G>T (n.1697-1G>T)
c.2126-1G>T (n.2126-1G>T)
18g.31070851C>GCA402112594DSC2c.1697-1G>C (n.1697-1G>C)
c.2126-1G>C (n.2126-1G>C)
18g.31070851C>TCA402112595DSC2c.1697-1G>A (n.1697-1G>A)
c.2126-1G>A (n.2126-1G>A)
18g.31070852T>ACA402112598DSC2c.1697-2A>T (n.1697-2A>T)
c.2126-2A>T (n.2126-2A>T)
18g.31070852T>CCA402112596DSC2c.1697-2A>G (n.1697-2A>G)
c.2126-2A>G (n.2126-2A>G)
18g.31070852T>GCA402112597DSC2c.1697-2A>C (n.1697-2A>C)
c.2126-2A>C (n.2126-2A>C)
18g.31070854G>CCA2641388155DSC2c.1697-4C>G (n.1697-4C>G)
c.2126-4C>G (n.2126-4C>G)
gnomAD v4
18g.31070854G>TCA2573155206DSC2c.1697-4C>A (n.1697-4C>A)
c.2126-4C>A (n.2126-4C>A)
ClinVar dbSNP gnomAD v4
18g.31070856G>ACA2580095618DSC2c.1697-6C>T (n.1697-6C>T)
c.2126-6C>T (n.2126-6C>T)
ClinVar gnomAD v4
18g.31070857G>CCA297687921DSC2c.1697-7C>G (n.1697-7C>G)
c.2126-7C>G (n.2126-7C>G)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.31070857G=CA2293646704DSC2c.1697-7C= (n.1697-7C=)
c.2126-7C= (n.2126-7C=)
18g.31070857_31070861delinsGAAGACA2293646703DSC2c.1697-11_1697-7delinsTCTTC (n.1697-11_1697-7delinsTCTTC)
c.2126-11_2126-7delinsTCTTC (n.2126-11_2126-7delinsTCTTC)
18g.31070864_31070867delCA629140448DSC2c.1697-11_1697-8del (n.1697-11_1697-8del)
c.2126-11_2126-8del (n.2126-11_2126-8del)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.31070859A>GCA2641388174DSC2c.1697-9T>C (n.1697-9T>C)
c.2126-9T>C (n.2126-9T>C)
gnomAD v4
18g.31070860G=CA2293646705DSC2c.1697-10C= (n.1697-10C=)
c.2126-10C= (n.2126-10C=)
18g.31070860G>TCA034813DSC2c.1697-10C>A (n.1697-10C>A)
c.2126-10C>A (n.2126-10C>A)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.31070861A=CA2293646706DSC2c.1697-11T= (n.1697-11T=)
c.2126-11T= (n.2126-11T=)
18g.31070861A>GCA778393371DSC2c.1697-11T>C (n.1697-11T>C)
c.2126-11T>C (n.2126-11T>C)
ClinVar dbSNP gnomAD v3 gnomAD v4
18g.31070863A=CA2293646707DSC2c.1697-13T= (n.1697-13T=)
c.2126-13T= (n.2126-13T=)
18g.31070863A>GCA629140449DSC2c.1697-13T>C (n.1697-13T>C)
c.2126-13T>C (n.2126-13T>C)
dbSNP gnomAD v2 gnomAD v4
18g.31070864G>ACA297687927DSC2c.1697-14C>T (n.1697-14C>T)
c.2126-14C>T (n.2126-14C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.31070864G=CA2293646708DSC2c.1697-14C= (n.1697-14C=)
c.2126-14C= (n.2126-14C=)
18g.31070867dupCA778393395DSC2c.1697-15dup (n.1697-15dup)
c.2126-15dup (n.2126-15dup)
ClinVar dbSNP gnomAD v3 gnomAD v4
18g.31070866A>CCA2641388199DSC2c.1697-16T>G (n.1697-16T>G)
c.2126-16T>G (n.2126-16T>G)
gnomAD v4
18g.31070867A=CA2293646709DSC2c.1697-17T= (n.1697-17T=)
c.2126-17T= (n.2126-17T=)
18g.31070867A>CCA2293646710DSC2c.1697-17T>G (n.1697-17T>G)
c.2126-17T>G (n.2126-17T>G)
dbSNP gnomAD v4
18g.31070868T>CCA2293646711DSC2c.1697-18A>G (n.1697-18A>G)
c.2126-18A>G (n.2126-18A>G)
dbSNP
18g.31070868T=CA2293646712DSC2c.1697-18A= (n.1697-18A=)
c.2126-18A= (n.2126-18A=)
18g.31070869A=CA2293646713DSC2c.1697-19T= (n.1697-19T=)
c.2126-19T= (n.2126-19T=)
18g.31070869A>GCA988890091DSC2c.1697-19T>C (n.1697-19T>C)
c.2126-19T>C (n.2126-19T>C)
dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched