Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.615966_615968dupCA9018840HCN2c.2162_2164dup (p.Pro721_Gln722insPro)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.615963_615968dupCA9018844HCN2c.2159_2164dup (p.Pro721_Gln722insProPro)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.615960_615968dupCA303930382HCN2c.2156_2164dup (p.Pro721_Gln722insProProPro)
ClinVar dbSNP gnomAD v3 gnomAD v4
19g.615957_615968dupCA2317212784HCN2c.2153_2164dup (p.Pro721_Gln722insProProProPro)
dbSNP gnomAD v4
19g.615954_615968dupCA2587753786HCN2c.2150_2164dup (p.Pro721_Gln722insProProProProPro)
gnomAD v4
19g.615966_615968delCA9018843HCN2c.2162_2164del (p.Pro721del)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.615963_615968delCA9018842HCN2c.2159_2164del (p.Pro720_Pro721del)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.615960_615968delCA9018841HCN2c.2156_2164del (p.Pro719_Pro721del)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.615957_615968delCA9018845HCN2c.2153_2164del (p.Pro718_Pro721del)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.615954_615968delCA2587753785HCN2c.2150_2164del (p.Pro717_Pro721del)
gnomAD v4
19g.615957_615969delinsCGCCGCCGCCGCACA2317212793HCN2c.2153_2165delinsCGCCGCCGCCGCA (p.Pro718=)
19g.615959_615970delCA884073863HCN2c.2155_2166del (p.Pro719_Gln722del)
dbSNP gnomAD v4
19g.615960C>ACA402886841HCN2c.2156C>A (p.Pro719Gln)
19g.615960C=CA2317212796HCN2c.2156C= (p.Pro719=)
19g.615960C>GCA402886843HCN2c.2156C>G (p.Pro719Arg)
19g.615960C>TCA303930447HCN2c.2156C>T (p.Pro719Leu)
dbSNP gnomAD v4
19g.615960_615969delinsCGCCGCCGCACA2317212797HCN2c.2156_2165delinsCGCCGCCGCA (p.Pro719=)
19g.615966_616070delCA2587753787HCN2c.2162_2266del (p.Pro721_Pro755del)
gnomAD v4
19g.615961delCA2842851852HCN2c.2157del (p.Pro720ArgfsTer17)
19g.615961G>ACA504875779HCN2c.2157G>A (p.Pro719=)
dbSNP gnomAD v3 gnomAD v4 COSMIC
19g.615961G>CCA504875777HCN2c.2157G>C (p.Pro719=)
19g.615961G=CA2317212798HCN2c.2157G= (p.Pro719=)
19g.615961G>TCA504875778HCN2c.2157G>T (p.Pro719=)
19g.615962_615970delCA9018857HCN2c.2158_2166del (p.Pro720_Gln722del)
dbSNP ExAC
19g.615962C>ACA402886846HCN2c.2158C>A (p.Pro720Thr)
gnomAD v4
19g.615962C=CA2317212799HCN2c.2158C= (p.Pro720=)
19g.615962C>GCA402886848HCN2c.2158C>G (p.Pro720Ala)
19g.615962C>TCA402886849HCN2c.2158C>T (p.Pro720Ser)
dbSNP gnomAD v3 gnomAD v4
19g.615963C>ACA402886851HCN2c.2159C>A (p.Pro720Gln)
19g.615963C=CA2317212801HCN2c.2159C= (p.Pro720=)
19g.615963C>GCA402886852HCN2c.2159C>G (p.Pro720Arg)
19g.615963C>TCA402886853HCN2c.2159C>T (p.Pro720Leu)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.615963_615964insTTCCA631293049HCN2c.2159_2160insTTC (p.Pro720_Pro721insSer)
dbSNP gnomAD v2 gnomAD v4
19g.615963_615969delinsCGCCGCACA2317212800HCN2c.2159_2165delinsCGCCGCA (p.Pro720=)
19g.615964G>ACA504875787HCN2c.2160G>A (p.Pro720=)
dbSNP gnomAD v3 gnomAD v4
19g.615964G>CCA504875788HCN2c.2160G>C (p.Pro720=)
19g.615964G=CA2317212803HCN2c.2160G= (p.Pro720=)
19g.615964G>TCA504875786HCN2c.2160G>T (p.Pro720=)
gnomAD v4
19g.615965_615970dupCA9018858HCN2c.2161_2166dup (p.Gln722_Val723insProGln)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.615965_615970delCA2317212804HCN2c.2161_2166del (p.Pro721_Gln722del)
dbSNP gnomAD v4
19g.615964_616021delinsGCCGCAGGTCACCTCGGCCATCGCCACGCTGCAGCAGGCGGCGGCCATGAGCTTCTGCCA2317212802HCN2c.2160_2217delinsGCCGCAGGTCACCTCGGCCATCGCCACGCTGCAGCAGGCGGCGGCCATGAGCTTCTGC (p.Pro720=)
19g.615965C>ACA402886857HCN2c.2161C>A (p.Pro721Thr)
19g.615965C>GCA402886859HCN2c.2161C>G (p.Pro721Ala)
19g.615965C>TCA402886862HCN2c.2161C>T (p.Pro721Ser)
gnomAD v4
19g.615973_616029delCA9018859HCN2c.2169_2225del (p.Thr724_Val742del)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.615966C>ACA402886883HCN2c.2162C>A (p.Pro721Gln)
19g.615966C=CA2317212805HCN2c.2162C= (p.Pro721=)
19g.615966C>GCA402886873HCN2c.2162C>G (p.Pro721Arg)
19g.615966C>TCA9018860HCN2c.2162C>T (p.Pro721Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.615967G>ACA504875792HCN2c.2163G>A (p.Pro721=)
dbSNP gnomAD v2 gnomAD v4
19g.615967G>CCA504875794HCN2c.2163G>C (p.Pro721=)
19g.615967G=CA2317212806HCN2c.2163G= (p.Pro721=)
19g.615967G>TCA504875795HCN2c.2163G>T (p.Pro721=)
gnomAD v4
19g.615968_615970delCA2587753788HCN2c.2164_2166del (p.Gln722del)
gnomAD v4
19g.615968C>ACA402886885HCN2c.2164C>A (p.Gln722Lys)
19g.615968C>GCA402886888HCN2c.2164C>G (p.Gln722Glu)
19g.615968C>TCA402886893HCN2c.2164C>T (p.Gln722Ter)
19g.615969A=CA2317212807HCN2c.2165A= (p.Gln722=)
19g.615969A>CCA9018861HCN2c.2165A>C (p.Gln722Pro)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.615969A>GCA402886898HCN2c.2165A>G (p.Gln722Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.615969A>TCA402886902HCN2c.2165A>T (p.Gln722Leu)
gnomAD v4
19g.615970G>ACA504875799HCN2c.2166G>A (p.Gln722=)
gnomAD v4
19g.615970G>CCA402886904HCN2c.2166G>C (p.Gln722His)
19g.615970G>TCA402886906HCN2c.2166G>T (p.Gln722His)
19g.615971G>ACA9018862HCN2c.2167G>A (p.Val723Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.615971G>CCA402886912HCN2c.2167G>C (p.Val723Leu)
dbSNP gnomAD v3 gnomAD v4
19g.615971G=CA2317212808HCN2c.2167G= (p.Val723=)
19g.615971G>TCA402886914HCN2c.2167G>T (p.Val723Phe)
19g.615972T>ACA402886921HCN2c.2168T>A (p.Val723Asp)
19g.615972T>CCA402886923HCN2c.2168T>C (p.Val723Ala)
dbSNP gnomAD v3 gnomAD v4
19g.615972T>GCA402886918HCN2c.2168T>G (p.Val723Gly)
19g.615972T=CA2317212809HCN2c.2168T= (p.Val723=)
19g.615973C>ACA504875803HCN2c.2169C>A (p.Val723=)
19g.615973C>GCA504875804HCN2c.2169C>G (p.Val723=)
19g.615973C>TCA504875806HCN2c.2169C>T (p.Val723=)
gnomAD v4
19g.615974A=CA2317212810HCN2c.2170A= (p.Thr724=)
19g.615974A>CCA9018863HCN2c.2170A>C (p.Thr724Pro)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.615974A>GCA402886931HCN2c.2170A>G (p.Thr724Ala)
dbSNP
19g.615974A>TCA402886934HCN2c.2170A>T (p.Thr724Ser)
19g.615975C>ACA9018864HCN2c.2171C>A (p.Thr724Asn)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.615975C=CA2317212811HCN2c.2171C= (p.Thr724=)
19g.615975C>GCA402886935HCN2c.2171C>G (p.Thr724Ser)
19g.615975C>TCA402886936HCN2c.2171C>T (p.Thr724Ile)
dbSNP gnomAD v2 gnomAD v4
19g.615977_615988delCA2576660326HCN2c.2173_2184del (p.Ser725_Ala728del)
19g.615976C>ACA504875812HCN2c.2172C>A (p.Thr724=)
19g.615976C=CA2317212812HCN2c.2172C= (p.Thr724=)
19g.615976C>GCA504875814HCN2c.2172C>G (p.Thr724=)
19g.615976C>TCA9018865HCN2c.2172C>T (p.Thr724=)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.615977T>ACA402886937HCN2c.2173T>A (p.Ser725Thr)
19g.615977T>CCA402886938HCN2c.2173T>C (p.Ser725Pro)
19g.615977T>GCA402886940HCN2c.2173T>G (p.Ser725Ala)
19g.615978C>ACA402886942HCN2c.2174C>A (p.Ser725Ter)
19g.615978C>GCA402886945HCN2c.2174C>G (p.Ser725Trp)
19g.615978C>TCA402886946HCN2c.2174C>T (p.Ser725Leu)
19g.615979G>ACA9018867HCN2c.2175G>A (p.Ser725=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.615979G>CCA504875818HCN2c.2175G>C (p.Ser725=)
gnomAD v4
19g.615979G=CA2317212813HCN2c.2175G= (p.Ser725=)
19g.615979G>TCA9018866HCN2c.2175G>T (p.Ser725=)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.615980G>ACA402886955HCN2c.2176G>A (p.Ala726Thr)
dbSNP gnomAD v3 gnomAD v4
19g.615980G>CCA402886956HCN2c.2176G>C (p.Ala726Pro)
19g.615980G=CA2317212814HCN2c.2176G= (p.Ala726=)
19g.615980G>TCA402886959HCN2c.2176G>T (p.Ala726Ser)
19g.615981C>ACA402886964HCN2c.2177C>A (p.Ala726Asp)
19g.615981C=CA2317212815HCN2c.2177C= (p.Ala726=)
19g.615981C>GCA402886966HCN2c.2177C>G (p.Ala726Gly)
19g.615981C>TCA9018868HCN2c.2177C>T (p.Ala726Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.615982C>ACA504875823HCN2c.2178C>A (p.Ala726=)
19g.615982C=CA2317212816HCN2c.2178C= (p.Ala726=)
19g.615982C>GCA504875824HCN2c.2178C>G (p.Ala726=)
19g.615982C>TCA504875825HCN2c.2178C>T (p.Ala726=)
dbSNP gnomAD v3 gnomAD v4
19g.615983A=CA2317212817HCN2c.2179A= (p.Ile727=)
19g.615983A>CCA9018869HCN2c.2179A>C (p.Ile727Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.615983A>GCA303930507HCN2c.2179A>G (p.Ile727Val)
dbSNP
19g.615983A>TCA402886977HCN2c.2179A>T (p.Ile727Phe)
19g.615984T>ACA9018870HCN2c.2180T>A (p.Ile727Asn)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.615984T>CCA402886978HCN2c.2180T>C (p.Ile727Thr)
19g.615984T>GCA402886980HCN2c.2180T>G (p.Ile727Ser)
19g.615984T=CA2317212818HCN2c.2180T= (p.Ile727=)
19g.615985C>ACA504875697HCN2c.2181C>A (p.Ile727=)
19g.615985C=CA2317212819HCN2c.2181C= (p.Ile727=)
19g.615985C>GCA402886982HCN2c.2181C>G (p.Ile727Met)
19g.615985C>TCA9018871HCN2c.2181C>T (p.Ile727=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.615986G>ACA9018872HCN2c.2182G>A (p.Ala728Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.615986G>CCA402886994HCN2c.2182G>C (p.Ala728Pro)
19g.615986G=CA2317212820HCN2c.2182G= (p.Ala728=)
19g.615986G>TCA402886989HCN2c.2182G>T (p.Ala728Ser)
19g.615987C>ACA402886997HCN2c.2183C>A (p.Ala728Asp)
gnomAD v4
19g.615987C>GCA402887004HCN2c.2183C>G (p.Ala728Gly)
19g.615987C>TCA402887001HCN2c.2183C>T (p.Ala728Val)
19g.615988C>ACA504875708HCN2c.2184C>A (p.Ala728=)
19g.615988C>GCA504875707HCN2c.2184C>G (p.Ala728=)
19g.615988C>TCA504875706HCN2c.2184C>T (p.Ala728=)
19g.615989A=CA2317212821HCN2c.2185A= (p.Thr729=)
19g.615989A>CCA402887007HCN2c.2185A>C (p.Thr729Pro)
19g.615989A>GCA402887010HCN2c.2185A>G (p.Thr729Ala)
dbSNP
19g.615989A>TCA402887009HCN2c.2185A>T (p.Thr729Ser)
dbSNP gnomAD v2 gnomAD v4
19g.615990C>ACA402887014HCN2c.2186C>A (p.Thr729Lys)
19g.615990C=CA2317212822HCN2c.2186C= (p.Thr729=)
19g.615990C>GCA402887024HCN2c.2186C>G (p.Thr729Arg)
gnomAD v4
19g.615990C>TCA402887018HCN2c.2186C>T (p.Thr729Met)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.615991G>ACA504875713HCN2c.2187G>A (p.Thr729=)
dbSNP gnomAD v2 gnomAD v4 COSMIC
19g.615991G>CCA504875717HCN2c.2187G>C (p.Thr729=)
gnomAD v4
19g.615991G=CA2317212823HCN2c.2187G= (p.Thr729=)
19g.615991G>TCA504875715HCN2c.2187G>T (p.Thr729=)
19g.615992C>ACA402887027HCN2c.2188C>A (p.Leu730Met)
19g.615992C=CA2317212824HCN2c.2188C= (p.Leu730=)
19g.615992C>GCA402887031HCN2c.2188C>G (p.Leu730Val)
dbSNP
19g.615992C>TCA9018873HCN2c.2188C>T (p.Leu730=)
dbSNP ExAC gnomAD v4
19g.615993T>ACA402887032HCN2c.2189T>A (p.Leu730Gln)
19g.615993T>CCA402887035HCN2c.2189T>C (p.Leu730Pro)
19g.615993T>GCA9018874HCN2c.2189T>G (p.Leu730Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.615993T=CA2317212825HCN2c.2189T= (p.Leu730=)
19g.615994G>ACA504875719HCN2c.2190G>A (p.Leu730=)
gnomAD v4
19g.615994G>CCA504875720HCN2c.2190G>C (p.Leu730=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.615994G=CA2317212826HCN2c.2190G= (p.Leu730=)
19g.615994G>TCA504875721HCN2c.2190G>T (p.Leu730=)
19g.615995C>ACA402887037HCN2c.2191C>A (p.Gln731Lys)
gnomAD v4
19g.615995C>GCA402887042HCN2c.2191C>G (p.Gln731Glu)
19g.615995C>TCA402887040HCN2c.2191C>T (p.Gln731Ter)
gnomAD v4
19g.615996A>CCA402887044HCN2c.2192A>C (p.Gln731Pro)
19g.615996A>GCA402887060HCN2c.2192A>G (p.Gln731Arg)
19g.615996A>TCA402887057HCN2c.2192A>T (p.Gln731Leu)
gnomAD v4
19g.615997G>ACA504875726HCN2c.2193G>A (p.Gln731=)
dbSNP gnomAD v2 gnomAD v4
19g.615997G>CCA402887063HCN2c.2193G>C (p.Gln731His)
19g.615997G=CA2317212827HCN2c.2193G= (p.Gln731=)
19g.615997G>TCA402887065HCN2c.2193G>T (p.Gln731His)
19g.615998C>ACA402887069HCN2c.2194C>A (p.Gln732Lys)
dbSNP gnomAD v3 gnomAD v4
19g.615998C=CA2317212828HCN2c.2194C= (p.Gln732=)
19g.615998C>GCA402887073HCN2c.2194C>G (p.Gln732Glu)
19g.615998C>TCA402887087HCN2c.2194C>T (p.Gln732Ter)
gnomAD v4
19g.615999A>CCA402887091HCN2c.2195A>C (p.Gln732Pro)
19g.615999A>GCA402887092HCN2c.2195A>G (p.Gln732Arg)
19g.615999A>TCA402887095HCN2c.2195A>T (p.Gln732Leu)
19g.616000G>ACA9018875HCN2c.2196G>A (p.Gln732=)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.616000G>CCA402887103HCN2c.2196G>C (p.Gln732His)
19g.616000G=CA2317212829HCN2c.2196G= (p.Gln732=)
19g.616000G>TCA402887109HCN2c.2196G>T (p.Gln732His)
19g.616001G>ACA303930553HCN2c.2197G>A (p.Ala733Thr)
dbSNP gnomAD v4
19g.616001G>CCA402887112HCN2c.2197G>C (p.Ala733Pro)
19g.616001G=CA2317212830HCN2c.2197G= (p.Ala733=)
19g.616001G>TCA402887114HCN2c.2197G>T (p.Ala733Ser)
19g.616002C>ACA402887115HCN2c.2198C>A (p.Ala733Glu)
19g.616002C=CA2317212831HCN2c.2198C= (p.Ala733=)
19g.616002C>GCA402887117HCN2c.2198C>G (p.Ala733Gly)
gnomAD v4
19g.616002C>TCA303930555HCN2c.2198C>T (p.Ala733Val)
dbSNP gnomAD v2 gnomAD v4
19g.616003G>ACA9018876HCN2c.2199G>A (p.Ala733=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.616003G>CCA504875733HCN2c.2199G>C (p.Ala733=)
dbSNP gnomAD v2
19g.616003G=CA2317212832HCN2c.2199G= (p.Ala733=)
19g.616003G>TCA504875734HCN2c.2199G>T (p.Ala733=)
19g.616004G>ACA303930560HCN2c.2200G>A (p.Ala734Thr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.616004G>CCA402887122HCN2c.2200G>C (p.Ala734Pro)
19g.616004G=CA2317212833HCN2c.2200G= (p.Ala734=)
19g.616004G>TCA402887124HCN2c.2200G>T (p.Ala734Ser)
19g.616005C>ACA402887127HCN2c.2201C>A (p.Ala734Glu)
gnomAD v4
19g.616005C=CA2317212834HCN2c.2201C= (p.Ala734=)
19g.616005C>GCA402887144HCN2c.2201C>G (p.Ala734Gly)
19g.616005C>TCA9018877HCN2c.2201C>T (p.Ala734Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.616006G>ACA504875740HCN2c.2202G>A (p.Ala734=)
19g.616006G>CCA504875739HCN2c.2202G>C (p.Ala734=)
19g.616006G>TCA504875738HCN2c.2202G>T (p.Ala734=)
19g.616007G>ACA9018878HCN2c.2203G>A (p.Ala735Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.616007G>CCA402887150HCN2c.2203G>C (p.Ala735Pro)
19g.616007G=CA2317212835HCN2c.2203G= (p.Ala735=)
19g.616007G>TCA402887147HCN2c.2203G>T (p.Ala735Ser)
19g.616008C>ACA402887153HCN2c.2204C>A (p.Ala735Asp)
19g.616008C=CA2317212836HCN2c.2204C= (p.Ala735=)
19g.616008C>GCA402887156HCN2c.2204C>G (p.Ala735Gly)
19g.616008C>TCA402887158HCN2c.2204C>T (p.Ala735Val)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.616009C>ACA504875742HCN2c.2205C>A (p.Ala735=)
19g.616009C=CA2317212837HCN2c.2205C= (p.Ala735=)
19g.616009C>GCA504875744HCN2c.2205C>G (p.Ala735=)
19g.616009C>TCA504875746HCN2c.2205C>T (p.Ala735=)
dbSNP gnomAD v2 gnomAD v4
19g.616010A=CA2317212838HCN2c.2206A= (p.Met736=)
19g.616010A>CCA402887161HCN2c.2206A>C (p.Met736Leu)
gnomAD v4
19g.616010A>GCA402887165HCN2c.2206A>G (p.Met736Val)
dbSNP gnomAD v4
19g.616010A>TCA402887169HCN2c.2206A>T (p.Met736Leu)
19g.616011T>ACA402887172HCN2c.2207T>A (p.Met736Lys)
19g.616011T>CCA402887175HCN2c.2207T>C (p.Met736Thr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.616011T>GCA402887178HCN2c.2207T>G (p.Met736Arg)
gnomAD v4
19g.616011T=CA2317212839HCN2c.2207T= (p.Met736=)
19g.616012G>ACA402887182HCN2c.2208G>A (p.Met736Ile)
dbSNP gnomAD v3 gnomAD v4
19g.616012G>CCA402887183HCN2c.2208G>C (p.Met736Ile)
19g.616012G=CA2317212840HCN2c.2208G= (p.Met736=)
19g.616012G>TCA402887185HCN2c.2208G>T (p.Met736Ile)
19g.616013A>CCA402887192HCN2c.2209A>C (p.Ser737Arg)
19g.616013A>GCA402887186HCN2c.2209A>G (p.Ser737Gly)
19g.616013A>TCA402887188HCN2c.2209A>T (p.Ser737Cys)
19g.616014G>ACA402887196HCN2c.2210G>A (p.Ser737Asn)
gnomAD v4
19g.616014G>CCA402887199HCN2c.2210G>C (p.Ser737Thr)
19g.616014G>TCA402887202HCN2c.2210G>T (p.Ser737Ile)
19g.616015C>ACA402887210HCN2c.2211C>A (p.Ser737Arg)
gnomAD v4
19g.616015C>GCA402887213HCN2c.2211C>G (p.Ser737Arg)
19g.616015C>TCA504875750HCN2c.2211C>T (p.Ser737=)
gnomAD v4
19g.616016T>ACA402887223HCN2c.2212T>A (p.Phe738Ile)
19g.616016T>CCA402887224HCN2c.2212T>C (p.Phe738Leu)
dbSNP gnomAD v2
19g.616016T>GCA402887226HCN2c.2212T>G (p.Phe738Val)
19g.616016T=CA2317212841HCN2c.2212T= (p.Phe738=)
19g.616017T>ACA402887231HCN2c.2213T>A (p.Phe738Tyr)
19g.616017T>CCA402887234HCN2c.2213T>C (p.Phe738Ser)
19g.616017T>GCA303930562HCN2c.2213T>G (p.Phe738Cys)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.616017T=CA2317212842HCN2c.2213T= (p.Phe738=)
19g.616018C>ACA402887241HCN2c.2214C>A (p.Phe738Leu)
dbSNP gnomAD v4
19g.616018C=CA2317212843HCN2c.2214C= (p.Phe738=)
19g.616018C>GCA402887244HCN2c.2214C>G (p.Phe738Leu)
gnomAD v4
19g.616018C>TCA504875751HCN2c.2214C>T (p.Phe738=)
dbSNP
19g.616019T>ACA402887246HCN2c.2215T>A (p.Cys739Ser)
19g.616019T>CCA402887251HCN2c.2215T>C (p.Cys739Arg)
gnomAD v4
19g.616019T>GCA402887249HCN2c.2215T>G (p.Cys739Gly)
dbSNP
19g.616019T=CA2317212844HCN2c.2215T= (p.Cys739=)
19g.616020G>ACA402887254HCN2c.2216G>A (p.Cys739Tyr)
dbSNP gnomAD v3 gnomAD v4
19g.616020G>CCA402887257HCN2c.2216G>C (p.Cys739Ser)
19g.616020G=CA2317212845HCN2c.2216G= (p.Cys739=)
19g.616020G>TCA402887260HCN2c.2216G>T (p.Cys739Phe)
19g.616021C>ACA402887262HCN2c.2217C>A (p.Cys739Ter)
gnomAD v4
19g.616021C=CA2317212846HCN2c.2217C= (p.Cys739=)
19g.616021C>GCA402887264HCN2c.2217C>G (p.Cys739Trp)
19g.616021C>TCA9018879HCN2c.2217C>T (p.Cys739=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.616022C>ACA402887268HCN2c.2218C>A (p.Pro740Thr)
dbSNP gnomAD v3 gnomAD v4
19g.616022C=CA2317212847HCN2c.2218C= (p.Pro740=)
19g.616022C>GCA402887269HCN2c.2218C>G (p.Pro740Ala)
19g.616022C>TCA402887270HCN2c.2218C>T (p.Pro740Ser)
dbSNP gnomAD v2 gnomAD v4
19g.616023C>ACA402887271HCN2c.2219C>A (p.Pro740Gln)
gnomAD v4
19g.616023C=CA2317212848HCN2c.2219C= (p.Pro740=)
19g.616023C>GCA402887273HCN2c.2219C>G (p.Pro740Arg)
gnomAD v4
19g.616023C>TCA9018880HCN2c.2219C>T (p.Pro740Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.616024G>ACA9018881HCN2c.2220G>A (p.Pro740=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.616024G>CCA504875755HCN2c.2220G>C (p.Pro740=)
dbSNP gnomAD v3 gnomAD v4
19g.616024G=CA2317212849HCN2c.2220G= (p.Pro740=)
19g.616024G>TCA504875756HCN2c.2220G>T (p.Pro740=)
19g.616026_616037dupCA884073949HCN2c.2222_2233dup (p.Arg744_Pro745insGlnValAlaArg)
dbSNP gnomAD v3 gnomAD v4
19g.616025C>ACA402887274HCN2c.2221C>A (p.Gln741Lys)
gnomAD v4
19g.616025C>GCA402887275HCN2c.2221C>G (p.Gln741Glu)
19g.616025C>TCA402887276HCN2c.2221C>T (p.Gln741Ter)
19g.616026A>CCA402887277HCN2c.2222A>C (p.Gln741Pro)
19g.616026A>GCA402887278HCN2c.2222A>G (p.Gln741Arg)
gnomAD v4
19g.616026A>TCA402887279HCN2c.2222A>T (p.Gln741Leu)
19g.616027G>ACA504875758HCN2c.2223G>A (p.Gln741=)
19g.616027G>CCA402887287HCN2c.2223G>C (p.Gln741His)
dbSNP gnomAD v2 gnomAD v4
19g.616027G=CA2317212850HCN2c.2223G= (p.Gln741=)
19g.616027G>TCA402887289HCN2c.2223G>T (p.Gln741His)
19g.616028G>ACA9018882HCN2c.2224G>A (p.Val742Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.616028G>CCA402887290HCN2c.2224G>C (p.Val742Leu)
gnomAD v4
19g.616028G=CA2317212851HCN2c.2224G= (p.Val742=)
19g.616028G>TCA402887291HCN2c.2224G>T (p.Val742Leu)
dbSNP
19g.616029T>ACA402887294HCN2c.2225T>A (p.Val742Glu)
19g.616029T>CCA402887293HCN2c.2225T>C (p.Val742Ala)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.616029T>GCA402887292HCN2c.2225T>G (p.Val742Gly)
19g.616029T=CA2317212852HCN2c.2225T= (p.Val742=)
19g.616030G>ACA504875764HCN2c.2226G>A (p.Val742=)
dbSNP gnomAD v2 gnomAD v4
19g.616030G>CCA504875765HCN2c.2226G>C (p.Val742=)
19g.616030G=CA2317212853HCN2c.2226G= (p.Val742=)
19g.616030G>TCA504875766HCN2c.2226G>T (p.Val742=)
gnomAD v4
19g.616031G>ACA402887302HCN2c.2227G>A (p.Ala743Thr)
dbSNP
19g.616031G>CCA402887303HCN2c.2227G>C (p.Ala743Pro)
dbSNP gnomAD v3 gnomAD v4
19g.616031G=CA2317212854HCN2c.2227G= (p.Ala743=)
19g.616031G>TCA402887305HCN2c.2227G>T (p.Ala743Ser)
gnomAD v4
19g.616032C>ACA402887306HCN2c.2228C>A (p.Ala743Glu)
19g.616032C=CA2317212855HCN2c.2228C= (p.Ala743=)
19g.616032C>GCA402887309HCN2c.2228C>G (p.Ala743Gly)
19g.616032C>TCA9018883HCN2c.2228C>T (p.Ala743Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.616033G>ACA504875773HCN2c.2229G>A (p.Ala743=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.616033G>CCA504875774HCN2c.2229G>C (p.Ala743=)
19g.616033G=CA2317212856HCN2c.2229G= (p.Ala743=)
19g.616033G>TCA504875775HCN2c.2229G>T (p.Ala743=)
19g.616035_616049delCA2576537147HCN2c.2231_2245del (p.Arg744_Gly748del)
19g.616034C>ACA504875776HCN2c.2230C>A (p.Arg744=)
gnomAD v4
19g.616034C=CA2317212857HCN2c.2230C= (p.Arg744=)
19g.616034C>GCA402887314HCN2c.2230C>G (p.Arg744Gly)
dbSNP gnomAD v2 gnomAD v4
19g.616034C>TCA402887317HCN2c.2230C>T (p.Arg744Trp)
gnomAD v4
19g.616035G>ACA303930593HCN2c.2231G>A (p.Arg744Gln)
dbSNP gnomAD v3 gnomAD v4
19g.616035G>CCA402887321HCN2c.2231G>C (p.Arg744Pro)
gnomAD v4
19g.616035G=CA2317212858HCN2c.2231G= (p.Arg744=)
19g.616035G>TCA402887329HCN2c.2231G>T (p.Arg744Leu)
19g.616036G>ACA504875780HCN2c.2232G>A (p.Arg744=)
gnomAD v4
19g.616036G>CCA504875781HCN2c.2232G>C (p.Arg744=)
19g.616036G>TCA504875783HCN2c.2232G>T (p.Arg744=)
gnomAD v4
19g.616037C>ACA402887339HCN2c.2233C>A (p.Pro745Thr)
gnomAD v4
19g.616037C=CA2317212859HCN2c.2233C= (p.Pro745=)
19g.616037C>GCA402887338HCN2c.2233C>G (p.Pro745Ala)
dbSNP gnomAD v4
19g.616037C>TCA402887336HCN2c.2233C>T (p.Pro745Ser)
gnomAD v4
19g.616038C>ACA402887342HCN2c.2234C>A (p.Pro745Gln)
dbSNP
19g.616038C=CA2317212860HCN2c.2234C= (p.Pro745=)
19g.616038C>GCA402887344HCN2c.2234C>G (p.Pro745Arg)
19g.616038C>TCA402887345HCN2c.2234C>T (p.Pro745Leu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.616038_616045delCA2587753789HCN2c.2234_2241del (p.Pro745ArgfsTer?)
gnomAD v4
19g.616039G>ACA9018884HCN2c.2235G>A (p.Pro745=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.616039G>CCA504875790HCN2c.2235G>C (p.Pro745=)
19g.616039G=CA2317212861HCN2c.2235G= (p.Pro745=)
19g.616039G>TCA504875789HCN2c.2235G>T (p.Pro745=)
gnomAD v4
19g.616040C>ACA402887348HCN2c.2236C>A (p.Leu746Ile)
19g.616040C=CA2317212862HCN2c.2236C= (p.Leu746=)
19g.616040C>GCA402887350HCN2c.2236C>G (p.Leu746Val)
19g.616040C>TCA9018885HCN2c.2236C>T (p.Leu746Phe)
dbSNP ExAC gnomAD v3 gnomAD v4
19g.616041T>ACA402887351HCN2c.2237T>A (p.Leu746His)
19g.616041T>CCA303930597HCN2c.2237T>C (p.Leu746Pro)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.616041T>GCA402887353HCN2c.2237T>G (p.Leu746Arg)
19g.616041T=CA2317212863HCN2c.2237T= (p.Leu746=)
19g.616042C>ACA504875796HCN2c.2238C>A (p.Leu746=)
gnomAD v4
19g.616042C=CA2317212864HCN2c.2238C= (p.Leu746=)
19g.616042C>GCA504875797HCN2c.2238C>G (p.Leu746=)
dbSNP gnomAD v4
19g.616042C>TCA504875798HCN2c.2238C>T (p.Leu746=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.616043G>ACA402887355HCN2c.2239G>A (p.Val747Met)
dbSNP gnomAD v4
19g.616043G>CCA9018886HCN2c.2239G>C (p.Val747Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.616043G=CA2317212865HCN2c.2239G= (p.Val747=)
19g.616043G>TCA402887358HCN2c.2239G>T (p.Val747Leu)
dbSNP gnomAD v4
19g.616044T>ACA402887362HCN2c.2240T>A (p.Val747Glu)
ClinVar dbSNP gnomAD v3 gnomAD v4
19g.616044T>CCA402887364HCN2c.2240T>C (p.Val747Ala)
COSMIC
19g.616044T>GCA402887360HCN2c.2240T>G (p.Val747Gly)
dbSNP gnomAD v4
19g.616044T=CA2317212866HCN2c.2240T= (p.Val747=)
19g.616045G>ACA504875800HCN2c.2241G>A (p.Val747=)
dbSNP gnomAD v3 gnomAD v4
19g.616045G>CCA504875802HCN2c.2241G>C (p.Val747=)
19g.616045G=CA2317212867HCN2c.2241G= (p.Val747=)
19g.616045G>TCA504875805HCN2c.2241G>T (p.Val747=)
gnomAD v4
19g.616048delCA2587753790HCN2c.2244del (p.Pro749ArgfsTer?)
gnomAD v4
19g.616046G>ACA402887368HCN2c.2242G>A (p.Gly748Arg)
dbSNP gnomAD v4
19g.616046G>CCA402887366HCN2c.2242G>C (p.Gly748Arg)
ClinVar gnomAD v4
19g.616046G=CA2317212868HCN2c.2242G= (p.Gly748=)
19g.616046G>TCA402887369HCN2c.2242G>T (p.Gly748Trp)
19g.616047G>ACA402887371HCN2c.2243G>A (p.Gly748Glu)
gnomAD v4
19g.616047G>CCA402887372HCN2c.2243G>C (p.Gly748Ala)
gnomAD v4
19g.616047G>TCA402887374HCN2c.2243G>T (p.Gly748Val)
19g.616047_616079delinsGGCCGCTGGCGCTCGGCTCGCCGCGCCTCGTGCCA2317212869HCN2c.2243_2275delinsGGCCGCTGGCGCTCGGCTCGCCGCGCCTCGTGC (p.Gly748=)
19g.616048G>ACA504875808HCN2c.2244G>A (p.Gly748=)
gnomAD v4
19g.616048G>CCA504875809HCN2c.2244G>C (p.Gly748=)
19g.616048G>TCA504875811HCN2c.2244G>T (p.Gly748=)
19g.616053_616084delCA884073979HCN2c.2249_2280del (p.Leu750ProfsTer?)
dbSNP gnomAD v3 gnomAD v4
19g.616049C>ACA402887375HCN2c.2245C>A (p.Pro749Thr)
gnomAD v4
19g.616049C=CA2317212870HCN2c.2245C= (p.Pro749=)
19g.616049C>GCA402887376HCN2c.2245C>G (p.Pro749Ala)
19g.616049C>TCA402887378HCN2c.2245C>T (p.Pro749Ser)
dbSNP gnomAD v3 gnomAD v4
19g.616050delCA2587753791HCN2c.2246del (p.Pro749ArgfsTer?)
gnomAD v4
19g.616050C>ACA402887382HCN2c.2246C>A (p.Pro749Gln)
gnomAD v4
19g.616050C=CA2317212871HCN2c.2246C= (p.Pro749=)
19g.616050C>GCA402887380HCN2c.2246C>G (p.Pro749Arg)
19g.616050C>TCA402887381HCN2c.2246C>T (p.Pro749Leu)
dbSNP gnomAD v3 gnomAD v4
19g.616051G>ACA504875815HCN2c.2247G>A (p.Pro749=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.616051G>CCA504875816HCN2c.2247G>C (p.Pro749=)
gnomAD v4
19g.616051G=CA2317212872HCN2c.2247G= (p.Pro749=)
19g.616051G>TCA504875817HCN2c.2247G>T (p.Pro749=)
19g.616052C>ACA402887384HCN2c.2248C>A (p.Leu750Met)
gnomAD v4
19g.616052C>GCA402887388HCN2c.2248C>G (p.Leu750Val)
19g.616052C>TCA504875819HCN2c.2248C>T (p.Leu750=)
gnomAD v4
19g.616053T>ACA402887391HCN2c.2249T>A (p.Leu750Gln)
19g.616053T>CCA402887392HCN2c.2249T>C (p.Leu750Pro)
dbSNP gnomAD v4
19g.616053T>GCA402887393HCN2c.2249T>G (p.Leu750Arg)
19g.616054G>ACA504875820HCN2c.2250G>A (p.Leu750=)
gnomAD v4
19g.616054G>CCA504875821HCN2c.2250G>C (p.Leu750=)
19g.616054G>TCA504875822HCN2c.2250G>T (p.Leu750=)
gnomAD v4
19g.616055G>ACA303930604HCN2c.2251G>A (p.Ala751Thr)
dbSNP gnomAD v3 gnomAD v4
19g.616055G>CCA402887397HCN2c.2251G>C (p.Ala751Pro)
19g.616055G=CA2317212873HCN2c.2251G= (p.Ala751=)
19g.616055G>TCA402887395HCN2c.2251G>T (p.Ala751Ser)
19g.616057_616107delCA2587753792HCN2c.2253_2303del (p.Leu752_Ala768del)
gnomAD v4
19g.616056C>ACA402887399HCN2c.2252C>A (p.Ala751Glu)
gnomAD v4
19g.616056C=CA2317212874HCN2c.2252C= (p.Ala751=)
19g.616056C>GCA402887400HCN2c.2252C>G (p.Ala751Gly)
19g.616056C>TCA402887402HCN2c.2252C>T (p.Ala751Val)
dbSNP gnomAD v3 gnomAD v4
19g.616057G>ACA504875826HCN2c.2253G>A (p.Ala751=)
gnomAD v4
19g.616057G>CCA9018887HCN2c.2253G>C (p.Ala751=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.616057G=CA2317212875HCN2c.2253G= (p.Ala751=)
19g.616057G>TCA504875827HCN2c.2253G>T (p.Ala751=)
gnomAD v4
19g.616058C>ACA402887404HCN2c.2254C>A (p.Leu752Ile)
19g.616058C=CA2317212876HCN2c.2254C= (p.Leu752=)
19g.616058C>GCA402887406HCN2c.2254C>G (p.Leu752Val)
gnomAD v4
19g.616058C>TCA402887407HCN2c.2254C>T (p.Leu752Phe)
dbSNP
19g.616059T>ACA402887408HCN2c.2255T>A (p.Leu752His)
19g.616059T>CCA402887409HCN2c.2255T>C (p.Leu752Pro)
19g.616059T>GCA402887411HCN2c.2255T>G (p.Leu752Arg)
19g.616060C>ACA504875828HCN2c.2256C>A (p.Leu752=)
dbSNP gnomAD v4
19g.616060C=CA2317212877HCN2c.2256C= (p.Leu752=)
19g.616060C>GCA504875829HCN2c.2256C>G (p.Leu752=)
dbSNP gnomAD v3 gnomAD v4
19g.616060C>TCA504875830HCN2c.2256C>T (p.Leu752=)
dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched