Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.40396123_40396230delCA995889216PRXc.2136_2243del (p.Lys713_Pro748del)
c.1719_1826del (p.Lys574_Pro609del)
c.2421_2528del (p.Lys808_Pro843del)
c.2011_2118del
c.1997_2104del
c.2098_2205del
c.2023_2130del
c.*2341_*2448del (n.*2341_*2448del)
c.2034_2141del (p.Lys679_Pro714del)
gnomAD v3 gnomAD v4
19g.40396123_40396231delinsGGGGAGGTGCACATCGGGCACAGCCATCTCAGGCACCTTGGGGAGTTTTATCTCTGGGAGCTTCATGTCAGGGACTTTCATTTCACAGACTTTGGGCAGCTGCACCTCTCA2335961475PRXc.2121_2229delinsAGAGGTGCAGCTGCCCAAAGTCTGTGAAATGAAAGTCCCTGACATGAAGCTCCCAGAGATAAAACTCCCCAAGGTGCCTGAGATGGCTGTGCCCGATGTGCACCTCCCC (p.Pro707=)
c.1704_1812delinsAGAGGTGCAGCTGCCCAAAGTCTGTGAAATGAAAGTCCCTGACATGAAGCTCCCAGAGATAAAACTCCCCAAGGTGCCTGAGATGGCTGTGCCCGATGTGCACCTCCCC (p.Pro568=)
c.2406_2514delinsAGAGGTGCAGCTGCCCAAAGTCTGTGAAATGAAAGTCCCTGACATGAAGCTCCCAGAGATAAAACTCCCCAAGGTGCCTGAGATGGCTGTGCCCGATGTGCACCTCCCC (p.Pro802=)
c.1996_2104delinsAGAGGTGCAGCTGCCCAAAGTCTGTGAAATGAAAGTCCCTGACATGAAGCTCCCAGAGATAAAACTCCCCAAGGTGCCTGAGATGGCTGTGCCCGATGTGCACCTCCCC
c.1982_2090delinsAGAGGTGCAGCTGCCCAAAGTCTGTGAAATGAAAGTCCCTGACATGAAGCTCCCAGAGATAAAACTCCCCAAGGTGCCTGAGATGGCTGTGCCCGATGTGCACCTCCCC
c.2083_2191delinsAGAGGTGCAGCTGCCCAAAGTCTGTGAAATGAAAGTCCCTGACATGAAGCTCCCAGAGATAAAACTCCCCAAGGTGCCTGAGATGGCTGTGCCCGATGTGCACCTCCCC
c.2008_2116delinsAGAGGTGCAGCTGCCCAAAGTCTGTGAAATGAAAGTCCCTGACATGAAGCTCCCAGAGATAAAACTCCCCAAGGTGCCTGAGATGGCTGTGCCCGATGTGCACCTCCCC
c.*2326_*2434delinsAGAGGTGCAGCTGCCCAAAGTCTGTGAAATGAAAGTCCCTGACATGAAGCTCCCAGAGATAAAACTCCCCAAGGTGCCTGAGATGGCTGTGCCCGATGTGCACCTCCCC (n.*2326_*2434delinsAGAGGTGCAGCTGCCCAAAGTCTGTGAAATGAAAGTCCCTGACATGAAGCTCCCAGAGATAAAACTCCCCAAGGTGCCTGAGATGGCTGTGCCCGATGTGCACCTCCCC)
c.2019_2127delinsAGAGGTGCAGCTGCCCAAAGTCTGTGAAATGAAAGTCCCTGACATGAAGCTCCCAGAGATAAAACTCCCCAAGGTGCCTGAGATGGCTGTGCCCGATGTGCACCTCCCC (p.Pro673=)
19g.40396144_40396251delCA633466290PRXc.2121_2228del (p.Glu708_Pro743del)
c.1704_1811del (p.Glu569_Pro604del)
c.2406_2513del (p.Glu803_Pro838del)
c.1996_2103del
c.1982_2089del
c.2083_2190del
c.2008_2115del
c.*2326_*2433del (n.*2326_*2433del)
c.2019_2126del (p.Glu674_Pro709del)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.40396158_40396343dupCA2573156370PRXc.2028_2213dup (p.Pro738_Asp739insGluValArgLeuProGluValGlnLeuProLysValSerGluMetLysLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValCysGluMetLysValProAspMetLysLeuProGluIleLysLeuProLysValProGluMetAlaValPro)
c.1611_1796dup (p.Pro599_Asp600insGluValArgLeuProGluValGlnLeuProLysValSerGluMetLysLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValCysGluMetLysValProAspMetLysLeuProGluIleLysLeuProLysValProGluMetAlaValPro)
c.2313_2498dup (p.Pro833_Asp834insGluValArgLeuProGluValGlnLeuProLysValSerGluMetLysLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValCysGluMetLysValProAspMetLysLeuProGluIleLysLeuProLysValProGluMetAlaValPro)
c.1903_2088dup
c.1889_2074dup
c.1990_2175dup
c.1915_2100dup
c.*2233_*2418dup (n.*2233_*2418dup)
c.1926_2111dup (p.Pro704_Asp705insGluValArgLeuProGluValGlnLeuProLysValSerGluMetLysLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValCysGluMetLysValProAspMetLysLeuProGluIleLysLeuProLysValProGluMetAlaValPro)
ClinVar dbSNP
19g.40396171_40396278delCA995889314PRXc.2094_2201del (p.Met699_Glu734del)
c.1677_1784del (p.Met560_Glu595del)
c.2379_2486del (p.Met794_Glu829del)
c.1969_2076del
c.1955_2062del
c.2056_2163del
c.1981_2088del
c.*2299_*2406del (n.*2299_*2406del)
c.1992_2099del (p.Met665_Glu700del)
gnomAD v3 gnomAD v4
19g.40396208_40396209delCA2585127083PRXc.2145_2146del (p.Cys715Ter)
c.1728_1729del (p.Cys576Ter)
c.2430_2431del (p.Cys810Ter)
c.2020_2021del
c.2006_2007del
c.2107_2108del
c.2032_2033del
c.*2350_*2351del (n.*2350_*2351del)
c.2043_2044del (p.Cys681Ter)
gnomAD v4
19g.40396207A=CA2335961519PRXc.2145T= (p.Cys715=)
c.1728T= (p.Cys576=)
c.2430T= (p.Cys810=)
c.2020T=
c.2006T=
c.2107T=
c.2032T=
c.*2350T= (n.*2350T=)
c.2043T= (p.Cys681=)
19g.40396207A>CCA405896911PRXc.2145T>G (p.Cys715Trp)
c.1728T>G (p.Cys576Trp)
c.2430T>G (p.Cys810Trp)
c.2020T>G
c.2006T>G
c.2107T>G
c.2032T>G
c.*2350T>G (n.*2350T>G)
c.2043T>G (p.Cys681Trp)
19g.40396207A>GCA507679430PRXc.2145T>C (p.Cys715=)
c.1728T>C (p.Cys576=)
c.2430T>C (p.Cys810=)
c.2020T>C
c.2006T>C
c.2107T>C
c.2032T>C
c.*2350T>C (n.*2350T>C)
c.2043T>C (p.Cys681=)
19g.40396207A>TCA343107PRXc.2145T>A (p.Cys715Ter)
c.1728T>A (p.Cys576Ter)
c.2430T>A (p.Cys810Ter)
c.2020T>A
c.2006T>A
c.2107T>A
c.2032T>A
c.*2350T>A (n.*2350T>A)
c.2043T>A (p.Cys681Ter)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.40396208C>ACA405896914PRXc.2144G>T (p.Cys715Phe)
c.1727G>T (p.Cys576Phe)
c.2429G>T (p.Cys810Phe)
c.2019G>T
c.2005G>T
c.2106G>T
c.2031G>T
c.*2349G>T (n.*2349G>T)
c.2042G>T (p.Cys681Phe)
19g.40396208C=CA2335961520PRXc.2144G= (p.Cys715=)
c.1727G= (p.Cys576=)
c.2429G= (p.Cys810=)
c.2019G=
c.2005G=
c.2106G=
c.2031G=
c.*2349G= (n.*2349G=)
c.2042G= (p.Cys681=)
19g.40396208C>GCA405896913PRXc.2144G>C (p.Cys715Ser)
c.1727G>C (p.Cys576Ser)
c.2429G>C (p.Cys810Ser)
c.2019G>C
c.2005G>C
c.2106G>C
c.2031G>C
c.*2349G>C (n.*2349G>C)
c.2042G>C (p.Cys681Ser)
dbSNP gnomAD v3 gnomAD v4
19g.40396208C>TCA405896912PRXc.2144G>A (p.Cys715Tyr)
c.1727G>A (p.Cys576Tyr)
c.2429G>A (p.Cys810Tyr)
c.2019G>A
c.2005G>A
c.2106G>A
c.2031G>A
c.*2349G>A (n.*2349G>A)
c.2042G>A (p.Cys681Tyr)
dbSNP gnomAD v4
19g.40396209A>CCA405896915PRXc.2143T>G (p.Cys715Gly)
c.1726T>G (p.Cys576Gly)
c.2428T>G (p.Cys810Gly)
c.2018T>G
c.2004T>G
c.2105T>G
c.2030T>G
c.*2348T>G (n.*2348T>G)
c.2041T>G (p.Cys681Gly)
19g.40396209A>GCA405896916PRXc.2143T>C (p.Cys715Arg)
c.1726T>C (p.Cys576Arg)
c.2428T>C (p.Cys810Arg)
c.2018T>C
c.2004T>C
c.2105T>C
c.2030T>C
c.*2348T>C (n.*2348T>C)
c.2041T>C (p.Cys681Arg)
gnomAD v3 gnomAD v4
19g.40396209A>TCA405896917PRXc.2143T>A (p.Cys715Ser)
c.1726T>A (p.Cys576Ser)
c.2428T>A (p.Cys810Ser)
c.2018T>A
c.2004T>A
c.2105T>A
c.2030T>A
c.*2348T>A (n.*2348T>A)
c.2041T>A (p.Cys681Ser)
19g.40396210G>ACA507679433PRXc.2142C>T (p.Val714=)
c.1725C>T (p.Val575=)
c.2427C>T (p.Val809=)
c.2017C>T
c.2003C>T
c.2104C>T
c.2029C>T
c.*2347C>T (n.*2347C>T)
c.2040C>T (p.Val680=)
19g.40396210G>CCA507679432PRXc.2142C>G (p.Val714=)
c.1725C>G (p.Val575=)
c.2427C>G (p.Val809=)
c.2017C>G
c.2003C>G
c.2104C>G
c.2029C>G
c.*2347C>G (n.*2347C>G)
c.2040C>G (p.Val680=)
COSMIC
19g.40396210G>TCA507679431PRXc.2142C>A (p.Val714=)
c.1725C>A (p.Val575=)
c.2427C>A (p.Val809=)
c.2017C>A
c.2003C>A
c.2104C>A
c.2029C>A
c.*2347C>A (n.*2347C>A)
c.2040C>A (p.Val680=)
19g.40396211A=CA2335961521PRXc.2141T= (p.Val714=)
c.1724T= (p.Val575=)
c.2426T= (p.Val809=)
c.2016T=
c.2002T=
c.2103T=
c.2028T=
c.*2346T= (n.*2346T=)
c.2039T= (p.Val680=)
19g.40396211A>CCA405896918PRXc.2141T>G (p.Val714Gly)
c.1724T>G (p.Val575Gly)
c.2426T>G (p.Val809Gly)
c.2016T>G
c.2002T>G
c.2103T>G
c.2028T>G
c.*2346T>G (n.*2346T>G)
c.2039T>G (p.Val680Gly)
19g.40396211A>GCA405896919PRXc.2141T>C (p.Val714Ala)
c.1724T>C (p.Val575Ala)
c.2426T>C (p.Val809Ala)
c.2016T>C
c.2002T>C
c.2103T>C
c.2028T>C
c.*2346T>C (n.*2346T>C)
c.2039T>C (p.Val680Ala)
dbSNP gnomAD v4
19g.40396211A>TCA405896920PRXc.2141T>A (p.Val714Asp)
c.1724T>A (p.Val575Asp)
c.2426T>A (p.Val809Asp)
c.2016T>A
c.2002T>A
c.2103T>A
c.2028T>A
c.*2346T>A (n.*2346T>A)
c.2039T>A (p.Val680Asp)
19g.40396212delCA2585127084PRXc.2140del (p.Val714SerfsTer4)
c.1723del (p.Val575SerfsTer4)
c.2425del (p.Val809SerfsTer4)
c.2015del
c.2001del
c.2102del
c.2027del
c.*2345del (n.*2345del)
c.2038del (p.Val680SerfsTer4)
gnomAD v4
19g.40396212C>ACA405896923PRXc.2140G>T (p.Val714Phe)
c.1723G>T (p.Val575Phe)
c.2425G>T (p.Val809Phe)
c.2015G>T
c.2001G>T
c.2102G>T
c.2027G>T
c.*2345G>T (n.*2345G>T)
c.2038G>T (p.Val680Phe)
19g.40396212C>GCA405896921PRXc.2140G>C (p.Val714Leu)
c.1723G>C (p.Val575Leu)
c.2425G>C (p.Val809Leu)
c.2015G>C
c.2001G>C
c.2102G>C
c.2027G>C
c.*2345G>C (n.*2345G>C)
c.2038G>C (p.Val680Leu)
19g.40396212C>TCA405896922PRXc.2140G>A (p.Val714Ile)
c.1723G>A (p.Val575Ile)
c.2425G>A (p.Val809Ile)
c.2015G>A
c.2001G>A
c.2102G>A
c.2027G>A
c.*2345G>A (n.*2345G>A)
c.2038G>A (p.Val680Ile)
19g.40396213T>ACA405896924PRXc.2139A>T (p.Lys713Asn)
c.1722A>T (p.Lys574Asn)
c.2424A>T (p.Lys808Asn)
c.2014A>T
c.2000A>T
c.2101A>T
c.2026A>T
c.*2344A>T (n.*2344A>T)
c.2037A>T (p.Lys679Asn)
19g.40396213T>CCA507679438PRXc.2139A>G (p.Lys713=)
c.1722A>G (p.Lys574=)
c.2424A>G (p.Lys808=)
c.2014A>G
c.2000A>G
c.2101A>G
c.2026A>G
c.*2344A>G (n.*2344A>G)
c.2037A>G (p.Lys679=)
19g.40396213T>GCA405896925PRXc.2139A>C (p.Lys713Asn)
c.1722A>C (p.Lys574Asn)
c.2424A>C (p.Lys808Asn)
c.2014A>C
c.2000A>C
c.2101A>C
c.2026A>C
c.*2344A>C (n.*2344A>C)
c.2037A>C (p.Lys679Asn)
19g.40396214_40396215delCA2576785599PRXc.2138_2139del (p.Lys713SerfsTer3)
c.1721_1722del (p.Lys574SerfsTer3)
c.2423_2424del (p.Lys808SerfsTer3)
c.2013_2014del
c.1999_2000del
c.2100_2101del
c.2025_2026del
c.*2343_*2344del (n.*2343_*2344del)
c.2036_2037del (p.Lys679SerfsTer3)
19g.40396214T>ACA405896926PRXc.2138A>T (p.Lys713Ile)
c.1721A>T (p.Lys574Ile)
c.2423A>T (p.Lys808Ile)
c.2013A>T
c.1999A>T
c.2100A>T
c.2025A>T
c.*2343A>T (n.*2343A>T)
c.2036A>T (p.Lys679Ile)
19g.40396214T>CCA405896927PRXc.2138A>G (p.Lys713Arg)
c.1721A>G (p.Lys574Arg)
c.2423A>G (p.Lys808Arg)
c.2013A>G
c.1999A>G
c.2100A>G
c.2025A>G
c.*2343A>G (n.*2343A>G)
c.2036A>G (p.Lys679Arg)
dbSNP gnomAD v2 gnomAD v4
19g.40396214T>GCA405896928PRXc.2138A>C (p.Lys713Thr)
c.1721A>C (p.Lys574Thr)
c.2423A>C (p.Lys808Thr)
c.2013A>C
c.1999A>C
c.2100A>C
c.2025A>C
c.*2343A>C (n.*2343A>C)
c.2036A>C (p.Lys679Thr)
19g.40396214T=CA2335961522PRXc.2138A= (p.Lys713=)
c.1721A= (p.Lys574=)
c.2423A= (p.Lys808=)
c.2013A=
c.1999A=
c.2100A=
c.2025A=
c.*2343A= (n.*2343A=)
c.2036A= (p.Lys679=)
19g.40396215T>ACA405896929PRXc.2137A>T (p.Lys713Ter)
c.1720A>T (p.Lys574Ter)
c.2422A>T (p.Lys808Ter)
c.2012A>T
c.1998A>T
c.2099A>T
c.2024A>T
c.*2342A>T (n.*2342A>T)
c.2035A>T (p.Lys679Ter)
19g.40396215T>CCA405896930PRXc.2137A>G (p.Lys713Glu)
c.1720A>G (p.Lys574Glu)
c.2422A>G (p.Lys808Glu)
c.2012A>G
c.1998A>G
c.2099A>G
c.2024A>G
c.*2342A>G (n.*2342A>G)
c.2035A>G (p.Lys679Glu)
19g.40396215T>GCA405896931PRXc.2137A>C (p.Lys713Gln)
c.1720A>C (p.Lys574Gln)
c.2422A>C (p.Lys808Gln)
c.2012A>C
c.1998A>C
c.2099A>C
c.2024A>C
c.*2342A>C (n.*2342A>C)
c.2035A>C (p.Lys679Gln)
19g.40396216G>ACA507679440PRXc.2136C>T (p.Pro712=)
c.1719C>T (p.Pro573=)
c.2421C>T (p.Pro807=)
c.2011C>T
c.1997C>T
c.2098C>T
c.2023C>T
c.*2341C>T (n.*2341C>T)
c.2034C>T (p.Pro678=)
19g.40396216G>CCA9444117PRXc.2136C>G (p.Pro712=)
c.1719C>G (p.Pro573=)
c.2421C>G (p.Pro807=)
c.2011C>G
c.1997C>G
c.2098C>G
c.2023C>G
c.*2341C>G (n.*2341C>G)
c.2034C>G (p.Pro678=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.40396216G=CA2335961523PRXc.2136C= (p.Pro712=)
c.1719C= (p.Pro573=)
c.2421C= (p.Pro807=)
c.2011C=
c.1997C=
c.2098C=
c.2023C=
c.*2341C= (n.*2341C=)
c.2034C= (p.Pro678=)
19g.40396216G>TCA507679441PRXc.2136C>A (p.Pro712=)
c.1719C>A (p.Pro573=)
c.2421C>A (p.Pro807=)
c.2011C>A
c.1997C>A
c.2098C>A
c.2023C>A
c.*2341C>A (n.*2341C>A)
c.2034C>A (p.Pro678=)
gnomAD v3 gnomAD v4
19g.40396217G>ACA405896932PRXc.2135C>T (p.Pro712Leu)
c.1718C>T (p.Pro573Leu)
c.2420C>T (p.Pro807Leu)
c.2010C>T
c.1996C>T
c.2097C>T
c.2022C>T
c.*2340C>T (n.*2340C>T)
c.2033C>T (p.Pro678Leu)
dbSNP gnomAD v4
19g.40396217G>CCA405896933PRXc.2135C>G (p.Pro712Arg)
c.1718C>G (p.Pro573Arg)
c.2420C>G (p.Pro807Arg)
c.2010C>G
c.1996C>G
c.2097C>G
c.2022C>G
c.*2340C>G (n.*2340C>G)
c.2033C>G (p.Pro678Arg)
19g.40396217G=CA2335961524PRXc.2135C= (p.Pro712=)
c.1718C= (p.Pro573=)
c.2420C= (p.Pro807=)
c.2010C=
c.1996C=
c.2097C=
c.2022C=
c.*2340C= (n.*2340C=)
c.2033C= (p.Pro678=)
19g.40396217G>TCA405896934PRXc.2135C>A (p.Pro712His)
c.1718C>A (p.Pro573His)
c.2420C>A (p.Pro807His)
c.2010C>A
c.1996C>A
c.2097C>A
c.2022C>A
c.*2340C>A (n.*2340C>A)
c.2033C>A (p.Pro678His)
19g.40396218G>ACA405896935PRXc.2134C>T (p.Pro712Ser)
c.1717C>T (p.Pro573Ser)
c.2419C>T (p.Pro807Ser)
c.2009C>T
c.1995C>T
c.2096C>T
c.2021C>T
c.*2339C>T (n.*2339C>T)
c.2032C>T (p.Pro678Ser)
ClinVar dbSNP gnomAD v2 gnomAD v4
19g.40396218G>CCA405896937PRXc.2134C>G (p.Pro712Ala)
c.1717C>G (p.Pro573Ala)
c.2419C>G (p.Pro807Ala)
c.2009C>G
c.1995C>G
c.2096C>G
c.2021C>G
c.*2339C>G (n.*2339C>G)
c.2032C>G (p.Pro678Ala)
19g.40396218G=CA2335961525PRXc.2134C= (p.Pro712=)
c.1717C= (p.Pro573=)
c.2419C= (p.Pro807=)
c.2009C=
c.1995C=
c.2096C=
c.2021C=
c.*2339C= (n.*2339C=)
c.2032C= (p.Pro678=)

Number of alleles fetched