Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.53250658T>ACA413162845IQSEC2c.2077A>T (p.Arg693Trp)
c.1918A>T (p.Arg640Trp)
c.1888A>T (p.Arg630Trp)
c.1303A>T (p.Arg435Trp)
c.2014A>T (p.Arg672Trp)
c.1240A>T (p.Arg414Trp)
c.1207A>T (p.Arg403Trp)
n.2241A>T
c.1420A>T (p.Arg474Trp)
n.2235A>T
Xg.53250658T>CCA413162847IQSEC2c.2077A>G (p.Arg693Gly)
c.1918A>G (p.Arg640Gly)
c.1888A>G (p.Arg630Gly)
c.1303A>G (p.Arg435Gly)
c.2014A>G (p.Arg672Gly)
c.1240A>G (p.Arg414Gly)
c.1207A>G (p.Arg403Gly)
n.2241A>G
c.1420A>G (p.Arg474Gly)
n.2235A>G
Xg.53250658T>GCA516673968IQSEC2c.2077A>C (p.Arg693=)
c.1918A>C (p.Arg640=)
c.1888A>C (p.Arg630=)
c.1303A>C (p.Arg435=)
c.2014A>C (p.Arg672=)
c.1240A>C (p.Arg414=)
c.1207A>C (p.Arg403=)
n.2241A>C
c.1420A>C (p.Arg474=)
n.2235A>C
Xg.53250659G>ACA516673971IQSEC2c.2076C>T (p.Gly692=)
c.1917C>T (p.Gly639=)
c.1887C>T (p.Gly629=)
c.1302C>T (p.Gly434=)
c.2013C>T (p.Gly671=)
c.1239C>T (p.Gly413=)
c.1206C>T (p.Gly402=)
n.2240C>T
c.1419C>T (p.Gly473=)
n.2234C>T
Xg.53250659G>CCA516673970IQSEC2c.2076C>G (p.Gly692=)
c.1917C>G (p.Gly639=)
c.1887C>G (p.Gly629=)
c.1302C>G (p.Gly434=)
c.2013C>G (p.Gly671=)
c.1239C>G (p.Gly413=)
c.1206C>G (p.Gly402=)
n.2240C>G
c.1419C>G (p.Gly473=)
n.2234C>G
Xg.53250659G>TCA516673969IQSEC2c.2076C>A (p.Gly692=)
c.1917C>A (p.Gly639=)
c.1887C>A (p.Gly629=)
c.1302C>A (p.Gly434=)
c.2013C>A (p.Gly671=)
c.1239C>A (p.Gly413=)
c.1206C>A (p.Gly402=)
n.2240C>A
c.1419C>A (p.Gly473=)
n.2234C>A
Xg.53250660C>ACA413162849IQSEC2c.2075G>T (p.Gly692Val)
c.1916G>T (p.Gly639Val)
c.1886G>T (p.Gly629Val)
c.1301G>T (p.Gly434Val)
c.2012G>T (p.Gly671Val)
c.1238G>T (p.Gly413Val)
c.1205G>T (p.Gly402Val)
n.2239G>T
c.1418G>T (p.Gly473Val)
n.2233G>T
Xg.53250660C>GCA413162851IQSEC2c.2075G>C (p.Gly692Ala)
c.1916G>C (p.Gly639Ala)
c.1886G>C (p.Gly629Ala)
c.1301G>C (p.Gly434Ala)
c.2012G>C (p.Gly671Ala)
c.1238G>C (p.Gly413Ala)
c.1205G>C (p.Gly402Ala)
n.2239G>C
c.1418G>C (p.Gly473Ala)
n.2233G>C
Xg.53250660C>TCA413162852IQSEC2c.2075G>A (p.Gly692Asp)
c.1916G>A (p.Gly639Asp)
c.1886G>A (p.Gly629Asp)
c.1301G>A (p.Gly434Asp)
c.2012G>A (p.Gly671Asp)
c.1238G>A (p.Gly413Asp)
c.1205G>A (p.Gly402Asp)
n.2239G>A
c.1418G>A (p.Gly473Asp)
n.2233G>A
Xg.53250661C>ACA413162854IQSEC2c.2074G>T (p.Gly692Cys)
c.1915G>T (p.Gly639Cys)
c.1885G>T (p.Gly629Cys)
c.1300G>T (p.Gly434Cys)
c.2011G>T (p.Gly671Cys)
c.1237G>T (p.Gly413Cys)
c.1204G>T (p.Gly402Cys)
n.2238G>T
c.1417G>T (p.Gly473Cys)
n.2232G>T
Xg.53250661C>GCA413162855IQSEC2c.2074G>C (p.Gly692Arg)
c.1915G>C (p.Gly639Arg)
c.1885G>C (p.Gly629Arg)
c.1300G>C (p.Gly434Arg)
c.2011G>C (p.Gly671Arg)
c.1237G>C (p.Gly413Arg)
c.1204G>C (p.Gly402Arg)
n.2238G>C
c.1417G>C (p.Gly473Arg)
n.2232G>C
Xg.53250661C>TCA413162856IQSEC2c.2074G>A (p.Gly692Ser)
c.1915G>A (p.Gly639Ser)
c.1885G>A (p.Gly629Ser)
c.1300G>A (p.Gly434Ser)
c.2011G>A (p.Gly671Ser)
c.1237G>A (p.Gly413Ser)
c.1204G>A (p.Gly402Ser)
n.2238G>A
c.1417G>A (p.Gly473Ser)
n.2232G>A
Xg.53250662T>ACA516673972IQSEC2c.2073A>T (p.Pro691=)
c.1914A>T (p.Pro638=)
c.1884A>T (p.Pro628=)
c.1299A>T (p.Pro433=)
c.2010A>T (p.Pro670=)
c.1236A>T (p.Pro412=)
c.1203A>T (p.Pro401=)
n.2237A>T
c.1416A>T (p.Pro472=)
n.2231A>T
Xg.53250662T>CCA516673975IQSEC2c.2073A>G (p.Pro691=)
c.1914A>G (p.Pro638=)
c.1884A>G (p.Pro628=)
c.1299A>G (p.Pro433=)
c.2010A>G (p.Pro670=)
c.1236A>G (p.Pro412=)
c.1203A>G (p.Pro401=)
n.2237A>G
c.1416A>G (p.Pro472=)
n.2231A>G
Xg.53250662T>GCA516673973IQSEC2c.2073A>C (p.Pro691=)
c.1914A>C (p.Pro638=)
c.1884A>C (p.Pro628=)
c.1299A>C (p.Pro433=)
c.2010A>C (p.Pro670=)
c.1236A>C (p.Pro412=)
c.1203A>C (p.Pro401=)
n.2237A>C
c.1416A>C (p.Pro472=)
n.2231A>C
Xg.53250663G>ACA413162858IQSEC2c.2072C>T (p.Pro691Leu)
c.1913C>T (p.Pro638Leu)
c.1883C>T (p.Pro628Leu)
c.1298C>T (p.Pro433Leu)
c.2009C>T (p.Pro670Leu)
c.1235C>T (p.Pro412Leu)
c.1202C>T (p.Pro401Leu)
n.2236C>T
c.1415C>T (p.Pro472Leu)
n.2230C>T
Xg.53250663G>CCA413162862IQSEC2c.2072C>G (p.Pro691Arg)
c.1913C>G (p.Pro638Arg)
c.1883C>G (p.Pro628Arg)
c.1298C>G (p.Pro433Arg)
c.2009C>G (p.Pro670Arg)
c.1235C>G (p.Pro412Arg)
c.1202C>G (p.Pro401Arg)
n.2236C>G
c.1415C>G (p.Pro472Arg)
n.2230C>G
 gnomAD v4
Xg.53250663G>TCA413162860IQSEC2c.2072C>A (p.Pro691Gln)
c.1913C>A (p.Pro638Gln)
c.1883C>A (p.Pro628Gln)
c.1298C>A (p.Pro433Gln)
c.2009C>A (p.Pro670Gln)
c.1235C>A (p.Pro412Gln)
c.1202C>A (p.Pro401Gln)
n.2236C>A
c.1415C>A (p.Pro472Gln)
n.2230C>A
Xg.53250664G>ACA413162863IQSEC2c.2071C>T (p.Pro691Ser)
c.1912C>T (p.Pro638Ser)
c.1882C>T (p.Pro628Ser)
c.1297C>T (p.Pro433Ser)
c.2008C>T (p.Pro670Ser)
c.1234C>T (p.Pro412Ser)
c.1201C>T (p.Pro401Ser)
n.2235C>T
c.1414C>T (p.Pro472Ser)
n.2229C>T
Xg.53250664G>CCA413162865IQSEC2c.2071C>G (p.Pro691Ala)
c.1912C>G (p.Pro638Ala)
c.1882C>G (p.Pro628Ala)
c.1297C>G (p.Pro433Ala)
c.2008C>G (p.Pro670Ala)
c.1234C>G (p.Pro412Ala)
c.1201C>G (p.Pro401Ala)
n.2235C>G
c.1414C>G (p.Pro472Ala)
n.2229C>G
Xg.53250664G>TCA413162867IQSEC2c.2071C>A (p.Pro691Thr)
c.1912C>A (p.Pro638Thr)
c.1882C>A (p.Pro628Thr)
c.1297C>A (p.Pro433Thr)
c.2008C>A (p.Pro670Thr)
c.1234C>A (p.Pro412Thr)
c.1201C>A (p.Pro401Thr)
n.2235C>A
c.1414C>A (p.Pro472Thr)
n.2229C>A
Xg.53250665T>ACA516673980IQSEC2c.2070A>T (p.Pro690=)
c.1911A>T (p.Pro637=)
c.1881A>T (p.Pro627=)
c.1296A>T (p.Pro432=)
c.2007A>T (p.Pro669=)
c.1233A>T (p.Pro411=)
c.1200A>T (p.Pro400=)
n.2234A>T
c.1413A>T (p.Pro471=)
n.2228A>T
Xg.53250665T>CCA516673981IQSEC2c.2070A>G (p.Pro690=)
c.1911A>G (p.Pro637=)
c.1881A>G (p.Pro627=)
c.1296A>G (p.Pro432=)
c.2007A>G (p.Pro669=)
c.1233A>G (p.Pro411=)
c.1200A>G (p.Pro400=)
n.2234A>G
c.1413A>G (p.Pro471=)
n.2228A>G
Xg.53250665T>GCA516673982IQSEC2c.2070A>C (p.Pro690=)
c.1911A>C (p.Pro637=)
c.1881A>C (p.Pro627=)
c.1296A>C (p.Pro432=)
c.2007A>C (p.Pro669=)
c.1233A>C (p.Pro411=)
c.1200A>C (p.Pro400=)
n.2234A>C
c.1413A>C (p.Pro471=)
n.2228A>C
 ClinVar
Xg.53250666G>ACA413162869IQSEC2c.2069C>T (p.Pro690Leu)
c.1910C>T (p.Pro637Leu)
c.1880C>T (p.Pro627Leu)
c.1295C>T (p.Pro432Leu)
c.2006C>T (p.Pro669Leu)
c.1232C>T (p.Pro411Leu)
c.1199C>T (p.Pro400Leu)
n.2233C>T
c.1412C>T (p.Pro471Leu)
n.2227C>T
 dbSNP gnomAD v4
Xg.53250666G>CCA413162870IQSEC2c.2069C>G (p.Pro690Arg)
c.1910C>G (p.Pro637Arg)
c.1880C>G (p.Pro627Arg)
c.1295C>G (p.Pro432Arg)
c.2006C>G (p.Pro669Arg)
c.1232C>G (p.Pro411Arg)
c.1199C>G (p.Pro400Arg)
n.2233C>G
c.1412C>G (p.Pro471Arg)
n.2227C>G
Xg.53250666G=CA2429775603IQSEC2c.2069C= (p.Pro690=)
c.1910C= (p.Pro637=)
c.1880C= (p.Pro627=)
c.1295C= (p.Pro432=)
c.2006C= (p.Pro669=)
c.1232C= (p.Pro411=)
c.1199C= (p.Pro400=)
n.2233C=
c.1412C= (p.Pro471=)
n.2227C=
Xg.53250666G>TCA413162871IQSEC2c.2069C>A (p.Pro690Gln)
c.1910C>A (p.Pro637Gln)
c.1880C>A (p.Pro627Gln)
c.1295C>A (p.Pro432Gln)
c.2006C>A (p.Pro669Gln)
c.1232C>A (p.Pro411Gln)
c.1199C>A (p.Pro400Gln)
n.2233C>A
c.1412C>A (p.Pro471Gln)
n.2227C>A
Xg.53250667G>ACA413162873IQSEC2c.2068C>T (p.Pro690Ser)
c.1909C>T (p.Pro637Ser)
c.1879C>T (p.Pro627Ser)
c.1294C>T (p.Pro432Ser)
c.2005C>T (p.Pro669Ser)
c.1231C>T (p.Pro411Ser)
c.1198C>T (p.Pro400Ser)
n.2232C>T
c.1411C>T (p.Pro471Ser)
n.2226C>T
 dbSNP gnomAD v4
Xg.53250667G>CCA413162875IQSEC2c.2068C>G (p.Pro690Ala)
c.1909C>G (p.Pro637Ala)
c.1879C>G (p.Pro627Ala)
c.1294C>G (p.Pro432Ala)
c.2005C>G (p.Pro669Ala)
c.1231C>G (p.Pro411Ala)
c.1198C>G (p.Pro400Ala)
n.2232C>G
c.1411C>G (p.Pro471Ala)
n.2226C>G
Xg.53250667G=CA2429775604IQSEC2c.2068C= (p.Pro690=)
c.1909C= (p.Pro637=)
c.1879C= (p.Pro627=)
c.1294C= (p.Pro432=)
c.2005C= (p.Pro669=)
c.1231C= (p.Pro411=)
c.1198C= (p.Pro400=)
n.2232C=
c.1411C= (p.Pro471=)
n.2226C=
Xg.53250667G>TCA413162877IQSEC2c.2068C>A (p.Pro690Thr)
c.1909C>A (p.Pro637Thr)
c.1879C>A (p.Pro627Thr)
c.1294C>A (p.Pro432Thr)
c.2005C>A (p.Pro669Thr)
c.1231C>A (p.Pro411Thr)
c.1198C>A (p.Pro400Thr)
n.2232C>A
c.1411C>A (p.Pro471Thr)
n.2226C>A
Xg.53250668C>ACA516673984IQSEC2c.2067G>T (p.Gly689=)
c.1908G>T (p.Gly636=)
c.1878G>T (p.Gly626=)
c.1293G>T (p.Gly431=)
c.2004G>T (p.Gly668=)
c.1230G>T (p.Gly410=)
c.1197G>T (p.Gly399=)
n.2231G>T
c.1410G>T (p.Gly470=)
n.2225G>T
 COSMIC COSMIC COSMIC
Xg.53250668C=CA2429775605IQSEC2c.2067G= (p.Gly689=)
c.1908G= (p.Gly636=)
c.1878G= (p.Gly626=)
c.1293G= (p.Gly431=)
c.2004G= (p.Gly668=)
c.1230G= (p.Gly410=)
c.1197G= (p.Gly399=)
n.2231G=
c.1410G= (p.Gly470=)
n.2225G=
Xg.53250668C>GCA516673985IQSEC2c.2067G>C (p.Gly689=)
c.1908G>C (p.Gly636=)
c.1878G>C (p.Gly626=)
c.1293G>C (p.Gly431=)
c.2004G>C (p.Gly668=)
c.1230G>C (p.Gly410=)
c.1197G>C (p.Gly399=)
n.2231G>C
c.1410G>C (p.Gly470=)
n.2225G>C
Xg.53250668C>TCA516673987IQSEC2c.2067G>A (p.Gly689=)
c.1908G>A (p.Gly636=)
c.1878G>A (p.Gly626=)
c.1293G>A (p.Gly431=)
c.2004G>A (p.Gly668=)
c.1230G>A (p.Gly410=)
c.1197G>A (p.Gly399=)
n.2231G>A
c.1410G>A (p.Gly470=)
n.2225G>A
 dbSNP gnomAD v2 gnomAD v4
Xg.53250669C>ACA413162879IQSEC2c.2066G>T (p.Gly689Val)
c.1907G>T (p.Gly636Val)
c.1877G>T (p.Gly626Val)
c.1292G>T (p.Gly431Val)
c.2003G>T (p.Gly668Val)
c.1229G>T (p.Gly410Val)
c.1196G>T (p.Gly399Val)
n.2230G>T
c.1409G>T (p.Gly470Val)
n.2224G>T
 ClinVar dbSNP gnomAD v4
Xg.53250669C=CA2429775606IQSEC2c.2066G= (p.Gly689=)
c.1907G= (p.Gly636=)
c.1877G= (p.Gly626=)
c.1292G= (p.Gly431=)
c.2003G= (p.Gly668=)
c.1229G= (p.Gly410=)
c.1196G= (p.Gly399=)
n.2230G=
c.1409G= (p.Gly470=)
n.2224G=
Xg.53250669C>GCA413162881IQSEC2c.2066G>C (p.Gly689Ala)
c.1907G>C (p.Gly636Ala)
c.1877G>C (p.Gly626Ala)
c.1292G>C (p.Gly431Ala)
c.2003G>C (p.Gly668Ala)
c.1229G>C (p.Gly410Ala)
c.1196G>C (p.Gly399Ala)
n.2230G>C
c.1409G>C (p.Gly470Ala)
n.2224G>C
Xg.53250669C>TCA413162882IQSEC2c.2066G>A (p.Gly689Glu)
c.1907G>A (p.Gly636Glu)
c.1877G>A (p.Gly626Glu)
c.1292G>A (p.Gly431Glu)
c.2003G>A (p.Gly668Glu)
c.1229G>A (p.Gly410Glu)
c.1196G>A (p.Gly399Glu)
n.2230G>A
c.1409G>A (p.Gly470Glu)
n.2224G>A
 dbSNP
Xg.53250670C>ACA10419996IQSEC2c.2065G>T (p.Gly689Trp)
c.1906G>T (p.Gly636Trp)
c.1876G>T (p.Gly626Trp)
c.1291G>T (p.Gly431Trp)
c.2002G>T (p.Gly668Trp)
c.1228G>T (p.Gly410Trp)
c.1195G>T (p.Gly399Trp)
n.2229G>T
c.1408G>T (p.Gly470Trp)
n.2223G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.53250670C=CA2429775607IQSEC2c.2065G= (p.Gly689=)
c.1906G= (p.Gly636=)
c.1876G= (p.Gly626=)
c.1291G= (p.Gly431=)
c.2002G= (p.Gly668=)
c.1228G= (p.Gly410=)
c.1195G= (p.Gly399=)
n.2229G=
c.1408G= (p.Gly470=)
n.2223G=
Xg.53250670C>GCA413162886IQSEC2c.2065G>C (p.Gly689Arg)
c.1906G>C (p.Gly636Arg)
c.1876G>C (p.Gly626Arg)
c.1291G>C (p.Gly431Arg)
c.2002G>C (p.Gly668Arg)
c.1228G>C (p.Gly410Arg)
c.1195G>C (p.Gly399Arg)
n.2229G>C
c.1408G>C (p.Gly470Arg)
n.2223G>C
Xg.53250670C>TCA413162884IQSEC2c.2065G>A (p.Gly689Arg)
c.1906G>A (p.Gly636Arg)
c.1876G>A (p.Gly626Arg)
c.1291G>A (p.Gly431Arg)
c.2002G>A (p.Gly668Arg)
c.1228G>A (p.Gly410Arg)
c.1195G>A (p.Gly399Arg)
n.2229G>A
c.1408G>A (p.Gly470Arg)
n.2223G>A
Xg.53250671C>ACA413162888IQSEC2c.2064G>T (p.Lys688Asn)
c.1905G>T (p.Lys635Asn)
c.1875G>T (p.Lys625Asn)
c.1290G>T (p.Lys430Asn)
c.2001G>T (p.Lys667Asn)
c.1227G>T (p.Lys409Asn)
c.1194G>T (p.Lys398Asn)
n.2228G>T
c.1407G>T (p.Lys469Asn)
n.2222G>T
Xg.53250671C>GCA413162889IQSEC2c.2064G>C (p.Lys688Asn)
c.1905G>C (p.Lys635Asn)
c.1875G>C (p.Lys625Asn)
c.1290G>C (p.Lys430Asn)
c.2001G>C (p.Lys667Asn)
c.1227G>C (p.Lys409Asn)
c.1194G>C (p.Lys398Asn)
n.2228G>C
c.1407G>C (p.Lys469Asn)
n.2222G>C
 gnomAD v4
Xg.53250671C>TCA516673992IQSEC2c.2064G>A (p.Lys688=)
c.1905G>A (p.Lys635=)
c.1875G>A (p.Lys625=)
c.1290G>A (p.Lys430=)
c.2001G>A (p.Lys667=)
c.1227G>A (p.Lys409=)
c.1194G>A (p.Lys398=)
n.2228G>A
c.1407G>A (p.Lys469=)
n.2222G>A
Xg.53250672T>ACA413162891IQSEC2c.2063A>T (p.Lys688Met)
c.1904A>T (p.Lys635Met)
c.1874A>T (p.Lys625Met)
c.1289A>T (p.Lys430Met)
c.2000A>T (p.Lys667Met)
c.1226A>T (p.Lys409Met)
c.1193A>T (p.Lys398Met)
n.2227A>T
c.1406A>T (p.Lys469Met)
n.2221A>T
Xg.53250672T>CCA413162893IQSEC2c.2063A>G (p.Lys688Arg)
c.1904A>G (p.Lys635Arg)
c.1874A>G (p.Lys625Arg)
c.1289A>G (p.Lys430Arg)
c.2000A>G (p.Lys667Arg)
c.1226A>G (p.Lys409Arg)
c.1193A>G (p.Lys398Arg)
n.2227A>G
c.1406A>G (p.Lys469Arg)
n.2221A>G
 gnomAD v4
Xg.53250672T>GCA413162895IQSEC2c.2063A>C (p.Lys688Thr)
c.1904A>C (p.Lys635Thr)
c.1874A>C (p.Lys625Thr)
c.1289A>C (p.Lys430Thr)
c.2000A>C (p.Lys667Thr)
c.1226A>C (p.Lys409Thr)
c.1193A>C (p.Lys398Thr)
n.2227A>C
c.1406A>C (p.Lys469Thr)
n.2221A>C
Xg.53250673T>ACA413162901IQSEC2c.2062A>T (p.Lys688Ter)
c.1903A>T (p.Lys635Ter)
c.1873A>T (p.Lys625Ter)
c.1288A>T (p.Lys430Ter)
c.1999A>T (p.Lys667Ter)
c.1225A>T (p.Lys409Ter)
c.1192A>T (p.Lys398Ter)
n.2226A>T
c.1405A>T (p.Lys469Ter)
n.2220A>T
Xg.53250673T>CCA413162897IQSEC2c.2062A>G (p.Lys688Glu)
c.1903A>G (p.Lys635Glu)
c.1873A>G (p.Lys625Glu)
c.1288A>G (p.Lys430Glu)
c.1999A>G (p.Lys667Glu)
c.1225A>G (p.Lys409Glu)
c.1192A>G (p.Lys398Glu)
n.2226A>G
c.1405A>G (p.Lys469Glu)
n.2220A>G
 gnomAD v4
Xg.53250673T>GCA413162899IQSEC2c.2062A>C (p.Lys688Gln)
c.1903A>C (p.Lys635Gln)
c.1873A>C (p.Lys625Gln)
c.1288A>C (p.Lys430Gln)
c.1999A>C (p.Lys667Gln)
c.1225A>C (p.Lys409Gln)
c.1192A>C (p.Lys398Gln)
n.2226A>C
c.1405A>C (p.Lys469Gln)
n.2220A>C
 gnomAD v4
Xg.53250674G>ACA516673997IQSEC2c.2061C>T (p.His687=)
c.1902C>T (p.His634=)
c.1872C>T (p.His624=)
c.1287C>T (p.His429=)
c.1998C>T (p.His666=)
c.1224C>T (p.His408=)
c.1191C>T (p.His397=)
n.2225C>T
c.1404C>T (p.His468=)
n.2219C>T
 COSMIC COSMIC
Xg.53250674G>CCA413162903IQSEC2c.2061C>G (p.His687Gln)
c.1902C>G (p.His634Gln)
c.1872C>G (p.His624Gln)
c.1287C>G (p.His429Gln)
c.1998C>G (p.His666Gln)
c.1224C>G (p.His408Gln)
c.1191C>G (p.His397Gln)
n.2225C>G
c.1404C>G (p.His468Gln)
n.2219C>G
Xg.53250674G>TCA413162905IQSEC2c.2061C>A (p.His687Gln)
c.1902C>A (p.His634Gln)
c.1872C>A (p.His624Gln)
c.1287C>A (p.His429Gln)
c.1998C>A (p.His666Gln)
c.1224C>A (p.His408Gln)
c.1191C>A (p.His397Gln)
n.2225C>A
c.1404C>A (p.His468Gln)
n.2219C>A
Xg.53250675T>ACA413162906IQSEC2c.2060A>T (p.His687Leu)
c.1901A>T (p.His634Leu)
c.1871A>T (p.His624Leu)
c.1286A>T (p.His429Leu)
c.1997A>T (p.His666Leu)
c.1223A>T (p.His408Leu)
c.1190A>T (p.His397Leu)
n.2224A>T
c.1403A>T (p.His468Leu)
n.2218A>T
Xg.53250675T>CCA413162908IQSEC2c.2060A>G (p.His687Arg)
c.1901A>G (p.His634Arg)
c.1871A>G (p.His624Arg)
c.1286A>G (p.His429Arg)
c.1997A>G (p.His666Arg)
c.1223A>G (p.His408Arg)
c.1190A>G (p.His397Arg)
n.2224A>G
c.1403A>G (p.His468Arg)
n.2218A>G
Xg.53250675T>GCA413162909IQSEC2c.2060A>C (p.His687Pro)
c.1901A>C (p.His634Pro)
c.1871A>C (p.His624Pro)
c.1286A>C (p.His429Pro)
c.1997A>C (p.His666Pro)
c.1223A>C (p.His408Pro)
c.1190A>C (p.His397Pro)
n.2224A>C
c.1403A>C (p.His468Pro)
n.2218A>C
Xg.53250676G>ACA413162912IQSEC2c.2059C>T (p.His687Tyr)
c.1900C>T (p.His634Tyr)
c.1870C>T (p.His624Tyr)
c.1285C>T (p.His429Tyr)
c.1996C>T (p.His666Tyr)
c.1222C>T (p.His408Tyr)
c.1189C>T (p.His397Tyr)
n.2223C>T
c.1402C>T (p.His468Tyr)
n.2217C>T
Xg.53250676G>CCA413162915IQSEC2c.2059C>G (p.His687Asp)
c.1900C>G (p.His634Asp)
c.1870C>G (p.His624Asp)
c.1285C>G (p.His429Asp)
c.1996C>G (p.His666Asp)
c.1222C>G (p.His408Asp)
c.1189C>G (p.His397Asp)
n.2223C>G
c.1402C>G (p.His468Asp)
n.2217C>G
Xg.53250676G>TCA413162913IQSEC2c.2059C>A (p.His687Asn)
c.1900C>A (p.His634Asn)
c.1870C>A (p.His624Asn)
c.1285C>A (p.His429Asn)
c.1996C>A (p.His666Asn)
c.1222C>A (p.His408Asn)
c.1189C>A (p.His397Asn)
n.2223C>A
c.1402C>A (p.His468Asn)
n.2217C>A
 gnomAD v4
Xg.53250677C>ACA413162918IQSEC2c.2058G>T (p.Lys686Asn)
c.1899G>T (p.Lys633Asn)
c.1869G>T (p.Lys623Asn)
c.1284G>T (p.Lys428Asn)
c.1995G>T (p.Lys665Asn)
c.1221G>T (p.Lys407Asn)
c.1188G>T (p.Lys396Asn)
n.2222G>T
c.1401G>T (p.Lys467Asn)
n.2216G>T
Xg.53250677C=CA2429775608IQSEC2c.2058G= (p.Lys686=)
c.1899G= (p.Lys633=)
c.1869G= (p.Lys623=)
c.1284G= (p.Lys428=)
c.1995G= (p.Lys665=)
c.1221G= (p.Lys407=)
c.1188G= (p.Lys396=)
n.2222G=
c.1401G= (p.Lys467=)
n.2216G=
Xg.53250677C>GCA413162919IQSEC2c.2058G>C (p.Lys686Asn)
c.1899G>C (p.Lys633Asn)
c.1869G>C (p.Lys623Asn)
c.1284G>C (p.Lys428Asn)
c.1995G>C (p.Lys665Asn)
c.1221G>C (p.Lys407Asn)
c.1188G>C (p.Lys396Asn)
n.2222G>C
c.1401G>C (p.Lys467Asn)
n.2216G>C
Xg.53250677C>TCA516674002IQSEC2c.2058G>A (p.Lys686=)
c.1899G>A (p.Lys633=)
c.1869G>A (p.Lys623=)
c.1284G>A (p.Lys428=)
c.1995G>A (p.Lys665=)
c.1221G>A (p.Lys407=)
c.1188G>A (p.Lys396=)
n.2222G>A
c.1401G>A (p.Lys467=)
n.2216G>A
 dbSNP
Xg.53250678T>ACA413162920IQSEC2c.2057A>T (p.Lys686Met)
c.1898A>T (p.Lys633Met)
c.1868A>T (p.Lys623Met)
c.1283A>T (p.Lys428Met)
c.1994A>T (p.Lys665Met)
c.1220A>T (p.Lys407Met)
c.1187A>T (p.Lys396Met)
n.2221A>T
c.1400A>T (p.Lys467Met)
n.2215A>T
Xg.53250678T>CCA413162921IQSEC2c.2057A>G (p.Lys686Arg)
c.1898A>G (p.Lys633Arg)
c.1868A>G (p.Lys623Arg)
c.1283A>G (p.Lys428Arg)
c.1994A>G (p.Lys665Arg)
c.1220A>G (p.Lys407Arg)
c.1187A>G (p.Lys396Arg)
n.2221A>G
c.1400A>G (p.Lys467Arg)
n.2215A>G
Xg.53250678T>GCA413162923IQSEC2c.2057A>C (p.Lys686Thr)
c.1898A>C (p.Lys633Thr)
c.1868A>C (p.Lys623Thr)
c.1283A>C (p.Lys428Thr)
c.1994A>C (p.Lys665Thr)
c.1220A>C (p.Lys407Thr)
c.1187A>C (p.Lys396Thr)
n.2221A>C
c.1400A>C (p.Lys467Thr)
n.2215A>C
 gnomAD v4
Xg.53250679T>ACA413162925IQSEC2c.2056A>T (p.Lys686Ter)
c.1897A>T (p.Lys633Ter)
c.1867A>T (p.Lys623Ter)
c.1282A>T (p.Lys428Ter)
c.1993A>T (p.Lys665Ter)
c.1219A>T (p.Lys407Ter)
c.1186A>T (p.Lys396Ter)
n.2220A>T
c.1399A>T (p.Lys467Ter)
n.2214A>T
Xg.53250679T>CCA413162926IQSEC2c.2056A>G (p.Lys686Glu)
c.1897A>G (p.Lys633Glu)
c.1867A>G (p.Lys623Glu)
c.1282A>G (p.Lys428Glu)
c.1993A>G (p.Lys665Glu)
c.1219A>G (p.Lys407Glu)
c.1186A>G (p.Lys396Glu)
n.2220A>G
c.1399A>G (p.Lys467Glu)
n.2214A>G
Xg.53250679T>GCA413162928IQSEC2c.2056A>C (p.Lys686Gln)
c.1897A>C (p.Lys633Gln)
c.1867A>C (p.Lys623Gln)
c.1282A>C (p.Lys428Gln)
c.1993A>C (p.Lys665Gln)
c.1219A>C (p.Lys407Gln)
c.1186A>C (p.Lys396Gln)
n.2220A>C
c.1399A>C (p.Lys467Gln)
n.2214A>C
Xg.53250680C>ACA329166141IQSEC2c.2055G>T (p.Leu685=)
c.1896G>T (p.Leu632=)
c.1866G>T (p.Leu622=)
c.1281G>T (p.Leu427=)
c.1992G>T (p.Leu664=)
c.1218G>T (p.Leu406=)
c.1185G>T (p.Leu395=)
n.2219G>T
c.1398G>T (p.Leu466=)
n.2213G>T
 dbSNP
Xg.53250680C=CA2429775609IQSEC2c.2055G= (p.Leu685=)
c.1896G= (p.Leu632=)
c.1866G= (p.Leu622=)
c.1281G= (p.Leu427=)
c.1992G= (p.Leu664=)
c.1218G= (p.Leu406=)
c.1185G= (p.Leu395=)
n.2219G=
c.1398G= (p.Leu466=)
n.2213G=
Xg.53250680C>GCA516674010IQSEC2c.2055G>C (p.Leu685=)
c.1896G>C (p.Leu632=)
c.1866G>C (p.Leu622=)
c.1281G>C (p.Leu427=)
c.1992G>C (p.Leu664=)
c.1218G>C (p.Leu406=)
c.1185G>C (p.Leu395=)
n.2219G>C
c.1398G>C (p.Leu466=)
n.2213G>C
Xg.53250680C>TCA516674008IQSEC2c.2055G>A (p.Leu685=)
c.1896G>A (p.Leu632=)
c.1866G>A (p.Leu622=)
c.1281G>A (p.Leu427=)
c.1992G>A (p.Leu664=)
c.1218G>A (p.Leu406=)
c.1185G>A (p.Leu395=)
n.2219G>A
c.1398G>A (p.Leu466=)
n.2213G>A
Xg.53250681A>CCA413162932IQSEC2c.2054T>G (p.Leu685Arg)
c.1895T>G (p.Leu632Arg)
c.1865T>G (p.Leu622Arg)
c.1280T>G (p.Leu427Arg)
c.1991T>G (p.Leu664Arg)
c.1217T>G (p.Leu406Arg)
c.1184T>G (p.Leu395Arg)
n.2218T>G
c.1397T>G (p.Leu466Arg)
n.2212T>G
Xg.53250681A>GCA413162933IQSEC2c.2054T>C (p.Leu685Pro)
c.1895T>C (p.Leu632Pro)
c.1865T>C (p.Leu622Pro)
c.1280T>C (p.Leu427Pro)
c.1991T>C (p.Leu664Pro)
c.1217T>C (p.Leu406Pro)
c.1184T>C (p.Leu395Pro)
n.2218T>C
c.1397T>C (p.Leu466Pro)
n.2212T>C
Xg.53250681A>TCA413162934IQSEC2c.2054T>A (p.Leu685Gln)
c.1895T>A (p.Leu632Gln)
c.1865T>A (p.Leu622Gln)
c.1280T>A (p.Leu427Gln)
c.1991T>A (p.Leu664Gln)
c.1217T>A (p.Leu406Gln)
c.1184T>A (p.Leu395Gln)
n.2218T>A
c.1397T>A (p.Leu466Gln)
n.2212T>A
Xg.53250682G>ACA516674013IQSEC2c.2053C>T (p.Leu685=)
c.1894C>T (p.Leu632=)
c.1864C>T (p.Leu622=)
c.1279C>T (p.Leu427=)
c.1990C>T (p.Leu664=)
c.1216C>T (p.Leu406=)
c.1183C>T (p.Leu395=)
n.2217C>T
c.1396C>T (p.Leu466=)
n.2211C>T
Xg.53250682G>CCA413162937IQSEC2c.2053C>G (p.Leu685Val)
c.1894C>G (p.Leu632Val)
c.1864C>G (p.Leu622Val)
c.1279C>G (p.Leu427Val)
c.1990C>G (p.Leu664Val)
c.1216C>G (p.Leu406Val)
c.1183C>G (p.Leu395Val)
n.2217C>G
c.1396C>G (p.Leu466Val)
n.2211C>G
Xg.53250682G>TCA413162938IQSEC2c.2053C>A (p.Leu685Met)
c.1894C>A (p.Leu632Met)
c.1864C>A (p.Leu622Met)
c.1279C>A (p.Leu427Met)
c.1990C>A (p.Leu664Met)
c.1216C>A (p.Leu406Met)
c.1183C>A (p.Leu395Met)
n.2217C>A
c.1396C>A (p.Leu466Met)
n.2211C>A
Xg.53250683G>ACA516674018IQSEC2c.2052C>T (p.Thr684=)
c.1893C>T (p.Thr631=)
c.1863C>T (p.Thr621=)
c.1278C>T (p.Thr426=)
c.1989C>T (p.Thr663=)
c.1215C>T (p.Thr405=)
c.1182C>T (p.Thr394=)
n.2216C>T
c.1395C>T (p.Thr465=)
n.2210C>T
Xg.53250683G>CCA516674019IQSEC2c.2052C>G (p.Thr684=)
c.1893C>G (p.Thr631=)
c.1863C>G (p.Thr621=)
c.1278C>G (p.Thr426=)
c.1989C>G (p.Thr663=)
c.1215C>G (p.Thr405=)
c.1182C>G (p.Thr394=)
n.2216C>G
c.1395C>G (p.Thr465=)
n.2210C>G
Xg.53250683G=CA2429775610IQSEC2c.2052C= (p.Thr684=)
c.1893C= (p.Thr631=)
c.1863C= (p.Thr621=)
c.1278C= (p.Thr426=)
c.1989C= (p.Thr663=)
c.1215C= (p.Thr405=)
c.1182C= (p.Thr394=)
n.2216C=
c.1395C= (p.Thr465=)
n.2210C=
Xg.53250683G>TCA516674020IQSEC2c.2052C>A (p.Thr684=)
c.1893C>A (p.Thr631=)
c.1863C>A (p.Thr621=)
c.1278C>A (p.Thr426=)
c.1989C>A (p.Thr663=)
c.1215C>A (p.Thr405=)
c.1182C>A (p.Thr394=)
n.2216C>A
c.1395C>A (p.Thr465=)
n.2210C>A
 ClinVar dbSNP
Xg.53250684G>ACA413162944IQSEC2c.2051C>T (p.Thr684Ile)
c.1892C>T (p.Thr631Ile)
c.1862C>T (p.Thr621Ile)
c.1277C>T (p.Thr426Ile)
c.1988C>T (p.Thr663Ile)
c.1214C>T (p.Thr405Ile)
c.1181C>T (p.Thr394Ile)
n.2215C>T
c.1394C>T (p.Thr465Ile)
n.2209C>T
 ClinVar
Xg.53250684G>CCA413162940IQSEC2c.2051C>G (p.Thr684Ser)
c.1892C>G (p.Thr631Ser)
c.1862C>G (p.Thr621Ser)
c.1277C>G (p.Thr426Ser)
c.1988C>G (p.Thr663Ser)
c.1214C>G (p.Thr405Ser)
c.1181C>G (p.Thr394Ser)
n.2215C>G
c.1394C>G (p.Thr465Ser)
n.2209C>G
Xg.53250684G>TCA413162942IQSEC2c.2051C>A (p.Thr684Asn)
c.1892C>A (p.Thr631Asn)
c.1862C>A (p.Thr621Asn)
c.1277C>A (p.Thr426Asn)
c.1988C>A (p.Thr663Asn)
c.1214C>A (p.Thr405Asn)
c.1181C>A (p.Thr394Asn)
n.2215C>A
c.1394C>A (p.Thr465Asn)
n.2209C>A
Xg.53250685T>ACA413162946IQSEC2c.2050A>T (p.Thr684Ser)
c.1891A>T (p.Thr631Ser)
c.1861A>T (p.Thr621Ser)
c.1276A>T (p.Thr426Ser)
c.1987A>T (p.Thr663Ser)
c.1213A>T (p.Thr405Ser)
c.1180A>T (p.Thr394Ser)
n.2214A>T
c.1393A>T (p.Thr465Ser)
n.2208A>T
Xg.53250685T>CCA413162947IQSEC2c.2050A>G (p.Thr684Ala)
c.1891A>G (p.Thr631Ala)
c.1861A>G (p.Thr621Ala)
c.1276A>G (p.Thr426Ala)
c.1987A>G (p.Thr663Ala)
c.1213A>G (p.Thr405Ala)
c.1180A>G (p.Thr394Ala)
n.2214A>G
c.1393A>G (p.Thr465Ala)
n.2208A>G
Xg.53250685T>GCA413162949IQSEC2c.2050A>C (p.Thr684Pro)
c.1891A>C (p.Thr631Pro)
c.1861A>C (p.Thr621Pro)
c.1276A>C (p.Thr426Pro)
c.1987A>C (p.Thr663Pro)
c.1213A>C (p.Thr405Pro)
c.1180A>C (p.Thr394Pro)
n.2214A>C
c.1393A>C (p.Thr465Pro)
n.2208A>C
Xg.53250686C>ACA516674026IQSEC2c.2049G>T (p.Gly683=)
c.1890G>T (p.Gly630=)
c.1860G>T (p.Gly620=)
c.1275G>T (p.Gly425=)
c.1986G>T (p.Gly662=)
c.1212G>T (p.Gly404=)
c.1179G>T (p.Gly393=)
n.2213G>T
c.1392G>T (p.Gly464=)
n.2207G>T
Xg.53250686C>GCA516674027IQSEC2c.2049G>C (p.Gly683=)
c.1890G>C (p.Gly630=)
c.1860G>C (p.Gly620=)
c.1275G>C (p.Gly425=)
c.1986G>C (p.Gly662=)
c.1212G>C (p.Gly404=)
c.1179G>C (p.Gly393=)
n.2213G>C
c.1392G>C (p.Gly464=)
n.2207G>C
Xg.53250686C>TCA516674029IQSEC2c.2049G>A (p.Gly683=)
c.1890G>A (p.Gly630=)
c.1860G>A (p.Gly620=)
c.1275G>A (p.Gly425=)
c.1986G>A (p.Gly662=)
c.1212G>A (p.Gly404=)
c.1179G>A (p.Gly393=)
n.2213G>A
c.1392G>A (p.Gly464=)
n.2207G>A
Xg.53250687C>ACA413162951IQSEC2c.2048G>T (p.Gly683Val)
c.1889G>T (p.Gly630Val)
c.1859G>T (p.Gly620Val)
c.1274G>T (p.Gly425Val)
c.1985G>T (p.Gly662Val)
c.1211G>T (p.Gly404Val)
c.1178G>T (p.Gly393Val)
n.2212G>T
c.1391G>T (p.Gly464Val)
n.2206G>T
 dbSNP gnomAD v2
Xg.53250687C=CA2429775611IQSEC2c.2048G= (p.Gly683=)
c.1889G= (p.Gly630=)
c.1859G= (p.Gly620=)
c.1274G= (p.Gly425=)
c.1985G= (p.Gly662=)
c.1211G= (p.Gly404=)
c.1178G= (p.Gly393=)
n.2212G=
c.1391G= (p.Gly464=)
n.2206G=
Xg.53250687C>GCA413162952IQSEC2c.2048G>C (p.Gly683Ala)
c.1889G>C (p.Gly630Ala)
c.1859G>C (p.Gly620Ala)
c.1274G>C (p.Gly425Ala)
c.1985G>C (p.Gly662Ala)
c.1211G>C (p.Gly404Ala)
c.1178G>C (p.Gly393Ala)
n.2212G>C
c.1391G>C (p.Gly464Ala)
n.2206G>C
Xg.53250687C>TCA413162953IQSEC2c.2048G>A (p.Gly683Glu)
c.1889G>A (p.Gly630Glu)
c.1859G>A (p.Gly620Glu)
c.1274G>A (p.Gly425Glu)
c.1985G>A (p.Gly662Glu)
c.1211G>A (p.Gly404Glu)
c.1178G>A (p.Gly393Glu)
n.2212G>A
c.1391G>A (p.Gly464Glu)
n.2206G>A
Xg.53250688C>ACA413162956IQSEC2c.2047G>T (p.Gly683Trp)
c.1888G>T (p.Gly630Trp)
c.1858G>T (p.Gly620Trp)
c.1273G>T (p.Gly425Trp)
c.1984G>T (p.Gly662Trp)
c.1210G>T (p.Gly404Trp)
c.1177G>T (p.Gly393Trp)
n.2211G>T
c.1390G>T (p.Gly464Trp)
n.2205G>T
Xg.53250688C>GCA413162957IQSEC2c.2047G>C (p.Gly683Arg)
c.1888G>C (p.Gly630Arg)
c.1858G>C (p.Gly620Arg)
c.1273G>C (p.Gly425Arg)
c.1984G>C (p.Gly662Arg)
c.1210G>C (p.Gly404Arg)
c.1177G>C (p.Gly393Arg)
n.2211G>C
c.1390G>C (p.Gly464Arg)
n.2205G>C
Xg.53250688C>TCA413162959IQSEC2c.2047G>A (p.Gly683Arg)
c.1888G>A (p.Gly630Arg)
c.1858G>A (p.Gly620Arg)
c.1273G>A (p.Gly425Arg)
c.1984G>A (p.Gly662Arg)
c.1210G>A (p.Gly404Arg)
c.1177G>A (p.Gly393Arg)
n.2211G>A
c.1390G>A (p.Gly464Arg)
n.2205G>A
Xg.53250689A>CCA413162961IQSEC2c.2046T>G (p.His682Gln)
c.1887T>G (p.His629Gln)
c.1857T>G (p.His619Gln)
c.1272T>G (p.His424Gln)
c.1983T>G (p.His661Gln)
c.1209T>G (p.His403Gln)
c.1176T>G (p.His392Gln)
n.2210T>G
c.1389T>G (p.His463Gln)
n.2204T>G
Xg.53250689A>GCA516674034IQSEC2c.2046T>C (p.His682=)
c.1887T>C (p.His629=)
c.1857T>C (p.His619=)
c.1272T>C (p.His424=)
c.1983T>C (p.His661=)
c.1209T>C (p.His403=)
c.1176T>C (p.His392=)
n.2210T>C
c.1389T>C (p.His463=)
n.2204T>C
 gnomAD v4 COSMIC COSMIC COSMIC
Xg.53250689A>TCA413162963IQSEC2c.2046T>A (p.His682Gln)
c.1887T>A (p.His629Gln)
c.1857T>A (p.His619Gln)
c.1272T>A (p.His424Gln)
c.1983T>A (p.His661Gln)
c.1209T>A (p.His403Gln)
c.1176T>A (p.His392Gln)
n.2210T>A
c.1389T>A (p.His463Gln)
n.2204T>A
Xg.53250690T>ACA413162968IQSEC2c.2045A>T (p.His682Leu)
c.1886A>T (p.His629Leu)
c.1856A>T (p.His619Leu)
c.1271A>T (p.His424Leu)
c.1982A>T (p.His661Leu)
c.1208A>T (p.His403Leu)
c.1175A>T (p.His392Leu)
n.2209A>T
c.1388A>T (p.His463Leu)
n.2203A>T
Xg.53250690T>CCA413162970IQSEC2c.2045A>G (p.His682Arg)
c.1886A>G (p.His629Arg)
c.1856A>G (p.His619Arg)
c.1271A>G (p.His424Arg)
c.1982A>G (p.His661Arg)
c.1208A>G (p.His403Arg)
c.1175A>G (p.His392Arg)
n.2209A>G
c.1388A>G (p.His463Arg)
n.2203A>G
 ClinVar dbSNP
Xg.53250690T>GCA413162966IQSEC2c.2045A>C (p.His682Pro)
c.1886A>C (p.His629Pro)
c.1856A>C (p.His619Pro)
c.1271A>C (p.His424Pro)
c.1982A>C (p.His661Pro)
c.1208A>C (p.His403Pro)
c.1175A>C (p.His392Pro)
n.2209A>C
c.1388A>C (p.His463Pro)
n.2203A>C
Xg.53250690T=CA2429775612IQSEC2c.2045A= (p.His682=)
c.1886A= (p.His629=)
c.1856A= (p.His619=)
c.1271A= (p.His424=)
c.1982A= (p.His661=)
c.1208A= (p.His403=)
c.1175A= (p.His392=)
n.2209A=
c.1388A= (p.His463=)
n.2203A=
Xg.53250691G>ACA413162974IQSEC2c.2044C>T (p.His682Tyr)
c.1885C>T (p.His629Tyr)
c.1855C>T (p.His619Tyr)
c.1270C>T (p.His424Tyr)
c.1981C>T (p.His661Tyr)
c.1207C>T (p.His403Tyr)
c.1174C>T (p.His392Tyr)
n.2208C>T
c.1387C>T (p.His463Tyr)
n.2202C>T
 dbSNP
Xg.53250691G>CCA413162977IQSEC2c.2044C>G (p.His682Asp)
c.1885C>G (p.His629Asp)
c.1855C>G (p.His619Asp)
c.1270C>G (p.His424Asp)
c.1981C>G (p.His661Asp)
c.1207C>G (p.His403Asp)
c.1174C>G (p.His392Asp)
n.2208C>G
c.1387C>G (p.His463Asp)
n.2202C>G
Xg.53250691G=CA2429775613IQSEC2c.2044C= (p.His682=)
c.1885C= (p.His629=)
c.1855C= (p.His619=)
c.1270C= (p.His424=)
c.1981C= (p.His661=)
c.1207C= (p.His403=)
c.1174C= (p.His392=)
n.2208C=
c.1387C= (p.His463=)
n.2202C=
Xg.53250691G>TCA413162980IQSEC2c.2044C>A (p.His682Asn)
c.1885C>A (p.His629Asn)
c.1855C>A (p.His619Asn)
c.1270C>A (p.His424Asn)
c.1981C>A (p.His661Asn)
c.1207C>A (p.His403Asn)
c.1174C>A (p.His392Asn)
n.2208C>A
c.1387C>A (p.His463Asn)
n.2202C>A
Xg.53250695dupCA2820946937IQSEC2c.2044dup (p.His682ProfsTer24)
c.1885dup (p.His629ProfsTer24)
c.1855dup (p.His619ProfsTer24)
c.1270dup (p.His424ProfsTer24)
c.1981dup (p.His661ProfsTer24)
c.1207dup (p.His403ProfsTer24)
c.1174dup (p.His392ProfsTer24)
n.2208dup
c.1387dup (p.His463ProfsTer24)
n.2202dup
Xg.53250695delCA645609637IQSEC2c.2044del (p.His682MetfsTer4)
c.1885del (p.His629MetfsTer4)
c.1855del (p.His619MetfsTer4)
c.1270del (p.His424MetfsTer4)
c.1981del (p.His661MetfsTer4)
c.1207del (p.His403MetfsTer4)
c.1174del (p.His392MetfsTer4)
n.2208del
c.1387del (p.His463MetfsTer4)
n.2202del
 gnomAD v4 COSMIC COSMIC COSMIC
Xg.53250692G>ACA516674040IQSEC2c.2043C>T (p.Pro681=)
c.1884C>T (p.Pro628=)
c.1854C>T (p.Pro618=)
c.1269C>T (p.Pro423=)
c.1980C>T (p.Pro660=)
c.1206C>T (p.Pro402=)
c.1173C>T (p.Pro391=)
n.2207C>T
c.1386C>T (p.Pro462=)
n.2201C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.53250692G>CCA516674043IQSEC2c.2043C>G (p.Pro681=)
c.1884C>G (p.Pro628=)
c.1854C>G (p.Pro618=)
c.1269C>G (p.Pro423=)
c.1980C>G (p.Pro660=)
c.1206C>G (p.Pro402=)
c.1173C>G (p.Pro391=)
n.2207C>G
c.1386C>G (p.Pro462=)
n.2201C>G
Xg.53250692G=CA2429775614IQSEC2c.2043C= (p.Pro681=)
c.1884C= (p.Pro628=)
c.1854C= (p.Pro618=)
c.1269C= (p.Pro423=)
c.1980C= (p.Pro660=)
c.1206C= (p.Pro402=)
c.1173C= (p.Pro391=)
n.2207C=
c.1386C= (p.Pro462=)
n.2201C=
Xg.53250692G>TCA516674044IQSEC2c.2043C>A (p.Pro681=)
c.1884C>A (p.Pro628=)
c.1854C>A (p.Pro618=)
c.1269C>A (p.Pro423=)
c.1980C>A (p.Pro660=)
c.1206C>A (p.Pro402=)
c.1173C>A (p.Pro391=)
n.2207C>A
c.1386C>A (p.Pro462=)
n.2201C>A
 dbSNP gnomAD v4
Xg.53250693G>ACA413162984IQSEC2c.2042C>T (p.Pro681Leu)
c.1883C>T (p.Pro628Leu)
c.1853C>T (p.Pro618Leu)
c.1268C>T (p.Pro423Leu)
c.1979C>T (p.Pro660Leu)
c.1205C>T (p.Pro402Leu)
c.1172C>T (p.Pro391Leu)
n.2206C>T
c.1385C>T (p.Pro462Leu)
n.2200C>T
 dbSNP gnomAD v3 gnomAD v4
Xg.53250693G>CCA413162986IQSEC2c.2042C>G (p.Pro681Arg)
c.1883C>G (p.Pro628Arg)
c.1853C>G (p.Pro618Arg)
c.1268C>G (p.Pro423Arg)
c.1979C>G (p.Pro660Arg)
c.1205C>G (p.Pro402Arg)
c.1172C>G (p.Pro391Arg)
n.2206C>G
c.1385C>G (p.Pro462Arg)
n.2200C>G
Xg.53250693G=CA2429775615IQSEC2c.2042C= (p.Pro681=)
c.1883C= (p.Pro628=)
c.1853C= (p.Pro618=)
c.1268C= (p.Pro423=)
c.1979C= (p.Pro660=)
c.1205C= (p.Pro402=)
c.1172C= (p.Pro391=)
n.2206C=
c.1385C= (p.Pro462=)
n.2200C=
Xg.53250693G>TCA413162990IQSEC2c.2042C>A (p.Pro681His)
c.1883C>A (p.Pro628His)
c.1853C>A (p.Pro618His)
c.1268C>A (p.Pro423His)
c.1979C>A (p.Pro660His)
c.1205C>A (p.Pro402His)
c.1172C>A (p.Pro391His)
n.2206C>A
c.1385C>A (p.Pro462His)
n.2200C>A
Xg.53250694G>ACA413162998IQSEC2c.2041C>T (p.Pro681Ser)
c.1882C>T (p.Pro628Ser)
c.1852C>T (p.Pro618Ser)
c.1267C>T (p.Pro423Ser)
c.1978C>T (p.Pro660Ser)
c.1204C>T (p.Pro402Ser)
c.1171C>T (p.Pro391Ser)
n.2205C>T
c.1384C>T (p.Pro462Ser)
n.2199C>T
 COSMIC COSMIC COSMIC
Xg.53250694G>CCA413162993IQSEC2c.2041C>G (p.Pro681Ala)
c.1882C>G (p.Pro628Ala)
c.1852C>G (p.Pro618Ala)
c.1267C>G (p.Pro423Ala)
c.1978C>G (p.Pro660Ala)
c.1204C>G (p.Pro402Ala)
c.1171C>G (p.Pro391Ala)
n.2205C>G
c.1384C>G (p.Pro462Ala)
n.2199C>G
Xg.53250694G>TCA413162995IQSEC2c.2041C>A (p.Pro681Thr)
c.1882C>A (p.Pro628Thr)
c.1852C>A (p.Pro618Thr)
c.1267C>A (p.Pro423Thr)
c.1978C>A (p.Pro660Thr)
c.1204C>A (p.Pro402Thr)
c.1171C>A (p.Pro391Thr)
n.2205C>A
c.1384C>A (p.Pro462Thr)
n.2199C>A
Xg.53250694_53250696delinsGGCCA2429775616IQSEC2c.2039_2041delinsGCC (p.Ser680=)
c.1880_1882delinsGCC (p.Ser627=)
c.1850_1852delinsGCC (p.Ser617=)
c.1265_1267delinsGCC (p.Ser422=)
c.1976_1978delinsGCC (p.Ser659=)
c.1202_1204delinsGCC (p.Ser401=)
c.1169_1171delinsGCC (p.Ser390=)
n.2203_2205delinsGCC
c.1382_1384delinsGCC (p.Ser461=)
n.2197_2199delinsGCC
Xg.53250695G>ACA516674048IQSEC2c.2040C>T (p.Ser680=)
c.1881C>T (p.Ser627=)
c.1851C>T (p.Ser617=)
c.1266C>T (p.Ser422=)
c.1977C>T (p.Ser659=)
c.1203C>T (p.Ser401=)
c.1170C>T (p.Ser390=)
n.2204C>T
c.1383C>T (p.Ser461=)
n.2198C>T
Xg.53250695G>CCA413163001IQSEC2c.2040C>G (p.Ser680Arg)
c.1881C>G (p.Ser627Arg)
c.1851C>G (p.Ser617Arg)
c.1266C>G (p.Ser422Arg)
c.1977C>G (p.Ser659Arg)
c.1203C>G (p.Ser401Arg)
c.1170C>G (p.Ser390Arg)
n.2204C>G
c.1383C>G (p.Ser461Arg)
n.2198C>G
Xg.53250695G>TCA413163002IQSEC2c.2040C>A (p.Ser680Arg)
c.1881C>A (p.Ser627Arg)
c.1851C>A (p.Ser617Arg)
c.1266C>A (p.Ser422Arg)
c.1977C>A (p.Ser659Arg)
c.1203C>A (p.Ser401Arg)
c.1170C>A (p.Ser390Arg)
n.2204C>A
c.1383C>A (p.Ser461Arg)
n.2198C>A
Xg.53250695_53250696delCA1139667567IQSEC2c.2039_2040del (p.Ser680ThrfsTer25)
c.1880_1881del (p.Ser627ThrfsTer25)
c.1850_1851del (p.Ser617ThrfsTer25)
c.1265_1266del (p.Ser422ThrfsTer25)
c.1976_1977del (p.Ser659ThrfsTer25)
c.1202_1203del (p.Ser401ThrfsTer25)
c.1169_1170del (p.Ser390ThrfsTer25)
n.2203_2204del
c.1382_1383del (p.Ser461ThrfsTer25)
n.2197_2198del
 ClinVar dbSNP
Xg.53250696C>ACA413163006IQSEC2c.2039G>T (p.Ser680Ile)
c.1880G>T (p.Ser627Ile)
c.1850G>T (p.Ser617Ile)
c.1265G>T (p.Ser422Ile)
c.1976G>T (p.Ser659Ile)
c.1202G>T (p.Ser401Ile)
c.1169G>T (p.Ser390Ile)
n.2203G>T
c.1382G>T (p.Ser461Ile)
n.2197G>T
Xg.53250696C>GCA413163008IQSEC2c.2039G>C (p.Ser680Thr)
c.1880G>C (p.Ser627Thr)
c.1850G>C (p.Ser617Thr)
c.1265G>C (p.Ser422Thr)
c.1976G>C (p.Ser659Thr)
c.1202G>C (p.Ser401Thr)
c.1169G>C (p.Ser390Thr)
n.2203G>C
c.1382G>C (p.Ser461Thr)
n.2197G>C
Xg.53250696C>TCA413163011IQSEC2c.2039G>A (p.Ser680Asn)
c.1880G>A (p.Ser627Asn)
c.1850G>A (p.Ser617Asn)
c.1265G>A (p.Ser422Asn)
c.1976G>A (p.Ser659Asn)
c.1202G>A (p.Ser401Asn)
c.1169G>A (p.Ser390Asn)
n.2203G>A
c.1382G>A (p.Ser461Asn)
n.2197G>A
Xg.53250697T>ACA413163015IQSEC2c.2038A>T (p.Ser680Cys)
c.1879A>T (p.Ser627Cys)
c.1849A>T (p.Ser617Cys)
c.1264A>T (p.Ser422Cys)
c.1975A>T (p.Ser659Cys)
c.1201A>T (p.Ser401Cys)
c.1168A>T (p.Ser390Cys)
n.2202A>T
c.1381A>T (p.Ser461Cys)
n.2196A>T
Xg.53250697T>CCA413163019IQSEC2c.2038A>G (p.Ser680Gly)
c.1879A>G (p.Ser627Gly)
c.1849A>G (p.Ser617Gly)
c.1264A>G (p.Ser422Gly)
c.1975A>G (p.Ser659Gly)
c.1201A>G (p.Ser401Gly)
c.1168A>G (p.Ser390Gly)
n.2202A>G
c.1381A>G (p.Ser461Gly)
n.2196A>G
Xg.53250697T>GCA413163017IQSEC2c.2038A>C (p.Ser680Arg)
c.1879A>C (p.Ser627Arg)
c.1849A>C (p.Ser617Arg)
c.1264A>C (p.Ser422Arg)
c.1975A>C (p.Ser659Arg)
c.1201A>C (p.Ser401Arg)
c.1168A>C (p.Ser390Arg)
n.2202A>C
c.1381A>C (p.Ser461Arg)
n.2196A>C
Xg.53250698G>ACA516674053IQSEC2c.2037C>T (p.Cys679=)
c.1878C>T (p.Cys626=)
c.1848C>T (p.Cys616=)
c.1263C>T (p.Cys421=)
c.1974C>T (p.Cys658=)
c.1200C>T (p.Cys400=)
c.1167C>T (p.Cys389=)
n.2201C>T
c.1380C>T (p.Cys460=)
n.2195C>T
 ClinVar gnomAD v4
Xg.53250698G>CCA413163022IQSEC2c.2037C>G (p.Cys679Trp)
c.1878C>G (p.Cys626Trp)
c.1848C>G (p.Cys616Trp)
c.1263C>G (p.Cys421Trp)
c.1974C>G (p.Cys658Trp)
c.1200C>G (p.Cys400Trp)
c.1167C>G (p.Cys389Trp)
n.2201C>G
c.1380C>G (p.Cys460Trp)
n.2195C>G
Xg.53250698G>TCA413163025IQSEC2c.2037C>A (p.Cys679Ter)
c.1878C>A (p.Cys626Ter)
c.1848C>A (p.Cys616Ter)
c.1263C>A (p.Cys421Ter)
c.1974C>A (p.Cys658Ter)
c.1200C>A (p.Cys400Ter)
c.1167C>A (p.Cys389Ter)
n.2201C>A
c.1380C>A (p.Cys460Ter)
n.2195C>A
Xg.53250699C>ACA413163028IQSEC2c.2036G>T (p.Cys679Phe)
c.1877G>T (p.Cys626Phe)
c.1847G>T (p.Cys616Phe)
c.1262G>T (p.Cys421Phe)
c.1973G>T (p.Cys658Phe)
c.1199G>T (p.Cys400Phe)
c.1166G>T (p.Cys389Phe)
n.2200G>T
c.1379G>T (p.Cys460Phe)
n.2194G>T
Xg.53250699C>GCA413163031IQSEC2c.2036G>C (p.Cys679Ser)
c.1877G>C (p.Cys626Ser)
c.1847G>C (p.Cys616Ser)
c.1262G>C (p.Cys421Ser)
c.1973G>C (p.Cys658Ser)
c.1199G>C (p.Cys400Ser)
c.1166G>C (p.Cys389Ser)
n.2200G>C
c.1379G>C (p.Cys460Ser)
n.2194G>C
Xg.53250699C>TCA413163033IQSEC2c.2036G>A (p.Cys679Tyr)
c.1877G>A (p.Cys626Tyr)
c.1847G>A (p.Cys616Tyr)
c.1262G>A (p.Cys421Tyr)
c.1973G>A (p.Cys658Tyr)
c.1199G>A (p.Cys400Tyr)
c.1166G>A (p.Cys389Tyr)
n.2200G>A
c.1379G>A (p.Cys460Tyr)
n.2194G>A
Xg.53250700A=CA2429775617IQSEC2c.2035T= (p.Cys679=)
c.1876T= (p.Cys626=)
c.1846T= (p.Cys616=)
c.1261T= (p.Cys421=)
c.1972T= (p.Cys658=)
c.1198T= (p.Cys400=)
c.1165T= (p.Cys389=)
n.2199T=
c.1378T= (p.Cys460=)
n.2193T=
Xg.53250700A>CCA10419997IQSEC2c.2035T>G (p.Cys679Gly)
c.1876T>G (p.Cys626Gly)
c.1846T>G (p.Cys616Gly)
c.1261T>G (p.Cys421Gly)
c.1972T>G (p.Cys658Gly)
c.1198T>G (p.Cys400Gly)
c.1165T>G (p.Cys389Gly)
n.2199T>G
c.1378T>G (p.Cys460Gly)
n.2193T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.53250700A>GCA413163037IQSEC2c.2035T>C (p.Cys679Arg)
c.1876T>C (p.Cys626Arg)
c.1846T>C (p.Cys616Arg)
c.1261T>C (p.Cys421Arg)
c.1972T>C (p.Cys658Arg)
c.1198T>C (p.Cys400Arg)
c.1165T>C (p.Cys389Arg)
n.2199T>C
c.1378T>C (p.Cys460Arg)
n.2193T>C
Xg.53250700A>TCA413163041IQSEC2c.2035T>A (p.Cys679Ser)
c.1876T>A (p.Cys626Ser)
c.1846T>A (p.Cys616Ser)
c.1261T>A (p.Cys421Ser)
c.1972T>A (p.Cys658Ser)
c.1198T>A (p.Cys400Ser)
c.1165T>A (p.Cys389Ser)
n.2199T>A
c.1378T>A (p.Cys460Ser)
n.2193T>A
Xg.53250701G>ACA516674057IQSEC2c.2034C>T (p.Gly678=)
c.1875C>T (p.Gly625=)
c.1845C>T (p.Gly615=)
c.1260C>T (p.Gly420=)
c.1971C>T (p.Gly657=)
c.1197C>T (p.Gly399=)
c.1164C>T (p.Gly388=)
n.2198C>T
c.1377C>T (p.Gly459=)
n.2192C>T
 dbSNP
Xg.53250701G>CCA516674060IQSEC2c.2034C>G (p.Gly678=)
c.1875C>G (p.Gly625=)
c.1845C>G (p.Gly615=)
c.1260C>G (p.Gly420=)
c.1971C>G (p.Gly657=)
c.1197C>G (p.Gly399=)
c.1164C>G (p.Gly388=)
n.2198C>G
c.1377C>G (p.Gly459=)
n.2192C>G
Xg.53250701G=CA2429775618IQSEC2c.2034C= (p.Gly678=)
c.1875C= (p.Gly625=)
c.1845C= (p.Gly615=)
c.1260C= (p.Gly420=)
c.1971C= (p.Gly657=)
c.1197C= (p.Gly399=)
c.1164C= (p.Gly388=)
n.2198C=
c.1377C= (p.Gly459=)
n.2192C=
Xg.53250701G>TCA516674062IQSEC2c.2034C>A (p.Gly678=)
c.1875C>A (p.Gly625=)
c.1845C>A (p.Gly615=)
c.1260C>A (p.Gly420=)
c.1971C>A (p.Gly657=)
c.1197C>A (p.Gly399=)
c.1164C>A (p.Gly388=)
n.2198C>A
c.1377C>A (p.Gly459=)
n.2192C>A
Xg.53250702C>ACA413163044IQSEC2c.2033G>T (p.Gly678Val)
c.1874G>T (p.Gly625Val)
c.1844G>T (p.Gly615Val)
c.1259G>T (p.Gly420Val)
c.1970G>T (p.Gly657Val)
c.1196G>T (p.Gly399Val)
c.1163G>T (p.Gly388Val)
n.2197G>T
c.1376G>T (p.Gly459Val)
n.2191G>T
Xg.53250702C>GCA413163046IQSEC2c.2033G>C (p.Gly678Ala)
c.1874G>C (p.Gly625Ala)
c.1844G>C (p.Gly615Ala)
c.1259G>C (p.Gly420Ala)
c.1970G>C (p.Gly657Ala)
c.1196G>C (p.Gly399Ala)
c.1163G>C (p.Gly388Ala)
n.2197G>C
c.1376G>C (p.Gly459Ala)
n.2191G>C
Xg.53250702C>TCA413163048IQSEC2c.2033G>A (p.Gly678Asp)
c.1874G>A (p.Gly625Asp)
c.1844G>A (p.Gly615Asp)
c.1259G>A (p.Gly420Asp)
c.1970G>A (p.Gly657Asp)
c.1196G>A (p.Gly399Asp)
c.1163G>A (p.Gly388Asp)
n.2197G>A
c.1376G>A (p.Gly459Asp)
n.2191G>A
 ClinVar
Xg.53250703C>ACA413163057IQSEC2c.2032G>T (p.Gly678Cys)
c.1873G>T (p.Gly625Cys)
c.1843G>T (p.Gly615Cys)
c.1258G>T (p.Gly420Cys)
c.1969G>T (p.Gly657Cys)
c.1195G>T (p.Gly399Cys)
c.1162G>T (p.Gly388Cys)
n.2196G>T
c.1375G>T (p.Gly459Cys)
n.2190G>T
Xg.53250703C>GCA413163054IQSEC2c.2032G>C (p.Gly678Arg)
c.1873G>C (p.Gly625Arg)
c.1843G>C (p.Gly615Arg)
c.1258G>C (p.Gly420Arg)
c.1969G>C (p.Gly657Arg)
c.1195G>C (p.Gly399Arg)
c.1162G>C (p.Gly388Arg)
n.2196G>C
c.1375G>C (p.Gly459Arg)
n.2190G>C
Xg.53250703C>TCA413163051IQSEC2c.2032G>A (p.Gly678Ser)
c.1873G>A (p.Gly625Ser)
c.1843G>A (p.Gly615Ser)
c.1258G>A (p.Gly420Ser)
c.1969G>A (p.Gly657Ser)
c.1195G>A (p.Gly399Ser)
c.1162G>A (p.Gly388Ser)
n.2196G>A
c.1375G>A (p.Gly459Ser)
n.2190G>A
Xg.53250704A>CCA413163061IQSEC2c.2031T>G (p.Asp677Glu)
c.1872T>G (p.Asp624Glu)
c.1842T>G (p.Asp614Glu)
c.1257T>G (p.Asp419Glu)
c.1968T>G (p.Asp656Glu)
c.1194T>G (p.Asp398Glu)
c.1161T>G (p.Asp387Glu)
n.2195T>G
c.1374T>G (p.Asp458Glu)
n.2189T>G
Xg.53250704A>GCA516674066IQSEC2c.2031T>C (p.Asp677=)
c.1872T>C (p.Asp624=)
c.1842T>C (p.Asp614=)
c.1257T>C (p.Asp419=)
c.1968T>C (p.Asp656=)
c.1194T>C (p.Asp398=)
c.1161T>C (p.Asp387=)
n.2195T>C
c.1374T>C (p.Asp458=)
n.2189T>C
 ClinVar
Xg.53250704A>TCA413163069IQSEC2c.2031T>A (p.Asp677Glu)
c.1872T>A (p.Asp624Glu)
c.1842T>A (p.Asp614Glu)
c.1257T>A (p.Asp419Glu)
c.1968T>A (p.Asp656Glu)
c.1194T>A (p.Asp398Glu)
c.1161T>A (p.Asp387Glu)
n.2195T>A
c.1374T>A (p.Asp458Glu)
n.2189T>A
 gnomAD v4
Xg.53250705T>ACA413163074IQSEC2c.2030A>T (p.Asp677Val)
c.1871A>T (p.Asp624Val)
c.1841A>T (p.Asp614Val)
c.1256A>T (p.Asp419Val)
c.1967A>T (p.Asp656Val)
c.1193A>T (p.Asp398Val)
c.1160A>T (p.Asp387Val)
n.2194A>T
c.1373A>T (p.Asp458Val)
n.2188A>T
 gnomAD v4
Xg.53250705T>CCA413163078IQSEC2c.2030A>G (p.Asp677Gly)
c.1871A>G (p.Asp624Gly)
c.1841A>G (p.Asp614Gly)
c.1256A>G (p.Asp419Gly)
c.1967A>G (p.Asp656Gly)
c.1193A>G (p.Asp398Gly)
c.1160A>G (p.Asp387Gly)
n.2194A>G
c.1373A>G (p.Asp458Gly)
n.2188A>G
Xg.53250705T>GCA413163076IQSEC2c.2030A>C (p.Asp677Ala)
c.1871A>C (p.Asp624Ala)
c.1841A>C (p.Asp614Ala)
c.1256A>C (p.Asp419Ala)
c.1967A>C (p.Asp656Ala)
c.1193A>C (p.Asp398Ala)
c.1160A>C (p.Asp387Ala)
n.2194A>C
c.1373A>C (p.Asp458Ala)
n.2188A>C
Xg.53250706C>ACA413163082IQSEC2c.2029G>T (p.Asp677Tyr)
c.1870G>T (p.Asp624Tyr)
c.1840G>T (p.Asp614Tyr)
c.1255G>T (p.Asp419Tyr)
c.1966G>T (p.Asp656Tyr)
c.1192G>T (p.Asp398Tyr)
c.1159G>T (p.Asp387Tyr)
n.2193G>T
c.1372G>T (p.Asp458Tyr)
n.2187G>T
 gnomAD v4
Xg.53250706C>GCA413163087IQSEC2c.2029G>C (p.Asp677His)
c.1870G>C (p.Asp624His)
c.1840G>C (p.Asp614His)
c.1255G>C (p.Asp419His)
c.1966G>C (p.Asp656His)
c.1192G>C (p.Asp398His)
c.1159G>C (p.Asp387His)
n.2193G>C
c.1372G>C (p.Asp458His)
n.2187G>C
Xg.53250706C>TCA413163084IQSEC2c.2029G>A (p.Asp677Asn)
c.1870G>A (p.Asp624Asn)
c.1840G>A (p.Asp614Asn)
c.1255G>A (p.Asp419Asn)
c.1966G>A (p.Asp656Asn)
c.1192G>A (p.Asp398Asn)
c.1159G>A (p.Asp387Asn)
n.2193G>A
c.1372G>A (p.Asp458Asn)
n.2187G>A
Xg.53250707A=CA2429775619IQSEC2c.2028T= (p.Ala676=)
c.1869T= (p.Ala623=)
c.1839T= (p.Ala613=)
c.1254T= (p.Ala418=)
c.1965T= (p.Ala655=)
c.1191T= (p.Ala397=)
c.1158T= (p.Ala386=)
n.2192T=
c.1371T= (p.Ala457=)
n.2186T=
Xg.53250707A>CCA10419998IQSEC2c.2028T>G (p.Ala676=)
c.1869T>G (p.Ala623=)
c.1839T>G (p.Ala613=)
c.1254T>G (p.Ala418=)
c.1965T>G (p.Ala655=)
c.1191T>G (p.Ala397=)
c.1158T>G (p.Ala386=)
n.2192T>G
c.1371T>G (p.Ala457=)
n.2186T>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.53250707A>GCA516674072IQSEC2c.2028T>C (p.Ala676=)
c.1869T>C (p.Ala623=)
c.1839T>C (p.Ala613=)
c.1254T>C (p.Ala418=)
c.1965T>C (p.Ala655=)
c.1191T>C (p.Ala397=)
c.1158T>C (p.Ala386=)
n.2192T>C
c.1371T>C (p.Ala457=)
n.2186T>C
 gnomAD v4
Xg.53250707A>TCA516674073IQSEC2c.2028T>A (p.Ala676=)
c.1869T>A (p.Ala623=)
c.1839T>A (p.Ala613=)
c.1254T>A (p.Ala418=)
c.1965T>A (p.Ala655=)
c.1191T>A (p.Ala397=)
c.1158T>A (p.Ala386=)
n.2192T>A
c.1371T>A (p.Ala457=)
n.2186T>A
Xg.53250708G>ACA413163094IQSEC2c.2027C>T (p.Ala676Val)
c.1868C>T (p.Ala623Val)
c.1838C>T (p.Ala613Val)
c.1253C>T (p.Ala418Val)
c.1964C>T (p.Ala655Val)
c.1190C>T (p.Ala397Val)
c.1157C>T (p.Ala386Val)
n.2191C>T
c.1370C>T (p.Ala457Val)
n.2185C>T
 ClinVar
Xg.53250708G>CCA413163096IQSEC2c.2027C>G (p.Ala676Gly)
c.1868C>G (p.Ala623Gly)
c.1838C>G (p.Ala613Gly)
c.1253C>G (p.Ala418Gly)
c.1964C>G (p.Ala655Gly)
c.1190C>G (p.Ala397Gly)
c.1157C>G (p.Ala386Gly)
n.2191C>G
c.1370C>G (p.Ala457Gly)
n.2185C>G
Xg.53250708G>TCA413163098IQSEC2c.2027C>A (p.Ala676Asp)
c.1868C>A (p.Ala623Asp)
c.1838C>A (p.Ala613Asp)
c.1253C>A (p.Ala418Asp)
c.1964C>A (p.Ala655Asp)
c.1190C>A (p.Ala397Asp)
c.1157C>A (p.Ala386Asp)
n.2191C>A
c.1370C>A (p.Ala457Asp)
n.2185C>A
Xg.53250709C>ACA413163103IQSEC2c.2026G>T (p.Ala676Ser)
c.1867G>T (p.Ala623Ser)
c.1837G>T (p.Ala613Ser)
c.1252G>T (p.Ala418Ser)
c.1963G>T (p.Ala655Ser)
c.1189G>T (p.Ala397Ser)
c.1156G>T (p.Ala386Ser)
n.2190G>T
c.1369G>T (p.Ala457Ser)
n.2184G>T
Xg.53250709C>GCA413163104IQSEC2c.2026G>C (p.Ala676Pro)
c.1867G>C (p.Ala623Pro)
c.1837G>C (p.Ala613Pro)
c.1252G>C (p.Ala418Pro)
c.1963G>C (p.Ala655Pro)
c.1189G>C (p.Ala397Pro)
c.1156G>C (p.Ala386Pro)
n.2190G>C
c.1369G>C (p.Ala457Pro)
n.2184G>C
Xg.53250709C>TCA413163107IQSEC2c.2026G>A (p.Ala676Thr)
c.1867G>A (p.Ala623Thr)
c.1837G>A (p.Ala613Thr)
c.1252G>A (p.Ala418Thr)
c.1963G>A (p.Ala655Thr)
c.1189G>A (p.Ala397Thr)
c.1156G>A (p.Ala386Thr)
n.2190G>A
c.1369G>A (p.Ala457Thr)
n.2184G>A
Xg.53250710C>ACA413163109IQSEC2c.2025G>T (p.Glu675Asp)
c.1866G>T (p.Glu622Asp)
c.1836G>T (p.Glu612Asp)
c.1251G>T (p.Glu417Asp)
c.1962G>T (p.Glu654Asp)
c.1188G>T (p.Glu396Asp)
c.1155G>T (p.Glu385Asp)
n.2189G>T
c.1368G>T (p.Glu456Asp)
n.2183G>T
Xg.53250710C=CA2429775620IQSEC2c.2025G= (p.Glu675=)
c.1866G= (p.Glu622=)
c.1836G= (p.Glu612=)
c.1251G= (p.Glu417=)
c.1962G= (p.Glu654=)
c.1188G= (p.Glu396=)
c.1155G= (p.Glu385=)
n.2189G=
c.1368G= (p.Glu456=)
n.2183G=
Xg.53250710C>GCA413163112IQSEC2c.2025G>C (p.Glu675Asp)
c.1866G>C (p.Glu622Asp)
c.1836G>C (p.Glu612Asp)
c.1251G>C (p.Glu417Asp)
c.1962G>C (p.Glu654Asp)
c.1188G>C (p.Glu396Asp)
c.1155G>C (p.Glu385Asp)
n.2189G>C
c.1368G>C (p.Glu456Asp)
n.2183G>C
Xg.53250710C>TCA10419999IQSEC2c.2025G>A (p.Glu675=)
c.1866G>A (p.Glu622=)
c.1836G>A (p.Glu612=)
c.1251G>A (p.Glu417=)
c.1962G>A (p.Glu654=)
c.1188G>A (p.Glu396=)
c.1155G>A (p.Glu385=)
n.2189G>A
c.1368G>A (p.Glu456=)
n.2183G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.53250711T>ACA413163131IQSEC2c.2024A>T (p.Glu675Val)
c.1865A>T (p.Glu622Val)
c.1835A>T (p.Glu612Val)
c.1250A>T (p.Glu417Val)
c.1961A>T (p.Glu654Val)
c.1187A>T (p.Glu396Val)
c.1154A>T (p.Glu385Val)
n.2188A>T
c.1367A>T (p.Glu456Val)
n.2182A>T
Xg.53250711T>CCA413163128IQSEC2c.2024A>G (p.Glu675Gly)
c.1865A>G (p.Glu622Gly)
c.1835A>G (p.Glu612Gly)
c.1250A>G (p.Glu417Gly)
c.1961A>G (p.Glu654Gly)
c.1187A>G (p.Glu396Gly)
c.1154A>G (p.Glu385Gly)
n.2188A>G
c.1367A>G (p.Glu456Gly)
n.2182A>G
 dbSNP
Xg.53250711T>GCA413163118IQSEC2c.2024A>C (p.Glu675Ala)
c.1865A>C (p.Glu622Ala)
c.1835A>C (p.Glu612Ala)
c.1250A>C (p.Glu417Ala)
c.1961A>C (p.Glu654Ala)
c.1187A>C (p.Glu396Ala)
c.1154A>C (p.Glu385Ala)
n.2188A>C
c.1367A>C (p.Glu456Ala)
n.2182A>C
Xg.53250711T=CA2429775621IQSEC2c.2024A= (p.Glu675=)
c.1865A= (p.Glu622=)
c.1835A= (p.Glu612=)
c.1250A= (p.Glu417=)
c.1961A= (p.Glu654=)
c.1187A= (p.Glu396=)
c.1154A= (p.Glu385=)
n.2188A=
c.1367A= (p.Glu456=)
n.2182A=
Xg.53250712C>ACA413163133IQSEC2c.2023G>T (p.Glu675Ter)
c.1864G>T (p.Glu622Ter)
c.1834G>T (p.Glu612Ter)
c.1249G>T (p.Glu417Ter)
c.1960G>T (p.Glu654Ter)
c.1186G>T (p.Glu396Ter)
c.1153G>T (p.Glu385Ter)
n.2187G>T
c.1366G>T (p.Glu456Ter)
n.2181G>T
Xg.53250712C>GCA413163135IQSEC2c.2023G>C (p.Glu675Gln)
c.1864G>C (p.Glu622Gln)
c.1834G>C (p.Glu612Gln)
c.1249G>C (p.Glu417Gln)
c.1960G>C (p.Glu654Gln)
c.1186G>C (p.Glu396Gln)
c.1153G>C (p.Glu385Gln)
n.2187G>C
c.1366G>C (p.Glu456Gln)
n.2181G>C
Xg.53250712C>TCA413163137IQSEC2c.2023G>A (p.Glu675Lys)
c.1864G>A (p.Glu622Lys)
c.1834G>A (p.Glu612Lys)
c.1249G>A (p.Glu417Lys)
c.1960G>A (p.Glu654Lys)
c.1186G>A (p.Glu396Lys)
c.1153G>A (p.Glu385Lys)
n.2187G>A
c.1366G>A (p.Glu456Lys)
n.2181G>A
 gnomAD v4
Xg.53250713A>CCA413163139IQSEC2c.2022T>G (p.Tyr674Ter)
c.1863T>G (p.Tyr621Ter)
c.1833T>G (p.Tyr611Ter)
c.1248T>G (p.Tyr416Ter)
c.1959T>G (p.Tyr653Ter)
c.1185T>G (p.Tyr395Ter)
c.1152T>G (p.Tyr384Ter)
n.2186T>G
c.1365T>G (p.Tyr455Ter)
n.2180T>G
Xg.53250713A>GCA516674080IQSEC2c.2022T>C (p.Tyr674=)
c.1863T>C (p.Tyr621=)
c.1833T>C (p.Tyr611=)
c.1248T>C (p.Tyr416=)
c.1959T>C (p.Tyr653=)
c.1185T>C (p.Tyr395=)
c.1152T>C (p.Tyr384=)
n.2186T>C
c.1365T>C (p.Tyr455=)
n.2180T>C
 gnomAD v4
Xg.53250713A>TCA413163142IQSEC2c.2022T>A (p.Tyr674Ter)
c.1863T>A (p.Tyr621Ter)
c.1833T>A (p.Tyr611Ter)
c.1248T>A (p.Tyr416Ter)
c.1959T>A (p.Tyr653Ter)
c.1185T>A (p.Tyr395Ter)
c.1152T>A (p.Tyr384Ter)
n.2186T>A
c.1365T>A (p.Tyr455Ter)
n.2180T>A
Xg.53250714T>ACA413163145IQSEC2c.2021A>T (p.Tyr674Phe)
c.1862A>T (p.Tyr621Phe)
c.1832A>T (p.Tyr611Phe)
c.1247A>T (p.Tyr416Phe)
c.1958A>T (p.Tyr653Phe)
c.1184A>T (p.Tyr395Phe)
c.1151A>T (p.Tyr384Phe)
n.2185A>T
c.1364A>T (p.Tyr455Phe)
n.2179A>T
Xg.53250714T>CCA413163147IQSEC2c.2021A>G (p.Tyr674Cys)
c.1862A>G (p.Tyr621Cys)
c.1832A>G (p.Tyr611Cys)
c.1247A>G (p.Tyr416Cys)
c.1958A>G (p.Tyr653Cys)
c.1184A>G (p.Tyr395Cys)
c.1151A>G (p.Tyr384Cys)
n.2185A>G
c.1364A>G (p.Tyr455Cys)
n.2179A>G
Xg.53250714T>GCA413163150IQSEC2c.2021A>C (p.Tyr674Ser)
c.1862A>C (p.Tyr621Ser)
c.1832A>C (p.Tyr611Ser)
c.1247A>C (p.Tyr416Ser)
c.1958A>C (p.Tyr653Ser)
c.1184A>C (p.Tyr395Ser)
c.1151A>C (p.Tyr384Ser)
n.2185A>C
c.1364A>C (p.Tyr455Ser)
n.2179A>C
Xg.53250715A>CCA413163154IQSEC2c.2020T>G (p.Tyr674Asp)
c.1861T>G (p.Tyr621Asp)
c.1831T>G (p.Tyr611Asp)
c.1246T>G (p.Tyr416Asp)
c.1957T>G (p.Tyr653Asp)
c.1183T>G (p.Tyr395Asp)
c.1150T>G (p.Tyr384Asp)
n.2184T>G
c.1363T>G (p.Tyr455Asp)
n.2178T>G
 ClinVar
Xg.53250715A>GCA413163156IQSEC2c.2020T>C (p.Tyr674His)
c.1861T>C (p.Tyr621His)
c.1831T>C (p.Tyr611His)
c.1246T>C (p.Tyr416His)
c.1957T>C (p.Tyr653His)
c.1183T>C (p.Tyr395His)
c.1150T>C (p.Tyr384His)
n.2184T>C
c.1363T>C (p.Tyr455His)
n.2178T>C
Xg.53250715A>TCA413163158IQSEC2c.2020T>A (p.Tyr674Asn)
c.1861T>A (p.Tyr621Asn)
c.1831T>A (p.Tyr611Asn)
c.1246T>A (p.Tyr416Asn)
c.1957T>A (p.Tyr653Asn)
c.1183T>A (p.Tyr395Asn)
c.1150T>A (p.Tyr384Asn)
n.2184T>A
c.1363T>A (p.Tyr455Asn)
n.2178T>A
Xg.53250715dupCA2695233929IQSEC2c.2020dup (p.Tyr674LeufsTer2)
c.1861dup (p.Tyr621LeufsTer2)
c.1831dup (p.Tyr611LeufsTer2)
c.1246dup (p.Tyr416LeufsTer2)
c.1957dup (p.Tyr653LeufsTer2)
c.1183dup (p.Tyr395LeufsTer2)
c.1150dup (p.Tyr384LeufsTer2)
n.2184dup
c.1363dup (p.Tyr455LeufsTer2)
n.2178dup
Xg.53250716C>ACA516674082IQSEC2c.2019G>T (p.Val673=)
c.1860G>T (p.Val620=)
c.1830G>T (p.Val610=)
c.1245G>T (p.Val415=)
c.1956G>T (p.Val652=)
c.1182G>T (p.Val394=)
c.1149G>T (p.Val383=)
n.2183G>T
c.1362G>T (p.Val454=)
n.2177G>T
Xg.53250716C>GCA516674083IQSEC2c.2019G>C (p.Val673=)
c.1860G>C (p.Val620=)
c.1830G>C (p.Val610=)
c.1245G>C (p.Val415=)
c.1956G>C (p.Val652=)
c.1182G>C (p.Val394=)
c.1149G>C (p.Val383=)
n.2183G>C
c.1362G>C (p.Val454=)
n.2177G>C
Xg.53250716C>TCA516674084IQSEC2c.2019G>A (p.Val673=)
c.1860G>A (p.Val620=)
c.1830G>A (p.Val610=)
c.1245G>A (p.Val415=)
c.1956G>A (p.Val652=)
c.1182G>A (p.Val394=)
c.1149G>A (p.Val383=)
n.2183G>A
c.1362G>A (p.Val454=)
n.2177G>A
Xg.53250717A>CCA413163167IQSEC2c.2018T>G (p.Val673Gly)
c.1859T>G (p.Val620Gly)
c.1829T>G (p.Val610Gly)
c.1244T>G (p.Val415Gly)
c.1955T>G (p.Val652Gly)
c.1181T>G (p.Val394Gly)
c.1148T>G (p.Val383Gly)
n.2182T>G
c.1361T>G (p.Val454Gly)
n.2176T>G
Xg.53250717A>GCA413163164IQSEC2c.2018T>C (p.Val673Ala)
c.1859T>C (p.Val620Ala)
c.1829T>C (p.Val610Ala)
c.1244T>C (p.Val415Ala)
c.1955T>C (p.Val652Ala)
c.1181T>C (p.Val394Ala)
c.1148T>C (p.Val383Ala)
n.2182T>C
c.1361T>C (p.Val454Ala)
n.2176T>C
 gnomAD v4
Xg.53250717A>TCA413163161IQSEC2c.2018T>A (p.Val673Glu)
c.1859T>A (p.Val620Glu)
c.1829T>A (p.Val610Glu)
c.1244T>A (p.Val415Glu)
c.1955T>A (p.Val652Glu)
c.1181T>A (p.Val394Glu)
c.1148T>A (p.Val383Glu)
n.2182T>A
c.1361T>A (p.Val454Glu)
n.2176T>A
Xg.53250718C>ACA413163170IQSEC2c.2017G>T (p.Val673Leu)
c.1858G>T (p.Val620Leu)
c.1828G>T (p.Val610Leu)
c.1243G>T (p.Val415Leu)
c.1954G>T (p.Val652Leu)
c.1180G>T (p.Val394Leu)
c.1147G>T (p.Val383Leu)
n.2181G>T
c.1360G>T (p.Val454Leu)
n.2175G>T
Xg.53250718C>GCA413163172IQSEC2c.2017G>C (p.Val673Leu)
c.1858G>C (p.Val620Leu)
c.1828G>C (p.Val610Leu)
c.1243G>C (p.Val415Leu)
c.1954G>C (p.Val652Leu)
c.1180G>C (p.Val394Leu)
c.1147G>C (p.Val383Leu)
n.2181G>C
c.1360G>C (p.Val454Leu)
n.2175G>C
Xg.53250718C>TCA413163175IQSEC2c.2017G>A (p.Val673Met)
c.1858G>A (p.Val620Met)
c.1828G>A (p.Val610Met)
c.1243G>A (p.Val415Met)
c.1954G>A (p.Val652Met)
c.1180G>A (p.Val394Met)
c.1147G>A (p.Val383Met)
n.2181G>A
c.1360G>A (p.Val454Met)
n.2175G>A
Xg.53250719C>ACA516674089IQSEC2c.2016G>T (p.Leu672=)
c.1857G>T (p.Leu619=)
c.1827G>T (p.Leu609=)
c.1242G>T (p.Leu414=)
c.1953G>T (p.Leu651=)
c.1179G>T (p.Leu393=)
c.1146G>T (p.Leu382=)
n.2180G>T
c.1359G>T (p.Leu453=)
n.2174G>T
Xg.53250719C>GCA516674090IQSEC2c.2016G>C (p.Leu672=)
c.1857G>C (p.Leu619=)
c.1827G>C (p.Leu609=)
c.1242G>C (p.Leu414=)
c.1953G>C (p.Leu651=)
c.1179G>C (p.Leu393=)
c.1146G>C (p.Leu382=)
n.2180G>C
c.1359G>C (p.Leu453=)
n.2174G>C
Xg.53250719C>TCA516674091IQSEC2c.2016G>A (p.Leu672=)
c.1857G>A (p.Leu619=)
c.1827G>A (p.Leu609=)
c.1242G>A (p.Leu414=)
c.1953G>A (p.Leu651=)
c.1179G>A (p.Leu393=)
c.1146G>A (p.Leu382=)
n.2180G>A
c.1359G>A (p.Leu453=)
n.2174G>A
Xg.53250720A=CA2429775622IQSEC2c.2015T= (p.Leu672=)
c.1856T= (p.Leu619=)
c.1826T= (p.Leu609=)
c.1241T= (p.Leu414=)
c.1952T= (p.Leu651=)
c.1178T= (p.Leu393=)
c.1145T= (p.Leu382=)
n.2179T=
c.1358T= (p.Leu453=)
n.2173T=
Xg.53250720A>CCA10420000IQSEC2c.2015T>G (p.Leu672Arg)
c.1856T>G (p.Leu619Arg)
c.1826T>G (p.Leu609Arg)
c.1241T>G (p.Leu414Arg)
c.1952T>G (p.Leu651Arg)
c.1178T>G (p.Leu393Arg)
c.1145T>G (p.Leu382Arg)
n.2179T>G
c.1358T>G (p.Leu453Arg)
n.2173T>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53250720A>GCA413163181IQSEC2c.2015T>C (p.Leu672Pro)
c.1856T>C (p.Leu619Pro)
c.1826T>C (p.Leu609Pro)
c.1241T>C (p.Leu414Pro)
c.1952T>C (p.Leu651Pro)
c.1178T>C (p.Leu393Pro)
c.1145T>C (p.Leu382Pro)
n.2179T>C
c.1358T>C (p.Leu453Pro)
n.2173T>C
Xg.53250720A>TCA413163184IQSEC2c.2015T>A (p.Leu672Gln)
c.1856T>A (p.Leu619Gln)
c.1826T>A (p.Leu609Gln)
c.1241T>A (p.Leu414Gln)
c.1952T>A (p.Leu651Gln)
c.1178T>A (p.Leu393Gln)
c.1145T>A (p.Leu382Gln)
n.2179T>A
c.1358T>A (p.Leu453Gln)
n.2173T>A
Xg.53250721G>ACA516674095IQSEC2c.2014C>T (p.Leu672=)
c.1855C>T (p.Leu619=)
c.1825C>T (p.Leu609=)
c.1240C>T (p.Leu414=)
c.1951C>T (p.Leu651=)
c.1177C>T (p.Leu393=)
c.1144C>T (p.Leu382=)
n.2178C>T
c.1357C>T (p.Leu453=)
n.2172C>T
Xg.53250721G>CCA413163188IQSEC2c.2014C>G (p.Leu672Val)
c.1855C>G (p.Leu619Val)
c.1825C>G (p.Leu609Val)
c.1240C>G (p.Leu414Val)
c.1951C>G (p.Leu651Val)
c.1177C>G (p.Leu393Val)
c.1144C>G (p.Leu382Val)
n.2178C>G
c.1357C>G (p.Leu453Val)
n.2172C>G
Xg.53250721G>TCA413163189IQSEC2c.2014C>A (p.Leu672Met)
c.1855C>A (p.Leu619Met)
c.1825C>A (p.Leu609Met)
c.1240C>A (p.Leu414Met)
c.1951C>A (p.Leu651Met)
c.1177C>A (p.Leu393Met)
c.1144C>A (p.Leu382Met)
n.2178C>A
c.1357C>A (p.Leu453Met)
n.2172C>A
Xg.53250722C>ACA413163192IQSEC2c.2013G>T (p.Gln671His)
c.1854G>T (p.Gln618His)
c.1824G>T (p.Gln608His)
c.1239G>T (p.Gln413His)
c.1950G>T (p.Gln650His)
c.1176G>T (p.Gln392His)
c.1143G>T (p.Gln381His)
n.2177G>T
c.1356G>T (p.Gln452His)
n.2171G>T
Xg.53250722C>GCA413163195IQSEC2c.2013G>C (p.Gln671His)
c.1854G>C (p.Gln618His)
c.1824G>C (p.Gln608His)
c.1239G>C (p.Gln413His)
c.1950G>C (p.Gln650His)
c.1176G>C (p.Gln392His)
c.1143G>C (p.Gln381His)
n.2177G>C
c.1356G>C (p.Gln452His)
n.2171G>C
Xg.53250722C>TCA516674096IQSEC2c.2013G>A (p.Gln671=)
c.1854G>A (p.Gln618=)
c.1824G>A (p.Gln608=)
c.1239G>A (p.Gln413=)
c.1950G>A (p.Gln650=)
c.1176G>A (p.Gln392=)
c.1143G>A (p.Gln381=)
n.2177G>A
c.1356G>A (p.Gln452=)
n.2171G>A
Xg.53250723T>ACA413163198IQSEC2c.2012A>T (p.Gln671Leu)
c.1853A>T (p.Gln618Leu)
c.1823A>T (p.Gln608Leu)
c.1238A>T (p.Gln413Leu)
c.1949A>T (p.Gln650Leu)
c.1175A>T (p.Gln392Leu)
c.1142A>T (p.Gln381Leu)
n.2176A>T
c.1355A>T (p.Gln452Leu)
n.2170A>T
Xg.53250723T>CCA413163200IQSEC2c.2012A>G (p.Gln671Arg)
c.1853A>G (p.Gln618Arg)
c.1823A>G (p.Gln608Arg)
c.1238A>G (p.Gln413Arg)
c.1949A>G (p.Gln650Arg)
c.1175A>G (p.Gln392Arg)
c.1142A>G (p.Gln381Arg)
n.2176A>G
c.1355A>G (p.Gln452Arg)
n.2170A>G
Xg.53250723T>GCA413163203IQSEC2c.2012A>C (p.Gln671Pro)
c.1853A>C (p.Gln618Pro)
c.1823A>C (p.Gln608Pro)
c.1238A>C (p.Gln413Pro)
c.1949A>C (p.Gln650Pro)
c.1175A>C (p.Gln392Pro)
c.1142A>C (p.Gln381Pro)
n.2176A>C
c.1355A>C (p.Gln452Pro)
n.2170A>C
Xg.53250724G>ACA413163205IQSEC2c.2011C>T (p.Gln671Ter)
c.1852C>T (p.Gln618Ter)
c.1822C>T (p.Gln608Ter)
c.1237C>T (p.Gln413Ter)
c.1948C>T (p.Gln650Ter)
c.1174C>T (p.Gln392Ter)
c.1141C>T (p.Gln381Ter)
n.2175C>T
c.1354C>T (p.Gln452Ter)
n.2169C>T
Xg.53250724G>CCA413163210IQSEC2c.2011C>G (p.Gln671Glu)
c.1852C>G (p.Gln618Glu)
c.1822C>G (p.Gln608Glu)
c.1237C>G (p.Gln413Glu)
c.1948C>G (p.Gln650Glu)
c.1174C>G (p.Gln392Glu)
c.1141C>G (p.Gln381Glu)
n.2175C>G
c.1354C>G (p.Gln452Glu)
n.2169C>G
Xg.53250724G>TCA413163207IQSEC2c.2011C>A (p.Gln671Lys)
c.1852C>A (p.Gln618Lys)
c.1822C>A (p.Gln608Lys)
c.1237C>A (p.Gln413Lys)
c.1948C>A (p.Gln650Lys)
c.1174C>A (p.Gln392Lys)
c.1141C>A (p.Gln381Lys)
n.2175C>A
c.1354C>A (p.Gln452Lys)
n.2169C>A
Xg.53250725G>ACA516674100IQSEC2c.2010C>T (p.Arg670=)
c.1851C>T (p.Arg617=)
c.1821C>T (p.Arg607=)
c.1236C>T (p.Arg412=)
c.1947C>T (p.Arg649=)
c.1173C>T (p.Arg391=)
c.1140C>T (p.Arg380=)
n.2174C>T
c.1353C>T (p.Arg451=)
n.2168C>T
Xg.53250725G>CCA516674101IQSEC2c.2010C>G (p.Arg670=)
c.1851C>G (p.Arg617=)
c.1821C>G (p.Arg607=)
c.1236C>G (p.Arg412=)
c.1947C>G (p.Arg649=)
c.1173C>G (p.Arg391=)
c.1140C>G (p.Arg380=)
n.2174C>G
c.1353C>G (p.Arg451=)
n.2168C>G
Xg.53250725G>TCA516674102IQSEC2c.2010C>A (p.Arg670=)
c.1851C>A (p.Arg617=)
c.1821C>A (p.Arg607=)
c.1236C>A (p.Arg412=)
c.1947C>A (p.Arg649=)
c.1173C>A (p.Arg391=)
c.1140C>A (p.Arg380=)
n.2174C>A
c.1353C>A (p.Arg451=)
n.2168C>A
Xg.53250726C>ACA413163214IQSEC2c.2009G>T (p.Arg670Leu)
c.1850G>T (p.Arg617Leu)
c.1820G>T (p.Arg607Leu)
c.1235G>T (p.Arg412Leu)
c.1946G>T (p.Arg649Leu)
c.1172G>T (p.Arg391Leu)
c.1139G>T (p.Arg380Leu)
n.2173G>T
c.1352G>T (p.Arg451Leu)
n.2167G>T
Xg.53250726C=CA2429775623IQSEC2c.2009G= (p.Arg670=)
c.1850G= (p.Arg617=)
c.1820G= (p.Arg607=)
c.1235G= (p.Arg412=)
c.1946G= (p.Arg649=)
c.1172G= (p.Arg391=)
c.1139G= (p.Arg380=)
n.2173G=
c.1352G= (p.Arg451=)
n.2167G=
Xg.53250726C>GCA413163217IQSEC2c.2009G>C (p.Arg670Pro)
c.1850G>C (p.Arg617Pro)
c.1820G>C (p.Arg607Pro)
c.1235G>C (p.Arg412Pro)
c.1946G>C (p.Arg649Pro)
c.1172G>C (p.Arg391Pro)
c.1139G>C (p.Arg380Pro)
n.2173G>C
c.1352G>C (p.Arg451Pro)
n.2167G>C
Xg.53250726C>TCA413163219IQSEC2c.2009G>A (p.Arg670His)
c.1850G>A (p.Arg617His)
c.1820G>A (p.Arg607His)
c.1235G>A (p.Arg412His)
c.1946G>A (p.Arg649His)
c.1172G>A (p.Arg391His)
c.1139G>A (p.Arg380His)
n.2173G>A
c.1352G>A (p.Arg451His)
n.2167G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
Xg.53250726_53250727delinsCGCA2429775624IQSEC2c.2008_2009delinsCG (p.Arg670=)
c.1849_1850delinsCG (p.Arg617=)
c.1819_1820delinsCG (p.Arg607=)
c.1234_1235delinsCG (p.Arg412=)
c.1945_1946delinsCG (p.Arg649=)
c.1171_1172delinsCG (p.Arg391=)
c.1138_1139delinsCG (p.Arg380=)
n.2172_2173delinsCG
c.1351_1352delinsCG (p.Arg451=)
n.2166_2167delinsCG
Xg.53250727G>ACA413163222IQSEC2c.2008C>T (p.Arg670Cys)
c.1849C>T (p.Arg617Cys)
c.1819C>T (p.Arg607Cys)
c.1234C>T (p.Arg412Cys)
c.1945C>T (p.Arg649Cys)
c.1171C>T (p.Arg391Cys)
c.1138C>T (p.Arg380Cys)
n.2172C>T
c.1351C>T (p.Arg451Cys)
n.2166C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
Xg.53250727G>CCA413163224IQSEC2c.2008C>G (p.Arg670Gly)
c.1849C>G (p.Arg617Gly)
c.1819C>G (p.Arg607Gly)
c.1234C>G (p.Arg412Gly)
c.1945C>G (p.Arg649Gly)
c.1171C>G (p.Arg391Gly)
c.1138C>G (p.Arg380Gly)
n.2172C>G
c.1351C>G (p.Arg451Gly)
n.2166C>G
Xg.53250727G=CA2429775625IQSEC2c.2008C= (p.Arg670=)
c.1849C= (p.Arg617=)
c.1819C= (p.Arg607=)
c.1234C= (p.Arg412=)
c.1945C= (p.Arg649=)
c.1171C= (p.Arg391=)
c.1138C= (p.Arg380=)
n.2172C=
c.1351C= (p.Arg451=)
n.2166C=
Xg.53250727G>TCA413163227IQSEC2c.2008C>A (p.Arg670Ser)
c.1849C>A (p.Arg617Ser)
c.1819C>A (p.Arg607Ser)
c.1234C>A (p.Arg412Ser)
c.1945C>A (p.Arg649Ser)
c.1171C>A (p.Arg391Ser)
c.1138C>A (p.Arg380Ser)
n.2172C>A
c.1351C>A (p.Arg451Ser)
n.2166C>A
Xg.53250728delCA1139667568IQSEC2c.2008del (p.Arg670AlafsTer16)
c.1849del (p.Arg617AlafsTer16)
c.1819del (p.Arg607AlafsTer16)
c.1234del (p.Arg412AlafsTer16)
c.1945del (p.Arg649AlafsTer16)
c.1171del (p.Arg391AlafsTer16)
c.1138del (p.Arg380AlafsTer16)
n.2172del
c.1351del (p.Arg451AlafsTer16)
n.2166del
 ClinVar dbSNP
Xg.53250728G>ACA329166183IQSEC2c.2007C>T (p.His669=)
c.1848C>T (p.His616=)
c.1818C>T (p.His606=)
c.1233C>T (p.His411=)
c.1944C>T (p.His648=)
c.1170C>T (p.His390=)
c.1137C>T (p.His379=)
n.2171C>T
c.1350C>T (p.His450=)
n.2165C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.53250728G>CCA413163236IQSEC2c.2007C>G (p.His669Gln)
c.1848C>G (p.His616Gln)
c.1818C>G (p.His606Gln)
c.1233C>G (p.His411Gln)
c.1944C>G (p.His648Gln)
c.1170C>G (p.His390Gln)
c.1137C>G (p.His379Gln)
n.2171C>G
c.1350C>G (p.His450Gln)
n.2165C>G
Xg.53250728G=CA2429775626IQSEC2c.2007C= (p.His669=)
c.1848C= (p.His616=)
c.1818C= (p.His606=)
c.1233C= (p.His411=)
c.1944C= (p.His648=)
c.1170C= (p.His390=)
c.1137C= (p.His379=)
n.2171C=
c.1350C= (p.His450=)
n.2165C=
Xg.53250728G>TCA413163238IQSEC2c.2007C>A (p.His669Gln)
c.1848C>A (p.His616Gln)
c.1818C>A (p.His606Gln)
c.1233C>A (p.His411Gln)
c.1944C>A (p.His648Gln)
c.1170C>A (p.His390Gln)
c.1137C>A (p.His379Gln)
n.2171C>A
c.1350C>A (p.His450Gln)
n.2165C>A
Xg.53250729T>ACA413163242IQSEC2c.2006A>T (p.His669Leu)
c.1847A>T (p.His616Leu)
c.1817A>T (p.His606Leu)
c.1232A>T (p.His411Leu)
c.1943A>T (p.His648Leu)
c.1169A>T (p.His390Leu)
c.1136A>T (p.His379Leu)
n.2170A>T
c.1349A>T (p.His450Leu)
n.2164A>T
Xg.53250729T>CCA413163244IQSEC2c.2006A>G (p.His669Arg)
c.1847A>G (p.His616Arg)
c.1817A>G (p.His606Arg)
c.1232A>G (p.His411Arg)
c.1943A>G (p.His648Arg)
c.1169A>G (p.His390Arg)
c.1136A>G (p.His379Arg)
n.2170A>G
c.1349A>G (p.His450Arg)
n.2164A>G
Xg.53250729T>GCA413163253IQSEC2c.2006A>C (p.His669Pro)
c.1847A>C (p.His616Pro)
c.1817A>C (p.His606Pro)
c.1232A>C (p.His411Pro)
c.1943A>C (p.His648Pro)
c.1169A>C (p.His390Pro)
c.1136A>C (p.His379Pro)
n.2170A>C
c.1349A>C (p.His450Pro)
n.2164A>C
Xg.53250730G>ACA413163259IQSEC2c.2005C>T (p.His669Tyr)
c.1846C>T (p.His616Tyr)
c.1816C>T (p.His606Tyr)
c.1231C>T (p.His411Tyr)
c.1942C>T (p.His648Tyr)
c.1168C>T (p.His390Tyr)
c.1135C>T (p.His379Tyr)
n.2169C>T
c.1348C>T (p.His450Tyr)
n.2163C>T
 dbSNP
Xg.53250730G>CCA413163261IQSEC2c.2005C>G (p.His669Asp)
c.1846C>G (p.His616Asp)
c.1816C>G (p.His606Asp)
c.1231C>G (p.His411Asp)
c.1942C>G (p.His648Asp)
c.1168C>G (p.His390Asp)
c.1135C>G (p.His379Asp)
n.2169C>G
c.1348C>G (p.His450Asp)
n.2163C>G
Xg.53250730G=CA2429775627IQSEC2c.2005C= (p.His669=)
c.1846C= (p.His616=)
c.1816C= (p.His606=)
c.1231C= (p.His411=)
c.1942C= (p.His648=)
c.1168C= (p.His390=)
c.1135C= (p.His379=)
n.2169C=
c.1348C= (p.His450=)
n.2163C=
Xg.53250730G>TCA413163257IQSEC2c.2005C>A (p.His669Asn)
c.1846C>A (p.His616Asn)
c.1816C>A (p.His606Asn)
c.1231C>A (p.His411Asn)
c.1942C>A (p.His648Asn)
c.1168C>A (p.His390Asn)
c.1135C>A (p.His379Asn)
n.2169C>A
c.1348C>A (p.His450Asn)
n.2163C>A
Xg.53250731G>ACA516674107IQSEC2c.2004C>T (p.Val668=)
c.1845C>T (p.Val615=)
c.1815C>T (p.Val605=)
c.1230C>T (p.Val410=)
c.1941C>T (p.Val647=)
c.1167C>T (p.Val389=)
c.1134C>T (p.Val378=)
n.2168C>T
c.1347C>T (p.Val449=)
n.2162C>T
Xg.53250731G>CCA516674106IQSEC2c.2004C>G (p.Val668=)
c.1845C>G (p.Val615=)
c.1815C>G (p.Val605=)
c.1230C>G (p.Val410=)
c.1941C>G (p.Val647=)
c.1167C>G (p.Val389=)
c.1134C>G (p.Val378=)
n.2168C>G
c.1347C>G (p.Val449=)
n.2162C>G
Xg.53250731G>TCA516674105IQSEC2c.2004C>A (p.Val668=)
c.1845C>A (p.Val615=)
c.1815C>A (p.Val605=)
c.1230C>A (p.Val410=)
c.1941C>A (p.Val647=)
c.1167C>A (p.Val389=)
c.1134C>A (p.Val378=)
n.2168C>A
c.1347C>A (p.Val449=)
n.2162C>A
Xg.53250732A>CCA413163267IQSEC2c.2003T>G (p.Val668Gly)
c.1844T>G (p.Val615Gly)
c.1814T>G (p.Val605Gly)
c.1229T>G (p.Val410Gly)
c.1940T>G (p.Val647Gly)
c.1166T>G (p.Val389Gly)
c.1133T>G (p.Val378Gly)
n.2167T>G
c.1346T>G (p.Val449Gly)
n.2161T>G
Xg.53250732A>GCA413163263IQSEC2c.2003T>C (p.Val668Ala)
c.1844T>C (p.Val615Ala)
c.1814T>C (p.Val605Ala)
c.1229T>C (p.Val410Ala)
c.1940T>C (p.Val647Ala)
c.1166T>C (p.Val389Ala)
c.1133T>C (p.Val378Ala)
n.2167T>C
c.1346T>C (p.Val449Ala)
n.2161T>C
Xg.53250732A>TCA413163265IQSEC2c.2003T>A (p.Val668Asp)
c.1844T>A (p.Val615Asp)
c.1814T>A (p.Val605Asp)
c.1229T>A (p.Val410Asp)
c.1940T>A (p.Val647Asp)
c.1166T>A (p.Val389Asp)
c.1133T>A (p.Val378Asp)
n.2167T>A
c.1346T>A (p.Val449Asp)
n.2161T>A
Xg.53250733C>ACA413163268IQSEC2c.2002G>T (p.Val668Phe)
c.1843G>T (p.Val615Phe)
c.1813G>T (p.Val605Phe)
c.1228G>T (p.Val410Phe)
c.1939G>T (p.Val647Phe)
c.1165G>T (p.Val389Phe)
c.1132G>T (p.Val378Phe)
n.2166G>T
c.1345G>T (p.Val449Phe)
n.2160G>T
Xg.53250733C=CA2429775628IQSEC2c.2002G= (p.Val668=)
c.1843G= (p.Val615=)
c.1813G= (p.Val605=)
c.1228G= (p.Val410=)
c.1939G= (p.Val647=)
c.1165G= (p.Val389=)
c.1132G= (p.Val378=)
n.2166G=
c.1345G= (p.Val449=)
n.2160G=
Xg.53250733C>GCA413163269IQSEC2c.2002G>C (p.Val668Leu)
c.1843G>C (p.Val615Leu)
c.1813G>C (p.Val605Leu)
c.1228G>C (p.Val410Leu)
c.1939G>C (p.Val647Leu)
c.1165G>C (p.Val389Leu)
c.1132G>C (p.Val378Leu)
n.2166G>C
c.1345G>C (p.Val449Leu)
n.2160G>C
 dbSNP gnomAD v3 gnomAD v4
Xg.53250733C>TCA413163270IQSEC2c.2002G>A (p.Val668Ile)
c.1843G>A (p.Val615Ile)
c.1813G>A (p.Val605Ile)
c.1228G>A (p.Val410Ile)
c.1939G>A (p.Val647Ile)
c.1165G>A (p.Val389Ile)
c.1132G>A (p.Val378Ile)
n.2166G>A
c.1345G>A (p.Val449Ile)
n.2160G>A
 dbSNP gnomAD v2 gnomAD v4
Xg.53250734A>CCA516674111IQSEC2c.2001T>G (p.Ser667=)
c.1842T>G (p.Ser614=)
c.1812T>G (p.Ser604=)
c.1227T>G (p.Ser409=)
c.1938T>G (p.Ser646=)
c.1164T>G (p.Ser388=)
c.1131T>G (p.Ser377=)
n.2165T>G
c.1344T>G (p.Ser448=)
n.2159T>G
Xg.53250734A>GCA516674112IQSEC2c.2001T>C (p.Ser667=)
c.1842T>C (p.Ser614=)
c.1812T>C (p.Ser604=)
c.1227T>C (p.Ser409=)
c.1938T>C (p.Ser646=)
c.1164T>C (p.Ser388=)
c.1131T>C (p.Ser377=)
n.2165T>C
c.1344T>C (p.Ser448=)
n.2159T>C
Xg.53250734A>TCA516674113IQSEC2c.2001T>A (p.Ser667=)
c.1842T>A (p.Ser614=)
c.1812T>A (p.Ser604=)
c.1227T>A (p.Ser409=)
c.1938T>A (p.Ser646=)
c.1164T>A (p.Ser388=)
c.1131T>A (p.Ser377=)
n.2165T>A
c.1344T>A (p.Ser448=)
n.2159T>A
Xg.53250735G>ACA413163275IQSEC2c.2000C>T (p.Ser667Phe)
c.1841C>T (p.Ser614Phe)
c.1811C>T (p.Ser604Phe)
c.1226C>T (p.Ser409Phe)
c.1937C>T (p.Ser646Phe)
c.1163C>T (p.Ser388Phe)
c.1130C>T (p.Ser377Phe)
n.2164C>T
c.1343C>T (p.Ser448Phe)
n.2158C>T
 COSMIC COSMIC COSMIC
Xg.53250735G>CCA413163273IQSEC2c.2000C>G (p.Ser667Cys)
c.1841C>G (p.Ser614Cys)
c.1811C>G (p.Ser604Cys)
c.1226C>G (p.Ser409Cys)
c.1937C>G (p.Ser646Cys)
c.1163C>G (p.Ser388Cys)
c.1130C>G (p.Ser377Cys)
n.2164C>G
c.1343C>G (p.Ser448Cys)
n.2158C>G
Xg.53250735G>TCA413163271IQSEC2c.2000C>A (p.Ser667Tyr)
c.1841C>A (p.Ser614Tyr)
c.1811C>A (p.Ser604Tyr)
c.1226C>A (p.Ser409Tyr)
c.1937C>A (p.Ser646Tyr)
c.1163C>A (p.Ser388Tyr)
c.1130C>A (p.Ser377Tyr)
n.2164C>A
c.1343C>A (p.Ser448Tyr)
n.2158C>A
Xg.53250736A>CCA413163278IQSEC2c.1999T>G (p.Ser667Ala)
c.1840T>G (p.Ser614Ala)
c.1810T>G (p.Ser604Ala)
c.1225T>G (p.Ser409Ala)
c.1936T>G (p.Ser646Ala)
c.1162T>G (p.Ser388Ala)
c.1129T>G (p.Ser377Ala)
n.2163T>G
c.1342T>G (p.Ser448Ala)
n.2157T>G
Xg.53250736A>GCA413163280IQSEC2c.1999T>C (p.Ser667Pro)
c.1840T>C (p.Ser614Pro)
c.1810T>C (p.Ser604Pro)
c.1225T>C (p.Ser409Pro)
c.1936T>C (p.Ser646Pro)
c.1162T>C (p.Ser388Pro)
c.1129T>C (p.Ser377Pro)
n.2163T>C
c.1342T>C (p.Ser448Pro)
n.2157T>C
Xg.53250736A>TCA413163282IQSEC2c.1999T>A (p.Ser667Thr)
c.1840T>A (p.Ser614Thr)
c.1810T>A (p.Ser604Thr)
c.1225T>A (p.Ser409Thr)
c.1936T>A (p.Ser646Thr)
c.1162T>A (p.Ser388Thr)
c.1129T>A (p.Ser377Thr)
n.2163T>A
c.1342T>A (p.Ser448Thr)
n.2157T>A
Xg.53250737G>ACA516674115IQSEC2c.1998C>T (p.Gly666=)
c.1839C>T (p.Gly613=)
c.1809C>T (p.Gly603=)
c.1224C>T (p.Gly408=)
c.1935C>T (p.Gly645=)
c.1161C>T (p.Gly387=)
c.1128C>T (p.Gly376=)
n.2162C>T
c.1341C>T (p.Gly447=)
n.2156C>T
 gnomAD v4
Xg.53250737G>CCA516674116IQSEC2c.1998C>G (p.Gly666=)
c.1839C>G (p.Gly613=)
c.1809C>G (p.Gly603=)
c.1224C>G (p.Gly408=)
c.1935C>G (p.Gly645=)
c.1161C>G (p.Gly387=)
c.1128C>G (p.Gly376=)
n.2162C>G
c.1341C>G (p.Gly447=)
n.2156C>G
Xg.53250737G=CA2429775629IQSEC2c.1998C= (p.Gly666=)
c.1839C= (p.Gly613=)
c.1809C= (p.Gly603=)
c.1224C= (p.Gly408=)
c.1935C= (p.Gly645=)
c.1161C= (p.Gly387=)
c.1128C= (p.Gly376=)
n.2162C=
c.1341C= (p.Gly447=)
n.2156C=
Xg.53250737G>TCA516674117IQSEC2c.1998C>A (p.Gly666=)
c.1839C>A (p.Gly613=)
c.1809C>A (p.Gly603=)
c.1224C>A (p.Gly408=)
c.1935C>A (p.Gly645=)
c.1161C>A (p.Gly387=)
c.1128C>A (p.Gly376=)
n.2162C>A
c.1341C>A (p.Gly447=)
n.2156C>A
 dbSNP
Xg.53250738C>ACA413163285IQSEC2c.1997G>T (p.Gly666Val)
c.1838G>T (p.Gly613Val)
c.1808G>T (p.Gly603Val)
c.1223G>T (p.Gly408Val)
c.1934G>T (p.Gly645Val)
c.1160G>T (p.Gly387Val)
c.1127G>T (p.Gly376Val)
n.2161G>T
c.1340G>T (p.Gly447Val)
n.2155G>T
Xg.53250738C>GCA413163288IQSEC2c.1997G>C (p.Gly666Ala)
c.1838G>C (p.Gly613Ala)
c.1808G>C (p.Gly603Ala)
c.1223G>C (p.Gly408Ala)
c.1934G>C (p.Gly645Ala)
c.1160G>C (p.Gly387Ala)
c.1127G>C (p.Gly376Ala)
n.2161G>C
c.1340G>C (p.Gly447Ala)
n.2155G>C
Xg.53250738C>TCA413163290IQSEC2c.1997G>A (p.Gly666Asp)
c.1838G>A (p.Gly613Asp)
c.1808G>A (p.Gly603Asp)
c.1223G>A (p.Gly408Asp)
c.1934G>A (p.Gly645Asp)
c.1160G>A (p.Gly387Asp)
c.1127G>A (p.Gly376Asp)
n.2161G>A
c.1340G>A (p.Gly447Asp)
n.2155G>A
Xg.53250739C>ACA413163292IQSEC2c.1996G>T (p.Gly666Cys)
c.1837G>T (p.Gly613Cys)
c.1807G>T (p.Gly603Cys)
c.1222G>T (p.Gly408Cys)
c.1933G>T (p.Gly645Cys)
c.1159G>T (p.Gly387Cys)
c.1126G>T (p.Gly376Cys)
n.2160G>T
c.1339G>T (p.Gly447Cys)
n.2154G>T
 COSMIC COSMIC COSMIC
Xg.53250739C>GCA413163295IQSEC2c.1996G>C (p.Gly666Arg)
c.1837G>C (p.Gly613Arg)
c.1807G>C (p.Gly603Arg)
c.1222G>C (p.Gly408Arg)
c.1933G>C (p.Gly645Arg)
c.1159G>C (p.Gly387Arg)
c.1126G>C (p.Gly376Arg)
n.2160G>C
c.1339G>C (p.Gly447Arg)
n.2154G>C
Xg.53250739C>TCA413163294IQSEC2c.1996G>A (p.Gly666Ser)
c.1837G>A (p.Gly613Ser)
c.1807G>A (p.Gly603Ser)
c.1222G>A (p.Gly408Ser)
c.1933G>A (p.Gly645Ser)
c.1159G>A (p.Gly387Ser)
c.1126G>A (p.Gly376Ser)
n.2160G>A
c.1339G>A (p.Gly447Ser)
n.2154G>A
Xg.53250740G>ACA516674121IQSEC2c.1995C>T (p.Arg665=)
c.1836C>T (p.Arg612=)
c.1806C>T (p.Arg602=)
c.1221C>T (p.Arg407=)
c.1932C>T (p.Arg644=)
c.1158C>T (p.Arg386=)
c.1125C>T (p.Arg375=)
n.2159C>T
c.1338C>T (p.Arg446=)
n.2153C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
Xg.53250740G>CCA516674122IQSEC2c.1995C>G (p.Arg665=)
c.1836C>G (p.Arg612=)
c.1806C>G (p.Arg602=)
c.1221C>G (p.Arg407=)
c.1932C>G (p.Arg644=)
c.1158C>G (p.Arg386=)
c.1125C>G (p.Arg375=)
n.2159C>G
c.1338C>G (p.Arg446=)
n.2153C>G
Xg.53250740G=CA2429775630IQSEC2c.1995C= (p.Arg665=)
c.1836C= (p.Arg612=)
c.1806C= (p.Arg602=)
c.1221C= (p.Arg407=)
c.1932C= (p.Arg644=)
c.1158C= (p.Arg386=)
c.1125C= (p.Arg375=)
n.2159C=
c.1338C= (p.Arg446=)
n.2153C=
Xg.53250740G>TCA516674123IQSEC2c.1995C>A (p.Arg665=)
c.1836C>A (p.Arg612=)
c.1806C>A (p.Arg602=)
c.1221C>A (p.Arg407=)
c.1932C>A (p.Arg644=)
c.1158C>A (p.Arg386=)
c.1125C>A (p.Arg375=)
n.2159C>A
c.1338C>A (p.Arg446=)
n.2153C>A
Xg.53250741C>ACA413163298IQSEC2c.1994G>T (p.Arg665Leu)
c.1835G>T (p.Arg612Leu)
c.1805G>T (p.Arg602Leu)
c.1220G>T (p.Arg407Leu)
c.1931G>T (p.Arg644Leu)
c.1157G>T (p.Arg386Leu)
c.1124G>T (p.Arg375Leu)
n.2158G>T
c.1337G>T (p.Arg446Leu)
n.2152G>T
Xg.53250741C=CA2429775631IQSEC2c.1994G= (p.Arg665=)
c.1835G= (p.Arg612=)
c.1805G= (p.Arg602=)
c.1220G= (p.Arg407=)
c.1931G= (p.Arg644=)
c.1157G= (p.Arg386=)
c.1124G= (p.Arg375=)
n.2158G=
c.1337G= (p.Arg446=)
n.2152G=
Xg.53250741C>GCA413163306IQSEC2c.1994G>C (p.Arg665Pro)
c.1835G>C (p.Arg612Pro)
c.1805G>C (p.Arg602Pro)
c.1220G>C (p.Arg407Pro)
c.1931G>C (p.Arg644Pro)
c.1157G>C (p.Arg386Pro)
c.1124G>C (p.Arg375Pro)
n.2158G>C
c.1337G>C (p.Arg446Pro)
n.2152G>C
Xg.53250741C>TCA413163309IQSEC2c.1994G>A (p.Arg665His)
c.1835G>A (p.Arg612His)
c.1805G>A (p.Arg602His)
c.1220G>A (p.Arg407His)
c.1931G>A (p.Arg644His)
c.1157G>A (p.Arg386His)
c.1124G>A (p.Arg375His)
n.2158G>A
c.1337G>A (p.Arg446His)
n.2152G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
Xg.53250742G>ACA413163312IQSEC2c.1993C>T (p.Arg665Cys)
c.1834C>T (p.Arg612Cys)
c.1804C>T (p.Arg602Cys)
c.1219C>T (p.Arg407Cys)
c.1930C>T (p.Arg644Cys)
c.1156C>T (p.Arg386Cys)
c.1123C>T (p.Arg375Cys)
n.2157C>T
c.1336C>T (p.Arg446Cys)
n.2151C>T
 dbSNP gnomAD v4 COSMIC COSMIC COSMIC
Xg.53250742G>CCA413163314IQSEC2c.1993C>G (p.Arg665Gly)
c.1834C>G (p.Arg612Gly)
c.1804C>G (p.Arg602Gly)
c.1219C>G (p.Arg407Gly)
c.1930C>G (p.Arg644Gly)
c.1156C>G (p.Arg386Gly)
c.1123C>G (p.Arg375Gly)
n.2157C>G
c.1336C>G (p.Arg446Gly)
n.2151C>G
Xg.53250742G=CA2429775632IQSEC2c.1993C= (p.Arg665=)
c.1834C= (p.Arg612=)
c.1804C= (p.Arg602=)
c.1219C= (p.Arg407=)
c.1930C= (p.Arg644=)
c.1156C= (p.Arg386=)
c.1123C= (p.Arg375=)
n.2157C=
c.1336C= (p.Arg446=)
n.2151C=
Xg.53250742G>TCA413163315IQSEC2c.1993C>A (p.Arg665Ser)
c.1834C>A (p.Arg612Ser)
c.1804C>A (p.Arg602Ser)
c.1219C>A (p.Arg407Ser)
c.1930C>A (p.Arg644Ser)
c.1156C>A (p.Arg386Ser)
c.1123C>A (p.Arg375Ser)
n.2157C>A
c.1336C>A (p.Arg446Ser)
n.2151C>A
Xg.53250743A>CCA413163318IQSEC2c.1992T>G (p.Asp664Glu)
c.1833T>G (p.Asp611Glu)
c.1803T>G (p.Asp601Glu)
c.1218T>G (p.Asp406Glu)
c.1929T>G (p.Asp643Glu)
c.1155T>G (p.Asp385Glu)
c.1122T>G (p.Asp374Glu)
n.2156T>G
c.1335T>G (p.Asp445Glu)
n.2150T>G
Xg.53250743A>GCA516674124IQSEC2c.1992T>C (p.Asp664=)
c.1833T>C (p.Asp611=)
c.1803T>C (p.Asp601=)
c.1218T>C (p.Asp406=)
c.1929T>C (p.Asp643=)
c.1155T>C (p.Asp385=)
c.1122T>C (p.Asp374=)
n.2156T>C
c.1335T>C (p.Asp445=)
n.2150T>C
Xg.53250743A>TCA413163321IQSEC2c.1992T>A (p.Asp664Glu)
c.1833T>A (p.Asp611Glu)
c.1803T>A (p.Asp601Glu)
c.1218T>A (p.Asp406Glu)
c.1929T>A (p.Asp643Glu)
c.1155T>A (p.Asp385Glu)
c.1122T>A (p.Asp374Glu)
n.2156T>A
c.1335T>A (p.Asp445Glu)
n.2150T>A
Xg.53250744T>ACA413163323IQSEC2c.1991A>T (p.Asp664Val)
c.1832A>T (p.Asp611Val)
c.1802A>T (p.Asp601Val)
c.1217A>T (p.Asp406Val)
c.1928A>T (p.Asp643Val)
c.1154A>T (p.Asp385Val)
c.1121A>T (p.Asp374Val)
n.2155A>T
c.1334A>T (p.Asp445Val)
n.2149A>T
Xg.53250744T>CCA413163326IQSEC2c.1991A>G (p.Asp664Gly)
c.1832A>G (p.Asp611Gly)
c.1802A>G (p.Asp601Gly)
c.1217A>G (p.Asp406Gly)
c.1928A>G (p.Asp643Gly)
c.1154A>G (p.Asp385Gly)
c.1121A>G (p.Asp374Gly)
n.2155A>G
c.1334A>G (p.Asp445Gly)
n.2149A>G
Xg.53250744T>GCA413163328IQSEC2c.1991A>C (p.Asp664Ala)
c.1832A>C (p.Asp611Ala)
c.1802A>C (p.Asp601Ala)
c.1217A>C (p.Asp406Ala)
c.1928A>C (p.Asp643Ala)
c.1154A>C (p.Asp385Ala)
c.1121A>C (p.Asp374Ala)
n.2155A>C
c.1334A>C (p.Asp445Ala)
n.2149A>C
Xg.53250745C>ACA413163339IQSEC2c.1990G>T (p.Asp664Tyr)
c.1831G>T (p.Asp611Tyr)
c.1801G>T (p.Asp601Tyr)
c.1216G>T (p.Asp406Tyr)
c.1927G>T (p.Asp643Tyr)
c.1153G>T (p.Asp385Tyr)
c.1120G>T (p.Asp374Tyr)
n.2154G>T
c.1333G>T (p.Asp445Tyr)
n.2148G>T
Xg.53250745C>GCA413163338IQSEC2c.1990G>C (p.Asp664His)
c.1831G>C (p.Asp611His)
c.1801G>C (p.Asp601His)
c.1216G>C (p.Asp406His)
c.1927G>C (p.Asp643His)
c.1153G>C (p.Asp385His)
c.1120G>C (p.Asp374His)
n.2154G>C
c.1333G>C (p.Asp445His)
n.2148G>C
Xg.53250745C>TCA413163337IQSEC2c.1990G>A (p.Asp664Asn)
c.1831G>A (p.Asp611Asn)
c.1801G>A (p.Asp601Asn)
c.1216G>A (p.Asp406Asn)
c.1927G>A (p.Asp643Asn)
c.1153G>A (p.Asp385Asn)
c.1120G>A (p.Asp374Asn)
n.2154G>A
c.1333G>A (p.Asp445Asn)
n.2148G>A
Xg.53250746T>ACA516674125IQSEC2c.1989A>T (p.Ser663=)
c.1830A>T (p.Ser610=)
c.1800A>T (p.Ser600=)
c.1215A>T (p.Ser405=)
c.1926A>T (p.Ser642=)
c.1152A>T (p.Ser384=)
c.1119A>T (p.Ser373=)
n.2153A>T
c.1332A>T (p.Ser444=)
n.2147A>T
Xg.53250746T>CCA516674127IQSEC2c.1989A>G (p.Ser663=)
c.1830A>G (p.Ser610=)
c.1800A>G (p.Ser600=)
c.1215A>G (p.Ser405=)
c.1926A>G (p.Ser642=)
c.1152A>G (p.Ser384=)
c.1119A>G (p.Ser373=)
n.2153A>G
c.1332A>G (p.Ser444=)
n.2147A>G
Xg.53250746T>GCA516674128IQSEC2c.1989A>C (p.Ser663=)
c.1830A>C (p.Ser610=)
c.1800A>C (p.Ser600=)
c.1215A>C (p.Ser405=)
c.1926A>C (p.Ser642=)
c.1152A>C (p.Ser384=)
c.1119A>C (p.Ser373=)
n.2153A>C
c.1332A>C (p.Ser444=)
n.2147A>C
Xg.53250747G>ACA413163340IQSEC2c.1988C>T (p.Ser663Leu)
c.1829C>T (p.Ser610Leu)
c.1799C>T (p.Ser600Leu)
c.1214C>T (p.Ser405Leu)
c.1925C>T (p.Ser642Leu)
c.1151C>T (p.Ser384Leu)
c.1118C>T (p.Ser373Leu)
n.2152C>T
c.1331C>T (p.Ser444Leu)
n.2146C>T
Xg.53250747G>CCA413163341IQSEC2c.1988C>G (p.Ser663Ter)
c.1829C>G (p.Ser610Ter)
c.1799C>G (p.Ser600Ter)
c.1214C>G (p.Ser405Ter)
c.1925C>G (p.Ser642Ter)
c.1151C>G (p.Ser384Ter)
c.1118C>G (p.Ser373Ter)
n.2152C>G
c.1331C>G (p.Ser444Ter)
n.2146C>G
Xg.53250747G>TCA413163342IQSEC2c.1988C>A (p.Ser663Ter)
c.1829C>A (p.Ser610Ter)
c.1799C>A (p.Ser600Ter)
c.1214C>A (p.Ser405Ter)
c.1925C>A (p.Ser642Ter)
c.1151C>A (p.Ser384Ter)
c.1118C>A (p.Ser373Ter)
n.2152C>A
c.1331C>A (p.Ser444Ter)
n.2146C>A
Xg.53250748A>CCA413163344IQSEC2c.1987T>G (p.Ser663Ala)
c.1828T>G (p.Ser610Ala)
c.1798T>G (p.Ser600Ala)
c.1213T>G (p.Ser405Ala)
c.1924T>G (p.Ser642Ala)
c.1150T>G (p.Ser384Ala)
c.1117T>G (p.Ser373Ala)
n.2151T>G
c.1330T>G (p.Ser444Ala)
n.2145T>G
Xg.53250748A>GCA413163346IQSEC2c.1987T>C (p.Ser663Pro)
c.1828T>C (p.Ser610Pro)
c.1798T>C (p.Ser600Pro)
c.1213T>C (p.Ser405Pro)
c.1924T>C (p.Ser642Pro)
c.1150T>C (p.Ser384Pro)
c.1117T>C (p.Ser373Pro)
n.2151T>C
c.1330T>C (p.Ser444Pro)
n.2145T>C
Xg.53250748A>TCA413163347IQSEC2c.1987T>A (p.Ser663Thr)
c.1828T>A (p.Ser610Thr)
c.1798T>A (p.Ser600Thr)
c.1213T>A (p.Ser405Thr)
c.1924T>A (p.Ser642Thr)
c.1150T>A (p.Ser384Thr)
c.1117T>A (p.Ser373Thr)
n.2151T>A
c.1330T>A (p.Ser444Thr)
n.2145T>A
Xg.53250749G>ACA516674129IQSEC2c.1986C>T (p.Arg662=)
c.1827C>T (p.Arg609=)
c.1797C>T (p.Arg599=)
c.1212C>T (p.Arg404=)
c.1923C>T (p.Arg641=)
c.1149C>T (p.Arg383=)
c.1116C>T (p.Arg372=)
n.2150C>T
c.1329C>T (p.Arg443=)
n.2144C>T
Xg.53250749G>CCA516674131IQSEC2c.1986C>G (p.Arg662=)
c.1827C>G (p.Arg609=)
c.1797C>G (p.Arg599=)
c.1212C>G (p.Arg404=)
c.1923C>G (p.Arg641=)
c.1149C>G (p.Arg383=)
c.1116C>G (p.Arg372=)
n.2150C>G
c.1329C>G (p.Arg443=)
n.2144C>G
Xg.53250749G>TCA516674133IQSEC2c.1986C>A (p.Arg662=)
c.1827C>A (p.Arg609=)
c.1797C>A (p.Arg599=)
c.1212C>A (p.Arg404=)
c.1923C>A (p.Arg641=)
c.1149C>A (p.Arg383=)
c.1116C>A (p.Arg372=)
n.2150C>A
c.1329C>A (p.Arg443=)
n.2144C>A
Xg.53250750C>ACA413163355IQSEC2c.1985G>T (p.Arg662Leu)
c.1826G>T (p.Arg609Leu)
c.1796G>T (p.Arg599Leu)
c.1211G>T (p.Arg404Leu)
c.1922G>T (p.Arg641Leu)
c.1148G>T (p.Arg383Leu)
c.1115G>T (p.Arg372Leu)
n.2149G>T
c.1328G>T (p.Arg443Leu)
n.2143G>T
 gnomAD v4
Xg.53250750C=CA2429775633IQSEC2c.1985G= (p.Arg662=)
c.1826G= (p.Arg609=)
c.1796G= (p.Arg599=)
c.1211G= (p.Arg404=)
c.1922G= (p.Arg641=)
c.1148G= (p.Arg383=)
c.1115G= (p.Arg372=)
n.2149G=
c.1328G= (p.Arg443=)
n.2143G=
Xg.53250750C>GCA413163350IQSEC2c.1985G>C (p.Arg662Pro)
c.1826G>C (p.Arg609Pro)
c.1796G>C (p.Arg599Pro)
c.1211G>C (p.Arg404Pro)
c.1922G>C (p.Arg641Pro)
c.1148G>C (p.Arg383Pro)
c.1115G>C (p.Arg372Pro)
n.2149G>C
c.1328G>C (p.Arg443Pro)
n.2143G>C
Xg.53250750C>TCA413163352IQSEC2c.1985G>A (p.Arg662His)
c.1826G>A (p.Arg609His)
c.1796G>A (p.Arg599His)
c.1211G>A (p.Arg404His)
c.1922G>A (p.Arg641His)
c.1148G>A (p.Arg383His)
c.1115G>A (p.Arg372His)
n.2149G>A
c.1328G>A (p.Arg443His)
n.2143G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
Xg.53250751G>ACA413163358IQSEC2c.1984C>T (p.Arg662Cys)
c.1825C>T (p.Arg609Cys)
c.1795C>T (p.Arg599Cys)
c.1210C>T (p.Arg404Cys)
c.1921C>T (p.Arg641Cys)
c.1147C>T (p.Arg383Cys)
c.1114C>T (p.Arg372Cys)
n.2148C>T
c.1327C>T (p.Arg443Cys)
n.2142C>T
 ClinVar dbSNP gnomAD v4
Xg.53250751G>CCA413163361IQSEC2c.1984C>G (p.Arg662Gly)
c.1825C>G (p.Arg609Gly)
c.1795C>G (p.Arg599Gly)
c.1210C>G (p.Arg404Gly)
c.1921C>G (p.Arg641Gly)
c.1147C>G (p.Arg383Gly)
c.1114C>G (p.Arg372Gly)
n.2148C>G
c.1327C>G (p.Arg443Gly)
n.2142C>G
Xg.53250751G=CA2429775634IQSEC2c.1984C= (p.Arg662=)
c.1825C= (p.Arg609=)
c.1795C= (p.Arg599=)
c.1210C= (p.Arg404=)
c.1921C= (p.Arg641=)
c.1147C= (p.Arg383=)
c.1114C= (p.Arg372=)
n.2148C=
c.1327C= (p.Arg443=)
n.2142C=
Xg.53250751G>TCA413163363IQSEC2c.1984C>A (p.Arg662Ser)
c.1825C>A (p.Arg609Ser)
c.1795C>A (p.Arg599Ser)
c.1210C>A (p.Arg404Ser)
c.1921C>A (p.Arg641Ser)
c.1147C>A (p.Arg383Ser)
c.1114C>A (p.Arg372Ser)
n.2148C>A
c.1327C>A (p.Arg443Ser)
n.2142C>A
Xg.53250752G>ACA516674136IQSEC2c.1983C>T (p.Asp661=)
c.1824C>T (p.Asp608=)
c.1794C>T (p.Asp598=)
c.1209C>T (p.Asp403=)
c.1920C>T (p.Asp640=)
c.1146C>T (p.Asp382=)
c.1113C>T (p.Asp371=)
n.2147C>T
c.1326C>T (p.Asp442=)
n.2141C>T
Xg.53250752G>CCA413163367IQSEC2c.1983C>G (p.Asp661Glu)
c.1824C>G (p.Asp608Glu)
c.1794C>G (p.Asp598Glu)
c.1209C>G (p.Asp403Glu)
c.1920C>G (p.Asp640Glu)
c.1146C>G (p.Asp382Glu)
c.1113C>G (p.Asp371Glu)
n.2147C>G
c.1326C>G (p.Asp442Glu)
n.2141C>G
Xg.53250752G>TCA413163368IQSEC2c.1983C>A (p.Asp661Glu)
c.1824C>A (p.Asp608Glu)
c.1794C>A (p.Asp598Glu)
c.1209C>A (p.Asp403Glu)
c.1920C>A (p.Asp640Glu)
c.1146C>A (p.Asp382Glu)
c.1113C>A (p.Asp371Glu)
n.2147C>A
c.1326C>A (p.Asp442Glu)
n.2141C>A
Xg.53250753T>ACA413163372IQSEC2c.1982A>T (p.Asp661Val)
c.1823A>T (p.Asp608Val)
c.1793A>T (p.Asp598Val)
c.1208A>T (p.Asp403Val)
c.1919A>T (p.Asp640Val)
c.1145A>T (p.Asp382Val)
c.1112A>T (p.Asp371Val)
n.2146A>T
c.1325A>T (p.Asp442Val)
n.2140A>T
Xg.53250753T>CCA413163378IQSEC2c.1982A>G (p.Asp661Gly)
c.1823A>G (p.Asp608Gly)
c.1793A>G (p.Asp598Gly)
c.1208A>G (p.Asp403Gly)
c.1919A>G (p.Asp640Gly)
c.1145A>G (p.Asp382Gly)
c.1112A>G (p.Asp371Gly)
n.2146A>G
c.1325A>G (p.Asp442Gly)
n.2140A>G
Xg.53250753T>GCA413163375IQSEC2c.1982A>C (p.Asp661Ala)
c.1823A>C (p.Asp608Ala)
c.1793A>C (p.Asp598Ala)
c.1208A>C (p.Asp403Ala)
c.1919A>C (p.Asp640Ala)
c.1145A>C (p.Asp382Ala)
c.1112A>C (p.Asp371Ala)
n.2146A>C
c.1325A>C (p.Asp442Ala)
n.2140A>C
Xg.53250754C>ACA413163382IQSEC2c.1981G>T (p.Asp661Tyr)
c.1822G>T (p.Asp608Tyr)
c.1792G>T (p.Asp598Tyr)
c.1207G>T (p.Asp403Tyr)
c.1918G>T (p.Asp640Tyr)
c.1144G>T (p.Asp382Tyr)
c.1111G>T (p.Asp371Tyr)
n.2145G>T
c.1324G>T (p.Asp442Tyr)
n.2139G>T
Xg.53250754C>GCA413163389IQSEC2c.1981G>C (p.Asp661His)
c.1822G>C (p.Asp608His)
c.1792G>C (p.Asp598His)
c.1207G>C (p.Asp403His)
c.1918G>C (p.Asp640His)
c.1144G>C (p.Asp382His)
c.1111G>C (p.Asp371His)
n.2145G>C
c.1324G>C (p.Asp442His)
n.2139G>C
Xg.53250754C>TCA413163392IQSEC2c.1981G>A (p.Asp661Asn)
c.1822G>A (p.Asp608Asn)
c.1792G>A (p.Asp598Asn)
c.1207G>A (p.Asp403Asn)
c.1918G>A (p.Asp640Asn)
c.1144G>A (p.Asp382Asn)
c.1111G>A (p.Asp371Asn)
n.2145G>A
c.1324G>A (p.Asp442Asn)
n.2139G>A
Xg.53250755A>CCA413163396IQSEC2c.1980T>G (p.Ser660Arg)
c.1821T>G (p.Ser607Arg)
c.1791T>G (p.Ser597Arg)
c.1206T>G (p.Ser402Arg)
c.1917T>G (p.Ser639Arg)
c.1143T>G (p.Ser381Arg)
c.1110T>G (p.Ser370Arg)
n.2144T>G
c.1323T>G (p.Ser441Arg)
n.2138T>G
Xg.53250755A>GCA516674145IQSEC2c.1980T>C (p.Ser660=)
c.1821T>C (p.Ser607=)
c.1791T>C (p.Ser597=)
c.1206T>C (p.Ser402=)
c.1917T>C (p.Ser639=)
c.1143T>C (p.Ser381=)
c.1110T>C (p.Ser370=)
n.2144T>C
c.1323T>C (p.Ser441=)
n.2138T>C
Xg.53250755A>TCA413163400IQSEC2c.1980T>A (p.Ser660Arg)
c.1821T>A (p.Ser607Arg)
c.1791T>A (p.Ser597Arg)
c.1206T>A (p.Ser402Arg)
c.1917T>A (p.Ser639Arg)
c.1143T>A (p.Ser381Arg)
c.1110T>A (p.Ser370Arg)
n.2144T>A
c.1323T>A (p.Ser441Arg)
n.2138T>A
Xg.53250756C>ACA413163405IQSEC2c.1979G>T (p.Ser660Ile)
c.1820G>T (p.Ser607Ile)
c.1790G>T (p.Ser597Ile)
c.1205G>T (p.Ser402Ile)
c.1916G>T (p.Ser639Ile)
c.1142G>T (p.Ser381Ile)
c.1109G>T (p.Ser370Ile)
n.2143G>T
c.1322G>T (p.Ser441Ile)
n.2137G>T
Xg.53250756C>GCA413163409IQSEC2c.1979G>C (p.Ser660Thr)
c.1820G>C (p.Ser607Thr)
c.1790G>C (p.Ser597Thr)
c.1205G>C (p.Ser402Thr)
c.1916G>C (p.Ser639Thr)
c.1142G>C (p.Ser381Thr)
c.1109G>C (p.Ser370Thr)
n.2143G>C
c.1322G>C (p.Ser441Thr)
n.2137G>C
Xg.53250756C>TCA413163413IQSEC2c.1979G>A (p.Ser660Asn)
c.1820G>A (p.Ser607Asn)
c.1790G>A (p.Ser597Asn)
c.1205G>A (p.Ser402Asn)
c.1916G>A (p.Ser639Asn)
c.1142G>A (p.Ser381Asn)
c.1109G>A (p.Ser370Asn)
n.2143G>A
c.1322G>A (p.Ser441Asn)
n.2137G>A
Xg.53250757T>ACA413163417IQSEC2c.1978A>T (p.Ser660Cys)
c.1819A>T (p.Ser607Cys)
c.1789A>T (p.Ser597Cys)
c.1204A>T (p.Ser402Cys)
c.1915A>T (p.Ser639Cys)
c.1141A>T (p.Ser381Cys)
c.1108A>T (p.Ser370Cys)
n.2142A>T
c.1321A>T (p.Ser441Cys)
n.2136A>T
Xg.53250757T>CCA413163420IQSEC2c.1978A>G (p.Ser660Gly)
c.1819A>G (p.Ser607Gly)
c.1789A>G (p.Ser597Gly)
c.1204A>G (p.Ser402Gly)
c.1915A>G (p.Ser639Gly)
c.1141A>G (p.Ser381Gly)
c.1108A>G (p.Ser370Gly)
n.2142A>G
c.1321A>G (p.Ser441Gly)
n.2136A>G
Xg.53250757T>GCA413163424IQSEC2c.1978A>C (p.Ser660Arg)
c.1819A>C (p.Ser607Arg)
c.1789A>C (p.Ser597Arg)
c.1204A>C (p.Ser402Arg)
c.1915A>C (p.Ser639Arg)
c.1141A>C (p.Ser381Arg)
c.1108A>C (p.Ser370Arg)
n.2142A>C
c.1321A>C (p.Ser441Arg)
n.2136A>C
 ClinVar
Xg.53250758C>ACA516674149IQSEC2c.1977G>T (p.Leu659=)
c.1818G>T (p.Leu606=)
c.1788G>T (p.Leu596=)
c.1203G>T (p.Leu401=)
c.1914G>T (p.Leu638=)
c.1140G>T (p.Leu380=)
c.1107G>T (p.Leu369=)
n.2141G>T
c.1320G>T (p.Leu440=)
n.2135G>T
Xg.53250758C=CA2429775635IQSEC2c.1977G= (p.Leu659=)
c.1818G= (p.Leu606=)
c.1788G= (p.Leu596=)
c.1203G= (p.Leu401=)
c.1914G= (p.Leu638=)
c.1140G= (p.Leu380=)
c.1107G= (p.Leu369=)
n.2141G=
c.1320G= (p.Leu440=)
n.2135G=
Xg.53250758C>GCA516674150IQSEC2c.1977G>C (p.Leu659=)
c.1818G>C (p.Leu606=)
c.1788G>C (p.Leu596=)
c.1203G>C (p.Leu401=)
c.1914G>C (p.Leu638=)
c.1140G>C (p.Leu380=)
c.1107G>C (p.Leu369=)
n.2141G>C
c.1320G>C (p.Leu440=)
n.2135G>C
Xg.53250758C>TCA516674151IQSEC2c.1977G>A (p.Leu659=)
c.1818G>A (p.Leu606=)
c.1788G>A (p.Leu596=)
c.1203G>A (p.Leu401=)
c.1914G>A (p.Leu638=)
c.1140G>A (p.Leu380=)
c.1107G>A (p.Leu369=)
n.2141G>A
c.1320G>A (p.Leu440=)
n.2135G>A
 dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched