Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.60853153T>ACA371325161CHD7c.6428T>A (p.Leu2143Ter)
c.1717-9076T>A (n.1717-9076T>A)
c.6518T>A (p.Leu2173Ter)
c.4505T>A (p.Leu1502Ter)
c.4055T>A (p.Leu1352Ter)
c.3263T>A (p.Leu1088Ter)
8g.60853153T>CCA371325162CHD7c.6428T>C (p.Leu2143Ser)
c.1717-9076T>C (n.1717-9076T>C)
c.6518T>C (p.Leu2173Ser)
c.4505T>C (p.Leu1502Ser)
c.4055T>C (p.Leu1352Ser)
c.3263T>C (p.Leu1088Ser)
8g.60853153T>GCA371325163CHD7c.6428T>G (p.Leu2143Trp)
c.1717-9076T>G (n.1717-9076T>G)
c.6518T>G (p.Leu2173Trp)
c.4505T>G (p.Leu1502Trp)
c.4055T>G (p.Leu1352Trp)
c.3263T>G (p.Leu1088Trp)
8g.60853154G>ACA461105410CHD7c.6429G>A (p.Leu2143=)
c.1717-9075G>A (n.1717-9075G>A)
c.6519G>A (p.Leu2173=)
c.4506G>A (p.Leu1502=)
c.4056G>A (p.Leu1352=)
c.3264G>A (p.Leu1088=)
 dbSNP gnomAD v2
8g.60853154G>CCA371325165CHD7c.6429G>C (p.Leu2143Phe)
c.1717-9075G>C (n.1717-9075G>C)
c.6519G>C (p.Leu2173Phe)
c.4506G>C (p.Leu1502Phe)
c.4056G>C (p.Leu1352Phe)
c.3264G>C (p.Leu1088Phe)
8g.60853154G=CA1788103833CHD7c.6429G= (p.Leu2143=)
c.1717-9075G= (n.1717-9075G=)
c.6519G= (p.Leu2173=)
c.4506G= (p.Leu1502=)
c.4056G= (p.Leu1352=)
c.3264G= (p.Leu1088=)
8g.60853154G>TCA371325167CHD7c.6429G>T (p.Leu2143Phe)
c.1717-9075G>T (n.1717-9075G>T)
c.6519G>T (p.Leu2173Phe)
c.4506G>T (p.Leu1502Phe)
c.4056G>T (p.Leu1352Phe)
c.3264G>T (p.Leu1088Phe)
8g.60853155A>CCA371325170CHD7c.6430A>C (p.Asn2144His)
c.1717-9074A>C (n.1717-9074A>C)
c.6520A>C (p.Asn2174His)
c.4507A>C (p.Asn1503His)
c.4057A>C (p.Asn1353His)
c.3265A>C (p.Asn1089His)
8g.60853155A>GCA371325175CHD7c.6430A>G (p.Asn2144Asp)
c.1717-9074A>G (n.1717-9074A>G)
c.6520A>G (p.Asn2174Asp)
c.4507A>G (p.Asn1503Asp)
c.4057A>G (p.Asn1353Asp)
c.3265A>G (p.Asn1089Asp)
8g.60853155A>TCA371325173CHD7c.6430A>T (p.Asn2144Tyr)
c.1717-9074A>T (n.1717-9074A>T)
c.6520A>T (p.Asn2174Tyr)
c.4507A>T (p.Asn1503Tyr)
c.4057A>T (p.Asn1353Tyr)
c.3265A>T (p.Asn1089Tyr)
8g.60853156A=CA1788103840CHD7c.6431A= (p.Asn2144=)
c.1717-9073A= (n.1717-9073A=)
c.6521A= (p.Asn2174=)
c.4508A= (p.Asn1503=)
c.4058A= (p.Asn1353=)
c.3266A= (p.Asn1089=)
8g.60853156A>CCA371325176CHD7c.6431A>C (p.Asn2144Thr)
c.1717-9073A>C (n.1717-9073A>C)
c.6521A>C (p.Asn2174Thr)
c.4508A>C (p.Asn1503Thr)
c.4058A>C (p.Asn1353Thr)
c.3266A>C (p.Asn1089Thr)
 ClinVar
8g.60853156A>GCA371325180CHD7c.6431A>G (p.Asn2144Ser)
c.1717-9073A>G (n.1717-9073A>G)
c.6521A>G (p.Asn2174Ser)
c.4508A>G (p.Asn1503Ser)
c.4058A>G (p.Asn1353Ser)
c.3266A>G (p.Asn1089Ser)
 dbSNP gnomAD v2 gnomAD v4
8g.60853156A>TCA371325178CHD7c.6431A>T (p.Asn2144Ile)
c.1717-9073A>T (n.1717-9073A>T)
c.6521A>T (p.Asn2174Ile)
c.4508A>T (p.Asn1503Ile)
c.4058A>T (p.Asn1353Ile)
c.3266A>T (p.Asn1089Ile)
8g.60853157C>ACA371325183CHD7c.6432C>A (p.Asn2144Lys)
c.1717-9072C>A (n.1717-9072C>A)
c.6522C>A (p.Asn2174Lys)
c.4509C>A (p.Asn1503Lys)
c.4059C>A (p.Asn1353Lys)
c.3267C>A (p.Asn1089Lys)
8g.60853157C=CA1788103843CHD7c.6432C= (p.Asn2144=)
c.1717-9072C= (n.1717-9072C=)
c.6522C= (p.Asn2174=)
c.4509C= (p.Asn1503=)
c.4059C= (p.Asn1353=)
c.3267C= (p.Asn1089=)
8g.60853157C>GCA371325185CHD7c.6432C>G (p.Asn2144Lys)
c.1717-9072C>G (n.1717-9072C>G)
c.6522C>G (p.Asn2174Lys)
c.4509C>G (p.Asn1503Lys)
c.4059C>G (p.Asn1353Lys)
c.3267C>G (p.Asn1089Lys)
8g.60853157C>TCA461105413CHD7c.6432C>T (p.Asn2144=)
c.1717-9072C>T (n.1717-9072C>T)
c.6522C>T (p.Asn2174=)
c.4509C>T (p.Asn1503=)
c.4059C>T (p.Asn1353=)
c.3267C>T (p.Asn1089=)
 dbSNP gnomAD v2
8g.60853158C>ACA371325187CHD7c.6433C>A (p.Pro2145Thr)
c.1717-9071C>A (n.1717-9071C>A)
c.6523C>A (p.Pro2175Thr)
c.4510C>A (p.Pro1504Thr)
c.4060C>A (p.Pro1354Thr)
c.3268C>A (p.Pro1090Thr)
8g.60853158C=CA1788103848CHD7c.6433C= (p.Pro2145=)
c.1717-9071C= (n.1717-9071C=)
c.6523C= (p.Pro2175=)
c.4510C= (p.Pro1504=)
c.4060C= (p.Pro1354=)
c.3268C= (p.Pro1090=)
8g.60853158C>GCA371325191CHD7c.6433C>G (p.Pro2145Ala)
c.1717-9071C>G (n.1717-9071C>G)
c.6523C>G (p.Pro2175Ala)
c.4510C>G (p.Pro1504Ala)
c.4060C>G (p.Pro1354Ala)
c.3268C>G (p.Pro1090Ala)
 dbSNP
8g.60853158C>TCA371325190CHD7c.6433C>T (p.Pro2145Ser)
c.1717-9071C>T (n.1717-9071C>T)
c.6523C>T (p.Pro2175Ser)
c.4510C>T (p.Pro1504Ser)
c.4060C>T (p.Pro1354Ser)
c.3268C>T (p.Pro1090Ser)
 ClinVar
8g.60853159C>ACA371325193CHD7c.6434C>A (p.Pro2145Gln)
c.1717-9070C>A (n.1717-9070C>A)
c.6524C>A (p.Pro2175Gln)
c.4511C>A (p.Pro1504Gln)
c.4061C>A (p.Pro1354Gln)
c.3269C>A (p.Pro1090Gln)
8g.60853159C>GCA371325196CHD7c.6434C>G (p.Pro2145Arg)
c.1717-9070C>G (n.1717-9070C>G)
c.6524C>G (p.Pro2175Arg)
c.4511C>G (p.Pro1504Arg)
c.4061C>G (p.Pro1354Arg)
c.3269C>G (p.Pro1090Arg)
8g.60853159C>TCA371325197CHD7c.6434C>T (p.Pro2145Leu)
c.1717-9070C>T (n.1717-9070C>T)
c.6524C>T (p.Pro2175Leu)
c.4511C>T (p.Pro1504Leu)
c.4061C>T (p.Pro1354Leu)
c.3269C>T (p.Pro1090Leu)
8g.60853160A=CA1788103857CHD7c.6435A= (p.Pro2145=)
c.1717-9069A= (n.1717-9069A=)
c.6525A= (p.Pro2175=)
c.4512A= (p.Pro1504=)
c.4062A= (p.Pro1354=)
c.3270A= (p.Pro1090=)
8g.60853160A>CCA461105420CHD7c.6435A>C (p.Pro2145=)
c.1717-9069A>C (n.1717-9069A>C)
c.6525A>C (p.Pro2175=)
c.4512A>C (p.Pro1504=)
c.4062A>C (p.Pro1354=)
c.3270A>C (p.Pro1090=)
8g.60853160A>GCA461105421CHD7c.6435A>G (p.Pro2145=)
c.1717-9069A>G (n.1717-9069A>G)
c.6525A>G (p.Pro2175=)
c.4512A>G (p.Pro1504=)
c.4062A>G (p.Pro1354=)
c.3270A>G (p.Pro1090=)
 ClinVar dbSNP gnomAD v4
8g.60853160A>TCA461105419CHD7c.6435A>T (p.Pro2145=)
c.1717-9069A>T (n.1717-9069A>T)
c.6525A>T (p.Pro2175=)
c.4512A>T (p.Pro1504=)
c.4062A>T (p.Pro1354=)
c.3270A>T (p.Pro1090=)
8g.60853161C>ACA371325199CHD7c.6436C>A (p.Leu2146Met)
c.1717-9068C>A (n.1717-9068C>A)
c.6526C>A (p.Leu2176Met)
c.4513C>A (p.Leu1505Met)
c.4063C>A (p.Leu1355Met)
c.3271C>A (p.Leu1091Met)
8g.60853161C>GCA371325201CHD7c.6436C>G (p.Leu2146Val)
c.1717-9068C>G (n.1717-9068C>G)
c.6526C>G (p.Leu2176Val)
c.4513C>G (p.Leu1505Val)
c.4063C>G (p.Leu1355Val)
c.3271C>G (p.Leu1091Val)
 gnomAD v4
8g.60853161C>TCA461105422CHD7c.6436C>T (p.Leu2146=)
c.1717-9068C>T (n.1717-9068C>T)
c.6526C>T (p.Leu2176=)
c.4513C>T (p.Leu1505=)
c.4063C>T (p.Leu1355=)
c.3271C>T (p.Leu1091=)
 ClinVar dbSNP
8g.60853162T>ACA371325204CHD7c.6437T>A (p.Leu2146Gln)
c.1717-9067T>A (n.1717-9067T>A)
c.6527T>A (p.Leu2176Gln)
c.4514T>A (p.Leu1505Gln)
c.4064T>A (p.Leu1355Gln)
c.3272T>A (p.Leu1091Gln)
8g.60853162T>CCA243780CHD7c.6437T>C (p.Leu2146Pro)
c.1717-9067T>C (n.1717-9067T>C)
c.6527T>C (p.Leu2176Pro)
c.4514T>C (p.Leu1505Pro)
c.4064T>C (p.Leu1355Pro)
c.3272T>C (p.Leu1091Pro)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.60853162T>GCA371325206CHD7c.6437T>G (p.Leu2146Arg)
c.1717-9067T>G (n.1717-9067T>G)
c.6527T>G (p.Leu2176Arg)
c.4514T>G (p.Leu1505Arg)
c.4064T>G (p.Leu1355Arg)
c.3272T>G (p.Leu1091Arg)
8g.60853162T=CA1788103868CHD7c.6437T= (p.Leu2146=)
c.1717-9067T= (n.1717-9067T=)
c.6527T= (p.Leu2176=)
c.4514T= (p.Leu1505=)
c.4064T= (p.Leu1355=)
c.3272T= (p.Leu1091=)
8g.60853163G>ACA461105426CHD7c.6438G>A (p.Leu2146=)
c.1717-9066G>A (n.1717-9066G>A)
c.6528G>A (p.Leu2176=)
c.4515G>A (p.Leu1505=)
c.4065G>A (p.Leu1355=)
c.3273G>A (p.Leu1091=)
8g.60853163G>CCA461105427CHD7c.6438G>C (p.Leu2146=)
c.1717-9066G>C (n.1717-9066G>C)
c.6528G>C (p.Leu2176=)
c.4515G>C (p.Leu1505=)
c.4065G>C (p.Leu1355=)
c.3273G>C (p.Leu1091=)
 dbSNP
8g.60853163G>TCA461105429CHD7c.6438G>T (p.Leu2146=)
c.1717-9066G>T (n.1717-9066G>T)
c.6528G>T (p.Leu2176=)
c.4515G>T (p.Leu1505=)
c.4065G>T (p.Leu1355=)
c.3273G>T (p.Leu1091=)
8g.60853164G>ACA4760587CHD7c.6439G>A (p.Ala2147Thr)
c.1717-9065G>A (n.1717-9065G>A)
c.6529G>A (p.Ala2177Thr)
c.4516G>A (p.Ala1506Thr)
c.4066G>A (p.Ala1356Thr)
c.3274G>A (p.Ala1092Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60853164G>CCA371325210CHD7c.6439G>C (p.Ala2147Pro)
c.1717-9065G>C (n.1717-9065G>C)
c.6529G>C (p.Ala2177Pro)
c.4516G>C (p.Ala1506Pro)
c.4066G>C (p.Ala1356Pro)
c.3274G>C (p.Ala1092Pro)
8g.60853164G=CA1788103876CHD7c.6439G= (p.Ala2147=)
c.1717-9065G= (n.1717-9065G=)
c.6529G= (p.Ala2177=)
c.4516G= (p.Ala1506=)
c.4066G= (p.Ala1356=)
c.3274G= (p.Ala1092=)
8g.60853164G>TCA371325213CHD7c.6439G>T (p.Ala2147Ser)
c.1717-9065G>T (n.1717-9065G>T)
c.6529G>T (p.Ala2177Ser)
c.4516G>T (p.Ala1506Ser)
c.4066G>T (p.Ala1356Ser)
c.3274G>T (p.Ala1092Ser)
8g.60853165C>ACA371325219CHD7c.6440C>A (p.Ala2147Glu)
c.1717-9064C>A (n.1717-9064C>A)
c.6530C>A (p.Ala2177Glu)
c.4517C>A (p.Ala1506Glu)
c.4067C>A (p.Ala1356Glu)
c.3275C>A (p.Ala1092Glu)
8g.60853165C=CA1788103879CHD7c.6440C= (p.Ala2147=)
c.1717-9064C= (n.1717-9064C=)
c.6530C= (p.Ala2177=)
c.4517C= (p.Ala1506=)
c.4067C= (p.Ala1356=)
c.3275C= (p.Ala1092=)
8g.60853165C>GCA177354113CHD7c.6440C>G (p.Ala2147Gly)
c.1717-9064C>G (n.1717-9064C>G)
c.6530C>G (p.Ala2177Gly)
c.4517C>G (p.Ala1506Gly)
c.4067C>G (p.Ala1356Gly)
c.3275C>G (p.Ala1092Gly)
 ClinVar dbSNP gnomAD v4
8g.60853165C>TCA371325216CHD7c.6440C>T (p.Ala2147Val)
c.1717-9064C>T (n.1717-9064C>T)
c.6530C>T (p.Ala2177Val)
c.4517C>T (p.Ala1506Val)
c.4067C>T (p.Ala1356Val)
c.3275C>T (p.Ala1092Val)
 dbSNP
8g.60853166A>CCA461105432CHD7c.6441A>C (p.Ala2147=)
c.1717-9063A>C (n.1717-9063A>C)
c.6531A>C (p.Ala2177=)
c.4518A>C (p.Ala1506=)
c.4068A>C (p.Ala1356=)
c.3276A>C (p.Ala1092=)
8g.60853166A>GCA461105435CHD7c.6441A>G (p.Ala2147=)
c.1717-9063A>G (n.1717-9063A>G)
c.6531A>G (p.Ala2177=)
c.4518A>G (p.Ala1506=)
c.4068A>G (p.Ala1356=)
c.3276A>G (p.Ala1092=)
8g.60853166A>TCA461105437CHD7c.6441A>T (p.Ala2147=)
c.1717-9063A>T (n.1717-9063A>T)
c.6531A>T (p.Ala2177=)
c.4518A>T (p.Ala1506=)
c.4068A>T (p.Ala1356=)
c.3276A>T (p.Ala1092=)
8g.60853167G>ACA371325220CHD7c.6442G>A (p.Val2148Ile)
c.1717-9062G>A (n.1717-9062G>A)
c.6532G>A (p.Val2178Ile)
c.4519G>A (p.Val1507Ile)
c.4069G>A (p.Val1357Ile)
c.3277G>A (p.Val1093Ile)
8g.60853167G>CCA371325222CHD7c.6442G>C (p.Val2148Leu)
c.1717-9062G>C (n.1717-9062G>C)
c.6532G>C (p.Val2178Leu)
c.4519G>C (p.Val1507Leu)
c.4069G>C (p.Val1357Leu)
c.3277G>C (p.Val1093Leu)
8g.60853167G>TCA371325223CHD7c.6442G>T (p.Val2148Phe)
c.1717-9062G>T (n.1717-9062G>T)
c.6532G>T (p.Val2178Phe)
c.4519G>T (p.Val1507Phe)
c.4069G>T (p.Val1357Phe)
c.3277G>T (p.Val1093Phe)
8g.60853168T>ACA371325225CHD7c.6443T>A (p.Val2148Asp)
c.1717-9061T>A (n.1717-9061T>A)
c.6533T>A (p.Val2178Asp)
c.4520T>A (p.Val1507Asp)
c.4070T>A (p.Val1357Asp)
c.3278T>A (p.Val1093Asp)
8g.60853168T>CCA371325227CHD7c.6443T>C (p.Val2148Ala)
c.1717-9061T>C (n.1717-9061T>C)
c.6533T>C (p.Val2178Ala)
c.4520T>C (p.Val1507Ala)
c.4070T>C (p.Val1357Ala)
c.3278T>C (p.Val1093Ala)
8g.60853168T>GCA371325229CHD7c.6443T>G (p.Val2148Gly)
c.1717-9061T>G (n.1717-9061T>G)
c.6533T>G (p.Val2178Gly)
c.4520T>G (p.Val1507Gly)
c.4070T>G (p.Val1357Gly)
c.3278T>G (p.Val1093Gly)
8g.60853169T>ACA461105439CHD7c.6444T>A (p.Val2148=)
c.1717-9060T>A (n.1717-9060T>A)
c.6534T>A (p.Val2178=)
c.4521T>A (p.Val1507=)
c.4071T>A (p.Val1357=)
c.3279T>A (p.Val1093=)
8g.60853169T>CCA461105441CHD7c.6444T>C (p.Val2148=)
c.1717-9060T>C (n.1717-9060T>C)
c.6534T>C (p.Val2178=)
c.4521T>C (p.Val1507=)
c.4071T>C (p.Val1357=)
c.3279T>C (p.Val1093=)
8g.60853169T>GCA461105442CHD7c.6444T>G (p.Val2148=)
c.1717-9060T>G (n.1717-9060T>G)
c.6534T>G (p.Val2178=)
c.4521T>G (p.Val1507=)
c.4071T>G (p.Val1357=)
c.3279T>G (p.Val1093=)
8g.60853169_60853170delinsTGCA1788103888CHD7c.6444_6445delinsTG (p.Val2148=)
c.1717-9060_1717-9059delinsTG (n.1717-9060_1717-9059delinsTG)
c.6534_6535delinsTG (p.Val2178=)
c.4521_4522delinsTG (p.Val1507=)
c.4071_4072delinsTG (p.Val1357=)
c.3279_3280delinsTG (p.Val1093=)
8g.60853170G>ACA371325232CHD7c.6445G>A (p.Gly2149Arg)
c.1717-9059G>A (n.1717-9059G>A)
c.6535G>A (p.Gly2179Arg)
c.4522G>A (p.Gly1508Arg)
c.4072G>A (p.Gly1358Arg)
c.3280G>A (p.Gly1094Arg)
8g.60853170G>CCA371325234CHD7c.6445G>C (p.Gly2149Arg)
c.1717-9059G>C (n.1717-9059G>C)
c.6535G>C (p.Gly2179Arg)
c.4522G>C (p.Gly1508Arg)
c.4072G>C (p.Gly1358Arg)
c.3280G>C (p.Gly1094Arg)
8g.60853170G>TCA371325235CHD7c.6445G>T (p.Gly2149Ter)
c.1717-9059G>T (n.1717-9059G>T)
c.6535G>T (p.Gly2179Ter)
c.4522G>T (p.Gly1508Ter)
c.4072G>T (p.Gly1358Ter)
c.3280G>T (p.Gly1094Ter)
8g.60853171delCA277207CHD7c.6446del (p.Gly2149AspfsTer?)
c.1717-9058del (n.1717-9058del)
c.6536del (p.Gly2179AspfsTer?)
c.4523del (p.Gly1508AspfsTer?)
c.4073del (p.Gly1358AspfsTer?)
c.3281del (p.Gly1094AspfsTer?)
 ClinVar dbSNP
8g.60853171G>ACA371325237CHD7c.6446G>A (p.Gly2149Glu)
c.1717-9058G>A (n.1717-9058G>A)
c.6536G>A (p.Gly2179Glu)
c.4523G>A (p.Gly1508Glu)
c.4073G>A (p.Gly1358Glu)
c.3281G>A (p.Gly1094Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.60853171G>CCA371325239CHD7c.6446G>C (p.Gly2149Ala)
c.1717-9058G>C (n.1717-9058G>C)
c.6536G>C (p.Gly2179Ala)
c.4523G>C (p.Gly1508Ala)
c.4073G>C (p.Gly1358Ala)
c.3281G>C (p.Gly1094Ala)
8g.60853171G=CA1788103908CHD7c.6446G= (p.Gly2149=)
c.1717-9058G= (n.1717-9058G=)
c.6536G= (p.Gly2179=)
c.4523G= (p.Gly1508=)
c.4073G= (p.Gly1358=)
c.3281G= (p.Gly1094=)
8g.60853171G>TCA4760588CHD7c.6446G>T (p.Gly2149Val)
c.1717-9058G>T (n.1717-9058G>T)
c.6536G>T (p.Gly2179Val)
c.4523G>T (p.Gly1508Val)
c.4073G>T (p.Gly1358Val)
c.3281G>T (p.Gly1094Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60853172A>CCA461105448CHD7c.6447A>C (p.Gly2149=)
c.1717-9057A>C (n.1717-9057A>C)
c.6537A>C (p.Gly2179=)
c.4524A>C (p.Gly1508=)
c.4074A>C (p.Gly1358=)
c.3282A>C (p.Gly1094=)
8g.60853172A>GCA461105449CHD7c.6447A>G (p.Gly2149=)
c.1717-9057A>G (n.1717-9057A>G)
c.6537A>G (p.Gly2179=)
c.4524A>G (p.Gly1508=)
c.4074A>G (p.Gly1358=)
c.3282A>G (p.Gly1094=)
8g.60853172A>TCA461105451CHD7c.6447A>T (p.Gly2149=)
c.1717-9057A>T (n.1717-9057A>T)
c.6537A>T (p.Gly2179=)
c.4524A>T (p.Gly1508=)
c.4074A>T (p.Gly1358=)
c.3282A>T (p.Gly1094=)
8g.60853173T>ACA371325241CHD7c.6448T>A (p.Phe2150Ile)
c.1717-9056T>A (n.1717-9056T>A)
c.6538T>A (p.Phe2180Ile)
c.4525T>A (p.Phe1509Ile)
c.4075T>A (p.Phe1359Ile)
c.3283T>A (p.Phe1095Ile)
8g.60853173T>CCA371325243CHD7c.6448T>C (p.Phe2150Leu)
c.1717-9056T>C (n.1717-9056T>C)
c.6538T>C (p.Phe2180Leu)
c.4525T>C (p.Phe1509Leu)
c.4075T>C (p.Phe1359Leu)
c.3283T>C (p.Phe1095Leu)
8g.60853173T>GCA371325245CHD7c.6448T>G (p.Phe2150Val)
c.1717-9056T>G (n.1717-9056T>G)
c.6538T>G (p.Phe2180Val)
c.4525T>G (p.Phe1509Val)
c.4075T>G (p.Phe1359Val)
c.3283T>G (p.Phe1095Val)
8g.60853175delCA2739289517CHD7c.6450del (p.Phe2150LeufsTer?)
c.1717-9054del (n.1717-9054del)
c.6540del (p.Phe2180LeufsTer?)
c.4527del (p.Phe1509LeufsTer?)
c.4077del (p.Phe1359LeufsTer?)
c.3285del (p.Phe1095LeufsTer?)
8g.60853174T>ACA371325249CHD7c.6449T>A (p.Phe2150Tyr)
c.1717-9055T>A (n.1717-9055T>A)
c.6539T>A (p.Phe2180Tyr)
c.4526T>A (p.Phe1509Tyr)
c.4076T>A (p.Phe1359Tyr)
c.3284T>A (p.Phe1095Tyr)
8g.60853174T>CCA371325250CHD7c.6449T>C (p.Phe2150Ser)
c.1717-9055T>C (n.1717-9055T>C)
c.6539T>C (p.Phe2180Ser)
c.4526T>C (p.Phe1509Ser)
c.4076T>C (p.Phe1359Ser)
c.3284T>C (p.Phe1095Ser)
8g.60853174T>GCA371325252CHD7c.6449T>G (p.Phe2150Cys)
c.1717-9055T>G (n.1717-9055T>G)
c.6539T>G (p.Phe2180Cys)
c.4526T>G (p.Phe1509Cys)
c.4076T>G (p.Phe1359Cys)
c.3284T>G (p.Phe1095Cys)
8g.60853175T>ACA371325254CHD7c.6450T>A (p.Phe2150Leu)
c.1717-9054T>A (n.1717-9054T>A)
c.6540T>A (p.Phe2180Leu)
c.4527T>A (p.Phe1509Leu)
c.4077T>A (p.Phe1359Leu)
c.3285T>A (p.Phe1095Leu)
 ClinVar
8g.60853175T>CCA461105453CHD7c.6450T>C (p.Phe2150=)
c.1717-9054T>C (n.1717-9054T>C)
c.6540T>C (p.Phe2180=)
c.4527T>C (p.Phe1509=)
c.4077T>C (p.Phe1359=)
c.3285T>C (p.Phe1095=)
8g.60853175T>GCA371325256CHD7c.6450T>G (p.Phe2150Leu)
c.1717-9054T>G (n.1717-9054T>G)
c.6540T>G (p.Phe2180Leu)
c.4527T>G (p.Phe1509Leu)
c.4077T>G (p.Phe1359Leu)
c.3285T>G (p.Phe1095Leu)
8g.60853176G>ACA371325259CHD7c.6451G>A (p.Val2151Ile)
c.1717-9053G>A (n.1717-9053G>A)
c.6541G>A (p.Val2181Ile)
c.4528G>A (p.Val1510Ile)
c.4078G>A (p.Val1360Ile)
c.3286G>A (p.Val1096Ile)
 dbSNP
8g.60853176G>CCA371325260CHD7c.6451G>C (p.Val2151Leu)
c.1717-9053G>C (n.1717-9053G>C)
c.6541G>C (p.Val2181Leu)
c.4528G>C (p.Val1510Leu)
c.4078G>C (p.Val1360Leu)
c.3286G>C (p.Val1096Leu)
8g.60853176G=CA1788103916CHD7c.6451G= (p.Val2151=)
c.1717-9053G= (n.1717-9053G=)
c.6541G= (p.Val2181=)
c.4528G= (p.Val1510=)
c.4078G= (p.Val1360=)
c.3286G= (p.Val1096=)
8g.60853176G>TCA371325263CHD7c.6451G>T (p.Val2151Phe)
c.1717-9053G>T (n.1717-9053G>T)
c.6541G>T (p.Val2181Phe)
c.4528G>T (p.Val1510Phe)
c.4078G>T (p.Val1360Phe)
c.3286G>T (p.Val1096Phe)
8g.60853177T>ACA371325269CHD7c.6452T>A (p.Val2151Asp)
c.1717-9052T>A (n.1717-9052T>A)
c.6542T>A (p.Val2181Asp)
c.4529T>A (p.Val1510Asp)
c.4079T>A (p.Val1360Asp)
c.3287T>A (p.Val1096Asp)
8g.60853177T>CCA371325268CHD7c.6452T>C (p.Val2151Ala)
c.1717-9052T>C (n.1717-9052T>C)
c.6542T>C (p.Val2181Ala)
c.4529T>C (p.Val1510Ala)
c.4079T>C (p.Val1360Ala)
c.3287T>C (p.Val1096Ala)
 gnomAD v4
8g.60853177T>GCA371325265CHD7c.6452T>G (p.Val2151Gly)
c.1717-9052T>G (n.1717-9052T>G)
c.6542T>G (p.Val2181Gly)
c.4529T>G (p.Val1510Gly)
c.4079T>G (p.Val1360Gly)
c.3287T>G (p.Val1096Gly)
8g.60853178C>ACA461105461CHD7c.6453C>A (p.Val2151=)
c.1717-9051C>A (n.1717-9051C>A)
c.6543C>A (p.Val2181=)
c.4530C>A (p.Val1510=)
c.4080C>A (p.Val1360=)
c.3288C>A (p.Val1096=)
8g.60853178C=CA1788103921CHD7c.6453C= (p.Val2151=)
c.1717-9051C= (n.1717-9051C=)
c.6543C= (p.Val2181=)
c.4530C= (p.Val1510=)
c.4080C= (p.Val1360=)
c.3288C= (p.Val1096=)
8g.60853178C>GCA4760590CHD7c.6453C>G (p.Val2151=)
c.1717-9051C>G (n.1717-9051C>G)
c.6543C>G (p.Val2181=)
c.4530C>G (p.Val1510=)
c.4080C>G (p.Val1360=)
c.3288C>G (p.Val1096=)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.60853178C>TCA4760589CHD7c.6453C>T (p.Val2151=)
c.1717-9051C>T (n.1717-9051C>T)
c.6543C>T (p.Val2181=)
c.4530C>T (p.Val1510=)
c.4080C>T (p.Val1360=)
c.3288C>T (p.Val1096=)
 dbSNP ExAC gnomAD v2 COSMIC
8g.60853179C>ACA371325274CHD7c.6454C>A (p.Gln2152Lys)
c.1717-9050C>A (n.1717-9050C>A)
c.6544C>A (p.Gln2182Lys)
c.4531C>A (p.Gln1511Lys)
c.4081C>A (p.Gln1361Lys)
c.3289C>A (p.Gln1097Lys)
8g.60853179C=CA1788103927CHD7c.6454C= (p.Gln2152=)
c.1717-9050C= (n.1717-9050C=)
c.6544C= (p.Gln2182=)
c.4531C= (p.Gln1511=)
c.4081C= (p.Gln1361=)
c.3289C= (p.Gln1097=)
8g.60853179C>GCA4760591CHD7c.6454C>G (p.Gln2152Glu)
c.1717-9050C>G (n.1717-9050C>G)
c.6544C>G (p.Gln2182Glu)
c.4531C>G (p.Gln1511Glu)
c.4081C>G (p.Gln1361Glu)
c.3289C>G (p.Gln1097Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60853179C>TCA371325277CHD7c.6454C>T (p.Gln2152Ter)
c.1717-9050C>T (n.1717-9050C>T)
c.6544C>T (p.Gln2182Ter)
c.4531C>T (p.Gln1511Ter)
c.4081C>T (p.Gln1361Ter)
c.3289C>T (p.Gln1097Ter)
 ClinVar dbSNP
8g.60853180A>CCA371325279CHD7c.6455A>C (p.Gln2152Pro)
c.1717-9049A>C (n.1717-9049A>C)
c.6545A>C (p.Gln2182Pro)
c.4532A>C (p.Gln1511Pro)
c.4082A>C (p.Gln1361Pro)
c.3290A>C (p.Gln1097Pro)
8g.60853180A>GCA371325282CHD7c.6455A>G (p.Gln2152Arg)
c.1717-9049A>G (n.1717-9049A>G)
c.6545A>G (p.Gln2182Arg)
c.4532A>G (p.Gln1511Arg)
c.4082A>G (p.Gln1361Arg)
c.3290A>G (p.Gln1097Arg)
8g.60853180A>TCA371325283CHD7c.6455A>T (p.Gln2152Leu)
c.1717-9049A>T (n.1717-9049A>T)
c.6545A>T (p.Gln2182Leu)
c.4532A>T (p.Gln1511Leu)
c.4082A>T (p.Gln1361Leu)
c.3290A>T (p.Gln1097Leu)
8g.60853181G>ACA461105043CHD7c.6456G>A (p.Gln2152=)
c.1717-9048G>A (n.1717-9048G>A)
c.6546G>A (p.Gln2182=)
c.4533G>A (p.Gln1511=)
c.4083G>A (p.Gln1361=)
c.3291G>A (p.Gln1097=)
8g.60853181G>CCA4760592CHD7c.6456G>C (p.Gln2152His)
c.1717-9048G>C (n.1717-9048G>C)
c.6546G>C (p.Gln2182His)
c.4533G>C (p.Gln1511His)
c.4083G>C (p.Gln1361His)
c.3291G>C (p.Gln1097His)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.60853181G=CA1788103953CHD7c.6456G= (p.Gln2152=)
c.1717-9048G= (n.1717-9048G=)
c.6546G= (p.Gln2182=)
c.4533G= (p.Gln1511=)
c.4083G= (p.Gln1361=)
c.3291G= (p.Gln1097=)
8g.60853181G>TCA371325287CHD7c.6456G>T (p.Gln2152His)
c.1717-9048G>T (n.1717-9048G>T)
c.6546G>T (p.Gln2182His)
c.4533G>T (p.Gln1511His)
c.4083G>T (p.Gln1361His)
c.3291G>T (p.Gln1097His)
 ClinVar gnomAD v4
8g.60853182A=CA1788103973CHD7c.6457A= (p.Thr2153=)
c.1717-9047A= (n.1717-9047A=)
c.6547A= (p.Thr2183=)
c.4534A= (p.Thr1512=)
c.4084A= (p.Thr1362=)
c.3292A= (p.Thr1098=)
8g.60853182A>CCA371325291CHD7c.6457A>C (p.Thr2153Pro)
c.1717-9047A>C (n.1717-9047A>C)
c.6547A>C (p.Thr2183Pro)
c.4534A>C (p.Thr1512Pro)
c.4084A>C (p.Thr1362Pro)
c.3292A>C (p.Thr1098Pro)
8g.60853182A>GCA371325293CHD7c.6457A>G (p.Thr2153Ala)
c.1717-9047A>G (n.1717-9047A>G)
c.6547A>G (p.Thr2183Ala)
c.4534A>G (p.Thr1512Ala)
c.4084A>G (p.Thr1362Ala)
c.3292A>G (p.Thr1098Ala)
 dbSNP
8g.60853182A>TCA371325294CHD7c.6457A>T (p.Thr2153Ser)
c.1717-9047A>T (n.1717-9047A>T)
c.6547A>T (p.Thr2183Ser)
c.4534A>T (p.Thr1512Ser)
c.4084A>T (p.Thr1362Ser)
c.3292A>T (p.Thr1098Ser)
8g.60853183C>ACA371325298CHD7c.6458C>A (p.Thr2153Asn)
c.1717-9046C>A (n.1717-9046C>A)
c.6548C>A (p.Thr2183Asn)
c.4535C>A (p.Thr1512Asn)
c.4085C>A (p.Thr1362Asn)
c.3293C>A (p.Thr1098Asn)
8g.60853183C>GCA371325301CHD7c.6458C>G (p.Thr2153Ser)
c.1717-9046C>G (n.1717-9046C>G)
c.6548C>G (p.Thr2183Ser)
c.4535C>G (p.Thr1512Ser)
c.4085C>G (p.Thr1362Ser)
c.3293C>G (p.Thr1098Ser)
8g.60853183C>TCA371325296CHD7c.6458C>T (p.Thr2153Ile)
c.1717-9046C>T (n.1717-9046C>T)
c.6548C>T (p.Thr2183Ile)
c.4535C>T (p.Thr1512Ile)
c.4085C>T (p.Thr1362Ile)
c.3293C>T (p.Thr1098Ile)
8g.60853184T>ACA461105044CHD7c.6459T>A (p.Thr2153=)
c.1717-9045T>A (n.1717-9045T>A)
c.6549T>A (p.Thr2183=)
c.4536T>A (p.Thr1512=)
c.4086T>A (p.Thr1362=)
c.3294T>A (p.Thr1098=)
8g.60853184T>CCA461105045CHD7c.6459T>C (p.Thr2153=)
c.1717-9045T>C (n.1717-9045T>C)
c.6549T>C (p.Thr2183=)
c.4536T>C (p.Thr1512=)
c.4086T>C (p.Thr1362=)
c.3294T>C (p.Thr1098=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.60853184T>GCA461105046CHD7c.6459T>G (p.Thr2153=)
c.1717-9045T>G (n.1717-9045T>G)
c.6549T>G (p.Thr2183=)
c.4536T>G (p.Thr1512=)
c.4086T>G (p.Thr1362=)
c.3294T>G (p.Thr1098=)
 gnomAD v4
8g.60853184T=CA1788103977CHD7c.6459T= (p.Thr2153=)
c.1717-9045T= (n.1717-9045T=)
c.6549T= (p.Thr2183=)
c.4536T= (p.Thr1512=)
c.4086T= (p.Thr1362=)
c.3294T= (p.Thr1098=)
8g.60853185C>ACA371325303CHD7c.6460C>A (p.Pro2154Thr)
c.1717-9044C>A (n.1717-9044C>A)
c.6550C>A (p.Pro2184Thr)
c.4537C>A (p.Pro1513Thr)
c.4087C>A (p.Pro1363Thr)
c.3295C>A (p.Pro1099Thr)
8g.60853185C>GCA371325305CHD7c.6460C>G (p.Pro2154Ala)
c.1717-9044C>G (n.1717-9044C>G)
c.6550C>G (p.Pro2184Ala)
c.4537C>G (p.Pro1513Ala)
c.4087C>G (p.Pro1363Ala)
c.3295C>G (p.Pro1099Ala)
8g.60853185C>TCA371325308CHD7c.6460C>T (p.Pro2154Ser)
c.1717-9044C>T (n.1717-9044C>T)
c.6550C>T (p.Pro2184Ser)
c.4537C>T (p.Pro1513Ser)
c.4087C>T (p.Pro1363Ser)
c.3295C>T (p.Pro1099Ser)
8g.60853186delCA2695209424CHD7c.6461del (p.Pro2154LeufsTer?)
c.1717-9043del (n.1717-9043del)
c.6551del (p.Pro2184LeufsTer?)
c.4538del (p.Pro1513LeufsTer?)
c.4088del (p.Pro1363LeufsTer?)
c.3296del (p.Pro1099LeufsTer?)
8g.60853186C>ACA371325310CHD7c.6461C>A (p.Pro2154His)
c.1717-9043C>A (n.1717-9043C>A)
c.6551C>A (p.Pro2184His)
c.4538C>A (p.Pro1513His)
c.4088C>A (p.Pro1363His)
c.3296C>A (p.Pro1099His)
8g.60853186C=CA1788103984CHD7c.6461C= (p.Pro2154=)
c.1717-9043C= (n.1717-9043C=)
c.6551C= (p.Pro2184=)
c.4538C= (p.Pro1513=)
c.4088C= (p.Pro1363=)
c.3296C= (p.Pro1099=)
8g.60853186C>GCA371325312CHD7c.6461C>G (p.Pro2154Arg)
c.1717-9043C>G (n.1717-9043C>G)
c.6551C>G (p.Pro2184Arg)
c.4538C>G (p.Pro1513Arg)
c.4088C>G (p.Pro1363Arg)
c.3296C>G (p.Pro1099Arg)
8g.60853186C>TCA371325314CHD7c.6461C>T (p.Pro2154Leu)
c.1717-9043C>T (n.1717-9043C>T)
c.6551C>T (p.Pro2184Leu)
c.4538C>T (p.Pro1513Leu)
c.4088C>T (p.Pro1363Leu)
c.3296C>T (p.Pro1099Leu)
 ClinVar dbSNP
8g.60853186delinsTTCA2695209425CHD7c.6461delinsTT (p.Pro2154LeufsTer12)
c.1717-9043delinsTT (n.1717-9043delinsTT)
c.6551delinsTT (p.Pro2184LeufsTer12)
c.4538delinsTT (p.Pro1513LeufsTer12)
c.4088delinsTT (p.Pro1363LeufsTer12)
c.3296delinsTT (p.Pro1099LeufsTer12)
8g.60853187T>ACA461105047CHD7c.6462T>A (p.Pro2154=)
c.1717-9042T>A (n.1717-9042T>A)
c.6552T>A (p.Pro2184=)
c.4539T>A (p.Pro1513=)
c.4089T>A (p.Pro1363=)
c.3297T>A (p.Pro1099=)
 gnomAD v4
8g.60853187T>CCA461105048CHD7c.6462T>C (p.Pro2154=)
c.1717-9042T>C (n.1717-9042T>C)
c.6552T>C (p.Pro2184=)
c.4539T>C (p.Pro1513=)
c.4089T>C (p.Pro1363=)
c.3297T>C (p.Pro1099=)
8g.60853187T>GCA461105049CHD7c.6462T>G (p.Pro2154=)
c.1717-9042T>G (n.1717-9042T>G)
c.6552T>G (p.Pro2184=)
c.4539T>G (p.Pro1513=)
c.4089T>G (p.Pro1363=)
c.3297T>G (p.Pro1099=)
8g.60853188C>ACA371325315CHD7c.6463C>A (p.Pro2155Thr)
c.1717-9041C>A (n.1717-9041C>A)
c.6553C>A (p.Pro2185Thr)
c.4540C>A (p.Pro1514Thr)
c.4090C>A (p.Pro1364Thr)
c.3298C>A (p.Pro1100Thr)
8g.60853188C=CA1788103993CHD7c.6463C= (p.Pro2155=)
c.1717-9041C= (n.1717-9041C=)
c.6553C= (p.Pro2185=)
c.4540C= (p.Pro1514=)
c.4090C= (p.Pro1364=)
c.3298C= (p.Pro1100=)
8g.60853188C>GCA371325317CHD7c.6463C>G (p.Pro2155Ala)
c.1717-9041C>G (n.1717-9041C>G)
c.6553C>G (p.Pro2185Ala)
c.4540C>G (p.Pro1514Ala)
c.4090C>G (p.Pro1364Ala)
c.3298C>G (p.Pro1100Ala)
8g.60853188C>TCA371325318CHD7c.6463C>T (p.Pro2155Ser)
c.1717-9041C>T (n.1717-9041C>T)
c.6553C>T (p.Pro2185Ser)
c.4540C>T (p.Pro1514Ser)
c.4090C>T (p.Pro1364Ser)
c.3298C>T (p.Pro1100Ser)
 ClinVar dbSNP
8g.60853189C>ACA371325320CHD7c.6464C>A (p.Pro2155Gln)
c.1717-9040C>A (n.1717-9040C>A)
c.6554C>A (p.Pro2185Gln)
c.4541C>A (p.Pro1514Gln)
c.4091C>A (p.Pro1364Gln)
c.3299C>A (p.Pro1100Gln)
8g.60853189C=CA1788103998CHD7c.6464C= (p.Pro2155=)
c.1717-9040C= (n.1717-9040C=)
c.6554C= (p.Pro2185=)
c.4541C= (p.Pro1514=)
c.4091C= (p.Pro1364=)
c.3299C= (p.Pro1100=)
8g.60853189C>GCA371325322CHD7c.6464C>G (p.Pro2155Arg)
c.1717-9040C>G (n.1717-9040C>G)
c.6554C>G (p.Pro2185Arg)
c.4541C>G (p.Pro1514Arg)
c.4091C>G (p.Pro1364Arg)
c.3299C>G (p.Pro1100Arg)
8g.60853189C>TCA4760593CHD7c.6464C>T (p.Pro2155Leu)
c.1717-9040C>T (n.1717-9040C>T)
c.6554C>T (p.Pro2185Leu)
c.4541C>T (p.Pro1514Leu)
c.4091C>T (p.Pro1364Leu)
c.3299C>T (p.Pro1100Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.60853190A>CCA461105052CHD7c.6465A>C (p.Pro2155=)
c.1717-9039A>C (n.1717-9039A>C)
c.6555A>C (p.Pro2185=)
c.4542A>C (p.Pro1514=)
c.4092A>C (p.Pro1364=)
c.3300A>C (p.Pro1100=)
8g.60853190A>GCA461105051CHD7c.6465A>G (p.Pro2155=)
c.1717-9039A>G (n.1717-9039A>G)
c.6555A>G (p.Pro2185=)
c.4542A>G (p.Pro1514=)
c.4092A>G (p.Pro1364=)
c.3300A>G (p.Pro1100=)
8g.60853190A>TCA461105050CHD7c.6465A>T (p.Pro2155=)
c.1717-9039A>T (n.1717-9039A>T)
c.6555A>T (p.Pro2185=)
c.4542A>T (p.Pro1514=)
c.4092A>T (p.Pro1364=)
c.3300A>T (p.Pro1100=)
8g.60853191G>ACA371325328CHD7c.6466G>A (p.Val2156Ile)
c.1717-9038G>A (n.1717-9038G>A)
c.6556G>A (p.Val2186Ile)
c.4543G>A (p.Val1515Ile)
c.4093G>A (p.Val1365Ile)
c.3301G>A (p.Val1101Ile)
 ClinVar
8g.60853191G>CCA371325325CHD7c.6466G>C (p.Val2156Leu)
c.1717-9038G>C (n.1717-9038G>C)
c.6556G>C (p.Val2186Leu)
c.4543G>C (p.Val1515Leu)
c.4093G>C (p.Val1365Leu)
c.3301G>C (p.Val1101Leu)
8g.60853191G>TCA371325324CHD7c.6466G>T (p.Val2156Phe)
c.1717-9038G>T (n.1717-9038G>T)
c.6556G>T (p.Val2186Phe)
c.4543G>T (p.Val1515Phe)
c.4093G>T (p.Val1365Phe)
c.3301G>T (p.Val1101Phe)
 gnomAD v4
8g.60853192T>ACA371325330CHD7c.6467T>A (p.Val2156Asp)
c.1717-9037T>A (n.1717-9037T>A)
c.6557T>A (p.Val2186Asp)
c.4544T>A (p.Val1515Asp)
c.4094T>A (p.Val1365Asp)
c.3302T>A (p.Val1101Asp)
8g.60853192T>CCA371325334CHD7c.6467T>C (p.Val2156Ala)
c.1717-9037T>C (n.1717-9037T>C)
c.6557T>C (p.Val2186Ala)
c.4544T>C (p.Val1515Ala)
c.4094T>C (p.Val1365Ala)
c.3302T>C (p.Val1101Ala)
8g.60853192T>GCA371325336CHD7c.6467T>G (p.Val2156Gly)
c.1717-9037T>G (n.1717-9037T>G)
c.6557T>G (p.Val2186Gly)
c.4544T>G (p.Val1515Gly)
c.4094T>G (p.Val1365Gly)
c.3302T>G (p.Val1101Gly)
8g.60853193C>ACA461105053CHD7c.6468C>A (p.Val2156=)
c.1717-9036C>A (n.1717-9036C>A)
c.6558C>A (p.Val2186=)
c.4545C>A (p.Val1515=)
c.4095C>A (p.Val1365=)
c.3303C>A (p.Val1101=)
 gnomAD v4
8g.60853193C=CA1788104007CHD7c.6468C= (p.Val2156=)
c.1717-9036C= (n.1717-9036C=)
c.6558C= (p.Val2186=)
c.4545C= (p.Val1515=)
c.4095C= (p.Val1365=)
c.3303C= (p.Val1101=)
8g.60853193C>GCA461105054CHD7c.6468C>G (p.Val2156=)
c.1717-9036C>G (n.1717-9036C>G)
c.6558C>G (p.Val2186=)
c.4545C>G (p.Val1515=)
c.4095C>G (p.Val1365=)
c.3303C>G (p.Val1101=)
 ClinVar gnomAD v4
8g.60853193C>TCA4760594CHD7c.6468C>T (p.Val2156=)
c.1717-9036C>T (n.1717-9036C>T)
c.6558C>T (p.Val2186=)
c.4545C>T (p.Val1515=)
c.4095C>T (p.Val1365=)
c.3303C>T (p.Val1101=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60853194A=CA1788104014CHD7c.6469A= (p.Ile2157=)
c.1717-9035A= (n.1717-9035A=)
c.6559A= (p.Ile2187=)
c.4546A= (p.Ile1516=)
c.4096A= (p.Ile1366=)
c.3304A= (p.Ile1102=)
8g.60853194A>CCA371325340CHD7c.6469A>C (p.Ile2157Leu)
c.1717-9035A>C (n.1717-9035A>C)
c.6559A>C (p.Ile2187Leu)
c.4546A>C (p.Ile1516Leu)
c.4096A>C (p.Ile1366Leu)
c.3304A>C (p.Ile1102Leu)
8g.60853194A>GCA10631416CHD7c.6469A>G (p.Ile2157Val)
c.1717-9035A>G (n.1717-9035A>G)
c.6559A>G (p.Ile2187Val)
c.4546A>G (p.Ile1516Val)
c.4096A>G (p.Ile1366Val)
c.3304A>G (p.Ile1102Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.60853194A>TCA371325343CHD7c.6469A>T (p.Ile2157Phe)
c.1717-9035A>T (n.1717-9035A>T)
c.6559A>T (p.Ile2187Phe)
c.4546A>T (p.Ile1516Phe)
c.4096A>T (p.Ile1366Phe)
c.3304A>T (p.Ile1102Phe)
8g.60853195T>ACA371325345CHD7c.6470T>A (p.Ile2157Asn)
c.1717-9034T>A (n.1717-9034T>A)
c.6560T>A (p.Ile2187Asn)
c.4547T>A (p.Ile1516Asn)
c.4097T>A (p.Ile1366Asn)
c.3305T>A (p.Ile1102Asn)
8g.60853195T>CCA371325347CHD7c.6470T>C (p.Ile2157Thr)
c.1717-9034T>C (n.1717-9034T>C)
c.6560T>C (p.Ile2187Thr)
c.4547T>C (p.Ile1516Thr)
c.4097T>C (p.Ile1366Thr)
c.3305T>C (p.Ile1102Thr)
 dbSNP gnomAD v4
8g.60853195T>GCA371325349CHD7c.6470T>G (p.Ile2157Ser)
c.1717-9034T>G (n.1717-9034T>G)
c.6560T>G (p.Ile2187Ser)
c.4547T>G (p.Ile1516Ser)
c.4097T>G (p.Ile1366Ser)
c.3305T>G (p.Ile1102Ser)
8g.60853195T=CA1788104033CHD7c.6470T= (p.Ile2157=)
c.1717-9034T= (n.1717-9034T=)
c.6560T= (p.Ile2187=)
c.4547T= (p.Ile1516=)
c.4097T= (p.Ile1366=)
c.3305T= (p.Ile1102=)
8g.60853196C>ACA461105055CHD7c.6471C>A (p.Ile2157=)
c.1717-9033C>A (n.1717-9033C>A)
c.6561C>A (p.Ile2187=)
c.4548C>A (p.Ile1516=)
c.4098C>A (p.Ile1366=)
c.3306C>A (p.Ile1102=)
8g.60853196C=CA1788104038CHD7c.6471C= (p.Ile2157=)
c.1717-9033C= (n.1717-9033C=)
c.6561C= (p.Ile2187=)
c.4548C= (p.Ile1516=)
c.4098C= (p.Ile1366=)
c.3306C= (p.Ile1102=)
8g.60853196C>GCA371325351CHD7c.6471C>G (p.Ile2157Met)
c.1717-9033C>G (n.1717-9033C>G)
c.6561C>G (p.Ile2187Met)
c.4548C>G (p.Ile1516Met)
c.4098C>G (p.Ile1366Met)
c.3306C>G (p.Ile1102Met)
 gnomAD v4
8g.60853196C>TCA461105056CHD7c.6471C>T (p.Ile2157=)
c.1717-9033C>T (n.1717-9033C>T)
c.6561C>T (p.Ile2187=)
c.4548C>T (p.Ile1516=)
c.4098C>T (p.Ile1366=)
c.3306C>T (p.Ile1102=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.60853197T>ACA371325354CHD7c.6472T>A (p.Ser2158Thr)
c.1717-9032T>A (n.1717-9032T>A)
c.6562T>A (p.Ser2188Thr)
c.4549T>A (p.Ser1517Thr)
c.4099T>A (p.Ser1367Thr)
c.3307T>A (p.Ser1103Thr)
8g.60853197T>CCA371325357CHD7c.6472T>C (p.Ser2158Pro)
c.1717-9032T>C (n.1717-9032T>C)
c.6562T>C (p.Ser2188Pro)
c.4549T>C (p.Ser1517Pro)
c.4099T>C (p.Ser1367Pro)
c.3307T>C (p.Ser1103Pro)
 dbSNP gnomAD v3 gnomAD v4
8g.60853197T>GCA371325359CHD7c.6472T>G (p.Ser2158Ala)
c.1717-9032T>G (n.1717-9032T>G)
c.6562T>G (p.Ser2188Ala)
c.4549T>G (p.Ser1517Ala)
c.4099T>G (p.Ser1367Ala)
c.3307T>G (p.Ser1103Ala)
8g.60853197T=CA1788104043CHD7c.6472T= (p.Ser2158=)
c.1717-9032T= (n.1717-9032T=)
c.6562T= (p.Ser2188=)
c.4549T= (p.Ser1517=)
c.4099T= (p.Ser1367=)
c.3307T= (p.Ser1103=)
8g.60853197_60853198delinsTCCA1788104045CHD7c.6472_6473delinsTC (p.Ser2158=)
c.1717-9032_1717-9031delinsTC (n.1717-9032_1717-9031delinsTC)
c.6562_6563delinsTC (p.Ser2188=)
c.4549_4550delinsTC (p.Ser1517=)
c.4099_4100delinsTC (p.Ser1367=)
c.3307_3308delinsTC (p.Ser1103=)
8g.60853198delCA891843138CHD7c.6473del (p.Ser2158TyrfsTer?)
c.1717-9031del (n.1717-9031del)
c.6563del (p.Ser2188TyrfsTer?)
c.4550del (p.Ser1517TyrfsTer?)
c.4100del (p.Ser1367TyrfsTer?)
c.3308del (p.Ser1103TyrfsTer?)
 ClinVar dbSNP
8g.60853198C>ACA371325363CHD7c.6473C>A (p.Ser2158Ter)
c.1717-9031C>A (n.1717-9031C>A)
c.6563C>A (p.Ser2188Ter)
c.4550C>A (p.Ser1517Ter)
c.4100C>A (p.Ser1367Ter)
c.3308C>A (p.Ser1103Ter)
 ClinVar dbSNP
8g.60853198C=CA1788104063CHD7c.6473C= (p.Ser2158=)
c.1717-9031C= (n.1717-9031C=)
c.6563C= (p.Ser2188=)
c.4550C= (p.Ser1517=)
c.4100C= (p.Ser1367=)
c.3308C= (p.Ser1103=)
8g.60853198C>GCA371325365CHD7c.6473C>G (p.Ser2158Ter)
c.1717-9031C>G (n.1717-9031C>G)
c.6563C>G (p.Ser2188Ter)
c.4550C>G (p.Ser1517Ter)
c.4100C>G (p.Ser1367Ter)
c.3308C>G (p.Ser1103Ter)
8g.60853198C>TCA4760595CHD7c.6473C>T (p.Ser2158Leu)
c.1717-9031C>T (n.1717-9031C>T)
c.6563C>T (p.Ser2188Leu)
c.4550C>T (p.Ser1517Leu)
c.4100C>T (p.Ser1367Leu)
c.3308C>T (p.Ser1103Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.60853199A=CA1788104098CHD7c.6474A= (p.Ser2158=)
c.1717-9030A= (n.1717-9030A=)
c.6564A= (p.Ser2188=)
c.4551A= (p.Ser1517=)
c.4101A= (p.Ser1367=)
c.3309A= (p.Ser1103=)
8g.60853199A>CCA461105057CHD7c.6474A>C (p.Ser2158=)
c.1717-9030A>C (n.1717-9030A>C)
c.6564A>C (p.Ser2188=)
c.4551A>C (p.Ser1517=)
c.4101A>C (p.Ser1367=)
c.3309A>C (p.Ser1103=)
8g.60853199A>GCA4760596CHD7c.6474A>G (p.Ser2158=)
c.1717-9030A>G (n.1717-9030A>G)
c.6564A>G (p.Ser2188=)
c.4551A>G (p.Ser1517=)
c.4101A>G (p.Ser1367=)
c.3309A>G (p.Ser1103=)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.60853199A>TCA461105058CHD7c.6474A>T (p.Ser2158=)
c.1717-9030A>T (n.1717-9030A>T)
c.6564A>T (p.Ser2188=)
c.4551A>T (p.Ser1517=)
c.4101A>T (p.Ser1367=)
c.3309A>T (p.Ser1103=)
 dbSNP
8g.60853200T>ACA371325368CHD7c.6475T>A (p.Ser2159Thr)
c.1717-9029T>A (n.1717-9029T>A)
c.6565T>A (p.Ser2189Thr)
c.4552T>A (p.Ser1518Thr)
c.4102T>A (p.Ser1368Thr)
c.3310T>A (p.Ser1104Thr)
8g.60853200T>CCA371325369CHD7c.6475T>C (p.Ser2159Pro)
c.1717-9029T>C (n.1717-9029T>C)
c.6565T>C (p.Ser2189Pro)
c.4552T>C (p.Ser1518Pro)
c.4102T>C (p.Ser1368Pro)
c.3310T>C (p.Ser1104Pro)
 dbSNP gnomAD v2 gnomAD v4
8g.60853200T>GCA371325372CHD7c.6475T>G (p.Ser2159Ala)
c.1717-9029T>G (n.1717-9029T>G)
c.6565T>G (p.Ser2189Ala)
c.4552T>G (p.Ser1518Ala)
c.4102T>G (p.Ser1368Ala)
c.3310T>G (p.Ser1104Ala)
8g.60853200T=CA1788104110CHD7c.6475T= (p.Ser2159=)
c.1717-9029T= (n.1717-9029T=)
c.6565T= (p.Ser2189=)
c.4552T= (p.Ser1518=)
c.4102T= (p.Ser1368=)
c.3310T= (p.Ser1104=)
8g.60853201C>ACA371325374CHD7c.6476C>A (p.Ser2159Tyr)
c.1717-9028C>A (n.1717-9028C>A)
c.6566C>A (p.Ser2189Tyr)
c.4553C>A (p.Ser1518Tyr)
c.4103C>A (p.Ser1368Tyr)
c.3311C>A (p.Ser1104Tyr)
 ClinVar dbSNP
8g.60853201C=CA1788104117CHD7c.6476C= (p.Ser2159=)
c.1717-9028C= (n.1717-9028C=)
c.6566C= (p.Ser2189=)
c.4553C= (p.Ser1518=)
c.4103C= (p.Ser1368=)
c.3311C= (p.Ser1104=)
8g.60853201C>GCA371325377CHD7c.6476C>G (p.Ser2159Cys)
c.1717-9028C>G (n.1717-9028C>G)
c.6566C>G (p.Ser2189Cys)
c.4553C>G (p.Ser1518Cys)
c.4103C>G (p.Ser1368Cys)
c.3311C>G (p.Ser1104Cys)
8g.60853201C>TCA371325378CHD7c.6476C>T (p.Ser2159Phe)
c.1717-9028C>T (n.1717-9028C>T)
c.6566C>T (p.Ser2189Phe)
c.4553C>T (p.Ser1518Phe)
c.4103C>T (p.Ser1368Phe)
c.3311C>T (p.Ser1104Phe)
 dbSNP
8g.60853202T>ACA461105059CHD7c.6477T>A (p.Ser2159=)
c.1717-9027T>A (n.1717-9027T>A)
c.6567T>A (p.Ser2189=)
c.4554T>A (p.Ser1518=)
c.4104T>A (p.Ser1368=)
c.3312T>A (p.Ser1104=)
8g.60853202T>CCA461105060CHD7c.6477T>C (p.Ser2159=)
c.1717-9027T>C (n.1717-9027T>C)
c.6567T>C (p.Ser2189=)
c.4554T>C (p.Ser1518=)
c.4104T>C (p.Ser1368=)
c.3312T>C (p.Ser1104=)
8g.60853202T>GCA461105061CHD7c.6477T>G (p.Ser2159=)
c.1717-9027T>G (n.1717-9027T>G)
c.6567T>G (p.Ser2189=)
c.4554T>G (p.Ser1518=)
c.4104T>G (p.Ser1368=)
c.3312T>G (p.Ser1104=)
8g.60853203G>ACA171759CHD7c.6478G>A (p.Ala2160Thr)
c.1717-9026G>A (n.1717-9026G>A)
c.6568G>A (p.Ala2190Thr)
c.4555G>A (p.Ala1519Thr)
c.4105G>A (p.Ala1369Thr)
c.3313G>A (p.Ala1105Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60853203G>CCA371325382CHD7c.6478G>C (p.Ala2160Pro)
c.1717-9026G>C (n.1717-9026G>C)
c.6568G>C (p.Ala2190Pro)
c.4555G>C (p.Ala1519Pro)
c.4105G>C (p.Ala1369Pro)
c.3313G>C (p.Ala1105Pro)
8g.60853203G=CA1788104129CHD7c.6478G= (p.Ala2160=)
c.1717-9026G= (n.1717-9026G=)
c.6568G= (p.Ala2190=)
c.4555G= (p.Ala1519=)
c.4105G= (p.Ala1369=)
c.3313G= (p.Ala1105=)
8g.60853203G>TCA371325381CHD7c.6478G>T (p.Ala2160Ser)
c.1717-9026G>T (n.1717-9026G>T)
c.6568G>T (p.Ala2190Ser)
c.4555G>T (p.Ala1519Ser)
c.4105G>T (p.Ala1369Ser)
c.3313G>T (p.Ala1105Ser)
8g.60853204C>ACA371325385CHD7c.6479C>A (p.Ala2160Asp)
c.1717-9025C>A (n.1717-9025C>A)
c.6569C>A (p.Ala2190Asp)
c.4556C>A (p.Ala1519Asp)
c.4106C>A (p.Ala1369Asp)
c.3314C>A (p.Ala1105Asp)
8g.60853204C>GCA371325386CHD7c.6479C>G (p.Ala2160Gly)
c.1717-9025C>G (n.1717-9025C>G)
c.6569C>G (p.Ala2190Gly)
c.4556C>G (p.Ala1519Gly)
c.4106C>G (p.Ala1369Gly)
c.3314C>G (p.Ala1105Gly)
 gnomAD v4
8g.60853204C>TCA371325387CHD7c.6479C>T (p.Ala2160Val)
c.1717-9025C>T (n.1717-9025C>T)
c.6569C>T (p.Ala2190Val)
c.4556C>T (p.Ala1519Val)
c.4106C>T (p.Ala1369Val)
c.3314C>T (p.Ala1105Val)
8g.60853205T>ACA461105062CHD7c.6480T>A (p.Ala2160=)
c.1717-9024T>A (n.1717-9024T>A)
c.6570T>A (p.Ala2190=)
c.4557T>A (p.Ala1519=)
c.4107T>A (p.Ala1369=)
c.3315T>A (p.Ala1105=)
 dbSNP gnomAD v2 gnomAD v4
8g.60853205T>CCA461105063CHD7c.6480T>C (p.Ala2160=)
c.1717-9024T>C (n.1717-9024T>C)
c.6570T>C (p.Ala2190=)
c.4557T>C (p.Ala1519=)
c.4107T>C (p.Ala1369=)
c.3315T>C (p.Ala1105=)
8g.60853205T>GCA4760597CHD7c.6480T>G (p.Ala2160=)
c.1717-9024T>G (n.1717-9024T>G)
c.6570T>G (p.Ala2190=)
c.4557T>G (p.Ala1519=)
c.4107T>G (p.Ala1369=)
c.3315T>G (p.Ala1105=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60853205T=CA1788104135CHD7c.6480T= (p.Ala2160=)
c.1717-9024T= (n.1717-9024T=)
c.6570T= (p.Ala2190=)
c.4557T= (p.Ala1519=)
c.4107T= (p.Ala1369=)
c.3315T= (p.Ala1105=)
8g.60853206C>ACA371325388CHD7c.6481C>A (p.His2161Asn)
c.1717-9023C>A (n.1717-9023C>A)
c.6571C>A (p.His2191Asn)
c.4558C>A (p.His1520Asn)
c.4108C>A (p.His1370Asn)
c.3316C>A (p.His1106Asn)
8g.60853206C>GCA371325390CHD7c.6481C>G (p.His2161Asp)
c.1717-9023C>G (n.1717-9023C>G)
c.6571C>G (p.His2191Asp)
c.4558C>G (p.His1520Asp)
c.4108C>G (p.His1370Asp)
c.3316C>G (p.His1106Asp)
8g.60853206C>TCA371325389CHD7c.6481C>T (p.His2161Tyr)
c.1717-9023C>T (n.1717-9023C>T)
c.6571C>T (p.His2191Tyr)
c.4558C>T (p.His1520Tyr)
c.4108C>T (p.His1370Tyr)
c.3316C>T (p.His1106Tyr)
8g.60853207A=CA1788104139CHD7c.6482A= (p.His2161=)
c.1717-9022A= (n.1717-9022A=)
c.6572A= (p.His2191=)
c.4559A= (p.His1520=)
c.4109A= (p.His1370=)
c.3317A= (p.His1106=)
8g.60853207A>CCA371325399CHD7c.6482A>C (p.His2161Pro)
c.1717-9022A>C (n.1717-9022A>C)
c.6572A>C (p.His2191Pro)
c.4559A>C (p.His1520Pro)
c.4109A>C (p.His1370Pro)
c.3317A>C (p.His1106Pro)
8g.60853207A>GCA371325400CHD7c.6482A>G (p.His2161Arg)
c.1717-9022A>G (n.1717-9022A>G)
c.6572A>G (p.His2191Arg)
c.4559A>G (p.His1520Arg)
c.4109A>G (p.His1370Arg)
c.3317A>G (p.His1106Arg)
 dbSNP
8g.60853207A>TCA371325402CHD7c.6482A>T (p.His2161Leu)
c.1717-9022A>T (n.1717-9022A>T)
c.6572A>T (p.His2191Leu)
c.4559A>T (p.His1520Leu)
c.4109A>T (p.His1370Leu)
c.3317A>T (p.His1106Leu)
8g.60853208T>ACA4760598CHD7c.6483T>A (p.His2161Gln)
c.1717-9021T>A (n.1717-9021T>A)
c.6573T>A (p.His2191Gln)
c.4560T>A (p.His1520Gln)
c.4110T>A (p.His1370Gln)
c.3318T>A (p.His1106Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60853208T>CCA461105064CHD7c.6483T>C (p.His2161=)
c.1717-9021T>C (n.1717-9021T>C)
c.6573T>C (p.His2191=)
c.4560T>C (p.His1520=)
c.4110T>C (p.His1370=)
c.3318T>C (p.His1106=)
8g.60853208T>GCA371325406CHD7c.6483T>G (p.His2161Gln)
c.1717-9021T>G (n.1717-9021T>G)
c.6573T>G (p.His2191Gln)
c.4560T>G (p.His1520Gln)
c.4110T>G (p.His1370Gln)
c.3318T>G (p.His1106Gln)
8g.60853208T=CA1788104166CHD7c.6483T= (p.His2161=)
c.1717-9021T= (n.1717-9021T=)
c.6573T= (p.His2191=)
c.4560T= (p.His1520=)
c.4110T= (p.His1370=)
c.3318T= (p.His1106=)
8g.60853209A>CCA371325409CHD7c.6484A>C (p.Ile2162Leu)
c.1717-9020A>C (n.1717-9020A>C)
c.6574A>C (p.Ile2192Leu)
c.4561A>C (p.Ile1521Leu)
c.4111A>C (p.Ile1371Leu)
c.3319A>C (p.Ile1107Leu)
8g.60853209A>GCA371325410CHD7c.6484A>G (p.Ile2162Val)
c.1717-9020A>G (n.1717-9020A>G)
c.6574A>G (p.Ile2192Val)
c.4561A>G (p.Ile1521Val)
c.4111A>G (p.Ile1371Val)
c.3319A>G (p.Ile1107Val)
 gnomAD v4
8g.60853209A>TCA371325413CHD7c.6484A>T (p.Ile2162Phe)
c.1717-9020A>T (n.1717-9020A>T)
c.6574A>T (p.Ile2192Phe)
c.4561A>T (p.Ile1521Phe)
c.4111A>T (p.Ile1371Phe)
c.3319A>T (p.Ile1107Phe)
8g.60853210T>ACA371325415CHD7c.6485T>A (p.Ile2162Asn)
c.1717-9019T>A (n.1717-9019T>A)
c.6575T>A (p.Ile2192Asn)
c.4562T>A (p.Ile1521Asn)
c.4112T>A (p.Ile1371Asn)
c.3320T>A (p.Ile1107Asn)
 gnomAD v4
8g.60853210T>CCA371325417CHD7c.6485T>C (p.Ile2162Thr)
c.1717-9019T>C (n.1717-9019T>C)
c.6575T>C (p.Ile2192Thr)
c.4562T>C (p.Ile1521Thr)
c.4112T>C (p.Ile1371Thr)
c.3320T>C (p.Ile1107Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.60853210T>GCA371325420CHD7c.6485T>G (p.Ile2162Ser)
c.1717-9019T>G (n.1717-9019T>G)
c.6575T>G (p.Ile2192Ser)
c.4562T>G (p.Ile1521Ser)
c.4112T>G (p.Ile1371Ser)
c.3320T>G (p.Ile1107Ser)
 ClinVar
8g.60853210T=CA1788104172CHD7c.6485T= (p.Ile2162=)
c.1717-9019T= (n.1717-9019T=)
c.6575T= (p.Ile2192=)
c.4562T= (p.Ile1521=)
c.4112T= (p.Ile1371=)
c.3320T= (p.Ile1107=)
8g.60853211T>ACA461105065CHD7c.6486T>A (p.Ile2162=)
c.1717-9018T>A (n.1717-9018T>A)
c.6576T>A (p.Ile2192=)
c.4563T>A (p.Ile1521=)
c.4113T>A (p.Ile1371=)
c.3321T>A (p.Ile1107=)
8g.60853211T>CCA461105066CHD7c.6486T>C (p.Ile2162=)
c.1717-9018T>C (n.1717-9018T>C)
c.6576T>C (p.Ile2192=)
c.4563T>C (p.Ile1521=)
c.4113T>C (p.Ile1371=)
c.3321T>C (p.Ile1107=)
8g.60853211T>GCA371325422CHD7c.6486T>G (p.Ile2162Met)
c.1717-9018T>G (n.1717-9018T>G)
c.6576T>G (p.Ile2192Met)
c.4563T>G (p.Ile1521Met)
c.4113T>G (p.Ile1371Met)
c.3321T>G (p.Ile1107Met)
8g.60853212C>ACA371325425CHD7c.6487C>A (p.Gln2163Lys)
c.1717-9017C>A (n.1717-9017C>A)
c.6577C>A (p.Gln2193Lys)
c.4564C>A (p.Gln1522Lys)
c.4114C>A (p.Gln1372Lys)
c.3322C>A (p.Gln1108Lys)
8g.60853212C>GCA371325423CHD7c.6487C>G (p.Gln2163Glu)
c.1717-9017C>G (n.1717-9017C>G)
c.6577C>G (p.Gln2193Glu)
c.4564C>G (p.Gln1522Glu)
c.4114C>G (p.Gln1372Glu)
c.3322C>G (p.Gln1108Glu)
8g.60853212C>TCA371325427CHD7c.6487C>T (p.Gln2163Ter)
c.1717-9017C>T (n.1717-9017C>T)
c.6577C>T (p.Gln2193Ter)
c.4564C>T (p.Gln1522Ter)
c.4114C>T (p.Gln1372Ter)
c.3322C>T (p.Gln1108Ter)
8g.60853213A>CCA371325428CHD7c.6488A>C (p.Gln2163Pro)
c.1717-9016A>C (n.1717-9016A>C)
c.6578A>C (p.Gln2193Pro)
c.4565A>C (p.Gln1522Pro)
c.4115A>C (p.Gln1372Pro)
c.3323A>C (p.Gln1108Pro)
8g.60853213A>GCA371325433CHD7c.6488A>G (p.Gln2163Arg)
c.1717-9016A>G (n.1717-9016A>G)
c.6578A>G (p.Gln2193Arg)
c.4565A>G (p.Gln1522Arg)
c.4115A>G (p.Gln1372Arg)
c.3323A>G (p.Gln1108Arg)
8g.60853213A>TCA371325430CHD7c.6488A>T (p.Gln2163Leu)
c.1717-9016A>T (n.1717-9016A>T)
c.6578A>T (p.Gln2193Leu)
c.4565A>T (p.Gln1522Leu)
c.4115A>T (p.Gln1372Leu)
c.3323A>T (p.Gln1108Leu)
8g.60853214A>CCA371325435CHD7c.6489A>C (p.Gln2163His)
c.1717-9015A>C (n.1717-9015A>C)
c.6579A>C (p.Gln2193His)
c.4566A>C (p.Gln1522His)
c.4116A>C (p.Gln1372His)
c.3324A>C (p.Gln1108His)
8g.60853214A>GCA461105067CHD7c.6489A>G (p.Gln2163=)
c.1717-9015A>G (n.1717-9015A>G)
c.6579A>G (p.Gln2193=)
c.4566A>G (p.Gln1522=)
c.4116A>G (p.Gln1372=)
c.3324A>G (p.Gln1108=)
 gnomAD v4
8g.60853214A>TCA371325437CHD7c.6489A>T (p.Gln2163His)
c.1717-9015A>T (n.1717-9015A>T)
c.6579A>T (p.Gln2193His)
c.4566A>T (p.Gln1522His)
c.4116A>T (p.Gln1372His)
c.3324A>T (p.Gln1108His)
8g.60853215G>ACA371325439CHD7c.6490G>A (p.Asp2164Asn)
c.1717-9014G>A (n.1717-9014G>A)
c.6580G>A (p.Asp2194Asn)
c.4567G>A (p.Asp1523Asn)
c.4117G>A (p.Asp1373Asn)
c.3325G>A (p.Asp1109Asn)
8g.60853215G>CCA371325441CHD7c.6490G>C (p.Asp2164His)
c.1717-9014G>C (n.1717-9014G>C)
c.6580G>C (p.Asp2194His)
c.4567G>C (p.Asp1523His)
c.4117G>C (p.Asp1373His)
c.3325G>C (p.Asp1109His)
8g.60853215G>TCA371325442CHD7c.6490G>T (p.Asp2164Tyr)
c.1717-9014G>T (n.1717-9014G>T)
c.6580G>T (p.Asp2194Tyr)
c.4567G>T (p.Asp1523Tyr)
c.4117G>T (p.Asp1373Tyr)
c.3325G>T (p.Asp1109Tyr)
8g.60853216A>CCA371325444CHD7c.6491A>C (p.Asp2164Ala)
c.1717-9013A>C (n.1717-9013A>C)
c.6581A>C (p.Asp2194Ala)
c.4568A>C (p.Asp1523Ala)
c.4118A>C (p.Asp1373Ala)
c.3326A>C (p.Asp1109Ala)
8g.60853216A>GCA371325445CHD7c.6491A>G (p.Asp2164Gly)
c.1717-9013A>G (n.1717-9013A>G)
c.6581A>G (p.Asp2194Gly)
c.4568A>G (p.Asp1523Gly)
c.4118A>G (p.Asp1373Gly)
c.3326A>G (p.Asp1109Gly)
8g.60853216A>TCA371325447CHD7c.6491A>T (p.Asp2164Val)
c.1717-9013A>T (n.1717-9013A>T)
c.6581A>T (p.Asp2194Val)
c.4568A>T (p.Asp1523Val)
c.4118A>T (p.Asp1373Val)
c.3326A>T (p.Asp1109Val)
8g.60853217T>ACA371325451CHD7c.6492T>A (p.Asp2164Glu)
c.1717-9012T>A (n.1717-9012T>A)
c.6582T>A (p.Asp2194Glu)
c.4569T>A (p.Asp1523Glu)
c.4119T>A (p.Asp1373Glu)
c.3327T>A (p.Asp1109Glu)
 ClinVar dbSNP
8g.60853217T>CCA461105068CHD7c.6492T>C (p.Asp2164=)
c.1717-9012T>C (n.1717-9012T>C)
c.6582T>C (p.Asp2194=)
c.4569T>C (p.Asp1523=)
c.4119T>C (p.Asp1373=)
c.3327T>C (p.Asp1109=)
 dbSNP
8g.60853217T>GCA371325452CHD7c.6492T>G (p.Asp2164Glu)
c.1717-9012T>G (n.1717-9012T>G)
c.6582T>G (p.Asp2194Glu)
c.4569T>G (p.Asp1523Glu)
c.4119T>G (p.Asp1373Glu)
c.3327T>G (p.Asp1109Glu)
8g.60853217T=CA1788104188CHD7c.6492T= (p.Asp2164=)
c.1717-9012T= (n.1717-9012T=)
c.6582T= (p.Asp2194=)
c.4569T= (p.Asp1523=)
c.4119T= (p.Asp1373=)
c.3327T= (p.Asp1109=)
8g.60853217_60853218dupCA2695209426CHD7c.6492_6493dup (p.Glu2165ValfsTer?)
c.1717-9012_1717-9011dup (n.1717-9012_1717-9011dup)
c.6582_6583dup (p.Glu2195ValfsTer?)
c.4569_4570dup (p.Glu1524ValfsTer?)
c.4119_4120dup (p.Glu1374ValfsTer?)
c.3327_3328dup (p.Glu1110ValfsTer?)
8g.60853218G>ACA371325453CHD7c.6493G>A (p.Glu2165Lys)
c.1717-9011G>A (n.1717-9011G>A)
c.6583G>A (p.Glu2195Lys)
c.4570G>A (p.Glu1524Lys)
c.4120G>A (p.Glu1374Lys)
c.3328G>A (p.Glu1110Lys)
8g.60853218G>CCA371325454CHD7c.6493G>C (p.Glu2165Gln)
c.1717-9011G>C (n.1717-9011G>C)
c.6583G>C (p.Glu2195Gln)
c.4570G>C (p.Glu1524Gln)
c.4120G>C (p.Glu1374Gln)
c.3328G>C (p.Glu1110Gln)
8g.60853218G>TCA371325455CHD7c.6493G>T (p.Glu2165Ter)
c.1717-9011G>T (n.1717-9011G>T)
c.6583G>T (p.Glu2195Ter)
c.4570G>T (p.Glu1524Ter)
c.4120G>T (p.Glu1374Ter)
c.3328G>T (p.Glu1110Ter)
8g.60853219A=CA1788104196CHD7c.6494A= (p.Glu2165=)
c.1717-9010A= (n.1717-9010A=)
c.6584A= (p.Glu2195=)
c.4571A= (p.Glu1524=)
c.4121A= (p.Glu1374=)
c.3329A= (p.Glu1110=)
8g.60853219A>CCA371325461CHD7c.6494A>C (p.Glu2165Ala)
c.1717-9010A>C (n.1717-9010A>C)
c.6584A>C (p.Glu2195Ala)
c.4571A>C (p.Glu1524Ala)
c.4121A>C (p.Glu1374Ala)
c.3329A>C (p.Glu1110Ala)
8g.60853219A>GCA4760599CHD7c.6494A>G (p.Glu2165Gly)
c.1717-9010A>G (n.1717-9010A>G)
c.6584A>G (p.Glu2195Gly)
c.4571A>G (p.Glu1524Gly)
c.4121A>G (p.Glu1374Gly)
c.3329A>G (p.Glu1110Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60853219A>TCA371325463CHD7c.6494A>T (p.Glu2165Val)
c.1717-9010A>T (n.1717-9010A>T)
c.6584A>T (p.Glu2195Val)
c.4571A>T (p.Glu1524Val)
c.4121A>T (p.Glu1374Val)
c.3329A>T (p.Glu1110Val)
8g.60853220G>ACA461105069CHD7c.6495G>A (p.Glu2165=)
c.1717-9009G>A (n.1717-9009G>A)
c.6585G>A (p.Glu2195=)
c.4572G>A (p.Glu1524=)
c.4122G>A (p.Glu1374=)
c.3330G>A (p.Glu1110=)
8g.60853220G>CCA371325465CHD7c.6495G>C (p.Glu2165Asp)
c.1717-9009G>C (n.1717-9009G>C)
c.6585G>C (p.Glu2195Asp)
c.4572G>C (p.Glu1524Asp)
c.4122G>C (p.Glu1374Asp)
c.3330G>C (p.Glu1110Asp)
8g.60853220G>TCA371325468CHD7c.6495G>T (p.Glu2165Asp)
c.1717-9009G>T (n.1717-9009G>T)
c.6585G>T (p.Glu2195Asp)
c.4572G>T (p.Glu1524Asp)
c.4122G>T (p.Glu1374Asp)
c.3330G>T (p.Glu1110Asp)
8g.60853221A>CCA461105070CHD7c.6496A>C (p.Arg2166=)
c.1717-9008A>C (n.1717-9008A>C)
c.6586A>C (p.Arg2196=)
c.4573A>C (p.Arg1525=)
c.4123A>C (p.Arg1375=)
c.3331A>C (p.Arg1111=)
8g.60853221A>GCA371325474CHD7c.6496A>G (p.Arg2166Gly)
c.1717-9008A>G (n.1717-9008A>G)
c.6586A>G (p.Arg2196Gly)
c.4573A>G (p.Arg1525Gly)
c.4123A>G (p.Arg1375Gly)
c.3331A>G (p.Arg1111Gly)
8g.60853221A>TCA371325475CHD7c.6496A>T (p.Arg2166Trp)
c.1717-9008A>T (n.1717-9008A>T)
c.6586A>T (p.Arg2196Trp)
c.4573A>T (p.Arg1525Trp)
c.4123A>T (p.Arg1375Trp)
c.3331A>T (p.Arg1111Trp)
8g.60853222G>ACA4760600CHD7c.6497G>A (p.Arg2166Lys)
c.1717-9007G>A (n.1717-9007G>A)
c.6587G>A (p.Arg2196Lys)
c.4574G>A (p.Arg1525Lys)
c.4124G>A (p.Arg1375Lys)
c.3332G>A (p.Arg1111Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.60853222G>CCA371325479CHD7c.6497G>C (p.Arg2166Thr)
c.1717-9007G>C (n.1717-9007G>C)
c.6587G>C (p.Arg2196Thr)
c.4574G>C (p.Arg1525Thr)
c.4124G>C (p.Arg1375Thr)
c.3332G>C (p.Arg1111Thr)
8g.60853222G=CA1788104203CHD7c.6497G= (p.Arg2166=)
c.1717-9007G= (n.1717-9007G=)
c.6587G= (p.Arg2196=)
c.4574G= (p.Arg1525=)
c.4124G= (p.Arg1375=)
c.3332G= (p.Arg1111=)
8g.60853222G>TCA371325482CHD7c.6497G>T (p.Arg2166Met)
c.1717-9007G>T (n.1717-9007G>T)
c.6587G>T (p.Arg2196Met)
c.4574G>T (p.Arg1525Met)
c.4124G>T (p.Arg1375Met)
c.3332G>T (p.Arg1111Met)
8g.60853223G>ACA461105071CHD7c.6498G>A (p.Arg2166=)
c.1717-9006G>A (n.1717-9006G>A)
c.6588G>A (p.Arg2196=)
c.4575G>A (p.Arg1525=)
c.4125G>A (p.Arg1375=)
c.3333G>A (p.Arg1111=)
8g.60853223G>CCA371325484CHD7c.6498G>C (p.Arg2166Ser)
c.1717-9006G>C (n.1717-9006G>C)
c.6588G>C (p.Arg2196Ser)
c.4575G>C (p.Arg1525Ser)
c.4125G>C (p.Arg1375Ser)
c.3333G>C (p.Arg1111Ser)
8g.60853223G>TCA371325486CHD7c.6498G>T (p.Arg2166Ser)
c.1717-9006G>T (n.1717-9006G>T)
c.6588G>T (p.Arg2196Ser)
c.4575G>T (p.Arg1525Ser)
c.4125G>T (p.Arg1375Ser)
c.3333G>T (p.Arg1111Ser)
 gnomAD v4
8g.60853224G>ACA177354136CHD7c.6499G>A (p.Val2167Ile)
c.1717-9005G>A (n.1717-9005G>A)
c.6589G>A (p.Val2197Ile)
c.4576G>A (p.Val1526Ile)
c.4126G>A (p.Val1376Ile)
c.3334G>A (p.Val1112Ile)
 dbSNP gnomAD v2 gnomAD v4
8g.60853224G>CCA371325491CHD7c.6499G>C (p.Val2167Leu)
c.1717-9005G>C (n.1717-9005G>C)
c.6589G>C (p.Val2197Leu)
c.4576G>C (p.Val1526Leu)
c.4126G>C (p.Val1376Leu)
c.3334G>C (p.Val1112Leu)
8g.60853224G=CA1788104218CHD7c.6499G= (p.Val2167=)
c.1717-9005G= (n.1717-9005G=)
c.6589G= (p.Val2197=)
c.4576G= (p.Val1526=)
c.4126G= (p.Val1376=)
c.3334G= (p.Val1112=)
8g.60853224G>TCA371325489CHD7c.6499G>T (p.Val2167Leu)
c.1717-9005G>T (n.1717-9005G>T)
c.6589G>T (p.Val2197Leu)
c.4576G>T (p.Val1526Leu)
c.4126G>T (p.Val1376Leu)
c.3334G>T (p.Val1112Leu)
 dbSNP gnomAD v4
8g.60853225T>ACA371325496CHD7c.6500T>A (p.Val2167Glu)
c.1717-9004T>A (n.1717-9004T>A)
c.6590T>A (p.Val2197Glu)
c.4577T>A (p.Val1526Glu)
c.4127T>A (p.Val1376Glu)
c.3335T>A (p.Val1112Glu)
 dbSNP
8g.60853225T>CCA371325497CHD7c.6500T>C (p.Val2167Ala)
c.1717-9004T>C (n.1717-9004T>C)
c.6590T>C (p.Val2197Ala)
c.4577T>C (p.Val1526Ala)
c.4127T>C (p.Val1376Ala)
c.3335T>C (p.Val1112Ala)
8g.60853225T>GCA371325499CHD7c.6500T>G (p.Val2167Gly)
c.1717-9004T>G (n.1717-9004T>G)
c.6590T>G (p.Val2197Gly)
c.4577T>G (p.Val1526Gly)
c.4127T>G (p.Val1376Gly)
c.3335T>G (p.Val1112Gly)
 dbSNP
8g.60853225T=CA1788104223CHD7c.6500T= (p.Val2167=)
c.1717-9004T= (n.1717-9004T=)
c.6590T= (p.Val2197=)
c.4577T= (p.Val1526=)
c.4127T= (p.Val1376=)
c.3335T= (p.Val1112=)
8g.60853226A>CCA461105072CHD7c.6501A>C (p.Val2167=)
c.1717-9003A>C (n.1717-9003A>C)
c.6591A>C (p.Val2197=)
c.4578A>C (p.Val1526=)
c.4128A>C (p.Val1376=)
c.3336A>C (p.Val1112=)
8g.60853226A>GCA461105073CHD7c.6501A>G (p.Val2167=)
c.1717-9003A>G (n.1717-9003A>G)
c.6591A>G (p.Val2197=)
c.4578A>G (p.Val1526=)
c.4128A>G (p.Val1376=)
c.3336A>G (p.Val1112=)
8g.60853226A>TCA461105074CHD7c.6501A>T (p.Val2167=)
c.1717-9003A>T (n.1717-9003A>T)
c.6591A>T (p.Val2197=)
c.4578A>T (p.Val1526=)
c.4128A>T (p.Val1376=)
c.3336A>T (p.Val1112=)
8g.60853227delCA2695209427CHD7c.6502del (p.Leu2168TrpfsTer?)
c.1717-9002del (n.1717-9002del)
c.6592del (p.Leu2198TrpfsTer?)
c.4579del (p.Leu1527TrpfsTer?)
c.4129del (p.Leu1377TrpfsTer?)
c.3337del (p.Leu1113TrpfsTer?)
8g.60853227C>ACA371325501CHD7c.6502C>A (p.Leu2168Met)
c.1717-9002C>A (n.1717-9002C>A)
c.6592C>A (p.Leu2198Met)
c.4579C>A (p.Leu1527Met)
c.4129C>A (p.Leu1377Met)
c.3337C>A (p.Leu1113Met)
8g.60853227C=CA1788104224CHD7c.6502C= (p.Leu2168=)
c.1717-9002C= (n.1717-9002C=)
c.6592C= (p.Leu2198=)
c.4579C= (p.Leu1527=)
c.4129C= (p.Leu1377=)
c.3337C= (p.Leu1113=)
8g.60853227C>GCA371325503CHD7c.6502C>G (p.Leu2168Val)
c.1717-9002C>G (n.1717-9002C>G)
c.6592C>G (p.Leu2198Val)
c.4579C>G (p.Leu1527Val)
c.4129C>G (p.Leu1377Val)
c.3337C>G (p.Leu1113Val)
 dbSNP
8g.60853227C>TCA461105075CHD7c.6502C>T (p.Leu2168=)
c.1717-9002C>T (n.1717-9002C>T)
c.6592C>T (p.Leu2198=)
c.4579C>T (p.Leu1527=)
c.4129C>T (p.Leu1377=)
c.3337C>T (p.Leu1113=)
8g.60853228T>ACA371325504CHD7c.6503T>A (p.Leu2168Gln)
c.1717-9001T>A (n.1717-9001T>A)
c.6593T>A (p.Leu2198Gln)
c.4580T>A (p.Leu1527Gln)
c.4130T>A (p.Leu1377Gln)
c.3338T>A (p.Leu1113Gln)
8g.60853228T>CCA371325506CHD7c.6503T>C (p.Leu2168Pro)
c.1717-9001T>C (n.1717-9001T>C)
c.6593T>C (p.Leu2198Pro)
c.4580T>C (p.Leu1527Pro)
c.4130T>C (p.Leu1377Pro)
c.3338T>C (p.Leu1113Pro)
8g.60853228T>GCA371325507CHD7c.6503T>G (p.Leu2168Arg)
c.1717-9001T>G (n.1717-9001T>G)
c.6593T>G (p.Leu2198Arg)
c.4580T>G (p.Leu1527Arg)
c.4130T>G (p.Leu1377Arg)
c.3338T>G (p.Leu1113Arg)
 gnomAD v4
8g.60853229G>ACA461105076CHD7c.6504G>A (p.Leu2168=)
c.1717-9000G>A (n.1717-9000G>A)
c.6594G>A (p.Leu2198=)
c.4581G>A (p.Leu1527=)
c.4131G>A (p.Leu1377=)
c.3339G>A (p.Leu1113=)
8g.60853229G>CCA461105077CHD7c.6504G>C (p.Leu2168=)
c.1717-9000G>C (n.1717-9000G>C)
c.6594G>C (p.Leu2198=)
c.4581G>C (p.Leu1527=)
c.4131G>C (p.Leu1377=)
c.3339G>C (p.Leu1113=)
8g.60853229G>TCA461105078CHD7c.6504G>T (p.Leu2168=)
c.1717-9000G>T (n.1717-9000G>T)
c.6594G>T (p.Leu2198=)
c.4581G>T (p.Leu1527=)
c.4131G>T (p.Leu1377=)
c.3339G>T (p.Leu1113=)
8g.60853230G>ACA371325510CHD7c.6505G>A (p.Glu2169Lys)
c.1717-8999G>A (n.1717-8999G>A)
c.6595G>A (p.Glu2199Lys)
c.4582G>A (p.Glu1528Lys)
c.4132G>A (p.Glu1378Lys)
c.3340G>A (p.Glu1114Lys)
 dbSNP gnomAD v2
8g.60853230G>CCA371325513CHD7c.6505G>C (p.Glu2169Gln)
c.1717-8999G>C (n.1717-8999G>C)
c.6595G>C (p.Glu2199Gln)
c.4582G>C (p.Glu1528Gln)
c.4132G>C (p.Glu1378Gln)
c.3340G>C (p.Glu1114Gln)
8g.60853230G=CA1788104227CHD7c.6505G= (p.Glu2169=)
c.1717-8999G= (n.1717-8999G=)
c.6595G= (p.Glu2199=)
c.4582G= (p.Glu1528=)
c.4132G= (p.Glu1378=)
c.3340G= (p.Glu1114=)
8g.60853230G>TCA371325515CHD7c.6505G>T (p.Glu2169Ter)
c.1717-8999G>T (n.1717-8999G>T)
c.6595G>T (p.Glu2199Ter)
c.4582G>T (p.Glu1528Ter)
c.4132G>T (p.Glu1378Ter)
c.3340G>T (p.Glu1114Ter)
8g.60853231A>CCA371325521CHD7c.6506A>C (p.Glu2169Ala)
c.1717-8998A>C (n.1717-8998A>C)
c.6596A>C (p.Glu2199Ala)
c.4583A>C (p.Glu1528Ala)
c.4133A>C (p.Glu1378Ala)
c.3341A>C (p.Glu1114Ala)
8g.60853231A>GCA371325519CHD7c.6506A>G (p.Glu2169Gly)
c.1717-8998A>G (n.1717-8998A>G)
c.6596A>G (p.Glu2199Gly)
c.4583A>G (p.Glu1528Gly)
c.4133A>G (p.Glu1378Gly)
c.3341A>G (p.Glu1114Gly)
8g.60853231A>TCA371325517CHD7c.6506A>T (p.Glu2169Val)
c.1717-8998A>T (n.1717-8998A>T)
c.6596A>T (p.Glu2199Val)
c.4583A>T (p.Glu1528Val)
c.4133A>T (p.Glu1378Val)
c.3341A>T (p.Glu1114Val)
8g.60853232A>CCA371325523CHD7c.6507A>C (p.Glu2169Asp)
c.1717-8997A>C (n.1717-8997A>C)
c.6597A>C (p.Glu2199Asp)
c.4584A>C (p.Glu1528Asp)
c.4134A>C (p.Glu1378Asp)
c.3342A>C (p.Glu1114Asp)
8g.60853232A>GCA461105079CHD7c.6507A>G (p.Glu2169=)
c.1717-8997A>G (n.1717-8997A>G)
c.6597A>G (p.Glu2199=)
c.4584A>G (p.Glu1528=)
c.4134A>G (p.Glu1378=)
c.3342A>G (p.Glu1114=)
8g.60853232A>TCA371325524CHD7c.6507A>T (p.Glu2169Asp)
c.1717-8997A>T (n.1717-8997A>T)
c.6597A>T (p.Glu2199Asp)
c.4584A>T (p.Glu1528Asp)
c.4134A>T (p.Glu1378Asp)
c.3342A>T (p.Glu1114Asp)
8g.60853233C>ACA4760601CHD7c.6508C>A (p.Gln2170Lys)
c.1717-8996C>A (n.1717-8996C>A)
c.6598C>A (p.Gln2200Lys)
c.4585C>A (p.Gln1529Lys)
c.4135C>A (p.Gln1379Lys)
c.3343C>A (p.Gln1115Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.60853233C=CA1788104238CHD7c.6508C= (p.Gln2170=)
c.1717-8996C= (n.1717-8996C=)
c.6598C= (p.Gln2200=)
c.4585C= (p.Gln1529=)
c.4135C= (p.Gln1379=)
c.3343C= (p.Gln1115=)
8g.60853233C>GCA371325527CHD7c.6508C>G (p.Gln2170Glu)
c.1717-8996C>G (n.1717-8996C>G)
c.6598C>G (p.Gln2200Glu)
c.4585C>G (p.Gln1529Glu)
c.4135C>G (p.Gln1379Glu)
c.3343C>G (p.Gln1115Glu)
8g.60853233C>TCA371325529CHD7c.6508C>T (p.Gln2170Ter)
c.1717-8996C>T (n.1717-8996C>T)
c.6598C>T (p.Gln2200Ter)
c.4585C>T (p.Gln1529Ter)
c.4135C>T (p.Gln1379Ter)
c.3343C>T (p.Gln1115Ter)
8g.60853234A>CCA371325532CHD7c.6509A>C (p.Gln2170Pro)
c.1717-8995A>C (n.1717-8995A>C)
c.6599A>C (p.Gln2200Pro)
c.4586A>C (p.Gln1529Pro)
c.4136A>C (p.Gln1379Pro)
c.3344A>C (p.Gln1115Pro)
8g.60853234A>GCA371325533CHD7c.6509A>G (p.Gln2170Arg)
c.1717-8995A>G (n.1717-8995A>G)
c.6599A>G (p.Gln2200Arg)
c.4586A>G (p.Gln1529Arg)
c.4136A>G (p.Gln1379Arg)
c.3344A>G (p.Gln1115Arg)
8g.60853234A>TCA371325535CHD7c.6509A>T (p.Gln2170Leu)
c.1717-8995A>T (n.1717-8995A>T)
c.6599A>T (p.Gln2200Leu)
c.4586A>T (p.Gln1529Leu)
c.4136A>T (p.Gln1379Leu)
c.3344A>T (p.Gln1115Leu)
8g.60853235A>CCA371325537CHD7c.6510A>C (p.Gln2170His)
c.1717-8994A>C (n.1717-8994A>C)
c.6600A>C (p.Gln2200His)
c.4587A>C (p.Gln1529His)
c.4137A>C (p.Gln1379His)
c.3345A>C (p.Gln1115His)
8g.60853235A>GCA461105081CHD7c.6510A>G (p.Gln2170=)
c.1717-8994A>G (n.1717-8994A>G)
c.6600A>G (p.Gln2200=)
c.4587A>G (p.Gln1529=)
c.4137A>G (p.Gln1379=)
c.3345A>G (p.Gln1115=)
8g.60853235A>TCA371325539CHD7c.6510A>T (p.Gln2170His)
c.1717-8994A>T (n.1717-8994A>T)
c.6600A>T (p.Gln2200His)
c.4587A>T (p.Gln1529His)
c.4137A>T (p.Gln1379His)
c.3345A>T (p.Gln1115His)
8g.60853236G>ACA371325540CHD7c.6511G>A (p.Ala2171Thr)
c.1717-8993G>A (n.1717-8993G>A)
c.6601G>A (p.Ala2201Thr)
c.4588G>A (p.Ala1530Thr)
c.4138G>A (p.Ala1380Thr)
c.3346G>A (p.Ala1116Thr)
 dbSNP
8g.60853236G>CCA371325541CHD7c.6511G>C (p.Ala2171Pro)
c.1717-8993G>C (n.1717-8993G>C)
c.6601G>C (p.Ala2201Pro)
c.4588G>C (p.Ala1530Pro)
c.4138G>C (p.Ala1380Pro)
c.3346G>C (p.Ala1116Pro)
8g.60853236G>TCA371325542CHD7c.6511G>T (p.Ala2171Ser)
c.1717-8993G>T (n.1717-8993G>T)
c.6601G>T (p.Ala2201Ser)
c.4588G>T (p.Ala1530Ser)
c.4138G>T (p.Ala1380Ser)
c.3346G>T (p.Ala1116Ser)
8g.60853237C>ACA371325544CHD7c.6512C>A (p.Ala2171Asp)
c.1717-8992C>A (n.1717-8992C>A)
c.6602C>A (p.Ala2201Asp)
c.4589C>A (p.Ala1530Asp)
c.4139C>A (p.Ala1380Asp)
c.3347C>A (p.Ala1116Asp)
8g.60853237C>GCA371325546CHD7c.6512C>G (p.Ala2171Gly)
c.1717-8992C>G (n.1717-8992C>G)
c.6602C>G (p.Ala2201Gly)
c.4589C>G (p.Ala1530Gly)
c.4139C>G (p.Ala1380Gly)
c.3347C>G (p.Ala1116Gly)
8g.60853237C>TCA371325543CHD7c.6512C>T (p.Ala2171Val)
c.1717-8992C>T (n.1717-8992C>T)
c.6602C>T (p.Ala2201Val)
c.4589C>T (p.Ala1530Val)
c.4139C>T (p.Ala1380Val)
c.3347C>T (p.Ala1116Val)
 gnomAD v4
8g.60853238C>ACA177354140CHD7c.6513C>A (p.Ala2171=)
c.1717-8991C>A (n.1717-8991C>A)
c.6603C>A (p.Ala2201=)
c.4590C>A (p.Ala1530=)
c.4140C>A (p.Ala1380=)
c.3348C>A (p.Ala1116=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.60853238C=CA1788104247CHD7c.6513C= (p.Ala2171=)
c.1717-8991C= (n.1717-8991C=)
c.6603C= (p.Ala2201=)
c.4590C= (p.Ala1530=)
c.4140C= (p.Ala1380=)
c.3348C= (p.Ala1116=)
8g.60853238C>GCA461105086CHD7c.6513C>G (p.Ala2171=)
c.1717-8991C>G (n.1717-8991C>G)
c.6603C>G (p.Ala2201=)
c.4590C>G (p.Ala1530=)
c.4140C>G (p.Ala1380=)
c.3348C>G (p.Ala1116=)
8g.60853238C>TCA223315CHD7c.6513C>T (p.Ala2171=)
c.1717-8991C>T (n.1717-8991C>T)
c.6603C>T (p.Ala2201=)
c.4590C>T (p.Ala1530=)
c.4140C>T (p.Ala1380=)
c.3348C>T (p.Ala1116=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60853239G>ACA4760602CHD7c.6514G>A (p.Glu2172Lys)
c.1717-8990G>A (n.1717-8990G>A)
c.6604G>A (p.Glu2202Lys)
c.4591G>A (p.Glu1531Lys)
c.4141G>A (p.Glu1381Lys)
c.3349G>A (p.Glu1117Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.60853239G>CCA371325549CHD7c.6514G>C (p.Glu2172Gln)
c.1717-8990G>C (n.1717-8990G>C)
c.6604G>C (p.Glu2202Gln)
c.4591G>C (p.Glu1531Gln)
c.4141G>C (p.Glu1381Gln)
c.3349G>C (p.Glu1117Gln)
8g.60853239G=CA1788104258CHD7c.6514G= (p.Glu2172=)
c.1717-8990G= (n.1717-8990G=)
c.6604G= (p.Glu2202=)
c.4591G= (p.Glu1531=)
c.4141G= (p.Glu1381=)
c.3349G= (p.Glu1117=)
8g.60853239G>TCA371325550CHD7c.6514G>T (p.Glu2172Ter)
c.1717-8990G>T (n.1717-8990G>T)
c.6604G>T (p.Glu2202Ter)
c.4591G>T (p.Glu1531Ter)
c.4141G>T (p.Glu1381Ter)
c.3349G>T (p.Glu1117Ter)
 ClinVar dbSNP
8g.60853240A>CCA371325552CHD7c.6515A>C (p.Glu2172Ala)
c.1717-8989A>C (n.1717-8989A>C)
c.6605A>C (p.Glu2202Ala)
c.4592A>C (p.Glu1531Ala)
c.4142A>C (p.Glu1381Ala)
c.3350A>C (p.Glu1117Ala)
8g.60853240A>GCA371325554CHD7c.6515A>G (p.Glu2172Gly)
c.1717-8989A>G (n.1717-8989A>G)
c.6605A>G (p.Glu2202Gly)
c.4592A>G (p.Glu1531Gly)
c.4142A>G (p.Glu1381Gly)
c.3350A>G (p.Glu1117Gly)
8g.60853240A>TCA371325555CHD7c.6515A>T (p.Glu2172Val)
c.1717-8989A>T (n.1717-8989A>T)
c.6605A>T (p.Glu2202Val)
c.4592A>T (p.Glu1531Val)
c.4142A>T (p.Glu1381Val)
c.3350A>T (p.Glu1117Val)
8g.60853241A>CCA371325558CHD7c.6516A>C (p.Glu2172Asp)
c.1717-8988A>C (n.1717-8988A>C)
c.6606A>C (p.Glu2202Asp)
c.4593A>C (p.Glu1531Asp)
c.4143A>C (p.Glu1381Asp)
c.3351A>C (p.Glu1117Asp)
8g.60853241A>GCA461105088CHD7c.6516A>G (p.Glu2172=)
c.1717-8988A>G (n.1717-8988A>G)
c.6606A>G (p.Glu2202=)
c.4593A>G (p.Glu1531=)
c.4143A>G (p.Glu1381=)
c.3351A>G (p.Glu1117=)
8g.60853241A>TCA371325557CHD7c.6516A>T (p.Glu2172Asp)
c.1717-8988A>T (n.1717-8988A>T)
c.6606A>T (p.Glu2202Asp)
c.4593A>T (p.Glu1531Asp)
c.4143A>T (p.Glu1381Asp)
c.3351A>T (p.Glu1117Asp)
8g.60853242G>ACA371325561CHD7c.6517G>A (p.Gly2173Ser)
c.1717-8987G>A (n.1717-8987G>A)
c.6607G>A (p.Gly2203Ser)
c.4594G>A (p.Gly1532Ser)
c.4144G>A (p.Gly1382Ser)
c.3352G>A (p.Gly1118Ser)
8g.60853242G>CCA371325562CHD7c.6517G>C (p.Gly2173Arg)
c.1717-8987G>C (n.1717-8987G>C)
c.6607G>C (p.Gly2203Arg)
c.4594G>C (p.Gly1532Arg)
c.4144G>C (p.Gly1382Arg)
c.3352G>C (p.Gly1118Arg)
8g.60853242G>TCA371325564CHD7c.6517G>T (p.Gly2173Cys)
c.1717-8987G>T (n.1717-8987G>T)
c.6607G>T (p.Gly2203Cys)
c.4594G>T (p.Gly1532Cys)
c.4144G>T (p.Gly1382Cys)
c.3352G>T (p.Gly1118Cys)
8g.60853243G>ACA371325565CHD7c.6518G>A (p.Gly2173Asp)
c.1717-8986G>A (n.1717-8986G>A)
c.6608G>A (p.Gly2203Asp)
c.4595G>A (p.Gly1532Asp)
c.4145G>A (p.Gly1382Asp)
c.3353G>A (p.Gly1118Asp)
 dbSNP gnomAD v2 gnomAD v4
8g.60853243G>CCA371325566CHD7c.6518G>C (p.Gly2173Ala)
c.1717-8986G>C (n.1717-8986G>C)
c.6608G>C (p.Gly2203Ala)
c.4595G>C (p.Gly1532Ala)
c.4145G>C (p.Gly1382Ala)
c.3353G>C (p.Gly1118Ala)
8g.60853243G=CA1788104264CHD7c.6518G= (p.Gly2173=)
c.1717-8986G= (n.1717-8986G=)
c.6608G= (p.Gly2203=)
c.4595G= (p.Gly1532=)
c.4145G= (p.Gly1382=)
c.3353G= (p.Gly1118=)
8g.60853243G>TCA371325568CHD7c.6518G>T (p.Gly2173Val)
c.1717-8986G>T (n.1717-8986G>T)
c.6608G>T (p.Gly2203Val)
c.4595G>T (p.Gly1532Val)
c.4145G>T (p.Gly1382Val)
c.3353G>T (p.Gly1118Val)
8g.60853244C>ACA461105092CHD7c.6519C>A (p.Gly2173=)
c.1717-8985C>A (n.1717-8985C>A)
c.6609C>A (p.Gly2203=)
c.4596C>A (p.Gly1532=)
c.4146C>A (p.Gly1382=)
c.3354C>A (p.Gly1118=)
8g.60853244C>GCA461105093CHD7c.6519C>G (p.Gly2173=)
c.1717-8985C>G (n.1717-8985C>G)
c.6609C>G (p.Gly2203=)
c.4596C>G (p.Gly1532=)
c.4146C>G (p.Gly1382=)
c.3354C>G (p.Gly1118=)
8g.60853244C>TCA461105094CHD7c.6519C>T (p.Gly2173=)
c.1717-8985C>T (n.1717-8985C>T)
c.6609C>T (p.Gly2203=)
c.4596C>T (p.Gly1532=)
c.4146C>T (p.Gly1382=)
c.3354C>T (p.Gly1118=)
8g.60853245A>CCA371325570CHD7c.6520A>C (p.Lys2174Gln)
c.1717-8984A>C (n.1717-8984A>C)
c.6610A>C (p.Lys2204Gln)
c.4597A>C (p.Lys1533Gln)
c.4147A>C (p.Lys1383Gln)
c.3355A>C (p.Lys1119Gln)
8g.60853245A>GCA371325573CHD7c.6520A>G (p.Lys2174Glu)
c.1717-8984A>G (n.1717-8984A>G)
c.6610A>G (p.Lys2204Glu)
c.4597A>G (p.Lys1533Glu)
c.4147A>G (p.Lys1383Glu)
c.3355A>G (p.Lys1119Glu)
8g.60853245A>TCA371325572CHD7c.6520A>T (p.Lys2174Ter)
c.1717-8984A>T (n.1717-8984A>T)
c.6610A>T (p.Lys2204Ter)
c.4597A>T (p.Lys1533Ter)
c.4147A>T (p.Lys1383Ter)
c.3355A>T (p.Lys1119Ter)
8g.60853246A=CA1788104271CHD7c.6521A= (p.Lys2174=)
c.1717-8983A= (n.1717-8983A=)
c.6611A= (p.Lys2204=)
c.4598A= (p.Lys1533=)
c.4148A= (p.Lys1383=)
c.3356A= (p.Lys1119=)
8g.60853246A>CCA371325574CHD7c.6521A>C (p.Lys2174Thr)
c.1717-8983A>C (n.1717-8983A>C)
c.6611A>C (p.Lys2204Thr)
c.4598A>C (p.Lys1533Thr)
c.4148A>C (p.Lys1383Thr)
c.3356A>C (p.Lys1119Thr)
 gnomAD v4
8g.60853246A>GCA371325576CHD7c.6521A>G (p.Lys2174Arg)
c.1717-8983A>G (n.1717-8983A>G)
c.6611A>G (p.Lys2204Arg)
c.4598A>G (p.Lys1533Arg)
c.4148A>G (p.Lys1383Arg)
c.3356A>G (p.Lys1119Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.60853246A>TCA371325577CHD7c.6521A>T (p.Lys2174Ile)
c.1717-8983A>T (n.1717-8983A>T)
c.6611A>T (p.Lys2204Ile)
c.4598A>T (p.Lys1533Ile)
c.4148A>T (p.Lys1383Ile)
c.3356A>T (p.Lys1119Ile)
8g.60853246_60853250delCA2580078863CHD7c.6521_6525del (p.Lys2174ArgfsTer4)
c.1717-8983_1717-8979del (n.1717-8983_1717-8979del)
c.6611_6615del (p.Lys2204ArgfsTer4)
c.4598_4602del (p.Lys1533ArgfsTer4)
c.4148_4152del (p.Lys1383ArgfsTer4)
c.3356_3360del (p.Lys1119ArgfsTer4)
 ClinVar
8g.60853247A=CA1788104276CHD7c.6522A= (p.Lys2174=)
c.1717-8982A= (n.1717-8982A=)
c.6612A= (p.Lys2204=)
c.4599A= (p.Lys1533=)
c.4149A= (p.Lys1383=)
c.3357A= (p.Lys1119=)
8g.60853247A>CCA371325583CHD7c.6522A>C (p.Lys2174Asn)
c.1717-8982A>C (n.1717-8982A>C)
c.6612A>C (p.Lys2204Asn)
c.4599A>C (p.Lys1533Asn)
c.4149A>C (p.Lys1383Asn)
c.3357A>C (p.Lys1119Asn)
8g.60853247A>GCA461105099CHD7c.6522A>G (p.Lys2174=)
c.1717-8982A>G (n.1717-8982A>G)
c.6612A>G (p.Lys2204=)
c.4599A>G (p.Lys1533=)
c.4149A>G (p.Lys1383=)
c.3357A>G (p.Lys1119=)
 gnomAD v4
8g.60853247A>TCA4760603CHD7c.6522A>T (p.Lys2174Asn)
c.1717-8982A>T (n.1717-8982A>T)
c.6612A>T (p.Lys2204Asn)
c.4599A>T (p.Lys1533Asn)
c.4149A>T (p.Lys1383Asn)
c.3357A>T (p.Lys1119Asn)
 dbSNP ExAC gnomAD v2
8g.60853248G>ACA371325588CHD7c.6523G>A (p.Val2175Met)
c.1717-8981G>A (n.1717-8981G>A)
c.6613G>A (p.Val2205Met)
c.4600G>A (p.Val1534Met)
c.4150G>A (p.Val1384Met)
c.3358G>A (p.Val1120Met)
 dbSNP gnomAD v4
8g.60853248G>CCA371325589CHD7c.6523G>C (p.Val2175Leu)
c.1717-8981G>C (n.1717-8981G>C)
c.6613G>C (p.Val2205Leu)
c.4600G>C (p.Val1534Leu)
c.4150G>C (p.Val1384Leu)
c.3358G>C (p.Val1120Leu)
8g.60853248G=CA1788104293CHD7c.6523G= (p.Val2175=)
c.1717-8981G= (n.1717-8981G=)
c.6613G= (p.Val2205=)
c.4600G= (p.Val1534=)
c.4150G= (p.Val1384=)
c.3358G= (p.Val1120=)
8g.60853248G>TCA371325590CHD7c.6523G>T (p.Val2175Leu)
c.1717-8981G>T (n.1717-8981G>T)
c.6613G>T (p.Val2205Leu)
c.4600G>T (p.Val1534Leu)
c.4150G>T (p.Val1384Leu)
c.3358G>T (p.Val1120Leu)
8g.60853249T>ACA371325592CHD7c.6524T>A (p.Val2175Glu)
c.1717-8980T>A (n.1717-8980T>A)
c.6614T>A (p.Val2205Glu)
c.4601T>A (p.Val1534Glu)
c.4151T>A (p.Val1384Glu)
c.3359T>A (p.Val1120Glu)
8g.60853249T>CCA371325593CHD7c.6524T>C (p.Val2175Ala)
c.1717-8980T>C (n.1717-8980T>C)
c.6614T>C (p.Val2205Ala)
c.4601T>C (p.Val1534Ala)
c.4151T>C (p.Val1384Ala)
c.3359T>C (p.Val1120Ala)
8g.60853249T>GCA371325595CHD7c.6524T>G (p.Val2175Gly)
c.1717-8980T>G (n.1717-8980T>G)
c.6614T>G (p.Val2205Gly)
c.4601T>G (p.Val1534Gly)
c.4151T>G (p.Val1384Gly)
c.3359T>G (p.Val1120Gly)
 dbSNP
8g.60853249T=CA1788104302CHD7c.6524T= (p.Val2175=)
c.1717-8980T= (n.1717-8980T=)
c.6614T= (p.Val2205=)
c.4601T= (p.Val1534=)
c.4151T= (p.Val1384=)
c.3359T= (p.Val1120=)
8g.60853249_60853250delinsTGCA1788104299CHD7c.6524_6525delinsTG (p.Val2175=)
c.1717-8980_1717-8979delinsTG (n.1717-8980_1717-8979delinsTG)
c.6614_6615delinsTG (p.Val2205=)
c.4601_4602delinsTG (p.Val1534=)
c.4151_4152delinsTG (p.Val1384=)
c.3359_3360delinsTG (p.Val1120=)
8g.60853250G>ACA461105105CHD7c.6525G>A (p.Val2175=)
c.1717-8979G>A (n.1717-8979G>A)
c.6615G>A (p.Val2205=)
c.4602G>A (p.Val1534=)
c.4152G>A (p.Val1384=)
c.3360G>A (p.Val1120=)
8g.60853250G>CCA461105104CHD7c.6525G>C (p.Val2175=)
c.1717-8979G>C (n.1717-8979G>C)
c.6615G>C (p.Val2205=)
c.4602G>C (p.Val1534=)
c.4152G>C (p.Val1384=)
c.3360G>C (p.Val1120=)
8g.60853250G>TCA461105103CHD7c.6525G>T (p.Val2175=)
c.1717-8979G>T (n.1717-8979G>T)
c.6615G>T (p.Val2205=)
c.4602G>T (p.Val1534=)
c.4152G>T (p.Val1384=)
c.3360G>T (p.Val1120=)
8g.60853251delCA277453CHD7c.6526del (p.Glu2176ArgfsTer?)
c.1717-8978del (n.1717-8978del)
c.6616del (p.Glu2206ArgfsTer?)
c.4603del (p.Glu1535ArgfsTer?)
c.4153del (p.Glu1385ArgfsTer?)
c.3361del (p.Glu1121ArgfsTer?)
 ClinVar dbSNP
8g.60853251G>ACA371325598CHD7c.6526G>A (p.Glu2176Lys)
c.1717-8978G>A (n.1717-8978G>A)
c.6616G>A (p.Glu2206Lys)
c.4603G>A (p.Glu1535Lys)
c.4153G>A (p.Glu1385Lys)
c.3361G>A (p.Glu1121Lys)
 dbSNP gnomAD v2
8g.60853251G>CCA371325597CHD7c.6526G>C (p.Glu2176Gln)
c.1717-8978G>C (n.1717-8978G>C)
c.6616G>C (p.Glu2206Gln)
c.4603G>C (p.Glu1535Gln)
c.4153G>C (p.Glu1385Gln)
c.3361G>C (p.Glu1121Gln)
8g.60853251G=CA1788104322CHD7c.6526G= (p.Glu2176=)
c.1717-8978G= (n.1717-8978G=)
c.6616G= (p.Glu2206=)
c.4603G= (p.Glu1535=)
c.4153G= (p.Glu1385=)
c.3361G= (p.Glu1121=)
8g.60853251G>TCA371325601CHD7c.6526G>T (p.Glu2176Ter)
c.1717-8978G>T (n.1717-8978G>T)
c.6616G>T (p.Glu2206Ter)
c.4603G>T (p.Glu1535Ter)
c.4153G>T (p.Glu1385Ter)
c.3361G>T (p.Glu1121Ter)
8g.60853252A>CCA371325602CHD7c.6527A>C (p.Glu2176Ala)
c.1717-8977A>C (n.1717-8977A>C)
c.6617A>C (p.Glu2206Ala)
c.4604A>C (p.Glu1535Ala)
c.4154A>C (p.Glu1385Ala)
c.3362A>C (p.Glu1121Ala)
8g.60853252A>GCA371325604CHD7c.6527A>G (p.Glu2176Gly)
c.1717-8977A>G (n.1717-8977A>G)
c.6617A>G (p.Glu2206Gly)
c.4604A>G (p.Glu1535Gly)
c.4154A>G (p.Glu1385Gly)
c.3362A>G (p.Glu1121Gly)
 gnomAD v4
8g.60853252A>TCA371325606CHD7c.6527A>T (p.Glu2176Val)
c.1717-8977A>T (n.1717-8977A>T)
c.6617A>T (p.Glu2206Val)
c.4604A>T (p.Glu1535Val)
c.4154A>T (p.Glu1385Val)
c.3362A>T (p.Glu1121Val)
8g.60853253G>ACA461105109CHD7c.6528G>A (p.Glu2176=)
c.1717-8976G>A (n.1717-8976G>A)
c.6618G>A (p.Glu2206=)
c.4605G>A (p.Glu1535=)
c.4155G>A (p.Glu1385=)
c.3363G>A (p.Glu1121=)
8g.60853253G>CCA371325607CHD7c.6528G>C (p.Glu2176Asp)
c.1717-8976G>C (n.1717-8976G>C)
c.6618G>C (p.Glu2206Asp)
c.4605G>C (p.Glu1535Asp)
c.4155G>C (p.Glu1385Asp)
c.3363G>C (p.Glu1121Asp)
8g.60853253G>TCA371325609CHD7c.6528G>T (p.Glu2176Asp)
c.1717-8976G>T (n.1717-8976G>T)
c.6618G>T (p.Glu2206Asp)
c.4605G>T (p.Glu1535Asp)
c.4155G>T (p.Glu1385Asp)
c.3363G>T (p.Glu1121Asp)

Number of alleles fetched