Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.157200863_157200868delCA2680890694ARID1Bc.4479_4484del (p.Pro1494_Tyr1495del)
c.4548_4553del (p.Pro1517_Tyr1518del)
c.4767_4772del (p.Pro1590_Tyr1591del)
c.4518_4523del (p.Pro1507_Tyr1508del)
c.4230_4235del (p.Pro1411_Tyr1412del)
c.2796_2801del (p.Pro933_Tyr934del)
c.1959_1964del (p.Pro654_Tyr655del)
c.1590_1595del (p.Pro531_Tyr532del)
n.3101_3106del
n.558_563del
c.4638_4643del (p.Pro1547_Tyr1548del)
n.2635_2640del
c.2006_2011del
c.1920_1925del
n.1304_1309del
c.1980_1985del (p.Pro661_Tyr662del)
c.2139_2144del (p.Pro714_Tyr715del)
c.4269_4274del (p.Pro1424_Tyr1425del)
c.4389_4394del (p.Pro1464_Tyr1465del)
c.3468_3473del (p.Pro1157_Tyr1158del)
c.3288_3293del (p.Pro1097_Tyr1098del)
c.3048_3053del (p.Pro1017_Tyr1018del)
c.2667_2672del (p.Pro890_Tyr891del)
c.1530_1535del (p.Pro511_Tyr512del)
c.4599_4604del (p.Pro1534_Tyr1535del)
c.4500_4505del (p.Pro1501_Tyr1502del)
c.4470_4475del (p.Pro1491_Tyr1492del)
c.4440_4445del (p.Pro1481_Tyr1482del)
c.4311_4316del (p.Pro1438_Tyr1439del)
c.4290_4295del (p.Pro1431_Tyr1432del)
n.4585_4590del
gnomAD v4
6g.157200864C>ACA4067674ARID1Bc.4480C>A (p.Pro1494Thr)
c.4549C>A (p.Pro1517Thr)
c.4768C>A (p.Pro1590Thr)
c.4519C>A (p.Pro1507Thr)
c.4231C>A (p.Pro1411Thr)
c.2797C>A (p.Pro933Thr)
c.1960C>A (p.Pro654Thr)
c.1591C>A (p.Pro531Thr)
n.3102C>A
n.559C>A
c.4639C>A (p.Pro1547Thr)
n.2636C>A
c.2007C>A
c.1921C>A
n.1305C>A
c.1981C>A (p.Pro661Thr)
c.2140C>A (p.Pro714Thr)
c.4270C>A (p.Pro1424Thr)
c.4390C>A (p.Pro1464Thr)
c.3469C>A (p.Pro1157Thr)
c.3289C>A (p.Pro1097Thr)
c.3049C>A (p.Pro1017Thr)
c.2668C>A (p.Pro890Thr)
c.1531C>A (p.Pro511Thr)
c.4600C>A (p.Pro1534Thr)
c.4501C>A (p.Pro1501Thr)
c.4471C>A (p.Pro1491Thr)
c.4441C>A (p.Pro1481Thr)
c.4312C>A (p.Pro1438Thr)
c.4291C>A (p.Pro1431Thr)
n.4586C>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.157200864C=CA1675543118ARID1Bc.4480C= (p.Pro1494=)
c.4549C= (p.Pro1517=)
c.4768C= (p.Pro1590=)
c.4519C= (p.Pro1507=)
c.4231C= (p.Pro1411=)
c.2797C= (p.Pro933=)
c.1960C= (p.Pro654=)
c.1591C= (p.Pro531=)
n.3102C=
n.559C=
c.4639C= (p.Pro1547=)
n.2636C=
c.2007C=
c.1921C=
n.1305C=
c.1981C= (p.Pro661=)
c.2140C= (p.Pro714=)
c.4270C= (p.Pro1424=)
c.4390C= (p.Pro1464=)
c.3469C= (p.Pro1157=)
c.3289C= (p.Pro1097=)
c.3049C= (p.Pro1017=)
c.2668C= (p.Pro890=)
c.1531C= (p.Pro511=)
c.4600C= (p.Pro1534=)
c.4501C= (p.Pro1501=)
c.4471C= (p.Pro1491=)
c.4441C= (p.Pro1481=)
c.4312C= (p.Pro1438=)
c.4291C= (p.Pro1431=)
n.4586C=
6g.157200864C>GCA366241102ARID1Bc.4480C>G (p.Pro1494Ala)
c.4549C>G (p.Pro1517Ala)
c.4768C>G (p.Pro1590Ala)
c.4519C>G (p.Pro1507Ala)
c.4231C>G (p.Pro1411Ala)
c.2797C>G (p.Pro933Ala)
c.1960C>G (p.Pro654Ala)
c.1591C>G (p.Pro531Ala)
n.3102C>G
n.559C>G
c.4639C>G (p.Pro1547Ala)
n.2636C>G
c.2007C>G
c.1921C>G
n.1305C>G
c.1981C>G (p.Pro661Ala)
c.2140C>G (p.Pro714Ala)
c.4270C>G (p.Pro1424Ala)
c.4390C>G (p.Pro1464Ala)
c.3469C>G (p.Pro1157Ala)
c.3289C>G (p.Pro1097Ala)
c.3049C>G (p.Pro1017Ala)
c.2668C>G (p.Pro890Ala)
c.1531C>G (p.Pro511Ala)
c.4600C>G (p.Pro1534Ala)
c.4501C>G (p.Pro1501Ala)
c.4471C>G (p.Pro1491Ala)
c.4441C>G (p.Pro1481Ala)
c.4312C>G (p.Pro1438Ala)
c.4291C>G (p.Pro1431Ala)
n.4586C>G
6g.157200864C>TCA366241103ARID1Bc.4480C>T (p.Pro1494Ser)
c.4549C>T (p.Pro1517Ser)
c.4768C>T (p.Pro1590Ser)
c.4519C>T (p.Pro1507Ser)
c.4231C>T (p.Pro1411Ser)
c.2797C>T (p.Pro933Ser)
c.1960C>T (p.Pro654Ser)
c.1591C>T (p.Pro531Ser)
n.3102C>T
n.559C>T
c.4639C>T (p.Pro1547Ser)
n.2636C>T
c.2007C>T
c.1921C>T
n.1305C>T
c.1981C>T (p.Pro661Ser)
c.2140C>T (p.Pro714Ser)
c.4270C>T (p.Pro1424Ser)
c.4390C>T (p.Pro1464Ser)
c.3469C>T (p.Pro1157Ser)
c.3289C>T (p.Pro1097Ser)
c.3049C>T (p.Pro1017Ser)
c.2668C>T (p.Pro890Ser)
c.1531C>T (p.Pro511Ser)
c.4600C>T (p.Pro1534Ser)
c.4501C>T (p.Pro1501Ser)
c.4471C>T (p.Pro1491Ser)
c.4441C>T (p.Pro1481Ser)
c.4312C>T (p.Pro1438Ser)
c.4291C>T (p.Pro1431Ser)
n.4586C>T
6g.157200865C>ACA366241104ARID1Bc.4481C>A (p.Pro1494Gln)
c.4550C>A (p.Pro1517Gln)
c.4769C>A (p.Pro1590Gln)
c.4520C>A (p.Pro1507Gln)
c.4232C>A (p.Pro1411Gln)
c.2798C>A (p.Pro933Gln)
c.1961C>A (p.Pro654Gln)
c.1592C>A (p.Pro531Gln)
n.3103C>A
n.560C>A
c.4640C>A (p.Pro1547Gln)
n.2637C>A
c.2008C>A
c.1922C>A
n.1306C>A
c.1982C>A (p.Pro661Gln)
c.2141C>A (p.Pro714Gln)
c.4271C>A (p.Pro1424Gln)
c.4391C>A (p.Pro1464Gln)
c.3470C>A (p.Pro1157Gln)
c.3290C>A (p.Pro1097Gln)
c.3050C>A (p.Pro1017Gln)
c.2669C>A (p.Pro890Gln)
c.1532C>A (p.Pro511Gln)
c.4601C>A (p.Pro1534Gln)
c.4502C>A (p.Pro1501Gln)
c.4472C>A (p.Pro1491Gln)
c.4442C>A (p.Pro1481Gln)
c.4313C>A (p.Pro1438Gln)
c.4292C>A (p.Pro1431Gln)
n.4587C>A
dbSNP
6g.157200865C=CA1675543119ARID1Bc.4481C= (p.Pro1494=)
c.4550C= (p.Pro1517=)
c.4769C= (p.Pro1590=)
c.4520C= (p.Pro1507=)
c.4232C= (p.Pro1411=)
c.2798C= (p.Pro933=)
c.1961C= (p.Pro654=)
c.1592C= (p.Pro531=)
n.3103C=
n.560C=
c.4640C= (p.Pro1547=)
n.2637C=
c.2008C=
c.1922C=
n.1306C=
c.1982C= (p.Pro661=)
c.2141C= (p.Pro714=)
c.4271C= (p.Pro1424=)
c.4391C= (p.Pro1464=)
c.3470C= (p.Pro1157=)
c.3290C= (p.Pro1097=)
c.3050C= (p.Pro1017=)
c.2669C= (p.Pro890=)
c.1532C= (p.Pro511=)
c.4601C= (p.Pro1534=)
c.4502C= (p.Pro1501=)
c.4472C= (p.Pro1491=)
c.4442C= (p.Pro1481=)
c.4313C= (p.Pro1438=)
c.4292C= (p.Pro1431=)
n.4587C=
6g.157200865C>GCA366241105ARID1Bc.4481C>G (p.Pro1494Arg)
c.4550C>G (p.Pro1517Arg)
c.4769C>G (p.Pro1590Arg)
c.4520C>G (p.Pro1507Arg)
c.4232C>G (p.Pro1411Arg)
c.2798C>G (p.Pro933Arg)
c.1961C>G (p.Pro654Arg)
c.1592C>G (p.Pro531Arg)
n.3103C>G
n.560C>G
c.4640C>G (p.Pro1547Arg)
n.2637C>G
c.2008C>G
c.1922C>G
n.1306C>G
c.1982C>G (p.Pro661Arg)
c.2141C>G (p.Pro714Arg)
c.4271C>G (p.Pro1424Arg)
c.4391C>G (p.Pro1464Arg)
c.3470C>G (p.Pro1157Arg)
c.3290C>G (p.Pro1097Arg)
c.3050C>G (p.Pro1017Arg)
c.2669C>G (p.Pro890Arg)
c.1532C>G (p.Pro511Arg)
c.4601C>G (p.Pro1534Arg)
c.4502C>G (p.Pro1501Arg)
c.4472C>G (p.Pro1491Arg)
c.4442C>G (p.Pro1481Arg)
c.4313C>G (p.Pro1438Arg)
c.4292C>G (p.Pro1431Arg)
n.4587C>G
6g.157200865C>TCA366241106ARID1Bc.4481C>T (p.Pro1494Leu)
c.4550C>T (p.Pro1517Leu)
c.4769C>T (p.Pro1590Leu)
c.4520C>T (p.Pro1507Leu)
c.4232C>T (p.Pro1411Leu)
c.2798C>T (p.Pro933Leu)
c.1961C>T (p.Pro654Leu)
c.1592C>T (p.Pro531Leu)
n.3103C>T
n.560C>T
c.4640C>T (p.Pro1547Leu)
n.2637C>T
c.2008C>T
c.1922C>T
n.1306C>T
c.1982C>T (p.Pro661Leu)
c.2141C>T (p.Pro714Leu)
c.4271C>T (p.Pro1424Leu)
c.4391C>T (p.Pro1464Leu)
c.3470C>T (p.Pro1157Leu)
c.3290C>T (p.Pro1097Leu)
c.3050C>T (p.Pro1017Leu)
c.2669C>T (p.Pro890Leu)
c.1532C>T (p.Pro511Leu)
c.4601C>T (p.Pro1534Leu)
c.4502C>T (p.Pro1501Leu)
c.4472C>T (p.Pro1491Leu)
c.4442C>T (p.Pro1481Leu)
c.4313C>T (p.Pro1438Leu)
c.4292C>T (p.Pro1431Leu)
n.4587C>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
6g.157200866delCA2695207263ARID1Bc.4482del (p.Tyr1495IlefsTer23)
c.4551del (p.Tyr1518IlefsTer23)
c.4770del (p.Tyr1591IlefsTer23)
c.4521del (p.Tyr1508IlefsTer23)
c.4233del (p.Tyr1412IlefsTer23)
c.2799del (p.Tyr934IlefsTer23)
c.1962del (p.Tyr655IlefsTer23)
c.1593del (p.Tyr532IlefsTer23)
n.3104del
n.561del
c.4641del (p.Tyr1548IlefsTer23)
n.2638del
c.2009del
c.1923del
n.1307del
c.1983del (p.Tyr662IlefsTer23)
c.2142del (p.Tyr715IlefsTer23)
c.4272del (p.Tyr1425IlefsTer23)
c.4392del (p.Tyr1465IlefsTer23)
c.3471del (p.Tyr1158IlefsTer23)
c.3291del (p.Tyr1098IlefsTer23)
c.3051del (p.Tyr1018IlefsTer23)
c.2670del (p.Tyr891IlefsTer23)
c.1533del (p.Tyr512IlefsTer23)
c.4602del (p.Tyr1535IlefsTer23)
c.4503del (p.Tyr1502IlefsTer23)
c.4473del (p.Tyr1492IlefsTer23)
c.4443del (p.Tyr1482IlefsTer23)
c.4314del (p.Tyr1439IlefsTer23)
c.4293del (p.Tyr1432IlefsTer23)
n.4588del
6g.157200866G>ACA4067676ARID1Bc.4482G>A (p.Pro1494=)
c.4551G>A (p.Pro1517=)
c.4770G>A (p.Pro1590=)
c.4521G>A (p.Pro1507=)
c.4233G>A (p.Pro1411=)
c.2799G>A (p.Pro933=)
c.1962G>A (p.Pro654=)
c.1593G>A (p.Pro531=)
n.3104G>A
n.561G>A
c.4641G>A (p.Pro1547=)
n.2638G>A
c.2009G>A
c.1923G>A
n.1307G>A
c.1983G>A (p.Pro661=)
c.2142G>A (p.Pro714=)
c.4272G>A (p.Pro1424=)
c.4392G>A (p.Pro1464=)
c.3471G>A (p.Pro1157=)
c.3291G>A (p.Pro1097=)
c.3051G>A (p.Pro1017=)
c.2670G>A (p.Pro890=)
c.1533G>A (p.Pro511=)
c.4602G>A (p.Pro1534=)
c.4503G>A (p.Pro1501=)
c.4473G>A (p.Pro1491=)
c.4443G>A (p.Pro1481=)
c.4314G>A (p.Pro1438=)
c.4293G>A (p.Pro1431=)
n.4588G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.157200866G>CCA4067675ARID1Bc.4482G>C (p.Pro1494=)
c.4551G>C (p.Pro1517=)
c.4770G>C (p.Pro1590=)
c.4521G>C (p.Pro1507=)
c.4233G>C (p.Pro1411=)
c.2799G>C (p.Pro933=)
c.1962G>C (p.Pro654=)
c.1593G>C (p.Pro531=)
n.3104G>C
n.561G>C
c.4641G>C (p.Pro1547=)
n.2638G>C
c.2009G>C
c.1923G>C
n.1307G>C
c.1983G>C (p.Pro661=)
c.2142G>C (p.Pro714=)
c.4272G>C (p.Pro1424=)
c.4392G>C (p.Pro1464=)
c.3471G>C (p.Pro1157=)
c.3291G>C (p.Pro1097=)
c.3051G>C (p.Pro1017=)
c.2670G>C (p.Pro890=)
c.1533G>C (p.Pro511=)
c.4602G>C (p.Pro1534=)
c.4503G>C (p.Pro1501=)
c.4473G>C (p.Pro1491=)
c.4443G>C (p.Pro1481=)
c.4314G>C (p.Pro1438=)
c.4293G>C (p.Pro1431=)
n.4588G>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.157200866G=CA1675543120ARID1Bc.4482G= (p.Pro1494=)
c.4551G= (p.Pro1517=)
c.4770G= (p.Pro1590=)
c.4521G= (p.Pro1507=)
c.4233G= (p.Pro1411=)
c.2799G= (p.Pro933=)
c.1962G= (p.Pro654=)
c.1593G= (p.Pro531=)
n.3104G=
n.561G=
c.4641G= (p.Pro1547=)
n.2638G=
c.2009G=
c.1923G=
n.1307G=
c.1983G= (p.Pro661=)
c.2142G= (p.Pro714=)
c.4272G= (p.Pro1424=)
c.4392G= (p.Pro1464=)
c.3471G= (p.Pro1157=)
c.3291G= (p.Pro1097=)
c.3051G= (p.Pro1017=)
c.2670G= (p.Pro890=)
c.1533G= (p.Pro511=)
c.4602G= (p.Pro1534=)
c.4503G= (p.Pro1501=)
c.4473G= (p.Pro1491=)
c.4443G= (p.Pro1481=)
c.4314G= (p.Pro1438=)
c.4293G= (p.Pro1431=)
n.4588G=
6g.157200866G>TCA452977864ARID1Bc.4482G>T (p.Pro1494=)
c.4551G>T (p.Pro1517=)
c.4770G>T (p.Pro1590=)
c.4521G>T (p.Pro1507=)
c.4233G>T (p.Pro1411=)
c.2799G>T (p.Pro933=)
c.1962G>T (p.Pro654=)
c.1593G>T (p.Pro531=)
n.3104G>T
n.561G>T
c.4641G>T (p.Pro1547=)
n.2638G>T
c.2009G>T
c.1923G>T
n.1307G>T
c.1983G>T (p.Pro661=)
c.2142G>T (p.Pro714=)
c.4272G>T (p.Pro1424=)
c.4392G>T (p.Pro1464=)
c.3471G>T (p.Pro1157=)
c.3291G>T (p.Pro1097=)
c.3051G>T (p.Pro1017=)
c.2670G>T (p.Pro890=)
c.1533G>T (p.Pro511=)
c.4602G>T (p.Pro1534=)
c.4503G>T (p.Pro1501=)
c.4473G>T (p.Pro1491=)
c.4443G>T (p.Pro1481=)
c.4314G>T (p.Pro1438=)
c.4293G>T (p.Pro1431=)
n.4588G>T
dbSNP gnomAD v4
6g.157200867T>ACA366241107ARID1Bc.4483T>A (p.Tyr1495Asn)
c.4552T>A (p.Tyr1518Asn)
c.4771T>A (p.Tyr1591Asn)
c.4522T>A (p.Tyr1508Asn)
c.4234T>A (p.Tyr1412Asn)
c.2800T>A (p.Tyr934Asn)
c.1963T>A (p.Tyr655Asn)
c.1594T>A (p.Tyr532Asn)
n.3105T>A
n.562T>A
c.4642T>A (p.Tyr1548Asn)
n.2639T>A
c.2010T>A
c.1924T>A
n.1308T>A
c.1984T>A (p.Tyr662Asn)
c.2143T>A (p.Tyr715Asn)
c.4273T>A (p.Tyr1425Asn)
c.4393T>A (p.Tyr1465Asn)
c.3472T>A (p.Tyr1158Asn)
c.3292T>A (p.Tyr1098Asn)
c.3052T>A (p.Tyr1018Asn)
c.2671T>A (p.Tyr891Asn)
c.1534T>A (p.Tyr512Asn)
c.4603T>A (p.Tyr1535Asn)
c.4504T>A (p.Tyr1502Asn)
c.4474T>A (p.Tyr1492Asn)
c.4444T>A (p.Tyr1482Asn)
c.4315T>A (p.Tyr1439Asn)
c.4294T>A (p.Tyr1432Asn)
n.4589T>A
6g.157200867T>CCA366241109ARID1Bc.4483T>C (p.Tyr1495His)
c.4552T>C (p.Tyr1518His)
c.4771T>C (p.Tyr1591His)
c.4522T>C (p.Tyr1508His)
c.4234T>C (p.Tyr1412His)
c.2800T>C (p.Tyr934His)
c.1963T>C (p.Tyr655His)
c.1594T>C (p.Tyr532His)
n.3105T>C
n.562T>C
c.4642T>C (p.Tyr1548His)
n.2639T>C
c.2010T>C
c.1924T>C
n.1308T>C
c.1984T>C (p.Tyr662His)
c.2143T>C (p.Tyr715His)
c.4273T>C (p.Tyr1425His)
c.4393T>C (p.Tyr1465His)
c.3472T>C (p.Tyr1158His)
c.3292T>C (p.Tyr1098His)
c.3052T>C (p.Tyr1018His)
c.2671T>C (p.Tyr891His)
c.1534T>C (p.Tyr512His)
c.4603T>C (p.Tyr1535His)
c.4504T>C (p.Tyr1502His)
c.4474T>C (p.Tyr1492His)
c.4444T>C (p.Tyr1482His)
c.4315T>C (p.Tyr1439His)
c.4294T>C (p.Tyr1432His)
n.4589T>C
gnomAD v4
6g.157200867T>GCA366241108ARID1Bc.4483T>G (p.Tyr1495Asp)
c.4552T>G (p.Tyr1518Asp)
c.4771T>G (p.Tyr1591Asp)
c.4522T>G (p.Tyr1508Asp)
c.4234T>G (p.Tyr1412Asp)
c.2800T>G (p.Tyr934Asp)
c.1963T>G (p.Tyr655Asp)
c.1594T>G (p.Tyr532Asp)
n.3105T>G
n.562T>G
c.4642T>G (p.Tyr1548Asp)
n.2639T>G
c.2010T>G
c.1924T>G
n.1308T>G
c.1984T>G (p.Tyr662Asp)
c.2143T>G (p.Tyr715Asp)
c.4273T>G (p.Tyr1425Asp)
c.4393T>G (p.Tyr1465Asp)
c.3472T>G (p.Tyr1158Asp)
c.3292T>G (p.Tyr1098Asp)
c.3052T>G (p.Tyr1018Asp)
c.2671T>G (p.Tyr891Asp)
c.1534T>G (p.Tyr512Asp)
c.4603T>G (p.Tyr1535Asp)
c.4504T>G (p.Tyr1502Asp)
c.4474T>G (p.Tyr1492Asp)
c.4444T>G (p.Tyr1482Asp)
c.4315T>G (p.Tyr1439Asp)
c.4294T>G (p.Tyr1432Asp)
n.4589T>G
6g.157200867dupCA10584014ARID1Bc.4483dup (p.Tyr1495LeufsTer?)
c.4552dup (p.Tyr1518LeufsTer?)
c.4771dup (p.Tyr1591LeufsTer?)
c.4522dup (p.Tyr1508LeufsTer?)
c.4234dup (p.Tyr1412LeufsTer?)
c.2800dup (p.Tyr934LeufsTer?)
c.1963dup (p.Tyr655LeufsTer?)
c.1594dup (p.Tyr532LeufsTer?)
n.3105dup
n.562dup
c.4642dup (p.Tyr1548LeufsTer?)
n.2639dup
c.2010dup
c.1924dup
n.1308dup
c.1984dup (p.Tyr662LeufsTer?)
c.2143dup (p.Tyr715LeufsTer?)
c.4273dup (p.Tyr1425LeufsTer?)
c.4393dup (p.Tyr1465LeufsTer?)
c.3472dup (p.Tyr1158LeufsTer?)
c.3292dup (p.Tyr1098LeufsTer?)
c.3052dup (p.Tyr1018LeufsTer?)
c.2671dup (p.Tyr891LeufsTer?)
c.1534dup (p.Tyr512LeufsTer?)
c.4603dup (p.Tyr1535LeufsTer?)
c.4504dup (p.Tyr1502LeufsTer?)
c.4474dup (p.Tyr1492LeufsTer?)
c.4444dup (p.Tyr1482LeufsTer?)
c.4315dup (p.Tyr1439LeufsTer?)
c.4294dup (p.Tyr1432LeufsTer?)
n.4589dup
ClinVar dbSNP
6g.157200868A>CCA366241110ARID1Bc.4484A>C (p.Tyr1495Ser)
c.4553A>C (p.Tyr1518Ser)
c.4772A>C (p.Tyr1591Ser)
c.4523A>C (p.Tyr1508Ser)
c.4235A>C (p.Tyr1412Ser)
c.2801A>C (p.Tyr934Ser)
c.1964A>C (p.Tyr655Ser)
c.1595A>C (p.Tyr532Ser)
n.3106A>C
n.563A>C
c.4643A>C (p.Tyr1548Ser)
n.2640A>C
c.2011A>C
c.1925A>C
n.1309A>C
c.1985A>C (p.Tyr662Ser)
c.2144A>C (p.Tyr715Ser)
c.4274A>C (p.Tyr1425Ser)
c.4394A>C (p.Tyr1465Ser)
c.3473A>C (p.Tyr1158Ser)
c.3293A>C (p.Tyr1098Ser)
c.3053A>C (p.Tyr1018Ser)
c.2672A>C (p.Tyr891Ser)
c.1535A>C (p.Tyr512Ser)
c.4604A>C (p.Tyr1535Ser)
c.4505A>C (p.Tyr1502Ser)
c.4475A>C (p.Tyr1492Ser)
c.4445A>C (p.Tyr1482Ser)
c.4316A>C (p.Tyr1439Ser)
c.4295A>C (p.Tyr1432Ser)
n.4590A>C
6g.157200868A>GCA366241112ARID1Bc.4484A>G (p.Tyr1495Cys)
c.4553A>G (p.Tyr1518Cys)
c.4772A>G (p.Tyr1591Cys)
c.4523A>G (p.Tyr1508Cys)
c.4235A>G (p.Tyr1412Cys)
c.2801A>G (p.Tyr934Cys)
c.1964A>G (p.Tyr655Cys)
c.1595A>G (p.Tyr532Cys)
n.3106A>G
n.563A>G
c.4643A>G (p.Tyr1548Cys)
n.2640A>G
c.2011A>G
c.1925A>G
n.1309A>G
c.1985A>G (p.Tyr662Cys)
c.2144A>G (p.Tyr715Cys)
c.4274A>G (p.Tyr1425Cys)
c.4394A>G (p.Tyr1465Cys)
c.3473A>G (p.Tyr1158Cys)
c.3293A>G (p.Tyr1098Cys)
c.3053A>G (p.Tyr1018Cys)
c.2672A>G (p.Tyr891Cys)
c.1535A>G (p.Tyr512Cys)
c.4604A>G (p.Tyr1535Cys)
c.4505A>G (p.Tyr1502Cys)
c.4475A>G (p.Tyr1492Cys)
c.4445A>G (p.Tyr1482Cys)
c.4316A>G (p.Tyr1439Cys)
c.4295A>G (p.Tyr1432Cys)
n.4590A>G
6g.157200868A>TCA366241111ARID1Bc.4484A>T (p.Tyr1495Phe)
c.4553A>T (p.Tyr1518Phe)
c.4772A>T (p.Tyr1591Phe)
c.4523A>T (p.Tyr1508Phe)
c.4235A>T (p.Tyr1412Phe)
c.2801A>T (p.Tyr934Phe)
c.1964A>T (p.Tyr655Phe)
c.1595A>T (p.Tyr532Phe)
n.3106A>T
n.563A>T
c.4643A>T (p.Tyr1548Phe)
n.2640A>T
c.2011A>T
c.1925A>T
n.1309A>T
c.1985A>T (p.Tyr662Phe)
c.2144A>T (p.Tyr715Phe)
c.4274A>T (p.Tyr1425Phe)
c.4394A>T (p.Tyr1465Phe)
c.3473A>T (p.Tyr1158Phe)
c.3293A>T (p.Tyr1098Phe)
c.3053A>T (p.Tyr1018Phe)
c.2672A>T (p.Tyr891Phe)
c.1535A>T (p.Tyr512Phe)
c.4604A>T (p.Tyr1535Phe)
c.4505A>T (p.Tyr1502Phe)
c.4475A>T (p.Tyr1492Phe)
c.4445A>T (p.Tyr1482Phe)
c.4316A>T (p.Tyr1439Phe)
c.4295A>T (p.Tyr1432Phe)
n.4590A>T
6g.157200869T>ACA366241113ARID1Bc.4485T>A (p.Tyr1495Ter)
c.4554T>A (p.Tyr1518Ter)
c.4773T>A (p.Tyr1591Ter)
c.4524T>A (p.Tyr1508Ter)
c.4236T>A (p.Tyr1412Ter)
c.2802T>A (p.Tyr934Ter)
c.1965T>A (p.Tyr655Ter)
c.1596T>A (p.Tyr532Ter)
n.3107T>A
n.564T>A
c.4644T>A (p.Tyr1548Ter)
n.2641T>A
c.2012T>A
c.1926T>A
n.1310T>A
c.1986T>A (p.Tyr662Ter)
c.2145T>A (p.Tyr715Ter)
c.4275T>A (p.Tyr1425Ter)
c.4395T>A (p.Tyr1465Ter)
c.3474T>A (p.Tyr1158Ter)
c.3294T>A (p.Tyr1098Ter)
c.3054T>A (p.Tyr1018Ter)
c.2673T>A (p.Tyr891Ter)
c.1536T>A (p.Tyr512Ter)
c.4605T>A (p.Tyr1535Ter)
c.4506T>A (p.Tyr1502Ter)
c.4476T>A (p.Tyr1492Ter)
c.4446T>A (p.Tyr1482Ter)
c.4317T>A (p.Tyr1439Ter)
c.4296T>A (p.Tyr1432Ter)
n.4591T>A
6g.157200869T>CCA452977874ARID1Bc.4485T>C (p.Tyr1495=)
c.4554T>C (p.Tyr1518=)
c.4773T>C (p.Tyr1591=)
c.4524T>C (p.Tyr1508=)
c.4236T>C (p.Tyr1412=)
c.2802T>C (p.Tyr934=)
c.1965T>C (p.Tyr655=)
c.1596T>C (p.Tyr532=)
n.3107T>C
n.564T>C
c.4644T>C (p.Tyr1548=)
n.2641T>C
c.2012T>C
c.1926T>C
n.1310T>C
c.1986T>C (p.Tyr662=)
c.2145T>C (p.Tyr715=)
c.4275T>C (p.Tyr1425=)
c.4395T>C (p.Tyr1465=)
c.3474T>C (p.Tyr1158=)
c.3294T>C (p.Tyr1098=)
c.3054T>C (p.Tyr1018=)
c.2673T>C (p.Tyr891=)
c.1536T>C (p.Tyr512=)
c.4605T>C (p.Tyr1535=)
c.4506T>C (p.Tyr1502=)
c.4476T>C (p.Tyr1492=)
c.4446T>C (p.Tyr1482=)
c.4317T>C (p.Tyr1439=)
c.4296T>C (p.Tyr1432=)
n.4591T>C
6g.157200869T>GCA366241114ARID1Bc.4485T>G (p.Tyr1495Ter)
c.4554T>G (p.Tyr1518Ter)
c.4773T>G (p.Tyr1591Ter)
c.4524T>G (p.Tyr1508Ter)
c.4236T>G (p.Tyr1412Ter)
c.2802T>G (p.Tyr934Ter)
c.1965T>G (p.Tyr655Ter)
c.1596T>G (p.Tyr532Ter)
n.3107T>G
n.564T>G
c.4644T>G (p.Tyr1548Ter)
n.2641T>G
c.2012T>G
c.1926T>G
n.1310T>G
c.1986T>G (p.Tyr662Ter)
c.2145T>G (p.Tyr715Ter)
c.4275T>G (p.Tyr1425Ter)
c.4395T>G (p.Tyr1465Ter)
c.3474T>G (p.Tyr1158Ter)
c.3294T>G (p.Tyr1098Ter)
c.3054T>G (p.Tyr1018Ter)
c.2673T>G (p.Tyr891Ter)
c.1536T>G (p.Tyr512Ter)
c.4605T>G (p.Tyr1535Ter)
c.4506T>G (p.Tyr1502Ter)
c.4476T>G (p.Tyr1492Ter)
c.4446T>G (p.Tyr1482Ter)
c.4317T>G (p.Tyr1439Ter)
c.4296T>G (p.Tyr1432Ter)
n.4591T>G
6g.157200870C>ACA366241115ARID1Bc.4486C>A (p.Pro1496Thr)
c.4555C>A (p.Pro1519Thr)
c.4774C>A (p.Pro1592Thr)
c.4525C>A (p.Pro1509Thr)
c.4237C>A (p.Pro1413Thr)
c.2803C>A (p.Pro935Thr)
c.1966C>A (p.Pro656Thr)
c.1597C>A (p.Pro533Thr)
n.3108C>A
n.565C>A
c.4645C>A (p.Pro1549Thr)
n.2642C>A
c.2013C>A
c.1927C>A
n.1311C>A
c.1987C>A (p.Pro663Thr)
c.2146C>A (p.Pro716Thr)
c.4276C>A (p.Pro1426Thr)
c.4396C>A (p.Pro1466Thr)
c.3475C>A (p.Pro1159Thr)
c.3295C>A (p.Pro1099Thr)
c.3055C>A (p.Pro1019Thr)
c.2674C>A (p.Pro892Thr)
c.1537C>A (p.Pro513Thr)
c.4606C>A (p.Pro1536Thr)
c.4507C>A (p.Pro1503Thr)
c.4477C>A (p.Pro1493Thr)
c.4447C>A (p.Pro1483Thr)
c.4318C>A (p.Pro1440Thr)
c.4297C>A (p.Pro1433Thr)
n.4592C>A
dbSNP gnomAD v4
6g.157200870C=CA1675543121ARID1Bc.4486C= (p.Pro1496=)
c.4555C= (p.Pro1519=)
c.4774C= (p.Pro1592=)
c.4525C= (p.Pro1509=)
c.4237C= (p.Pro1413=)
c.2803C= (p.Pro935=)
c.1966C= (p.Pro656=)
c.1597C= (p.Pro533=)
n.3108C=
n.565C=
c.4645C= (p.Pro1549=)
n.2642C=
c.2013C=
c.1927C=
n.1311C=
c.1987C= (p.Pro663=)
c.2146C= (p.Pro716=)
c.4276C= (p.Pro1426=)
c.4396C= (p.Pro1466=)
c.3475C= (p.Pro1159=)
c.3295C= (p.Pro1099=)
c.3055C= (p.Pro1019=)
c.2674C= (p.Pro892=)
c.1537C= (p.Pro513=)
c.4606C= (p.Pro1536=)
c.4507C= (p.Pro1503=)
c.4477C= (p.Pro1493=)
c.4447C= (p.Pro1483=)
c.4318C= (p.Pro1440=)
c.4297C= (p.Pro1433=)
n.4592C=
6g.157200870C>GCA366241116ARID1Bc.4486C>G (p.Pro1496Ala)
c.4555C>G (p.Pro1519Ala)
c.4774C>G (p.Pro1592Ala)
c.4525C>G (p.Pro1509Ala)
c.4237C>G (p.Pro1413Ala)
c.2803C>G (p.Pro935Ala)
c.1966C>G (p.Pro656Ala)
c.1597C>G (p.Pro533Ala)
n.3108C>G
n.565C>G
c.4645C>G (p.Pro1549Ala)
n.2642C>G
c.2013C>G
c.1927C>G
n.1311C>G
c.1987C>G (p.Pro663Ala)
c.2146C>G (p.Pro716Ala)
c.4276C>G (p.Pro1426Ala)
c.4396C>G (p.Pro1466Ala)
c.3475C>G (p.Pro1159Ala)
c.3295C>G (p.Pro1099Ala)
c.3055C>G (p.Pro1019Ala)
c.2674C>G (p.Pro892Ala)
c.1537C>G (p.Pro513Ala)
c.4606C>G (p.Pro1536Ala)
c.4507C>G (p.Pro1503Ala)
c.4477C>G (p.Pro1493Ala)
c.4447C>G (p.Pro1483Ala)
c.4318C>G (p.Pro1440Ala)
c.4297C>G (p.Pro1433Ala)
n.4592C>G
6g.157200870C>TCA150369841ARID1Bc.4486C>T (p.Pro1496Ser)
c.4555C>T (p.Pro1519Ser)
c.4774C>T (p.Pro1592Ser)
c.4525C>T (p.Pro1509Ser)
c.4237C>T (p.Pro1413Ser)
c.2803C>T (p.Pro935Ser)
c.1966C>T (p.Pro656Ser)
c.1597C>T (p.Pro533Ser)
n.3108C>T
n.565C>T
c.4645C>T (p.Pro1549Ser)
n.2642C>T
c.2013C>T
c.1927C>T
n.1311C>T
c.1987C>T (p.Pro663Ser)
c.2146C>T (p.Pro716Ser)
c.4276C>T (p.Pro1426Ser)
c.4396C>T (p.Pro1466Ser)
c.3475C>T (p.Pro1159Ser)
c.3295C>T (p.Pro1099Ser)
c.3055C>T (p.Pro1019Ser)
c.2674C>T (p.Pro892Ser)
c.1537C>T (p.Pro513Ser)
c.4606C>T (p.Pro1536Ser)
c.4507C>T (p.Pro1503Ser)
c.4477C>T (p.Pro1493Ser)
c.4447C>T (p.Pro1483Ser)
c.4318C>T (p.Pro1440Ser)
c.4297C>T (p.Pro1433Ser)
n.4592C>T
dbSNP gnomAD v4
6g.157200872delCA2580075311ARID1Bc.4488del (p.Tyr1497ThrfsTer21)
c.4557del (p.Tyr1520ThrfsTer21)
c.4776del (p.Tyr1593ThrfsTer21)
c.4527del (p.Tyr1510ThrfsTer21)
c.4239del (p.Tyr1414ThrfsTer21)
c.2805del (p.Tyr936ThrfsTer21)
c.1968del (p.Tyr657ThrfsTer21)
c.1599del (p.Tyr534ThrfsTer21)
n.3110del
n.567del
c.4647del (p.Tyr1550ThrfsTer21)
n.2644del
c.2015del
c.1929del
n.1313del
c.1989del (p.Tyr664ThrfsTer21)
c.2148del (p.Tyr717ThrfsTer21)
c.4278del (p.Tyr1427ThrfsTer21)
c.4398del (p.Tyr1467ThrfsTer21)
c.3477del (p.Tyr1160ThrfsTer21)
c.3297del (p.Tyr1100ThrfsTer21)
c.3057del (p.Tyr1020ThrfsTer21)
c.2676del (p.Tyr893ThrfsTer21)
c.1539del (p.Tyr514ThrfsTer21)
c.4608del (p.Tyr1537ThrfsTer21)
c.4509del (p.Tyr1504ThrfsTer21)
c.4479del (p.Tyr1494ThrfsTer21)
c.4449del (p.Tyr1484ThrfsTer21)
c.4320del (p.Tyr1441ThrfsTer21)
c.4299del (p.Tyr1434ThrfsTer21)
n.4594del
ClinVar
6g.157200871C>ACA366241117ARID1Bc.4487C>A (p.Pro1496His)
c.4556C>A (p.Pro1519His)
c.4775C>A (p.Pro1592His)
c.4526C>A (p.Pro1509His)
c.4238C>A (p.Pro1413His)
c.2804C>A (p.Pro935His)
c.1967C>A (p.Pro656His)
c.1598C>A (p.Pro533His)
n.3109C>A
n.566C>A
c.4646C>A (p.Pro1549His)
n.2643C>A
c.2014C>A
c.1928C>A
n.1312C>A
c.1988C>A (p.Pro663His)
c.2147C>A (p.Pro716His)
c.4277C>A (p.Pro1426His)
c.4397C>A (p.Pro1466His)
c.3476C>A (p.Pro1159His)
c.3296C>A (p.Pro1099His)
c.3056C>A (p.Pro1019His)
c.2675C>A (p.Pro892His)
c.1538C>A (p.Pro513His)
c.4607C>A (p.Pro1536His)
c.4508C>A (p.Pro1503His)
c.4478C>A (p.Pro1493His)
c.4448C>A (p.Pro1483His)
c.4319C>A (p.Pro1440His)
c.4298C>A (p.Pro1433His)
n.4593C>A
6g.157200871C=CA1675543122ARID1Bc.4487C= (p.Pro1496=)
c.4556C= (p.Pro1519=)
c.4775C= (p.Pro1592=)
c.4526C= (p.Pro1509=)
c.4238C= (p.Pro1413=)
c.2804C= (p.Pro935=)
c.1967C= (p.Pro656=)
c.1598C= (p.Pro533=)
n.3109C=
n.566C=
c.4646C= (p.Pro1549=)
n.2643C=
c.2014C=
c.1928C=
n.1312C=
c.1988C= (p.Pro663=)
c.2147C= (p.Pro716=)
c.4277C= (p.Pro1426=)
c.4397C= (p.Pro1466=)
c.3476C= (p.Pro1159=)
c.3296C= (p.Pro1099=)
c.3056C= (p.Pro1019=)
c.2675C= (p.Pro892=)
c.1538C= (p.Pro513=)
c.4607C= (p.Pro1536=)
c.4508C= (p.Pro1503=)
c.4478C= (p.Pro1493=)
c.4448C= (p.Pro1483=)
c.4319C= (p.Pro1440=)
c.4298C= (p.Pro1433=)
n.4593C=
6g.157200871C>GCA366241118ARID1Bc.4487C>G (p.Pro1496Arg)
c.4556C>G (p.Pro1519Arg)
c.4775C>G (p.Pro1592Arg)
c.4526C>G (p.Pro1509Arg)
c.4238C>G (p.Pro1413Arg)
c.2804C>G (p.Pro935Arg)
c.1967C>G (p.Pro656Arg)
c.1598C>G (p.Pro533Arg)
n.3109C>G
n.566C>G
c.4646C>G (p.Pro1549Arg)
n.2643C>G
c.2014C>G
c.1928C>G
n.1312C>G
c.1988C>G (p.Pro663Arg)
c.2147C>G (p.Pro716Arg)
c.4277C>G (p.Pro1426Arg)
c.4397C>G (p.Pro1466Arg)
c.3476C>G (p.Pro1159Arg)
c.3296C>G (p.Pro1099Arg)
c.3056C>G (p.Pro1019Arg)
c.2675C>G (p.Pro892Arg)
c.1538C>G (p.Pro513Arg)
c.4607C>G (p.Pro1536Arg)
c.4508C>G (p.Pro1503Arg)
c.4478C>G (p.Pro1493Arg)
c.4448C>G (p.Pro1483Arg)
c.4319C>G (p.Pro1440Arg)
c.4298C>G (p.Pro1433Arg)
n.4593C>G
6g.157200871C>TCA4067677ARID1Bc.4487C>T (p.Pro1496Leu)
c.4556C>T (p.Pro1519Leu)
c.4775C>T (p.Pro1592Leu)
c.4526C>T (p.Pro1509Leu)
c.4238C>T (p.Pro1413Leu)
c.2804C>T (p.Pro935Leu)
c.1967C>T (p.Pro656Leu)
c.1598C>T (p.Pro533Leu)
n.3109C>T
n.566C>T
c.4646C>T (p.Pro1549Leu)
n.2643C>T
c.2014C>T
c.1928C>T
n.1312C>T
c.1988C>T (p.Pro663Leu)
c.2147C>T (p.Pro716Leu)
c.4277C>T (p.Pro1426Leu)
c.4397C>T (p.Pro1466Leu)
c.3476C>T (p.Pro1159Leu)
c.3296C>T (p.Pro1099Leu)
c.3056C>T (p.Pro1019Leu)
c.2675C>T (p.Pro892Leu)
c.1538C>T (p.Pro513Leu)
c.4607C>T (p.Pro1536Leu)
c.4508C>T (p.Pro1503Leu)
c.4478C>T (p.Pro1493Leu)
c.4448C>T (p.Pro1483Leu)
c.4319C>T (p.Pro1440Leu)
c.4298C>T (p.Pro1433Leu)
n.4593C>T
dbSNP ExAC gnomAD v2 gnomAD v4
6g.157200872C>ACA452977882ARID1Bc.4488C>A (p.Pro1496=)
c.4557C>A (p.Pro1519=)
c.4776C>A (p.Pro1592=)
c.4527C>A (p.Pro1509=)
c.4239C>A (p.Pro1413=)
c.2805C>A (p.Pro935=)
c.1968C>A (p.Pro656=)
c.1599C>A (p.Pro533=)
n.3110C>A
n.567C>A
c.4647C>A (p.Pro1549=)
n.2644C>A
c.2015C>A
c.1929C>A
n.1313C>A
c.1989C>A (p.Pro663=)
c.2148C>A (p.Pro716=)
c.4278C>A (p.Pro1426=)
c.4398C>A (p.Pro1466=)
c.3477C>A (p.Pro1159=)
c.3297C>A (p.Pro1099=)
c.3057C>A (p.Pro1019=)
c.2676C>A (p.Pro892=)
c.1539C>A (p.Pro513=)
c.4608C>A (p.Pro1536=)
c.4509C>A (p.Pro1503=)
c.4479C>A (p.Pro1493=)
c.4449C>A (p.Pro1483=)
c.4320C>A (p.Pro1440=)
c.4299C>A (p.Pro1433=)
n.4594C>A
6g.157200872C>GCA452977885ARID1Bc.4488C>G (p.Pro1496=)
c.4557C>G (p.Pro1519=)
c.4776C>G (p.Pro1592=)
c.4527C>G (p.Pro1509=)
c.4239C>G (p.Pro1413=)
c.2805C>G (p.Pro935=)
c.1968C>G (p.Pro656=)
c.1599C>G (p.Pro533=)
n.3110C>G
n.567C>G
c.4647C>G (p.Pro1549=)
n.2644C>G
c.2015C>G
c.1929C>G
n.1313C>G
c.1989C>G (p.Pro663=)
c.2148C>G (p.Pro716=)
c.4278C>G (p.Pro1426=)
c.4398C>G (p.Pro1466=)
c.3477C>G (p.Pro1159=)
c.3297C>G (p.Pro1099=)
c.3057C>G (p.Pro1019=)
c.2676C>G (p.Pro892=)
c.1539C>G (p.Pro513=)
c.4608C>G (p.Pro1536=)
c.4509C>G (p.Pro1503=)
c.4479C>G (p.Pro1493=)
c.4449C>G (p.Pro1483=)
c.4320C>G (p.Pro1440=)
c.4299C>G (p.Pro1433=)
n.4594C>G
6g.157200872C>TCA452977884ARID1Bc.4488C>T (p.Pro1496=)
c.4557C>T (p.Pro1519=)
c.4776C>T (p.Pro1592=)
c.4527C>T (p.Pro1509=)
c.4239C>T (p.Pro1413=)
c.2805C>T (p.Pro935=)
c.1968C>T (p.Pro656=)
c.1599C>T (p.Pro533=)
n.3110C>T
n.567C>T
c.4647C>T (p.Pro1549=)
n.2644C>T
c.2015C>T
c.1929C>T
n.1313C>T
c.1989C>T (p.Pro663=)
c.2148C>T (p.Pro716=)
c.4278C>T (p.Pro1426=)
c.4398C>T (p.Pro1466=)
c.3477C>T (p.Pro1159=)
c.3297C>T (p.Pro1099=)
c.3057C>T (p.Pro1019=)
c.2676C>T (p.Pro892=)
c.1539C>T (p.Pro513=)
c.4608C>T (p.Pro1536=)
c.4509C>T (p.Pro1503=)
c.4479C>T (p.Pro1493=)
c.4449C>T (p.Pro1483=)
c.4320C>T (p.Pro1440=)
c.4299C>T (p.Pro1433=)
n.4594C>T
6g.157200873T>ACA366241119ARID1Bc.4489T>A (p.Tyr1497Asn)
c.4558T>A (p.Tyr1520Asn)
c.4777T>A (p.Tyr1593Asn)
c.4528T>A (p.Tyr1510Asn)
c.4240T>A (p.Tyr1414Asn)
c.2806T>A (p.Tyr936Asn)
c.1969T>A (p.Tyr657Asn)
c.1600T>A (p.Tyr534Asn)
n.3111T>A
n.568T>A
c.4648T>A (p.Tyr1550Asn)
n.2645T>A
c.2016T>A
c.1930T>A
n.1314T>A
c.1990T>A (p.Tyr664Asn)
c.2149T>A (p.Tyr717Asn)
c.4279T>A (p.Tyr1427Asn)
c.4399T>A (p.Tyr1467Asn)
c.3478T>A (p.Tyr1160Asn)
c.3298T>A (p.Tyr1100Asn)
c.3058T>A (p.Tyr1020Asn)
c.2677T>A (p.Tyr893Asn)
c.1540T>A (p.Tyr514Asn)
c.4609T>A (p.Tyr1537Asn)
c.4510T>A (p.Tyr1504Asn)
c.4480T>A (p.Tyr1494Asn)
c.4450T>A (p.Tyr1484Asn)
c.4321T>A (p.Tyr1441Asn)
c.4300T>A (p.Tyr1434Asn)
n.4595T>A
6g.157200873T>CCA366241120ARID1Bc.4489T>C (p.Tyr1497His)
c.4558T>C (p.Tyr1520His)
c.4777T>C (p.Tyr1593His)
c.4528T>C (p.Tyr1510His)
c.4240T>C (p.Tyr1414His)
c.2806T>C (p.Tyr936His)
c.1969T>C (p.Tyr657His)
c.1600T>C (p.Tyr534His)
n.3111T>C
n.568T>C
c.4648T>C (p.Tyr1550His)
n.2645T>C
c.2016T>C
c.1930T>C
n.1314T>C
c.1990T>C (p.Tyr664His)
c.2149T>C (p.Tyr717His)
c.4279T>C (p.Tyr1427His)
c.4399T>C (p.Tyr1467His)
c.3478T>C (p.Tyr1160His)
c.3298T>C (p.Tyr1100His)
c.3058T>C (p.Tyr1020His)
c.2677T>C (p.Tyr893His)
c.1540T>C (p.Tyr514His)
c.4609T>C (p.Tyr1537His)
c.4510T>C (p.Tyr1504His)
c.4480T>C (p.Tyr1494His)
c.4450T>C (p.Tyr1484His)
c.4321T>C (p.Tyr1441His)
c.4300T>C (p.Tyr1434His)
n.4595T>C
6g.157200873T>GCA366241121ARID1Bc.4489T>G (p.Tyr1497Asp)
c.4558T>G (p.Tyr1520Asp)
c.4777T>G (p.Tyr1593Asp)
c.4528T>G (p.Tyr1510Asp)
c.4240T>G (p.Tyr1414Asp)
c.2806T>G (p.Tyr936Asp)
c.1969T>G (p.Tyr657Asp)
c.1600T>G (p.Tyr534Asp)
n.3111T>G
n.568T>G
c.4648T>G (p.Tyr1550Asp)
n.2645T>G
c.2016T>G
c.1930T>G
n.1314T>G
c.1990T>G (p.Tyr664Asp)
c.2149T>G (p.Tyr717Asp)
c.4279T>G (p.Tyr1427Asp)
c.4399T>G (p.Tyr1467Asp)
c.3478T>G (p.Tyr1160Asp)
c.3298T>G (p.Tyr1100Asp)
c.3058T>G (p.Tyr1020Asp)
c.2677T>G (p.Tyr893Asp)
c.1540T>G (p.Tyr514Asp)
c.4609T>G (p.Tyr1537Asp)
c.4510T>G (p.Tyr1504Asp)
c.4480T>G (p.Tyr1494Asp)
c.4450T>G (p.Tyr1484Asp)
c.4321T>G (p.Tyr1441Asp)
c.4300T>G (p.Tyr1434Asp)
n.4595T>G
6g.157200874A=CA1675543123ARID1Bc.4490A= (p.Tyr1497=)
c.4559A= (p.Tyr1520=)
c.4778A= (p.Tyr1593=)
c.4529A= (p.Tyr1510=)
c.4241A= (p.Tyr1414=)
c.2807A= (p.Tyr936=)
c.1970A= (p.Tyr657=)
c.1601A= (p.Tyr534=)
n.3112A=
n.569A=
c.4649A= (p.Tyr1550=)
n.2646A=
c.2017A=
c.1931A=
n.1315A=
c.1991A= (p.Tyr664=)
c.2150A= (p.Tyr717=)
c.4280A= (p.Tyr1427=)
c.4400A= (p.Tyr1467=)
c.3479A= (p.Tyr1160=)
c.3299A= (p.Tyr1100=)
c.3059A= (p.Tyr1020=)
c.2678A= (p.Tyr893=)
c.1541A= (p.Tyr514=)
c.4610A= (p.Tyr1537=)
c.4511A= (p.Tyr1504=)
c.4481A= (p.Tyr1494=)
c.4451A= (p.Tyr1484=)
c.4322A= (p.Tyr1441=)
c.4301A= (p.Tyr1434=)
n.4596A=
6g.157200874A>CCA366241122ARID1Bc.4490A>C (p.Tyr1497Ser)
c.4559A>C (p.Tyr1520Ser)
c.4778A>C (p.Tyr1593Ser)
c.4529A>C (p.Tyr1510Ser)
c.4241A>C (p.Tyr1414Ser)
c.2807A>C (p.Tyr936Ser)
c.1970A>C (p.Tyr657Ser)
c.1601A>C (p.Tyr534Ser)
n.3112A>C
n.569A>C
c.4649A>C (p.Tyr1550Ser)
n.2646A>C
c.2017A>C
c.1931A>C
n.1315A>C
c.1991A>C (p.Tyr664Ser)
c.2150A>C (p.Tyr717Ser)
c.4280A>C (p.Tyr1427Ser)
c.4400A>C (p.Tyr1467Ser)
c.3479A>C (p.Tyr1160Ser)
c.3299A>C (p.Tyr1100Ser)
c.3059A>C (p.Tyr1020Ser)
c.2678A>C (p.Tyr893Ser)
c.1541A>C (p.Tyr514Ser)
c.4610A>C (p.Tyr1537Ser)
c.4511A>C (p.Tyr1504Ser)
c.4481A>C (p.Tyr1494Ser)
c.4451A>C (p.Tyr1484Ser)
c.4322A>C (p.Tyr1441Ser)
c.4301A>C (p.Tyr1434Ser)
n.4596A>C
6g.157200874A>GCA366241123ARID1Bc.4490A>G (p.Tyr1497Cys)
c.4559A>G (p.Tyr1520Cys)
c.4778A>G (p.Tyr1593Cys)
c.4529A>G (p.Tyr1510Cys)
c.4241A>G (p.Tyr1414Cys)
c.2807A>G (p.Tyr936Cys)
c.1970A>G (p.Tyr657Cys)
c.1601A>G (p.Tyr534Cys)
n.3112A>G
n.569A>G
c.4649A>G (p.Tyr1550Cys)
n.2646A>G
c.2017A>G
c.1931A>G
n.1315A>G
c.1991A>G (p.Tyr664Cys)
c.2150A>G (p.Tyr717Cys)
c.4280A>G (p.Tyr1427Cys)
c.4400A>G (p.Tyr1467Cys)
c.3479A>G (p.Tyr1160Cys)
c.3299A>G (p.Tyr1100Cys)
c.3059A>G (p.Tyr1020Cys)
c.2678A>G (p.Tyr893Cys)
c.1541A>G (p.Tyr514Cys)
c.4610A>G (p.Tyr1537Cys)
c.4511A>G (p.Tyr1504Cys)
c.4481A>G (p.Tyr1494Cys)
c.4451A>G (p.Tyr1484Cys)
c.4322A>G (p.Tyr1441Cys)
c.4301A>G (p.Tyr1434Cys)
n.4596A>G
dbSNP gnomAD v4
6g.157200874A>TCA366241124ARID1Bc.4490A>T (p.Tyr1497Phe)
c.4559A>T (p.Tyr1520Phe)
c.4778A>T (p.Tyr1593Phe)
c.4529A>T (p.Tyr1510Phe)
c.4241A>T (p.Tyr1414Phe)
c.2807A>T (p.Tyr936Phe)
c.1970A>T (p.Tyr657Phe)
c.1601A>T (p.Tyr534Phe)
n.3112A>T
n.569A>T
c.4649A>T (p.Tyr1550Phe)
n.2646A>T
c.2017A>T
c.1931A>T
n.1315A>T
c.1991A>T (p.Tyr664Phe)
c.2150A>T (p.Tyr717Phe)
c.4280A>T (p.Tyr1427Phe)
c.4400A>T (p.Tyr1467Phe)
c.3479A>T (p.Tyr1160Phe)
c.3299A>T (p.Tyr1100Phe)
c.3059A>T (p.Tyr1020Phe)
c.2678A>T (p.Tyr893Phe)
c.1541A>T (p.Tyr514Phe)
c.4610A>T (p.Tyr1537Phe)
c.4511A>T (p.Tyr1504Phe)
c.4481A>T (p.Tyr1494Phe)
c.4451A>T (p.Tyr1484Phe)
c.4322A>T (p.Tyr1441Phe)
c.4301A>T (p.Tyr1434Phe)
n.4596A>T
6g.157200875C>ACA366241126ARID1Bc.4491C>A (p.Tyr1497Ter)
c.4560C>A (p.Tyr1520Ter)
c.4779C>A (p.Tyr1593Ter)
c.4530C>A (p.Tyr1510Ter)
c.4242C>A (p.Tyr1414Ter)
c.2808C>A (p.Tyr936Ter)
c.1971C>A (p.Tyr657Ter)
c.1602C>A (p.Tyr534Ter)
n.3113C>A
n.570C>A
c.4650C>A (p.Tyr1550Ter)
n.2647C>A
c.2018C>A
c.1932C>A
n.1316C>A
c.1992C>A (p.Tyr664Ter)
c.2151C>A (p.Tyr717Ter)
c.4281C>A (p.Tyr1427Ter)
c.4401C>A (p.Tyr1467Ter)
c.3480C>A (p.Tyr1160Ter)
c.3300C>A (p.Tyr1100Ter)
c.3060C>A (p.Tyr1020Ter)
c.2679C>A (p.Tyr893Ter)
c.1542C>A (p.Tyr514Ter)
c.4611C>A (p.Tyr1537Ter)
c.4512C>A (p.Tyr1504Ter)
c.4482C>A (p.Tyr1494Ter)
c.4452C>A (p.Tyr1484Ter)
c.4323C>A (p.Tyr1441Ter)
c.4302C>A (p.Tyr1434Ter)
n.4597C>A
6g.157200875C>GCA366241125ARID1Bc.4491C>G (p.Tyr1497Ter)
c.4560C>G (p.Tyr1520Ter)
c.4779C>G (p.Tyr1593Ter)
c.4530C>G (p.Tyr1510Ter)
c.4242C>G (p.Tyr1414Ter)
c.2808C>G (p.Tyr936Ter)
c.1971C>G (p.Tyr657Ter)
c.1602C>G (p.Tyr534Ter)
n.3113C>G
n.570C>G
c.4650C>G (p.Tyr1550Ter)
n.2647C>G
c.2018C>G
c.1932C>G
n.1316C>G
c.1992C>G (p.Tyr664Ter)
c.2151C>G (p.Tyr717Ter)
c.4281C>G (p.Tyr1427Ter)
c.4401C>G (p.Tyr1467Ter)
c.3480C>G (p.Tyr1160Ter)
c.3300C>G (p.Tyr1100Ter)
c.3060C>G (p.Tyr1020Ter)
c.2679C>G (p.Tyr893Ter)
c.1542C>G (p.Tyr514Ter)
c.4611C>G (p.Tyr1537Ter)
c.4512C>G (p.Tyr1504Ter)
c.4482C>G (p.Tyr1494Ter)
c.4452C>G (p.Tyr1484Ter)
c.4323C>G (p.Tyr1441Ter)
c.4302C>G (p.Tyr1434Ter)
n.4597C>G
6g.157200875C>TCA452977892ARID1Bc.4491C>T (p.Tyr1497=)
c.4560C>T (p.Tyr1520=)
c.4779C>T (p.Tyr1593=)
c.4530C>T (p.Tyr1510=)
c.4242C>T (p.Tyr1414=)
c.2808C>T (p.Tyr936=)
c.1971C>T (p.Tyr657=)
c.1602C>T (p.Tyr534=)
n.3113C>T
n.570C>T
c.4650C>T (p.Tyr1550=)
n.2647C>T
c.2018C>T
c.1932C>T
n.1316C>T
c.1992C>T (p.Tyr664=)
c.2151C>T (p.Tyr717=)
c.4281C>T (p.Tyr1427=)
c.4401C>T (p.Tyr1467=)
c.3480C>T (p.Tyr1160=)
c.3300C>T (p.Tyr1100=)
c.3060C>T (p.Tyr1020=)
c.2679C>T (p.Tyr893=)
c.1542C>T (p.Tyr514=)
c.4611C>T (p.Tyr1537=)
c.4512C>T (p.Tyr1504=)
c.4482C>T (p.Tyr1494=)
c.4452C>T (p.Tyr1484=)
c.4323C>T (p.Tyr1441=)
c.4302C>T (p.Tyr1434=)
n.4597C>T
gnomAD v4
6g.157200876A>CCA366241127ARID1Bc.4492A>C (p.Ser1498Arg)
c.4561A>C (p.Ser1521Arg)
c.4780A>C (p.Ser1594Arg)
c.4531A>C (p.Ser1511Arg)
c.4243A>C (p.Ser1415Arg)
c.2809A>C (p.Ser937Arg)
c.1972A>C (p.Ser658Arg)
c.1603A>C (p.Ser535Arg)
n.3114A>C
n.571A>C
c.4651A>C (p.Ser1551Arg)
n.2648A>C
c.2019A>C
c.1933A>C
n.1317A>C
c.1993A>C (p.Ser665Arg)
c.2152A>C (p.Ser718Arg)
c.4282A>C (p.Ser1428Arg)
c.4402A>C (p.Ser1468Arg)
c.3481A>C (p.Ser1161Arg)
c.3301A>C (p.Ser1101Arg)
c.3061A>C (p.Ser1021Arg)
c.2680A>C (p.Ser894Arg)
c.1543A>C (p.Ser515Arg)
c.4612A>C (p.Ser1538Arg)
c.4513A>C (p.Ser1505Arg)
c.4483A>C (p.Ser1495Arg)
c.4453A>C (p.Ser1485Arg)
c.4324A>C (p.Ser1442Arg)
c.4303A>C (p.Ser1435Arg)
n.4598A>C
6g.157200876A>GCA366241128ARID1Bc.4492A>G (p.Ser1498Gly)
c.4561A>G (p.Ser1521Gly)
c.4780A>G (p.Ser1594Gly)
c.4531A>G (p.Ser1511Gly)
c.4243A>G (p.Ser1415Gly)
c.2809A>G (p.Ser937Gly)
c.1972A>G (p.Ser658Gly)
c.1603A>G (p.Ser535Gly)
n.3114A>G
n.571A>G
c.4651A>G (p.Ser1551Gly)
n.2648A>G
c.2019A>G
c.1933A>G
n.1317A>G
c.1993A>G (p.Ser665Gly)
c.2152A>G (p.Ser718Gly)
c.4282A>G (p.Ser1428Gly)
c.4402A>G (p.Ser1468Gly)
c.3481A>G (p.Ser1161Gly)
c.3301A>G (p.Ser1101Gly)
c.3061A>G (p.Ser1021Gly)
c.2680A>G (p.Ser894Gly)
c.1543A>G (p.Ser515Gly)
c.4612A>G (p.Ser1538Gly)
c.4513A>G (p.Ser1505Gly)
c.4483A>G (p.Ser1495Gly)
c.4453A>G (p.Ser1485Gly)
c.4324A>G (p.Ser1442Gly)
c.4303A>G (p.Ser1435Gly)
n.4598A>G
ClinVar gnomAD v4
6g.157200876A>TCA366241129ARID1Bc.4492A>T (p.Ser1498Cys)
c.4561A>T (p.Ser1521Cys)
c.4780A>T (p.Ser1594Cys)
c.4531A>T (p.Ser1511Cys)
c.4243A>T (p.Ser1415Cys)
c.2809A>T (p.Ser937Cys)
c.1972A>T (p.Ser658Cys)
c.1603A>T (p.Ser535Cys)
n.3114A>T
n.571A>T
c.4651A>T (p.Ser1551Cys)
n.2648A>T
c.2019A>T
c.1933A>T
n.1317A>T
c.1993A>T (p.Ser665Cys)
c.2152A>T (p.Ser718Cys)
c.4282A>T (p.Ser1428Cys)
c.4402A>T (p.Ser1468Cys)
c.3481A>T (p.Ser1161Cys)
c.3301A>T (p.Ser1101Cys)
c.3061A>T (p.Ser1021Cys)
c.2680A>T (p.Ser894Cys)
c.1543A>T (p.Ser515Cys)
c.4612A>T (p.Ser1538Cys)
c.4513A>T (p.Ser1505Cys)
c.4483A>T (p.Ser1495Cys)
c.4453A>T (p.Ser1485Cys)
c.4324A>T (p.Ser1442Cys)
c.4303A>T (p.Ser1435Cys)
n.4598A>T
6g.157200877G>ACA366241130ARID1Bc.4493G>A (p.Ser1498Asn)
c.4562G>A (p.Ser1521Asn)
c.4781G>A (p.Ser1594Asn)
c.4532G>A (p.Ser1511Asn)
c.4244G>A (p.Ser1415Asn)
c.2810G>A (p.Ser937Asn)
c.1973G>A (p.Ser658Asn)
c.1604G>A (p.Ser535Asn)
n.3115G>A
n.572G>A
c.4652G>A (p.Ser1551Asn)
n.2649G>A
c.2020G>A
c.1934G>A
n.1318G>A
c.1994G>A (p.Ser665Asn)
c.2153G>A (p.Ser718Asn)
c.4283G>A (p.Ser1428Asn)
c.4403G>A (p.Ser1468Asn)
c.3482G>A (p.Ser1161Asn)
c.3302G>A (p.Ser1101Asn)
c.3062G>A (p.Ser1021Asn)
c.2681G>A (p.Ser894Asn)
c.1544G>A (p.Ser515Asn)
c.4613G>A (p.Ser1538Asn)
c.4514G>A (p.Ser1505Asn)
c.4484G>A (p.Ser1495Asn)
c.4454G>A (p.Ser1485Asn)
c.4325G>A (p.Ser1442Asn)
c.4304G>A (p.Ser1435Asn)
n.4599G>A
dbSNP gnomAD v4
6g.157200877G>CCA366241131ARID1Bc.4493G>C (p.Ser1498Thr)
c.4562G>C (p.Ser1521Thr)
c.4781G>C (p.Ser1594Thr)
c.4532G>C (p.Ser1511Thr)
c.4244G>C (p.Ser1415Thr)
c.2810G>C (p.Ser937Thr)
c.1973G>C (p.Ser658Thr)
c.1604G>C (p.Ser535Thr)
n.3115G>C
n.572G>C
c.4652G>C (p.Ser1551Thr)
n.2649G>C
c.2020G>C
c.1934G>C
n.1318G>C
c.1994G>C (p.Ser665Thr)
c.2153G>C (p.Ser718Thr)
c.4283G>C (p.Ser1428Thr)
c.4403G>C (p.Ser1468Thr)
c.3482G>C (p.Ser1161Thr)
c.3302G>C (p.Ser1101Thr)
c.3062G>C (p.Ser1021Thr)
c.2681G>C (p.Ser894Thr)
c.1544G>C (p.Ser515Thr)
c.4613G>C (p.Ser1538Thr)
c.4514G>C (p.Ser1505Thr)
c.4484G>C (p.Ser1495Thr)
c.4454G>C (p.Ser1485Thr)
c.4325G>C (p.Ser1442Thr)
c.4304G>C (p.Ser1435Thr)
n.4599G>C
dbSNP
6g.157200877G>TCA366241132ARID1Bc.4493G>T (p.Ser1498Ile)
c.4562G>T (p.Ser1521Ile)
c.4781G>T (p.Ser1594Ile)
c.4532G>T (p.Ser1511Ile)
c.4244G>T (p.Ser1415Ile)
c.2810G>T (p.Ser937Ile)
c.1973G>T (p.Ser658Ile)
c.1604G>T (p.Ser535Ile)
n.3115G>T
n.572G>T
c.4652G>T (p.Ser1551Ile)
n.2649G>T
c.2020G>T
c.1934G>T
n.1318G>T
c.1994G>T (p.Ser665Ile)
c.2153G>T (p.Ser718Ile)
c.4283G>T (p.Ser1428Ile)
c.4403G>T (p.Ser1468Ile)
c.3482G>T (p.Ser1161Ile)
c.3302G>T (p.Ser1101Ile)
c.3062G>T (p.Ser1021Ile)
c.2681G>T (p.Ser894Ile)
c.1544G>T (p.Ser515Ile)
c.4613G>T (p.Ser1538Ile)
c.4514G>T (p.Ser1505Ile)
c.4484G>T (p.Ser1495Ile)
c.4454G>T (p.Ser1485Ile)
c.4325G>T (p.Ser1442Ile)
c.4304G>T (p.Ser1435Ile)
n.4599G>T
gnomAD v4
6g.157200878C>ACA366241133ARID1Bc.4494C>A (p.Ser1498Arg)
c.4563C>A (p.Ser1521Arg)
c.4782C>A (p.Ser1594Arg)
c.4533C>A (p.Ser1511Arg)
c.4245C>A (p.Ser1415Arg)
c.2811C>A (p.Ser937Arg)
c.1974C>A (p.Ser658Arg)
c.1605C>A (p.Ser535Arg)
n.3116C>A
n.573C>A
c.4653C>A (p.Ser1551Arg)
n.2650C>A
c.2021C>A
c.1935C>A
n.1319C>A
c.1995C>A (p.Ser665Arg)
c.2154C>A (p.Ser718Arg)
c.4284C>A (p.Ser1428Arg)
c.4404C>A (p.Ser1468Arg)
c.3483C>A (p.Ser1161Arg)
c.3303C>A (p.Ser1101Arg)
c.3063C>A (p.Ser1021Arg)
c.2682C>A (p.Ser894Arg)
c.1545C>A (p.Ser515Arg)
c.4614C>A (p.Ser1538Arg)
c.4515C>A (p.Ser1505Arg)
c.4485C>A (p.Ser1495Arg)
c.4455C>A (p.Ser1485Arg)
c.4326C>A (p.Ser1442Arg)
c.4305C>A (p.Ser1435Arg)
n.4600C>A
dbSNP
6g.157200878C>GCA366241134ARID1Bc.4494C>G (p.Ser1498Arg)
c.4563C>G (p.Ser1521Arg)
c.4782C>G (p.Ser1594Arg)
c.4533C>G (p.Ser1511Arg)
c.4245C>G (p.Ser1415Arg)
c.2811C>G (p.Ser937Arg)
c.1974C>G (p.Ser658Arg)
c.1605C>G (p.Ser535Arg)
n.3116C>G
n.573C>G
c.4653C>G (p.Ser1551Arg)
n.2650C>G
c.2021C>G
c.1935C>G
n.1319C>G
c.1995C>G (p.Ser665Arg)
c.2154C>G (p.Ser718Arg)
c.4284C>G (p.Ser1428Arg)
c.4404C>G (p.Ser1468Arg)
c.3483C>G (p.Ser1161Arg)
c.3303C>G (p.Ser1101Arg)
c.3063C>G (p.Ser1021Arg)
c.2682C>G (p.Ser894Arg)
c.1545C>G (p.Ser515Arg)
c.4614C>G (p.Ser1538Arg)
c.4515C>G (p.Ser1505Arg)
c.4485C>G (p.Ser1495Arg)
c.4455C>G (p.Ser1485Arg)
c.4326C>G (p.Ser1442Arg)
c.4305C>G (p.Ser1435Arg)
n.4600C>G
gnomAD v4
6g.157200878C>TCA452977898ARID1Bc.4494C>T (p.Ser1498=)
c.4563C>T (p.Ser1521=)
c.4782C>T (p.Ser1594=)
c.4533C>T (p.Ser1511=)
c.4245C>T (p.Ser1415=)
c.2811C>T (p.Ser937=)
c.1974C>T (p.Ser658=)
c.1605C>T (p.Ser535=)
n.3116C>T
n.573C>T
c.4653C>T (p.Ser1551=)
n.2650C>T
c.2021C>T
c.1935C>T
n.1319C>T
c.1995C>T (p.Ser665=)
c.2154C>T (p.Ser718=)
c.4284C>T (p.Ser1428=)
c.4404C>T (p.Ser1468=)
c.3483C>T (p.Ser1161=)
c.3303C>T (p.Ser1101=)
c.3063C>T (p.Ser1021=)
c.2682C>T (p.Ser894=)
c.1545C>T (p.Ser515=)
c.4614C>T (p.Ser1538=)
c.4515C>T (p.Ser1505=)
c.4485C>T (p.Ser1495=)
c.4455C>T (p.Ser1485=)
c.4326C>T (p.Ser1442=)
c.4305C>T (p.Ser1435=)
n.4600C>T
dbSNP
6g.157200879A>CCA452977900ARID1Bc.4495A>C (p.Arg1499=)
c.4564A>C (p.Arg1522=)
c.4783A>C (p.Arg1595=)
c.4534A>C (p.Arg1512=)
c.4246A>C (p.Arg1416=)
c.2812A>C (p.Arg938=)
c.1975A>C (p.Arg659=)
c.1606A>C (p.Arg536=)
n.3117A>C
n.574A>C
c.4654A>C (p.Arg1552=)
n.2651A>C
c.2022A>C
c.1936A>C
n.1320A>C
c.1996A>C (p.Arg666=)
c.2155A>C (p.Arg719=)
c.4285A>C (p.Arg1429=)
c.4405A>C (p.Arg1469=)
c.3484A>C (p.Arg1162=)
c.3304A>C (p.Arg1102=)
c.3064A>C (p.Arg1022=)
c.2683A>C (p.Arg895=)
c.1546A>C (p.Arg516=)
c.4615A>C (p.Arg1539=)
c.4516A>C (p.Arg1506=)
c.4486A>C (p.Arg1496=)
c.4456A>C (p.Arg1486=)
c.4327A>C (p.Arg1443=)
c.4306A>C (p.Arg1436=)
n.4601A>C
6g.157200879A>GCA366241135ARID1Bc.4495A>G (p.Arg1499Gly)
c.4564A>G (p.Arg1522Gly)
c.4783A>G (p.Arg1595Gly)
c.4534A>G (p.Arg1512Gly)
c.4246A>G (p.Arg1416Gly)
c.2812A>G (p.Arg938Gly)
c.1975A>G (p.Arg659Gly)
c.1606A>G (p.Arg536Gly)
n.3117A>G
n.574A>G
c.4654A>G (p.Arg1552Gly)
n.2651A>G
c.2022A>G
c.1936A>G
n.1320A>G
c.1996A>G (p.Arg666Gly)
c.2155A>G (p.Arg719Gly)
c.4285A>G (p.Arg1429Gly)
c.4405A>G (p.Arg1469Gly)
c.3484A>G (p.Arg1162Gly)
c.3304A>G (p.Arg1102Gly)
c.3064A>G (p.Arg1022Gly)
c.2683A>G (p.Arg895Gly)
c.1546A>G (p.Arg516Gly)
c.4615A>G (p.Arg1539Gly)
c.4516A>G (p.Arg1506Gly)
c.4486A>G (p.Arg1496Gly)
c.4456A>G (p.Arg1486Gly)
c.4327A>G (p.Arg1443Gly)
c.4306A>G (p.Arg1436Gly)
n.4601A>G
6g.157200879A>TCA366241136ARID1Bc.4495A>T (p.Arg1499Trp)
c.4564A>T (p.Arg1522Trp)
c.4783A>T (p.Arg1595Trp)
c.4534A>T (p.Arg1512Trp)
c.4246A>T (p.Arg1416Trp)
c.2812A>T (p.Arg938Trp)
c.1975A>T (p.Arg659Trp)
c.1606A>T (p.Arg536Trp)
n.3117A>T
n.574A>T
c.4654A>T (p.Arg1552Trp)
n.2651A>T
c.2022A>T
c.1936A>T
n.1320A>T
c.1996A>T (p.Arg666Trp)
c.2155A>T (p.Arg719Trp)
c.4285A>T (p.Arg1429Trp)
c.4405A>T (p.Arg1469Trp)
c.3484A>T (p.Arg1162Trp)
c.3304A>T (p.Arg1102Trp)
c.3064A>T (p.Arg1022Trp)
c.2683A>T (p.Arg895Trp)
c.1546A>T (p.Arg516Trp)
c.4615A>T (p.Arg1539Trp)
c.4516A>T (p.Arg1506Trp)
c.4486A>T (p.Arg1496Trp)
c.4456A>T (p.Arg1486Trp)
c.4327A>T (p.Arg1443Trp)
c.4306A>T (p.Arg1436Trp)
n.4601A>T
COSMIC COSMIC
6g.157200880G>ACA366241137ARID1Bc.4496G>A (p.Arg1499Lys)
c.4565G>A (p.Arg1522Lys)
c.4784G>A (p.Arg1595Lys)
c.4535G>A (p.Arg1512Lys)
c.4247G>A (p.Arg1416Lys)
c.2813G>A (p.Arg938Lys)
c.1976G>A (p.Arg659Lys)
c.1607G>A (p.Arg536Lys)
n.3118G>A
n.575G>A
c.4655G>A (p.Arg1552Lys)
n.2652G>A
c.2023G>A
c.1937G>A
n.1321G>A
c.1997G>A (p.Arg666Lys)
c.2156G>A (p.Arg719Lys)
c.4286G>A (p.Arg1429Lys)
c.4406G>A (p.Arg1469Lys)
c.3485G>A (p.Arg1162Lys)
c.3305G>A (p.Arg1102Lys)
c.3065G>A (p.Arg1022Lys)
c.2684G>A (p.Arg895Lys)
c.1547G>A (p.Arg516Lys)
c.4616G>A (p.Arg1539Lys)
c.4517G>A (p.Arg1506Lys)
c.4487G>A (p.Arg1496Lys)
c.4457G>A (p.Arg1486Lys)
c.4328G>A (p.Arg1443Lys)
c.4307G>A (p.Arg1436Lys)
n.4602G>A
6g.157200880G>CCA366241138ARID1Bc.4496G>C (p.Arg1499Thr)
c.4565G>C (p.Arg1522Thr)
c.4784G>C (p.Arg1595Thr)
c.4535G>C (p.Arg1512Thr)
c.4247G>C (p.Arg1416Thr)
c.2813G>C (p.Arg938Thr)
c.1976G>C (p.Arg659Thr)
c.1607G>C (p.Arg536Thr)
n.3118G>C
n.575G>C
c.4655G>C (p.Arg1552Thr)
n.2652G>C
c.2023G>C
c.1937G>C
n.1321G>C
c.1997G>C (p.Arg666Thr)
c.2156G>C (p.Arg719Thr)
c.4286G>C (p.Arg1429Thr)
c.4406G>C (p.Arg1469Thr)
c.3485G>C (p.Arg1162Thr)
c.3305G>C (p.Arg1102Thr)
c.3065G>C (p.Arg1022Thr)
c.2684G>C (p.Arg895Thr)
c.1547G>C (p.Arg516Thr)
c.4616G>C (p.Arg1539Thr)
c.4517G>C (p.Arg1506Thr)
c.4487G>C (p.Arg1496Thr)
c.4457G>C (p.Arg1486Thr)
c.4328G>C (p.Arg1443Thr)
c.4307G>C (p.Arg1436Thr)
n.4602G>C
dbSNP gnomAD v2
6g.157200880G=CA1675543124ARID1Bc.4496G= (p.Arg1499=)
c.4565G= (p.Arg1522=)
c.4784G= (p.Arg1595=)
c.4535G= (p.Arg1512=)
c.4247G= (p.Arg1416=)
c.2813G= (p.Arg938=)
c.1976G= (p.Arg659=)
c.1607G= (p.Arg536=)
n.3118G=
n.575G=
c.4655G= (p.Arg1552=)
n.2652G=
c.2023G=
c.1937G=
n.1321G=
c.1997G= (p.Arg666=)
c.2156G= (p.Arg719=)
c.4286G= (p.Arg1429=)
c.4406G= (p.Arg1469=)
c.3485G= (p.Arg1162=)
c.3305G= (p.Arg1102=)
c.3065G= (p.Arg1022=)
c.2684G= (p.Arg895=)
c.1547G= (p.Arg516=)
c.4616G= (p.Arg1539=)
c.4517G= (p.Arg1506=)
c.4487G= (p.Arg1496=)
c.4457G= (p.Arg1486=)
c.4328G= (p.Arg1443=)
c.4307G= (p.Arg1436=)
n.4602G=
6g.157200880G>TCA366241139ARID1Bc.4496G>T (p.Arg1499Met)
c.4565G>T (p.Arg1522Met)
c.4784G>T (p.Arg1595Met)
c.4535G>T (p.Arg1512Met)
c.4247G>T (p.Arg1416Met)
c.2813G>T (p.Arg938Met)
c.1976G>T (p.Arg659Met)
c.1607G>T (p.Arg536Met)
n.3118G>T
n.575G>T
c.4655G>T (p.Arg1552Met)
n.2652G>T
c.2023G>T
c.1937G>T
n.1321G>T
c.1997G>T (p.Arg666Met)
c.2156G>T (p.Arg719Met)
c.4286G>T (p.Arg1429Met)
c.4406G>T (p.Arg1469Met)
c.3485G>T (p.Arg1162Met)
c.3305G>T (p.Arg1102Met)
c.3065G>T (p.Arg1022Met)
c.2684G>T (p.Arg895Met)
c.1547G>T (p.Arg516Met)
c.4616G>T (p.Arg1539Met)
c.4517G>T (p.Arg1506Met)
c.4487G>T (p.Arg1496Met)
c.4457G>T (p.Arg1486Met)
c.4328G>T (p.Arg1443Met)
c.4307G>T (p.Arg1436Met)
n.4602G>T
6g.157200881G>ACA452977902ARID1Bc.4497G>A (p.Arg1499=)
c.4566G>A (p.Arg1522=)
c.4785G>A (p.Arg1595=)
c.4536G>A (p.Arg1512=)
c.4248G>A (p.Arg1416=)
c.2814G>A (p.Arg938=)
c.1977G>A (p.Arg659=)
c.1608G>A (p.Arg536=)
n.3119G>A
n.576G>A
c.4656G>A (p.Arg1552=)
n.2653G>A
c.2024G>A
c.1938G>A
n.1322G>A
c.1998G>A (p.Arg666=)
c.2157G>A (p.Arg719=)
c.4287G>A (p.Arg1429=)
c.4407G>A (p.Arg1469=)
c.3486G>A (p.Arg1162=)
c.3306G>A (p.Arg1102=)
c.3066G>A (p.Arg1022=)
c.2685G>A (p.Arg895=)
c.1548G>A (p.Arg516=)
c.4617G>A (p.Arg1539=)
c.4518G>A (p.Arg1506=)
c.4488G>A (p.Arg1496=)
c.4458G>A (p.Arg1486=)
c.4329G>A (p.Arg1443=)
c.4308G>A (p.Arg1436=)
n.4603G>A
ClinVar dbSNP
6g.157200881G>CCA366241140ARID1Bc.4497G>C (p.Arg1499Ser)
c.4566G>C (p.Arg1522Ser)
c.4785G>C (p.Arg1595Ser)
c.4536G>C (p.Arg1512Ser)
c.4248G>C (p.Arg1416Ser)
c.2814G>C (p.Arg938Ser)
c.1977G>C (p.Arg659Ser)
c.1608G>C (p.Arg536Ser)
n.3119G>C
n.576G>C
c.4656G>C (p.Arg1552Ser)
n.2653G>C
c.2024G>C
c.1938G>C
n.1322G>C
c.1998G>C (p.Arg666Ser)
c.2157G>C (p.Arg719Ser)
c.4287G>C (p.Arg1429Ser)
c.4407G>C (p.Arg1469Ser)
c.3486G>C (p.Arg1162Ser)
c.3306G>C (p.Arg1102Ser)
c.3066G>C (p.Arg1022Ser)
c.2685G>C (p.Arg895Ser)
c.1548G>C (p.Arg516Ser)
c.4617G>C (p.Arg1539Ser)
c.4518G>C (p.Arg1506Ser)
c.4488G>C (p.Arg1496Ser)
c.4458G>C (p.Arg1486Ser)
c.4329G>C (p.Arg1443Ser)
c.4308G>C (p.Arg1436Ser)
n.4603G>C
6g.157200881G=CA1675543125ARID1Bc.4497G= (p.Arg1499=)
c.4566G= (p.Arg1522=)
c.4785G= (p.Arg1595=)
c.4536G= (p.Arg1512=)
c.4248G= (p.Arg1416=)
c.2814G= (p.Arg938=)
c.1977G= (p.Arg659=)
c.1608G= (p.Arg536=)
n.3119G=
n.576G=
c.4656G= (p.Arg1552=)
n.2653G=
c.2024G=
c.1938G=
n.1322G=
c.1998G= (p.Arg666=)
c.2157G= (p.Arg719=)
c.4287G= (p.Arg1429=)
c.4407G= (p.Arg1469=)
c.3486G= (p.Arg1162=)
c.3306G= (p.Arg1102=)
c.3066G= (p.Arg1022=)
c.2685G= (p.Arg895=)
c.1548G= (p.Arg516=)
c.4617G= (p.Arg1539=)
c.4518G= (p.Arg1506=)
c.4488G= (p.Arg1496=)
c.4458G= (p.Arg1486=)
c.4329G= (p.Arg1443=)
c.4308G= (p.Arg1436=)
n.4603G=
6g.157200881G>TCA366241141ARID1Bc.4497G>T (p.Arg1499Ser)
c.4566G>T (p.Arg1522Ser)
c.4785G>T (p.Arg1595Ser)
c.4536G>T (p.Arg1512Ser)
c.4248G>T (p.Arg1416Ser)
c.2814G>T (p.Arg938Ser)
c.1977G>T (p.Arg659Ser)
c.1608G>T (p.Arg536Ser)
n.3119G>T
n.576G>T
c.4656G>T (p.Arg1552Ser)
n.2653G>T
c.2024G>T
c.1938G>T
n.1322G>T
c.1998G>T (p.Arg666Ser)
c.2157G>T (p.Arg719Ser)
c.4287G>T (p.Arg1429Ser)
c.4407G>T (p.Arg1469Ser)
c.3486G>T (p.Arg1162Ser)
c.3306G>T (p.Arg1102Ser)
c.3066G>T (p.Arg1022Ser)
c.2685G>T (p.Arg895Ser)
c.1548G>T (p.Arg516Ser)
c.4617G>T (p.Arg1539Ser)
c.4518G>T (p.Arg1506Ser)
c.4488G>T (p.Arg1496Ser)
c.4458G>T (p.Arg1486Ser)
c.4329G>T (p.Arg1443Ser)
c.4308G>T (p.Arg1436Ser)
n.4603G>T
6g.157200882G>ACA366241142ARID1Bc.4498G>A (p.Glu1500Lys)
c.4567G>A (p.Glu1523Lys)
c.4786G>A (p.Glu1596Lys)
c.4537G>A (p.Glu1513Lys)
c.4249G>A (p.Glu1417Lys)
c.2815G>A (p.Glu939Lys)
c.1978G>A (p.Glu660Lys)
c.1609G>A (p.Glu537Lys)
n.3120G>A
n.577G>A
c.4657G>A (p.Glu1553Lys)
n.2654G>A
c.2025G>A
c.1939G>A
n.1323G>A
c.1999G>A (p.Glu667Lys)
c.2158G>A (p.Glu720Lys)
c.4288G>A (p.Glu1430Lys)
c.4408G>A (p.Glu1470Lys)
c.3487G>A (p.Glu1163Lys)
c.3307G>A (p.Glu1103Lys)
c.3067G>A (p.Glu1023Lys)
c.2686G>A (p.Glu896Lys)
c.1549G>A (p.Glu517Lys)
c.4618G>A (p.Glu1540Lys)
c.4519G>A (p.Glu1507Lys)
c.4489G>A (p.Glu1497Lys)
c.4459G>A (p.Glu1487Lys)
c.4330G>A (p.Glu1444Lys)
c.4309G>A (p.Glu1437Lys)
n.4604G>A
6g.157200882G>CCA366241143ARID1Bc.4498G>C (p.Glu1500Gln)
c.4567G>C (p.Glu1523Gln)
c.4786G>C (p.Glu1596Gln)
c.4537G>C (p.Glu1513Gln)
c.4249G>C (p.Glu1417Gln)
c.2815G>C (p.Glu939Gln)
c.1978G>C (p.Glu660Gln)
c.1609G>C (p.Glu537Gln)
n.3120G>C
n.577G>C
c.4657G>C (p.Glu1553Gln)
n.2654G>C
c.2025G>C
c.1939G>C
n.1323G>C
c.1999G>C (p.Glu667Gln)
c.2158G>C (p.Glu720Gln)
c.4288G>C (p.Glu1430Gln)
c.4408G>C (p.Glu1470Gln)
c.3487G>C (p.Glu1163Gln)
c.3307G>C (p.Glu1103Gln)
c.3067G>C (p.Glu1023Gln)
c.2686G>C (p.Glu896Gln)
c.1549G>C (p.Glu517Gln)
c.4618G>C (p.Glu1540Gln)
c.4519G>C (p.Glu1507Gln)
c.4489G>C (p.Glu1497Gln)
c.4459G>C (p.Glu1487Gln)
c.4330G>C (p.Glu1444Gln)
c.4309G>C (p.Glu1437Gln)
n.4604G>C
6g.157200882G=CA1675543126ARID1Bc.4498G= (p.Glu1500=)
c.4567G= (p.Glu1523=)
c.4786G= (p.Glu1596=)
c.4537G= (p.Glu1513=)
c.4249G= (p.Glu1417=)
c.2815G= (p.Glu939=)
c.1978G= (p.Glu660=)
c.1609G= (p.Glu537=)
n.3120G=
n.577G=
c.4657G= (p.Glu1553=)
n.2654G=
c.2025G=
c.1939G=
n.1323G=
c.1999G= (p.Glu667=)
c.2158G= (p.Glu720=)
c.4288G= (p.Glu1430=)
c.4408G= (p.Glu1470=)
c.3487G= (p.Glu1163=)
c.3307G= (p.Glu1103=)
c.3067G= (p.Glu1023=)
c.2686G= (p.Glu896=)
c.1549G= (p.Glu517=)
c.4618G= (p.Glu1540=)
c.4519G= (p.Glu1507=)
c.4489G= (p.Glu1497=)
c.4459G= (p.Glu1487=)
c.4330G= (p.Glu1444=)
c.4309G= (p.Glu1437=)
n.4604G=
6g.157200882G>TCA366241144ARID1Bc.4498G>T (p.Glu1500Ter)
c.4567G>T (p.Glu1523Ter)
c.4786G>T (p.Glu1596Ter)
c.4537G>T (p.Glu1513Ter)
c.4249G>T (p.Glu1417Ter)
c.2815G>T (p.Glu939Ter)
c.1978G>T (p.Glu660Ter)
c.1609G>T (p.Glu537Ter)
n.3120G>T
n.577G>T
c.4657G>T (p.Glu1553Ter)
n.2654G>T
c.2025G>T
c.1939G>T
n.1323G>T
c.1999G>T (p.Glu667Ter)
c.2158G>T (p.Glu720Ter)
c.4288G>T (p.Glu1430Ter)
c.4408G>T (p.Glu1470Ter)
c.3487G>T (p.Glu1163Ter)
c.3307G>T (p.Glu1103Ter)
c.3067G>T (p.Glu1023Ter)
c.2686G>T (p.Glu896Ter)
c.1549G>T (p.Glu517Ter)
c.4618G>T (p.Glu1540Ter)
c.4519G>T (p.Glu1507Ter)
c.4489G>T (p.Glu1497Ter)
c.4459G>T (p.Glu1487Ter)
c.4330G>T (p.Glu1444Ter)
c.4309G>T (p.Glu1437Ter)
n.4604G>T
dbSNP
6g.157200883A>CCA366241145ARID1Bc.4499A>C (p.Glu1500Ala)
c.4568A>C (p.Glu1523Ala)
c.4787A>C (p.Glu1596Ala)
c.4538A>C (p.Glu1513Ala)
c.4250A>C (p.Glu1417Ala)
c.2816A>C (p.Glu939Ala)
c.1979A>C (p.Glu660Ala)
c.1610A>C (p.Glu537Ala)
n.3121A>C
n.578A>C
c.4658A>C (p.Glu1553Ala)
n.2655A>C
c.2026A>C
c.1940A>C
n.1324A>C
c.2000A>C (p.Glu667Ala)
c.2159A>C (p.Glu720Ala)
c.4289A>C (p.Glu1430Ala)
c.4409A>C (p.Glu1470Ala)
c.3488A>C (p.Glu1163Ala)
c.3308A>C (p.Glu1103Ala)
c.3068A>C (p.Glu1023Ala)
c.2687A>C (p.Glu896Ala)
c.1550A>C (p.Glu517Ala)
c.4619A>C (p.Glu1540Ala)
c.4520A>C (p.Glu1507Ala)
c.4490A>C (p.Glu1497Ala)
c.4460A>C (p.Glu1487Ala)
c.4331A>C (p.Glu1444Ala)
c.4310A>C (p.Glu1437Ala)
n.4605A>C
6g.157200883A>GCA366241146ARID1Bc.4499A>G (p.Glu1500Gly)
c.4568A>G (p.Glu1523Gly)
c.4787A>G (p.Glu1596Gly)
c.4538A>G (p.Glu1513Gly)
c.4250A>G (p.Glu1417Gly)
c.2816A>G (p.Glu939Gly)
c.1979A>G (p.Glu660Gly)
c.1610A>G (p.Glu537Gly)
n.3121A>G
n.578A>G
c.4658A>G (p.Glu1553Gly)
n.2655A>G
c.2026A>G
c.1940A>G
n.1324A>G
c.2000A>G (p.Glu667Gly)
c.2159A>G (p.Glu720Gly)
c.4289A>G (p.Glu1430Gly)
c.4409A>G (p.Glu1470Gly)
c.3488A>G (p.Glu1163Gly)
c.3308A>G (p.Glu1103Gly)
c.3068A>G (p.Glu1023Gly)
c.2687A>G (p.Glu896Gly)
c.1550A>G (p.Glu517Gly)
c.4619A>G (p.Glu1540Gly)
c.4520A>G (p.Glu1507Gly)
c.4490A>G (p.Glu1497Gly)
c.4460A>G (p.Glu1487Gly)
c.4331A>G (p.Glu1444Gly)
c.4310A>G (p.Glu1437Gly)
n.4605A>G
6g.157200883A>TCA366241147ARID1Bc.4499A>T (p.Glu1500Val)
c.4568A>T (p.Glu1523Val)
c.4787A>T (p.Glu1596Val)
c.4538A>T (p.Glu1513Val)
c.4250A>T (p.Glu1417Val)
c.2816A>T (p.Glu939Val)
c.1979A>T (p.Glu660Val)
c.1610A>T (p.Glu537Val)
n.3121A>T
n.578A>T
c.4658A>T (p.Glu1553Val)
n.2655A>T
c.2026A>T
c.1940A>T
n.1324A>T
c.2000A>T (p.Glu667Val)
c.2159A>T (p.Glu720Val)
c.4289A>T (p.Glu1430Val)
c.4409A>T (p.Glu1470Val)
c.3488A>T (p.Glu1163Val)
c.3308A>T (p.Glu1103Val)
c.3068A>T (p.Glu1023Val)
c.2687A>T (p.Glu896Val)
c.1550A>T (p.Glu517Val)
c.4619A>T (p.Glu1540Val)
c.4520A>T (p.Glu1507Val)
c.4490A>T (p.Glu1497Val)
c.4460A>T (p.Glu1487Val)
c.4331A>T (p.Glu1444Val)
c.4310A>T (p.Glu1437Val)
n.4605A>T
6g.157200883_157200886delinsAGAGCA1675543127ARID1Bc.4499_4502delinsAGAG (p.Glu1500=)
c.4568_4571delinsAGAG (p.Glu1523=)
c.4787_4790delinsAGAG (p.Glu1596=)
c.4538_4541delinsAGAG (p.Glu1513=)
c.4250_4253delinsAGAG (p.Glu1417=)
c.2816_2819delinsAGAG (p.Glu939=)
c.1979_1982delinsAGAG (p.Glu660=)
c.1610_1613delinsAGAG (p.Glu537=)
n.3121_3124delinsAGAG
n.578_581delinsAGAG
c.4658_4661delinsAGAG (p.Glu1553=)
n.2655_2658delinsAGAG
c.2026_2029delinsAGAG
c.1940_1943delinsAGAG
n.1324_1327delinsAGAG
c.2000_2003delinsAGAG (p.Glu667=)
c.2159_2162delinsAGAG (p.Glu720=)
c.4289_4292delinsAGAG (p.Glu1430=)
c.4409_4412delinsAGAG (p.Glu1470=)
c.3488_3491delinsAGAG (p.Glu1163=)
c.3308_3311delinsAGAG (p.Glu1103=)
c.3068_3071delinsAGAG (p.Glu1023=)
c.2687_2690delinsAGAG (p.Glu896=)
c.1550_1553delinsAGAG (p.Glu517=)
c.4619_4622delinsAGAG (p.Glu1540=)
c.4520_4523delinsAGAG (p.Glu1507=)
c.4490_4493delinsAGAG (p.Glu1497=)
c.4460_4463delinsAGAG (p.Glu1487=)
c.4331_4334delinsAGAG (p.Glu1444=)
c.4310_4313delinsAGAG (p.Glu1437=)
n.4605_4608delinsAGAG
6g.157200884G>ACA452977912ARID1Bc.4500G>A (p.Glu1500=)
c.4569G>A (p.Glu1523=)
c.4788G>A (p.Glu1596=)
c.4539G>A (p.Glu1513=)
c.4251G>A (p.Glu1417=)
c.2817G>A (p.Glu939=)
c.1980G>A (p.Glu660=)
c.1611G>A (p.Glu537=)
n.3122G>A
n.579G>A
c.4659G>A (p.Glu1553=)
n.2656G>A
c.2027G>A
c.1941G>A
n.1325G>A
c.2001G>A (p.Glu667=)
c.2160G>A (p.Glu720=)
c.4290G>A (p.Glu1430=)
c.4410G>A (p.Glu1470=)
c.3489G>A (p.Glu1163=)
c.3309G>A (p.Glu1103=)
c.3069G>A (p.Glu1023=)
c.2688G>A (p.Glu896=)
c.1551G>A (p.Glu517=)
c.4620G>A (p.Glu1540=)
c.4521G>A (p.Glu1507=)
c.4491G>A (p.Glu1497=)
c.4461G>A (p.Glu1487=)
c.4332G>A (p.Glu1444=)
c.4311G>A (p.Glu1437=)
n.4606G>A
6g.157200884G>CCA366241148ARID1Bc.4500G>C (p.Glu1500Asp)
c.4569G>C (p.Glu1523Asp)
c.4788G>C (p.Glu1596Asp)
c.4539G>C (p.Glu1513Asp)
c.4251G>C (p.Glu1417Asp)
c.2817G>C (p.Glu939Asp)
c.1980G>C (p.Glu660Asp)
c.1611G>C (p.Glu537Asp)
n.3122G>C
n.579G>C
c.4659G>C (p.Glu1553Asp)
n.2656G>C
c.2027G>C
c.1941G>C
n.1325G>C
c.2001G>C (p.Glu667Asp)
c.2160G>C (p.Glu720Asp)
c.4290G>C (p.Glu1430Asp)
c.4410G>C (p.Glu1470Asp)
c.3489G>C (p.Glu1163Asp)
c.3309G>C (p.Glu1103Asp)
c.3069G>C (p.Glu1023Asp)
c.2688G>C (p.Glu896Asp)
c.1551G>C (p.Glu517Asp)
c.4620G>C (p.Glu1540Asp)
c.4521G>C (p.Glu1507Asp)
c.4491G>C (p.Glu1497Asp)
c.4461G>C (p.Glu1487Asp)
c.4332G>C (p.Glu1444Asp)
c.4311G>C (p.Glu1437Asp)
n.4606G>C
6g.157200884G=CA1675543128ARID1Bc.4500G= (p.Glu1500=)
c.4569G= (p.Glu1523=)
c.4788G= (p.Glu1596=)
c.4539G= (p.Glu1513=)
c.4251G= (p.Glu1417=)
c.2817G= (p.Glu939=)
c.1980G= (p.Glu660=)
c.1611G= (p.Glu537=)
n.3122G=
n.579G=
c.4659G= (p.Glu1553=)
n.2656G=
c.2027G=
c.1941G=
n.1325G=
c.2001G= (p.Glu667=)
c.2160G= (p.Glu720=)
c.4290G= (p.Glu1430=)
c.4410G= (p.Glu1470=)
c.3489G= (p.Glu1163=)
c.3309G= (p.Glu1103=)
c.3069G= (p.Glu1023=)
c.2688G= (p.Glu896=)
c.1551G= (p.Glu517=)
c.4620G= (p.Glu1540=)
c.4521G= (p.Glu1507=)
c.4491G= (p.Glu1497=)
c.4461G= (p.Glu1487=)
c.4332G= (p.Glu1444=)
c.4311G= (p.Glu1437=)
n.4606G=
6g.157200884G>TCA366241149ARID1Bc.4500G>T (p.Glu1500Asp)
c.4569G>T (p.Glu1523Asp)
c.4788G>T (p.Glu1596Asp)
c.4539G>T (p.Glu1513Asp)
c.4251G>T (p.Glu1417Asp)
c.2817G>T (p.Glu939Asp)
c.1980G>T (p.Glu660Asp)
c.1611G>T (p.Glu537Asp)
n.3122G>T
n.579G>T
c.4659G>T (p.Glu1553Asp)
n.2656G>T
c.2027G>T
c.1941G>T
n.1325G>T
c.2001G>T (p.Glu667Asp)
c.2160G>T (p.Glu720Asp)
c.4290G>T (p.Glu1430Asp)
c.4410G>T (p.Glu1470Asp)
c.3489G>T (p.Glu1163Asp)
c.3309G>T (p.Glu1103Asp)
c.3069G>T (p.Glu1023Asp)
c.2688G>T (p.Glu896Asp)
c.1551G>T (p.Glu517Asp)
c.4620G>T (p.Glu1540Asp)
c.4521G>T (p.Glu1507Asp)
c.4491G>T (p.Glu1497Asp)
c.4461G>T (p.Glu1487Asp)
c.4332G>T (p.Glu1444Asp)
c.4311G>T (p.Glu1437Asp)
n.4606G>T
dbSNP gnomAD v4
6g.157200886_157200888delCA571903908ARID1Bc.4502_4504del (p.Arg1501del)
c.4571_4573del (p.Arg1524del)
c.4790_4792del (p.Arg1597del)
c.4541_4543del (p.Arg1514del)
c.4253_4255del (p.Arg1418del)
c.2819_2821del (p.Arg940del)
c.1982_1984del (p.Arg661del)
c.1613_1615del (p.Arg538del)
n.3124_3126del
n.581_583del
c.4661_4663del (p.Arg1554del)
n.2658_2660del
c.2029_2031del
c.1943_1945del
n.1327_1329del
c.2003_2005del (p.Arg668del)
c.2162_2164del (p.Arg721del)
c.4292_4294del (p.Arg1431del)
c.4412_4414del (p.Arg1471del)
c.3491_3493del (p.Arg1164del)
c.3311_3313del (p.Arg1104del)
c.3071_3073del (p.Arg1024del)
c.2690_2692del (p.Arg897del)
c.1553_1555del (p.Arg518del)
c.4622_4624del (p.Arg1541del)
c.4523_4525del (p.Arg1508del)
c.4493_4495del (p.Arg1498del)
c.4463_4465del (p.Arg1488del)
c.4334_4336del (p.Arg1445del)
c.4313_4315del (p.Arg1438del)
n.4608_4610del
dbSNP gnomAD v2 gnomAD v4
6g.157200885A=CA1675543129ARID1Bc.4501A= (p.Arg1501=)
c.4570A= (p.Arg1524=)
c.4789A= (p.Arg1597=)
c.4540A= (p.Arg1514=)
c.4252A= (p.Arg1418=)
c.2818A= (p.Arg940=)
c.1981A= (p.Arg661=)
c.1612A= (p.Arg538=)
n.3123A=
n.580A=
c.4660A= (p.Arg1554=)
n.2657A=
c.2028A=
c.1942A=
n.1326A=
c.2002A= (p.Arg668=)
c.2161A= (p.Arg721=)
c.4291A= (p.Arg1431=)
c.4411A= (p.Arg1471=)
c.3490A= (p.Arg1164=)
c.3310A= (p.Arg1104=)
c.3070A= (p.Arg1024=)
c.2689A= (p.Arg897=)
c.1552A= (p.Arg518=)
c.4621A= (p.Arg1541=)
c.4522A= (p.Arg1508=)
c.4492A= (p.Arg1498=)
c.4462A= (p.Arg1488=)
c.4333A= (p.Arg1445=)
c.4312A= (p.Arg1438=)
n.4607A=
6g.157200885A>CCA452977917ARID1Bc.4501A>C (p.Arg1501=)
c.4570A>C (p.Arg1524=)
c.4789A>C (p.Arg1597=)
c.4540A>C (p.Arg1514=)
c.4252A>C (p.Arg1418=)
c.2818A>C (p.Arg940=)
c.1981A>C (p.Arg661=)
c.1612A>C (p.Arg538=)
n.3123A>C
n.580A>C
c.4660A>C (p.Arg1554=)
n.2657A>C
c.2028A>C
c.1942A>C
n.1326A>C
c.2002A>C (p.Arg668=)
c.2161A>C (p.Arg721=)
c.4291A>C (p.Arg1431=)
c.4411A>C (p.Arg1471=)
c.3490A>C (p.Arg1164=)
c.3310A>C (p.Arg1104=)
c.3070A>C (p.Arg1024=)
c.2689A>C (p.Arg897=)
c.1552A>C (p.Arg518=)
c.4621A>C (p.Arg1541=)
c.4522A>C (p.Arg1508=)
c.4492A>C (p.Arg1498=)
c.4462A>C (p.Arg1488=)
c.4333A>C (p.Arg1445=)
c.4312A>C (p.Arg1438=)
n.4607A>C
6g.157200885A>GCA366241150ARID1Bc.4501A>G (p.Arg1501Gly)
c.4570A>G (p.Arg1524Gly)
c.4789A>G (p.Arg1597Gly)
c.4540A>G (p.Arg1514Gly)
c.4252A>G (p.Arg1418Gly)
c.2818A>G (p.Arg940Gly)
c.1981A>G (p.Arg661Gly)
c.1612A>G (p.Arg538Gly)
n.3123A>G
n.580A>G
c.4660A>G (p.Arg1554Gly)
n.2657A>G
c.2028A>G
c.1942A>G
n.1326A>G
c.2002A>G (p.Arg668Gly)
c.2161A>G (p.Arg721Gly)
c.4291A>G (p.Arg1431Gly)
c.4411A>G (p.Arg1471Gly)
c.3490A>G (p.Arg1164Gly)
c.3310A>G (p.Arg1104Gly)
c.3070A>G (p.Arg1024Gly)
c.2689A>G (p.Arg897Gly)
c.1552A>G (p.Arg518Gly)
c.4621A>G (p.Arg1541Gly)
c.4522A>G (p.Arg1508Gly)
c.4492A>G (p.Arg1498Gly)
c.4462A>G (p.Arg1488Gly)
c.4333A>G (p.Arg1445Gly)
c.4312A>G (p.Arg1438Gly)
n.4607A>G
dbSNP
6g.157200885A>TCA366241151ARID1Bc.4501A>T (p.Arg1501Trp)
c.4570A>T (p.Arg1524Trp)
c.4789A>T (p.Arg1597Trp)
c.4540A>T (p.Arg1514Trp)
c.4252A>T (p.Arg1418Trp)
c.2818A>T (p.Arg940Trp)
c.1981A>T (p.Arg661Trp)
c.1612A>T (p.Arg538Trp)
n.3123A>T
n.580A>T
c.4660A>T (p.Arg1554Trp)
n.2657A>T
c.2028A>T
c.1942A>T
n.1326A>T
c.2002A>T (p.Arg668Trp)
c.2161A>T (p.Arg721Trp)
c.4291A>T (p.Arg1431Trp)
c.4411A>T (p.Arg1471Trp)
c.3490A>T (p.Arg1164Trp)
c.3310A>T (p.Arg1104Trp)
c.3070A>T (p.Arg1024Trp)
c.2689A>T (p.Arg897Trp)
c.1552A>T (p.Arg518Trp)
c.4621A>T (p.Arg1541Trp)
c.4522A>T (p.Arg1508Trp)
c.4492A>T (p.Arg1498Trp)
c.4462A>T (p.Arg1488Trp)
c.4333A>T (p.Arg1445Trp)
c.4312A>T (p.Arg1438Trp)
n.4607A>T
6g.157200886G>ACA366241152ARID1Bc.4502G>A (p.Arg1501Lys)
c.4571G>A (p.Arg1524Lys)
c.4790G>A (p.Arg1597Lys)
c.4541G>A (p.Arg1514Lys)
c.4253G>A (p.Arg1418Lys)
c.2819G>A (p.Arg940Lys)
c.1982G>A (p.Arg661Lys)
c.1613G>A (p.Arg538Lys)
n.3124G>A
n.581G>A
c.4661G>A (p.Arg1554Lys)
n.2658G>A
c.2029G>A
c.1943G>A
n.1327G>A
c.2003G>A (p.Arg668Lys)
c.2162G>A (p.Arg721Lys)
c.4292G>A (p.Arg1431Lys)
c.4412G>A (p.Arg1471Lys)
c.3491G>A (p.Arg1164Lys)
c.3311G>A (p.Arg1104Lys)
c.3071G>A (p.Arg1024Lys)
c.2690G>A (p.Arg897Lys)
c.1553G>A (p.Arg518Lys)
c.4622G>A (p.Arg1541Lys)
c.4523G>A (p.Arg1508Lys)
c.4493G>A (p.Arg1498Lys)
c.4463G>A (p.Arg1488Lys)
c.4334G>A (p.Arg1445Lys)
c.4313G>A (p.Arg1438Lys)
n.4608G>A
dbSNP gnomAD v4
6g.157200886G>CCA366241153ARID1Bc.4502G>C (p.Arg1501Thr)
c.4571G>C (p.Arg1524Thr)
c.4790G>C (p.Arg1597Thr)
c.4541G>C (p.Arg1514Thr)
c.4253G>C (p.Arg1418Thr)
c.2819G>C (p.Arg940Thr)
c.1982G>C (p.Arg661Thr)
c.1613G>C (p.Arg538Thr)
n.3124G>C
n.581G>C
c.4661G>C (p.Arg1554Thr)
n.2658G>C
c.2029G>C
c.1943G>C
n.1327G>C
c.2003G>C (p.Arg668Thr)
c.2162G>C (p.Arg721Thr)
c.4292G>C (p.Arg1431Thr)
c.4412G>C (p.Arg1471Thr)
c.3491G>C (p.Arg1164Thr)
c.3311G>C (p.Arg1104Thr)
c.3071G>C (p.Arg1024Thr)
c.2690G>C (p.Arg897Thr)
c.1553G>C (p.Arg518Thr)
c.4622G>C (p.Arg1541Thr)
c.4523G>C (p.Arg1508Thr)
c.4493G>C (p.Arg1498Thr)
c.4463G>C (p.Arg1488Thr)
c.4334G>C (p.Arg1445Thr)
c.4313G>C (p.Arg1438Thr)
n.4608G>C
6g.157200886G>TCA366241154ARID1Bc.4502G>T (p.Arg1501Met)
c.4571G>T (p.Arg1524Met)
c.4790G>T (p.Arg1597Met)
c.4541G>T (p.Arg1514Met)
c.4253G>T (p.Arg1418Met)
c.2819G>T (p.Arg940Met)
c.1982G>T (p.Arg661Met)
c.1613G>T (p.Arg538Met)
n.3124G>T
n.581G>T
c.4661G>T (p.Arg1554Met)
n.2658G>T
c.2029G>T
c.1943G>T
n.1327G>T
c.2003G>T (p.Arg668Met)
c.2162G>T (p.Arg721Met)
c.4292G>T (p.Arg1431Met)
c.4412G>T (p.Arg1471Met)
c.3491G>T (p.Arg1164Met)
c.3311G>T (p.Arg1104Met)
c.3071G>T (p.Arg1024Met)
c.2690G>T (p.Arg897Met)
c.1553G>T (p.Arg518Met)
c.4622G>T (p.Arg1541Met)
c.4523G>T (p.Arg1508Met)
c.4493G>T (p.Arg1498Met)
c.4463G>T (p.Arg1488Met)
c.4334G>T (p.Arg1445Met)
c.4313G>T (p.Arg1438Met)
n.4608G>T
dbSNP
6g.157200888_157200895dupCA1139659896ARID1Bc.4504_4511dup (p.Pro1505CysfsTer16)
c.4573_4580dup (p.Pro1528CysfsTer16)
c.4792_4799dup (p.Pro1601CysfsTer16)
c.4543_4550dup (p.Pro1518CysfsTer16)
c.4255_4262dup (p.Pro1422CysfsTer16)
c.2821_2828dup (p.Pro944CysfsTer16)
c.1984_1991dup (p.Pro665CysfsTer16)
c.1615_1622dup (p.Pro542CysfsTer16)
n.3126_3133dup
n.583_590dup
c.4663_4670dup (p.Pro1558CysfsTer16)
n.2660_2667dup
c.2031_2038dup
c.1945_1952dup
n.1329_1336dup
c.2005_2012dup (p.Pro672CysfsTer16)
c.2164_2171dup (p.Pro725CysfsTer16)
c.4294_4301dup (p.Pro1435CysfsTer16)
c.4414_4421dup (p.Pro1475CysfsTer16)
c.3493_3500dup (p.Pro1168CysfsTer16)
c.3313_3320dup (p.Pro1108CysfsTer16)
c.3073_3080dup (p.Pro1028CysfsTer16)
c.2692_2699dup (p.Pro901CysfsTer16)
c.1555_1562dup (p.Pro522CysfsTer16)
c.4624_4631dup (p.Pro1545CysfsTer16)
c.4525_4532dup (p.Pro1512CysfsTer16)
c.4495_4502dup (p.Pro1502CysfsTer16)
c.4465_4472dup (p.Pro1492CysfsTer16)
c.4336_4343dup (p.Pro1449CysfsTer16)
c.4315_4322dup (p.Pro1442CysfsTer16)
n.4610_4617dup
ClinVar dbSNP
6g.157200887G>ACA452977922ARID1Bc.4503G>A (p.Arg1501=)
c.4572G>A (p.Arg1524=)
c.4791G>A (p.Arg1597=)
c.4542G>A (p.Arg1514=)
c.4254G>A (p.Arg1418=)
c.2820G>A (p.Arg940=)
c.1983G>A (p.Arg661=)
c.1614G>A (p.Arg538=)
n.3125G>A
n.582G>A
c.4662G>A (p.Arg1554=)
n.2659G>A
c.2030G>A
c.1944G>A
n.1328G>A
c.2004G>A (p.Arg668=)
c.2163G>A (p.Arg721=)
c.4293G>A (p.Arg1431=)
c.4413G>A (p.Arg1471=)
c.3492G>A (p.Arg1164=)
c.3312G>A (p.Arg1104=)
c.3072G>A (p.Arg1024=)
c.2691G>A (p.Arg897=)
c.1554G>A (p.Arg518=)
c.4623G>A (p.Arg1541=)
c.4524G>A (p.Arg1508=)
c.4494G>A (p.Arg1498=)
c.4464G>A (p.Arg1488=)
c.4335G>A (p.Arg1445=)
c.4314G>A (p.Arg1438=)
n.4609G>A
6g.157200887G>CCA366241155ARID1Bc.4503G>C (p.Arg1501Ser)
c.4572G>C (p.Arg1524Ser)
c.4791G>C (p.Arg1597Ser)
c.4542G>C (p.Arg1514Ser)
c.4254G>C (p.Arg1418Ser)
c.2820G>C (p.Arg940Ser)
c.1983G>C (p.Arg661Ser)
c.1614G>C (p.Arg538Ser)
n.3125G>C
n.582G>C
c.4662G>C (p.Arg1554Ser)
n.2659G>C
c.2030G>C
c.1944G>C
n.1328G>C
c.2004G>C (p.Arg668Ser)
c.2163G>C (p.Arg721Ser)
c.4293G>C (p.Arg1431Ser)
c.4413G>C (p.Arg1471Ser)
c.3492G>C (p.Arg1164Ser)
c.3312G>C (p.Arg1104Ser)
c.3072G>C (p.Arg1024Ser)
c.2691G>C (p.Arg897Ser)
c.1554G>C (p.Arg518Ser)
c.4623G>C (p.Arg1541Ser)
c.4524G>C (p.Arg1508Ser)
c.4494G>C (p.Arg1498Ser)
c.4464G>C (p.Arg1488Ser)
c.4335G>C (p.Arg1445Ser)
c.4314G>C (p.Arg1438Ser)
n.4609G>C
6g.157200887G>TCA366241156ARID1Bc.4503G>T (p.Arg1501Ser)
c.4572G>T (p.Arg1524Ser)
c.4791G>T (p.Arg1597Ser)
c.4542G>T (p.Arg1514Ser)
c.4254G>T (p.Arg1418Ser)
c.2820G>T (p.Arg940Ser)
c.1983G>T (p.Arg661Ser)
c.1614G>T (p.Arg538Ser)
n.3125G>T
n.582G>T
c.4662G>T (p.Arg1554Ser)
n.2659G>T
c.2030G>T
c.1944G>T
n.1328G>T
c.2004G>T (p.Arg668Ser)
c.2163G>T (p.Arg721Ser)
c.4293G>T (p.Arg1431Ser)
c.4413G>T (p.Arg1471Ser)
c.3492G>T (p.Arg1164Ser)
c.3312G>T (p.Arg1104Ser)
c.3072G>T (p.Arg1024Ser)
c.2691G>T (p.Arg897Ser)
c.1554G>T (p.Arg518Ser)
c.4623G>T (p.Arg1541Ser)
c.4524G>T (p.Arg1508Ser)
c.4494G>T (p.Arg1498Ser)
c.4464G>T (p.Arg1488Ser)
c.4335G>T (p.Arg1445Ser)
c.4314G>T (p.Arg1438Ser)
n.4609G>T
ClinVar
6g.157200888A=CA1675543130ARID1Bc.4504A= (p.Met1502=)
c.4573A= (p.Met1525=)
c.4792A= (p.Met1598=)
c.4543A= (p.Met1515=)
c.4255A= (p.Met1419=)
c.2821A= (p.Met941=)
c.1984A= (p.Met662=)
c.1615A= (p.Met539=)
n.3126A=
n.583A=
c.4663A= (p.Met1555=)
n.2660A=
c.2031A=
c.1945A=
n.1329A=
c.2005A= (p.Met669=)
c.2164A= (p.Met722=)
c.4294A= (p.Met1432=)
c.4414A= (p.Met1472=)
c.3493A= (p.Met1165=)
c.3313A= (p.Met1105=)
c.3073A= (p.Met1025=)
c.2692A= (p.Met898=)
c.1555A= (p.Met519=)
c.4624A= (p.Met1542=)
c.4525A= (p.Met1509=)
c.4495A= (p.Met1499=)
c.4465A= (p.Met1489=)
c.4336A= (p.Met1446=)
c.4315A= (p.Met1439=)
n.4610A=
6g.157200888A>CCA366241157ARID1Bc.4504A>C (p.Met1502Leu)
c.4573A>C (p.Met1525Leu)
c.4792A>C (p.Met1598Leu)
c.4543A>C (p.Met1515Leu)
c.4255A>C (p.Met1419Leu)
c.2821A>C (p.Met941Leu)
c.1984A>C (p.Met662Leu)
c.1615A>C (p.Met539Leu)
n.3126A>C
n.583A>C
c.4663A>C (p.Met1555Leu)
n.2660A>C
c.2031A>C
c.1945A>C
n.1329A>C
c.2005A>C (p.Met669Leu)
c.2164A>C (p.Met722Leu)
c.4294A>C (p.Met1432Leu)
c.4414A>C (p.Met1472Leu)
c.3493A>C (p.Met1165Leu)
c.3313A>C (p.Met1105Leu)
c.3073A>C (p.Met1025Leu)
c.2692A>C (p.Met898Leu)
c.1555A>C (p.Met519Leu)
c.4624A>C (p.Met1542Leu)
c.4525A>C (p.Met1509Leu)
c.4495A>C (p.Met1499Leu)
c.4465A>C (p.Met1489Leu)
c.4336A>C (p.Met1446Leu)
c.4315A>C (p.Met1439Leu)
n.4610A>C
6g.157200888A>GCA4067678ARID1Bc.4504A>G (p.Met1502Val)
c.4573A>G (p.Met1525Val)
c.4792A>G (p.Met1598Val)
c.4543A>G (p.Met1515Val)
c.4255A>G (p.Met1419Val)
c.2821A>G (p.Met941Val)
c.1984A>G (p.Met662Val)
c.1615A>G (p.Met539Val)
n.3126A>G
n.583A>G
c.4663A>G (p.Met1555Val)
n.2660A>G
c.2031A>G
c.1945A>G
n.1329A>G
c.2005A>G (p.Met669Val)
c.2164A>G (p.Met722Val)
c.4294A>G (p.Met1432Val)
c.4414A>G (p.Met1472Val)
c.3493A>G (p.Met1165Val)
c.3313A>G (p.Met1105Val)
c.3073A>G (p.Met1025Val)
c.2692A>G (p.Met898Val)
c.1555A>G (p.Met519Val)
c.4624A>G (p.Met1542Val)
c.4525A>G (p.Met1509Val)
c.4495A>G (p.Met1499Val)
c.4465A>G (p.Met1489Val)
c.4336A>G (p.Met1446Val)
c.4315A>G (p.Met1439Val)
n.4610A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.157200888A>TCA366241158ARID1Bc.4504A>T (p.Met1502Leu)
c.4573A>T (p.Met1525Leu)
c.4792A>T (p.Met1598Leu)
c.4543A>T (p.Met1515Leu)
c.4255A>T (p.Met1419Leu)
c.2821A>T (p.Met941Leu)
c.1984A>T (p.Met662Leu)
c.1615A>T (p.Met539Leu)
n.3126A>T
n.583A>T
c.4663A>T (p.Met1555Leu)
n.2660A>T
c.2031A>T
c.1945A>T
n.1329A>T
c.2005A>T (p.Met669Leu)
c.2164A>T (p.Met722Leu)
c.4294A>T (p.Met1432Leu)
c.4414A>T (p.Met1472Leu)
c.3493A>T (p.Met1165Leu)
c.3313A>T (p.Met1105Leu)
c.3073A>T (p.Met1025Leu)
c.2692A>T (p.Met898Leu)
c.1555A>T (p.Met519Leu)
c.4624A>T (p.Met1542Leu)
c.4525A>T (p.Met1509Leu)
c.4495A>T (p.Met1499Leu)
c.4465A>T (p.Met1489Leu)
c.4336A>T (p.Met1446Leu)
c.4315A>T (p.Met1439Leu)
n.4610A>T
gnomAD v4
6g.157200889T>ACA366241159ARID1Bc.4505T>A (p.Met1502Lys)
c.4574T>A (p.Met1525Lys)
c.4793T>A (p.Met1598Lys)
c.4544T>A (p.Met1515Lys)
c.4256T>A (p.Met1419Lys)
c.2822T>A (p.Met941Lys)
c.1985T>A (p.Met662Lys)
c.1616T>A (p.Met539Lys)
n.3127T>A
n.584T>A
c.4664T>A (p.Met1555Lys)
n.2661T>A
c.2032T>A
c.1946T>A
n.1330T>A
c.2006T>A (p.Met669Lys)
c.2165T>A (p.Met722Lys)
c.4295T>A (p.Met1432Lys)
c.4415T>A (p.Met1472Lys)
c.3494T>A (p.Met1165Lys)
c.3314T>A (p.Met1105Lys)
c.3074T>A (p.Met1025Lys)
c.2693T>A (p.Met898Lys)
c.1556T>A (p.Met519Lys)
c.4625T>A (p.Met1542Lys)
c.4526T>A (p.Met1509Lys)
c.4496T>A (p.Met1499Lys)
c.4466T>A (p.Met1489Lys)
c.4337T>A (p.Met1446Lys)
c.4316T>A (p.Met1439Lys)
n.4611T>A
6g.157200889T>CCA366241160ARID1Bc.4505T>C (p.Met1502Thr)
c.4574T>C (p.Met1525Thr)
c.4793T>C (p.Met1598Thr)
c.4544T>C (p.Met1515Thr)
c.4256T>C (p.Met1419Thr)
c.2822T>C (p.Met941Thr)
c.1985T>C (p.Met662Thr)
c.1616T>C (p.Met539Thr)
n.3127T>C
n.584T>C
c.4664T>C (p.Met1555Thr)
n.2661T>C
c.2032T>C
c.1946T>C
n.1330T>C
c.2006T>C (p.Met669Thr)
c.2165T>C (p.Met722Thr)
c.4295T>C (p.Met1432Thr)
c.4415T>C (p.Met1472Thr)
c.3494T>C (p.Met1165Thr)
c.3314T>C (p.Met1105Thr)
c.3074T>C (p.Met1025Thr)
c.2693T>C (p.Met898Thr)
c.1556T>C (p.Met519Thr)
c.4625T>C (p.Met1542Thr)
c.4526T>C (p.Met1509Thr)
c.4496T>C (p.Met1499Thr)
c.4466T>C (p.Met1489Thr)
c.4337T>C (p.Met1446Thr)
c.4316T>C (p.Met1439Thr)
n.4611T>C
gnomAD v4
6g.157200889T>GCA366241161ARID1Bc.4505T>G (p.Met1502Arg)
c.4574T>G (p.Met1525Arg)
c.4793T>G (p.Met1598Arg)
c.4544T>G (p.Met1515Arg)
c.4256T>G (p.Met1419Arg)
c.2822T>G (p.Met941Arg)
c.1985T>G (p.Met662Arg)
c.1616T>G (p.Met539Arg)
n.3127T>G
n.584T>G
c.4664T>G (p.Met1555Arg)
n.2661T>G
c.2032T>G
c.1946T>G
n.1330T>G
c.2006T>G (p.Met669Arg)
c.2165T>G (p.Met722Arg)
c.4295T>G (p.Met1432Arg)
c.4415T>G (p.Met1472Arg)
c.3494T>G (p.Met1165Arg)
c.3314T>G (p.Met1105Arg)
c.3074T>G (p.Met1025Arg)
c.2693T>G (p.Met898Arg)
c.1556T>G (p.Met519Arg)
c.4625T>G (p.Met1542Arg)
c.4526T>G (p.Met1509Arg)
c.4496T>G (p.Met1499Arg)
c.4466T>G (p.Met1489Arg)
c.4337T>G (p.Met1446Arg)
c.4316T>G (p.Met1439Arg)
n.4611T>G
dbSNP
6g.157200890G>ACA366241162ARID1Bc.4506G>A (p.Met1502Ile)
c.4575G>A (p.Met1525Ile)
c.4794G>A (p.Met1598Ile)
c.4545G>A (p.Met1515Ile)
c.4257G>A (p.Met1419Ile)
c.2823G>A (p.Met941Ile)
c.1986G>A (p.Met662Ile)
c.1617G>A (p.Met539Ile)
n.3128G>A
n.585G>A
c.4665G>A (p.Met1555Ile)
n.2662G>A
c.2033G>A
c.1947G>A
n.1331G>A
c.2007G>A (p.Met669Ile)
c.2166G>A (p.Met722Ile)
c.4296G>A (p.Met1432Ile)
c.4416G>A (p.Met1472Ile)
c.3495G>A (p.Met1165Ile)
c.3315G>A (p.Met1105Ile)
c.3075G>A (p.Met1025Ile)
c.2694G>A (p.Met898Ile)
c.1557G>A (p.Met519Ile)
c.4626G>A (p.Met1542Ile)
c.4527G>A (p.Met1509Ile)
c.4497G>A (p.Met1499Ile)
c.4467G>A (p.Met1489Ile)
c.4338G>A (p.Met1446Ile)
c.4317G>A (p.Met1439Ile)
n.4612G>A
dbSNP
6g.157200890G>CCA366241163ARID1Bc.4506G>C (p.Met1502Ile)
c.4575G>C (p.Met1525Ile)
c.4794G>C (p.Met1598Ile)
c.4545G>C (p.Met1515Ile)
c.4257G>C (p.Met1419Ile)
c.2823G>C (p.Met941Ile)
c.1986G>C (p.Met662Ile)
c.1617G>C (p.Met539Ile)
n.3128G>C
n.585G>C
c.4665G>C (p.Met1555Ile)
n.2662G>C
c.2033G>C
c.1947G>C
n.1331G>C
c.2007G>C (p.Met669Ile)
c.2166G>C (p.Met722Ile)
c.4296G>C (p.Met1432Ile)
c.4416G>C (p.Met1472Ile)
c.3495G>C (p.Met1165Ile)
c.3315G>C (p.Met1105Ile)
c.3075G>C (p.Met1025Ile)
c.2694G>C (p.Met898Ile)
c.1557G>C (p.Met519Ile)
c.4626G>C (p.Met1542Ile)
c.4527G>C (p.Met1509Ile)
c.4497G>C (p.Met1499Ile)
c.4467G>C (p.Met1489Ile)
c.4338G>C (p.Met1446Ile)
c.4317G>C (p.Met1439Ile)
n.4612G>C
6g.157200890G>TCA366241164ARID1Bc.4506G>T (p.Met1502Ile)
c.4575G>T (p.Met1525Ile)
c.4794G>T (p.Met1598Ile)
c.4545G>T (p.Met1515Ile)
c.4257G>T (p.Met1419Ile)
c.2823G>T (p.Met941Ile)
c.1986G>T (p.Met662Ile)
c.1617G>T (p.Met539Ile)
n.3128G>T
n.585G>T
c.4665G>T (p.Met1555Ile)
n.2662G>T
c.2033G>T
c.1947G>T
n.1331G>T
c.2007G>T (p.Met669Ile)
c.2166G>T (p.Met722Ile)
c.4296G>T (p.Met1432Ile)
c.4416G>T (p.Met1472Ile)
c.3495G>T (p.Met1165Ile)
c.3315G>T (p.Met1105Ile)
c.3075G>T (p.Met1025Ile)
c.2694G>T (p.Met898Ile)
c.1557G>T (p.Met519Ile)
c.4626G>T (p.Met1542Ile)
c.4527G>T (p.Met1509Ile)
c.4497G>T (p.Met1499Ile)
c.4467G>T (p.Met1489Ile)
c.4338G>T (p.Met1446Ile)
c.4317G>T (p.Met1439Ile)
n.4612G>T
6g.157200891C>ACA366241165ARID1Bc.4507C>A (p.Gln1503Lys)
c.4576C>A (p.Gln1526Lys)
c.4795C>A (p.Gln1599Lys)
c.4546C>A (p.Gln1516Lys)
c.4258C>A (p.Gln1420Lys)
c.2824C>A (p.Gln942Lys)
c.1987C>A (p.Gln663Lys)
c.1618C>A (p.Gln540Lys)
n.3129C>A
n.586C>A
c.4666C>A (p.Gln1556Lys)
n.2663C>A
c.2034C>A
c.1948C>A
n.1332C>A
c.2008C>A (p.Gln670Lys)
c.2167C>A (p.Gln723Lys)
c.4297C>A (p.Gln1433Lys)
c.4417C>A (p.Gln1473Lys)
c.3496C>A (p.Gln1166Lys)
c.3316C>A (p.Gln1106Lys)
c.3076C>A (p.Gln1026Lys)
c.2695C>A (p.Gln899Lys)
c.1558C>A (p.Gln520Lys)
c.4627C>A (p.Gln1543Lys)
c.4528C>A (p.Gln1510Lys)
c.4498C>A (p.Gln1500Lys)
c.4468C>A (p.Gln1490Lys)
c.4339C>A (p.Gln1447Lys)
c.4318C>A (p.Gln1440Lys)
n.4613C>A
dbSNP
6g.157200891C>GCA366241166ARID1Bc.4507C>G (p.Gln1503Glu)
c.4576C>G (p.Gln1526Glu)
c.4795C>G (p.Gln1599Glu)
c.4546C>G (p.Gln1516Glu)
c.4258C>G (p.Gln1420Glu)
c.2824C>G (p.Gln942Glu)
c.1987C>G (p.Gln663Glu)
c.1618C>G (p.Gln540Glu)
n.3129C>G
n.586C>G
c.4666C>G (p.Gln1556Glu)
n.2663C>G
c.2034C>G
c.1948C>G
n.1332C>G
c.2008C>G (p.Gln670Glu)
c.2167C>G (p.Gln723Glu)
c.4297C>G (p.Gln1433Glu)
c.4417C>G (p.Gln1473Glu)
c.3496C>G (p.Gln1166Glu)
c.3316C>G (p.Gln1106Glu)
c.3076C>G (p.Gln1026Glu)
c.2695C>G (p.Gln899Glu)
c.1558C>G (p.Gln520Glu)
c.4627C>G (p.Gln1543Glu)
c.4528C>G (p.Gln1510Glu)
c.4498C>G (p.Gln1500Glu)
c.4468C>G (p.Gln1490Glu)
c.4339C>G (p.Gln1447Glu)
c.4318C>G (p.Gln1440Glu)
n.4613C>G
6g.157200891C>TCA366241167ARID1Bc.4507C>T (p.Gln1503Ter)
c.4576C>T (p.Gln1526Ter)
c.4795C>T (p.Gln1599Ter)
c.4546C>T (p.Gln1516Ter)
c.4258C>T (p.Gln1420Ter)
c.2824C>T (p.Gln942Ter)
c.1987C>T (p.Gln663Ter)
c.1618C>T (p.Gln540Ter)
n.3129C>T
n.586C>T
c.4666C>T (p.Gln1556Ter)
n.2663C>T
c.2034C>T
c.1948C>T
n.1332C>T
c.2008C>T (p.Gln670Ter)
c.2167C>T (p.Gln723Ter)
c.4297C>T (p.Gln1433Ter)
c.4417C>T (p.Gln1473Ter)
c.3496C>T (p.Gln1166Ter)
c.3316C>T (p.Gln1106Ter)
c.3076C>T (p.Gln1026Ter)
c.2695C>T (p.Gln899Ter)
c.1558C>T (p.Gln520Ter)
c.4627C>T (p.Gln1543Ter)
c.4528C>T (p.Gln1510Ter)
c.4498C>T (p.Gln1500Ter)
c.4468C>T (p.Gln1490Ter)
c.4339C>T (p.Gln1447Ter)
c.4318C>T (p.Gln1440Ter)
n.4613C>T
dbSNP COSMIC COSMIC
6g.157200892A=CA1675543131ARID1Bc.4508A= (p.Gln1503=)
c.4577A= (p.Gln1526=)
c.4796A= (p.Gln1599=)
c.4547A= (p.Gln1516=)
c.4259A= (p.Gln1420=)
c.2825A= (p.Gln942=)
c.1988A= (p.Gln663=)
c.1619A= (p.Gln540=)
n.3130A=
n.587A=
c.4667A= (p.Gln1556=)
n.2664A=
c.2035A=
c.1949A=
n.1333A=
c.2009A= (p.Gln670=)
c.2168A= (p.Gln723=)
c.4298A= (p.Gln1433=)
c.4418A= (p.Gln1473=)
c.3497A= (p.Gln1166=)
c.3317A= (p.Gln1106=)
c.3077A= (p.Gln1026=)
c.2696A= (p.Gln899=)
c.1559A= (p.Gln520=)
c.4628A= (p.Gln1543=)
c.4529A= (p.Gln1510=)
c.4499A= (p.Gln1500=)
c.4469A= (p.Gln1490=)
c.4340A= (p.Gln1447=)
c.4319A= (p.Gln1440=)
n.4614A=
6g.157200892A>CCA366241170ARID1Bc.4508A>C (p.Gln1503Pro)
c.4577A>C (p.Gln1526Pro)
c.4796A>C (p.Gln1599Pro)
c.4547A>C (p.Gln1516Pro)
c.4259A>C (p.Gln1420Pro)
c.2825A>C (p.Gln942Pro)
c.1988A>C (p.Gln663Pro)
c.1619A>C (p.Gln540Pro)
n.3130A>C
n.587A>C
c.4667A>C (p.Gln1556Pro)
n.2664A>C
c.2035A>C
c.1949A>C
n.1333A>C
c.2009A>C (p.Gln670Pro)
c.2168A>C (p.Gln723Pro)
c.4298A>C (p.Gln1433Pro)
c.4418A>C (p.Gln1473Pro)
c.3497A>C (p.Gln1166Pro)
c.3317A>C (p.Gln1106Pro)
c.3077A>C (p.Gln1026Pro)
c.2696A>C (p.Gln899Pro)
c.1559A>C (p.Gln520Pro)
c.4628A>C (p.Gln1543Pro)
c.4529A>C (p.Gln1510Pro)
c.4499A>C (p.Gln1500Pro)
c.4469A>C (p.Gln1490Pro)
c.4340A>C (p.Gln1447Pro)
c.4319A>C (p.Gln1440Pro)
n.4614A>C
6g.157200892A>GCA366241169ARID1Bc.4508A>G (p.Gln1503Arg)
c.4577A>G (p.Gln1526Arg)
c.4796A>G (p.Gln1599Arg)
c.4547A>G (p.Gln1516Arg)
c.4259A>G (p.Gln1420Arg)
c.2825A>G (p.Gln942Arg)
c.1988A>G (p.Gln663Arg)
c.1619A>G (p.Gln540Arg)
n.3130A>G
n.587A>G
c.4667A>G (p.Gln1556Arg)
n.2664A>G
c.2035A>G
c.1949A>G
n.1333A>G
c.2009A>G (p.Gln670Arg)
c.2168A>G (p.Gln723Arg)
c.4298A>G (p.Gln1433Arg)
c.4418A>G (p.Gln1473Arg)
c.3497A>G (p.Gln1166Arg)
c.3317A>G (p.Gln1106Arg)
c.3077A>G (p.Gln1026Arg)
c.2696A>G (p.Gln899Arg)
c.1559A>G (p.Gln520Arg)
c.4628A>G (p.Gln1543Arg)
c.4529A>G (p.Gln1510Arg)
c.4499A>G (p.Gln1500Arg)
c.4469A>G (p.Gln1490Arg)
c.4340A>G (p.Gln1447Arg)
c.4319A>G (p.Gln1440Arg)
n.4614A>G
dbSNP
6g.157200892A>TCA366241168ARID1Bc.4508A>T (p.Gln1503Leu)
c.4577A>T (p.Gln1526Leu)
c.4796A>T (p.Gln1599Leu)
c.4547A>T (p.Gln1516Leu)
c.4259A>T (p.Gln1420Leu)
c.2825A>T (p.Gln942Leu)
c.1988A>T (p.Gln663Leu)
c.1619A>T (p.Gln540Leu)
n.3130A>T
n.587A>T
c.4667A>T (p.Gln1556Leu)
n.2664A>T
c.2035A>T
c.1949A>T
n.1333A>T
c.2009A>T (p.Gln670Leu)
c.2168A>T (p.Gln723Leu)
c.4298A>T (p.Gln1433Leu)
c.4418A>T (p.Gln1473Leu)
c.3497A>T (p.Gln1166Leu)
c.3317A>T (p.Gln1106Leu)
c.3077A>T (p.Gln1026Leu)
c.2696A>T (p.Gln899Leu)
c.1559A>T (p.Gln520Leu)
c.4628A>T (p.Gln1543Leu)
c.4529A>T (p.Gln1510Leu)
c.4499A>T (p.Gln1500Leu)
c.4469A>T (p.Gln1490Leu)
c.4340A>T (p.Gln1447Leu)
c.4319A>T (p.Gln1440Leu)
n.4614A>T
6g.157200893G>ACA4067679ARID1Bc.4509G>A (p.Gln1503=)
c.4578G>A (p.Gln1526=)
c.4797G>A (p.Gln1599=)
c.4548G>A (p.Gln1516=)
c.4260G>A (p.Gln1420=)
c.2826G>A (p.Gln942=)
c.1989G>A (p.Gln663=)
c.1620G>A (p.Gln540=)
n.3131G>A
n.588G>A
c.4668G>A (p.Gln1556=)
n.2665G>A
c.2036G>A
c.1950G>A
n.1334G>A
c.2010G>A (p.Gln670=)
c.2169G>A (p.Gln723=)
c.4299G>A (p.Gln1433=)
c.4419G>A (p.Gln1473=)
c.3498G>A (p.Gln1166=)
c.3318G>A (p.Gln1106=)
c.3078G>A (p.Gln1026=)
c.2697G>A (p.Gln899=)
c.1560G>A (p.Gln520=)
c.4629G>A (p.Gln1543=)
c.4530G>A (p.Gln1510=)
c.4500G>A (p.Gln1500=)
c.4470G>A (p.Gln1490=)
c.4341G>A (p.Gln1447=)
c.4320G>A (p.Gln1440=)
n.4615G>A
dbSNP ExAC gnomAD v2
6g.157200893G>CCA366241171ARID1Bc.4509G>C (p.Gln1503His)
c.4578G>C (p.Gln1526His)
c.4797G>C (p.Gln1599His)
c.4548G>C (p.Gln1516His)
c.4260G>C (p.Gln1420His)
c.2826G>C (p.Gln942His)
c.1989G>C (p.Gln663His)
c.1620G>C (p.Gln540His)
n.3131G>C
n.588G>C
c.4668G>C (p.Gln1556His)
n.2665G>C
c.2036G>C
c.1950G>C
n.1334G>C
c.2010G>C (p.Gln670His)
c.2169G>C (p.Gln723His)
c.4299G>C (p.Gln1433His)
c.4419G>C (p.Gln1473His)
c.3498G>C (p.Gln1166His)
c.3318G>C (p.Gln1106His)
c.3078G>C (p.Gln1026His)
c.2697G>C (p.Gln899His)
c.1560G>C (p.Gln520His)
c.4629G>C (p.Gln1543His)
c.4530G>C (p.Gln1510His)
c.4500G>C (p.Gln1500His)
c.4470G>C (p.Gln1490His)
c.4341G>C (p.Gln1447His)
c.4320G>C (p.Gln1440His)
n.4615G>C
6g.157200893G=CA1675543132ARID1Bc.4509G= (p.Gln1503=)
c.4578G= (p.Gln1526=)
c.4797G= (p.Gln1599=)
c.4548G= (p.Gln1516=)
c.4260G= (p.Gln1420=)
c.2826G= (p.Gln942=)
c.1989G= (p.Gln663=)
c.1620G= (p.Gln540=)
n.3131G=
n.588G=
c.4668G= (p.Gln1556=)
n.2665G=
c.2036G=
c.1950G=
n.1334G=
c.2010G= (p.Gln670=)
c.2169G= (p.Gln723=)
c.4299G= (p.Gln1433=)
c.4419G= (p.Gln1473=)
c.3498G= (p.Gln1166=)
c.3318G= (p.Gln1106=)
c.3078G= (p.Gln1026=)
c.2697G= (p.Gln899=)
c.1560G= (p.Gln520=)
c.4629G= (p.Gln1543=)
c.4530G= (p.Gln1510=)
c.4500G= (p.Gln1500=)
c.4470G= (p.Gln1490=)
c.4341G= (p.Gln1447=)
c.4320G= (p.Gln1440=)
n.4615G=
6g.157200893G>TCA366241172ARID1Bc.4509G>T (p.Gln1503His)
c.4578G>T (p.Gln1526His)
c.4797G>T (p.Gln1599His)
c.4548G>T (p.Gln1516His)
c.4260G>T (p.Gln1420His)
c.2826G>T (p.Gln942His)
c.1989G>T (p.Gln663His)
c.1620G>T (p.Gln540His)
n.3131G>T
n.588G>T
c.4668G>T (p.Gln1556His)
n.2665G>T
c.2036G>T
c.1950G>T
n.1334G>T
c.2010G>T (p.Gln670His)
c.2169G>T (p.Gln723His)
c.4299G>T (p.Gln1433His)
c.4419G>T (p.Gln1473His)
c.3498G>T (p.Gln1166His)
c.3318G>T (p.Gln1106His)
c.3078G>T (p.Gln1026His)
c.2697G>T (p.Gln899His)
c.1560G>T (p.Gln520His)
c.4629G>T (p.Gln1543His)
c.4530G>T (p.Gln1510His)
c.4500G>T (p.Gln1500His)
c.4470G>T (p.Gln1490His)
c.4341G>T (p.Gln1447His)
c.4320G>T (p.Gln1440His)
n.4615G>T
6g.157200894G>ACA366241173ARID1Bc.4510G>A (p.Gly1504Ser)
c.4579G>A (p.Gly1527Ser)
c.4798G>A (p.Gly1600Ser)
c.4549G>A (p.Gly1517Ser)
c.4261G>A (p.Gly1421Ser)
c.2827G>A (p.Gly943Ser)
c.1990G>A (p.Gly664Ser)
c.1621G>A (p.Gly541Ser)
n.3132G>A
n.589G>A
c.4669G>A (p.Gly1557Ser)
n.2666G>A
c.2037G>A
c.1951G>A
n.1335G>A
c.2011G>A (p.Gly671Ser)
c.2170G>A (p.Gly724Ser)
c.4300G>A (p.Gly1434Ser)
c.4420G>A (p.Gly1474Ser)
c.3499G>A (p.Gly1167Ser)
c.3319G>A (p.Gly1107Ser)
c.3079G>A (p.Gly1027Ser)
c.2698G>A (p.Gly900Ser)
c.1561G>A (p.Gly521Ser)
c.4630G>A (p.Gly1544Ser)
c.4531G>A (p.Gly1511Ser)
c.4501G>A (p.Gly1501Ser)
c.4471G>A (p.Gly1491Ser)
c.4342G>A (p.Gly1448Ser)
c.4321G>A (p.Gly1441Ser)
n.4616G>A
6g.157200894G>CCA366241174ARID1Bc.4510G>C (p.Gly1504Arg)
c.4579G>C (p.Gly1527Arg)
c.4798G>C (p.Gly1600Arg)
c.4549G>C (p.Gly1517Arg)
c.4261G>C (p.Gly1421Arg)
c.2827G>C (p.Gly943Arg)
c.1990G>C (p.Gly664Arg)
c.1621G>C (p.Gly541Arg)
n.3132G>C
n.589G>C
c.4669G>C (p.Gly1557Arg)
n.2666G>C
c.2037G>C
c.1951G>C
n.1335G>C
c.2011G>C (p.Gly671Arg)
c.2170G>C (p.Gly724Arg)
c.4300G>C (p.Gly1434Arg)
c.4420G>C (p.Gly1474Arg)
c.3499G>C (p.Gly1167Arg)
c.3319G>C (p.Gly1107Arg)
c.3079G>C (p.Gly1027Arg)
c.2698G>C (p.Gly900Arg)
c.1561G>C (p.Gly521Arg)
c.4630G>C (p.Gly1544Arg)
c.4531G>C (p.Gly1511Arg)
c.4501G>C (p.Gly1501Arg)
c.4471G>C (p.Gly1491Arg)
c.4342G>C (p.Gly1448Arg)
c.4321G>C (p.Gly1441Arg)
n.4616G>C
6g.157200894G>TCA366241175ARID1Bc.4510G>T (p.Gly1504Cys)
c.4579G>T (p.Gly1527Cys)
c.4798G>T (p.Gly1600Cys)
c.4549G>T (p.Gly1517Cys)
c.4261G>T (p.Gly1421Cys)
c.2827G>T (p.Gly943Cys)
c.1990G>T (p.Gly664Cys)
c.1621G>T (p.Gly541Cys)
n.3132G>T
n.589G>T
c.4669G>T (p.Gly1557Cys)
n.2666G>T
c.2037G>T
c.1951G>T
n.1335G>T
c.2011G>T (p.Gly671Cys)
c.2170G>T (p.Gly724Cys)
c.4300G>T (p.Gly1434Cys)
c.4420G>T (p.Gly1474Cys)
c.3499G>T (p.Gly1167Cys)
c.3319G>T (p.Gly1107Cys)
c.3079G>T (p.Gly1027Cys)
c.2698G>T (p.Gly900Cys)
c.1561G>T (p.Gly521Cys)
c.4630G>T (p.Gly1544Cys)
c.4531G>T (p.Gly1511Cys)
c.4501G>T (p.Gly1501Cys)
c.4471G>T (p.Gly1491Cys)
c.4342G>T (p.Gly1448Cys)
c.4321G>T (p.Gly1441Cys)
n.4616G>T
6g.157200895G>ACA366241176ARID1Bc.4511G>A (p.Gly1504Asp)
c.4580G>A (p.Gly1527Asp)
c.4799G>A (p.Gly1600Asp)
c.4550G>A (p.Gly1517Asp)
c.4262G>A (p.Gly1421Asp)
c.2828G>A (p.Gly943Asp)
c.1991G>A (p.Gly664Asp)
c.1622G>A (p.Gly541Asp)
n.3133G>A
n.590G>A
c.4670G>A (p.Gly1557Asp)
n.2667G>A
c.2038G>A
c.1952G>A
n.1336G>A
c.2012G>A (p.Gly671Asp)
c.2171G>A (p.Gly724Asp)
c.4301G>A (p.Gly1434Asp)
c.4421G>A (p.Gly1474Asp)
c.3500G>A (p.Gly1167Asp)
c.3320G>A (p.Gly1107Asp)
c.3080G>A (p.Gly1027Asp)
c.2699G>A (p.Gly900Asp)
c.1562G>A (p.Gly521Asp)
c.4631G>A (p.Gly1544Asp)
c.4532G>A (p.Gly1511Asp)
c.4502G>A (p.Gly1501Asp)
c.4472G>A (p.Gly1491Asp)
c.4343G>A (p.Gly1448Asp)
c.4322G>A (p.Gly1441Asp)
n.4617G>A
dbSNP
6g.157200895G>CCA366241177ARID1Bc.4511G>C (p.Gly1504Ala)
c.4580G>C (p.Gly1527Ala)
c.4799G>C (p.Gly1600Ala)
c.4550G>C (p.Gly1517Ala)
c.4262G>C (p.Gly1421Ala)
c.2828G>C (p.Gly943Ala)
c.1991G>C (p.Gly664Ala)
c.1622G>C (p.Gly541Ala)
n.3133G>C
n.590G>C
c.4670G>C (p.Gly1557Ala)
n.2667G>C
c.2038G>C
c.1952G>C
n.1336G>C
c.2012G>C (p.Gly671Ala)
c.2171G>C (p.Gly724Ala)
c.4301G>C (p.Gly1434Ala)
c.4421G>C (p.Gly1474Ala)
c.3500G>C (p.Gly1167Ala)
c.3320G>C (p.Gly1107Ala)
c.3080G>C (p.Gly1027Ala)
c.2699G>C (p.Gly900Ala)
c.1562G>C (p.Gly521Ala)
c.4631G>C (p.Gly1544Ala)
c.4532G>C (p.Gly1511Ala)
c.4502G>C (p.Gly1501Ala)
c.4472G>C (p.Gly1491Ala)
c.4343G>C (p.Gly1448Ala)
c.4322G>C (p.Gly1441Ala)
n.4617G>C
6g.157200895G>TCA366241178ARID1Bc.4511G>T (p.Gly1504Val)
c.4580G>T (p.Gly1527Val)
c.4799G>T (p.Gly1600Val)
c.4550G>T (p.Gly1517Val)
c.4262G>T (p.Gly1421Val)
c.2828G>T (p.Gly943Val)
c.1991G>T (p.Gly664Val)
c.1622G>T (p.Gly541Val)
n.3133G>T
n.590G>T
c.4670G>T (p.Gly1557Val)
n.2667G>T
c.2038G>T
c.1952G>T
n.1336G>T
c.2012G>T (p.Gly671Val)
c.2171G>T (p.Gly724Val)
c.4301G>T (p.Gly1434Val)
c.4421G>T (p.Gly1474Val)
c.3500G>T (p.Gly1167Val)
c.3320G>T (p.Gly1107Val)
c.3080G>T (p.Gly1027Val)
c.2699G>T (p.Gly900Val)
c.1562G>T (p.Gly521Val)
c.4631G>T (p.Gly1544Val)
c.4532G>T (p.Gly1511Val)
c.4502G>T (p.Gly1501Val)
c.4472G>T (p.Gly1491Val)
c.4343G>T (p.Gly1448Val)
c.4322G>T (p.Gly1441Val)
n.4617G>T
6g.157200896C>ACA452977941ARID1Bc.4512C>A (p.Gly1504=)
c.4581C>A (p.Gly1527=)
c.4800C>A (p.Gly1600=)
c.4551C>A (p.Gly1517=)
c.4263C>A (p.Gly1421=)
c.2829C>A (p.Gly943=)
c.1992C>A (p.Gly664=)
c.1623C>A (p.Gly541=)
n.3134C>A
n.591C>A
c.4671C>A (p.Gly1557=)
n.2668C>A
c.2039C>A
c.1953C>A
n.1337C>A
c.2013C>A (p.Gly671=)
c.2172C>A (p.Gly724=)
c.4302C>A (p.Gly1434=)
c.4422C>A (p.Gly1474=)
c.3501C>A (p.Gly1167=)
c.3321C>A (p.Gly1107=)
c.3081C>A (p.Gly1027=)
c.2700C>A (p.Gly900=)
c.1563C>A (p.Gly521=)
c.4632C>A (p.Gly1544=)
c.4533C>A (p.Gly1511=)
c.4503C>A (p.Gly1501=)
c.4473C>A (p.Gly1491=)
c.4344C>A (p.Gly1448=)
c.4323C>A (p.Gly1441=)
n.4618C>A
dbSNP
6g.157200896C=CA1675543133ARID1Bc.4512C= (p.Gly1504=)
c.4581C= (p.Gly1527=)
c.4800C= (p.Gly1600=)
c.4551C= (p.Gly1517=)
c.4263C= (p.Gly1421=)
c.2829C= (p.Gly943=)
c.1992C= (p.Gly664=)
c.1623C= (p.Gly541=)
n.3134C=
n.591C=
c.4671C= (p.Gly1557=)
n.2668C=
c.2039C=
c.1953C=
n.1337C=
c.2013C= (p.Gly671=)
c.2172C= (p.Gly724=)
c.4302C= (p.Gly1434=)
c.4422C= (p.Gly1474=)
c.3501C= (p.Gly1167=)
c.3321C= (p.Gly1107=)
c.3081C= (p.Gly1027=)
c.2700C= (p.Gly900=)
c.1563C= (p.Gly521=)
c.4632C= (p.Gly1544=)
c.4533C= (p.Gly1511=)
c.4503C= (p.Gly1501=)
c.4473C= (p.Gly1491=)
c.4344C= (p.Gly1448=)
c.4323C= (p.Gly1441=)
n.4618C=
6g.157200896C>GCA452977942ARID1Bc.4512C>G (p.Gly1504=)
c.4581C>G (p.Gly1527=)
c.4800C>G (p.Gly1600=)
c.4551C>G (p.Gly1517=)
c.4263C>G (p.Gly1421=)
c.2829C>G (p.Gly943=)
c.1992C>G (p.Gly664=)
c.1623C>G (p.Gly541=)
n.3134C>G
n.591C>G
c.4671C>G (p.Gly1557=)
n.2668C>G
c.2039C>G
c.1953C>G
n.1337C>G
c.2013C>G (p.Gly671=)
c.2172C>G (p.Gly724=)
c.4302C>G (p.Gly1434=)
c.4422C>G (p.Gly1474=)
c.3501C>G (p.Gly1167=)
c.3321C>G (p.Gly1107=)
c.3081C>G (p.Gly1027=)
c.2700C>G (p.Gly900=)
c.1563C>G (p.Gly521=)
c.4632C>G (p.Gly1544=)
c.4533C>G (p.Gly1511=)
c.4503C>G (p.Gly1501=)
c.4473C>G (p.Gly1491=)
c.4344C>G (p.Gly1448=)
c.4323C>G (p.Gly1441=)
n.4618C>G
dbSNP
6g.157200896C>TCA452977944ARID1Bc.4512C>T (p.Gly1504=)
c.4581C>T (p.Gly1527=)
c.4800C>T (p.Gly1600=)
c.4551C>T (p.Gly1517=)
c.4263C>T (p.Gly1421=)
c.2829C>T (p.Gly943=)
c.1992C>T (p.Gly664=)
c.1623C>T (p.Gly541=)
n.3134C>T
n.591C>T
c.4671C>T (p.Gly1557=)
n.2668C>T
c.2039C>T
c.1953C>T
n.1337C>T
c.2013C>T (p.Gly671=)
c.2172C>T (p.Gly724=)
c.4302C>T (p.Gly1434=)
c.4422C>T (p.Gly1474=)
c.3501C>T (p.Gly1167=)
c.3321C>T (p.Gly1107=)
c.3081C>T (p.Gly1027=)
c.2700C>T (p.Gly900=)
c.1563C>T (p.Gly521=)
c.4632C>T (p.Gly1544=)
c.4533C>T (p.Gly1511=)
c.4503C>T (p.Gly1501=)
c.4473C>T (p.Gly1491=)
c.4344C>T (p.Gly1448=)
c.4323C>T (p.Gly1441=)
n.4618C>T
dbSNP gnomAD v4
6g.157200898dupCA2695207264ARID1Bc.4514dup (p.Gln1507AlafsTer22)
c.4583dup (p.Gln1530AlafsTer22)
c.4802dup (p.Gln1603AlafsTer22)
c.4553dup (p.Gln1520AlafsTer22)
c.4265dup (p.Gln1424AlafsTer22)
c.2831dup (p.Gln946AlafsTer22)
c.1994dup (p.Gln667AlafsTer22)
c.1625dup (p.Gln544AlafsTer22)
n.3136dup
n.593dup
c.4673dup (p.Gln1560AlafsTer22)
n.2670dup
c.2041dup
c.1955dup
n.1339dup
c.2015dup (p.Gln674AlafsTer22)
c.2174dup (p.Gln727AlafsTer22)
c.4304dup (p.Gln1437AlafsTer22)
c.4424dup (p.Gln1477AlafsTer22)
c.3503dup (p.Gln1170AlafsTer22)
c.3323dup (p.Gln1110AlafsTer22)
c.3083dup (p.Gln1030AlafsTer22)
c.2702dup (p.Gln903AlafsTer22)
c.1565dup (p.Gln524AlafsTer22)
c.4634dup (p.Gln1547AlafsTer22)
c.4535dup (p.Gln1514AlafsTer22)
c.4505dup (p.Gln1504AlafsTer22)
c.4475dup (p.Gln1494AlafsTer22)
c.4346dup (p.Gln1451AlafsTer22)
c.4325dup (p.Gln1444AlafsTer22)
n.4620dup
6g.157200897C>ACA366241179ARID1Bc.4513C>A (p.Pro1505Thr)
c.4582C>A (p.Pro1528Thr)
c.4801C>A (p.Pro1601Thr)
c.4552C>A (p.Pro1518Thr)
c.4264C>A (p.Pro1422Thr)
c.2830C>A (p.Pro944Thr)
c.1993C>A (p.Pro665Thr)
c.1624C>A (p.Pro542Thr)
n.3135C>A
n.592C>A
c.4672C>A (p.Pro1558Thr)
n.2669C>A
c.2040C>A
c.1954C>A
n.1338C>A
c.2014C>A (p.Pro672Thr)
c.2173C>A (p.Pro725Thr)
c.4303C>A (p.Pro1435Thr)
c.4423C>A (p.Pro1475Thr)
c.3502C>A (p.Pro1168Thr)
c.3322C>A (p.Pro1108Thr)
c.3082C>A (p.Pro1028Thr)
c.2701C>A (p.Pro901Thr)
c.1564C>A (p.Pro522Thr)
c.4633C>A (p.Pro1545Thr)
c.4534C>A (p.Pro1512Thr)
c.4504C>A (p.Pro1502Thr)
c.4474C>A (p.Pro1492Thr)
c.4345C>A (p.Pro1449Thr)
c.4324C>A (p.Pro1442Thr)
n.4619C>A
6g.157200897C=CA1675543134ARID1Bc.4513C= (p.Pro1505=)
c.4582C= (p.Pro1528=)
c.4801C= (p.Pro1601=)
c.4552C= (p.Pro1518=)
c.4264C= (p.Pro1422=)
c.2830C= (p.Pro944=)
c.1993C= (p.Pro665=)
c.1624C= (p.Pro542=)
n.3135C=
n.592C=
c.4672C= (p.Pro1558=)
n.2669C=
c.2040C=
c.1954C=
n.1338C=
c.2014C= (p.Pro672=)
c.2173C= (p.Pro725=)
c.4303C= (p.Pro1435=)
c.4423C= (p.Pro1475=)
c.3502C= (p.Pro1168=)
c.3322C= (p.Pro1108=)
c.3082C= (p.Pro1028=)
c.2701C= (p.Pro901=)
c.1564C= (p.Pro522=)
c.4633C= (p.Pro1545=)
c.4534C= (p.Pro1512=)
c.4504C= (p.Pro1502=)
c.4474C= (p.Pro1492=)
c.4345C= (p.Pro1449=)
c.4324C= (p.Pro1442=)
n.4619C=
6g.157200897C>GCA366241180ARID1Bc.4513C>G (p.Pro1505Ala)
c.4582C>G (p.Pro1528Ala)
c.4801C>G (p.Pro1601Ala)
c.4552C>G (p.Pro1518Ala)
c.4264C>G (p.Pro1422Ala)
c.2830C>G (p.Pro944Ala)
c.1993C>G (p.Pro665Ala)
c.1624C>G (p.Pro542Ala)
n.3135C>G
n.592C>G
c.4672C>G (p.Pro1558Ala)
n.2669C>G
c.2040C>G
c.1954C>G
n.1338C>G
c.2014C>G (p.Pro672Ala)
c.2173C>G (p.Pro725Ala)
c.4303C>G (p.Pro1435Ala)
c.4423C>G (p.Pro1475Ala)
c.3502C>G (p.Pro1168Ala)
c.3322C>G (p.Pro1108Ala)
c.3082C>G (p.Pro1028Ala)
c.2701C>G (p.Pro901Ala)
c.1564C>G (p.Pro522Ala)
c.4633C>G (p.Pro1545Ala)
c.4534C>G (p.Pro1512Ala)
c.4504C>G (p.Pro1502Ala)
c.4474C>G (p.Pro1492Ala)
c.4345C>G (p.Pro1449Ala)
c.4324C>G (p.Pro1442Ala)
n.4619C>G
6g.157200897C>TCA366241181ARID1Bc.4513C>T (p.Pro1505Ser)
c.4582C>T (p.Pro1528Ser)
c.4801C>T (p.Pro1601Ser)
c.4552C>T (p.Pro1518Ser)
c.4264C>T (p.Pro1422Ser)
c.2830C>T (p.Pro944Ser)
c.1993C>T (p.Pro665Ser)
c.1624C>T (p.Pro542Ser)
n.3135C>T
n.592C>T
c.4672C>T (p.Pro1558Ser)
n.2669C>T
c.2040C>T
c.1954C>T
n.1338C>T
c.2014C>T (p.Pro672Ser)
c.2173C>T (p.Pro725Ser)
c.4303C>T (p.Pro1435Ser)
c.4423C>T (p.Pro1475Ser)
c.3502C>T (p.Pro1168Ser)
c.3322C>T (p.Pro1108Ser)
c.3082C>T (p.Pro1028Ser)
c.2701C>T (p.Pro901Ser)
c.1564C>T (p.Pro522Ser)
c.4633C>T (p.Pro1545Ser)
c.4534C>T (p.Pro1512Ser)
c.4504C>T (p.Pro1502Ser)
c.4474C>T (p.Pro1492Ser)
c.4345C>T (p.Pro1449Ser)
c.4324C>T (p.Pro1442Ser)
n.4619C>T
dbSNP
6g.157200898C>ACA366241182ARID1Bc.4514C>A (p.Pro1505Gln)
c.4583C>A (p.Pro1528Gln)
c.4802C>A (p.Pro1601Gln)
c.4553C>A (p.Pro1518Gln)
c.4265C>A (p.Pro1422Gln)
c.2831C>A (p.Pro944Gln)
c.1994C>A (p.Pro665Gln)
c.1625C>A (p.Pro542Gln)
n.3136C>A
n.593C>A
c.4673C>A (p.Pro1558Gln)
n.2670C>A
c.2041C>A
c.1955C>A
n.1339C>A
c.2015C>A (p.Pro672Gln)
c.2174C>A (p.Pro725Gln)
c.4304C>A (p.Pro1435Gln)
c.4424C>A (p.Pro1475Gln)
c.3503C>A (p.Pro1168Gln)
c.3323C>A (p.Pro1108Gln)
c.3083C>A (p.Pro1028Gln)
c.2702C>A (p.Pro901Gln)
c.1565C>A (p.Pro522Gln)
c.4634C>A (p.Pro1545Gln)
c.4535C>A (p.Pro1512Gln)
c.4505C>A (p.Pro1502Gln)
c.4475C>A (p.Pro1492Gln)
c.4346C>A (p.Pro1449Gln)
c.4325C>A (p.Pro1442Gln)
n.4620C>A
6g.157200898C=CA1675543135ARID1Bc.4514C= (p.Pro1505=)
c.4583C= (p.Pro1528=)
c.4802C= (p.Pro1601=)
c.4553C= (p.Pro1518=)
c.4265C= (p.Pro1422=)
c.2831C= (p.Pro944=)
c.1994C= (p.Pro665=)
c.1625C= (p.Pro542=)
n.3136C=
n.593C=
c.4673C= (p.Pro1558=)
n.2670C=
c.2041C=
c.1955C=
n.1339C=
c.2015C= (p.Pro672=)
c.2174C= (p.Pro725=)
c.4304C= (p.Pro1435=)
c.4424C= (p.Pro1475=)
c.3503C= (p.Pro1168=)
c.3323C= (p.Pro1108=)
c.3083C= (p.Pro1028=)
c.2702C= (p.Pro901=)
c.1565C= (p.Pro522=)
c.4634C= (p.Pro1545=)
c.4535C= (p.Pro1512=)
c.4505C= (p.Pro1502=)
c.4475C= (p.Pro1492=)
c.4346C= (p.Pro1449=)
c.4325C= (p.Pro1442=)
n.4620C=
6g.157200898C>GCA366241183ARID1Bc.4514C>G (p.Pro1505Arg)
c.4583C>G (p.Pro1528Arg)
c.4802C>G (p.Pro1601Arg)
c.4553C>G (p.Pro1518Arg)
c.4265C>G (p.Pro1422Arg)
c.2831C>G (p.Pro944Arg)
c.1994C>G (p.Pro665Arg)
c.1625C>G (p.Pro542Arg)
n.3136C>G
n.593C>G
c.4673C>G (p.Pro1558Arg)
n.2670C>G
c.2041C>G
c.1955C>G
n.1339C>G
c.2015C>G (p.Pro672Arg)
c.2174C>G (p.Pro725Arg)
c.4304C>G (p.Pro1435Arg)
c.4424C>G (p.Pro1475Arg)
c.3503C>G (p.Pro1168Arg)
c.3323C>G (p.Pro1108Arg)
c.3083C>G (p.Pro1028Arg)
c.2702C>G (p.Pro901Arg)
c.1565C>G (p.Pro522Arg)
c.4634C>G (p.Pro1545Arg)
c.4535C>G (p.Pro1512Arg)
c.4505C>G (p.Pro1502Arg)
c.4475C>G (p.Pro1492Arg)
c.4346C>G (p.Pro1449Arg)
c.4325C>G (p.Pro1442Arg)
n.4620C>G
6g.157200898C>TCA366241184ARID1Bc.4514C>T (p.Pro1505Leu)
c.4583C>T (p.Pro1528Leu)
c.4802C>T (p.Pro1601Leu)
c.4553C>T (p.Pro1518Leu)
c.4265C>T (p.Pro1422Leu)
c.2831C>T (p.Pro944Leu)
c.1994C>T (p.Pro665Leu)
c.1625C>T (p.Pro542Leu)
n.3136C>T
n.593C>T
c.4673C>T (p.Pro1558Leu)
n.2670C>T
c.2041C>T
c.1955C>T
n.1339C>T
c.2015C>T (p.Pro672Leu)
c.2174C>T (p.Pro725Leu)
c.4304C>T (p.Pro1435Leu)
c.4424C>T (p.Pro1475Leu)
c.3503C>T (p.Pro1168Leu)
c.3323C>T (p.Pro1108Leu)
c.3083C>T (p.Pro1028Leu)
c.2702C>T (p.Pro901Leu)
c.1565C>T (p.Pro522Leu)
c.4634C>T (p.Pro1545Leu)
c.4535C>T (p.Pro1512Leu)
c.4505C>T (p.Pro1502Leu)
c.4475C>T (p.Pro1492Leu)
c.4346C>T (p.Pro1449Leu)
c.4325C>T (p.Pro1442Leu)
n.4620C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
6g.157200899G>ACA4067680ARID1Bc.4515G>A (p.Pro1505=)
c.4584G>A (p.Pro1528=)
c.4803G>A (p.Pro1601=)
c.4554G>A (p.Pro1518=)
c.4266G>A (p.Pro1422=)
c.2832G>A (p.Pro944=)
c.1995G>A (p.Pro665=)
c.1626G>A (p.Pro542=)
n.3137G>A
n.594G>A
c.4674G>A (p.Pro1558=)
n.2671G>A
c.2042G>A
c.1956G>A
n.1340G>A
c.2016G>A (p.Pro672=)
c.2175G>A (p.Pro725=)
c.4305G>A (p.Pro1435=)
c.4425G>A (p.Pro1475=)
c.3504G>A (p.Pro1168=)
c.3324G>A (p.Pro1108=)
c.3084G>A (p.Pro1028=)
c.2703G>A (p.Pro901=)
c.1566G>A (p.Pro522=)
c.4635G>A (p.Pro1545=)
c.4536G>A (p.Pro1512=)
c.4506G>A (p.Pro1502=)
c.4476G>A (p.Pro1492=)
c.4347G>A (p.Pro1449=)
c.4326G>A (p.Pro1442=)
n.4621G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.157200899G>CCA4067681ARID1Bc.4515G>C (p.Pro1505=)
c.4584G>C (p.Pro1528=)
c.4803G>C (p.Pro1601=)
c.4554G>C (p.Pro1518=)
c.4266G>C (p.Pro1422=)
c.2832G>C (p.Pro944=)
c.1995G>C (p.Pro665=)
c.1626G>C (p.Pro542=)
n.3137G>C
n.594G>C
c.4674G>C (p.Pro1558=)
n.2671G>C
c.2042G>C
c.1956G>C
n.1340G>C
c.2016G>C (p.Pro672=)
c.2175G>C (p.Pro725=)
c.4305G>C (p.Pro1435=)
c.4425G>C (p.Pro1475=)
c.3504G>C (p.Pro1168=)
c.3324G>C (p.Pro1108=)
c.3084G>C (p.Pro1028=)
c.2703G>C (p.Pro901=)
c.1566G>C (p.Pro522=)
c.4635G>C (p.Pro1545=)
c.4536G>C (p.Pro1512=)
c.4506G>C (p.Pro1502=)
c.4476G>C (p.Pro1492=)
c.4347G>C (p.Pro1449=)
c.4326G>C (p.Pro1442=)
n.4621G>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.157200899G=CA1675543136ARID1Bc.4515G= (p.Pro1505=)
c.4584G= (p.Pro1528=)
c.4803G= (p.Pro1601=)
c.4554G= (p.Pro1518=)
c.4266G= (p.Pro1422=)
c.2832G= (p.Pro944=)
c.1995G= (p.Pro665=)
c.1626G= (p.Pro542=)
n.3137G=
n.594G=
c.4674G= (p.Pro1558=)
n.2671G=
c.2042G=
c.1956G=
n.1340G=
c.2016G= (p.Pro672=)
c.2175G= (p.Pro725=)
c.4305G= (p.Pro1435=)
c.4425G= (p.Pro1475=)
c.3504G= (p.Pro1168=)
c.3324G= (p.Pro1108=)
c.3084G= (p.Pro1028=)
c.2703G= (p.Pro901=)
c.1566G= (p.Pro522=)
c.4635G= (p.Pro1545=)
c.4536G= (p.Pro1512=)
c.4506G= (p.Pro1502=)
c.4476G= (p.Pro1492=)
c.4347G= (p.Pro1449=)
c.4326G= (p.Pro1442=)
n.4621G=
6g.157200899G>TCA452977949ARID1Bc.4515G>T (p.Pro1505=)
c.4584G>T (p.Pro1528=)
c.4803G>T (p.Pro1601=)
c.4554G>T (p.Pro1518=)
c.4266G>T (p.Pro1422=)
c.2832G>T (p.Pro944=)
c.1995G>T (p.Pro665=)
c.1626G>T (p.Pro542=)
n.3137G>T
n.594G>T
c.4674G>T (p.Pro1558=)
n.2671G>T
c.2042G>T
c.1956G>T
n.1340G>T
c.2016G>T (p.Pro672=)
c.2175G>T (p.Pro725=)
c.4305G>T (p.Pro1435=)
c.4425G>T (p.Pro1475=)
c.3504G>T (p.Pro1168=)
c.3324G>T (p.Pro1108=)
c.3084G>T (p.Pro1028=)
c.2703G>T (p.Pro901=)
c.1566G>T (p.Pro522=)
c.4635G>T (p.Pro1545=)
c.4536G>T (p.Pro1512=)
c.4506G>T (p.Pro1502=)
c.4476G>T (p.Pro1492=)
c.4347G>T (p.Pro1449=)
c.4326G>T (p.Pro1442=)
n.4621G>T
6g.157200900G>ACA366241185ARID1Bc.4516G>A (p.Gly1506Arg)
c.4585G>A (p.Gly1529Arg)
c.4804G>A (p.Gly1602Arg)
c.4555G>A (p.Gly1519Arg)
c.4267G>A (p.Gly1423Arg)
c.2833G>A (p.Gly945Arg)
c.1996G>A (p.Gly666Arg)
c.1627G>A (p.Gly543Arg)
n.3138G>A
n.595G>A
c.4675G>A (p.Gly1559Arg)
n.2672G>A
c.2043G>A
c.1957G>A
n.1341G>A
c.2017G>A (p.Gly673Arg)
c.2176G>A (p.Gly726Arg)
c.4306G>A (p.Gly1436Arg)
c.4426G>A (p.Gly1476Arg)
c.3505G>A (p.Gly1169Arg)
c.3325G>A (p.Gly1109Arg)
c.3085G>A (p.Gly1029Arg)
c.2704G>A (p.Gly902Arg)
c.1567G>A (p.Gly523Arg)
c.4636G>A (p.Gly1546Arg)
c.4537G>A (p.Gly1513Arg)
c.4507G>A (p.Gly1503Arg)
c.4477G>A (p.Gly1493Arg)
c.4348G>A (p.Gly1450Arg)
c.4327G>A (p.Gly1443Arg)
n.4622G>A
6g.157200900G>CCA366241186ARID1Bc.4516G>C (p.Gly1506Arg)
c.4585G>C (p.Gly1529Arg)
c.4804G>C (p.Gly1602Arg)
c.4555G>C (p.Gly1519Arg)
c.4267G>C (p.Gly1423Arg)
c.2833G>C (p.Gly945Arg)
c.1996G>C (p.Gly666Arg)
c.1627G>C (p.Gly543Arg)
n.3138G>C
n.595G>C
c.4675G>C (p.Gly1559Arg)
n.2672G>C
c.2043G>C
c.1957G>C
n.1341G>C
c.2017G>C (p.Gly673Arg)
c.2176G>C (p.Gly726Arg)
c.4306G>C (p.Gly1436Arg)
c.4426G>C (p.Gly1476Arg)
c.3505G>C (p.Gly1169Arg)
c.3325G>C (p.Gly1109Arg)
c.3085G>C (p.Gly1029Arg)
c.2704G>C (p.Gly902Arg)
c.1567G>C (p.Gly523Arg)
c.4636G>C (p.Gly1546Arg)
c.4537G>C (p.Gly1513Arg)
c.4507G>C (p.Gly1503Arg)
c.4477G>C (p.Gly1493Arg)
c.4348G>C (p.Gly1450Arg)
c.4327G>C (p.Gly1443Arg)
n.4622G>C
dbSNP
6g.157200900G>TCA366241187ARID1Bc.4516G>T (p.Gly1506Trp)
c.4585G>T (p.Gly1529Trp)
c.4804G>T (p.Gly1602Trp)
c.4555G>T (p.Gly1519Trp)
c.4267G>T (p.Gly1423Trp)
c.2833G>T (p.Gly945Trp)
c.1996G>T (p.Gly666Trp)
c.1627G>T (p.Gly543Trp)
n.3138G>T
n.595G>T
c.4675G>T (p.Gly1559Trp)
n.2672G>T
c.2043G>T
c.1957G>T
n.1341G>T
c.2017G>T (p.Gly673Trp)
c.2176G>T (p.Gly726Trp)
c.4306G>T (p.Gly1436Trp)
c.4426G>T (p.Gly1476Trp)
c.3505G>T (p.Gly1169Trp)
c.3325G>T (p.Gly1109Trp)
c.3085G>T (p.Gly1029Trp)
c.2704G>T (p.Gly902Trp)
c.1567G>T (p.Gly523Trp)
c.4636G>T (p.Gly1546Trp)
c.4537G>T (p.Gly1513Trp)
c.4507G>T (p.Gly1503Trp)
c.4477G>T (p.Gly1493Trp)
c.4348G>T (p.Gly1450Trp)
c.4327G>T (p.Gly1443Trp)
n.4622G>T
dbSNP
6g.157200901G>ACA366241188ARID1Bc.4517G>A (p.Gly1506Glu)
c.4586G>A (p.Gly1529Glu)
c.4805G>A (p.Gly1602Glu)
c.4556G>A (p.Gly1519Glu)
c.4268G>A (p.Gly1423Glu)
c.2834G>A (p.Gly945Glu)
c.1997G>A (p.Gly666Glu)
c.1628G>A (p.Gly543Glu)
n.3139G>A
n.596G>A
c.4676G>A (p.Gly1559Glu)
n.2673G>A
c.2044G>A
c.1958G>A
n.1342G>A
c.2018G>A (p.Gly673Glu)
c.2177G>A (p.Gly726Glu)
c.4307G>A (p.Gly1436Glu)
c.4427G>A (p.Gly1476Glu)
c.3506G>A (p.Gly1169Glu)
c.3326G>A (p.Gly1109Glu)
c.3086G>A (p.Gly1029Glu)
c.2705G>A (p.Gly902Glu)
c.1568G>A (p.Gly523Glu)
c.4637G>A (p.Gly1546Glu)
c.4538G>A (p.Gly1513Glu)
c.4508G>A (p.Gly1503Glu)
c.4478G>A (p.Gly1493Glu)
c.4349G>A (p.Gly1450Glu)
c.4328G>A (p.Gly1443Glu)
n.4623G>A
COSMIC COSMIC
6g.157200901G>CCA366241189ARID1Bc.4517G>C (p.Gly1506Ala)
c.4586G>C (p.Gly1529Ala)
c.4805G>C (p.Gly1602Ala)
c.4556G>C (p.Gly1519Ala)
c.4268G>C (p.Gly1423Ala)
c.2834G>C (p.Gly945Ala)
c.1997G>C (p.Gly666Ala)
c.1628G>C (p.Gly543Ala)
n.3139G>C
n.596G>C
c.4676G>C (p.Gly1559Ala)
n.2673G>C
c.2044G>C
c.1958G>C
n.1342G>C
c.2018G>C (p.Gly673Ala)
c.2177G>C (p.Gly726Ala)
c.4307G>C (p.Gly1436Ala)
c.4427G>C (p.Gly1476Ala)
c.3506G>C (p.Gly1169Ala)
c.3326G>C (p.Gly1109Ala)
c.3086G>C (p.Gly1029Ala)
c.2705G>C (p.Gly902Ala)
c.1568G>C (p.Gly523Ala)
c.4637G>C (p.Gly1546Ala)
c.4538G>C (p.Gly1513Ala)
c.4508G>C (p.Gly1503Ala)
c.4478G>C (p.Gly1493Ala)
c.4349G>C (p.Gly1450Ala)
c.4328G>C (p.Gly1443Ala)
n.4623G>C
6g.157200901G>TCA366241190ARID1Bc.4517G>T (p.Gly1506Val)
c.4586G>T (p.Gly1529Val)
c.4805G>T (p.Gly1602Val)
c.4556G>T (p.Gly1519Val)
c.4268G>T (p.Gly1423Val)
c.2834G>T (p.Gly945Val)
c.1997G>T (p.Gly666Val)
c.1628G>T (p.Gly543Val)
n.3139G>T
n.596G>T
c.4676G>T (p.Gly1559Val)
n.2673G>T
c.2044G>T
c.1958G>T
n.1342G>T
c.2018G>T (p.Gly673Val)
c.2177G>T (p.Gly726Val)
c.4307G>T (p.Gly1436Val)
c.4427G>T (p.Gly1476Val)
c.3506G>T (p.Gly1169Val)
c.3326G>T (p.Gly1109Val)
c.3086G>T (p.Gly1029Val)
c.2705G>T (p.Gly902Val)
c.1568G>T (p.Gly523Val)
c.4637G>T (p.Gly1546Val)
c.4538G>T (p.Gly1513Val)
c.4508G>T (p.Gly1503Val)
c.4478G>T (p.Gly1493Val)
c.4349G>T (p.Gly1450Val)
c.4328G>T (p.Gly1443Val)
n.4623G>T
6g.157200902G>ACA452977956ARID1Bc.4518G>A (p.Gly1506=)
c.4587G>A (p.Gly1529=)
c.4806G>A (p.Gly1602=)
c.4557G>A (p.Gly1519=)
c.4269G>A (p.Gly1423=)
c.2835G>A (p.Gly945=)
c.1998G>A (p.Gly666=)
c.1629G>A (p.Gly543=)
n.3140G>A
n.597G>A
c.4677G>A (p.Gly1559=)
n.2674G>A
c.2045G>A
c.1959G>A
n.1343G>A
c.2019G>A (p.Gly673=)
c.2178G>A (p.Gly726=)
c.4308G>A (p.Gly1436=)
c.4428G>A (p.Gly1476=)
c.3507G>A (p.Gly1169=)
c.3327G>A (p.Gly1109=)
c.3087G>A (p.Gly1029=)
c.2706G>A (p.Gly902=)
c.1569G>A (p.Gly523=)
c.4638G>A (p.Gly1546=)
c.4539G>A (p.Gly1513=)
c.4509G>A (p.Gly1503=)
c.4479G>A (p.Gly1493=)
c.4350G>A (p.Gly1450=)
c.4329G>A (p.Gly1443=)
n.4624G>A
dbSNP
6g.157200902G>CCA452977957ARID1Bc.4518G>C (p.Gly1506=)
c.4587G>C (p.Gly1529=)
c.4806G>C (p.Gly1602=)
c.4557G>C (p.Gly1519=)
c.4269G>C (p.Gly1423=)
c.2835G>C (p.Gly945=)
c.1998G>C (p.Gly666=)
c.1629G>C (p.Gly543=)
n.3140G>C
n.597G>C
c.4677G>C (p.Gly1559=)
n.2674G>C
c.2045G>C
c.1959G>C
n.1343G>C
c.2019G>C (p.Gly673=)
c.2178G>C (p.Gly726=)
c.4308G>C (p.Gly1436=)
c.4428G>C (p.Gly1476=)
c.3507G>C (p.Gly1169=)
c.3327G>C (p.Gly1109=)
c.3087G>C (p.Gly1029=)
c.2706G>C (p.Gly902=)
c.1569G>C (p.Gly523=)
c.4638G>C (p.Gly1546=)
c.4539G>C (p.Gly1513=)
c.4509G>C (p.Gly1503=)
c.4479G>C (p.Gly1493=)
c.4350G>C (p.Gly1450=)
c.4329G>C (p.Gly1443=)
n.4624G>C
6g.157200902G>TCA452977958ARID1Bc.4518G>T (p.Gly1506=)
c.4587G>T (p.Gly1529=)
c.4806G>T (p.Gly1602=)
c.4557G>T (p.Gly1519=)
c.4269G>T (p.Gly1423=)
c.2835G>T (p.Gly945=)
c.1998G>T (p.Gly666=)
c.1629G>T (p.Gly543=)
n.3140G>T
n.597G>T
c.4677G>T (p.Gly1559=)
n.2674G>T
c.2045G>T
c.1959G>T
n.1343G>T
c.2019G>T (p.Gly673=)
c.2178G>T (p.Gly726=)
c.4308G>T (p.Gly1436=)
c.4428G>T (p.Gly1476=)
c.3507G>T (p.Gly1169=)
c.3327G>T (p.Gly1109=)
c.3087G>T (p.Gly1029=)
c.2706G>T (p.Gly902=)
c.1569G>T (p.Gly523=)
c.4638G>T (p.Gly1546=)
c.4539G>T (p.Gly1513=)
c.4509G>T (p.Gly1503=)
c.4479G>T (p.Gly1493=)
c.4350G>T (p.Gly1450=)
c.4329G>T (p.Gly1443=)
n.4624G>T
6g.157200903C>ACA366241193ARID1Bc.4519C>A (p.Gln1507Lys)
c.4588C>A (p.Gln1530Lys)
c.4807C>A (p.Gln1603Lys)
c.4558C>A (p.Gln1520Lys)
c.4270C>A (p.Gln1424Lys)
c.2836C>A (p.Gln946Lys)
c.1999C>A (p.Gln667Lys)
c.1630C>A (p.Gln544Lys)
n.3141C>A
n.598C>A
c.4678C>A (p.Gln1560Lys)
n.2675C>A
c.2046C>A
c.1960C>A
n.1344C>A
c.2020C>A (p.Gln674Lys)
c.2179C>A (p.Gln727Lys)
c.4309C>A (p.Gln1437Lys)
c.4429C>A (p.Gln1477Lys)
c.3508C>A (p.Gln1170Lys)
c.3328C>A (p.Gln1110Lys)
c.3088C>A (p.Gln1030Lys)
c.2707C>A (p.Gln903Lys)
c.1570C>A (p.Gln524Lys)
c.4639C>A (p.Gln1547Lys)
c.4540C>A (p.Gln1514Lys)
c.4510C>A (p.Gln1504Lys)
c.4480C>A (p.Gln1494Lys)
c.4351C>A (p.Gln1451Lys)
c.4330C>A (p.Gln1444Lys)
n.4625C>A
6g.157200903C=CA1675543137ARID1Bc.4519C= (p.Gln1507=)
c.4588C= (p.Gln1530=)
c.4807C= (p.Gln1603=)
c.4558C= (p.Gln1520=)
c.4270C= (p.Gln1424=)
c.2836C= (p.Gln946=)
c.1999C= (p.Gln667=)
c.1630C= (p.Gln544=)
n.3141C=
n.598C=
c.4678C= (p.Gln1560=)
n.2675C=
c.2046C=
c.1960C=
n.1344C=
c.2020C= (p.Gln674=)
c.2179C= (p.Gln727=)
c.4309C= (p.Gln1437=)
c.4429C= (p.Gln1477=)
c.3508C= (p.Gln1170=)
c.3328C= (p.Gln1110=)
c.3088C= (p.Gln1030=)
c.2707C= (p.Gln903=)
c.1570C= (p.Gln524=)
c.4639C= (p.Gln1547=)
c.4540C= (p.Gln1514=)
c.4510C= (p.Gln1504=)
c.4480C= (p.Gln1494=)
c.4351C= (p.Gln1451=)
c.4330C= (p.Gln1444=)
n.4625C=
6g.157200903C>GCA366241191ARID1Bc.4519C>G (p.Gln1507Glu)
c.4588C>G (p.Gln1530Glu)
c.4807C>G (p.Gln1603Glu)
c.4558C>G (p.Gln1520Glu)
c.4270C>G (p.Gln1424Glu)
c.2836C>G (p.Gln946Glu)
c.1999C>G (p.Gln667Glu)
c.1630C>G (p.Gln544Glu)
n.3141C>G
n.598C>G
c.4678C>G (p.Gln1560Glu)
n.2675C>G
c.2046C>G
c.1960C>G
n.1344C>G
c.2020C>G (p.Gln674Glu)
c.2179C>G (p.Gln727Glu)
c.4309C>G (p.Gln1437Glu)
c.4429C>G (p.Gln1477Glu)
c.3508C>G (p.Gln1170Glu)
c.3328C>G (p.Gln1110Glu)
c.3088C>G (p.Gln1030Glu)
c.2707C>G (p.Gln903Glu)
c.1570C>G (p.Gln524Glu)
c.4639C>G (p.Gln1547Glu)
c.4540C>G (p.Gln1514Glu)
c.4510C>G (p.Gln1504Glu)
c.4480C>G (p.Gln1494Glu)
c.4351C>G (p.Gln1451Glu)
c.4330C>G (p.Gln1444Glu)
n.4625C>G
dbSNP gnomAD v2 gnomAD v4
6g.157200903C>TCA366241192ARID1Bc.4519C>T (p.Gln1507Ter)
c.4588C>T (p.Gln1530Ter)
c.4807C>T (p.Gln1603Ter)
c.4558C>T (p.Gln1520Ter)
c.4270C>T (p.Gln1424Ter)
c.2836C>T (p.Gln946Ter)
c.1999C>T (p.Gln667Ter)
c.1630C>T (p.Gln544Ter)
n.3141C>T
n.598C>T
c.4678C>T (p.Gln1560Ter)
n.2675C>T
c.2046C>T
c.1960C>T
n.1344C>T
c.2020C>T (p.Gln674Ter)
c.2179C>T (p.Gln727Ter)
c.4309C>T (p.Gln1437Ter)
c.4429C>T (p.Gln1477Ter)
c.3508C>T (p.Gln1170Ter)
c.3328C>T (p.Gln1110Ter)
c.3088C>T (p.Gln1030Ter)
c.2707C>T (p.Gln903Ter)
c.1570C>T (p.Gln524Ter)
c.4639C>T (p.Gln1547Ter)
c.4540C>T (p.Gln1514Ter)
c.4510C>T (p.Gln1504Ter)
c.4480C>T (p.Gln1494Ter)
c.4351C>T (p.Gln1451Ter)
c.4330C>T (p.Gln1444Ter)
n.4625C>T
dbSNP
6g.157200904A>CCA366241194ARID1Bc.4520A>C (p.Gln1507Pro)
c.4589A>C (p.Gln1530Pro)
c.4808A>C (p.Gln1603Pro)
c.4559A>C (p.Gln1520Pro)
c.4271A>C (p.Gln1424Pro)
c.2837A>C (p.Gln946Pro)
c.2000A>C (p.Gln667Pro)
c.1631A>C (p.Gln544Pro)
n.3142A>C
n.599A>C
c.4679A>C (p.Gln1560Pro)
n.2676A>C
c.2047A>C
c.1961A>C
n.1345A>C
c.2021A>C (p.Gln674Pro)
c.2180A>C (p.Gln727Pro)
c.4310A>C (p.Gln1437Pro)
c.4430A>C (p.Gln1477Pro)
c.3509A>C (p.Gln1170Pro)
c.3329A>C (p.Gln1110Pro)
c.3089A>C (p.Gln1030Pro)
c.2708A>C (p.Gln903Pro)
c.1571A>C (p.Gln524Pro)
c.4640A>C (p.Gln1547Pro)
c.4541A>C (p.Gln1514Pro)
c.4511A>C (p.Gln1504Pro)
c.4481A>C (p.Gln1494Pro)
c.4352A>C (p.Gln1451Pro)
c.4331A>C (p.Gln1444Pro)
n.4626A>C
6g.157200904A>GCA366241195ARID1Bc.4520A>G (p.Gln1507Arg)
c.4589A>G (p.Gln1530Arg)
c.4808A>G (p.Gln1603Arg)
c.4559A>G (p.Gln1520Arg)
c.4271A>G (p.Gln1424Arg)
c.2837A>G (p.Gln946Arg)
c.2000A>G (p.Gln667Arg)
c.1631A>G (p.Gln544Arg)
n.3142A>G
n.599A>G
c.4679A>G (p.Gln1560Arg)
n.2676A>G
c.2047A>G
c.1961A>G
n.1345A>G
c.2021A>G (p.Gln674Arg)
c.2180A>G (p.Gln727Arg)
c.4310A>G (p.Gln1437Arg)
c.4430A>G (p.Gln1477Arg)
c.3509A>G (p.Gln1170Arg)
c.3329A>G (p.Gln1110Arg)
c.3089A>G (p.Gln1030Arg)
c.2708A>G (p.Gln903Arg)
c.1571A>G (p.Gln524Arg)
c.4640A>G (p.Gln1547Arg)
c.4541A>G (p.Gln1514Arg)
c.4511A>G (p.Gln1504Arg)
c.4481A>G (p.Gln1494Arg)
c.4352A>G (p.Gln1451Arg)
c.4331A>G (p.Gln1444Arg)
n.4626A>G
gnomAD v4
6g.157200904A>TCA366241196ARID1Bc.4520A>T (p.Gln1507Leu)
c.4589A>T (p.Gln1530Leu)
c.4808A>T (p.Gln1603Leu)
c.4559A>T (p.Gln1520Leu)
c.4271A>T (p.Gln1424Leu)
c.2837A>T (p.Gln946Leu)
c.2000A>T (p.Gln667Leu)
c.1631A>T (p.Gln544Leu)
n.3142A>T
n.599A>T
c.4679A>T (p.Gln1560Leu)
n.2676A>T
c.2047A>T
c.1961A>T
n.1345A>T
c.2021A>T (p.Gln674Leu)
c.2180A>T (p.Gln727Leu)
c.4310A>T (p.Gln1437Leu)
c.4430A>T (p.Gln1477Leu)
c.3509A>T (p.Gln1170Leu)
c.3329A>T (p.Gln1110Leu)
c.3089A>T (p.Gln1030Leu)
c.2708A>T (p.Gln903Leu)
c.1571A>T (p.Gln524Leu)
c.4640A>T (p.Gln1547Leu)
c.4541A>T (p.Gln1514Leu)
c.4511A>T (p.Gln1504Leu)
c.4481A>T (p.Gln1494Leu)
c.4352A>T (p.Gln1451Leu)
c.4331A>T (p.Gln1444Leu)
n.4626A>T
6g.157200905G>ACA452977963ARID1Bc.4521G>A (p.Gln1507=)
c.4590G>A (p.Gln1530=)
c.4809G>A (p.Gln1603=)
c.4560G>A (p.Gln1520=)
c.4272G>A (p.Gln1424=)
c.2838G>A (p.Gln946=)
c.2001G>A (p.Gln667=)
c.1632G>A (p.Gln544=)
n.3143G>A
n.600G>A
c.4680G>A (p.Gln1560=)
n.2677G>A
c.2048G>A
c.1962G>A
n.1346G>A
c.2022G>A (p.Gln674=)
c.2181G>A (p.Gln727=)
c.4311G>A (p.Gln1437=)
c.4431G>A (p.Gln1477=)
c.3510G>A (p.Gln1170=)
c.3330G>A (p.Gln1110=)
c.3090G>A (p.Gln1030=)
c.2709G>A (p.Gln903=)
c.1572G>A (p.Gln524=)
c.4641G>A (p.Gln1547=)
c.4542G>A (p.Gln1514=)
c.4512G>A (p.Gln1504=)
c.4482G>A (p.Gln1494=)
c.4353G>A (p.Gln1451=)
c.4332G>A (p.Gln1444=)
n.4627G>A
dbSNP
6g.157200905G>CCA366241197ARID1Bc.4521G>C (p.Gln1507His)
c.4590G>C (p.Gln1530His)
c.4809G>C (p.Gln1603His)
c.4560G>C (p.Gln1520His)
c.4272G>C (p.Gln1424His)
c.2838G>C (p.Gln946His)
c.2001G>C (p.Gln667His)
c.1632G>C (p.Gln544His)
n.3143G>C
n.600G>C
c.4680G>C (p.Gln1560His)
n.2677G>C
c.2048G>C
c.1962G>C
n.1346G>C
c.2022G>C (p.Gln674His)
c.2181G>C (p.Gln727His)
c.4311G>C (p.Gln1437His)
c.4431G>C (p.Gln1477His)
c.3510G>C (p.Gln1170His)
c.3330G>C (p.Gln1110His)
c.3090G>C (p.Gln1030His)
c.2709G>C (p.Gln903His)
c.1572G>C (p.Gln524His)
c.4641G>C (p.Gln1547His)
c.4542G>C (p.Gln1514His)
c.4512G>C (p.Gln1504His)
c.4482G>C (p.Gln1494His)
c.4353G>C (p.Gln1451His)
c.4332G>C (p.Gln1444His)
n.4627G>C
6g.157200905G>TCA366241198ARID1Bc.4521G>T (p.Gln1507His)
c.4590G>T (p.Gln1530His)
c.4809G>T (p.Gln1603His)
c.4560G>T (p.Gln1520His)
c.4272G>T (p.Gln1424His)
c.2838G>T (p.Gln946His)
c.2001G>T (p.Gln667His)
c.1632G>T (p.Gln544His)
n.3143G>T
n.600G>T
c.4680G>T (p.Gln1560His)
n.2677G>T
c.2048G>T
c.1962G>T
n.1346G>T
c.2022G>T (p.Gln674His)
c.2181G>T (p.Gln727His)
c.4311G>T (p.Gln1437His)
c.4431G>T (p.Gln1477His)
c.3510G>T (p.Gln1170His)
c.3330G>T (p.Gln1110His)
c.3090G>T (p.Gln1030His)
c.2709G>T (p.Gln903His)
c.1572G>T (p.Gln524His)
c.4641G>T (p.Gln1547His)
c.4542G>T (p.Gln1514His)
c.4512G>T (p.Gln1504His)
c.4482G>T (p.Gln1494His)
c.4353G>T (p.Gln1451His)
c.4332G>T (p.Gln1444His)
n.4627G>T
6g.157200906A=CA1675543138ARID1Bc.4522A= (p.Ile1508=)
c.4591A= (p.Ile1531=)
c.4810A= (p.Ile1604=)
c.4561A= (p.Ile1521=)
c.4273A= (p.Ile1425=)
c.2839A= (p.Ile947=)
c.2002A= (p.Ile668=)
c.1633A= (p.Ile545=)
n.3144A=
n.601A=
c.4681A= (p.Ile1561=)
n.2678A=
c.2049A=
c.1963A=
n.1347A=
c.2023A= (p.Ile675=)
c.2182A= (p.Ile728=)
c.4312A= (p.Ile1438=)
c.4432A= (p.Ile1478=)
c.3511A= (p.Ile1171=)
c.3331A= (p.Ile1111=)
c.3091A= (p.Ile1031=)
c.2710A= (p.Ile904=)
c.1573A= (p.Ile525=)
c.4642A= (p.Ile1548=)
c.4543A= (p.Ile1515=)
c.4513A= (p.Ile1505=)
c.4483A= (p.Ile1495=)
c.4354A= (p.Ile1452=)
c.4333A= (p.Ile1445=)
n.4628A=
6g.157200906A>CCA366241199ARID1Bc.4522A>C (p.Ile1508Leu)
c.4591A>C (p.Ile1531Leu)
c.4810A>C (p.Ile1604Leu)
c.4561A>C (p.Ile1521Leu)
c.4273A>C (p.Ile1425Leu)
c.2839A>C (p.Ile947Leu)
c.2002A>C (p.Ile668Leu)
c.1633A>C (p.Ile545Leu)
n.3144A>C
n.601A>C
c.4681A>C (p.Ile1561Leu)
n.2678A>C
c.2049A>C
c.1963A>C
n.1347A>C
c.2023A>C (p.Ile675Leu)
c.2182A>C (p.Ile728Leu)
c.4312A>C (p.Ile1438Leu)
c.4432A>C (p.Ile1478Leu)
c.3511A>C (p.Ile1171Leu)
c.3331A>C (p.Ile1111Leu)
c.3091A>C (p.Ile1031Leu)
c.2710A>C (p.Ile904Leu)
c.1573A>C (p.Ile525Leu)
c.4642A>C (p.Ile1548Leu)
c.4543A>C (p.Ile1515Leu)
c.4513A>C (p.Ile1505Leu)
c.4483A>C (p.Ile1495Leu)
c.4354A>C (p.Ile1452Leu)
c.4333A>C (p.Ile1445Leu)
n.4628A>C
6g.157200906A>GCA4067682ARID1Bc.4522A>G (p.Ile1508Val)
c.4591A>G (p.Ile1531Val)
c.4810A>G (p.Ile1604Val)
c.4561A>G (p.Ile1521Val)
c.4273A>G (p.Ile1425Val)
c.2839A>G (p.Ile947Val)
c.2002A>G (p.Ile668Val)
c.1633A>G (p.Ile545Val)
n.3144A>G
n.601A>G
c.4681A>G (p.Ile1561Val)
n.2678A>G
c.2049A>G
c.1963A>G
n.1347A>G
c.2023A>G (p.Ile675Val)
c.2182A>G (p.Ile728Val)
c.4312A>G (p.Ile1438Val)
c.4432A>G (p.Ile1478Val)
c.3511A>G (p.Ile1171Val)
c.3331A>G (p.Ile1111Val)
c.3091A>G (p.Ile1031Val)
c.2710A>G (p.Ile904Val)
c.1573A>G (p.Ile525Val)
c.4642A>G (p.Ile1548Val)
c.4543A>G (p.Ile1515Val)
c.4513A>G (p.Ile1505Val)
c.4483A>G (p.Ile1495Val)
c.4354A>G (p.Ile1452Val)
c.4333A>G (p.Ile1445Val)
n.4628A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.157200906A>TCA366241200ARID1Bc.4522A>T (p.Ile1508Phe)
c.4591A>T (p.Ile1531Phe)
c.4810A>T (p.Ile1604Phe)
c.4561A>T (p.Ile1521Phe)
c.4273A>T (p.Ile1425Phe)
c.2839A>T (p.Ile947Phe)
c.2002A>T (p.Ile668Phe)
c.1633A>T (p.Ile545Phe)
n.3144A>T
n.601A>T
c.4681A>T (p.Ile1561Phe)
n.2678A>T
c.2049A>T
c.1963A>T
n.1347A>T
c.2023A>T (p.Ile675Phe)
c.2182A>T (p.Ile728Phe)
c.4312A>T (p.Ile1438Phe)
c.4432A>T (p.Ile1478Phe)
c.3511A>T (p.Ile1171Phe)
c.3331A>T (p.Ile1111Phe)
c.3091A>T (p.Ile1031Phe)
c.2710A>T (p.Ile904Phe)
c.1573A>T (p.Ile525Phe)
c.4642A>T (p.Ile1548Phe)
c.4543A>T (p.Ile1515Phe)
c.4513A>T (p.Ile1505Phe)
c.4483A>T (p.Ile1495Phe)
c.4354A>T (p.Ile1452Phe)
c.4333A>T (p.Ile1445Phe)
n.4628A>T
6g.157200907T>ACA366241201ARID1Bc.4523T>A (p.Ile1508Asn)
c.4592T>A (p.Ile1531Asn)
c.4811T>A (p.Ile1604Asn)
c.4562T>A (p.Ile1521Asn)
c.4274T>A (p.Ile1425Asn)
c.2840T>A (p.Ile947Asn)
c.2003T>A (p.Ile668Asn)
c.1634T>A (p.Ile545Asn)
n.3145T>A
n.602T>A
c.4682T>A (p.Ile1561Asn)
n.2679T>A
c.2050T>A
c.1964T>A
n.1348T>A
c.2024T>A (p.Ile675Asn)
c.2183T>A (p.Ile728Asn)
c.4313T>A (p.Ile1438Asn)
c.4433T>A (p.Ile1478Asn)
c.3512T>A (p.Ile1171Asn)
c.3332T>A (p.Ile1111Asn)
c.3092T>A (p.Ile1031Asn)
c.2711T>A (p.Ile904Asn)
c.1574T>A (p.Ile525Asn)
c.4643T>A (p.Ile1548Asn)
c.4544T>A (p.Ile1515Asn)
c.4514T>A (p.Ile1505Asn)
c.4484T>A (p.Ile1495Asn)
c.4355T>A (p.Ile1452Asn)
c.4334T>A (p.Ile1445Asn)
n.4629T>A
6g.157200907T>CCA366241202ARID1Bc.4523T>C (p.Ile1508Thr)
c.4592T>C (p.Ile1531Thr)
c.4811T>C (p.Ile1604Thr)
c.4562T>C (p.Ile1521Thr)
c.4274T>C (p.Ile1425Thr)
c.2840T>C (p.Ile947Thr)
c.2003T>C (p.Ile668Thr)
c.1634T>C (p.Ile545Thr)
n.3145T>C
n.602T>C
c.4682T>C (p.Ile1561Thr)
n.2679T>C
c.2050T>C
c.1964T>C
n.1348T>C
c.2024T>C (p.Ile675Thr)
c.2183T>C (p.Ile728Thr)
c.4313T>C (p.Ile1438Thr)
c.4433T>C (p.Ile1478Thr)
c.3512T>C (p.Ile1171Thr)
c.3332T>C (p.Ile1111Thr)
c.3092T>C (p.Ile1031Thr)
c.2711T>C (p.Ile904Thr)
c.1574T>C (p.Ile525Thr)
c.4643T>C (p.Ile1548Thr)
c.4544T>C (p.Ile1515Thr)
c.4514T>C (p.Ile1505Thr)
c.4484T>C (p.Ile1495Thr)
c.4355T>C (p.Ile1452Thr)
c.4334T>C (p.Ile1445Thr)
n.4629T>C
gnomAD v4
6g.157200907T>GCA366241203ARID1Bc.4523T>G (p.Ile1508Ser)
c.4592T>G (p.Ile1531Ser)
c.4811T>G (p.Ile1604Ser)
c.4562T>G (p.Ile1521Ser)
c.4274T>G (p.Ile1425Ser)
c.2840T>G (p.Ile947Ser)
c.2003T>G (p.Ile668Ser)
c.1634T>G (p.Ile545Ser)
n.3145T>G
n.602T>G
c.4682T>G (p.Ile1561Ser)
n.2679T>G
c.2050T>G
c.1964T>G
n.1348T>G
c.2024T>G (p.Ile675Ser)
c.2183T>G (p.Ile728Ser)
c.4313T>G (p.Ile1438Ser)
c.4433T>G (p.Ile1478Ser)
c.3512T>G (p.Ile1171Ser)
c.3332T>G (p.Ile1111Ser)
c.3092T>G (p.Ile1031Ser)
c.2711T>G (p.Ile904Ser)
c.1574T>G (p.Ile525Ser)
c.4643T>G (p.Ile1548Ser)
c.4544T>G (p.Ile1515Ser)
c.4514T>G (p.Ile1505Ser)
c.4484T>G (p.Ile1495Ser)
c.4355T>G (p.Ile1452Ser)
c.4334T>G (p.Ile1445Ser)
n.4629T>G
6g.157200908C>ACA452977978ARID1Bc.4524C>A (p.Ile1508=)
c.4593C>A (p.Ile1531=)
c.4812C>A (p.Ile1604=)
c.4563C>A (p.Ile1521=)
c.4275C>A (p.Ile1425=)
c.2841C>A (p.Ile947=)
c.2004C>A (p.Ile668=)
c.1635C>A (p.Ile545=)
n.3146C>A
n.603C>A
c.4683C>A (p.Ile1561=)
n.2680C>A
c.2051C>A
c.1965C>A
n.1349C>A
c.2025C>A (p.Ile675=)
c.2184C>A (p.Ile728=)
c.4314C>A (p.Ile1438=)
c.4434C>A (p.Ile1478=)
c.3513C>A (p.Ile1171=)
c.3333C>A (p.Ile1111=)
c.3093C>A (p.Ile1031=)
c.2712C>A (p.Ile904=)
c.1575C>A (p.Ile525=)
c.4644C>A (p.Ile1548=)
c.4545C>A (p.Ile1515=)
c.4515C>A (p.Ile1505=)
c.4485C>A (p.Ile1495=)
c.4356C>A (p.Ile1452=)
c.4335C>A (p.Ile1445=)
n.4630C>A
6g.157200908C>GCA366241204ARID1Bc.4524C>G (p.Ile1508Met)
c.4593C>G (p.Ile1531Met)
c.4812C>G (p.Ile1604Met)
c.4563C>G (p.Ile1521Met)
c.4275C>G (p.Ile1425Met)
c.2841C>G (p.Ile947Met)
c.2004C>G (p.Ile668Met)
c.1635C>G (p.Ile545Met)
n.3146C>G
n.603C>G
c.4683C>G (p.Ile1561Met)
n.2680C>G
c.2051C>G
c.1965C>G
n.1349C>G
c.2025C>G (p.Ile675Met)
c.2184C>G (p.Ile728Met)
c.4314C>G (p.Ile1438Met)
c.4434C>G (p.Ile1478Met)
c.3513C>G (p.Ile1171Met)
c.3333C>G (p.Ile1111Met)
c.3093C>G (p.Ile1031Met)
c.2712C>G (p.Ile904Met)
c.1575C>G (p.Ile525Met)
c.4644C>G (p.Ile1548Met)
c.4545C>G (p.Ile1515Met)
c.4515C>G (p.Ile1505Met)
c.4485C>G (p.Ile1495Met)
c.4356C>G (p.Ile1452Met)
c.4335C>G (p.Ile1445Met)
n.4630C>G
6g.157200908C>TCA452977976ARID1Bc.4524C>T (p.Ile1508=)
c.4593C>T (p.Ile1531=)
c.4812C>T (p.Ile1604=)
c.4563C>T (p.Ile1521=)
c.4275C>T (p.Ile1425=)
c.2841C>T (p.Ile947=)
c.2004C>T (p.Ile668=)
c.1635C>T (p.Ile545=)
n.3146C>T
n.603C>T
c.4683C>T (p.Ile1561=)
n.2680C>T
c.2051C>T
c.1965C>T
n.1349C>T
c.2025C>T (p.Ile675=)
c.2184C>T (p.Ile728=)
c.4314C>T (p.Ile1438=)
c.4434C>T (p.Ile1478=)
c.3513C>T (p.Ile1171=)
c.3333C>T (p.Ile1111=)
c.3093C>T (p.Ile1031=)
c.2712C>T (p.Ile904=)
c.1575C>T (p.Ile525=)
c.4644C>T (p.Ile1548=)
c.4545C>T (p.Ile1515=)
c.4515C>T (p.Ile1505=)
c.4485C>T (p.Ile1495=)
c.4356C>T (p.Ile1452=)
c.4335C>T (p.Ile1445=)
n.4630C>T
6g.157200909C>ACA366241205ARID1Bc.4525C>A (p.Gln1509Lys)
c.4594C>A (p.Gln1532Lys)
c.4813C>A (p.Gln1605Lys)
c.4564C>A (p.Gln1522Lys)
c.4276C>A (p.Gln1426Lys)
c.2842C>A (p.Gln948Lys)
c.2005C>A (p.Gln669Lys)
c.1636C>A (p.Gln546Lys)
n.3147C>A
n.604C>A
c.4684C>A (p.Gln1562Lys)
n.2681C>A
c.2052C>A
c.1966C>A
n.1350C>A
c.2026C>A (p.Gln676Lys)
c.2185C>A (p.Gln729Lys)
c.4315C>A (p.Gln1439Lys)
c.4435C>A (p.Gln1479Lys)
c.3514C>A (p.Gln1172Lys)
c.3334C>A (p.Gln1112Lys)
c.3094C>A (p.Gln1032Lys)
c.2713C>A (p.Gln905Lys)
c.1576C>A (p.Gln526Lys)
c.4645C>A (p.Gln1549Lys)
c.4546C>A (p.Gln1516Lys)
c.4516C>A (p.Gln1506Lys)
c.4486C>A (p.Gln1496Lys)
c.4357C>A (p.Gln1453Lys)
c.4336C>A (p.Gln1446Lys)
n.4631C>A
dbSNP
6g.157200909C=CA1675543139ARID1Bc.4525C= (p.Gln1509=)
c.4594C= (p.Gln1532=)
c.4813C= (p.Gln1605=)
c.4564C= (p.Gln1522=)
c.4276C= (p.Gln1426=)
c.2842C= (p.Gln948=)
c.2005C= (p.Gln669=)
c.1636C= (p.Gln546=)
n.3147C=
n.604C=
c.4684C= (p.Gln1562=)
n.2681C=
c.2052C=
c.1966C=
n.1350C=
c.2026C= (p.Gln676=)
c.2185C= (p.Gln729=)
c.4315C= (p.Gln1439=)
c.4435C= (p.Gln1479=)
c.3514C= (p.Gln1172=)
c.3334C= (p.Gln1112=)
c.3094C= (p.Gln1032=)
c.2713C= (p.Gln905=)
c.1576C= (p.Gln526=)
c.4645C= (p.Gln1549=)
c.4546C= (p.Gln1516=)
c.4516C= (p.Gln1506=)
c.4486C= (p.Gln1496=)
c.4357C= (p.Gln1453=)
c.4336C= (p.Gln1446=)
n.4631C=
6g.157200909C>GCA366241206ARID1Bc.4525C>G (p.Gln1509Glu)
c.4594C>G (p.Gln1532Glu)
c.4813C>G (p.Gln1605Glu)
c.4564C>G (p.Gln1522Glu)
c.4276C>G (p.Gln1426Glu)
c.2842C>G (p.Gln948Glu)
c.2005C>G (p.Gln669Glu)
c.1636C>G (p.Gln546Glu)
n.3147C>G
n.604C>G
c.4684C>G (p.Gln1562Glu)
n.2681C>G
c.2052C>G
c.1966C>G
n.1350C>G
c.2026C>G (p.Gln676Glu)
c.2185C>G (p.Gln729Glu)
c.4315C>G (p.Gln1439Glu)
c.4435C>G (p.Gln1479Glu)
c.3514C>G (p.Gln1172Glu)
c.3334C>G (p.Gln1112Glu)
c.3094C>G (p.Gln1032Glu)
c.2713C>G (p.Gln905Glu)
c.1576C>G (p.Gln526Glu)
c.4645C>G (p.Gln1549Glu)
c.4546C>G (p.Gln1516Glu)
c.4516C>G (p.Gln1506Glu)
c.4486C>G (p.Gln1496Glu)
c.4357C>G (p.Gln1453Glu)
c.4336C>G (p.Gln1446Glu)
n.4631C>G
6g.157200909C>TCA366241207ARID1Bc.4525C>T (p.Gln1509Ter)
c.4594C>T (p.Gln1532Ter)
c.4813C>T (p.Gln1605Ter)
c.4564C>T (p.Gln1522Ter)
c.4276C>T (p.Gln1426Ter)
c.2842C>T (p.Gln948Ter)
c.2005C>T (p.Gln669Ter)
c.1636C>T (p.Gln546Ter)
n.3147C>T
n.604C>T
c.4684C>T (p.Gln1562Ter)
n.2681C>T
c.2052C>T
c.1966C>T
n.1350C>T
c.2026C>T (p.Gln676Ter)
c.2185C>T (p.Gln729Ter)
c.4315C>T (p.Gln1439Ter)
c.4435C>T (p.Gln1479Ter)
c.3514C>T (p.Gln1172Ter)
c.3334C>T (p.Gln1112Ter)
c.3094C>T (p.Gln1032Ter)
c.2713C>T (p.Gln905Ter)
c.1576C>T (p.Gln526Ter)
c.4645C>T (p.Gln1549Ter)
c.4546C>T (p.Gln1516Ter)
c.4516C>T (p.Gln1506Ter)
c.4486C>T (p.Gln1496Ter)
c.4357C>T (p.Gln1453Ter)
c.4336C>T (p.Gln1446Ter)
n.4631C>T
dbSNP
6g.157200910A>CCA366241208ARID1Bc.4526A>C (p.Gln1509Pro)
c.4595A>C (p.Gln1532Pro)
c.4814A>C (p.Gln1605Pro)
c.4565A>C (p.Gln1522Pro)
c.4277A>C (p.Gln1426Pro)
c.2843A>C (p.Gln948Pro)
c.2006A>C (p.Gln669Pro)
c.1637A>C (p.Gln546Pro)
n.3148A>C
n.605A>C
c.4685A>C (p.Gln1562Pro)
n.2682A>C
c.2053A>C
c.1967A>C
n.1351A>C
c.2027A>C (p.Gln676Pro)
c.2186A>C (p.Gln729Pro)
c.4316A>C (p.Gln1439Pro)
c.4436A>C (p.Gln1479Pro)
c.3515A>C (p.Gln1172Pro)
c.3335A>C (p.Gln1112Pro)
c.3095A>C (p.Gln1032Pro)
c.2714A>C (p.Gln905Pro)
c.1577A>C (p.Gln526Pro)
c.4646A>C (p.Gln1549Pro)
c.4547A>C (p.Gln1516Pro)
c.4517A>C (p.Gln1506Pro)
c.4487A>C (p.Gln1496Pro)
c.4358A>C (p.Gln1453Pro)
c.4337A>C (p.Gln1446Pro)
n.4632A>C
6g.157200910A>GCA366241209ARID1Bc.4526A>G (p.Gln1509Arg)
c.4595A>G (p.Gln1532Arg)
c.4814A>G (p.Gln1605Arg)
c.4565A>G (p.Gln1522Arg)
c.4277A>G (p.Gln1426Arg)
c.2843A>G (p.Gln948Arg)
c.2006A>G (p.Gln669Arg)
c.1637A>G (p.Gln546Arg)
n.3148A>G
n.605A>G
c.4685A>G (p.Gln1562Arg)
n.2682A>G
c.2053A>G
c.1967A>G
n.1351A>G
c.2027A>G (p.Gln676Arg)
c.2186A>G (p.Gln729Arg)
c.4316A>G (p.Gln1439Arg)
c.4436A>G (p.Gln1479Arg)
c.3515A>G (p.Gln1172Arg)
c.3335A>G (p.Gln1112Arg)
c.3095A>G (p.Gln1032Arg)
c.2714A>G (p.Gln905Arg)
c.1577A>G (p.Gln526Arg)
c.4646A>G (p.Gln1549Arg)
c.4547A>G (p.Gln1516Arg)
c.4517A>G (p.Gln1506Arg)
c.4487A>G (p.Gln1496Arg)
c.4358A>G (p.Gln1453Arg)
c.4337A>G (p.Gln1446Arg)
n.4632A>G
dbSNP gnomAD v4
6g.157200910A>TCA366241210ARID1Bc.4526A>T (p.Gln1509Leu)
c.4595A>T (p.Gln1532Leu)
c.4814A>T (p.Gln1605Leu)
c.4565A>T (p.Gln1522Leu)
c.4277A>T (p.Gln1426Leu)
c.2843A>T (p.Gln948Leu)
c.2006A>T (p.Gln669Leu)
c.1637A>T (p.Gln546Leu)
n.3148A>T
n.605A>T
c.4685A>T (p.Gln1562Leu)
n.2682A>T
c.2053A>T
c.1967A>T
n.1351A>T
c.2027A>T (p.Gln676Leu)
c.2186A>T (p.Gln729Leu)
c.4316A>T (p.Gln1439Leu)
c.4436A>T (p.Gln1479Leu)
c.3515A>T (p.Gln1172Leu)
c.3335A>T (p.Gln1112Leu)
c.3095A>T (p.Gln1032Leu)
c.2714A>T (p.Gln905Leu)
c.1577A>T (p.Gln526Leu)
c.4646A>T (p.Gln1549Leu)
c.4547A>T (p.Gln1516Leu)
c.4517A>T (p.Gln1506Leu)
c.4487A>T (p.Gln1496Leu)
c.4358A>T (p.Gln1453Leu)
c.4337A>T (p.Gln1446Leu)
n.4632A>T
6g.157200911G>ACA4067683ARID1Bc.4527G>A (p.Gln1509=)
c.4596G>A (p.Gln1532=)
c.4815G>A (p.Gln1605=)
c.4566G>A (p.Gln1522=)
c.4278G>A (p.Gln1426=)
c.2844G>A (p.Gln948=)
c.2007G>A (p.Gln669=)
c.1638G>A (p.Gln546=)
n.3149G>A
n.606G>A
c.4686G>A (p.Gln1562=)
n.2683G>A
c.2054G>A
c.1968G>A
n.1352G>A
c.2028G>A (p.Gln676=)
c.2187G>A (p.Gln729=)
c.4317G>A (p.Gln1439=)
c.4437G>A (p.Gln1479=)
c.3516G>A (p.Gln1172=)
c.3336G>A (p.Gln1112=)
c.3096G>A (p.Gln1032=)
c.2715G>A (p.Gln905=)
c.1578G>A (p.Gln526=)
c.4647G>A (p.Gln1549=)
c.4548G>A (p.Gln1516=)
c.4518G>A (p.Gln1506=)
c.4488G>A (p.Gln1496=)
c.4359G>A (p.Gln1453=)
c.4338G>A (p.Gln1446=)
n.4633G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
6g.157200911G>CCA366241211ARID1Bc.4527G>C (p.Gln1509His)
c.4596G>C (p.Gln1532His)
c.4815G>C (p.Gln1605His)
c.4566G>C (p.Gln1522His)
c.4278G>C (p.Gln1426His)
c.2844G>C (p.Gln948His)
c.2007G>C (p.Gln669His)
c.1638G>C (p.Gln546His)
n.3149G>C
n.606G>C
c.4686G>C (p.Gln1562His)
n.2683G>C
c.2054G>C
c.1968G>C
n.1352G>C
c.2028G>C (p.Gln676His)
c.2187G>C (p.Gln729His)
c.4317G>C (p.Gln1439His)
c.4437G>C (p.Gln1479His)
c.3516G>C (p.Gln1172His)
c.3336G>C (p.Gln1112His)
c.3096G>C (p.Gln1032His)
c.2715G>C (p.Gln905His)
c.1578G>C (p.Gln526His)
c.4647G>C (p.Gln1549His)
c.4548G>C (p.Gln1516His)
c.4518G>C (p.Gln1506His)
c.4488G>C (p.Gln1496His)
c.4359G>C (p.Gln1453His)
c.4338G>C (p.Gln1446His)
n.4633G>C
dbSNP gnomAD v4
6g.157200911G=CA1675543140ARID1Bc.4527G= (p.Gln1509=)
c.4596G= (p.Gln1532=)
c.4815G= (p.Gln1605=)
c.4566G= (p.Gln1522=)
c.4278G= (p.Gln1426=)
c.2844G= (p.Gln948=)
c.2007G= (p.Gln669=)
c.1638G= (p.Gln546=)
n.3149G=
n.606G=
c.4686G= (p.Gln1562=)
n.2683G=
c.2054G=
c.1968G=
n.1352G=
c.2028G= (p.Gln676=)
c.2187G= (p.Gln729=)
c.4317G= (p.Gln1439=)
c.4437G= (p.Gln1479=)
c.3516G= (p.Gln1172=)
c.3336G= (p.Gln1112=)
c.3096G= (p.Gln1032=)
c.2715G= (p.Gln905=)
c.1578G= (p.Gln526=)
c.4647G= (p.Gln1549=)
c.4548G= (p.Gln1516=)
c.4518G= (p.Gln1506=)
c.4488G= (p.Gln1496=)
c.4359G= (p.Gln1453=)
c.4338G= (p.Gln1446=)
n.4633G=
6g.157200911G>TCA366241212ARID1Bc.4527G>T (p.Gln1509His)
c.4596G>T (p.Gln1532His)
c.4815G>T (p.Gln1605His)
c.4566G>T (p.Gln1522His)
c.4278G>T (p.Gln1426His)
c.2844G>T (p.Gln948His)
c.2007G>T (p.Gln669His)
c.1638G>T (p.Gln546His)
n.3149G>T
n.606G>T
c.4686G>T (p.Gln1562His)
n.2683G>T
c.2054G>T
c.1968G>T
n.1352G>T
c.2028G>T (p.Gln676His)
c.2187G>T (p.Gln729His)
c.4317G>T (p.Gln1439His)
c.4437G>T (p.Gln1479His)
c.3516G>T (p.Gln1172His)
c.3336G>T (p.Gln1112His)
c.3096G>T (p.Gln1032His)
c.2715G>T (p.Gln905His)
c.1578G>T (p.Gln526His)
c.4647G>T (p.Gln1549His)
c.4548G>T (p.Gln1516His)
c.4518G>T (p.Gln1506His)
c.4488G>T (p.Gln1496His)
c.4359G>T (p.Gln1453His)
c.4338G>T (p.Gln1446His)
n.4633G>T
gnomAD v4
6g.157200912A>CCA366241213ARID1Bc.4528A>C (p.Thr1510Pro)
c.4597A>C (p.Thr1533Pro)
c.4816A>C (p.Thr1606Pro)
c.4567A>C (p.Thr1523Pro)
c.4279A>C (p.Thr1427Pro)
c.2845A>C (p.Thr949Pro)
c.2008A>C (p.Thr670Pro)
c.1639A>C (p.Thr547Pro)
n.3150A>C
n.607A>C
c.4687A>C (p.Thr1563Pro)
n.2684A>C
c.2055A>C
c.1969A>C
n.1353A>C
c.2029A>C (p.Thr677Pro)
c.2188A>C (p.Thr730Pro)
c.4318A>C (p.Thr1440Pro)
c.4438A>C (p.Thr1480Pro)
c.3517A>C (p.Thr1173Pro)
c.3337A>C (p.Thr1113Pro)
c.3097A>C (p.Thr1033Pro)
c.2716A>C (p.Thr906Pro)
c.1579A>C (p.Thr527Pro)
c.4648A>C (p.Thr1550Pro)
c.4549A>C (p.Thr1517Pro)
c.4519A>C (p.Thr1507Pro)
c.4489A>C (p.Thr1497Pro)
c.4360A>C (p.Thr1454Pro)
c.4339A>C (p.Thr1447Pro)
n.4634A>C
6g.157200912A>GCA366241215ARID1Bc.4528A>G (p.Thr1510Ala)
c.4597A>G (p.Thr1533Ala)
c.4816A>G (p.Thr1606Ala)
c.4567A>G (p.Thr1523Ala)
c.4279A>G (p.Thr1427Ala)
c.2845A>G (p.Thr949Ala)
c.2008A>G (p.Thr670Ala)
c.1639A>G (p.Thr547Ala)
n.3150A>G
n.607A>G
c.4687A>G (p.Thr1563Ala)
n.2684A>G
c.2055A>G
c.1969A>G
n.1353A>G
c.2029A>G (p.Thr677Ala)
c.2188A>G (p.Thr730Ala)
c.4318A>G (p.Thr1440Ala)
c.4438A>G (p.Thr1480Ala)
c.3517A>G (p.Thr1173Ala)
c.3337A>G (p.Thr1113Ala)
c.3097A>G (p.Thr1033Ala)
c.2716A>G (p.Thr906Ala)
c.1579A>G (p.Thr527Ala)
c.4648A>G (p.Thr1550Ala)
c.4549A>G (p.Thr1517Ala)
c.4519A>G (p.Thr1507Ala)
c.4489A>G (p.Thr1497Ala)
c.4360A>G (p.Thr1454Ala)
c.4339A>G (p.Thr1447Ala)
n.4634A>G
6g.157200912A>TCA366241214ARID1Bc.4528A>T (p.Thr1510Ser)
c.4597A>T (p.Thr1533Ser)
c.4816A>T (p.Thr1606Ser)
c.4567A>T (p.Thr1523Ser)
c.4279A>T (p.Thr1427Ser)
c.2845A>T (p.Thr949Ser)
c.2008A>T (p.Thr670Ser)
c.1639A>T (p.Thr547Ser)
n.3150A>T
n.607A>T
c.4687A>T (p.Thr1563Ser)
n.2684A>T
c.2055A>T
c.1969A>T
n.1353A>T
c.2029A>T (p.Thr677Ser)
c.2188A>T (p.Thr730Ser)
c.4318A>T (p.Thr1440Ser)
c.4438A>T (p.Thr1480Ser)
c.3517A>T (p.Thr1173Ser)
c.3337A>T (p.Thr1113Ser)
c.3097A>T (p.Thr1033Ser)
c.2716A>T (p.Thr906Ser)
c.1579A>T (p.Thr527Ser)
c.4648A>T (p.Thr1550Ser)
c.4549A>T (p.Thr1517Ser)
c.4519A>T (p.Thr1507Ser)
c.4489A>T (p.Thr1497Ser)
c.4360A>T (p.Thr1454Ser)
c.4339A>T (p.Thr1447Ser)
n.4634A>T
6g.157200916_157200917delCA2695207265ARID1Bc.4532_4533del (p.His1511ArgfsTer17)
c.4601_4602del (p.His1534ArgfsTer17)
c.4820_4821del (p.His1607ArgfsTer17)
c.4571_4572del (p.His1524ArgfsTer17)
c.4283_4284del (p.His1428ArgfsTer17)
c.2849_2850del (p.His950ArgfsTer17)
c.2012_2013del (p.His671ArgfsTer17)
c.1643_1644del (p.His548ArgfsTer17)
n.3154_3155del
n.611_612del
c.4691_4692del (p.His1564ArgfsTer17)
n.2688_2689del
c.2059_2060del
c.1973_1974del
n.1357_1358del
c.2033_2034del (p.His678ArgfsTer17)
c.2192_2193del (p.His731ArgfsTer17)
c.4322_4323del (p.His1441ArgfsTer17)
c.4442_4443del (p.His1481ArgfsTer17)
c.3521_3522del (p.His1174ArgfsTer17)
c.3341_3342del (p.His1114ArgfsTer17)
c.3101_3102del (p.His1034ArgfsTer17)
c.2720_2721del (p.His907ArgfsTer17)
c.1583_1584del (p.His528ArgfsTer17)
c.4652_4653del (p.His1551ArgfsTer17)
c.4553_4554del (p.His1518ArgfsTer17)
c.4523_4524del (p.His1508ArgfsTer17)
c.4493_4494del (p.His1498ArgfsTer17)
c.4364_4365del (p.His1455ArgfsTer17)
c.4343_4344del (p.His1448ArgfsTer17)
n.4638_4639del
6g.157200913C>ACA366241216ARID1Bc.4529C>A (p.Thr1510Lys)
c.4598C>A (p.Thr1533Lys)
c.4817C>A (p.Thr1606Lys)
c.4568C>A (p.Thr1523Lys)
c.4280C>A (p.Thr1427Lys)
c.2846C>A (p.Thr949Lys)
c.2009C>A (p.Thr670Lys)
c.1640C>A (p.Thr547Lys)
n.3151C>A
n.608C>A
c.4688C>A (p.Thr1563Lys)
n.2685C>A
c.2056C>A
c.1970C>A
n.1354C>A
c.2030C>A (p.Thr677Lys)
c.2189C>A (p.Thr730Lys)
c.4319C>A (p.Thr1440Lys)
c.4439C>A (p.Thr1480Lys)
c.3518C>A (p.Thr1173Lys)
c.3338C>A (p.Thr1113Lys)
c.3098C>A (p.Thr1033Lys)
c.2717C>A (p.Thr906Lys)
c.1580C>A (p.Thr527Lys)
c.4649C>A (p.Thr1550Lys)
c.4550C>A (p.Thr1517Lys)
c.4520C>A (p.Thr1507Lys)
c.4490C>A (p.Thr1497Lys)
c.4361C>A (p.Thr1454Lys)
c.4340C>A (p.Thr1447Lys)
n.4635C>A
dbSNP
6g.157200913C=CA1675543141ARID1Bc.4529C= (p.Thr1510=)
c.4598C= (p.Thr1533=)
c.4817C= (p.Thr1606=)
c.4568C= (p.Thr1523=)
c.4280C= (p.Thr1427=)
c.2846C= (p.Thr949=)
c.2009C= (p.Thr670=)
c.1640C= (p.Thr547=)
n.3151C=
n.608C=
c.4688C= (p.Thr1563=)
n.2685C=
c.2056C=
c.1970C=
n.1354C=
c.2030C= (p.Thr677=)
c.2189C= (p.Thr730=)
c.4319C= (p.Thr1440=)
c.4439C= (p.Thr1480=)
c.3518C= (p.Thr1173=)
c.3338C= (p.Thr1113=)
c.3098C= (p.Thr1033=)
c.2717C= (p.Thr906=)
c.1580C= (p.Thr527=)
c.4649C= (p.Thr1550=)
c.4550C= (p.Thr1517=)
c.4520C= (p.Thr1507=)
c.4490C= (p.Thr1497=)
c.4361C= (p.Thr1454=)
c.4340C= (p.Thr1447=)
n.4635C=
6g.157200913C>GCA366241217ARID1Bc.4529C>G (p.Thr1510Arg)
c.4598C>G (p.Thr1533Arg)
c.4817C>G (p.Thr1606Arg)
c.4568C>G (p.Thr1523Arg)
c.4280C>G (p.Thr1427Arg)
c.2846C>G (p.Thr949Arg)
c.2009C>G (p.Thr670Arg)
c.1640C>G (p.Thr547Arg)
n.3151C>G
n.608C>G
c.4688C>G (p.Thr1563Arg)
n.2685C>G
c.2056C>G
c.1970C>G
n.1354C>G
c.2030C>G (p.Thr677Arg)
c.2189C>G (p.Thr730Arg)
c.4319C>G (p.Thr1440Arg)
c.4439C>G (p.Thr1480Arg)
c.3518C>G (p.Thr1173Arg)
c.3338C>G (p.Thr1113Arg)
c.3098C>G (p.Thr1033Arg)
c.2717C>G (p.Thr906Arg)
c.1580C>G (p.Thr527Arg)
c.4649C>G (p.Thr1550Arg)
c.4550C>G (p.Thr1517Arg)
c.4520C>G (p.Thr1507Arg)
c.4490C>G (p.Thr1497Arg)
c.4361C>G (p.Thr1454Arg)
c.4340C>G (p.Thr1447Arg)
n.4635C>G
dbSNP
6g.157200913C>TCA366241218ARID1Bc.4529C>T (p.Thr1510Ile)
c.4598C>T (p.Thr1533Ile)
c.4817C>T (p.Thr1606Ile)
c.4568C>T (p.Thr1523Ile)
c.4280C>T (p.Thr1427Ile)
c.2846C>T (p.Thr949Ile)
c.2009C>T (p.Thr670Ile)
c.1640C>T (p.Thr547Ile)
n.3151C>T
n.608C>T
c.4688C>T (p.Thr1563Ile)
n.2685C>T
c.2056C>T
c.1970C>T
n.1354C>T
c.2030C>T (p.Thr677Ile)
c.2189C>T (p.Thr730Ile)
c.4319C>T (p.Thr1440Ile)
c.4439C>T (p.Thr1480Ile)
c.3518C>T (p.Thr1173Ile)
c.3338C>T (p.Thr1113Ile)
c.3098C>T (p.Thr1033Ile)
c.2717C>T (p.Thr906Ile)
c.1580C>T (p.Thr527Ile)
c.4649C>T (p.Thr1550Ile)
c.4550C>T (p.Thr1517Ile)
c.4520C>T (p.Thr1507Ile)
c.4490C>T (p.Thr1497Ile)
c.4361C>T (p.Thr1454Ile)
c.4340C>T (p.Thr1447Ile)
n.4635C>T
dbSNP
6g.157200914delCA2580075312ARID1Bc.4530del (p.His1511ThrfsTer7)
c.4599del (p.His1534ThrfsTer7)
c.4818del (p.His1607ThrfsTer7)
c.4569del (p.His1524ThrfsTer7)
c.4281del (p.His1428ThrfsTer7)
c.2847del (p.His950ThrfsTer7)
c.2010del (p.His671ThrfsTer7)
c.1641del (p.His548ThrfsTer7)
n.3152del
n.609del
c.4689del (p.His1564ThrfsTer7)
n.2686del
c.2057del
c.1971del
n.1355del
c.2031del (p.His678ThrfsTer7)
c.2190del (p.His731ThrfsTer7)
c.4320del (p.His1441ThrfsTer7)
c.4440del (p.His1481ThrfsTer7)
c.3519del (p.His1174ThrfsTer7)
c.3339del (p.His1114ThrfsTer7)
c.3099del (p.His1034ThrfsTer7)
c.2718del (p.His907ThrfsTer7)
c.1581del (p.His528ThrfsTer7)
c.4650del (p.His1551ThrfsTer7)
c.4551del (p.His1518ThrfsTer7)
c.4521del (p.His1508ThrfsTer7)
c.4491del (p.His1498ThrfsTer7)
c.4362del (p.His1455ThrfsTer7)
c.4341del (p.His1448ThrfsTer7)
n.4636del
ClinVar
6g.157200914A=CA1675543142ARID1Bc.4530A= (p.Thr1510=)
c.4599A= (p.Thr1533=)
c.4818A= (p.Thr1606=)
c.4569A= (p.Thr1523=)
c.4281A= (p.Thr1427=)
c.2847A= (p.Thr949=)
c.2010A= (p.Thr670=)
c.1641A= (p.Thr547=)
n.3152A=
n.609A=
c.4689A= (p.Thr1563=)
n.2686A=
c.2057A=
c.1971A=
n.1355A=
c.2031A= (p.Thr677=)
c.2190A= (p.Thr730=)
c.4320A= (p.Thr1440=)
c.4440A= (p.Thr1480=)
c.3519A= (p.Thr1173=)
c.3339A= (p.Thr1113=)
c.3099A= (p.Thr1033=)
c.2718A= (p.Thr906=)
c.1581A= (p.Thr527=)
c.4650A= (p.Thr1550=)
c.4551A= (p.Thr1517=)
c.4521A= (p.Thr1507=)
c.4491A= (p.Thr1497=)
c.4362A= (p.Thr1454=)
c.4341A= (p.Thr1447=)
n.4636A=
6g.157200914A>CCA452977989ARID1Bc.4530A>C (p.Thr1510=)
c.4599A>C (p.Thr1533=)
c.4818A>C (p.Thr1606=)
c.4569A>C (p.Thr1523=)
c.4281A>C (p.Thr1427=)
c.2847A>C (p.Thr949=)
c.2010A>C (p.Thr670=)
c.1641A>C (p.Thr547=)
n.3152A>C
n.609A>C
c.4689A>C (p.Thr1563=)
n.2686A>C
c.2057A>C
c.1971A>C
n.1355A>C
c.2031A>C (p.Thr677=)
c.2190A>C (p.Thr730=)
c.4320A>C (p.Thr1440=)
c.4440A>C (p.Thr1480=)
c.3519A>C (p.Thr1173=)
c.3339A>C (p.Thr1113=)
c.3099A>C (p.Thr1033=)
c.2718A>C (p.Thr906=)
c.1581A>C (p.Thr527=)
c.4650A>C (p.Thr1550=)
c.4551A>C (p.Thr1517=)
c.4521A>C (p.Thr1507=)
c.4491A>C (p.Thr1497=)
c.4362A>C (p.Thr1454=)
c.4341A>C (p.Thr1447=)
n.4636A>C
6g.157200914A>GCA452977988ARID1Bc.4530A>G (p.Thr1510=)
c.4599A>G (p.Thr1533=)
c.4818A>G (p.Thr1606=)
c.4569A>G (p.Thr1523=)
c.4281A>G (p.Thr1427=)
c.2847A>G (p.Thr949=)
c.2010A>G (p.Thr670=)
c.1641A>G (p.Thr547=)
n.3152A>G
n.609A>G
c.4689A>G (p.Thr1563=)
n.2686A>G
c.2057A>G
c.1971A>G
n.1355A>G
c.2031A>G (p.Thr677=)
c.2190A>G (p.Thr730=)
c.4320A>G (p.Thr1440=)
c.4440A>G (p.Thr1480=)
c.3519A>G (p.Thr1173=)
c.3339A>G (p.Thr1113=)
c.3099A>G (p.Thr1033=)
c.2718A>G (p.Thr906=)
c.1581A>G (p.Thr527=)
c.4650A>G (p.Thr1550=)
c.4551A>G (p.Thr1517=)
c.4521A>G (p.Thr1507=)
c.4491A>G (p.Thr1497=)
c.4362A>G (p.Thr1454=)
c.4341A>G (p.Thr1447=)
n.4636A>G
6g.157200914A>TCA452977990ARID1Bc.4530A>T (p.Thr1510=)
c.4599A>T (p.Thr1533=)
c.4818A>T (p.Thr1606=)
c.4569A>T (p.Thr1523=)
c.4281A>T (p.Thr1427=)
c.2847A>T (p.Thr949=)
c.2010A>T (p.Thr670=)
c.1641A>T (p.Thr547=)
n.3152A>T
n.609A>T
c.4689A>T (p.Thr1563=)
n.2686A>T
c.2057A>T
c.1971A>T
n.1355A>T
c.2031A>T (p.Thr677=)
c.2190A>T (p.Thr730=)
c.4320A>T (p.Thr1440=)
c.4440A>T (p.Thr1480=)
c.3519A>T (p.Thr1173=)
c.3339A>T (p.Thr1113=)
c.3099A>T (p.Thr1033=)
c.2718A>T (p.Thr906=)
c.1581A>T (p.Thr527=)
c.4650A>T (p.Thr1550=)
c.4551A>T (p.Thr1517=)
c.4521A>T (p.Thr1507=)
c.4491A>T (p.Thr1497=)
c.4362A>T (p.Thr1454=)
c.4341A>T (p.Thr1447=)
n.4636A>T
dbSNP gnomAD v2 gnomAD v4
6g.157200915C>ACA366241219ARID1Bc.4531C>A (p.His1511Asn)
c.4600C>A (p.His1534Asn)
c.4819C>A (p.His1607Asn)
c.4570C>A (p.His1524Asn)
c.4282C>A (p.His1428Asn)
c.2848C>A (p.His950Asn)
c.2011C>A (p.His671Asn)
c.1642C>A (p.His548Asn)
n.3153C>A
n.610C>A
c.4690C>A (p.His1564Asn)
n.2687C>A
c.2058C>A
c.1972C>A
n.1356C>A
c.2032C>A (p.His678Asn)
c.2191C>A (p.His731Asn)
c.4321C>A (p.His1441Asn)
c.4441C>A (p.His1481Asn)
c.3520C>A (p.His1174Asn)
c.3340C>A (p.His1114Asn)
c.3100C>A (p.His1034Asn)
c.2719C>A (p.His907Asn)
c.1582C>A (p.His528Asn)
c.4651C>A (p.His1551Asn)
c.4552C>A (p.His1518Asn)
c.4522C>A (p.His1508Asn)
c.4492C>A (p.His1498Asn)
c.4363C>A (p.His1455Asn)
c.4342C>A (p.His1448Asn)
n.4637C>A
6g.157200915C=CA1675543143ARID1Bc.4531C= (p.His1511=)
c.4600C= (p.His1534=)
c.4819C= (p.His1607=)
c.4570C= (p.His1524=)
c.4282C= (p.His1428=)
c.2848C= (p.His950=)
c.2011C= (p.His671=)
c.1642C= (p.His548=)
n.3153C=
n.610C=
c.4690C= (p.His1564=)
n.2687C=
c.2058C=
c.1972C=
n.1356C=
c.2032C= (p.His678=)
c.2191C= (p.His731=)
c.4321C= (p.His1441=)
c.4441C= (p.His1481=)
c.3520C= (p.His1174=)
c.3340C= (p.His1114=)
c.3100C= (p.His1034=)
c.2719C= (p.His907=)
c.1582C= (p.His528=)
c.4651C= (p.His1551=)
c.4552C= (p.His1518=)
c.4522C= (p.His1508=)
c.4492C= (p.His1498=)
c.4363C= (p.His1455=)
c.4342C= (p.His1448=)
n.4637C=
6g.157200915C>GCA366241220ARID1Bc.4531C>G (p.His1511Asp)
c.4600C>G (p.His1534Asp)
c.4819C>G (p.His1607Asp)
c.4570C>G (p.His1524Asp)
c.4282C>G (p.His1428Asp)
c.2848C>G (p.His950Asp)
c.2011C>G (p.His671Asp)
c.1642C>G (p.His548Asp)
n.3153C>G
n.610C>G
c.4690C>G (p.His1564Asp)
n.2687C>G
c.2058C>G
c.1972C>G
n.1356C>G
c.2032C>G (p.His678Asp)
c.2191C>G (p.His731Asp)
c.4321C>G (p.His1441Asp)
c.4441C>G (p.His1481Asp)
c.3520C>G (p.His1174Asp)
c.3340C>G (p.His1114Asp)
c.3100C>G (p.His1034Asp)
c.2719C>G (p.His907Asp)
c.1582C>G (p.His528Asp)
c.4651C>G (p.His1551Asp)
c.4552C>G (p.His1518Asp)
c.4522C>G (p.His1508Asp)
c.4492C>G (p.His1498Asp)
c.4363C>G (p.His1455Asp)
c.4342C>G (p.His1448Asp)
n.4637C>G
6g.157200915C>TCA366241221ARID1Bc.4531C>T (p.His1511Tyr)
c.4600C>T (p.His1534Tyr)
c.4819C>T (p.His1607Tyr)
c.4570C>T (p.His1524Tyr)
c.4282C>T (p.His1428Tyr)
c.2848C>T (p.His950Tyr)
c.2011C>T (p.His671Tyr)
c.1642C>T (p.His548Tyr)
n.3153C>T
n.610C>T
c.4690C>T (p.His1564Tyr)
n.2687C>T
c.2058C>T
c.1972C>T
n.1356C>T
c.2032C>T (p.His678Tyr)
c.2191C>T (p.His731Tyr)
c.4321C>T (p.His1441Tyr)
c.4441C>T (p.His1481Tyr)
c.3520C>T (p.His1174Tyr)
c.3340C>T (p.His1114Tyr)
c.3100C>T (p.His1034Tyr)
c.2719C>T (p.His907Tyr)
c.1582C>T (p.His528Tyr)
c.4651C>T (p.His1551Tyr)
c.4552C>T (p.His1518Tyr)
c.4522C>T (p.His1508Tyr)
c.4492C>T (p.His1498Tyr)
c.4363C>T (p.His1455Tyr)
c.4342C>T (p.His1448Tyr)
n.4637C>T
6g.157200916A=CA1675543144ARID1Bc.4532A= (p.His1511=)
c.4601A= (p.His1534=)
c.4820A= (p.His1607=)
c.4571A= (p.His1524=)
c.4283A= (p.His1428=)
c.2849A= (p.His950=)
c.2012A= (p.His671=)
c.1643A= (p.His548=)
n.3154A=
n.611A=
c.4691A= (p.His1564=)
n.2688A=
c.2059A=
c.1973A=
n.1357A=
c.2033A= (p.His678=)
c.2192A= (p.His731=)
c.4322A= (p.His1441=)
c.4442A= (p.His1481=)
c.3521A= (p.His1174=)
c.3341A= (p.His1114=)
c.3101A= (p.His1034=)
c.2720A= (p.His907=)
c.1583A= (p.His528=)
c.4652A= (p.His1551=)
c.4553A= (p.His1518=)
c.4523A= (p.His1508=)
c.4493A= (p.His1498=)
c.4364A= (p.His1455=)
c.4343A= (p.His1448=)
n.4638A=
6g.157200916A>CCA366241222ARID1Bc.4532A>C (p.His1511Pro)
c.4601A>C (p.His1534Pro)
c.4820A>C (p.His1607Pro)
c.4571A>C (p.His1524Pro)
c.4283A>C (p.His1428Pro)
c.2849A>C (p.His950Pro)
c.2012A>C (p.His671Pro)
c.1643A>C (p.His548Pro)
n.3154A>C
n.611A>C
c.4691A>C (p.His1564Pro)
n.2688A>C
c.2059A>C
c.1973A>C
n.1357A>C
c.2033A>C (p.His678Pro)
c.2192A>C (p.His731Pro)
c.4322A>C (p.His1441Pro)
c.4442A>C (p.His1481Pro)
c.3521A>C (p.His1174Pro)
c.3341A>C (p.His1114Pro)
c.3101A>C (p.His1034Pro)
c.2720A>C (p.His907Pro)
c.1583A>C (p.His528Pro)
c.4652A>C (p.His1551Pro)
c.4553A>C (p.His1518Pro)
c.4523A>C (p.His1508Pro)
c.4493A>C (p.His1498Pro)
c.4364A>C (p.His1455Pro)
c.4343A>C (p.His1448Pro)
n.4638A>C
6g.157200916A>GCA366241223ARID1Bc.4532A>G (p.His1511Arg)
c.4601A>G (p.His1534Arg)
c.4820A>G (p.His1607Arg)
c.4571A>G (p.His1524Arg)
c.4283A>G (p.His1428Arg)
c.2849A>G (p.His950Arg)
c.2012A>G (p.His671Arg)
c.1643A>G (p.His548Arg)
n.3154A>G
n.611A>G
c.4691A>G (p.His1564Arg)
n.2688A>G
c.2059A>G
c.1973A>G
n.1357A>G
c.2033A>G (p.His678Arg)
c.2192A>G (p.His731Arg)
c.4322A>G (p.His1441Arg)
c.4442A>G (p.His1481Arg)
c.3521A>G (p.His1174Arg)
c.3341A>G (p.His1114Arg)
c.3101A>G (p.His1034Arg)
c.2720A>G (p.His907Arg)
c.1583A>G (p.His528Arg)
c.4652A>G (p.His1551Arg)
c.4553A>G (p.His1518Arg)
c.4523A>G (p.His1508Arg)
c.4493A>G (p.His1498Arg)
c.4364A>G (p.His1455Arg)
c.4343A>G (p.His1448Arg)
n.4638A>G
6g.157200916A>TCA4067684ARID1Bc.4532A>T (p.His1511Leu)
c.4601A>T (p.His1534Leu)
c.4820A>T (p.His1607Leu)
c.4571A>T (p.His1524Leu)
c.4283A>T (p.His1428Leu)
c.2849A>T (p.His950Leu)
c.2012A>T (p.His671Leu)
c.1643A>T (p.His548Leu)
n.3154A>T
n.611A>T
c.4691A>T (p.His1564Leu)
n.2688A>T
c.2059A>T
c.1973A>T
n.1357A>T
c.2033A>T (p.His678Leu)
c.2192A>T (p.His731Leu)
c.4322A>T (p.His1441Leu)
c.4442A>T (p.His1481Leu)
c.3521A>T (p.His1174Leu)
c.3341A>T (p.His1114Leu)
c.3101A>T (p.His1034Leu)
c.2720A>T (p.His907Leu)
c.1583A>T (p.His528Leu)
c.4652A>T (p.His1551Leu)
c.4553A>T (p.His1518Leu)
c.4523A>T (p.His1508Leu)
c.4493A>T (p.His1498Leu)
c.4364A>T (p.His1455Leu)
c.4343A>T (p.His1448Leu)
n.4638A>T
dbSNP ExAC gnomAD v2 gnomAD v4
6g.157200916dupCA10602993ARID1Bc.4532dup (p.His1511GlnfsTer18)
c.4601dup (p.His1534GlnfsTer18)
c.4820dup (p.His1607GlnfsTer18)
c.4571dup (p.His1524GlnfsTer18)
c.4283dup (p.His1428GlnfsTer18)
c.2849dup (p.His950GlnfsTer18)
c.2012dup (p.His671GlnfsTer18)
c.1643dup (p.His548GlnfsTer18)
n.3154dup
n.611dup
c.4691dup (p.His1564GlnfsTer18)
n.2688dup
c.2059dup
c.1973dup
n.1357dup
c.2033dup (p.His678GlnfsTer18)
c.2192dup (p.His731GlnfsTer18)
c.4322dup (p.His1441GlnfsTer18)
c.4442dup (p.His1481GlnfsTer18)
c.3521dup (p.His1174GlnfsTer18)
c.3341dup (p.His1114GlnfsTer18)
c.3101dup (p.His1034GlnfsTer18)
c.2720dup (p.His907GlnfsTer18)
c.1583dup (p.His528GlnfsTer18)
c.4652dup (p.His1551GlnfsTer18)
c.4553dup (p.His1518GlnfsTer18)
c.4523dup (p.His1508GlnfsTer18)
c.4493dup (p.His1498GlnfsTer18)
c.4364dup (p.His1455GlnfsTer18)
c.4343dup (p.His1448GlnfsTer18)
n.4638dup
ClinVar dbSNP
6g.157200917C>ACA366241224ARID1Bc.4533C>A (p.His1511Gln)
c.4602C>A (p.His1534Gln)
c.4821C>A (p.His1607Gln)
c.4572C>A (p.His1524Gln)
c.4284C>A (p.His1428Gln)
c.2850C>A (p.His950Gln)
c.2013C>A (p.His671Gln)
c.1644C>A (p.His548Gln)
n.3155C>A
n.612C>A
c.4692C>A (p.His1564Gln)
n.2689C>A
c.2060C>A
c.1974C>A
n.1358C>A
c.2034C>A (p.His678Gln)
c.2193C>A (p.His731Gln)
c.4323C>A (p.His1441Gln)
c.4443C>A (p.His1481Gln)
c.3522C>A (p.His1174Gln)
c.3342C>A (p.His1114Gln)
c.3102C>A (p.His1034Gln)
c.2721C>A (p.His907Gln)
c.1584C>A (p.His528Gln)
c.4653C>A (p.His1551Gln)
c.4554C>A (p.His1518Gln)
c.4524C>A (p.His1508Gln)
c.4494C>A (p.His1498Gln)
c.4365C>A (p.His1455Gln)
c.4344C>A (p.His1448Gln)
n.4639C>A
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.157200917C=CA1675543145ARID1Bc.4533C= (p.His1511=)
c.4602C= (p.His1534=)
c.4821C= (p.His1607=)
c.4572C= (p.His1524=)
c.4284C= (p.His1428=)
c.2850C= (p.His950=)
c.2013C= (p.His671=)
c.1644C= (p.His548=)
n.3155C=
n.612C=
c.4692C= (p.His1564=)
n.2689C=
c.2060C=
c.1974C=
n.1358C=
c.2034C= (p.His678=)
c.2193C= (p.His731=)
c.4323C= (p.His1441=)
c.4443C= (p.His1481=)
c.3522C= (p.His1174=)
c.3342C= (p.His1114=)
c.3102C= (p.His1034=)
c.2721C= (p.His907=)
c.1584C= (p.His528=)
c.4653C= (p.His1551=)
c.4554C= (p.His1518=)
c.4524C= (p.His1508=)
c.4494C= (p.His1498=)
c.4365C= (p.His1455=)
c.4344C= (p.His1448=)
n.4639C=
6g.157200917C>GCA366241225ARID1Bc.4533C>G (p.His1511Gln)
c.4602C>G (p.His1534Gln)
c.4821C>G (p.His1607Gln)
c.4572C>G (p.His1524Gln)
c.4284C>G (p.His1428Gln)
c.2850C>G (p.His950Gln)
c.2013C>G (p.His671Gln)
c.1644C>G (p.His548Gln)
n.3155C>G
n.612C>G
c.4692C>G (p.His1564Gln)
n.2689C>G
c.2060C>G
c.1974C>G
n.1358C>G
c.2034C>G (p.His678Gln)
c.2193C>G (p.His731Gln)
c.4323C>G (p.His1441Gln)
c.4443C>G (p.His1481Gln)
c.3522C>G (p.His1174Gln)
c.3342C>G (p.His1114Gln)
c.3102C>G (p.His1034Gln)
c.2721C>G (p.His907Gln)
c.1584C>G (p.His528Gln)
c.4653C>G (p.His1551Gln)
c.4554C>G (p.His1518Gln)
c.4524C>G (p.His1508Gln)
c.4494C>G (p.His1498Gln)
c.4365C>G (p.His1455Gln)
c.4344C>G (p.His1448Gln)
n.4639C>G
6g.157200917C>TCA150369893ARID1Bc.4533C>T (p.His1511=)
c.4602C>T (p.His1534=)
c.4821C>T (p.His1607=)
c.4572C>T (p.His1524=)
c.4284C>T (p.His1428=)
c.2850C>T (p.His950=)
c.2013C>T (p.His671=)
c.1644C>T (p.His548=)
n.3155C>T
n.612C>T
c.4692C>T (p.His1564=)
n.2689C>T
c.2060C>T
c.1974C>T
n.1358C>T
c.2034C>T (p.His678=)
c.2193C>T (p.His731=)
c.4323C>T (p.His1441=)
c.4443C>T (p.His1481=)
c.3522C>T (p.His1174=)
c.3342C>T (p.His1114=)
c.3102C>T (p.His1034=)
c.2721C>T (p.His907=)
c.1584C>T (p.His528=)
c.4653C>T (p.His1551=)
c.4554C>T (p.His1518=)
c.4524C>T (p.His1508=)
c.4494C>T (p.His1498=)
c.4365C>T (p.His1455=)
c.4344C>T (p.His1448=)
n.4639C>T
ClinVar dbSNP gnomAD v3 gnomAD v4
6g.157200918G>ACA4067685ARID1Bc.4534G>A (p.Gly1512Arg)
c.4603G>A (p.Gly1535Arg)
c.4822G>A (p.Gly1608Arg)
c.4573G>A (p.Gly1525Arg)
c.4285G>A (p.Gly1429Arg)
c.2851G>A (p.Gly951Arg)
c.2014G>A (p.Gly672Arg)
c.1645G>A (p.Gly549Arg)
n.3156G>A
n.613G>A
c.4693G>A (p.Gly1565Arg)
n.2690G>A
c.2061G>A
c.1975G>A
n.1359G>A
c.2035G>A (p.Gly679Arg)
c.2194G>A (p.Gly732Arg)
c.4324G>A (p.Gly1442Arg)
c.4444G>A (p.Gly1482Arg)
c.3523G>A (p.Gly1175Arg)
c.3343G>A (p.Gly1115Arg)
c.3103G>A (p.Gly1035Arg)
c.2722G>A (p.Gly908Arg)
c.1585G>A (p.Gly529Arg)
c.4654G>A (p.Gly1552Arg)
c.4555G>A (p.Gly1519Arg)
c.4525G>A (p.Gly1509Arg)
c.4495G>A (p.Gly1499Arg)
c.4366G>A (p.Gly1456Arg)
c.4345G>A (p.Gly1449Arg)
n.4640G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.157200918G>CCA366241227ARID1Bc.4534G>C (p.Gly1512Arg)
c.4603G>C (p.Gly1535Arg)
c.4822G>C (p.Gly1608Arg)
c.4573G>C (p.Gly1525Arg)
c.4285G>C (p.Gly1429Arg)
c.2851G>C (p.Gly951Arg)
c.2014G>C (p.Gly672Arg)
c.1645G>C (p.Gly549Arg)
n.3156G>C
n.613G>C
c.4693G>C (p.Gly1565Arg)
n.2690G>C
c.2061G>C
c.1975G>C
n.1359G>C
c.2035G>C (p.Gly679Arg)
c.2194G>C (p.Gly732Arg)
c.4324G>C (p.Gly1442Arg)
c.4444G>C (p.Gly1482Arg)
c.3523G>C (p.Gly1175Arg)
c.3343G>C (p.Gly1115Arg)
c.3103G>C (p.Gly1035Arg)
c.2722G>C (p.Gly908Arg)
c.1585G>C (p.Gly529Arg)
c.4654G>C (p.Gly1552Arg)
c.4555G>C (p.Gly1519Arg)
c.4525G>C (p.Gly1509Arg)
c.4495G>C (p.Gly1499Arg)
c.4366G>C (p.Gly1456Arg)
c.4345G>C (p.Gly1449Arg)
n.4640G>C
6g.157200918G=CA1675543146ARID1Bc.4534G= (p.Gly1512=)
c.4603G= (p.Gly1535=)
c.4822G= (p.Gly1608=)
c.4573G= (p.Gly1525=)
c.4285G= (p.Gly1429=)
c.2851G= (p.Gly951=)
c.2014G= (p.Gly672=)
c.1645G= (p.Gly549=)
n.3156G=
n.613G=
c.4693G= (p.Gly1565=)
n.2690G=
c.2061G=
c.1975G=
n.1359G=
c.2035G= (p.Gly679=)
c.2194G= (p.Gly732=)
c.4324G= (p.Gly1442=)
c.4444G= (p.Gly1482=)
c.3523G= (p.Gly1175=)
c.3343G= (p.Gly1115=)
c.3103G= (p.Gly1035=)
c.2722G= (p.Gly908=)
c.1585G= (p.Gly529=)
c.4654G= (p.Gly1552=)
c.4555G= (p.Gly1519=)
c.4525G= (p.Gly1509=)
c.4495G= (p.Gly1499=)
c.4366G= (p.Gly1456=)
c.4345G= (p.Gly1449=)
n.4640G=
6g.157200918G>TCA366241226ARID1Bc.4534G>T (p.Gly1512Ter)
c.4603G>T (p.Gly1535Ter)
c.4822G>T (p.Gly1608Ter)
c.4573G>T (p.Gly1525Ter)
c.4285G>T (p.Gly1429Ter)
c.2851G>T (p.Gly951Ter)
c.2014G>T (p.Gly672Ter)
c.1645G>T (p.Gly549Ter)
n.3156G>T
n.613G>T
c.4693G>T (p.Gly1565Ter)
n.2690G>T
c.2061G>T
c.1975G>T
n.1359G>T
c.2035G>T (p.Gly679Ter)
c.2194G>T (p.Gly732Ter)
c.4324G>T (p.Gly1442Ter)
c.4444G>T (p.Gly1482Ter)
c.3523G>T (p.Gly1175Ter)
c.3343G>T (p.Gly1115Ter)
c.3103G>T (p.Gly1035Ter)
c.2722G>T (p.Gly908Ter)
c.1585G>T (p.Gly529Ter)
c.4654G>T (p.Gly1552Ter)
c.4555G>T (p.Gly1519Ter)
c.4525G>T (p.Gly1509Ter)
c.4495G>T (p.Gly1499Ter)
c.4366G>T (p.Gly1456Ter)
c.4345G>T (p.Gly1449Ter)
n.4640G>T
ClinVar dbSNP
6g.157200919G>ACA366241228ARID1Bc.4535G>A (p.Gly1512Glu)
c.4604G>A (p.Gly1535Glu)
c.4823G>A (p.Gly1608Glu)
c.4574G>A (p.Gly1525Glu)
c.4286G>A (p.Gly1429Glu)
c.2852G>A (p.Gly951Glu)
c.2015G>A (p.Gly672Glu)
c.1646G>A (p.Gly549Glu)
n.3157G>A
n.614G>A
c.4694G>A (p.Gly1565Glu)
n.2691G>A
c.2062G>A
c.1976G>A
n.1360G>A
c.2036G>A (p.Gly679Glu)
c.2195G>A (p.Gly732Glu)
c.4325G>A (p.Gly1442Glu)
c.4445G>A (p.Gly1482Glu)
c.3524G>A (p.Gly1175Glu)
c.3344G>A (p.Gly1115Glu)
c.3104G>A (p.Gly1035Glu)
c.2723G>A (p.Gly908Glu)
c.1586G>A (p.Gly529Glu)
c.4655G>A (p.Gly1552Glu)
c.4556G>A (p.Gly1519Glu)
c.4526G>A (p.Gly1509Glu)
c.4496G>A (p.Gly1499Glu)
c.4367G>A (p.Gly1456Glu)
c.4346G>A (p.Gly1449Glu)
n.4641G>A
6g.157200919G>CCA366241230ARID1Bc.4535G>C (p.Gly1512Ala)
c.4604G>C (p.Gly1535Ala)
c.4823G>C (p.Gly1608Ala)
c.4574G>C (p.Gly1525Ala)
c.4286G>C (p.Gly1429Ala)
c.2852G>C (p.Gly951Ala)
c.2015G>C (p.Gly672Ala)
c.1646G>C (p.Gly549Ala)
n.3157G>C
n.614G>C
c.4694G>C (p.Gly1565Ala)
n.2691G>C
c.2062G>C
c.1976G>C
n.1360G>C
c.2036G>C (p.Gly679Ala)
c.2195G>C (p.Gly732Ala)
c.4325G>C (p.Gly1442Ala)
c.4445G>C (p.Gly1482Ala)
c.3524G>C (p.Gly1175Ala)
c.3344G>C (p.Gly1115Ala)
c.3104G>C (p.Gly1035Ala)
c.2723G>C (p.Gly908Ala)
c.1586G>C (p.Gly529Ala)
c.4655G>C (p.Gly1552Ala)
c.4556G>C (p.Gly1519Ala)
c.4526G>C (p.Gly1509Ala)
c.4496G>C (p.Gly1499Ala)
c.4367G>C (p.Gly1456Ala)
c.4346G>C (p.Gly1449Ala)
n.4641G>C
6g.157200919G>TCA366241229ARID1Bc.4535G>T (p.Gly1512Val)
c.4604G>T (p.Gly1535Val)
c.4823G>T (p.Gly1608Val)
c.4574G>T (p.Gly1525Val)
c.4286G>T (p.Gly1429Val)
c.2852G>T (p.Gly951Val)
c.2015G>T (p.Gly672Val)
c.1646G>T (p.Gly549Val)
n.3157G>T
n.614G>T
c.4694G>T (p.Gly1565Val)
n.2691G>T
c.2062G>T
c.1976G>T
n.1360G>T
c.2036G>T (p.Gly679Val)
c.2195G>T (p.Gly732Val)
c.4325G>T (p.Gly1442Val)
c.4445G>T (p.Gly1482Val)
c.3524G>T (p.Gly1175Val)
c.3344G>T (p.Gly1115Val)
c.3104G>T (p.Gly1035Val)
c.2723G>T (p.Gly908Val)
c.1586G>T (p.Gly529Val)
c.4655G>T (p.Gly1552Val)
c.4556G>T (p.Gly1519Val)
c.4526G>T (p.Gly1509Val)
c.4496G>T (p.Gly1499Val)
c.4367G>T (p.Gly1456Val)
c.4346G>T (p.Gly1449Val)
n.4641G>T
6g.157200920A>CCA452977998ARID1Bc.4536A>C (p.Gly1512=)
c.4605A>C (p.Gly1535=)
c.4824A>C (p.Gly1608=)
c.4575A>C (p.Gly1525=)
c.4287A>C (p.Gly1429=)
c.2853A>C (p.Gly951=)
c.2016A>C (p.Gly672=)
c.1647A>C (p.Gly549=)
n.3158A>C
n.615A>C
c.4695A>C (p.Gly1565=)
n.2692A>C
c.2063A>C
c.1977A>C
n.1361A>C
c.2037A>C (p.Gly679=)
c.2196A>C (p.Gly732=)
c.4326A>C (p.Gly1442=)
c.4446A>C (p.Gly1482=)
c.3525A>C (p.Gly1175=)
c.3345A>C (p.Gly1115=)
c.3105A>C (p.Gly1035=)
c.2724A>C (p.Gly908=)
c.1587A>C (p.Gly529=)
c.4656A>C (p.Gly1552=)
c.4557A>C (p.Gly1519=)
c.4527A>C (p.Gly1509=)
c.4497A>C (p.Gly1499=)
c.4368A>C (p.Gly1456=)
c.4347A>C (p.Gly1449=)
n.4642A>C
6g.157200920A>GCA452977999ARID1Bc.4536A>G (p.Gly1512=)
c.4605A>G (p.Gly1535=)
c.4824A>G (p.Gly1608=)
c.4575A>G (p.Gly1525=)
c.4287A>G (p.Gly1429=)
c.2853A>G (p.Gly951=)
c.2016A>G (p.Gly672=)
c.1647A>G (p.Gly549=)
n.3158A>G
n.615A>G
c.4695A>G (p.Gly1565=)
n.2692A>G
c.2063A>G
c.1977A>G
n.1361A>G
c.2037A>G (p.Gly679=)
c.2196A>G (p.Gly732=)
c.4326A>G (p.Gly1442=)
c.4446A>G (p.Gly1482=)
c.3525A>G (p.Gly1175=)
c.3345A>G (p.Gly1115=)
c.3105A>G (p.Gly1035=)
c.2724A>G (p.Gly908=)
c.1587A>G (p.Gly529=)
c.4656A>G (p.Gly1552=)
c.4557A>G (p.Gly1519=)
c.4527A>G (p.Gly1509=)
c.4497A>G (p.Gly1499=)
c.4368A>G (p.Gly1456=)
c.4347A>G (p.Gly1449=)
n.4642A>G
6g.157200920A>TCA452978001ARID1Bc.4536A>T (p.Gly1512=)
c.4605A>T (p.Gly1535=)
c.4824A>T (p.Gly1608=)
c.4575A>T (p.Gly1525=)
c.4287A>T (p.Gly1429=)
c.2853A>T (p.Gly951=)
c.2016A>T (p.Gly672=)
c.1647A>T (p.Gly549=)
n.3158A>T
n.615A>T
c.4695A>T (p.Gly1565=)
n.2692A>T
c.2063A>T
c.1977A>T
n.1361A>T
c.2037A>T (p.Gly679=)
c.2196A>T (p.Gly732=)
c.4326A>T (p.Gly1442=)
c.4446A>T (p.Gly1482=)
c.3525A>T (p.Gly1175=)
c.3345A>T (p.Gly1115=)
c.3105A>T (p.Gly1035=)
c.2724A>T (p.Gly908=)
c.1587A>T (p.Gly529=)
c.4656A>T (p.Gly1552=)
c.4557A>T (p.Gly1519=)
c.4527A>T (p.Gly1509=)
c.4497A>T (p.Gly1499=)
c.4368A>T (p.Gly1456=)
c.4347A>T (p.Gly1449=)
n.4642A>T
6g.157200921A>CCA366241231ARID1Bc.4537A>C (p.Ile1513Leu)
c.4606A>C (p.Ile1536Leu)
c.4825A>C (p.Ile1609Leu)
c.4576A>C (p.Ile1526Leu)
c.4288A>C (p.Ile1430Leu)
c.2854A>C (p.Ile952Leu)
c.2017A>C (p.Ile673Leu)
c.1648A>C (p.Ile550Leu)
n.3159A>C
n.616A>C
c.4696A>C (p.Ile1566Leu)
n.2693A>C
c.2064A>C
c.1978A>C
n.1362A>C
c.2038A>C (p.Ile680Leu)
c.2197A>C (p.Ile733Leu)
c.4327A>C (p.Ile1443Leu)
c.4447A>C (p.Ile1483Leu)
c.3526A>C (p.Ile1176Leu)
c.3346A>C (p.Ile1116Leu)
c.3106A>C (p.Ile1036Leu)
c.2725A>C (p.Ile909Leu)
c.1588A>C (p.Ile530Leu)
c.4657A>C (p.Ile1553Leu)
c.4558A>C (p.Ile1520Leu)
c.4528A>C (p.Ile1510Leu)
c.4498A>C (p.Ile1500Leu)
c.4369A>C (p.Ile1457Leu)
c.4348A>C (p.Ile1450Leu)
n.4643A>C
6g.157200921A>GCA366241232ARID1Bc.4537A>G (p.Ile1513Val)
c.4606A>G (p.Ile1536Val)
c.4825A>G (p.Ile1609Val)
c.4576A>G (p.Ile1526Val)
c.4288A>G (p.Ile1430Val)
c.2854A>G (p.Ile952Val)
c.2017A>G (p.Ile673Val)
c.1648A>G (p.Ile550Val)
n.3159A>G
n.616A>G
c.4696A>G (p.Ile1566Val)
n.2693A>G
c.2064A>G
c.1978A>G
n.1362A>G
c.2038A>G (p.Ile680Val)
c.2197A>G (p.Ile733Val)
c.4327A>G (p.Ile1443Val)
c.4447A>G (p.Ile1483Val)
c.3526A>G (p.Ile1176Val)
c.3346A>G (p.Ile1116Val)
c.3106A>G (p.Ile1036Val)
c.2725A>G (p.Ile909Val)
c.1588A>G (p.Ile530Val)
c.4657A>G (p.Ile1553Val)
c.4558A>G (p.Ile1520Val)
c.4528A>G (p.Ile1510Val)
c.4498A>G (p.Ile1500Val)
c.4369A>G (p.Ile1457Val)
c.4348A>G (p.Ile1450Val)
n.4643A>G
gnomAD v4 COSMIC COSMIC
6g.157200921A>TCA366241233ARID1Bc.4537A>T (p.Ile1513Phe)
c.4606A>T (p.Ile1536Phe)
c.4825A>T (p.Ile1609Phe)
c.4576A>T (p.Ile1526Phe)
c.4288A>T (p.Ile1430Phe)
c.2854A>T (p.Ile952Phe)
c.2017A>T (p.Ile673Phe)
c.1648A>T (p.Ile550Phe)
n.3159A>T
n.616A>T
c.4696A>T (p.Ile1566Phe)
n.2693A>T
c.2064A>T
c.1978A>T
n.1362A>T
c.2038A>T (p.Ile680Phe)
c.2197A>T (p.Ile733Phe)
c.4327A>T (p.Ile1443Phe)
c.4447A>T (p.Ile1483Phe)
c.3526A>T (p.Ile1176Phe)
c.3346A>T (p.Ile1116Phe)
c.3106A>T (p.Ile1036Phe)
c.2725A>T (p.Ile909Phe)
c.1588A>T (p.Ile530Phe)
c.4657A>T (p.Ile1553Phe)
c.4558A>T (p.Ile1520Phe)
c.4528A>T (p.Ile1510Phe)
c.4498A>T (p.Ile1500Phe)
c.4369A>T (p.Ile1457Phe)
c.4348A>T (p.Ile1450Phe)
n.4643A>T
6g.157200922T>ACA366241234ARID1Bc.4538T>A (p.Ile1513Asn)
c.4607T>A (p.Ile1536Asn)
c.4826T>A (p.Ile1609Asn)
c.4577T>A (p.Ile1526Asn)
c.4289T>A (p.Ile1430Asn)
c.2855T>A (p.Ile952Asn)
c.2018T>A (p.Ile673Asn)
c.1649T>A (p.Ile550Asn)
n.3160T>A
n.617T>A
c.4697T>A (p.Ile1566Asn)
n.2694T>A
c.2065T>A
c.1979T>A
n.1363T>A
c.2039T>A (p.Ile680Asn)
c.2198T>A (p.Ile733Asn)
c.4328T>A (p.Ile1443Asn)
c.4448T>A (p.Ile1483Asn)
c.3527T>A (p.Ile1176Asn)
c.3347T>A (p.Ile1116Asn)
c.3107T>A (p.Ile1036Asn)
c.2726T>A (p.Ile909Asn)
c.1589T>A (p.Ile530Asn)
c.4658T>A (p.Ile1553Asn)
c.4559T>A (p.Ile1520Asn)
c.4529T>A (p.Ile1510Asn)
c.4499T>A (p.Ile1500Asn)
c.4370T>A (p.Ile1457Asn)
c.4349T>A (p.Ile1450Asn)
n.4644T>A
6g.157200922T>CCA366241235ARID1Bc.4538T>C (p.Ile1513Thr)
c.4607T>C (p.Ile1536Thr)
c.4826T>C (p.Ile1609Thr)
c.4577T>C (p.Ile1526Thr)
c.4289T>C (p.Ile1430Thr)
c.2855T>C (p.Ile952Thr)
c.2018T>C (p.Ile673Thr)
c.1649T>C (p.Ile550Thr)
n.3160T>C
n.617T>C
c.4697T>C (p.Ile1566Thr)
n.2694T>C
c.2065T>C
c.1979T>C
n.1363T>C
c.2039T>C (p.Ile680Thr)
c.2198T>C (p.Ile733Thr)
c.4328T>C (p.Ile1443Thr)
c.4448T>C (p.Ile1483Thr)
c.3527T>C (p.Ile1176Thr)
c.3347T>C (p.Ile1116Thr)
c.3107T>C (p.Ile1036Thr)
c.2726T>C (p.Ile909Thr)
c.1589T>C (p.Ile530Thr)
c.4658T>C (p.Ile1553Thr)
c.4559T>C (p.Ile1520Thr)
c.4529T>C (p.Ile1510Thr)
c.4499T>C (p.Ile1500Thr)
c.4370T>C (p.Ile1457Thr)
c.4349T>C (p.Ile1450Thr)
n.4644T>C
gnomAD v4
6g.157200922T>GCA366241236ARID1Bc.4538T>G (p.Ile1513Ser)
c.4607T>G (p.Ile1536Ser)
c.4826T>G (p.Ile1609Ser)
c.4577T>G (p.Ile1526Ser)
c.4289T>G (p.Ile1430Ser)
c.2855T>G (p.Ile952Ser)
c.2018T>G (p.Ile673Ser)
c.1649T>G (p.Ile550Ser)
n.3160T>G
n.617T>G
c.4697T>G (p.Ile1566Ser)
n.2694T>G
c.2065T>G
c.1979T>G
n.1363T>G
c.2039T>G (p.Ile680Ser)
c.2198T>G (p.Ile733Ser)
c.4328T>G (p.Ile1443Ser)
c.4448T>G (p.Ile1483Ser)
c.3527T>G (p.Ile1176Ser)
c.3347T>G (p.Ile1116Ser)
c.3107T>G (p.Ile1036Ser)
c.2726T>G (p.Ile909Ser)
c.1589T>G (p.Ile530Ser)
c.4658T>G (p.Ile1553Ser)
c.4559T>G (p.Ile1520Ser)
c.4529T>G (p.Ile1510Ser)
c.4499T>G (p.Ile1500Ser)
c.4370T>G (p.Ile1457Ser)
c.4349T>G (p.Ile1450Ser)
n.4644T>G
6g.157200922_157200923delCA2695207266ARID1Bc.4538_4539del (p.Ile1513ThrfsTer15)
c.4607_4608del (p.Ile1536ThrfsTer15)
c.4826_4827del (p.Ile1609ThrfsTer15)
c.4577_4578del (p.Ile1526ThrfsTer15)
c.4289_4290del (p.Ile1430ThrfsTer15)
c.2855_2856del (p.Ile952ThrfsTer15)
c.2018_2019del (p.Ile673ThrfsTer15)
c.1649_1650del (p.Ile550ThrfsTer15)
n.3160_3161del
n.617_618del
c.4697_4698del (p.Ile1566ThrfsTer15)
n.2694_2695del
c.2065_2066del
c.1979_1980del
n.1363_1364del
c.2039_2040del (p.Ile680ThrfsTer15)
c.2198_2199del (p.Ile733ThrfsTer15)
c.4328_4329del (p.Ile1443ThrfsTer15)
c.4448_4449del (p.Ile1483ThrfsTer15)
c.3527_3528del (p.Ile1176ThrfsTer15)
c.3347_3348del (p.Ile1116ThrfsTer15)
c.3107_3108del (p.Ile1036ThrfsTer15)
c.2726_2727del (p.Ile909ThrfsTer15)
c.1589_1590del (p.Ile530ThrfsTer15)
c.4658_4659del (p.Ile1553ThrfsTer15)
c.4559_4560del (p.Ile1520ThrfsTer15)
c.4529_4530del (p.Ile1510ThrfsTer15)
c.4499_4500del (p.Ile1500ThrfsTer15)
c.4370_4371del (p.Ile1457ThrfsTer15)
c.4349_4350del (p.Ile1450ThrfsTer15)
n.4644_4645del
6g.157200923C>ACA4067686ARID1Bc.4539C>A (p.Ile1513=)
c.4608C>A (p.Ile1536=)
c.4827C>A (p.Ile1609=)
c.4578C>A (p.Ile1526=)
c.4290C>A (p.Ile1430=)
c.2856C>A (p.Ile952=)
c.2019C>A (p.Ile673=)
c.1650C>A (p.Ile550=)
n.3161C>A
n.618C>A
c.4698C>A (p.Ile1566=)
n.2695C>A
c.2066C>A
c.1980C>A
n.1364C>A
c.2040C>A (p.Ile680=)
c.2199C>A (p.Ile733=)
c.4329C>A (p.Ile1443=)
c.4449C>A (p.Ile1483=)
c.3528C>A (p.Ile1176=)
c.3348C>A (p.Ile1116=)
c.3108C>A (p.Ile1036=)
c.2727C>A (p.Ile909=)
c.1590C>A (p.Ile530=)
c.4659C>A (p.Ile1553=)
c.4560C>A (p.Ile1520=)
c.4530C>A (p.Ile1510=)
c.4500C>A (p.Ile1500=)
c.4371C>A (p.Ile1457=)
c.4350C>A (p.Ile1450=)
n.4645C>A
dbSNP ExAC gnomAD v2 gnomAD v4
6g.157200923C=CA1675543147ARID1Bc.4539C= (p.Ile1513=)
c.4608C= (p.Ile1536=)
c.4827C= (p.Ile1609=)
c.4578C= (p.Ile1526=)
c.4290C= (p.Ile1430=)
c.2856C= (p.Ile952=)
c.2019C= (p.Ile673=)
c.1650C= (p.Ile550=)
n.3161C=
n.618C=
c.4698C= (p.Ile1566=)
n.2695C=
c.2066C=
c.1980C=
n.1364C=
c.2040C= (p.Ile680=)
c.2199C= (p.Ile733=)
c.4329C= (p.Ile1443=)
c.4449C= (p.Ile1483=)
c.3528C= (p.Ile1176=)
c.3348C= (p.Ile1116=)
c.3108C= (p.Ile1036=)
c.2727C= (p.Ile909=)
c.1590C= (p.Ile530=)
c.4659C= (p.Ile1553=)
c.4560C= (p.Ile1520=)
c.4530C= (p.Ile1510=)
c.4500C= (p.Ile1500=)
c.4371C= (p.Ile1457=)
c.4350C= (p.Ile1450=)
n.4645C=
6g.157200923C>GCA366241237ARID1Bc.4539C>G (p.Ile1513Met)
c.4608C>G (p.Ile1536Met)
c.4827C>G (p.Ile1609Met)
c.4578C>G (p.Ile1526Met)
c.4290C>G (p.Ile1430Met)
c.2856C>G (p.Ile952Met)
c.2019C>G (p.Ile673Met)
c.1650C>G (p.Ile550Met)
n.3161C>G
n.618C>G
c.4698C>G (p.Ile1566Met)
n.2695C>G
c.2066C>G
c.1980C>G
n.1364C>G
c.2040C>G (p.Ile680Met)
c.2199C>G (p.Ile733Met)
c.4329C>G (p.Ile1443Met)
c.4449C>G (p.Ile1483Met)
c.3528C>G (p.Ile1176Met)
c.3348C>G (p.Ile1116Met)
c.3108C>G (p.Ile1036Met)
c.2727C>G (p.Ile909Met)
c.1590C>G (p.Ile530Met)
c.4659C>G (p.Ile1553Met)
c.4560C>G (p.Ile1520Met)
c.4530C>G (p.Ile1510Met)
c.4500C>G (p.Ile1500Met)
c.4371C>G (p.Ile1457Met)
c.4350C>G (p.Ile1450Met)
n.4645C>G
6g.157200923C>TCA452978007ARID1Bc.4539C>T (p.Ile1513=)
c.4608C>T (p.Ile1536=)
c.4827C>T (p.Ile1609=)
c.4578C>T (p.Ile1526=)
c.4290C>T (p.Ile1430=)
c.2856C>T (p.Ile952=)
c.2019C>T (p.Ile673=)
c.1650C>T (p.Ile550=)
n.3161C>T
n.618C>T
c.4698C>T (p.Ile1566=)
n.2695C>T
c.2066C>T
c.1980C>T
n.1364C>T
c.2040C>T (p.Ile680=)
c.2199C>T (p.Ile733=)
c.4329C>T (p.Ile1443=)
c.4449C>T (p.Ile1483=)
c.3528C>T (p.Ile1176=)
c.3348C>T (p.Ile1116=)
c.3108C>T (p.Ile1036=)
c.2727C>T (p.Ile909=)
c.1590C>T (p.Ile530=)
c.4659C>T (p.Ile1553=)
c.4560C>T (p.Ile1520=)
c.4530C>T (p.Ile1510=)
c.4500C>T (p.Ile1500=)
c.4371C>T (p.Ile1457=)
c.4350C>T (p.Ile1450=)
n.4645C>T
6g.157200924C>ACA366241238ARID1Bc.4540C>A (p.Pro1514Thr)
c.4609C>A (p.Pro1537Thr)
c.4828C>A (p.Pro1610Thr)
c.4579C>A (p.Pro1527Thr)
c.4291C>A (p.Pro1431Thr)
c.2857C>A (p.Pro953Thr)
c.2020C>A (p.Pro674Thr)
c.1651C>A (p.Pro551Thr)
n.3162C>A
n.619C>A
c.4699C>A (p.Pro1567Thr)
n.2696C>A
c.2067C>A
c.1981C>A
n.1365C>A
c.2041C>A (p.Pro681Thr)
c.2200C>A (p.Pro734Thr)
c.4330C>A (p.Pro1444Thr)
c.4450C>A (p.Pro1484Thr)
c.3529C>A (p.Pro1177Thr)
c.3349C>A (p.Pro1117Thr)
c.3109C>A (p.Pro1037Thr)
c.2728C>A (p.Pro910Thr)
c.1591C>A (p.Pro531Thr)
c.4660C>A (p.Pro1554Thr)
c.4561C>A (p.Pro1521Thr)
c.4531C>A (p.Pro1511Thr)
c.4501C>A (p.Pro1501Thr)
c.4372C>A (p.Pro1458Thr)
c.4351C>A (p.Pro1451Thr)
n.4646C>A
6g.157200924C>GCA366241240ARID1Bc.4540C>G (p.Pro1514Ala)
c.4609C>G (p.Pro1537Ala)
c.4828C>G (p.Pro1610Ala)
c.4579C>G (p.Pro1527Ala)
c.4291C>G (p.Pro1431Ala)
c.2857C>G (p.Pro953Ala)
c.2020C>G (p.Pro674Ala)
c.1651C>G (p.Pro551Ala)
n.3162C>G
n.619C>G
c.4699C>G (p.Pro1567Ala)
n.2696C>G
c.2067C>G
c.1981C>G
n.1365C>G
c.2041C>G (p.Pro681Ala)
c.2200C>G (p.Pro734Ala)
c.4330C>G (p.Pro1444Ala)
c.4450C>G (p.Pro1484Ala)
c.3529C>G (p.Pro1177Ala)
c.3349C>G (p.Pro1117Ala)
c.3109C>G (p.Pro1037Ala)
c.2728C>G (p.Pro910Ala)
c.1591C>G (p.Pro531Ala)
c.4660C>G (p.Pro1554Ala)
c.4561C>G (p.Pro1521Ala)
c.4531C>G (p.Pro1511Ala)
c.4501C>G (p.Pro1501Ala)
c.4372C>G (p.Pro1458Ala)
c.4351C>G (p.Pro1451Ala)
n.4646C>G
6g.157200924C>TCA366241239ARID1Bc.4540C>T (p.Pro1514Ser)
c.4609C>T (p.Pro1537Ser)
c.4828C>T (p.Pro1610Ser)
c.4579C>T (p.Pro1527Ser)
c.4291C>T (p.Pro1431Ser)
c.2857C>T (p.Pro953Ser)
c.2020C>T (p.Pro674Ser)
c.1651C>T (p.Pro551Ser)
n.3162C>T
n.619C>T
c.4699C>T (p.Pro1567Ser)
n.2696C>T
c.2067C>T
c.1981C>T
n.1365C>T
c.2041C>T (p.Pro681Ser)
c.2200C>T (p.Pro734Ser)
c.4330C>T (p.Pro1444Ser)
c.4450C>T (p.Pro1484Ser)
c.3529C>T (p.Pro1177Ser)
c.3349C>T (p.Pro1117Ser)
c.3109C>T (p.Pro1037Ser)
c.2728C>T (p.Pro910Ser)
c.1591C>T (p.Pro531Ser)
c.4660C>T (p.Pro1554Ser)
c.4561C>T (p.Pro1521Ser)
c.4531C>T (p.Pro1511Ser)
c.4501C>T (p.Pro1501Ser)
c.4372C>T (p.Pro1458Ser)
c.4351C>T (p.Pro1451Ser)
n.4646C>T
gnomAD v4
6g.157200925C>ACA366241241ARID1Bc.4541C>A (p.Pro1514Gln)
c.4610C>A (p.Pro1537Gln)
c.4829C>A (p.Pro1610Gln)
c.4580C>A (p.Pro1527Gln)
c.4292C>A (p.Pro1431Gln)
c.2858C>A (p.Pro953Gln)
c.2021C>A (p.Pro674Gln)
c.1652C>A (p.Pro551Gln)
n.3163C>A
n.620C>A
c.4700C>A (p.Pro1567Gln)
n.2697C>A
c.2068C>A
c.1982C>A
n.1366C>A
c.2042C>A (p.Pro681Gln)
c.2201C>A (p.Pro734Gln)
c.4331C>A (p.Pro1444Gln)
c.4451C>A (p.Pro1484Gln)
c.3530C>A (p.Pro1177Gln)
c.3350C>A (p.Pro1117Gln)
c.3110C>A (p.Pro1037Gln)
c.2729C>A (p.Pro910Gln)
c.1592C>A (p.Pro531Gln)
c.4661C>A (p.Pro1554Gln)
c.4562C>A (p.Pro1521Gln)
c.4532C>A (p.Pro1511Gln)
c.4502C>A (p.Pro1501Gln)
c.4373C>A (p.Pro1458Gln)
c.4352C>A (p.Pro1451Gln)
n.4647C>A
dbSNP gnomAD v4
6g.157200925C=CA1675543148ARID1Bc.4541C= (p.Pro1514=)
c.4610C= (p.Pro1537=)
c.4829C= (p.Pro1610=)
c.4580C= (p.Pro1527=)
c.4292C= (p.Pro1431=)
c.2858C= (p.Pro953=)
c.2021C= (p.Pro674=)
c.1652C= (p.Pro551=)
n.3163C=
n.620C=
c.4700C= (p.Pro1567=)
n.2697C=
c.2068C=
c.1982C=
n.1366C=
c.2042C= (p.Pro681=)
c.2201C= (p.Pro734=)
c.4331C= (p.Pro1444=)
c.4451C= (p.Pro1484=)
c.3530C= (p.Pro1177=)
c.3350C= (p.Pro1117=)
c.3110C= (p.Pro1037=)
c.2729C= (p.Pro910=)
c.1592C= (p.Pro531=)
c.4661C= (p.Pro1554=)
c.4562C= (p.Pro1521=)
c.4532C= (p.Pro1511=)
c.4502C= (p.Pro1501=)
c.4373C= (p.Pro1458=)
c.4352C= (p.Pro1451=)
n.4647C=
6g.157200925C>GCA366241242ARID1Bc.4541C>G (p.Pro1514Arg)
c.4610C>G (p.Pro1537Arg)
c.4829C>G (p.Pro1610Arg)
c.4580C>G (p.Pro1527Arg)
c.4292C>G (p.Pro1431Arg)
c.2858C>G (p.Pro953Arg)
c.2021C>G (p.Pro674Arg)
c.1652C>G (p.Pro551Arg)
n.3163C>G
n.620C>G
c.4700C>G (p.Pro1567Arg)
n.2697C>G
c.2068C>G
c.1982C>G
n.1366C>G
c.2042C>G (p.Pro681Arg)
c.2201C>G (p.Pro734Arg)
c.4331C>G (p.Pro1444Arg)
c.4451C>G (p.Pro1484Arg)
c.3530C>G (p.Pro1177Arg)
c.3350C>G (p.Pro1117Arg)
c.3110C>G (p.Pro1037Arg)
c.2729C>G (p.Pro910Arg)
c.1592C>G (p.Pro531Arg)
c.4661C>G (p.Pro1554Arg)
c.4562C>G (p.Pro1521Arg)
c.4532C>G (p.Pro1511Arg)
c.4502C>G (p.Pro1501Arg)
c.4373C>G (p.Pro1458Arg)
c.4352C>G (p.Pro1451Arg)
n.4647C>G
dbSNP
6g.157200925C>TCA4067687ARID1Bc.4541C>T (p.Pro1514Leu)
c.4610C>T (p.Pro1537Leu)
c.4829C>T (p.Pro1610Leu)
c.4580C>T (p.Pro1527Leu)
c.4292C>T (p.Pro1431Leu)
c.2858C>T (p.Pro953Leu)
c.2021C>T (p.Pro674Leu)
c.1652C>T (p.Pro551Leu)
n.3163C>T
n.620C>T
c.4700C>T (p.Pro1567Leu)
n.2697C>T
c.2068C>T
c.1982C>T
n.1366C>T
c.2042C>T (p.Pro681Leu)
c.2201C>T (p.Pro734Leu)
c.4331C>T (p.Pro1444Leu)
c.4451C>T (p.Pro1484Leu)
c.3530C>T (p.Pro1177Leu)
c.3350C>T (p.Pro1117Leu)
c.3110C>T (p.Pro1037Leu)
c.2729C>T (p.Pro910Leu)
c.1592C>T (p.Pro531Leu)
c.4661C>T (p.Pro1554Leu)
c.4562C>T (p.Pro1521Leu)
c.4532C>T (p.Pro1511Leu)
c.4502C>T (p.Pro1501Leu)
c.4373C>T (p.Pro1458Leu)
c.4352C>T (p.Pro1451Leu)
n.4647C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.157200926G>ACA4067688ARID1Bc.4542G>A (p.Pro1514=)
c.4611G>A (p.Pro1537=)
c.4830G>A (p.Pro1610=)
c.4581G>A (p.Pro1527=)
c.4293G>A (p.Pro1431=)
c.2859G>A (p.Pro953=)
c.2022G>A (p.Pro674=)
c.1653G>A (p.Pro551=)
n.3164G>A
n.621G>A
c.4701G>A (p.Pro1567=)
n.2698G>A
c.2069G>A
c.1983G>A
n.1367G>A
c.2043G>A (p.Pro681=)
c.2202G>A (p.Pro734=)
c.4332G>A (p.Pro1444=)
c.4452G>A (p.Pro1484=)
c.3531G>A (p.Pro1177=)
c.3351G>A (p.Pro1117=)
c.3111G>A (p.Pro1037=)
c.2730G>A (p.Pro910=)
c.1593G>A (p.Pro531=)
c.4662G>A (p.Pro1554=)
c.4563G>A (p.Pro1521=)
c.4533G>A (p.Pro1511=)
c.4503G>A (p.Pro1501=)
c.4374G>A (p.Pro1458=)
c.4353G>A (p.Pro1451=)
n.4648G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.157200926G>CCA452978010ARID1Bc.4542G>C (p.Pro1514=)
c.4611G>C (p.Pro1537=)
c.4830G>C (p.Pro1610=)
c.4581G>C (p.Pro1527=)
c.4293G>C (p.Pro1431=)
c.2859G>C (p.Pro953=)
c.2022G>C (p.Pro674=)
c.1653G>C (p.Pro551=)
n.3164G>C
n.621G>C
c.4701G>C (p.Pro1567=)
n.2698G>C
c.2069G>C
c.1983G>C
n.1367G>C
c.2043G>C (p.Pro681=)
c.2202G>C (p.Pro734=)
c.4332G>C (p.Pro1444=)
c.4452G>C (p.Pro1484=)
c.3531G>C (p.Pro1177=)
c.3351G>C (p.Pro1117=)
c.3111G>C (p.Pro1037=)
c.2730G>C (p.Pro910=)
c.1593G>C (p.Pro531=)
c.4662G>C (p.Pro1554=)
c.4563G>C (p.Pro1521=)
c.4533G>C (p.Pro1511=)
c.4503G>C (p.Pro1501=)
c.4374G>C (p.Pro1458=)
c.4353G>C (p.Pro1451=)
n.4648G>C
dbSNP
6g.157200926G=CA1675543149ARID1Bc.4542G= (p.Pro1514=)
c.4611G= (p.Pro1537=)
c.4830G= (p.Pro1610=)
c.4581G= (p.Pro1527=)
c.4293G= (p.Pro1431=)
c.2859G= (p.Pro953=)
c.2022G= (p.Pro674=)
c.1653G= (p.Pro551=)
n.3164G=
n.621G=
c.4701G= (p.Pro1567=)
n.2698G=
c.2069G=
c.1983G=
n.1367G=
c.2043G= (p.Pro681=)
c.2202G= (p.Pro734=)
c.4332G= (p.Pro1444=)
c.4452G= (p.Pro1484=)
c.3531G= (p.Pro1177=)
c.3351G= (p.Pro1117=)
c.3111G= (p.Pro1037=)
c.2730G= (p.Pro910=)
c.1593G= (p.Pro531=)
c.4662G= (p.Pro1554=)
c.4563G= (p.Pro1521=)
c.4533G= (p.Pro1511=)
c.4503G= (p.Pro1501=)
c.4374G= (p.Pro1458=)
c.4353G= (p.Pro1451=)
n.4648G=
6g.157200926G>TCA452978011ARID1Bc.4542G>T (p.Pro1514=)
c.4611G>T (p.Pro1537=)
c.4830G>T (p.Pro1610=)
c.4581G>T (p.Pro1527=)
c.4293G>T (p.Pro1431=)
c.2859G>T (p.Pro953=)
c.2022G>T (p.Pro674=)
c.1653G>T (p.Pro551=)
n.3164G>T
n.621G>T
c.4701G>T (p.Pro1567=)
n.2698G>T
c.2069G>T
c.1983G>T
n.1367G>T
c.2043G>T (p.Pro681=)
c.2202G>T (p.Pro734=)
c.4332G>T (p.Pro1444=)
c.4452G>T (p.Pro1484=)
c.3531G>T (p.Pro1177=)
c.3351G>T (p.Pro1117=)
c.3111G>T (p.Pro1037=)
c.2730G>T (p.Pro910=)
c.1593G>T (p.Pro531=)
c.4662G>T (p.Pro1554=)
c.4563G>T (p.Pro1521=)
c.4533G>T (p.Pro1511=)
c.4503G>T (p.Pro1501=)
c.4374G>T (p.Pro1458=)
c.4353G>T (p.Pro1451=)
n.4648G>T
6g.157200927C>ACA366241243ARID1Bc.4543C>A (p.Pro1515Thr)
c.4612C>A (p.Pro1538Thr)
c.4831C>A (p.Pro1611Thr)
c.4582C>A (p.Pro1528Thr)
c.4294C>A (p.Pro1432Thr)
c.2860C>A (p.Pro954Thr)
c.2023C>A (p.Pro675Thr)
c.1654C>A (p.Pro552Thr)
n.3165C>A
n.622C>A
c.4702C>A (p.Pro1568Thr)
n.2699C>A
c.2070C>A
c.1984C>A
n.1368C>A
c.2044C>A (p.Pro682Thr)
c.2203C>A (p.Pro735Thr)
c.4333C>A (p.Pro1445Thr)
c.4453C>A (p.Pro1485Thr)
c.3532C>A (p.Pro1178Thr)
c.3352C>A (p.Pro1118Thr)
c.3112C>A (p.Pro1038Thr)
c.2731C>A (p.Pro911Thr)
c.1594C>A (p.Pro532Thr)
c.4663C>A (p.Pro1555Thr)
c.4564C>A (p.Pro1522Thr)
c.4534C>A (p.Pro1512Thr)
c.4504C>A (p.Pro1502Thr)
c.4375C>A (p.Pro1459Thr)
c.4354C>A (p.Pro1452Thr)
n.4649C>A
6g.157200927C>GCA366241245ARID1Bc.4543C>G (p.Pro1515Ala)
c.4612C>G (p.Pro1538Ala)
c.4831C>G (p.Pro1611Ala)
c.4582C>G (p.Pro1528Ala)
c.4294C>G (p.Pro1432Ala)
c.2860C>G (p.Pro954Ala)
c.2023C>G (p.Pro675Ala)
c.1654C>G (p.Pro552Ala)
n.3165C>G
n.622C>G
c.4702C>G (p.Pro1568Ala)
n.2699C>G
c.2070C>G
c.1984C>G
n.1368C>G
c.2044C>G (p.Pro682Ala)
c.2203C>G (p.Pro735Ala)
c.4333C>G (p.Pro1445Ala)
c.4453C>G (p.Pro1485Ala)
c.3532C>G (p.Pro1178Ala)
c.3352C>G (p.Pro1118Ala)
c.3112C>G (p.Pro1038Ala)
c.2731C>G (p.Pro911Ala)
c.1594C>G (p.Pro532Ala)
c.4663C>G (p.Pro1555Ala)
c.4564C>G (p.Pro1522Ala)
c.4534C>G (p.Pro1512Ala)
c.4504C>G (p.Pro1502Ala)
c.4375C>G (p.Pro1459Ala)
c.4354C>G (p.Pro1452Ala)
n.4649C>G
6g.157200927C>TCA366241244ARID1Bc.4543C>T (p.Pro1515Ser)
c.4612C>T (p.Pro1538Ser)
c.4831C>T (p.Pro1611Ser)
c.4582C>T (p.Pro1528Ser)
c.4294C>T (p.Pro1432Ser)
c.2860C>T (p.Pro954Ser)
c.2023C>T (p.Pro675Ser)
c.1654C>T (p.Pro552Ser)
n.3165C>T
n.622C>T
c.4702C>T (p.Pro1568Ser)
n.2699C>T
c.2070C>T
c.1984C>T
n.1368C>T
c.2044C>T (p.Pro682Ser)
c.2203C>T (p.Pro735Ser)
c.4333C>T (p.Pro1445Ser)
c.4453C>T (p.Pro1485Ser)
c.3532C>T (p.Pro1178Ser)
c.3352C>T (p.Pro1118Ser)
c.3112C>T (p.Pro1038Ser)
c.2731C>T (p.Pro911Ser)
c.1594C>T (p.Pro532Ser)
c.4663C>T (p.Pro1555Ser)
c.4564C>T (p.Pro1522Ser)
c.4534C>T (p.Pro1512Ser)
c.4504C>T (p.Pro1502Ser)
c.4375C>T (p.Pro1459Ser)
c.4354C>T (p.Pro1452Ser)
n.4649C>T
dbSNP
6g.157200928C>ACA366241246ARID1Bc.4544C>A (p.Pro1515His)
c.4613C>A (p.Pro1538His)
c.4832C>A (p.Pro1611His)
c.4583C>A (p.Pro1528His)
c.4295C>A (p.Pro1432His)
c.2861C>A (p.Pro954His)
c.2024C>A (p.Pro675His)
c.1655C>A (p.Pro552His)
n.3166C>A
n.623C>A
c.4703C>A (p.Pro1568His)
n.2700C>A
c.2071C>A
c.1985C>A
n.1369C>A
c.2045C>A (p.Pro682His)
c.2204C>A (p.Pro735His)
c.4334C>A (p.Pro1445His)
c.4454C>A (p.Pro1485His)
c.3533C>A (p.Pro1178His)
c.3353C>A (p.Pro1118His)
c.3113C>A (p.Pro1038His)
c.2732C>A (p.Pro911His)
c.1595C>A (p.Pro532His)
c.4664C>A (p.Pro1555His)
c.4565C>A (p.Pro1522His)
c.4535C>A (p.Pro1512His)
c.4505C>A (p.Pro1502His)
c.4376C>A (p.Pro1459His)
c.4355C>A (p.Pro1452His)
n.4650C>A
6g.157200928C>GCA366241247ARID1Bc.4544C>G (p.Pro1515Arg)
c.4613C>G (p.Pro1538Arg)
c.4832C>G (p.Pro1611Arg)
c.4583C>G (p.Pro1528Arg)
c.4295C>G (p.Pro1432Arg)
c.2861C>G (p.Pro954Arg)
c.2024C>G (p.Pro675Arg)
c.1655C>G (p.Pro552Arg)
n.3166C>G
n.623C>G
c.4703C>G (p.Pro1568Arg)
n.2700C>G
c.2071C>G
c.1985C>G
n.1369C>G
c.2045C>G (p.Pro682Arg)
c.2204C>G (p.Pro735Arg)
c.4334C>G (p.Pro1445Arg)
c.4454C>G (p.Pro1485Arg)
c.3533C>G (p.Pro1178Arg)
c.3353C>G (p.Pro1118Arg)
c.3113C>G (p.Pro1038Arg)
c.2732C>G (p.Pro911Arg)
c.1595C>G (p.Pro532Arg)
c.4664C>G (p.Pro1555Arg)
c.4565C>G (p.Pro1522Arg)
c.4535C>G (p.Pro1512Arg)
c.4505C>G (p.Pro1502Arg)
c.4376C>G (p.Pro1459Arg)
c.4355C>G (p.Pro1452Arg)
n.4650C>G
6g.157200928C>TCA366241248ARID1Bc.4544C>T (p.Pro1515Leu)
c.4613C>T (p.Pro1538Leu)
c.4832C>T (p.Pro1611Leu)
c.4583C>T (p.Pro1528Leu)
c.4295C>T (p.Pro1432Leu)
c.2861C>T (p.Pro954Leu)
c.2024C>T (p.Pro675Leu)
c.1655C>T (p.Pro552Leu)
n.3166C>T
n.623C>T
c.4703C>T (p.Pro1568Leu)
n.2700C>T
c.2071C>T
c.1985C>T
n.1369C>T
c.2045C>T (p.Pro682Leu)
c.2204C>T (p.Pro735Leu)
c.4334C>T (p.Pro1445Leu)
c.4454C>T (p.Pro1485Leu)
c.3533C>T (p.Pro1178Leu)
c.3353C>T (p.Pro1118Leu)
c.3113C>T (p.Pro1038Leu)
c.2732C>T (p.Pro911Leu)
c.1595C>T (p.Pro532Leu)
c.4664C>T (p.Pro1555Leu)
c.4565C>T (p.Pro1522Leu)
c.4535C>T (p.Pro1512Leu)
c.4505C>T (p.Pro1502Leu)
c.4376C>T (p.Pro1459Leu)
c.4355C>T (p.Pro1452Leu)
n.4650C>T
6g.157200929T>ACA452978015ARID1Bc.4545T>A (p.Pro1515=)
c.4614T>A (p.Pro1538=)
c.4833T>A (p.Pro1611=)
c.4584T>A (p.Pro1528=)
c.4296T>A (p.Pro1432=)
c.2862T>A (p.Pro954=)
c.2025T>A (p.Pro675=)
c.1656T>A (p.Pro552=)
n.3167T>A
n.624T>A
c.4704T>A (p.Pro1568=)
n.2701T>A
c.2072T>A
c.1986T>A
n.1370T>A
c.2046T>A (p.Pro682=)
c.2205T>A (p.Pro735=)
c.4335T>A (p.Pro1445=)
c.4455T>A (p.Pro1485=)
c.3534T>A (p.Pro1178=)
c.3354T>A (p.Pro1118=)
c.3114T>A (p.Pro1038=)
c.2733T>A (p.Pro911=)
c.1596T>A (p.Pro532=)
c.4665T>A (p.Pro1555=)
c.4566T>A (p.Pro1522=)
c.4536T>A (p.Pro1512=)
c.4506T>A (p.Pro1502=)
c.4377T>A (p.Pro1459=)
c.4356T>A (p.Pro1452=)
n.4651T>A
6g.157200929T>CCA452978016ARID1Bc.4545T>C (p.Pro1515=)
c.4614T>C (p.Pro1538=)
c.4833T>C (p.Pro1611=)
c.4584T>C (p.Pro1528=)
c.4296T>C (p.Pro1432=)
c.2862T>C (p.Pro954=)
c.2025T>C (p.Pro675=)
c.1656T>C (p.Pro552=)
n.3167T>C
n.624T>C
c.4704T>C (p.Pro1568=)
n.2701T>C
c.2072T>C
c.1986T>C
n.1370T>C
c.2046T>C (p.Pro682=)
c.2205T>C (p.Pro735=)
c.4335T>C (p.Pro1445=)
c.4455T>C (p.Pro1485=)
c.3534T>C (p.Pro1178=)
c.3354T>C (p.Pro1118=)
c.3114T>C (p.Pro1038=)
c.2733T>C (p.Pro911=)
c.1596T>C (p.Pro532=)
c.4665T>C (p.Pro1555=)
c.4566T>C (p.Pro1522=)
c.4536T>C (p.Pro1512=)
c.4506T>C (p.Pro1502=)
c.4377T>C (p.Pro1459=)
c.4356T>C (p.Pro1452=)
n.4651T>C
6g.157200929T>GCA452978017ARID1Bc.4545T>G (p.Pro1515=)
c.4614T>G (p.Pro1538=)
c.4833T>G (p.Pro1611=)
c.4584T>G (p.Pro1528=)
c.4296T>G (p.Pro1432=)
c.2862T>G (p.Pro954=)
c.2025T>G (p.Pro675=)
c.1656T>G (p.Pro552=)
n.3167T>G
n.624T>G
c.4704T>G (p.Pro1568=)
n.2701T>G
c.2072T>G
c.1986T>G
n.1370T>G
c.2046T>G (p.Pro682=)
c.2205T>G (p.Pro735=)
c.4335T>G (p.Pro1445=)
c.4455T>G (p.Pro1485=)
c.3534T>G (p.Pro1178=)
c.3354T>G (p.Pro1118=)
c.3114T>G (p.Pro1038=)
c.2733T>G (p.Pro911=)
c.1596T>G (p.Pro532=)
c.4665T>G (p.Pro1555=)
c.4566T>G (p.Pro1522=)
c.4536T>G (p.Pro1512=)
c.4506T>G (p.Pro1502=)
c.4377T>G (p.Pro1459=)
c.4356T>G (p.Pro1452=)
n.4651T>G
6g.157200930C>ACA366241249ARID1Bc.4546C>A (p.Gln1516Lys)
c.4615C>A (p.Gln1539Lys)
c.4834C>A (p.Gln1612Lys)
c.4585C>A (p.Gln1529Lys)
c.4297C>A (p.Gln1433Lys)
c.2863C>A (p.Gln955Lys)
c.2026C>A (p.Gln676Lys)
c.1657C>A (p.Gln553Lys)
n.3168C>A
n.625C>A
c.4705C>A (p.Gln1569Lys)
n.2702C>A
c.2073C>A
c.1987C>A
n.1371C>A
c.2047C>A (p.Gln683Lys)
c.2206C>A (p.Gln736Lys)
c.4336C>A (p.Gln1446Lys)
c.4456C>A (p.Gln1486Lys)
c.3535C>A (p.Gln1179Lys)
c.3355C>A (p.Gln1119Lys)
c.3115C>A (p.Gln1039Lys)
c.2734C>A (p.Gln912Lys)
c.1597C>A (p.Gln533Lys)
c.4666C>A (p.Gln1556Lys)
c.4567C>A (p.Gln1523Lys)
c.4537C>A (p.Gln1513Lys)
c.4507C>A (p.Gln1503Lys)
c.4378C>A (p.Gln1460Lys)
c.4357C>A (p.Gln1453Lys)
n.4652C>A
6g.157200930C=CA1675543150ARID1Bc.4546C= (p.Gln1516=)
c.4615C= (p.Gln1539=)
c.4834C= (p.Gln1612=)
c.4585C= (p.Gln1529=)
c.4297C= (p.Gln1433=)
c.2863C= (p.Gln955=)
c.2026C= (p.Gln676=)
c.1657C= (p.Gln553=)
n.3168C=
n.625C=
c.4705C= (p.Gln1569=)
n.2702C=
c.2073C=
c.1987C=
n.1371C=
c.2047C= (p.Gln683=)
c.2206C= (p.Gln736=)
c.4336C= (p.Gln1446=)
c.4456C= (p.Gln1486=)
c.3535C= (p.Gln1179=)
c.3355C= (p.Gln1119=)
c.3115C= (p.Gln1039=)
c.2734C= (p.Gln912=)
c.1597C= (p.Gln533=)
c.4666C= (p.Gln1556=)
c.4567C= (p.Gln1523=)
c.4537C= (p.Gln1513=)
c.4507C= (p.Gln1503=)
c.4378C= (p.Gln1460=)
c.4357C= (p.Gln1453=)
n.4652C=
6g.157200930C>GCA366241250ARID1Bc.4546C>G (p.Gln1516Glu)
c.4615C>G (p.Gln1539Glu)
c.4834C>G (p.Gln1612Glu)
c.4585C>G (p.Gln1529Glu)
c.4297C>G (p.Gln1433Glu)
c.2863C>G (p.Gln955Glu)
c.2026C>G (p.Gln676Glu)
c.1657C>G (p.Gln553Glu)
n.3168C>G
n.625C>G
c.4705C>G (p.Gln1569Glu)
n.2702C>G
c.2073C>G
c.1987C>G
n.1371C>G
c.2047C>G (p.Gln683Glu)
c.2206C>G (p.Gln736Glu)
c.4336C>G (p.Gln1446Glu)
c.4456C>G (p.Gln1486Glu)
c.3535C>G (p.Gln1179Glu)
c.3355C>G (p.Gln1119Glu)
c.3115C>G (p.Gln1039Glu)
c.2734C>G (p.Gln912Glu)
c.1597C>G (p.Gln533Glu)
c.4666C>G (p.Gln1556Glu)
c.4567C>G (p.Gln1523Glu)
c.4537C>G (p.Gln1513Glu)
c.4507C>G (p.Gln1503Glu)
c.4378C>G (p.Gln1460Glu)
c.4357C>G (p.Gln1453Glu)
n.4652C>G
6g.157200930C>TCA206215ARID1Bc.4546C>T (p.Gln1516Ter)
c.4615C>T (p.Gln1539Ter)
c.4834C>T (p.Gln1612Ter)
c.4585C>T (p.Gln1529Ter)
c.4297C>T (p.Gln1433Ter)
c.2863C>T (p.Gln955Ter)
c.2026C>T (p.Gln676Ter)
c.1657C>T (p.Gln553Ter)
n.3168C>T
n.625C>T
c.4705C>T (p.Gln1569Ter)
n.2702C>T
c.2073C>T
c.1987C>T
n.1371C>T
c.2047C>T (p.Gln683Ter)
c.2206C>T (p.Gln736Ter)
c.4336C>T (p.Gln1446Ter)
c.4456C>T (p.Gln1486Ter)
c.3535C>T (p.Gln1179Ter)
c.3355C>T (p.Gln1119Ter)
c.3115C>T (p.Gln1039Ter)
c.2734C>T (p.Gln912Ter)
c.1597C>T (p.Gln533Ter)
c.4666C>T (p.Gln1556Ter)
c.4567C>T (p.Gln1523Ter)
c.4537C>T (p.Gln1513Ter)
c.4507C>T (p.Gln1503Ter)
c.4378C>T (p.Gln1460Ter)
c.4357C>T (p.Gln1453Ter)
n.4652C>T
ClinVar dbSNP
6g.157200931A>CCA366241251ARID1Bc.4547A>C (p.Gln1516Pro)
c.4616A>C (p.Gln1539Pro)
c.4835A>C (p.Gln1612Pro)
c.4586A>C (p.Gln1529Pro)
c.4298A>C (p.Gln1433Pro)
c.2864A>C (p.Gln955Pro)
c.2027A>C (p.Gln676Pro)
c.1658A>C (p.Gln553Pro)
n.3169A>C
n.626A>C
c.4706A>C (p.Gln1569Pro)
n.2703A>C
c.2074A>C
c.1988A>C
n.1372A>C
c.2048A>C (p.Gln683Pro)
c.2207A>C (p.Gln736Pro)
c.4337A>C (p.Gln1446Pro)
c.4457A>C (p.Gln1486Pro)
c.3536A>C (p.Gln1179Pro)
c.3356A>C (p.Gln1119Pro)
c.3116A>C (p.Gln1039Pro)
c.2735A>C (p.Gln912Pro)
c.1598A>C (p.Gln533Pro)
c.4667A>C (p.Gln1556Pro)
c.4568A>C (p.Gln1523Pro)
c.4538A>C (p.Gln1513Pro)
c.4508A>C (p.Gln1503Pro)
c.4379A>C (p.Gln1460Pro)
c.4358A>C (p.Gln1453Pro)
n.4653A>C
6g.157200931A>GCA366241252ARID1Bc.4547A>G (p.Gln1516Arg)
c.4616A>G (p.Gln1539Arg)
c.4835A>G (p.Gln1612Arg)
c.4586A>G (p.Gln1529Arg)
c.4298A>G (p.Gln1433Arg)
c.2864A>G (p.Gln955Arg)
c.2027A>G (p.Gln676Arg)
c.1658A>G (p.Gln553Arg)
n.3169A>G
n.626A>G
c.4706A>G (p.Gln1569Arg)
n.2703A>G
c.2074A>G
c.1988A>G
n.1372A>G
c.2048A>G (p.Gln683Arg)
c.2207A>G (p.Gln736Arg)
c.4337A>G (p.Gln1446Arg)
c.4457A>G (p.Gln1486Arg)
c.3536A>G (p.Gln1179Arg)
c.3356A>G (p.Gln1119Arg)
c.3116A>G (p.Gln1039Arg)
c.2735A>G (p.Gln912Arg)
c.1598A>G (p.Gln533Arg)
c.4667A>G (p.Gln1556Arg)
c.4568A>G (p.Gln1523Arg)
c.4538A>G (p.Gln1513Arg)
c.4508A>G (p.Gln1503Arg)
c.4379A>G (p.Gln1460Arg)
c.4358A>G (p.Gln1453Arg)
n.4653A>G
dbSNP
6g.157200931A>TCA366241253ARID1Bc.4547A>T (p.Gln1516Leu)
c.4616A>T (p.Gln1539Leu)
c.4835A>T (p.Gln1612Leu)
c.4586A>T (p.Gln1529Leu)
c.4298A>T (p.Gln1433Leu)
c.2864A>T (p.Gln955Leu)
c.2027A>T (p.Gln676Leu)
c.1658A>T (p.Gln553Leu)
n.3169A>T
n.626A>T
c.4706A>T (p.Gln1569Leu)
n.2703A>T
c.2074A>T
c.1988A>T
n.1372A>T
c.2048A>T (p.Gln683Leu)
c.2207A>T (p.Gln736Leu)
c.4337A>T (p.Gln1446Leu)
c.4457A>T (p.Gln1486Leu)
c.3536A>T (p.Gln1179Leu)
c.3356A>T (p.Gln1119Leu)
c.3116A>T (p.Gln1039Leu)
c.2735A>T (p.Gln912Leu)
c.1598A>T (p.Gln533Leu)
c.4667A>T (p.Gln1556Leu)
c.4568A>T (p.Gln1523Leu)
c.4538A>T (p.Gln1513Leu)
c.4508A>T (p.Gln1503Leu)
c.4379A>T (p.Gln1460Leu)
c.4358A>T (p.Gln1453Leu)
n.4653A>T
6g.157200931_157200934delinsAGATCA1675543151ARID1Bc.4547_4550delinsAGAT (p.Gln1516=)
c.4616_4619delinsAGAT (p.Gln1539=)
c.4835_4838delinsAGAT (p.Gln1612=)
c.4586_4589delinsAGAT (p.Gln1529=)
c.4298_4301delinsAGAT (p.Gln1433=)
c.2864_2867delinsAGAT (p.Gln955=)
c.2027_2030delinsAGAT (p.Gln676=)
c.1658_1661delinsAGAT (p.Gln553=)
n.3169_3172delinsAGAT
n.626_629delinsAGAT
c.4706_4709delinsAGAT (p.Gln1569=)
n.2703_2706delinsAGAT
c.2074_2077delinsAGAT
c.1988_1991delinsAGAT
n.1372_1375delinsAGAT
c.2048_2051delinsAGAT (p.Gln683=)
c.2207_2210delinsAGAT (p.Gln736=)
c.4337_4340delinsAGAT (p.Gln1446=)
c.4457_4460delinsAGAT (p.Gln1486=)
c.3536_3539delinsAGAT (p.Gln1179=)
c.3356_3359delinsAGAT (p.Gln1119=)
c.3116_3119delinsAGAT (p.Gln1039=)
c.2735_2738delinsAGAT (p.Gln912=)
c.1598_1601delinsAGAT (p.Gln533=)
c.4667_4670delinsAGAT (p.Gln1556=)
c.4568_4571delinsAGAT (p.Gln1523=)
c.4538_4541delinsAGAT (p.Gln1513=)
c.4508_4511delinsAGAT (p.Gln1503=)
c.4379_4382delinsAGAT (p.Gln1460=)
c.4358_4361delinsAGAT (p.Gln1453=)
n.4653_4656delinsAGAT
6g.157200932G>ACA452978019ARID1Bc.4548G>A (p.Gln1516=)
c.4617G>A (p.Gln1539=)
c.4836G>A (p.Gln1612=)
c.4587G>A (p.Gln1529=)
c.4299G>A (p.Gln1433=)
c.2865G>A (p.Gln955=)
c.2028G>A (p.Gln676=)
c.1659G>A (p.Gln553=)
n.3170G>A
n.627G>A
c.4707G>A (p.Gln1569=)
n.2704G>A
c.2075G>A
c.1989G>A
n.1373G>A
c.2049G>A (p.Gln683=)
c.2208G>A (p.Gln736=)
c.4338G>A (p.Gln1446=)
c.4458G>A (p.Gln1486=)
c.3537G>A (p.Gln1179=)
c.3357G>A (p.Gln1119=)
c.3117G>A (p.Gln1039=)
c.2736G>A (p.Gln912=)
c.1599G>A (p.Gln533=)
c.4668G>A (p.Gln1556=)
c.4569G>A (p.Gln1523=)
c.4539G>A (p.Gln1513=)
c.4509G>A (p.Gln1503=)
c.4380G>A (p.Gln1460=)
c.4359G>A (p.Gln1453=)
n.4654G>A
6g.157200932G>CCA366241254ARID1Bc.4548G>C (p.Gln1516His)
c.4617G>C (p.Gln1539His)
c.4836G>C (p.Gln1612His)
c.4587G>C (p.Gln1529His)
c.4299G>C (p.Gln1433His)
c.2865G>C (p.Gln955His)
c.2028G>C (p.Gln676His)
c.1659G>C (p.Gln553His)
n.3170G>C
n.627G>C
c.4707G>C (p.Gln1569His)
n.2704G>C
c.2075G>C
c.1989G>C
n.1373G>C
c.2049G>C (p.Gln683His)
c.2208G>C (p.Gln736His)
c.4338G>C (p.Gln1446His)
c.4458G>C (p.Gln1486His)
c.3537G>C (p.Gln1179His)
c.3357G>C (p.Gln1119His)
c.3117G>C (p.Gln1039His)
c.2736G>C (p.Gln912His)
c.1599G>C (p.Gln533His)
c.4668G>C (p.Gln1556His)
c.4569G>C (p.Gln1523His)
c.4539G>C (p.Gln1513His)
c.4509G>C (p.Gln1503His)
c.4380G>C (p.Gln1460His)
c.4359G>C (p.Gln1453His)
n.4654G>C
6g.157200932G>TCA366241255ARID1Bc.4548G>T (p.Gln1516His)
c.4617G>T (p.Gln1539His)
c.4836G>T (p.Gln1612His)
c.4587G>T (p.Gln1529His)
c.4299G>T (p.Gln1433His)
c.2865G>T (p.Gln955His)
c.2028G>T (p.Gln676His)
c.1659G>T (p.Gln553His)
n.3170G>T
n.627G>T
c.4707G>T (p.Gln1569His)
n.2704G>T
c.2075G>T
c.1989G>T
n.1373G>T
c.2049G>T (p.Gln683His)
c.2208G>T (p.Gln736His)
c.4338G>T (p.Gln1446His)
c.4458G>T (p.Gln1486His)
c.3537G>T (p.Gln1179His)
c.3357G>T (p.Gln1119His)
c.3117G>T (p.Gln1039His)
c.2736G>T (p.Gln912His)
c.1599G>T (p.Gln533His)
c.4668G>T (p.Gln1556His)
c.4569G>T (p.Gln1523His)
c.4539G>T (p.Gln1513His)
c.4509G>T (p.Gln1503His)
c.4380G>T (p.Gln1460His)
c.4359G>T (p.Gln1453His)
n.4654G>T
6g.157200936_157200938delCA571903909ARID1Bc.4552_4554del (p.Met1518del)
c.4621_4623del (p.Met1541del)
c.4840_4842del (p.Met1614del)
c.4591_4593del (p.Met1531del)
c.4303_4305del (p.Met1435del)
c.2869_2871del (p.Met957del)
c.2032_2034del (p.Met678del)
c.1663_1665del (p.Met555del)
n.3174_3176del
n.631_633del
c.4711_4713del (p.Met1571del)
n.2708_2710del
c.2079_2081del
c.1993_1995del
n.1377_1379del
c.2053_2055del (p.Met685del)
c.2212_2214del (p.Met738del)
c.4342_4344del (p.Met1448del)
c.4462_4464del (p.Met1488del)
c.3541_3543del (p.Met1181del)
c.3361_3363del (p.Met1121del)
c.3121_3123del (p.Met1041del)
c.2740_2742del (p.Met914del)
c.1603_1605del (p.Met535del)
c.4672_4674del (p.Met1558del)
c.4573_4575del (p.Met1525del)
c.4543_4545del (p.Met1515del)
c.4513_4515del (p.Met1505del)
c.4384_4386del (p.Met1462del)
c.4363_4365del (p.Met1455del)
n.4658_4660del
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.157200933A>CCA366241256ARID1Bc.4549A>C (p.Met1517Leu)
c.4618A>C (p.Met1540Leu)
c.4837A>C (p.Met1613Leu)
c.4588A>C (p.Met1530Leu)
c.4300A>C (p.Met1434Leu)
c.2866A>C (p.Met956Leu)
c.2029A>C (p.Met677Leu)
c.1660A>C (p.Met554Leu)
n.3171A>C
n.628A>C
c.4708A>C (p.Met1570Leu)
n.2705A>C
c.2076A>C
c.1990A>C
n.1374A>C
c.2050A>C (p.Met684Leu)
c.2209A>C (p.Met737Leu)
c.4339A>C (p.Met1447Leu)
c.4459A>C (p.Met1487Leu)
c.3538A>C (p.Met1180Leu)
c.3358A>C (p.Met1120Leu)
c.3118A>C (p.Met1040Leu)
c.2737A>C (p.Met913Leu)
c.1600A>C (p.Met534Leu)
c.4669A>C (p.Met1557Leu)
c.4570A>C (p.Met1524Leu)
c.4540A>C (p.Met1514Leu)
c.4510A>C (p.Met1504Leu)
c.4381A>C (p.Met1461Leu)
c.4360A>C (p.Met1454Leu)
n.4655A>C
6g.157200933A>GCA366241258ARID1Bc.4549A>G (p.Met1517Val)
c.4618A>G (p.Met1540Val)
c.4837A>G (p.Met1613Val)
c.4588A>G (p.Met1530Val)
c.4300A>G (p.Met1434Val)
c.2866A>G (p.Met956Val)
c.2029A>G (p.Met677Val)
c.1660A>G (p.Met554Val)
n.3171A>G
n.628A>G
c.4708A>G (p.Met1570Val)
n.2705A>G
c.2076A>G
c.1990A>G
n.1374A>G
c.2050A>G (p.Met684Val)
c.2209A>G (p.Met737Val)
c.4339A>G (p.Met1447Val)
c.4459A>G (p.Met1487Val)
c.3538A>G (p.Met1180Val)
c.3358A>G (p.Met1120Val)
c.3118A>G (p.Met1040Val)
c.2737A>G (p.Met913Val)
c.1600A>G (p.Met534Val)
c.4669A>G (p.Met1557Val)
c.4570A>G (p.Met1524Val)
c.4540A>G (p.Met1514Val)
c.4510A>G (p.Met1504Val)
c.4381A>G (p.Met1461Val)
c.4360A>G (p.Met1454Val)
n.4655A>G
6g.157200933A>TCA366241257ARID1Bc.4549A>T (p.Met1517Leu)
c.4618A>T (p.Met1540Leu)
c.4837A>T (p.Met1613Leu)
c.4588A>T (p.Met1530Leu)
c.4300A>T (p.Met1434Leu)
c.2866A>T (p.Met956Leu)
c.2029A>T (p.Met677Leu)
c.1660A>T (p.Met554Leu)
n.3171A>T
n.628A>T
c.4708A>T (p.Met1570Leu)
n.2705A>T
c.2076A>T
c.1990A>T
n.1374A>T
c.2050A>T (p.Met684Leu)
c.2209A>T (p.Met737Leu)
c.4339A>T (p.Met1447Leu)
c.4459A>T (p.Met1487Leu)
c.3538A>T (p.Met1180Leu)
c.3358A>T (p.Met1120Leu)
c.3118A>T (p.Met1040Leu)
c.2737A>T (p.Met913Leu)
c.1600A>T (p.Met534Leu)
c.4669A>T (p.Met1557Leu)
c.4570A>T (p.Met1524Leu)
c.4540A>T (p.Met1514Leu)
c.4510A>T (p.Met1504Leu)
c.4381A>T (p.Met1461Leu)
c.4360A>T (p.Met1454Leu)
n.4655A>T
6g.157200934T>ACA366241259ARID1Bc.4550T>A (p.Met1517Lys)
c.4619T>A (p.Met1540Lys)
c.4838T>A (p.Met1613Lys)
c.4589T>A (p.Met1530Lys)
c.4301T>A (p.Met1434Lys)
c.2867T>A (p.Met956Lys)
c.2030T>A (p.Met677Lys)
c.1661T>A (p.Met554Lys)
n.3172T>A
n.629T>A
c.4709T>A (p.Met1570Lys)
n.2706T>A
c.2077T>A
c.1991T>A
n.1375T>A
c.2051T>A (p.Met684Lys)
c.2210T>A (p.Met737Lys)
c.4340T>A (p.Met1447Lys)
c.4460T>A (p.Met1487Lys)
c.3539T>A (p.Met1180Lys)
c.3359T>A (p.Met1120Lys)
c.3119T>A (p.Met1040Lys)
c.2738T>A (p.Met913Lys)
c.1601T>A (p.Met534Lys)
c.4670T>A (p.Met1557Lys)
c.4571T>A (p.Met1524Lys)
c.4541T>A (p.Met1514Lys)
c.4511T>A (p.Met1504Lys)
c.4382T>A (p.Met1461Lys)
c.4361T>A (p.Met1454Lys)
n.4656T>A
6g.157200934T>CCA366241260ARID1Bc.4550T>C (p.Met1517Thr)
c.4619T>C (p.Met1540Thr)
c.4838T>C (p.Met1613Thr)
c.4589T>C (p.Met1530Thr)
c.4301T>C (p.Met1434Thr)
c.2867T>C (p.Met956Thr)
c.2030T>C (p.Met677Thr)
c.1661T>C (p.Met554Thr)
n.3172T>C
n.629T>C
c.4709T>C (p.Met1570Thr)
n.2706T>C
c.2077T>C
c.1991T>C
n.1375T>C
c.2051T>C (p.Met684Thr)
c.2210T>C (p.Met737Thr)
c.4340T>C (p.Met1447Thr)
c.4460T>C (p.Met1487Thr)
c.3539T>C (p.Met1180Thr)
c.3359T>C (p.Met1120Thr)
c.3119T>C (p.Met1040Thr)
c.2738T>C (p.Met913Thr)
c.1601T>C (p.Met534Thr)
c.4670T>C (p.Met1557Thr)
c.4571T>C (p.Met1524Thr)
c.4541T>C (p.Met1514Thr)
c.4511T>C (p.Met1504Thr)
c.4382T>C (p.Met1461Thr)
c.4361T>C (p.Met1454Thr)
n.4656T>C
6g.157200934T>GCA366241261ARID1Bc.4550T>G (p.Met1517Arg)
c.4619T>G (p.Met1540Arg)
c.4838T>G (p.Met1613Arg)
c.4589T>G (p.Met1530Arg)
c.4301T>G (p.Met1434Arg)
c.2867T>G (p.Met956Arg)
c.2030T>G (p.Met677Arg)
c.1661T>G (p.Met554Arg)
n.3172T>G
n.629T>G
c.4709T>G (p.Met1570Arg)
n.2706T>G
c.2077T>G
c.1991T>G
n.1375T>G
c.2051T>G (p.Met684Arg)
c.2210T>G (p.Met737Arg)
c.4340T>G (p.Met1447Arg)
c.4460T>G (p.Met1487Arg)
c.3539T>G (p.Met1180Arg)
c.3359T>G (p.Met1120Arg)
c.3119T>G (p.Met1040Arg)
c.2738T>G (p.Met913Arg)
c.1601T>G (p.Met534Arg)
c.4670T>G (p.Met1557Arg)
c.4571T>G (p.Met1524Arg)
c.4541T>G (p.Met1514Arg)
c.4511T>G (p.Met1504Arg)
c.4382T>G (p.Met1461Arg)
c.4361T>G (p.Met1454Arg)
n.4656T>G
6g.157200935G>ACA366241262ARID1Bc.4551G>A (p.Met1517Ile)
c.4620G>A (p.Met1540Ile)
c.4839G>A (p.Met1613Ile)
c.4590G>A (p.Met1530Ile)
c.4302G>A (p.Met1434Ile)
c.2868G>A (p.Met956Ile)
c.2031G>A (p.Met677Ile)
c.1662G>A (p.Met554Ile)
n.3173G>A
n.630G>A
c.4710G>A (p.Met1570Ile)
n.2707G>A
c.2078G>A
c.1992G>A
n.1376G>A
c.2052G>A (p.Met684Ile)
c.2211G>A (p.Met737Ile)
c.4341G>A (p.Met1447Ile)
c.4461G>A (p.Met1487Ile)
c.3540G>A (p.Met1180Ile)
c.3360G>A (p.Met1120Ile)
c.3120G>A (p.Met1040Ile)
c.2739G>A (p.Met913Ile)
c.1602G>A (p.Met534Ile)
c.4671G>A (p.Met1557Ile)
c.4572G>A (p.Met1524Ile)
c.4542G>A (p.Met1514Ile)
c.4512G>A (p.Met1504Ile)
c.4383G>A (p.Met1461Ile)
c.4362G>A (p.Met1454Ile)
n.4657G>A
ClinVar dbSNP gnomAD v2 gnomAD v4
6g.157200935G>CCA4067689ARID1Bc.4551G>C (p.Met1517Ile)
c.4620G>C (p.Met1540Ile)
c.4839G>C (p.Met1613Ile)
c.4590G>C (p.Met1530Ile)
c.4302G>C (p.Met1434Ile)
c.2868G>C (p.Met956Ile)
c.2031G>C (p.Met677Ile)
c.1662G>C (p.Met554Ile)
n.3173G>C
n.630G>C
c.4710G>C (p.Met1570Ile)
n.2707G>C
c.2078G>C
c.1992G>C
n.1376G>C
c.2052G>C (p.Met684Ile)
c.2211G>C (p.Met737Ile)
c.4341G>C (p.Met1447Ile)
c.4461G>C (p.Met1487Ile)
c.3540G>C (p.Met1180Ile)
c.3360G>C (p.Met1120Ile)
c.3120G>C (p.Met1040Ile)
c.2739G>C (p.Met913Ile)
c.1602G>C (p.Met534Ile)
c.4671G>C (p.Met1557Ile)
c.4572G>C (p.Met1524Ile)
c.4542G>C (p.Met1514Ile)
c.4512G>C (p.Met1504Ile)
c.4383G>C (p.Met1461Ile)
c.4362G>C (p.Met1454Ile)
n.4657G>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.157200935G=CA1675543152ARID1Bc.4551G= (p.Met1517=)
c.4620G= (p.Met1540=)
c.4839G= (p.Met1613=)
c.4590G= (p.Met1530=)
c.4302G= (p.Met1434=)
c.2868G= (p.Met956=)
c.2031G= (p.Met677=)
c.1662G= (p.Met554=)
n.3173G=
n.630G=
c.4710G= (p.Met1570=)
n.2707G=
c.2078G=
c.1992G=
n.1376G=
c.2052G= (p.Met684=)
c.2211G= (p.Met737=)
c.4341G= (p.Met1447=)
c.4461G= (p.Met1487=)
c.3540G= (p.Met1180=)
c.3360G= (p.Met1120=)
c.3120G= (p.Met1040=)
c.2739G= (p.Met913=)
c.1602G= (p.Met534=)
c.4671G= (p.Met1557=)
c.4572G= (p.Met1524=)
c.4542G= (p.Met1514=)
c.4512G= (p.Met1504=)
c.4383G= (p.Met1461=)
c.4362G= (p.Met1454=)
n.4657G=
6g.157200935G>TCA366241263ARID1Bc.4551G>T (p.Met1517Ile)
c.4620G>T (p.Met1540Ile)
c.4839G>T (p.Met1613Ile)
c.4590G>T (p.Met1530Ile)
c.4302G>T (p.Met1434Ile)
c.2868G>T (p.Met956Ile)
c.2031G>T (p.Met677Ile)
c.1662G>T (p.Met554Ile)
n.3173G>T
n.630G>T
c.4710G>T (p.Met1570Ile)
n.2707G>T
c.2078G>T
c.1992G>T
n.1376G>T
c.2052G>T (p.Met684Ile)
c.2211G>T (p.Met737Ile)
c.4341G>T (p.Met1447Ile)
c.4461G>T (p.Met1487Ile)
c.3540G>T (p.Met1180Ile)
c.3360G>T (p.Met1120Ile)
c.3120G>T (p.Met1040Ile)
c.2739G>T (p.Met913Ile)
c.1602G>T (p.Met534Ile)
c.4671G>T (p.Met1557Ile)
c.4572G>T (p.Met1524Ile)
c.4542G>T (p.Met1514Ile)
c.4512G>T (p.Met1504Ile)
c.4383G>T (p.Met1461Ile)
c.4362G>T (p.Met1454Ile)
n.4657G>T
6g.157200936A=CA1675543153ARID1Bc.4552A= (p.Met1518=)
c.4621A= (p.Met1541=)
c.4840A= (p.Met1614=)
c.4591A= (p.Met1531=)
c.4303A= (p.Met1435=)
c.2869A= (p.Met957=)
c.2032A= (p.Met678=)
c.1663A= (p.Met555=)
n.3174A=
n.631A=
c.4711A= (p.Met1571=)
n.2708A=
c.2079A=
c.1993A=
n.1377A=
c.2053A= (p.Met685=)
c.2212A= (p.Met738=)
c.4342A= (p.Met1448=)
c.4462A= (p.Met1488=)
c.3541A= (p.Met1181=)
c.3361A= (p.Met1121=)
c.3121A= (p.Met1041=)
c.2740A= (p.Met914=)
c.1603A= (p.Met535=)
c.4672A= (p.Met1558=)
c.4573A= (p.Met1525=)
c.4543A= (p.Met1515=)
c.4513A= (p.Met1505=)
c.4384A= (p.Met1462=)
c.4363A= (p.Met1455=)
n.4658A=
6g.157200936A>CCA366241264ARID1Bc.4552A>C (p.Met1518Leu)
c.4621A>C (p.Met1541Leu)
c.4840A>C (p.Met1614Leu)
c.4591A>C (p.Met1531Leu)
c.4303A>C (p.Met1435Leu)
c.2869A>C (p.Met957Leu)
c.2032A>C (p.Met678Leu)
c.1663A>C (p.Met555Leu)
n.3174A>C
n.631A>C
c.4711A>C (p.Met1571Leu)
n.2708A>C
c.2079A>C
c.1993A>C
n.1377A>C
c.2053A>C (p.Met685Leu)
c.2212A>C (p.Met738Leu)
c.4342A>C (p.Met1448Leu)
c.4462A>C (p.Met1488Leu)
c.3541A>C (p.Met1181Leu)
c.3361A>C (p.Met1121Leu)
c.3121A>C (p.Met1041Leu)
c.2740A>C (p.Met914Leu)
c.1603A>C (p.Met535Leu)
c.4672A>C (p.Met1558Leu)
c.4573A>C (p.Met1525Leu)
c.4543A>C (p.Met1515Leu)
c.4513A>C (p.Met1505Leu)
c.4384A>C (p.Met1462Leu)
c.4363A>C (p.Met1455Leu)
n.4658A>C
6g.157200936A>GCA366241265ARID1Bc.4552A>G (p.Met1518Val)
c.4621A>G (p.Met1541Val)
c.4840A>G (p.Met1614Val)
c.4591A>G (p.Met1531Val)
c.4303A>G (p.Met1435Val)
c.2869A>G (p.Met957Val)
c.2032A>G (p.Met678Val)
c.1663A>G (p.Met555Val)
n.3174A>G
n.631A>G
c.4711A>G (p.Met1571Val)
n.2708A>G
c.2079A>G
c.1993A>G
n.1377A>G
c.2053A>G (p.Met685Val)
c.2212A>G (p.Met738Val)
c.4342A>G (p.Met1448Val)
c.4462A>G (p.Met1488Val)
c.3541A>G (p.Met1181Val)
c.3361A>G (p.Met1121Val)
c.3121A>G (p.Met1041Val)
c.2740A>G (p.Met914Val)
c.1603A>G (p.Met535Val)
c.4672A>G (p.Met1558Val)
c.4573A>G (p.Met1525Val)
c.4543A>G (p.Met1515Val)
c.4513A>G (p.Met1505Val)
c.4384A>G (p.Met1462Val)
c.4363A>G (p.Met1455Val)
n.4658A>G
ClinVar
6g.157200936A>TCA366241266ARID1Bc.4552A>T (p.Met1518Leu)
c.4621A>T (p.Met1541Leu)
c.4840A>T (p.Met1614Leu)
c.4591A>T (p.Met1531Leu)
c.4303A>T (p.Met1435Leu)
c.2869A>T (p.Met957Leu)
c.2032A>T (p.Met678Leu)
c.1663A>T (p.Met555Leu)
n.3174A>T
n.631A>T
c.4711A>T (p.Met1571Leu)
n.2708A>T
c.2079A>T
c.1993A>T
n.1377A>T
c.2053A>T (p.Met685Leu)
c.2212A>T (p.Met738Leu)
c.4342A>T (p.Met1448Leu)
c.4462A>T (p.Met1488Leu)
c.3541A>T (p.Met1181Leu)
c.3361A>T (p.Met1121Leu)
c.3121A>T (p.Met1041Leu)
c.2740A>T (p.Met914Leu)
c.1603A>T (p.Met535Leu)
c.4672A>T (p.Met1558Leu)
c.4573A>T (p.Met1525Leu)
c.4543A>T (p.Met1515Leu)
c.4513A>T (p.Met1505Leu)
c.4384A>T (p.Met1462Leu)
c.4363A>T (p.Met1455Leu)
n.4658A>T
dbSNP gnomAD v3 gnomAD v4
6g.157200936_157200937delinsATCA1675543154ARID1Bc.4552_4553delinsAT (p.Met1518=)
c.4621_4622delinsAT (p.Met1541=)
c.4840_4841delinsAT (p.Met1614=)
c.4591_4592delinsAT (p.Met1531=)
c.4303_4304delinsAT (p.Met1435=)
c.2869_2870delinsAT (p.Met957=)
c.2032_2033delinsAT (p.Met678=)
c.1663_1664delinsAT (p.Met555=)
n.3174_3175delinsAT
n.631_632delinsAT
c.4711_4712delinsAT (p.Met1571=)
n.2708_2709delinsAT
c.2079_2080delinsAT
c.1993_1994delinsAT
n.1377_1378delinsAT
c.2053_2054delinsAT (p.Met685=)
c.2212_2213delinsAT (p.Met738=)
c.4342_4343delinsAT (p.Met1448=)
c.4462_4463delinsAT (p.Met1488=)
c.3541_3542delinsAT (p.Met1181=)
c.3361_3362delinsAT (p.Met1121=)
c.3121_3122delinsAT (p.Met1041=)
c.2740_2741delinsAT (p.Met914=)
c.1603_1604delinsAT (p.Met535=)
c.4672_4673delinsAT (p.Met1558=)
c.4573_4574delinsAT (p.Met1525=)
c.4543_4544delinsAT (p.Met1515=)
c.4513_4514delinsAT (p.Met1505=)
c.4384_4385delinsAT (p.Met1462=)
c.4363_4364delinsAT (p.Met1455=)
n.4658_4659delinsAT
6g.157200937delCA1139659897ARID1Bc.4553del (p.Met1518ArgfsTer?)
c.4622del (p.Met1541ArgfsTer?)
c.4841del (p.Met1614ArgfsTer?)
c.4592del (p.Met1531ArgfsTer?)
c.4304del (p.Met1435ArgfsTer?)
c.2870del (p.Met957ArgfsTer?)
c.2033del (p.Met678ArgfsTer?)
c.1664del (p.Met555ArgfsTer?)
n.3175del
n.632del
c.4712del (p.Met1571ArgfsTer?)
n.2709del
c.2080del
c.1994del
n.1378del
c.2054del (p.Met685ArgfsTer?)
c.2213del (p.Met738ArgfsTer?)
c.4343del (p.Met1448ArgfsTer?)
c.4463del (p.Met1488ArgfsTer?)
c.3542del (p.Met1181ArgfsTer?)
c.3362del (p.Met1121ArgfsTer?)
c.3122del (p.Met1041ArgfsTer?)
c.2741del (p.Met914ArgfsTer?)
c.1604del (p.Met535ArgfsTer?)
c.4673del (p.Met1558ArgfsTer?)
c.4574del (p.Met1525ArgfsTer?)
c.4544del (p.Met1515ArgfsTer?)
c.4514del (p.Met1505ArgfsTer?)
c.4385del (p.Met1462ArgfsTer?)
c.4364del (p.Met1455ArgfsTer?)
n.4659del
ClinVar dbSNP
6g.157200937T>ACA366241267ARID1Bc.4553T>A (p.Met1518Lys)
c.4622T>A (p.Met1541Lys)
c.4841T>A (p.Met1614Lys)
c.4592T>A (p.Met1531Lys)
c.4304T>A (p.Met1435Lys)
c.2870T>A (p.Met957Lys)
c.2033T>A (p.Met678Lys)
c.1664T>A (p.Met555Lys)
n.3175T>A
n.632T>A
c.4712T>A (p.Met1571Lys)
n.2709T>A
c.2080T>A
c.1994T>A
n.1378T>A
c.2054T>A (p.Met685Lys)
c.2213T>A (p.Met738Lys)
c.4343T>A (p.Met1448Lys)
c.4463T>A (p.Met1488Lys)
c.3542T>A (p.Met1181Lys)
c.3362T>A (p.Met1121Lys)
c.3122T>A (p.Met1041Lys)
c.2741T>A (p.Met914Lys)
c.1604T>A (p.Met535Lys)
c.4673T>A (p.Met1558Lys)
c.4574T>A (p.Met1525Lys)
c.4544T>A (p.Met1515Lys)
c.4514T>A (p.Met1505Lys)
c.4385T>A (p.Met1462Lys)
c.4364T>A (p.Met1455Lys)
n.4659T>A
6g.157200937T>CCA366241268ARID1Bc.4553T>C (p.Met1518Thr)
c.4622T>C (p.Met1541Thr)
c.4841T>C (p.Met1614Thr)
c.4592T>C (p.Met1531Thr)
c.4304T>C (p.Met1435Thr)
c.2870T>C (p.Met957Thr)
c.2033T>C (p.Met678Thr)
c.1664T>C (p.Met555Thr)
n.3175T>C
n.632T>C
c.4712T>C (p.Met1571Thr)
n.2709T>C
c.2080T>C
c.1994T>C
n.1378T>C
c.2054T>C (p.Met685Thr)
c.2213T>C (p.Met738Thr)
c.4343T>C (p.Met1448Thr)
c.4463T>C (p.Met1488Thr)
c.3542T>C (p.Met1181Thr)
c.3362T>C (p.Met1121Thr)
c.3122T>C (p.Met1041Thr)
c.2741T>C (p.Met914Thr)
c.1604T>C (p.Met535Thr)
c.4673T>C (p.Met1558Thr)
c.4574T>C (p.Met1525Thr)
c.4544T>C (p.Met1515Thr)
c.4514T>C (p.Met1505Thr)
c.4385T>C (p.Met1462Thr)
c.4364T>C (p.Met1455Thr)
n.4659T>C
6g.157200937T>GCA366241269ARID1Bc.4553T>G (p.Met1518Arg)
c.4622T>G (p.Met1541Arg)
c.4841T>G (p.Met1614Arg)
c.4592T>G (p.Met1531Arg)
c.4304T>G (p.Met1435Arg)
c.2870T>G (p.Met957Arg)
c.2033T>G (p.Met678Arg)
c.1664T>G (p.Met555Arg)
n.3175T>G
n.632T>G
c.4712T>G (p.Met1571Arg)
n.2709T>G
c.2080T>G
c.1994T>G
n.1378T>G
c.2054T>G (p.Met685Arg)
c.2213T>G (p.Met738Arg)
c.4343T>G (p.Met1448Arg)
c.4463T>G (p.Met1488Arg)
c.3542T>G (p.Met1181Arg)
c.3362T>G (p.Met1121Arg)
c.3122T>G (p.Met1041Arg)
c.2741T>G (p.Met914Arg)
c.1604T>G (p.Met535Arg)
c.4673T>G (p.Met1558Arg)
c.4574T>G (p.Met1525Arg)
c.4544T>G (p.Met1515Arg)
c.4514T>G (p.Met1505Arg)
c.4385T>G (p.Met1462Arg)
c.4364T>G (p.Met1455Arg)
n.4659T>G
6g.157200938G>ACA366241272ARID1Bc.4554G>A (p.Met1518Ile)
c.4623G>A (p.Met1541Ile)
c.4842G>A (p.Met1614Ile)
c.4593G>A (p.Met1531Ile)
c.4305G>A (p.Met1435Ile)
c.2871G>A (p.Met957Ile)
c.2034G>A (p.Met678Ile)
c.1665G>A (p.Met555Ile)
n.3176G>A
n.633G>A
c.4713G>A (p.Met1571Ile)
n.2710G>A
c.2081G>A
c.1995G>A
n.1379G>A
c.2055G>A (p.Met685Ile)
c.2214G>A (p.Met738Ile)
c.4344G>A (p.Met1448Ile)
c.4464G>A (p.Met1488Ile)
c.3543G>A (p.Met1181Ile)
c.3363G>A (p.Met1121Ile)
c.3123G>A (p.Met1041Ile)
c.2742G>A (p.Met914Ile)
c.1605G>A (p.Met535Ile)
c.4674G>A (p.Met1558Ile)
c.4575G>A (p.Met1525Ile)
c.4545G>A (p.Met1515Ile)
c.4515G>A (p.Met1505Ile)
c.4386G>A (p.Met1462Ile)
c.4365G>A (p.Met1455Ile)
n.4660G>A
6g.157200938G>CCA366241270ARID1Bc.4554G>C (p.Met1518Ile)
c.4623G>C (p.Met1541Ile)
c.4842G>C (p.Met1614Ile)
c.4593G>C (p.Met1531Ile)
c.4305G>C (p.Met1435Ile)
c.2871G>C (p.Met957Ile)
c.2034G>C (p.Met678Ile)
c.1665G>C (p.Met555Ile)
n.3176G>C
n.633G>C
c.4713G>C (p.Met1571Ile)
n.2710G>C
c.2081G>C
c.1995G>C
n.1379G>C
c.2055G>C (p.Met685Ile)
c.2214G>C (p.Met738Ile)
c.4344G>C (p.Met1448Ile)
c.4464G>C (p.Met1488Ile)
c.3543G>C (p.Met1181Ile)
c.3363G>C (p.Met1121Ile)
c.3123G>C (p.Met1041Ile)
c.2742G>C (p.Met914Ile)
c.1605G>C (p.Met535Ile)
c.4674G>C (p.Met1558Ile)
c.4575G>C (p.Met1525Ile)
c.4545G>C (p.Met1515Ile)
c.4515G>C (p.Met1505Ile)
c.4386G>C (p.Met1462Ile)
c.4365G>C (p.Met1455Ile)
n.4660G>C
gnomAD v4
6g.157200938G>TCA366241271ARID1Bc.4554G>T (p.Met1518Ile)
c.4623G>T (p.Met1541Ile)
c.4842G>T (p.Met1614Ile)
c.4593G>T (p.Met1531Ile)
c.4305G>T (p.Met1435Ile)
c.2871G>T (p.Met957Ile)
c.2034G>T (p.Met678Ile)
c.1665G>T (p.Met555Ile)
n.3176G>T
n.633G>T
c.4713G>T (p.Met1571Ile)
n.2710G>T
c.2081G>T
c.1995G>T
n.1379G>T
c.2055G>T (p.Met685Ile)
c.2214G>T (p.Met738Ile)
c.4344G>T (p.Met1448Ile)
c.4464G>T (p.Met1488Ile)
c.3543G>T (p.Met1181Ile)
c.3363G>T (p.Met1121Ile)
c.3123G>T (p.Met1041Ile)
c.2742G>T (p.Met914Ile)
c.1605G>T (p.Met535Ile)
c.4674G>T (p.Met1558Ile)
c.4575G>T (p.Met1525Ile)
c.4545G>T (p.Met1515Ile)
c.4515G>T (p.Met1505Ile)
c.4386G>T (p.Met1462Ile)
c.4365G>T (p.Met1455Ile)
n.4660G>T
ClinVar dbSNP gnomAD v3 gnomAD v4
6g.157200939G>ACA4067690ARID1Bc.4555G>A (p.Gly1519Ser)
c.4624G>A (p.Gly1542Ser)
c.4843G>A (p.Gly1615Ser)
c.4594G>A (p.Gly1532Ser)
c.4306G>A (p.Gly1436Ser)
c.2872G>A (p.Gly958Ser)
c.2035G>A (p.Gly679Ser)
c.1666G>A (p.Gly556Ser)
n.3177G>A
n.634G>A
c.4714G>A (p.Gly1572Ser)
n.2711G>A
c.2082G>A
c.1996G>A
n.1380G>A
c.2056G>A (p.Gly686Ser)
c.2215G>A (p.Gly739Ser)
c.4345G>A (p.Gly1449Ser)
c.4465G>A (p.Gly1489Ser)
c.3544G>A (p.Gly1182Ser)
c.3364G>A (p.Gly1122Ser)
c.3124G>A (p.Gly1042Ser)
c.2743G>A (p.Gly915Ser)
c.1606G>A (p.Gly536Ser)
c.4675G>A (p.Gly1559Ser)
c.4576G>A (p.Gly1526Ser)
c.4546G>A (p.Gly1516Ser)
c.4516G>A (p.Gly1506Ser)
c.4387G>A (p.Gly1463Ser)
c.4366G>A (p.Gly1456Ser)
n.4661G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.157200939G>CCA366241273ARID1Bc.4555G>C (p.Gly1519Arg)
c.4624G>C (p.Gly1542Arg)
c.4843G>C (p.Gly1615Arg)
c.4594G>C (p.Gly1532Arg)
c.4306G>C (p.Gly1436Arg)
c.2872G>C (p.Gly958Arg)
c.2035G>C (p.Gly679Arg)
c.1666G>C (p.Gly556Arg)
n.3177G>C
n.634G>C
c.4714G>C (p.Gly1572Arg)
n.2711G>C
c.2082G>C
c.1996G>C
n.1380G>C
c.2056G>C (p.Gly686Arg)
c.2215G>C (p.Gly739Arg)
c.4345G>C (p.Gly1449Arg)
c.4465G>C (p.Gly1489Arg)
c.3544G>C (p.Gly1182Arg)
c.3364G>C (p.Gly1122Arg)
c.3124G>C (p.Gly1042Arg)
c.2743G>C (p.Gly915Arg)
c.1606G>C (p.Gly536Arg)
c.4675G>C (p.Gly1559Arg)
c.4576G>C (p.Gly1526Arg)
c.4546G>C (p.Gly1516Arg)
c.4516G>C (p.Gly1506Arg)
c.4387G>C (p.Gly1463Arg)
c.4366G>C (p.Gly1456Arg)
n.4661G>C
dbSNP gnomAD v4
6g.157200939G=CA1675543155ARID1Bc.4555G= (p.Gly1519=)
c.4624G= (p.Gly1542=)
c.4843G= (p.Gly1615=)
c.4594G= (p.Gly1532=)
c.4306G= (p.Gly1436=)
c.2872G= (p.Gly958=)
c.2035G= (p.Gly679=)
c.1666G= (p.Gly556=)
n.3177G=
n.634G=
c.4714G= (p.Gly1572=)
n.2711G=
c.2082G=
c.1996G=
n.1380G=
c.2056G= (p.Gly686=)
c.2215G= (p.Gly739=)
c.4345G= (p.Gly1449=)
c.4465G= (p.Gly1489=)
c.3544G= (p.Gly1182=)
c.3364G= (p.Gly1122=)
c.3124G= (p.Gly1042=)
c.2743G= (p.Gly915=)
c.1606G= (p.Gly536=)
c.4675G= (p.Gly1559=)
c.4576G= (p.Gly1526=)
c.4546G= (p.Gly1516=)
c.4516G= (p.Gly1506=)
c.4387G= (p.Gly1463=)
c.4366G= (p.Gly1456=)
n.4661G=
6g.157200939G>TCA366241274ARID1Bc.4555G>T (p.Gly1519Cys)
c.4624G>T (p.Gly1542Cys)
c.4843G>T (p.Gly1615Cys)
c.4594G>T (p.Gly1532Cys)
c.4306G>T (p.Gly1436Cys)
c.2872G>T (p.Gly958Cys)
c.2035G>T (p.Gly679Cys)
c.1666G>T (p.Gly556Cys)
n.3177G>T
n.634G>T
c.4714G>T (p.Gly1572Cys)
n.2711G>T
c.2082G>T
c.1996G>T
n.1380G>T
c.2056G>T (p.Gly686Cys)
c.2215G>T (p.Gly739Cys)
c.4345G>T (p.Gly1449Cys)
c.4465G>T (p.Gly1489Cys)
c.3544G>T (p.Gly1182Cys)
c.3364G>T (p.Gly1122Cys)
c.3124G>T (p.Gly1042Cys)
c.2743G>T (p.Gly915Cys)
c.1606G>T (p.Gly536Cys)
c.4675G>T (p.Gly1559Cys)
c.4576G>T (p.Gly1526Cys)
c.4546G>T (p.Gly1516Cys)
c.4516G>T (p.Gly1506Cys)
c.4387G>T (p.Gly1463Cys)
c.4366G>T (p.Gly1456Cys)
n.4661G>T
6g.157200940G>ACA366241275ARID1Bc.4556G>A (p.Gly1519Asp)
c.4625G>A (p.Gly1542Asp)
c.4844G>A (p.Gly1615Asp)
c.4595G>A (p.Gly1532Asp)
c.4307G>A (p.Gly1436Asp)
c.2873G>A (p.Gly958Asp)
c.2036G>A (p.Gly679Asp)
c.1667G>A (p.Gly556Asp)
n.3178G>A
n.635G>A
c.4715G>A (p.Gly1572Asp)
n.2712G>A
c.2083G>A
c.1997G>A
n.1381G>A
c.2057G>A (p.Gly686Asp)
c.2216G>A (p.Gly739Asp)
c.4346G>A (p.Gly1449Asp)
c.4466G>A (p.Gly1489Asp)
c.3545G>A (p.Gly1182Asp)
c.3365G>A (p.Gly1122Asp)
c.3125G>A (p.Gly1042Asp)
c.2744G>A (p.Gly915Asp)
c.1607G>A (p.Gly536Asp)
c.4676G>A (p.Gly1559Asp)
c.4577G>A (p.Gly1526Asp)
c.4547G>A (p.Gly1516Asp)
c.4517G>A (p.Gly1506Asp)
c.4388G>A (p.Gly1463Asp)
c.4367G>A (p.Gly1456Asp)
n.4662G>A
6g.157200940G>CCA366241276ARID1Bc.4556G>C (p.Gly1519Ala)
c.4625G>C (p.Gly1542Ala)
c.4844G>C (p.Gly1615Ala)
c.4595G>C (p.Gly1532Ala)
c.4307G>C (p.Gly1436Ala)
c.2873G>C (p.Gly958Ala)
c.2036G>C (p.Gly679Ala)
c.1667G>C (p.Gly556Ala)
n.3178G>C
n.635G>C
c.4715G>C (p.Gly1572Ala)
n.2712G>C
c.2083G>C
c.1997G>C
n.1381G>C
c.2057G>C (p.Gly686Ala)
c.2216G>C (p.Gly739Ala)
c.4346G>C (p.Gly1449Ala)
c.4466G>C (p.Gly1489Ala)
c.3545G>C (p.Gly1182Ala)
c.3365G>C (p.Gly1122Ala)
c.3125G>C (p.Gly1042Ala)
c.2744G>C (p.Gly915Ala)
c.1607G>C (p.Gly536Ala)
c.4676G>C (p.Gly1559Ala)
c.4577G>C (p.Gly1526Ala)
c.4547G>C (p.Gly1516Ala)
c.4517G>C (p.Gly1506Ala)
c.4388G>C (p.Gly1463Ala)
c.4367G>C (p.Gly1456Ala)
n.4662G>C
dbSNP
6g.157200940G>TCA366241277ARID1Bc.4556G>T (p.Gly1519Val)
c.4625G>T (p.Gly1542Val)
c.4844G>T (p.Gly1615Val)
c.4595G>T (p.Gly1532Val)
c.4307G>T (p.Gly1436Val)
c.2873G>T (p.Gly958Val)
c.2036G>T (p.Gly679Val)
c.1667G>T (p.Gly556Val)
n.3178G>T
n.635G>T
c.4715G>T (p.Gly1572Val)
n.2712G>T
c.2083G>T
c.1997G>T
n.1381G>T
c.2057G>T (p.Gly686Val)
c.2216G>T (p.Gly739Val)
c.4346G>T (p.Gly1449Val)
c.4466G>T (p.Gly1489Val)
c.3545G>T (p.Gly1182Val)
c.3365G>T (p.Gly1122Val)
c.3125G>T (p.Gly1042Val)
c.2744G>T (p.Gly915Val)
c.1607G>T (p.Gly536Val)
c.4676G>T (p.Gly1559Val)
c.4577G>T (p.Gly1526Val)
c.4547G>T (p.Gly1516Val)
c.4517G>T (p.Gly1506Val)
c.4388G>T (p.Gly1463Val)
c.4367G>T (p.Gly1456Val)
n.4662G>T
6g.157200941C>ACA452978026ARID1Bc.4557C>A (p.Gly1519=)
c.4626C>A (p.Gly1542=)
c.4845C>A (p.Gly1615=)
c.4596C>A (p.Gly1532=)
c.4308C>A (p.Gly1436=)
c.2874C>A (p.Gly958=)
c.2037C>A (p.Gly679=)
c.1668C>A (p.Gly556=)
n.3179C>A
n.636C>A
c.4716C>A (p.Gly1572=)
n.2713C>A
c.2084C>A
c.1998C>A
n.1382C>A
c.2058C>A (p.Gly686=)
c.2217C>A (p.Gly739=)
c.4347C>A (p.Gly1449=)
c.4467C>A (p.Gly1489=)
c.3546C>A (p.Gly1182=)
c.3366C>A (p.Gly1122=)
c.3126C>A (p.Gly1042=)
c.2745C>A (p.Gly915=)
c.1608C>A (p.Gly536=)
c.4677C>A (p.Gly1559=)
c.4578C>A (p.Gly1526=)
c.4548C>A (p.Gly1516=)
c.4518C>A (p.Gly1506=)
c.4389C>A (p.Gly1463=)
c.4368C>A (p.Gly1456=)
n.4663C>A
dbSNP
6g.157200941C=CA1675543156ARID1Bc.4557C= (p.Gly1519=)
c.4626C= (p.Gly1542=)
c.4845C= (p.Gly1615=)
c.4596C= (p.Gly1532=)
c.4308C= (p.Gly1436=)
c.2874C= (p.Gly958=)
c.2037C= (p.Gly679=)
c.1668C= (p.Gly556=)
n.3179C=
n.636C=
c.4716C= (p.Gly1572=)
n.2713C=
c.2084C=
c.1998C=
n.1382C=
c.2058C= (p.Gly686=)
c.2217C= (p.Gly739=)
c.4347C= (p.Gly1449=)
c.4467C= (p.Gly1489=)
c.3546C= (p.Gly1182=)
c.3366C= (p.Gly1122=)
c.3126C= (p.Gly1042=)
c.2745C= (p.Gly915=)
c.1608C= (p.Gly536=)
c.4677C= (p.Gly1559=)
c.4578C= (p.Gly1526=)
c.4548C= (p.Gly1516=)
c.4518C= (p.Gly1506=)
c.4389C= (p.Gly1463=)
c.4368C= (p.Gly1456=)
n.4663C=
6g.157200941C>GCA452978028ARID1Bc.4557C>G (p.Gly1519=)
c.4626C>G (p.Gly1542=)
c.4845C>G (p.Gly1615=)
c.4596C>G (p.Gly1532=)
c.4308C>G (p.Gly1436=)
c.2874C>G (p.Gly958=)
c.2037C>G (p.Gly679=)
c.1668C>G (p.Gly556=)
n.3179C>G
n.636C>G
c.4716C>G (p.Gly1572=)
n.2713C>G
c.2084C>G
c.1998C>G
n.1382C>G
c.2058C>G (p.Gly686=)
c.2217C>G (p.Gly739=)
c.4347C>G (p.Gly1449=)
c.4467C>G (p.Gly1489=)
c.3546C>G (p.Gly1182=)
c.3366C>G (p.Gly1122=)
c.3126C>G (p.Gly1042=)
c.2745C>G (p.Gly915=)
c.1608C>G (p.Gly536=)
c.4677C>G (p.Gly1559=)
c.4578C>G (p.Gly1526=)
c.4548C>G (p.Gly1516=)
c.4518C>G (p.Gly1506=)
c.4389C>G (p.Gly1463=)
c.4368C>G (p.Gly1456=)
n.4663C>G
dbSNP
6g.157200941C>TCA4067691ARID1Bc.4557C>T (p.Gly1519=)
c.4626C>T (p.Gly1542=)
c.4845C>T (p.Gly1615=)
c.4596C>T (p.Gly1532=)
c.4308C>T (p.Gly1436=)
c.2874C>T (p.Gly958=)
c.2037C>T (p.Gly679=)
c.1668C>T (p.Gly556=)
n.3179C>T
n.636C>T
c.4716C>T (p.Gly1572=)
n.2713C>T
c.2084C>T
c.1998C>T
n.1382C>T
c.2058C>T (p.Gly686=)
c.2217C>T (p.Gly739=)
c.4347C>T (p.Gly1449=)
c.4467C>T (p.Gly1489=)
c.3546C>T (p.Gly1182=)
c.3366C>T (p.Gly1122=)
c.3126C>T (p.Gly1042=)
c.2745C>T (p.Gly915=)
c.1608C>T (p.Gly536=)
c.4677C>T (p.Gly1559=)
c.4578C>T (p.Gly1526=)
c.4548C>T (p.Gly1516=)
c.4518C>T (p.Gly1506=)
c.4389C>T (p.Gly1463=)
c.4368C>T (p.Gly1456=)
n.4663C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.157200942G>ACA4067692ARID1Bc.4558G>A (p.Gly1520Ser)
c.4627G>A (p.Gly1543Ser)
c.4846G>A (p.Gly1616Ser)
c.4597G>A (p.Gly1533Ser)
c.4309G>A (p.Gly1437Ser)
c.2875G>A (p.Gly959Ser)
c.2038G>A (p.Gly680Ser)
c.1669G>A (p.Gly557Ser)
n.3180G>A
n.637G>A
c.4717G>A (p.Gly1573Ser)
n.2714G>A
c.2085G>A
c.1999G>A
n.1383G>A
c.2059G>A (p.Gly687Ser)
c.2218G>A (p.Gly740Ser)
c.4348G>A (p.Gly1450Ser)
c.4468G>A (p.Gly1490Ser)
c.3547G>A (p.Gly1183Ser)
c.3367G>A (p.Gly1123Ser)
c.3127G>A (p.Gly1043Ser)
c.2746G>A (p.Gly916Ser)
c.1609G>A (p.Gly537Ser)
c.4678G>A (p.Gly1560Ser)
c.4579G>A (p.Gly1527Ser)
c.4549G>A (p.Gly1517Ser)
c.4519G>A (p.Gly1507Ser)
c.4390G>A (p.Gly1464Ser)
c.4369G>A (p.Gly1457Ser)
n.4664G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.157200942G>CCA366241278ARID1Bc.4558G>C (p.Gly1520Arg)
c.4627G>C (p.Gly1543Arg)
c.4846G>C (p.Gly1616Arg)
c.4597G>C (p.Gly1533Arg)
c.4309G>C (p.Gly1437Arg)
c.2875G>C (p.Gly959Arg)
c.2038G>C (p.Gly680Arg)
c.1669G>C (p.Gly557Arg)
n.3180G>C
n.637G>C
c.4717G>C (p.Gly1573Arg)
n.2714G>C
c.2085G>C
c.1999G>C
n.1383G>C
c.2059G>C (p.Gly687Arg)
c.2218G>C (p.Gly740Arg)
c.4348G>C (p.Gly1450Arg)
c.4468G>C (p.Gly1490Arg)
c.3547G>C (p.Gly1183Arg)
c.3367G>C (p.Gly1123Arg)
c.3127G>C (p.Gly1043Arg)
c.2746G>C (p.Gly916Arg)
c.1609G>C (p.Gly537Arg)
c.4678G>C (p.Gly1560Arg)
c.4579G>C (p.Gly1527Arg)
c.4549G>C (p.Gly1517Arg)
c.4519G>C (p.Gly1507Arg)
c.4390G>C (p.Gly1464Arg)
c.4369G>C (p.Gly1457Arg)
n.4664G>C
6g.157200942G=CA1675543157ARID1Bc.4558G= (p.Gly1520=)
c.4627G= (p.Gly1543=)
c.4846G= (p.Gly1616=)
c.4597G= (p.Gly1533=)
c.4309G= (p.Gly1437=)
c.2875G= (p.Gly959=)
c.2038G= (p.Gly680=)
c.1669G= (p.Gly557=)
n.3180G=
n.637G=
c.4717G= (p.Gly1573=)
n.2714G=
c.2085G=
c.1999G=
n.1383G=
c.2059G= (p.Gly687=)
c.2218G= (p.Gly740=)
c.4348G= (p.Gly1450=)
c.4468G= (p.Gly1490=)
c.3547G= (p.Gly1183=)
c.3367G= (p.Gly1123=)
c.3127G= (p.Gly1043=)
c.2746G= (p.Gly916=)
c.1609G= (p.Gly537=)
c.4678G= (p.Gly1560=)
c.4579G= (p.Gly1527=)
c.4549G= (p.Gly1517=)
c.4519G= (p.Gly1507=)
c.4390G= (p.Gly1464=)
c.4369G= (p.Gly1457=)
n.4664G=
6g.157200942G>TCA366241279ARID1Bc.4558G>T (p.Gly1520Cys)
c.4627G>T (p.Gly1543Cys)
c.4846G>T (p.Gly1616Cys)
c.4597G>T (p.Gly1533Cys)
c.4309G>T (p.Gly1437Cys)
c.2875G>T (p.Gly959Cys)
c.2038G>T (p.Gly680Cys)
c.1669G>T (p.Gly557Cys)
n.3180G>T
n.637G>T
c.4717G>T (p.Gly1573Cys)
n.2714G>T
c.2085G>T
c.1999G>T
n.1383G>T
c.2059G>T (p.Gly687Cys)
c.2218G>T (p.Gly740Cys)
c.4348G>T (p.Gly1450Cys)
c.4468G>T (p.Gly1490Cys)
c.3547G>T (p.Gly1183Cys)
c.3367G>T (p.Gly1123Cys)
c.3127G>T (p.Gly1043Cys)
c.2746G>T (p.Gly916Cys)
c.1609G>T (p.Gly537Cys)
c.4678G>T (p.Gly1560Cys)
c.4579G>T (p.Gly1527Cys)
c.4549G>T (p.Gly1517Cys)
c.4519G>T (p.Gly1507Cys)
c.4390G>T (p.Gly1464Cys)
c.4369G>T (p.Gly1457Cys)
n.4664G>T
6g.157200943G>ACA366241282ARID1Bc.4559G>A (p.Gly1520Asp)
c.4628G>A (p.Gly1543Asp)
c.4847G>A (p.Gly1616Asp)
c.4598G>A (p.Gly1533Asp)
c.4310G>A (p.Gly1437Asp)
c.2876G>A (p.Gly959Asp)
c.2039G>A (p.Gly680Asp)
c.1670G>A (p.Gly557Asp)
n.3181G>A
n.638G>A
c.4718G>A (p.Gly1573Asp)
n.2715G>A
c.2086G>A
c.2000G>A
n.1384G>A
c.2060G>A (p.Gly687Asp)
c.2219G>A (p.Gly740Asp)
c.4349G>A (p.Gly1450Asp)
c.4469G>A (p.Gly1490Asp)
c.3548G>A (p.Gly1183Asp)
c.3368G>A (p.Gly1123Asp)
c.3128G>A (p.Gly1043Asp)
c.2747G>A (p.Gly916Asp)
c.1610G>A (p.Gly537Asp)
c.4679G>A (p.Gly1560Asp)
c.4580G>A (p.Gly1527Asp)
c.4550G>A (p.Gly1517Asp)
c.4520G>A (p.Gly1507Asp)
c.4391G>A (p.Gly1464Asp)
c.4370G>A (p.Gly1457Asp)
n.4665G>A
dbSNP
6g.157200943G>CCA366241281ARID1Bc.4559G>C (p.Gly1520Ala)
c.4628G>C (p.Gly1543Ala)
c.4847G>C (p.Gly1616Ala)
c.4598G>C (p.Gly1533Ala)
c.4310G>C (p.Gly1437Ala)
c.2876G>C (p.Gly959Ala)
c.2039G>C (p.Gly680Ala)
c.1670G>C (p.Gly557Ala)
n.3181G>C
n.638G>C
c.4718G>C (p.Gly1573Ala)
n.2715G>C
c.2086G>C
c.2000G>C
n.1384G>C
c.2060G>C (p.Gly687Ala)
c.2219G>C (p.Gly740Ala)
c.4349G>C (p.Gly1450Ala)
c.4469G>C (p.Gly1490Ala)
c.3548G>C (p.Gly1183Ala)
c.3368G>C (p.Gly1123Ala)
c.3128G>C (p.Gly1043Ala)
c.2747G>C (p.Gly916Ala)
c.1610G>C (p.Gly537Ala)
c.4679G>C (p.Gly1560Ala)
c.4580G>C (p.Gly1527Ala)
c.4550G>C (p.Gly1517Ala)
c.4520G>C (p.Gly1507Ala)
c.4391G>C (p.Gly1464Ala)
c.4370G>C (p.Gly1457Ala)
n.4665G>C
dbSNP gnomAD v4
6g.157200943G=CA1675543158ARID1Bc.4559G= (p.Gly1520=)
c.4628G= (p.Gly1543=)
c.4847G= (p.Gly1616=)
c.4598G= (p.Gly1533=)
c.4310G= (p.Gly1437=)
c.2876G= (p.Gly959=)
c.2039G= (p.Gly680=)
c.1670G= (p.Gly557=)
n.3181G=
n.638G=
c.4718G= (p.Gly1573=)
n.2715G=
c.2086G=
c.2000G=
n.1384G=
c.2060G= (p.Gly687=)
c.2219G= (p.Gly740=)
c.4349G= (p.Gly1450=)
c.4469G= (p.Gly1490=)
c.3548G= (p.Gly1183=)
c.3368G= (p.Gly1123=)
c.3128G= (p.Gly1043=)
c.2747G= (p.Gly916=)
c.1610G= (p.Gly537=)
c.4679G= (p.Gly1560=)
c.4580G= (p.Gly1527=)
c.4550G= (p.Gly1517=)
c.4520G= (p.Gly1507=)
c.4391G= (p.Gly1464=)
c.4370G= (p.Gly1457=)
n.4665G=
6g.157200943G>TCA366241280ARID1Bc.4559G>T (p.Gly1520Val)
c.4628G>T (p.Gly1543Val)
c.4847G>T (p.Gly1616Val)
c.4598G>T (p.Gly1533Val)
c.4310G>T (p.Gly1437Val)
c.2876G>T (p.Gly959Val)
c.2039G>T (p.Gly680Val)
c.1670G>T (p.Gly557Val)
n.3181G>T
n.638G>T
c.4718G>T (p.Gly1573Val)
n.2715G>T
c.2086G>T
c.2000G>T
n.1384G>T
c.2060G>T (p.Gly687Val)
c.2219G>T (p.Gly740Val)
c.4349G>T (p.Gly1450Val)
c.4469G>T (p.Gly1490Val)
c.3548G>T (p.Gly1183Val)
c.3368G>T (p.Gly1123Val)
c.3128G>T (p.Gly1043Val)
c.2747G>T (p.Gly916Val)
c.1610G>T (p.Gly537Val)
c.4679G>T (p.Gly1560Val)
c.4580G>T (p.Gly1527Val)
c.4550G>T (p.Gly1517Val)
c.4520G>T (p.Gly1507Val)
c.4391G>T (p.Gly1464Val)
c.4370G>T (p.Gly1457Val)
n.4665G>T
6g.157200944C>ACA452978029ARID1Bc.4560C>A (p.Gly1520=)
c.4629C>A (p.Gly1543=)
c.4848C>A (p.Gly1616=)
c.4599C>A (p.Gly1533=)
c.4311C>A (p.Gly1437=)
c.2877C>A (p.Gly959=)
c.2040C>A (p.Gly680=)
c.1671C>A (p.Gly557=)
n.3182C>A
n.639C>A
c.4719C>A (p.Gly1573=)
n.2716C>A
c.2087C>A
c.2001C>A
n.1385C>A
c.2061C>A (p.Gly687=)
c.2220C>A (p.Gly740=)
c.4350C>A (p.Gly1450=)
c.4470C>A (p.Gly1490=)
c.3549C>A (p.Gly1183=)
c.3369C>A (p.Gly1123=)
c.3129C>A (p.Gly1043=)
c.2748C>A (p.Gly916=)
c.1611C>A (p.Gly537=)
c.4680C>A (p.Gly1560=)
c.4581C>A (p.Gly1527=)
c.4551C>A (p.Gly1517=)
c.4521C>A (p.Gly1507=)
c.4392C>A (p.Gly1464=)
c.4371C>A (p.Gly1457=)
n.4666C>A
6g.157200944C=CA1675543159ARID1Bc.4560C= (p.Gly1520=)
c.4629C= (p.Gly1543=)
c.4848C= (p.Gly1616=)
c.4599C= (p.Gly1533=)
c.4311C= (p.Gly1437=)
c.2877C= (p.Gly959=)
c.2040C= (p.Gly680=)
c.1671C= (p.Gly557=)
n.3182C=
n.639C=
c.4719C= (p.Gly1573=)
n.2716C=
c.2087C=
c.2001C=
n.1385C=
c.2061C= (p.Gly687=)
c.2220C= (p.Gly740=)
c.4350C= (p.Gly1450=)
c.4470C= (p.Gly1490=)
c.3549C= (p.Gly1183=)
c.3369C= (p.Gly1123=)
c.3129C= (p.Gly1043=)
c.2748C= (p.Gly916=)
c.1611C= (p.Gly537=)
c.4680C= (p.Gly1560=)
c.4581C= (p.Gly1527=)
c.4551C= (p.Gly1517=)
c.4521C= (p.Gly1507=)
c.4392C= (p.Gly1464=)
c.4371C= (p.Gly1457=)
n.4666C=
6g.157200944C>GCA452978031ARID1Bc.4560C>G (p.Gly1520=)
c.4629C>G (p.Gly1543=)
c.4848C>G (p.Gly1616=)
c.4599C>G (p.Gly1533=)
c.4311C>G (p.Gly1437=)
c.2877C>G (p.Gly959=)
c.2040C>G (p.Gly680=)
c.1671C>G (p.Gly557=)
n.3182C>G
n.639C>G
c.4719C>G (p.Gly1573=)
n.2716C>G
c.2087C>G
c.2001C>G
n.1385C>G
c.2061C>G (p.Gly687=)
c.2220C>G (p.Gly740=)
c.4350C>G (p.Gly1450=)
c.4470C>G (p.Gly1490=)
c.3549C>G (p.Gly1183=)
c.3369C>G (p.Gly1123=)
c.3129C>G (p.Gly1043=)
c.2748C>G (p.Gly916=)
c.1611C>G (p.Gly537=)
c.4680C>G (p.Gly1560=)
c.4581C>G (p.Gly1527=)
c.4551C>G (p.Gly1517=)
c.4521C>G (p.Gly1507=)
c.4392C>G (p.Gly1464=)
c.4371C>G (p.Gly1457=)
n.4666C>G
6g.157200944C>TCA452978033ARID1Bc.4560C>T (p.Gly1520=)
c.4629C>T (p.Gly1543=)
c.4848C>T (p.Gly1616=)
c.4599C>T (p.Gly1533=)
c.4311C>T (p.Gly1437=)
c.2877C>T (p.Gly959=)
c.2040C>T (p.Gly680=)
c.1671C>T (p.Gly557=)
n.3182C>T
n.639C>T
c.4719C>T (p.Gly1573=)
n.2716C>T
c.2087C>T
c.2001C>T
n.1385C>T
c.2061C>T (p.Gly687=)
c.2220C>T (p.Gly740=)
c.4350C>T (p.Gly1450=)
c.4470C>T (p.Gly1490=)
c.3549C>T (p.Gly1183=)
c.3369C>T (p.Gly1123=)
c.3129C>T (p.Gly1043=)
c.2748C>T (p.Gly916=)
c.1611C>T (p.Gly537=)
c.4680C>T (p.Gly1560=)
c.4581C>T (p.Gly1527=)
c.4551C>T (p.Gly1517=)
c.4521C>T (p.Gly1507=)
c.4392C>T (p.Gly1464=)
c.4371C>T (p.Gly1457=)
n.4666C>T
dbSNP gnomAD v2
6g.157200945C>ACA366241283ARID1Bc.4561C>A (p.Pro1521Thr)
c.4630C>A (p.Pro1544Thr)
c.4849C>A (p.Pro1617Thr)
c.4600C>A (p.Pro1534Thr)
c.4312C>A (p.Pro1438Thr)
c.2878C>A (p.Pro960Thr)
c.2041C>A (p.Pro681Thr)
c.1672C>A (p.Pro558Thr)
n.3183C>A
n.640C>A
c.4720C>A (p.Pro1574Thr)
n.2717C>A
c.2088C>A
c.2002C>A
n.1386C>A
c.2062C>A (p.Pro688Thr)
c.2221C>A (p.Pro741Thr)
c.4351C>A (p.Pro1451Thr)
c.4471C>A (p.Pro1491Thr)
c.3550C>A (p.Pro1184Thr)
c.3370C>A (p.Pro1124Thr)
c.3130C>A (p.Pro1044Thr)
c.2749C>A (p.Pro917Thr)
c.1612C>A (p.Pro538Thr)
c.4681C>A (p.Pro1561Thr)
c.4582C>A (p.Pro1528Thr)
c.4552C>A (p.Pro1518Thr)
c.4522C>A (p.Pro1508Thr)
c.4393C>A (p.Pro1465Thr)
c.4372C>A (p.Pro1458Thr)
n.4667C>A
6g.157200945C>GCA366241284ARID1Bc.4561C>G (p.Pro1521Ala)
c.4630C>G (p.Pro1544Ala)
c.4849C>G (p.Pro1617Ala)
c.4600C>G (p.Pro1534Ala)
c.4312C>G (p.Pro1438Ala)
c.2878C>G (p.Pro960Ala)
c.2041C>G (p.Pro681Ala)
c.1672C>G (p.Pro558Ala)
n.3183C>G
n.640C>G
c.4720C>G (p.Pro1574Ala)
n.2717C>G
c.2088C>G
c.2002C>G
n.1386C>G
c.2062C>G (p.Pro688Ala)
c.2221C>G (p.Pro741Ala)
c.4351C>G (p.Pro1451Ala)
c.4471C>G (p.Pro1491Ala)
c.3550C>G (p.Pro1184Ala)
c.3370C>G (p.Pro1124Ala)
c.3130C>G (p.Pro1044Ala)
c.2749C>G (p.Pro917Ala)
c.1612C>G (p.Pro538Ala)
c.4681C>G (p.Pro1561Ala)
c.4582C>G (p.Pro1528Ala)
c.4552C>G (p.Pro1518Ala)
c.4522C>G (p.Pro1508Ala)
c.4393C>G (p.Pro1465Ala)
c.4372C>G (p.Pro1458Ala)
n.4667C>G
6g.157200945C>TCA366241285ARID1Bc.4561C>T (p.Pro1521Ser)
c.4630C>T (p.Pro1544Ser)
c.4849C>T (p.Pro1617Ser)
c.4600C>T (p.Pro1534Ser)
c.4312C>T (p.Pro1438Ser)
c.2878C>T (p.Pro960Ser)
c.2041C>T (p.Pro681Ser)
c.1672C>T (p.Pro558Ser)
n.3183C>T
n.640C>T
c.4720C>T (p.Pro1574Ser)
n.2717C>T
c.2088C>T
c.2002C>T
n.1386C>T
c.2062C>T (p.Pro688Ser)
c.2221C>T (p.Pro741Ser)
c.4351C>T (p.Pro1451Ser)
c.4471C>T (p.Pro1491Ser)
c.3550C>T (p.Pro1184Ser)
c.3370C>T (p.Pro1124Ser)
c.3130C>T (p.Pro1044Ser)
c.2749C>T (p.Pro917Ser)
c.1612C>T (p.Pro538Ser)
c.4681C>T (p.Pro1561Ser)
c.4582C>T (p.Pro1528Ser)
c.4552C>T (p.Pro1518Ser)
c.4522C>T (p.Pro1508Ser)
c.4393C>T (p.Pro1465Ser)
c.4372C>T (p.Pro1458Ser)
n.4667C>T
gnomAD v4
6g.157200946C>ACA366241286ARID1Bc.4562C>A (p.Pro1521Gln)
c.4631C>A (p.Pro1544Gln)
c.4850C>A (p.Pro1617Gln)
c.4601C>A (p.Pro1534Gln)
c.4313C>A (p.Pro1438Gln)
c.2879C>A (p.Pro960Gln)
c.2042C>A (p.Pro681Gln)
c.1673C>A (p.Pro558Gln)
n.3184C>A
n.641C>A
c.4721C>A (p.Pro1574Gln)
n.2718C>A
c.2089C>A
c.2003C>A
n.1387C>A
c.2063C>A (p.Pro688Gln)
c.2222C>A (p.Pro741Gln)
c.4352C>A (p.Pro1451Gln)
c.4472C>A (p.Pro1491Gln)
c.3551C>A (p.Pro1184Gln)
c.3371C>A (p.Pro1124Gln)
c.3131C>A (p.Pro1044Gln)
c.2750C>A (p.Pro917Gln)
c.1613C>A (p.Pro538Gln)
c.4682C>A (p.Pro1561Gln)
c.4583C>A (p.Pro1528Gln)
c.4553C>A (p.Pro1518Gln)
c.4523C>A (p.Pro1508Gln)
c.4394C>A (p.Pro1465Gln)
c.4373C>A (p.Pro1458Gln)
n.4668C>A
6g.157200946C=CA1675543160ARID1Bc.4562C= (p.Pro1521=)
c.4631C= (p.Pro1544=)
c.4850C= (p.Pro1617=)
c.4601C= (p.Pro1534=)
c.4313C= (p.Pro1438=)
c.2879C= (p.Pro960=)
c.2042C= (p.Pro681=)
c.1673C= (p.Pro558=)
n.3184C=
n.641C=
c.4721C= (p.Pro1574=)
n.2718C=
c.2089C=
c.2003C=
n.1387C=
c.2063C= (p.Pro688=)
c.2222C= (p.Pro741=)
c.4352C= (p.Pro1451=)
c.4472C= (p.Pro1491=)
c.3551C= (p.Pro1184=)
c.3371C= (p.Pro1124=)
c.3131C= (p.Pro1044=)
c.2750C= (p.Pro917=)
c.1613C= (p.Pro538=)
c.4682C= (p.Pro1561=)
c.4583C= (p.Pro1528=)
c.4553C= (p.Pro1518=)
c.4523C= (p.Pro1508=)
c.4394C= (p.Pro1465=)
c.4373C= (p.Pro1458=)
n.4668C=
6g.157200946C>GCA366241287ARID1Bc.4562C>G (p.Pro1521Arg)
c.4631C>G (p.Pro1544Arg)
c.4850C>G (p.Pro1617Arg)
c.4601C>G (p.Pro1534Arg)
c.4313C>G (p.Pro1438Arg)
c.2879C>G (p.Pro960Arg)
c.2042C>G (p.Pro681Arg)
c.1673C>G (p.Pro558Arg)
n.3184C>G
n.641C>G
c.4721C>G (p.Pro1574Arg)
n.2718C>G
c.2089C>G
c.2003C>G
n.1387C>G
c.2063C>G (p.Pro688Arg)
c.2222C>G (p.Pro741Arg)
c.4352C>G (p.Pro1451Arg)
c.4472C>G (p.Pro1491Arg)
c.3551C>G (p.Pro1184Arg)
c.3371C>G (p.Pro1124Arg)
c.3131C>G (p.Pro1044Arg)
c.2750C>G (p.Pro917Arg)
c.1613C>G (p.Pro538Arg)
c.4682C>G (p.Pro1561Arg)
c.4583C>G (p.Pro1528Arg)
c.4553C>G (p.Pro1518Arg)
c.4523C>G (p.Pro1508Arg)
c.4394C>G (p.Pro1465Arg)
c.4373C>G (p.Pro1458Arg)
n.4668C>G
6g.157200946C>TCA4067693ARID1Bc.4562C>T (p.Pro1521Leu)
c.4631C>T (p.Pro1544Leu)
c.4850C>T (p.Pro1617Leu)
c.4601C>T (p.Pro1534Leu)
c.4313C>T (p.Pro1438Leu)
c.2879C>T (p.Pro960Leu)
c.2042C>T (p.Pro681Leu)
c.1673C>T (p.Pro558Leu)
n.3184C>T
n.641C>T
c.4721C>T (p.Pro1574Leu)
n.2718C>T
c.2089C>T
c.2003C>T
n.1387C>T
c.2063C>T (p.Pro688Leu)
c.2222C>T (p.Pro741Leu)
c.4352C>T (p.Pro1451Leu)
c.4472C>T (p.Pro1491Leu)
c.3551C>T (p.Pro1184Leu)
c.3371C>T (p.Pro1124Leu)
c.3131C>T (p.Pro1044Leu)
c.2750C>T (p.Pro917Leu)
c.1613C>T (p.Pro538Leu)
c.4682C>T (p.Pro1561Leu)
c.4583C>T (p.Pro1528Leu)
c.4553C>T (p.Pro1518Leu)
c.4523C>T (p.Pro1508Leu)
c.4394C>T (p.Pro1465Leu)
c.4373C>T (p.Pro1458Leu)
n.4668C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.157200947G>ACA4067694ARID1Bc.4563G>A (p.Pro1521=)
c.4632G>A (p.Pro1544=)
c.4851G>A (p.Pro1617=)
c.4602G>A (p.Pro1534=)
c.4314G>A (p.Pro1438=)
c.2880G>A (p.Pro960=)
c.2043G>A (p.Pro681=)
c.1674G>A (p.Pro558=)
n.3185G>A
n.642G>A
c.4722G>A (p.Pro1574=)
n.2719G>A
c.2090G>A
c.2004G>A
n.1388G>A
c.2064G>A (p.Pro688=)
c.2223G>A (p.Pro741=)
c.4353G>A (p.Pro1451=)
c.4473G>A (p.Pro1491=)
c.3552G>A (p.Pro1184=)
c.3372G>A (p.Pro1124=)
c.3132G>A (p.Pro1044=)
c.2751G>A (p.Pro917=)
c.1614G>A (p.Pro538=)
c.4683G>A (p.Pro1561=)
c.4584G>A (p.Pro1528=)
c.4554G>A (p.Pro1518=)
c.4524G>A (p.Pro1508=)
c.4395G>A (p.Pro1465=)
c.4374G>A (p.Pro1458=)
n.4669G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.157200947G>CCA452978037ARID1Bc.4563G>C (p.Pro1521=)
c.4632G>C (p.Pro1544=)
c.4851G>C (p.Pro1617=)
c.4602G>C (p.Pro1534=)
c.4314G>C (p.Pro1438=)
c.2880G>C (p.Pro960=)
c.2043G>C (p.Pro681=)
c.1674G>C (p.Pro558=)
n.3185G>C
n.642G>C
c.4722G>C (p.Pro1574=)
n.2719G>C
c.2090G>C
c.2004G>C
n.1388G>C
c.2064G>C (p.Pro688=)
c.2223G>C (p.Pro741=)
c.4353G>C (p.Pro1451=)
c.4473G>C (p.Pro1491=)
c.3552G>C (p.Pro1184=)
c.3372G>C (p.Pro1124=)
c.3132G>C (p.Pro1044=)
c.2751G>C (p.Pro917=)
c.1614G>C (p.Pro538=)
c.4683G>C (p.Pro1561=)
c.4584G>C (p.Pro1528=)
c.4554G>C (p.Pro1518=)
c.4524G>C (p.Pro1508=)
c.4395G>C (p.Pro1465=)
c.4374G>C (p.Pro1458=)
n.4669G>C
gnomAD v4
6g.157200947G=CA1675543161ARID1Bc.4563G= (p.Pro1521=)
c.4632G= (p.Pro1544=)
c.4851G= (p.Pro1617=)
c.4602G= (p.Pro1534=)
c.4314G= (p.Pro1438=)
c.2880G= (p.Pro960=)
c.2043G= (p.Pro681=)
c.1674G= (p.Pro558=)
n.3185G=
n.642G=
c.4722G= (p.Pro1574=)
n.2719G=
c.2090G=
c.2004G=
n.1388G=
c.2064G= (p.Pro688=)
c.2223G= (p.Pro741=)
c.4353G= (p.Pro1451=)
c.4473G= (p.Pro1491=)
c.3552G= (p.Pro1184=)
c.3372G= (p.Pro1124=)
c.3132G= (p.Pro1044=)
c.2751G= (p.Pro917=)
c.1614G= (p.Pro538=)
c.4683G= (p.Pro1561=)
c.4584G= (p.Pro1528=)
c.4554G= (p.Pro1518=)
c.4524G= (p.Pro1508=)
c.4395G= (p.Pro1465=)
c.4374G= (p.Pro1458=)
n.4669G=
6g.157200947G>TCA452978039ARID1Bc.4563G>T (p.Pro1521=)
c.4632G>T (p.Pro1544=)
c.4851G>T (p.Pro1617=)
c.4602G>T (p.Pro1534=)
c.4314G>T (p.Pro1438=)
c.2880G>T (p.Pro960=)
c.2043G>T (p.Pro681=)
c.1674G>T (p.Pro558=)
n.3185G>T
n.642G>T
c.4722G>T (p.Pro1574=)
n.2719G>T
c.2090G>T
c.2004G>T
n.1388G>T
c.2064G>T (p.Pro688=)
c.2223G>T (p.Pro741=)
c.4353G>T (p.Pro1451=)
c.4473G>T (p.Pro1491=)
c.3552G>T (p.Pro1184=)
c.3372G>T (p.Pro1124=)
c.3132G>T (p.Pro1044=)
c.2751G>T (p.Pro917=)
c.1614G>T (p.Pro538=)
c.4683G>T (p.Pro1561=)
c.4584G>T (p.Pro1528=)
c.4554G>T (p.Pro1518=)
c.4524G>T (p.Pro1508=)
c.4395G>T (p.Pro1465=)
c.4374G>T (p.Pro1458=)
n.4669G>T
6g.157200948C>ACA4067695ARID1Bc.4564C>A (p.Leu1522Met)
c.4633C>A (p.Leu1545Met)
c.4852C>A (p.Leu1618Met)
c.4603C>A (p.Leu1535Met)
c.4315C>A (p.Leu1439Met)
c.2881C>A (p.Leu961Met)
c.2044C>A (p.Leu682Met)
c.1675C>A (p.Leu559Met)
n.3186C>A
n.643C>A
c.4723C>A (p.Leu1575Met)
n.2720C>A
c.2091C>A
c.2005C>A
n.1389C>A
c.2065C>A (p.Leu689Met)
c.2224C>A (p.Leu742Met)
c.4354C>A (p.Leu1452Met)
c.4474C>A (p.Leu1492Met)
c.3553C>A (p.Leu1185Met)
c.3373C>A (p.Leu1125Met)
c.3133C>A (p.Leu1045Met)
c.2752C>A (p.Leu918Met)
c.1615C>A (p.Leu539Met)
c.4684C>A (p.Leu1562Met)
c.4585C>A (p.Leu1529Met)
c.4555C>A (p.Leu1519Met)
c.4525C>A (p.Leu1509Met)
c.4396C>A (p.Leu1466Met)
c.4375C>A (p.Leu1459Met)
n.4670C>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.157200948C=CA1675543162ARID1Bc.4564C= (p.Leu1522=)
c.4633C= (p.Leu1545=)
c.4852C= (p.Leu1618=)
c.4603C= (p.Leu1535=)
c.4315C= (p.Leu1439=)
c.2881C= (p.Leu961=)
c.2044C= (p.Leu682=)
c.1675C= (p.Leu559=)
n.3186C=
n.643C=
c.4723C= (p.Leu1575=)
n.2720C=
c.2091C=
c.2005C=
n.1389C=
c.2065C= (p.Leu689=)
c.2224C= (p.Leu742=)
c.4354C= (p.Leu1452=)
c.4474C= (p.Leu1492=)
c.3553C= (p.Leu1185=)
c.3373C= (p.Leu1125=)
c.3133C= (p.Leu1045=)
c.2752C= (p.Leu918=)
c.1615C= (p.Leu539=)
c.4684C= (p.Leu1562=)
c.4585C= (p.Leu1529=)
c.4555C= (p.Leu1519=)
c.4525C= (p.Leu1509=)
c.4396C= (p.Leu1466=)
c.4375C= (p.Leu1459=)
n.4670C=
6g.157200948C>GCA366241288ARID1Bc.4564C>G (p.Leu1522Val)
c.4633C>G (p.Leu1545Val)
c.4852C>G (p.Leu1618Val)
c.4603C>G (p.Leu1535Val)
c.4315C>G (p.Leu1439Val)
c.2881C>G (p.Leu961Val)
c.2044C>G (p.Leu682Val)
c.1675C>G (p.Leu559Val)
n.3186C>G
n.643C>G
c.4723C>G (p.Leu1575Val)
n.2720C>G
c.2091C>G
c.2005C>G
n.1389C>G
c.2065C>G (p.Leu689Val)
c.2224C>G (p.Leu742Val)
c.4354C>G (p.Leu1452Val)
c.4474C>G (p.Leu1492Val)
c.3553C>G (p.Leu1185Val)
c.3373C>G (p.Leu1125Val)
c.3133C>G (p.Leu1045Val)
c.2752C>G (p.Leu918Val)
c.1615C>G (p.Leu539Val)
c.4684C>G (p.Leu1562Val)
c.4585C>G (p.Leu1529Val)
c.4555C>G (p.Leu1519Val)
c.4525C>G (p.Leu1509Val)
c.4396C>G (p.Leu1466Val)
c.4375C>G (p.Leu1459Val)
n.4670C>G
6g.157200948C>TCA452978040ARID1Bc.4564C>T (p.Leu1522=)
c.4633C>T (p.Leu1545=)
c.4852C>T (p.Leu1618=)
c.4603C>T (p.Leu1535=)
c.4315C>T (p.Leu1439=)
c.2881C>T (p.Leu961=)
c.2044C>T (p.Leu682=)
c.1675C>T (p.Leu559=)
n.3186C>T
n.643C>T
c.4723C>T (p.Leu1575=)
n.2720C>T
c.2091C>T
c.2005C>T
n.1389C>T
c.2065C>T (p.Leu689=)
c.2224C>T (p.Leu742=)
c.4354C>T (p.Leu1452=)
c.4474C>T (p.Leu1492=)
c.3553C>T (p.Leu1185=)
c.3373C>T (p.Leu1125=)
c.3133C>T (p.Leu1045=)
c.2752C>T (p.Leu918=)
c.1615C>T (p.Leu539=)
c.4684C>T (p.Leu1562=)
c.4585C>T (p.Leu1529=)
c.4555C>T (p.Leu1519=)
c.4525C>T (p.Leu1509=)
c.4396C>T (p.Leu1466=)
c.4375C>T (p.Leu1459=)
n.4670C>T
dbSNP gnomAD v4
6g.157200949T>ACA366241289ARID1Bc.4565T>A (p.Leu1522Gln)
c.4634T>A (p.Leu1545Gln)
c.4853T>A (p.Leu1618Gln)
c.4604T>A (p.Leu1535Gln)
c.4316T>A (p.Leu1439Gln)
c.2882T>A (p.Leu961Gln)
c.2045T>A (p.Leu682Gln)
c.1676T>A (p.Leu559Gln)
n.3187T>A
n.644T>A
c.4724T>A (p.Leu1575Gln)
n.2721T>A
c.2092T>A
c.2006T>A
n.1390T>A
c.2066T>A (p.Leu689Gln)
c.2225T>A (p.Leu742Gln)
c.4355T>A (p.Leu1452Gln)
c.4475T>A (p.Leu1492Gln)
c.3554T>A (p.Leu1185Gln)
c.3374T>A (p.Leu1125Gln)
c.3134T>A (p.Leu1045Gln)
c.2753T>A (p.Leu918Gln)
c.1616T>A (p.Leu539Gln)
c.4685T>A (p.Leu1562Gln)
c.4586T>A (p.Leu1529Gln)
c.4556T>A (p.Leu1519Gln)
c.4526T>A (p.Leu1509Gln)
c.4397T>A (p.Leu1466Gln)
c.4376T>A (p.Leu1459Gln)
n.4671T>A
6g.157200949T>CCA366241290ARID1Bc.4565T>C (p.Leu1522Pro)
c.4634T>C (p.Leu1545Pro)
c.4853T>C (p.Leu1618Pro)
c.4604T>C (p.Leu1535Pro)
c.4316T>C (p.Leu1439Pro)
c.2882T>C (p.Leu961Pro)
c.2045T>C (p.Leu682Pro)
c.1676T>C (p.Leu559Pro)
n.3187T>C
n.644T>C
c.4724T>C (p.Leu1575Pro)
n.2721T>C
c.2092T>C
c.2006T>C
n.1390T>C
c.2066T>C (p.Leu689Pro)
c.2225T>C (p.Leu742Pro)
c.4355T>C (p.Leu1452Pro)
c.4475T>C (p.Leu1492Pro)
c.3554T>C (p.Leu1185Pro)
c.3374T>C (p.Leu1125Pro)
c.3134T>C (p.Leu1045Pro)
c.2753T>C (p.Leu918Pro)
c.1616T>C (p.Leu539Pro)
c.4685T>C (p.Leu1562Pro)
c.4586T>C (p.Leu1529Pro)
c.4556T>C (p.Leu1519Pro)
c.4526T>C (p.Leu1509Pro)
c.4397T>C (p.Leu1466Pro)
c.4376T>C (p.Leu1459Pro)
n.4671T>C
6g.157200949T>GCA366241291ARID1Bc.4565T>G (p.Leu1522Arg)
c.4634T>G (p.Leu1545Arg)
c.4853T>G (p.Leu1618Arg)
c.4604T>G (p.Leu1535Arg)
c.4316T>G (p.Leu1439Arg)
c.2882T>G (p.Leu961Arg)
c.2045T>G (p.Leu682Arg)
c.1676T>G (p.Leu559Arg)
n.3187T>G
n.644T>G
c.4724T>G (p.Leu1575Arg)
n.2721T>G
c.2092T>G
c.2006T>G
n.1390T>G
c.2066T>G (p.Leu689Arg)
c.2225T>G (p.Leu742Arg)
c.4355T>G (p.Leu1452Arg)
c.4475T>G (p.Leu1492Arg)
c.3554T>G (p.Leu1185Arg)
c.3374T>G (p.Leu1125Arg)
c.3134T>G (p.Leu1045Arg)
c.2753T>G (p.Leu918Arg)
c.1616T>G (p.Leu539Arg)
c.4685T>G (p.Leu1562Arg)
c.4586T>G (p.Leu1529Arg)
c.4556T>G (p.Leu1519Arg)
c.4526T>G (p.Leu1509Arg)
c.4397T>G (p.Leu1466Arg)
c.4376T>G (p.Leu1459Arg)
n.4671T>G
6g.157200950G>ACA452978043ARID1Bc.4566G>A (p.Leu1522=)
c.4635G>A (p.Leu1545=)
c.4854G>A (p.Leu1618=)
c.4605G>A (p.Leu1535=)
c.4317G>A (p.Leu1439=)
c.2883G>A (p.Leu961=)
c.2046G>A (p.Leu682=)
c.1677G>A (p.Leu559=)
n.3188G>A
n.645G>A
c.4725G>A (p.Leu1575=)
n.2722G>A
c.2093G>A
c.2007G>A
n.1391G>A
c.2067G>A (p.Leu689=)
c.2226G>A (p.Leu742=)
c.4356G>A (p.Leu1452=)
c.4476G>A (p.Leu1492=)
c.3555G>A (p.Leu1185=)
c.3375G>A (p.Leu1125=)
c.3135G>A (p.Leu1045=)
c.2754G>A (p.Leu918=)
c.1617G>A (p.Leu539=)
c.4686G>A (p.Leu1562=)
c.4587G>A (p.Leu1529=)
c.4557G>A (p.Leu1519=)
c.4527G>A (p.Leu1509=)
c.4398G>A (p.Leu1466=)
c.4377G>A (p.Leu1459=)
n.4672G>A
dbSNP gnomAD v2 gnomAD v4
6g.157200950G>CCA452978045ARID1Bc.4566G>C (p.Leu1522=)
c.4635G>C (p.Leu1545=)
c.4854G>C (p.Leu1618=)
c.4605G>C (p.Leu1535=)
c.4317G>C (p.Leu1439=)
c.2883G>C (p.Leu961=)
c.2046G>C (p.Leu682=)
c.1677G>C (p.Leu559=)
n.3188G>C
n.645G>C
c.4725G>C (p.Leu1575=)
n.2722G>C
c.2093G>C
c.2007G>C
n.1391G>C
c.2067G>C (p.Leu689=)
c.2226G>C (p.Leu742=)
c.4356G>C (p.Leu1452=)
c.4476G>C (p.Leu1492=)
c.3555G>C (p.Leu1185=)
c.3375G>C (p.Leu1125=)
c.3135G>C (p.Leu1045=)
c.2754G>C (p.Leu918=)
c.1617G>C (p.Leu539=)
c.4686G>C (p.Leu1562=)
c.4587G>C (p.Leu1529=)
c.4557G>C (p.Leu1519=)
c.4527G>C (p.Leu1509=)
c.4398G>C (p.Leu1466=)
c.4377G>C (p.Leu1459=)
n.4672G>C
6g.157200950G=CA1675543163ARID1Bc.4566G= (p.Leu1522=)
c.4635G= (p.Leu1545=)
c.4854G= (p.Leu1618=)
c.4605G= (p.Leu1535=)
c.4317G= (p.Leu1439=)
c.2883G= (p.Leu961=)
c.2046G= (p.Leu682=)
c.1677G= (p.Leu559=)
n.3188G=
n.645G=
c.4725G= (p.Leu1575=)
n.2722G=
c.2093G=
c.2007G=
n.1391G=
c.2067G= (p.Leu689=)
c.2226G= (p.Leu742=)
c.4356G= (p.Leu1452=)
c.4476G= (p.Leu1492=)
c.3555G= (p.Leu1185=)
c.3375G= (p.Leu1125=)
c.3135G= (p.Leu1045=)
c.2754G= (p.Leu918=)
c.1617G= (p.Leu539=)
c.4686G= (p.Leu1562=)
c.4587G= (p.Leu1529=)
c.4557G= (p.Leu1519=)
c.4527G= (p.Leu1509=)
c.4398G= (p.Leu1466=)
c.4377G= (p.Leu1459=)
n.4672G=
6g.157200950G>TCA452978046ARID1Bc.4566G>T (p.Leu1522=)
c.4635G>T (p.Leu1545=)
c.4854G>T (p.Leu1618=)
c.4605G>T (p.Leu1535=)
c.4317G>T (p.Leu1439=)
c.2883G>T (p.Leu961=)
c.2046G>T (p.Leu682=)
c.1677G>T (p.Leu559=)
n.3188G>T
n.645G>T
c.4725G>T (p.Leu1575=)
n.2722G>T
c.2093G>T
c.2007G>T
n.1391G>T
c.2067G>T (p.Leu689=)
c.2226G>T (p.Leu742=)
c.4356G>T (p.Leu1452=)
c.4476G>T (p.Leu1492=)
c.3555G>T (p.Leu1185=)
c.3375G>T (p.Leu1125=)
c.3135G>T (p.Leu1045=)
c.2754G>T (p.Leu918=)
c.1617G>T (p.Leu539=)
c.4686G>T (p.Leu1562=)
c.4587G>T (p.Leu1529=)
c.4557G>T (p.Leu1519=)
c.4527G>T (p.Leu1509=)
c.4398G>T (p.Leu1466=)
c.4377G>T (p.Leu1459=)
n.4672G>T
dbSNP
6g.157200951C>ACA366241292ARID1Bc.4567C>A (p.Gln1523Lys)
c.4636C>A (p.Gln1546Lys)
c.4855C>A (p.Gln1619Lys)
c.4606C>A (p.Gln1536Lys)
c.4318C>A (p.Gln1440Lys)
c.2884C>A (p.Gln962Lys)
c.2047C>A (p.Gln683Lys)
c.1678C>A (p.Gln560Lys)
n.3189C>A
n.646C>A
c.4726C>A (p.Gln1576Lys)
n.2723C>A
c.2094C>A
c.2008C>A
n.1392C>A
c.2068C>A (p.Gln690Lys)
c.2227C>A (p.Gln743Lys)
c.4357C>A (p.Gln1453Lys)
c.4477C>A (p.Gln1493Lys)
c.3556C>A (p.Gln1186Lys)
c.3376C>A (p.Gln1126Lys)
c.3136C>A (p.Gln1046Lys)
c.2755C>A (p.Gln919Lys)
c.1618C>A (p.Gln540Lys)
c.4687C>A (p.Gln1563Lys)
c.4588C>A (p.Gln1530Lys)
c.4558C>A (p.Gln1520Lys)
c.4528C>A (p.Gln1510Lys)
c.4399C>A (p.Gln1467Lys)
c.4378C>A (p.Gln1460Lys)
n.4673C>A
6g.157200951C=CA1675543164ARID1Bc.4567C= (p.Gln1523=)
c.4636C= (p.Gln1546=)
c.4855C= (p.Gln1619=)
c.4606C= (p.Gln1536=)
c.4318C= (p.Gln1440=)
c.2884C= (p.Gln962=)
c.2047C= (p.Gln683=)
c.1678C= (p.Gln560=)
n.3189C=
n.646C=
c.4726C= (p.Gln1576=)
n.2723C=
c.2094C=
c.2008C=
n.1392C=
c.2068C= (p.Gln690=)
c.2227C= (p.Gln743=)
c.4357C= (p.Gln1453=)
c.4477C= (p.Gln1493=)
c.3556C= (p.Gln1186=)
c.3376C= (p.Gln1126=)
c.3136C= (p.Gln1046=)
c.2755C= (p.Gln919=)
c.1618C= (p.Gln540=)
c.4687C= (p.Gln1563=)
c.4588C= (p.Gln1530=)
c.4558C= (p.Gln1520=)
c.4528C= (p.Gln1510=)
c.4399C= (p.Gln1467=)
c.4378C= (p.Gln1460=)
n.4673C=
6g.157200951C>GCA366241293ARID1Bc.4567C>G (p.Gln1523Glu)
c.4636C>G (p.Gln1546Glu)
c.4855C>G (p.Gln1619Glu)
c.4606C>G (p.Gln1536Glu)
c.4318C>G (p.Gln1440Glu)
c.2884C>G (p.Gln962Glu)
c.2047C>G (p.Gln683Glu)
c.1678C>G (p.Gln560Glu)
n.3189C>G
n.646C>G
c.4726C>G (p.Gln1576Glu)
n.2723C>G
c.2094C>G
c.2008C>G
n.1392C>G
c.2068C>G (p.Gln690Glu)
c.2227C>G (p.Gln743Glu)
c.4357C>G (p.Gln1453Glu)
c.4477C>G (p.Gln1493Glu)
c.3556C>G (p.Gln1186Glu)
c.3376C>G (p.Gln1126Glu)
c.3136C>G (p.Gln1046Glu)
c.2755C>G (p.Gln919Glu)
c.1618C>G (p.Gln540Glu)
c.4687C>G (p.Gln1563Glu)
c.4588C>G (p.Gln1530Glu)
c.4558C>G (p.Gln1520Glu)
c.4528C>G (p.Gln1510Glu)
c.4399C>G (p.Gln1467Glu)
c.4378C>G (p.Gln1460Glu)
n.4673C>G
6g.157200951C>TCA366241294ARID1Bc.4567C>T (p.Gln1523Ter)
c.4636C>T (p.Gln1546Ter)
c.4855C>T (p.Gln1619Ter)
c.4606C>T (p.Gln1536Ter)
c.4318C>T (p.Gln1440Ter)
c.2884C>T (p.Gln962Ter)
c.2047C>T (p.Gln683Ter)
c.1678C>T (p.Gln560Ter)
n.3189C>T
n.646C>T
c.4726C>T (p.Gln1576Ter)
n.2723C>T
c.2094C>T
c.2008C>T
n.1392C>T
c.2068C>T (p.Gln690Ter)
c.2227C>T (p.Gln743Ter)
c.4357C>T (p.Gln1453Ter)
c.4477C>T (p.Gln1493Ter)
c.3556C>T (p.Gln1186Ter)
c.3376C>T (p.Gln1126Ter)
c.3136C>T (p.Gln1046Ter)
c.2755C>T (p.Gln919Ter)
c.1618C>T (p.Gln540Ter)
c.4687C>T (p.Gln1563Ter)
c.4588C>T (p.Gln1530Ter)
c.4558C>T (p.Gln1520Ter)
c.4528C>T (p.Gln1510Ter)
c.4399C>T (p.Gln1467Ter)
c.4378C>T (p.Gln1460Ter)
n.4673C>T
dbSNP COSMIC COSMIC
6g.157200952A>CCA366241295ARID1Bc.4568A>C (p.Gln1523Pro)
c.4637A>C (p.Gln1546Pro)
c.4856A>C (p.Gln1619Pro)
c.4607A>C (p.Gln1536Pro)
c.4319A>C (p.Gln1440Pro)
c.2885A>C (p.Gln962Pro)
c.2048A>C (p.Gln683Pro)
c.1679A>C (p.Gln560Pro)
n.3190A>C
n.647A>C
c.4727A>C (p.Gln1576Pro)
n.2724A>C
c.2095A>C
c.2009A>C
n.1393A>C
c.2069A>C (p.Gln690Pro)
c.2228A>C (p.Gln743Pro)
c.4358A>C (p.Gln1453Pro)
c.4478A>C (p.Gln1493Pro)
c.3557A>C (p.Gln1186Pro)
c.3377A>C (p.Gln1126Pro)
c.3137A>C (p.Gln1046Pro)
c.2756A>C (p.Gln919Pro)
c.1619A>C (p.Gln540Pro)
c.4688A>C (p.Gln1563Pro)
c.4589A>C (p.Gln1530Pro)
c.4559A>C (p.Gln1520Pro)
c.4529A>C (p.Gln1510Pro)
c.4400A>C (p.Gln1467Pro)
c.4379A>C (p.Gln1460Pro)
n.4674A>C
6g.157200952A>GCA366241297ARID1Bc.4568A>G (p.Gln1523Arg)
c.4637A>G (p.Gln1546Arg)
c.4856A>G (p.Gln1619Arg)
c.4607A>G (p.Gln1536Arg)
c.4319A>G (p.Gln1440Arg)
c.2885A>G (p.Gln962Arg)
c.2048A>G (p.Gln683Arg)
c.1679A>G (p.Gln560Arg)
n.3190A>G
n.647A>G
c.4727A>G (p.Gln1576Arg)
n.2724A>G
c.2095A>G
c.2009A>G
n.1393A>G
c.2069A>G (p.Gln690Arg)
c.2228A>G (p.Gln743Arg)
c.4358A>G (p.Gln1453Arg)
c.4478A>G (p.Gln1493Arg)
c.3557A>G (p.Gln1186Arg)
c.3377A>G (p.Gln1126Arg)
c.3137A>G (p.Gln1046Arg)
c.2756A>G (p.Gln919Arg)
c.1619A>G (p.Gln540Arg)
c.4688A>G (p.Gln1563Arg)
c.4589A>G (p.Gln1530Arg)
c.4559A>G (p.Gln1520Arg)
c.4529A>G (p.Gln1510Arg)
c.4400A>G (p.Gln1467Arg)
c.4379A>G (p.Gln1460Arg)
n.4674A>G
6g.157200952A>TCA366241296ARID1Bc.4568A>T (p.Gln1523Leu)
c.4637A>T (p.Gln1546Leu)
c.4856A>T (p.Gln1619Leu)
c.4607A>T (p.Gln1536Leu)
c.4319A>T (p.Gln1440Leu)
c.2885A>T (p.Gln962Leu)
c.2048A>T (p.Gln683Leu)
c.1679A>T (p.Gln560Leu)
n.3190A>T
n.647A>T
c.4727A>T (p.Gln1576Leu)
n.2724A>T
c.2095A>T
c.2009A>T
n.1393A>T
c.2069A>T (p.Gln690Leu)
c.2228A>T (p.Gln743Leu)
c.4358A>T (p.Gln1453Leu)
c.4478A>T (p.Gln1493Leu)
c.3557A>T (p.Gln1186Leu)
c.3377A>T (p.Gln1126Leu)
c.3137A>T (p.Gln1046Leu)
c.2756A>T (p.Gln919Leu)
c.1619A>T (p.Gln540Leu)
c.4688A>T (p.Gln1563Leu)
c.4589A>T (p.Gln1530Leu)
c.4559A>T (p.Gln1520Leu)
c.4529A>T (p.Gln1510Leu)
c.4400A>T (p.Gln1467Leu)
c.4379A>T (p.Gln1460Leu)
n.4674A>T
6g.157200953G>ACA452978049ARID1Bc.4569G>A (p.Gln1523=)
c.4638G>A (p.Gln1546=)
c.4857G>A (p.Gln1619=)
c.4608G>A (p.Gln1536=)
c.4320G>A (p.Gln1440=)
c.2886G>A (p.Gln962=)
c.2049G>A (p.Gln683=)
c.1680G>A (p.Gln560=)
n.3191G>A
n.648G>A
c.4728G>A (p.Gln1576=)
n.2725G>A
c.2096G>A
c.2010G>A
n.1394G>A
c.2070G>A (p.Gln690=)
c.2229G>A (p.Gln743=)
c.4359G>A (p.Gln1453=)
c.4479G>A (p.Gln1493=)
c.3558G>A (p.Gln1186=)
c.3378G>A (p.Gln1126=)
c.3138G>A (p.Gln1046=)
c.2757G>A (p.Gln919=)
c.1620G>A (p.Gln540=)
c.4689G>A (p.Gln1563=)
c.4590G>A (p.Gln1530=)
c.4560G>A (p.Gln1520=)
c.4530G>A (p.Gln1510=)
c.4401G>A (p.Gln1467=)
c.4380G>A (p.Gln1460=)
n.4675G>A
dbSNP gnomAD v2 gnomAD v4
6g.157200953G>CCA366241298ARID1Bc.4569G>C (p.Gln1523His)
c.4638G>C (p.Gln1546His)
c.4857G>C (p.Gln1619His)
c.4608G>C (p.Gln1536His)
c.4320G>C (p.Gln1440His)
c.2886G>C (p.Gln962His)
c.2049G>C (p.Gln683His)
c.1680G>C (p.Gln560His)
n.3191G>C
n.648G>C
c.4728G>C (p.Gln1576His)
n.2725G>C
c.2096G>C
c.2010G>C
n.1394G>C
c.2070G>C (p.Gln690His)
c.2229G>C (p.Gln743His)
c.4359G>C (p.Gln1453His)
c.4479G>C (p.Gln1493His)
c.3558G>C (p.Gln1186His)
c.3378G>C (p.Gln1126His)
c.3138G>C (p.Gln1046His)
c.2757G>C (p.Gln919His)
c.1620G>C (p.Gln540His)
c.4689G>C (p.Gln1563His)
c.4590G>C (p.Gln1530His)
c.4560G>C (p.Gln1520His)
c.4530G>C (p.Gln1510His)
c.4401G>C (p.Gln1467His)
c.4380G>C (p.Gln1460His)
n.4675G>C
dbSNP
6g.157200953G=CA1675543165ARID1Bc.4569G= (p.Gln1523=)
c.4638G= (p.Gln1546=)
c.4857G= (p.Gln1619=)
c.4608G= (p.Gln1536=)
c.4320G= (p.Gln1440=)
c.2886G= (p.Gln962=)
c.2049G= (p.Gln683=)
c.1680G= (p.Gln560=)
n.3191G=
n.648G=
c.4728G= (p.Gln1576=)
n.2725G=
c.2096G=
c.2010G=
n.1394G=
c.2070G= (p.Gln690=)
c.2229G= (p.Gln743=)
c.4359G= (p.Gln1453=)
c.4479G= (p.Gln1493=)
c.3558G= (p.Gln1186=)
c.3378G= (p.Gln1126=)
c.3138G= (p.Gln1046=)
c.2757G= (p.Gln919=)
c.1620G= (p.Gln540=)
c.4689G= (p.Gln1563=)
c.4590G= (p.Gln1530=)
c.4560G= (p.Gln1520=)
c.4530G= (p.Gln1510=)
c.4401G= (p.Gln1467=)
c.4380G= (p.Gln1460=)
n.4675G=
6g.157200953G>TCA366241299ARID1Bc.4569G>T (p.Gln1523His)
c.4638G>T (p.Gln1546His)
c.4857G>T (p.Gln1619His)
c.4608G>T (p.Gln1536His)
c.4320G>T (p.Gln1440His)
c.2886G>T (p.Gln962His)
c.2049G>T (p.Gln683His)
c.1680G>T (p.Gln560His)
n.3191G>T
n.648G>T
c.4728G>T (p.Gln1576His)
n.2725G>T
c.2096G>T
c.2010G>T
n.1394G>T
c.2070G>T (p.Gln690His)
c.2229G>T (p.Gln743His)
c.4359G>T (p.Gln1453His)
c.4479G>T (p.Gln1493His)
c.3558G>T (p.Gln1186His)
c.3378G>T (p.Gln1126His)
c.3138G>T (p.Gln1046His)
c.2757G>T (p.Gln919His)
c.1620G>T (p.Gln540His)
c.4689G>T (p.Gln1563His)
c.4590G>T (p.Gln1530His)
c.4560G>T (p.Gln1520His)
c.4530G>T (p.Gln1510His)
c.4401G>T (p.Gln1467His)
c.4380G>T (p.Gln1460His)
n.4675G>T
6g.157200954T>ACA366241300ARID1Bc.4570T>A (p.Ser1524Thr)
c.4639T>A (p.Ser1547Thr)
c.4858T>A (p.Ser1620Thr)
c.4609T>A (p.Ser1537Thr)
c.4321T>A (p.Ser1441Thr)
c.2887T>A (p.Ser963Thr)
c.2050T>A (p.Ser684Thr)
c.1681T>A (p.Ser561Thr)
n.3192T>A
n.649T>A
c.4729T>A (p.Ser1577Thr)
n.2726T>A
c.2097T>A
c.2011T>A
n.1395T>A
c.2071T>A (p.Ser691Thr)
c.2230T>A (p.Ser744Thr)
c.4360T>A (p.Ser1454Thr)
c.4480T>A (p.Ser1494Thr)
c.3559T>A (p.Ser1187Thr)
c.3379T>A (p.Ser1127Thr)
c.3139T>A (p.Ser1047Thr)
c.2758T>A (p.Ser920Thr)
c.1621T>A (p.Ser541Thr)
c.4690T>A (p.Ser1564Thr)
c.4591T>A (p.Ser1531Thr)
c.4561T>A (p.Ser1521Thr)
c.4531T>A (p.Ser1511Thr)
c.4402T>A (p.Ser1468Thr)
c.4381T>A (p.Ser1461Thr)
n.4676T>A
6g.157200954T>CCA366241301ARID1Bc.4570T>C (p.Ser1524Pro)
c.4639T>C (p.Ser1547Pro)
c.4858T>C (p.Ser1620Pro)
c.4609T>C (p.Ser1537Pro)
c.4321T>C (p.Ser1441Pro)
c.2887T>C (p.Ser963Pro)
c.2050T>C (p.Ser684Pro)
c.1681T>C (p.Ser561Pro)
n.3192T>C
n.649T>C
c.4729T>C (p.Ser1577Pro)
n.2726T>C
c.2097T>C
c.2011T>C
n.1395T>C
c.2071T>C (p.Ser691Pro)
c.2230T>C (p.Ser744Pro)
c.4360T>C (p.Ser1454Pro)
c.4480T>C (p.Ser1494Pro)
c.3559T>C (p.Ser1187Pro)
c.3379T>C (p.Ser1127Pro)
c.3139T>C (p.Ser1047Pro)
c.2758T>C (p.Ser920Pro)
c.1621T>C (p.Ser541Pro)
c.4690T>C (p.Ser1564Pro)
c.4591T>C (p.Ser1531Pro)
c.4561T>C (p.Ser1521Pro)
c.4531T>C (p.Ser1511Pro)
c.4402T>C (p.Ser1468Pro)
c.4381T>C (p.Ser1461Pro)
n.4676T>C
6g.157200954T>GCA366241302ARID1Bc.4570T>G (p.Ser1524Ala)
c.4639T>G (p.Ser1547Ala)
c.4858T>G (p.Ser1620Ala)
c.4609T>G (p.Ser1537Ala)
c.4321T>G (p.Ser1441Ala)
c.2887T>G (p.Ser963Ala)
c.2050T>G (p.Ser684Ala)
c.1681T>G (p.Ser561Ala)
n.3192T>G
n.649T>G
c.4729T>G (p.Ser1577Ala)
n.2726T>G
c.2097T>G
c.2011T>G
n.1395T>G
c.2071T>G (p.Ser691Ala)
c.2230T>G (p.Ser744Ala)
c.4360T>G (p.Ser1454Ala)
c.4480T>G (p.Ser1494Ala)
c.3559T>G (p.Ser1187Ala)
c.3379T>G (p.Ser1127Ala)
c.3139T>G (p.Ser1047Ala)
c.2758T>G (p.Ser920Ala)
c.1621T>G (p.Ser541Ala)
c.4690T>G (p.Ser1564Ala)
c.4591T>G (p.Ser1531Ala)
c.4561T>G (p.Ser1521Ala)
c.4531T>G (p.Ser1511Ala)
c.4402T>G (p.Ser1468Ala)
c.4381T>G (p.Ser1461Ala)
n.4676T>G
6g.157200955C>ACA366241303ARID1Bc.4571C>A (p.Ser1524Ter)
c.4640C>A (p.Ser1547Ter)
c.4859C>A (p.Ser1620Ter)
c.4610C>A (p.Ser1537Ter)
c.4322C>A (p.Ser1441Ter)
c.2888C>A (p.Ser963Ter)
c.2051C>A (p.Ser684Ter)
c.1682C>A (p.Ser561Ter)
n.3193C>A
n.650C>A
c.4730C>A (p.Ser1577Ter)
n.2727C>A
c.2098C>A
c.2012C>A
n.1396C>A
c.2072C>A (p.Ser691Ter)
c.2231C>A (p.Ser744Ter)
c.4361C>A (p.Ser1454Ter)
c.4481C>A (p.Ser1494Ter)
c.3560C>A (p.Ser1187Ter)
c.3380C>A (p.Ser1127Ter)
c.3140C>A (p.Ser1047Ter)
c.2759C>A (p.Ser920Ter)
c.1622C>A (p.Ser541Ter)
c.4691C>A (p.Ser1564Ter)
c.4592C>A (p.Ser1531Ter)
c.4562C>A (p.Ser1521Ter)
c.4532C>A (p.Ser1511Ter)
c.4403C>A (p.Ser1468Ter)
c.4382C>A (p.Ser1461Ter)
n.4677C>A
dbSNP
6g.157200955C=CA1675543166ARID1Bc.4571C= (p.Ser1524=)
c.4640C= (p.Ser1547=)
c.4859C= (p.Ser1620=)
c.4610C= (p.Ser1537=)
c.4322C= (p.Ser1441=)
c.2888C= (p.Ser963=)
c.2051C= (p.Ser684=)
c.1682C= (p.Ser561=)
n.3193C=
n.650C=
c.4730C= (p.Ser1577=)
n.2727C=
c.2098C=
c.2012C=
n.1396C=
c.2072C= (p.Ser691=)
c.2231C= (p.Ser744=)
c.4361C= (p.Ser1454=)
c.4481C= (p.Ser1494=)
c.3560C= (p.Ser1187=)
c.3380C= (p.Ser1127=)
c.3140C= (p.Ser1047=)
c.2759C= (p.Ser920=)
c.1622C= (p.Ser541=)
c.4691C= (p.Ser1564=)
c.4592C= (p.Ser1531=)
c.4562C= (p.Ser1521=)
c.4532C= (p.Ser1511=)
c.4403C= (p.Ser1468=)
c.4382C= (p.Ser1461=)
n.4677C=
6g.157200955C>GCA366241304ARID1Bc.4571C>G (p.Ser1524Trp)
c.4640C>G (p.Ser1547Trp)
c.4859C>G (p.Ser1620Trp)
c.4610C>G (p.Ser1537Trp)
c.4322C>G (p.Ser1441Trp)
c.2888C>G (p.Ser963Trp)
c.2051C>G (p.Ser684Trp)
c.1682C>G (p.Ser561Trp)
n.3193C>G
n.650C>G
c.4730C>G (p.Ser1577Trp)
n.2727C>G
c.2098C>G
c.2012C>G
n.1396C>G
c.2072C>G (p.Ser691Trp)
c.2231C>G (p.Ser744Trp)
c.4361C>G (p.Ser1454Trp)
c.4481C>G (p.Ser1494Trp)
c.3560C>G (p.Ser1187Trp)
c.3380C>G (p.Ser1127Trp)
c.3140C>G (p.Ser1047Trp)
c.2759C>G (p.Ser920Trp)
c.1622C>G (p.Ser541Trp)
c.4691C>G (p.Ser1564Trp)
c.4592C>G (p.Ser1531Trp)
c.4562C>G (p.Ser1521Trp)
c.4532C>G (p.Ser1511Trp)
c.4403C>G (p.Ser1468Trp)
c.4382C>G (p.Ser1461Trp)
n.4677C>G
6g.157200955C>TCA366241305ARID1Bc.4571C>T (p.Ser1524Leu)
c.4640C>T (p.Ser1547Leu)
c.4859C>T (p.Ser1620Leu)
c.4610C>T (p.Ser1537Leu)
c.4322C>T (p.Ser1441Leu)
c.2888C>T (p.Ser963Leu)
c.2051C>T (p.Ser684Leu)
c.1682C>T (p.Ser561Leu)
n.3193C>T
n.650C>T
c.4730C>T (p.Ser1577Leu)
n.2727C>T
c.2098C>T
c.2012C>T
n.1396C>T
c.2072C>T (p.Ser691Leu)
c.2231C>T (p.Ser744Leu)
c.4361C>T (p.Ser1454Leu)
c.4481C>T (p.Ser1494Leu)
c.3560C>T (p.Ser1187Leu)
c.3380C>T (p.Ser1127Leu)
c.3140C>T (p.Ser1047Leu)
c.2759C>T (p.Ser920Leu)
c.1622C>T (p.Ser541Leu)
c.4691C>T (p.Ser1564Leu)
c.4592C>T (p.Ser1531Leu)
c.4562C>T (p.Ser1521Leu)
c.4532C>T (p.Ser1511Leu)
c.4403C>T (p.Ser1468Leu)
c.4382C>T (p.Ser1461Leu)
n.4677C>T
dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
6g.157200956G>ACA4067696ARID1Bc.4572G>A (p.Ser1524=)
c.4641G>A (p.Ser1547=)
c.4860G>A (p.Ser1620=)
c.4611G>A (p.Ser1537=)
c.4323G>A (p.Ser1441=)
c.2889G>A (p.Ser963=)
c.2052G>A (p.Ser684=)
c.1683G>A (p.Ser561=)
n.3194G>A
n.651G>A
c.4731G>A (p.Ser1577=)
n.2728G>A
c.2099G>A
c.2013G>A
n.1397G>A
c.2073G>A (p.Ser691=)
c.2232G>A (p.Ser744=)
c.4362G>A (p.Ser1454=)
c.4482G>A (p.Ser1494=)
c.3561G>A (p.Ser1187=)
c.3381G>A (p.Ser1127=)
c.3141G>A (p.Ser1047=)
c.2760G>A (p.Ser920=)
c.1623G>A (p.Ser541=)
c.4692G>A (p.Ser1564=)
c.4593G>A (p.Ser1531=)
c.4563G>A (p.Ser1521=)
c.4533G>A (p.Ser1511=)
c.4404G>A (p.Ser1468=)
c.4383G>A (p.Ser1461=)
n.4678G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.157200956G>CCA452978055ARID1Bc.4572G>C (p.Ser1524=)
c.4641G>C (p.Ser1547=)
c.4860G>C (p.Ser1620=)
c.4611G>C (p.Ser1537=)
c.4323G>C (p.Ser1441=)
c.2889G>C (p.Ser963=)
c.2052G>C (p.Ser684=)
c.1683G>C (p.Ser561=)
n.3194G>C
n.651G>C
c.4731G>C (p.Ser1577=)
n.2728G>C
c.2099G>C
c.2013G>C
n.1397G>C
c.2073G>C (p.Ser691=)
c.2232G>C (p.Ser744=)
c.4362G>C (p.Ser1454=)
c.4482G>C (p.Ser1494=)
c.3561G>C (p.Ser1187=)
c.3381G>C (p.Ser1127=)
c.3141G>C (p.Ser1047=)
c.2760G>C (p.Ser920=)
c.1623G>C (p.Ser541=)
c.4692G>C (p.Ser1564=)
c.4593G>C (p.Ser1531=)
c.4563G>C (p.Ser1521=)
c.4533G>C (p.Ser1511=)
c.4404G>C (p.Ser1468=)
c.4383G>C (p.Ser1461=)
n.4678G>C
6g.157200956G=CA1675543167ARID1Bc.4572G= (p.Ser1524=)
c.4641G= (p.Ser1547=)
c.4860G= (p.Ser1620=)
c.4611G= (p.Ser1537=)
c.4323G= (p.Ser1441=)
c.2889G= (p.Ser963=)
c.2052G= (p.Ser684=)
c.1683G= (p.Ser561=)
n.3194G=
n.651G=
c.4731G= (p.Ser1577=)
n.2728G=
c.2099G=
c.2013G=
n.1397G=
c.2073G= (p.Ser691=)
c.2232G= (p.Ser744=)
c.4362G= (p.Ser1454=)
c.4482G= (p.Ser1494=)
c.3561G= (p.Ser1187=)
c.3381G= (p.Ser1127=)
c.3141G= (p.Ser1047=)
c.2760G= (p.Ser920=)
c.1623G= (p.Ser541=)
c.4692G= (p.Ser1564=)
c.4593G= (p.Ser1531=)
c.4563G= (p.Ser1521=)
c.4533G= (p.Ser1511=)
c.4404G= (p.Ser1468=)
c.4383G= (p.Ser1461=)
n.4678G=
6g.157200956G>TCA452978053ARID1Bc.4572G>T (p.Ser1524=)
c.4641G>T (p.Ser1547=)
c.4860G>T (p.Ser1620=)
c.4611G>T (p.Ser1537=)
c.4323G>T (p.Ser1441=)
c.2889G>T (p.Ser963=)
c.2052G>T (p.Ser684=)
c.1683G>T (p.Ser561=)
n.3194G>T
n.651G>T
c.4731G>T (p.Ser1577=)
n.2728G>T
c.2099G>T
c.2013G>T
n.1397G>T
c.2073G>T (p.Ser691=)
c.2232G>T (p.Ser744=)
c.4362G>T (p.Ser1454=)
c.4482G>T (p.Ser1494=)
c.3561G>T (p.Ser1187=)
c.3381G>T (p.Ser1127=)
c.3141G>T (p.Ser1047=)
c.2760G>T (p.Ser920=)
c.1623G>T (p.Ser541=)
c.4692G>T (p.Ser1564=)
c.4593G>T (p.Ser1531=)
c.4563G>T (p.Ser1521=)
c.4533G>T (p.Ser1511=)
c.4404G>T (p.Ser1468=)
c.4383G>T (p.Ser1461=)
n.4678G>T
ClinVar gnomAD v4
6g.157200957T>ACA366241306ARID1Bc.4573T>A (p.Ser1525Thr)
c.4642T>A (p.Ser1548Thr)
c.4861T>A (p.Ser1621Thr)
c.4612T>A (p.Ser1538Thr)
c.4324T>A (p.Ser1442Thr)
c.2890T>A (p.Ser964Thr)
c.2053T>A (p.Ser685Thr)
c.1684T>A (p.Ser562Thr)
n.3195T>A
n.652T>A
c.4732T>A (p.Ser1578Thr)
n.2729T>A
c.2100T>A
c.2014T>A
n.1398T>A
c.2074T>A (p.Ser692Thr)
c.2233T>A (p.Ser745Thr)
c.4363T>A (p.Ser1455Thr)
c.4483T>A (p.Ser1495Thr)
c.3562T>A (p.Ser1188Thr)
c.3382T>A (p.Ser1128Thr)
c.3142T>A (p.Ser1048Thr)
c.2761T>A (p.Ser921Thr)
c.1624T>A (p.Ser542Thr)
c.4693T>A (p.Ser1565Thr)
c.4594T>A (p.Ser1532Thr)
c.4564T>A (p.Ser1522Thr)
c.4534T>A (p.Ser1512Thr)
c.4405T>A (p.Ser1469Thr)
c.4384T>A (p.Ser1462Thr)
n.4679T>A
dbSNP
6g.157200957T>CCA4067697ARID1Bc.4573T>C (p.Ser1525Pro)
c.4642T>C (p.Ser1548Pro)
c.4861T>C (p.Ser1621Pro)
c.4612T>C (p.Ser1538Pro)
c.4324T>C (p.Ser1442Pro)
c.2890T>C (p.Ser964Pro)
c.2053T>C (p.Ser685Pro)
c.1684T>C (p.Ser562Pro)
n.3195T>C
n.652T>C
c.4732T>C (p.Ser1578Pro)
n.2729T>C
c.2100T>C
c.2014T>C
n.1398T>C
c.2074T>C (p.Ser692Pro)
c.2233T>C (p.Ser745Pro)
c.4363T>C (p.Ser1455Pro)
c.4483T>C (p.Ser1495Pro)
c.3562T>C (p.Ser1188Pro)
c.3382T>C (p.Ser1128Pro)
c.3142T>C (p.Ser1048Pro)
c.2761T>C (p.Ser921Pro)
c.1624T>C (p.Ser542Pro)
c.4693T>C (p.Ser1565Pro)
c.4594T>C (p.Ser1532Pro)
c.4564T>C (p.Ser1522Pro)
c.4534T>C (p.Ser1512Pro)
c.4405T>C (p.Ser1469Pro)
c.4384T>C (p.Ser1462Pro)
n.4679T>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.157200957T>GCA366241307ARID1Bc.4573T>G (p.Ser1525Ala)
c.4642T>G (p.Ser1548Ala)
c.4861T>G (p.Ser1621Ala)
c.4612T>G (p.Ser1538Ala)
c.4324T>G (p.Ser1442Ala)
c.2890T>G (p.Ser964Ala)
c.2053T>G (p.Ser685Ala)
c.1684T>G (p.Ser562Ala)
n.3195T>G
n.652T>G
c.4732T>G (p.Ser1578Ala)
n.2729T>G
c.2100T>G
c.2014T>G
n.1398T>G
c.2074T>G (p.Ser692Ala)
c.2233T>G (p.Ser745Ala)
c.4363T>G (p.Ser1455Ala)
c.4483T>G (p.Ser1495Ala)
c.3562T>G (p.Ser1188Ala)
c.3382T>G (p.Ser1128Ala)
c.3142T>G (p.Ser1048Ala)
c.2761T>G (p.Ser921Ala)
c.1624T>G (p.Ser542Ala)
c.4693T>G (p.Ser1565Ala)
c.4594T>G (p.Ser1532Ala)
c.4564T>G (p.Ser1522Ala)
c.4534T>G (p.Ser1512Ala)
c.4405T>G (p.Ser1469Ala)
c.4384T>G (p.Ser1462Ala)
n.4679T>G
6g.157200957T=CA1675543168ARID1Bc.4573T= (p.Ser1525=)
c.4642T= (p.Ser1548=)
c.4861T= (p.Ser1621=)
c.4612T= (p.Ser1538=)
c.4324T= (p.Ser1442=)
c.2890T= (p.Ser964=)
c.2053T= (p.Ser685=)
c.1684T= (p.Ser562=)
n.3195T=
n.652T=
c.4732T= (p.Ser1578=)
n.2729T=
c.2100T=
c.2014T=
n.1398T=
c.2074T= (p.Ser692=)
c.2233T= (p.Ser745=)
c.4363T= (p.Ser1455=)
c.4483T= (p.Ser1495=)
c.3562T= (p.Ser1188=)
c.3382T= (p.Ser1128=)
c.3142T= (p.Ser1048=)
c.2761T= (p.Ser921=)
c.1624T= (p.Ser542=)
c.4693T= (p.Ser1565=)
c.4594T= (p.Ser1532=)
c.4564T= (p.Ser1522=)
c.4534T= (p.Ser1512=)
c.4405T= (p.Ser1469=)
c.4384T= (p.Ser1462=)
n.4679T=
6g.157200957_157200958delinsTCCA1675543169ARID1Bc.4573_4574delinsTC (p.Ser1525=)
c.4642_4643delinsTC (p.Ser1548=)
c.4861_4862delinsTC (p.Ser1621=)
c.4612_4613delinsTC (p.Ser1538=)
c.4324_4325delinsTC (p.Ser1442=)
c.2890_2891delinsTC (p.Ser964=)
c.2053_2054delinsTC (p.Ser685=)
c.1684_1685delinsTC (p.Ser562=)
n.3195_3196delinsTC
n.652_653delinsTC
c.4732_4733delinsTC (p.Ser1578=)
n.2729_2730delinsTC
c.2100_2101delinsTC
c.2014_2015delinsTC
n.1398_1399delinsTC
c.2074_2075delinsTC (p.Ser692=)
c.2233_2234delinsTC (p.Ser745=)
c.4363_4364delinsTC (p.Ser1455=)
c.4483_4484delinsTC (p.Ser1495=)
c.3562_3563delinsTC (p.Ser1188=)
c.3382_3383delinsTC (p.Ser1128=)
c.3142_3143delinsTC (p.Ser1048=)
c.2761_2762delinsTC (p.Ser921=)
c.1624_1625delinsTC (p.Ser542=)
c.4693_4694delinsTC (p.Ser1565=)
c.4594_4595delinsTC (p.Ser1532=)
c.4564_4565delinsTC (p.Ser1522=)
c.4534_4535delinsTC (p.Ser1512=)
c.4405_4406delinsTC (p.Ser1469=)
c.4384_4385delinsTC (p.Ser1462=)
n.4679_4680delinsTC
6g.157200958C>ACA366241308ARID1Bc.4574C>A (p.Ser1525Tyr)
c.4643C>A (p.Ser1548Tyr)
c.4862C>A (p.Ser1621Tyr)
c.4613C>A (p.Ser1538Tyr)
c.4325C>A (p.Ser1442Tyr)
c.2891C>A (p.Ser964Tyr)
c.2054C>A (p.Ser685Tyr)
c.1685C>A (p.Ser562Tyr)
n.3196C>A
n.653C>A
c.4733C>A (p.Ser1578Tyr)
n.2730C>A
c.2101C>A
c.2015C>A
n.1399C>A
c.2075C>A (p.Ser692Tyr)
c.2234C>A (p.Ser745Tyr)
c.4364C>A (p.Ser1455Tyr)
c.4484C>A (p.Ser1495Tyr)
c.3563C>A (p.Ser1188Tyr)
c.3383C>A (p.Ser1128Tyr)
c.3143C>A (p.Ser1048Tyr)
c.2762C>A (p.Ser921Tyr)
c.1625C>A (p.Ser542Tyr)
c.4694C>A (p.Ser1565Tyr)
c.4595C>A (p.Ser1532Tyr)
c.4565C>A (p.Ser1522Tyr)
c.4535C>A (p.Ser1512Tyr)
c.4406C>A (p.Ser1469Tyr)
c.4385C>A (p.Ser1462Tyr)
n.4680C>A
6g.157200958C>GCA366241310ARID1Bc.4574C>G (p.Ser1525Cys)
c.4643C>G (p.Ser1548Cys)
c.4862C>G (p.Ser1621Cys)
c.4613C>G (p.Ser1538Cys)
c.4325C>G (p.Ser1442Cys)
c.2891C>G (p.Ser964Cys)
c.2054C>G (p.Ser685Cys)
c.1685C>G (p.Ser562Cys)
n.3196C>G
n.653C>G
c.4733C>G (p.Ser1578Cys)
n.2730C>G
c.2101C>G
c.2015C>G
n.1399C>G
c.2075C>G (p.Ser692Cys)
c.2234C>G (p.Ser745Cys)
c.4364C>G (p.Ser1455Cys)
c.4484C>G (p.Ser1495Cys)
c.3563C>G (p.Ser1188Cys)
c.3383C>G (p.Ser1128Cys)
c.3143C>G (p.Ser1048Cys)
c.2762C>G (p.Ser921Cys)
c.1625C>G (p.Ser542Cys)
c.4694C>G (p.Ser1565Cys)
c.4595C>G (p.Ser1532Cys)
c.4565C>G (p.Ser1522Cys)
c.4535C>G (p.Ser1512Cys)
c.4406C>G (p.Ser1469Cys)
c.4385C>G (p.Ser1462Cys)
n.4680C>G
dbSNP
6g.157200958C>TCA366241309ARID1Bc.4574C>T (p.Ser1525Phe)
c.4643C>T (p.Ser1548Phe)
c.4862C>T (p.Ser1621Phe)
c.4613C>T (p.Ser1538Phe)
c.4325C>T (p.Ser1442Phe)
c.2891C>T (p.Ser964Phe)
c.2054C>T (p.Ser685Phe)
c.1685C>T (p.Ser562Phe)
n.3196C>T
n.653C>T
c.4733C>T (p.Ser1578Phe)
n.2730C>T
c.2101C>T
c.2015C>T
n.1399C>T
c.2075C>T (p.Ser692Phe)
c.2234C>T (p.Ser745Phe)
c.4364C>T (p.Ser1455Phe)
c.4484C>T (p.Ser1495Phe)
c.3563C>T (p.Ser1188Phe)
c.3383C>T (p.Ser1128Phe)
c.3143C>T (p.Ser1048Phe)
c.2762C>T (p.Ser921Phe)
c.1625C>T (p.Ser542Phe)
c.4694C>T (p.Ser1565Phe)
c.4595C>T (p.Ser1532Phe)
c.4565C>T (p.Ser1522Phe)
c.4535C>T (p.Ser1512Phe)
c.4406C>T (p.Ser1469Phe)
c.4385C>T (p.Ser1462Phe)
n.4680C>T
dbSNP gnomAD v4
6g.157200959delCA658821556ARID1Bc.4575del (p.Ser1526ProfsTer?)
c.4644del (p.Ser1549ProfsTer?)
c.4863del (p.Ser1622ProfsTer?)
c.4614del (p.Ser1539ProfsTer?)
c.4326del (p.Ser1443ProfsTer?)
c.2892del (p.Ser965ProfsTer?)
c.2055del (p.Ser686ProfsTer?)
c.1686del (p.Ser563ProfsTer?)
n.3197del
n.654del
c.4734del (p.Ser1579ProfsTer?)
n.2731del
c.2102del
c.2016del
n.1400del
c.2076del (p.Ser693ProfsTer?)
c.2235del (p.Ser746ProfsTer?)
c.4365del (p.Ser1456ProfsTer?)
c.4485del (p.Ser1496ProfsTer?)
c.3564del (p.Ser1189ProfsTer?)
c.3384del (p.Ser1129ProfsTer?)
c.3144del (p.Ser1049ProfsTer?)
c.2763del (p.Ser922ProfsTer?)
c.1626del (p.Ser543ProfsTer?)
c.4695del (p.Ser1566ProfsTer?)
c.4596del (p.Ser1533ProfsTer?)
c.4566del (p.Ser1523ProfsTer?)
c.4536del (p.Ser1513ProfsTer?)
c.4407del (p.Ser1470ProfsTer?)
c.4386del (p.Ser1463ProfsTer?)
n.4681del
ClinVar dbSNP
6g.157200959C>ACA452978059ARID1Bc.4575C>A (p.Ser1525=)
c.4644C>A (p.Ser1548=)
c.4863C>A (p.Ser1621=)
c.4614C>A (p.Ser1538=)
c.4326C>A (p.Ser1442=)
c.2892C>A (p.Ser964=)
c.2055C>A (p.Ser685=)
c.1686C>A (p.Ser562=)
n.3197C>A
n.654C>A
c.4734C>A (p.Ser1578=)
n.2731C>A
c.2102C>A
c.2016C>A
n.1400C>A
c.2076C>A (p.Ser692=)
c.2235C>A (p.Ser745=)
c.4365C>A (p.Ser1455=)
c.4485C>A (p.Ser1495=)
c.3564C>A (p.Ser1188=)
c.3384C>A (p.Ser1128=)
c.3144C>A (p.Ser1048=)
c.2763C>A (p.Ser921=)
c.1626C>A (p.Ser542=)
c.4695C>A (p.Ser1565=)
c.4596C>A (p.Ser1532=)
c.4566C>A (p.Ser1522=)
c.4536C>A (p.Ser1512=)
c.4407C>A (p.Ser1469=)
c.4386C>A (p.Ser1462=)
n.4681C>A
dbSNP
6g.157200959C=CA1675543170ARID1Bc.4575C= (p.Ser1525=)
c.4644C= (p.Ser1548=)
c.4863C= (p.Ser1621=)
c.4614C= (p.Ser1538=)
c.4326C= (p.Ser1442=)
c.2892C= (p.Ser964=)
c.2055C= (p.Ser685=)
c.1686C= (p.Ser562=)
n.3197C=
n.654C=
c.4734C= (p.Ser1578=)
n.2731C=
c.2102C=
c.2016C=
n.1400C=
c.2076C= (p.Ser692=)
c.2235C= (p.Ser745=)
c.4365C= (p.Ser1455=)
c.4485C= (p.Ser1495=)
c.3564C= (p.Ser1188=)
c.3384C= (p.Ser1128=)
c.3144C= (p.Ser1048=)
c.2763C= (p.Ser921=)
c.1626C= (p.Ser542=)
c.4695C= (p.Ser1565=)
c.4596C= (p.Ser1532=)
c.4566C= (p.Ser1522=)
c.4536C= (p.Ser1512=)
c.4407C= (p.Ser1469=)
c.4386C= (p.Ser1462=)
n.4681C=
6g.157200959C>GCA452978060ARID1Bc.4575C>G (p.Ser1525=)
c.4644C>G (p.Ser1548=)
c.4863C>G (p.Ser1621=)
c.4614C>G (p.Ser1538=)
c.4326C>G (p.Ser1442=)
c.2892C>G (p.Ser964=)
c.2055C>G (p.Ser685=)
c.1686C>G (p.Ser562=)
n.3197C>G
n.654C>G
c.4734C>G (p.Ser1578=)
n.2731C>G
c.2102C>G
c.2016C>G
n.1400C>G
c.2076C>G (p.Ser692=)
c.2235C>G (p.Ser745=)
c.4365C>G (p.Ser1455=)
c.4485C>G (p.Ser1495=)
c.3564C>G (p.Ser1188=)
c.3384C>G (p.Ser1128=)
c.3144C>G (p.Ser1048=)
c.2763C>G (p.Ser921=)
c.1626C>G (p.Ser542=)
c.4695C>G (p.Ser1565=)
c.4596C>G (p.Ser1532=)
c.4566C>G (p.Ser1522=)
c.4536C>G (p.Ser1512=)
c.4407C>G (p.Ser1469=)
c.4386C>G (p.Ser1462=)
n.4681C>G
6g.157200959C>TCA452978061ARID1Bc.4575C>T (p.Ser1525=)
c.4644C>T (p.Ser1548=)
c.4863C>T (p.Ser1621=)
c.4614C>T (p.Ser1538=)
c.4326C>T (p.Ser1442=)
c.2892C>T (p.Ser964=)
c.2055C>T (p.Ser685=)
c.1686C>T (p.Ser562=)
n.3197C>T
n.654C>T
c.4734C>T (p.Ser1578=)
n.2731C>T
c.2102C>T
c.2016C>T
n.1400C>T
c.2076C>T (p.Ser692=)
c.2235C>T (p.Ser745=)
c.4365C>T (p.Ser1455=)
c.4485C>T (p.Ser1495=)
c.3564C>T (p.Ser1188=)
c.3384C>T (p.Ser1128=)
c.3144C>T (p.Ser1048=)
c.2763C>T (p.Ser921=)
c.1626C>T (p.Ser542=)
c.4695C>T (p.Ser1565=)
c.4596C>T (p.Ser1532=)
c.4566C>T (p.Ser1522=)
c.4536C>T (p.Ser1512=)
c.4407C>T (p.Ser1469=)
c.4386C>T (p.Ser1462=)
n.4681C>T
dbSNP gnomAD v2 gnomAD v4
6g.157200960T>ACA366241311ARID1Bc.4576T>A (p.Ser1526Thr)
c.4645T>A (p.Ser1549Thr)
c.4864T>A (p.Ser1622Thr)
c.4615T>A (p.Ser1539Thr)
c.4327T>A (p.Ser1443Thr)
c.2893T>A (p.Ser965Thr)
c.2056T>A (p.Ser686Thr)
c.1687T>A (p.Ser563Thr)
n.3198T>A
n.655T>A
c.4735T>A (p.Ser1579Thr)
n.2732T>A
c.2103T>A
c.2017T>A
n.1401T>A
c.2077T>A (p.Ser693Thr)
c.2236T>A (p.Ser746Thr)
c.4366T>A (p.Ser1456Thr)
c.4486T>A (p.Ser1496Thr)
c.3565T>A (p.Ser1189Thr)
c.3385T>A (p.Ser1129Thr)
c.3145T>A (p.Ser1049Thr)
c.2764T>A (p.Ser922Thr)
c.1627T>A (p.Ser543Thr)
c.4696T>A (p.Ser1566Thr)
c.4597T>A (p.Ser1533Thr)
c.4567T>A (p.Ser1523Thr)
c.4537T>A (p.Ser1513Thr)
c.4408T>A (p.Ser1470Thr)
c.4387T>A (p.Ser1463Thr)
n.4682T>A
6g.157200960T>CCA366241312ARID1Bc.4576T>C (p.Ser1526Pro)
c.4645T>C (p.Ser1549Pro)
c.4864T>C (p.Ser1622Pro)
c.4615T>C (p.Ser1539Pro)
c.4327T>C (p.Ser1443Pro)
c.2893T>C (p.Ser965Pro)
c.2056T>C (p.Ser686Pro)
c.1687T>C (p.Ser563Pro)
n.3198T>C
n.655T>C
c.4735T>C (p.Ser1579Pro)
n.2732T>C
c.2103T>C
c.2017T>C
n.1401T>C
c.2077T>C (p.Ser693Pro)
c.2236T>C (p.Ser746Pro)
c.4366T>C (p.Ser1456Pro)
c.4486T>C (p.Ser1496Pro)
c.3565T>C (p.Ser1189Pro)
c.3385T>C (p.Ser1129Pro)
c.3145T>C (p.Ser1049Pro)
c.2764T>C (p.Ser922Pro)
c.1627T>C (p.Ser543Pro)
c.4696T>C (p.Ser1566Pro)
c.4597T>C (p.Ser1533Pro)
c.4567T>C (p.Ser1523Pro)
c.4537T>C (p.Ser1513Pro)
c.4408T>C (p.Ser1470Pro)
c.4387T>C (p.Ser1463Pro)
n.4682T>C
6g.157200960T>GCA366241313ARID1Bc.4576T>G (p.Ser1526Ala)
c.4645T>G (p.Ser1549Ala)
c.4864T>G (p.Ser1622Ala)
c.4615T>G (p.Ser1539Ala)
c.4327T>G (p.Ser1443Ala)
c.2893T>G (p.Ser965Ala)
c.2056T>G (p.Ser686Ala)
c.1687T>G (p.Ser563Ala)
n.3198T>G
n.655T>G
c.4735T>G (p.Ser1579Ala)
n.2732T>G
c.2103T>G
c.2017T>G
n.1401T>G
c.2077T>G (p.Ser693Ala)
c.2236T>G (p.Ser746Ala)
c.4366T>G (p.Ser1456Ala)
c.4486T>G (p.Ser1496Ala)
c.3565T>G (p.Ser1189Ala)
c.3385T>G (p.Ser1129Ala)
c.3145T>G (p.Ser1049Ala)
c.2764T>G (p.Ser922Ala)
c.1627T>G (p.Ser543Ala)
c.4696T>G (p.Ser1566Ala)
c.4597T>G (p.Ser1533Ala)
c.4567T>G (p.Ser1523Ala)
c.4537T>G (p.Ser1513Ala)
c.4408T>G (p.Ser1470Ala)
c.4387T>G (p.Ser1463Ala)
n.4682T>G
6g.157200961C>ACA366241314ARID1Bc.4577C>A (p.Ser1526Tyr)
c.4646C>A (p.Ser1549Tyr)
c.4865C>A (p.Ser1622Tyr)
c.4616C>A (p.Ser1539Tyr)
c.4328C>A (p.Ser1443Tyr)
c.2894C>A (p.Ser965Tyr)
c.2057C>A (p.Ser686Tyr)
c.1688C>A (p.Ser563Tyr)
n.3199C>A
n.656C>A
c.4736C>A (p.Ser1579Tyr)
n.2733C>A
c.2104C>A
c.2018C>A
n.1402C>A
c.2078C>A (p.Ser693Tyr)
c.2237C>A (p.Ser746Tyr)
c.4367C>A (p.Ser1456Tyr)
c.4487C>A (p.Ser1496Tyr)
c.3566C>A (p.Ser1189Tyr)
c.3386C>A (p.Ser1129Tyr)
c.3146C>A (p.Ser1049Tyr)
c.2765C>A (p.Ser922Tyr)
c.1628C>A (p.Ser543Tyr)
c.4697C>A (p.Ser1566Tyr)
c.4598C>A (p.Ser1533Tyr)
c.4568C>A (p.Ser1523Tyr)
c.4538C>A (p.Ser1513Tyr)
c.4409C>A (p.Ser1470Tyr)
c.4388C>A (p.Ser1463Tyr)
n.4683C>A
6g.157200961C>GCA366241315ARID1Bc.4577C>G (p.Ser1526Cys)
c.4646C>G (p.Ser1549Cys)
c.4865C>G (p.Ser1622Cys)
c.4616C>G (p.Ser1539Cys)
c.4328C>G (p.Ser1443Cys)
c.2894C>G (p.Ser965Cys)
c.2057C>G (p.Ser686Cys)
c.1688C>G (p.Ser563Cys)
n.3199C>G
n.656C>G
c.4736C>G (p.Ser1579Cys)
n.2733C>G
c.2104C>G
c.2018C>G
n.1402C>G
c.2078C>G (p.Ser693Cys)
c.2237C>G (p.Ser746Cys)
c.4367C>G (p.Ser1456Cys)
c.4487C>G (p.Ser1496Cys)
c.3566C>G (p.Ser1189Cys)
c.3386C>G (p.Ser1129Cys)
c.3146C>G (p.Ser1049Cys)
c.2765C>G (p.Ser922Cys)
c.1628C>G (p.Ser543Cys)
c.4697C>G (p.Ser1566Cys)
c.4598C>G (p.Ser1533Cys)
c.4568C>G (p.Ser1523Cys)
c.4538C>G (p.Ser1513Cys)
c.4409C>G (p.Ser1470Cys)
c.4388C>G (p.Ser1463Cys)
n.4683C>G
6g.157200961C>TCA366241316ARID1Bc.4577C>T (p.Ser1526Phe)
c.4646C>T (p.Ser1549Phe)
c.4865C>T (p.Ser1622Phe)
c.4616C>T (p.Ser1539Phe)
c.4328C>T (p.Ser1443Phe)
c.2894C>T (p.Ser965Phe)
c.2057C>T (p.Ser686Phe)
c.1688C>T (p.Ser563Phe)
n.3199C>T
n.656C>T
c.4736C>T (p.Ser1579Phe)
n.2733C>T
c.2104C>T
c.2018C>T
n.1402C>T
c.2078C>T (p.Ser693Phe)
c.2237C>T (p.Ser746Phe)
c.4367C>T (p.Ser1456Phe)
c.4487C>T (p.Ser1496Phe)
c.3566C>T (p.Ser1189Phe)
c.3386C>T (p.Ser1129Phe)
c.3146C>T (p.Ser1049Phe)
c.2765C>T (p.Ser922Phe)
c.1628C>T (p.Ser543Phe)
c.4697C>T (p.Ser1566Phe)
c.4598C>T (p.Ser1533Phe)
c.4568C>T (p.Ser1523Phe)
c.4538C>T (p.Ser1513Phe)
c.4409C>T (p.Ser1470Phe)
c.4388C>T (p.Ser1463Phe)
n.4683C>T
6g.157200962delCA2713416290ARID1Bc.4578del (p.Ser1527ValfsTer?)
c.4647del (p.Ser1550ValfsTer?)
c.4866del (p.Ser1623ValfsTer?)
c.4617del (p.Ser1540ValfsTer?)
c.4329del (p.Ser1444ValfsTer?)
c.2895del (p.Ser966ValfsTer?)
c.2058del (p.Ser687ValfsTer?)
c.1689del (p.Ser564ValfsTer?)
n.3200del
n.657del
c.4737del (p.Ser1580ValfsTer?)
n.2734del
c.2105del
c.2019del
n.1403del
c.2079del (p.Ser694ValfsTer?)
c.2238del (p.Ser747ValfsTer?)
c.4368del (p.Ser1457ValfsTer?)
c.4488del (p.Ser1497ValfsTer?)
c.3567del (p.Ser1190ValfsTer?)
c.3387del (p.Ser1130ValfsTer?)
c.3147del (p.Ser1050ValfsTer?)
c.2766del (p.Ser923ValfsTer?)
c.1629del (p.Ser544ValfsTer?)
c.4698del (p.Ser1567ValfsTer?)
c.4599del (p.Ser1534ValfsTer?)
c.4569del (p.Ser1524ValfsTer?)
c.4539del (p.Ser1514ValfsTer?)
c.4410del (p.Ser1471ValfsTer?)
c.4389del (p.Ser1464ValfsTer?)
n.4684del
dbSNP
6g.157200962C>ACA452978065ARID1Bc.4578C>A (p.Ser1526=)
c.4647C>A (p.Ser1549=)
c.4866C>A (p.Ser1622=)
c.4617C>A (p.Ser1539=)
c.4329C>A (p.Ser1443=)
c.2895C>A (p.Ser965=)
c.2058C>A (p.Ser686=)
c.1689C>A (p.Ser563=)
n.3200C>A
n.657C>A
c.4737C>A (p.Ser1579=)
n.2734C>A
c.2105C>A
c.2019C>A
n.1403C>A
c.2079C>A (p.Ser693=)
c.2238C>A (p.Ser746=)
c.4368C>A (p.Ser1456=)
c.4488C>A (p.Ser1496=)
c.3567C>A (p.Ser1189=)
c.3387C>A (p.Ser1129=)
c.3147C>A (p.Ser1049=)
c.2766C>A (p.Ser922=)
c.1629C>A (p.Ser543=)
c.4698C>A (p.Ser1566=)
c.4599C>A (p.Ser1533=)
c.4569C>A (p.Ser1523=)
c.4539C>A (p.Ser1513=)
c.4410C>A (p.Ser1470=)
c.4389C>A (p.Ser1463=)
n.4684C>A
dbSNP gnomAD v2 gnomAD v4
6g.157200962C=CA1675543171ARID1Bc.4578C= (p.Ser1526=)
c.4647C= (p.Ser1549=)
c.4866C= (p.Ser1622=)
c.4617C= (p.Ser1539=)
c.4329C= (p.Ser1443=)
c.2895C= (p.Ser965=)
c.2058C= (p.Ser686=)
c.1689C= (p.Ser563=)
n.3200C=
n.657C=
c.4737C= (p.Ser1579=)
n.2734C=
c.2105C=
c.2019C=
n.1403C=
c.2079C= (p.Ser693=)
c.2238C= (p.Ser746=)
c.4368C= (p.Ser1456=)
c.4488C= (p.Ser1496=)
c.3567C= (p.Ser1189=)
c.3387C= (p.Ser1129=)
c.3147C= (p.Ser1049=)
c.2766C= (p.Ser922=)
c.1629C= (p.Ser543=)
c.4698C= (p.Ser1566=)
c.4599C= (p.Ser1533=)
c.4569C= (p.Ser1523=)
c.4539C= (p.Ser1513=)
c.4410C= (p.Ser1470=)
c.4389C= (p.Ser1463=)
n.4684C=
6g.157200962C>GCA452978067ARID1Bc.4578C>G (p.Ser1526=)
c.4647C>G (p.Ser1549=)
c.4866C>G (p.Ser1622=)
c.4617C>G (p.Ser1539=)
c.4329C>G (p.Ser1443=)
c.2895C>G (p.Ser965=)
c.2058C>G (p.Ser686=)
c.1689C>G (p.Ser563=)
n.3200C>G
n.657C>G
c.4737C>G (p.Ser1579=)
n.2734C>G
c.2105C>G
c.2019C>G
n.1403C>G
c.2079C>G (p.Ser693=)
c.2238C>G (p.Ser746=)
c.4368C>G (p.Ser1456=)
c.4488C>G (p.Ser1496=)
c.3567C>G (p.Ser1189=)
c.3387C>G (p.Ser1129=)
c.3147C>G (p.Ser1049=)
c.2766C>G (p.Ser922=)
c.1629C>G (p.Ser543=)
c.4698C>G (p.Ser1566=)
c.4599C>G (p.Ser1533=)
c.4569C>G (p.Ser1523=)
c.4539C>G (p.Ser1513=)
c.4410C>G (p.Ser1470=)
c.4389C>G (p.Ser1463=)
n.4684C>G
dbSNP
6g.157200962C>TCA4067698ARID1Bc.4578C>T (p.Ser1526=)
c.4647C>T (p.Ser1549=)
c.4866C>T (p.Ser1622=)
c.4617C>T (p.Ser1539=)
c.4329C>T (p.Ser1443=)
c.2895C>T (p.Ser965=)
c.2058C>T (p.Ser686=)
c.1689C>T (p.Ser563=)
n.3200C>T
n.657C>T
c.4737C>T (p.Ser1579=)
n.2734C>T
c.2105C>T
c.2019C>T
n.1403C>T
c.2079C>T (p.Ser693=)
c.2238C>T (p.Ser746=)
c.4368C>T (p.Ser1456=)
c.4488C>T (p.Ser1496=)
c.3567C>T (p.Ser1189=)
c.3387C>T (p.Ser1129=)
c.3147C>T (p.Ser1049=)
c.2766C>T (p.Ser922=)
c.1629C>T (p.Ser543=)
c.4698C>T (p.Ser1566=)
c.4599C>T (p.Ser1533=)
c.4569C>T (p.Ser1523=)
c.4539C>T (p.Ser1513=)
c.4410C>T (p.Ser1470=)
c.4389C>T (p.Ser1463=)
n.4684C>T
dbSNP ExAC gnomAD v2 gnomAD v4
6g.157200963A=CA1675543172ARID1Bc.4579A= (p.Ser1527=)
c.4648A= (p.Ser1550=)
c.4867A= (p.Ser1623=)
c.4618A= (p.Ser1540=)
c.4330A= (p.Ser1444=)
c.2896A= (p.Ser966=)
c.2059A= (p.Ser687=)
c.1690A= (p.Ser564=)
n.3201A=
n.658A=
c.4738A= (p.Ser1580=)
n.2735A=
c.2106A=
c.2020A=
n.1404A=
c.2080A= (p.Ser694=)
c.2239A= (p.Ser747=)
c.4369A= (p.Ser1457=)
c.4489A= (p.Ser1497=)
c.3568A= (p.Ser1190=)
c.3388A= (p.Ser1130=)
c.3148A= (p.Ser1050=)
c.2767A= (p.Ser923=)
c.1630A= (p.Ser544=)
c.4699A= (p.Ser1567=)
c.4600A= (p.Ser1534=)
c.4570A= (p.Ser1524=)
c.4540A= (p.Ser1514=)
c.4411A= (p.Ser1471=)
c.4390A= (p.Ser1464=)
n.4685A=
6g.157200963A>CCA366241317ARID1Bc.4579A>C (p.Ser1527Arg)
c.4648A>C (p.Ser1550Arg)
c.4867A>C (p.Ser1623Arg)
c.4618A>C (p.Ser1540Arg)
c.4330A>C (p.Ser1444Arg)
c.2896A>C (p.Ser966Arg)
c.2059A>C (p.Ser687Arg)
c.1690A>C (p.Ser564Arg)
n.3201A>C
n.658A>C
c.4738A>C (p.Ser1580Arg)
n.2735A>C
c.2106A>C
c.2020A>C
n.1404A>C
c.2080A>C (p.Ser694Arg)
c.2239A>C (p.Ser747Arg)
c.4369A>C (p.Ser1457Arg)
c.4489A>C (p.Ser1497Arg)
c.3568A>C (p.Ser1190Arg)
c.3388A>C (p.Ser1130Arg)
c.3148A>C (p.Ser1050Arg)
c.2767A>C (p.Ser923Arg)
c.1630A>C (p.Ser544Arg)
c.4699A>C (p.Ser1567Arg)
c.4600A>C (p.Ser1534Arg)
c.4570A>C (p.Ser1524Arg)
c.4540A>C (p.Ser1514Arg)
c.4411A>C (p.Ser1471Arg)
c.4390A>C (p.Ser1464Arg)
n.4685A>C
6g.157200963A>GCA366241318ARID1Bc.4579A>G (p.Ser1527Gly)
c.4648A>G (p.Ser1550Gly)
c.4867A>G (p.Ser1623Gly)
c.4618A>G (p.Ser1540Gly)
c.4330A>G (p.Ser1444Gly)
c.2896A>G (p.Ser966Gly)
c.2059A>G (p.Ser687Gly)
c.1690A>G (p.Ser564Gly)
n.3201A>G
n.658A>G
c.4738A>G (p.Ser1580Gly)
n.2735A>G
c.2106A>G
c.2020A>G
n.1404A>G
c.2080A>G (p.Ser694Gly)
c.2239A>G (p.Ser747Gly)
c.4369A>G (p.Ser1457Gly)
c.4489A>G (p.Ser1497Gly)
c.3568A>G (p.Ser1190Gly)
c.3388A>G (p.Ser1130Gly)
c.3148A>G (p.Ser1050Gly)
c.2767A>G (p.Ser923Gly)
c.1630A>G (p.Ser544Gly)
c.4699A>G (p.Ser1567Gly)
c.4600A>G (p.Ser1534Gly)
c.4570A>G (p.Ser1524Gly)
c.4540A>G (p.Ser1514Gly)
c.4411A>G (p.Ser1471Gly)
c.4390A>G (p.Ser1464Gly)
n.4685A>G
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.157200963A>TCA366241319ARID1Bc.4579A>T (p.Ser1527Cys)
c.4648A>T (p.Ser1550Cys)
c.4867A>T (p.Ser1623Cys)
c.4618A>T (p.Ser1540Cys)
c.4330A>T (p.Ser1444Cys)
c.2896A>T (p.Ser966Cys)
c.2059A>T (p.Ser687Cys)
c.1690A>T (p.Ser564Cys)
n.3201A>T
n.658A>T
c.4738A>T (p.Ser1580Cys)
n.2735A>T
c.2106A>T
c.2020A>T
n.1404A>T
c.2080A>T (p.Ser694Cys)
c.2239A>T (p.Ser747Cys)
c.4369A>T (p.Ser1457Cys)
c.4489A>T (p.Ser1497Cys)
c.3568A>T (p.Ser1190Cys)
c.3388A>T (p.Ser1130Cys)
c.3148A>T (p.Ser1050Cys)
c.2767A>T (p.Ser923Cys)
c.1630A>T (p.Ser544Cys)
c.4699A>T (p.Ser1567Cys)
c.4600A>T (p.Ser1534Cys)
c.4570A>T (p.Ser1524Cys)
c.4540A>T (p.Ser1514Cys)
c.4411A>T (p.Ser1471Cys)
c.4390A>T (p.Ser1464Cys)
n.4685A>T
6g.157200964G>ACA366241320ARID1Bc.4580G>A (p.Ser1527Asn)
c.4649G>A (p.Ser1550Asn)
c.4868G>A (p.Ser1623Asn)
c.4619G>A (p.Ser1540Asn)
c.4331G>A (p.Ser1444Asn)
c.2897G>A (p.Ser966Asn)
c.2060G>A (p.Ser687Asn)
c.1691G>A (p.Ser564Asn)
n.3202G>A
n.659G>A
c.4739G>A (p.Ser1580Asn)
n.2736G>A
c.2107G>A
c.2021G>A
n.1405G>A
c.2081G>A (p.Ser694Asn)
c.2240G>A (p.Ser747Asn)
c.4370G>A (p.Ser1457Asn)
c.4490G>A (p.Ser1497Asn)
c.3569G>A (p.Ser1190Asn)
c.3389G>A (p.Ser1130Asn)
c.3149G>A (p.Ser1050Asn)
c.2768G>A (p.Ser923Asn)
c.1631G>A (p.Ser544Asn)
c.4700G>A (p.Ser1567Asn)
c.4601G>A (p.Ser1534Asn)
c.4571G>A (p.Ser1524Asn)
c.4541G>A (p.Ser1514Asn)
c.4412G>A (p.Ser1471Asn)
c.4391G>A (p.Ser1464Asn)
n.4686G>A
dbSNP gnomAD v4
6g.157200964G>CCA366241321ARID1Bc.4580G>C (p.Ser1527Thr)
c.4649G>C (p.Ser1550Thr)
c.4868G>C (p.Ser1623Thr)
c.4619G>C (p.Ser1540Thr)
c.4331G>C (p.Ser1444Thr)
c.2897G>C (p.Ser966Thr)
c.2060G>C (p.Ser687Thr)
c.1691G>C (p.Ser564Thr)
n.3202G>C
n.659G>C
c.4739G>C (p.Ser1580Thr)
n.2736G>C
c.2107G>C
c.2021G>C
n.1405G>C
c.2081G>C (p.Ser694Thr)
c.2240G>C (p.Ser747Thr)
c.4370G>C (p.Ser1457Thr)
c.4490G>C (p.Ser1497Thr)
c.3569G>C (p.Ser1190Thr)
c.3389G>C (p.Ser1130Thr)
c.3149G>C (p.Ser1050Thr)
c.2768G>C (p.Ser923Thr)
c.1631G>C (p.Ser544Thr)
c.4700G>C (p.Ser1567Thr)
c.4601G>C (p.Ser1534Thr)
c.4571G>C (p.Ser1524Thr)
c.4541G>C (p.Ser1514Thr)
c.4412G>C (p.Ser1471Thr)
c.4391G>C (p.Ser1464Thr)
n.4686G>C
dbSNP gnomAD v2 gnomAD v4
6g.157200964G=CA1675543173ARID1Bc.4580G= (p.Ser1527=)
c.4649G= (p.Ser1550=)
c.4868G= (p.Ser1623=)
c.4619G= (p.Ser1540=)
c.4331G= (p.Ser1444=)
c.2897G= (p.Ser966=)
c.2060G= (p.Ser687=)
c.1691G= (p.Ser564=)
n.3202G=
n.659G=
c.4739G= (p.Ser1580=)
n.2736G=
c.2107G=
c.2021G=
n.1405G=
c.2081G= (p.Ser694=)
c.2240G= (p.Ser747=)
c.4370G= (p.Ser1457=)
c.4490G= (p.Ser1497=)
c.3569G= (p.Ser1190=)
c.3389G= (p.Ser1130=)
c.3149G= (p.Ser1050=)
c.2768G= (p.Ser923=)
c.1631G= (p.Ser544=)
c.4700G= (p.Ser1567=)
c.4601G= (p.Ser1534=)
c.4571G= (p.Ser1524=)
c.4541G= (p.Ser1514=)
c.4412G= (p.Ser1471=)
c.4391G= (p.Ser1464=)
n.4686G=
6g.157200964G>TCA366241322ARID1Bc.4580G>T (p.Ser1527Ile)
c.4649G>T (p.Ser1550Ile)
c.4868G>T (p.Ser1623Ile)
c.4619G>T (p.Ser1540Ile)
c.4331G>T (p.Ser1444Ile)
c.2897G>T (p.Ser966Ile)
c.2060G>T (p.Ser687Ile)
c.1691G>T (p.Ser564Ile)
n.3202G>T
n.659G>T
c.4739G>T (p.Ser1580Ile)
n.2736G>T
c.2107G>T
c.2021G>T
n.1405G>T
c.2081G>T (p.Ser694Ile)
c.2240G>T (p.Ser747Ile)
c.4370G>T (p.Ser1457Ile)
c.4490G>T (p.Ser1497Ile)
c.3569G>T (p.Ser1190Ile)
c.3389G>T (p.Ser1130Ile)
c.3149G>T (p.Ser1050Ile)
c.2768G>T (p.Ser923Ile)
c.1631G>T (p.Ser544Ile)
c.4700G>T (p.Ser1567Ile)
c.4601G>T (p.Ser1534Ile)
c.4571G>T (p.Ser1524Ile)
c.4541G>T (p.Ser1514Ile)
c.4412G>T (p.Ser1471Ile)
c.4391G>T (p.Ser1464Ile)
n.4686G>T

Number of alleles fetched