Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.157148855G>ACA366389106ARID1Bc.2993G>A (p.Gly998Glu)
c.2903G>A (p.Gly968Glu)
c.1007G>A (p.Gly336Glu)
c.3032G>A (p.Gly1011Glu)
c.2744G>A (p.Gly915Glu)
c.1151G>A (p.Gly384Glu)
n.894G>A
c.314G>A (p.Gly105Glu)
n.127G>A
c.232G>A
c.36G>A
c.494G>A (p.Gly165Glu)
c.2783G>A (p.Gly928Glu)
n.1742G>A
c.1010G>A (p.Gly337Glu)
n.840G>A
c.66G>A
c.1694G>A (p.Gly565Glu)
c.1514G>A (p.Gly505Glu)
c.1274G>A (p.Gly425Glu)
c.893G>A (p.Gly298Glu)
c.-20+15648G>A (n.-20+15648G>A)
c.2825G>A (p.Gly942Glu)
c.2645G>A (p.Gly882Glu)
n.2908G>A
gnomAD v4
6g.157148855G>CCA366389107ARID1Bc.2993G>C (p.Gly998Ala)
c.2903G>C (p.Gly968Ala)
c.1007G>C (p.Gly336Ala)
c.3032G>C (p.Gly1011Ala)
c.2744G>C (p.Gly915Ala)
c.1151G>C (p.Gly384Ala)
n.894G>C
c.314G>C (p.Gly105Ala)
n.127G>C
c.232G>C
c.36G>C
c.494G>C (p.Gly165Ala)
c.2783G>C (p.Gly928Ala)
n.1742G>C
c.1010G>C (p.Gly337Ala)
n.840G>C
c.66G>C
c.1694G>C (p.Gly565Ala)
c.1514G>C (p.Gly505Ala)
c.1274G>C (p.Gly425Ala)
c.893G>C (p.Gly298Ala)
c.-20+15648G>C (n.-20+15648G>C)
c.2825G>C (p.Gly942Ala)
c.2645G>C (p.Gly882Ala)
n.2908G>C
6g.157148855G>TCA366389108ARID1Bc.2993G>T (p.Gly998Val)
c.2903G>T (p.Gly968Val)
c.1007G>T (p.Gly336Val)
c.3032G>T (p.Gly1011Val)
c.2744G>T (p.Gly915Val)
c.1151G>T (p.Gly384Val)
n.894G>T
c.314G>T (p.Gly105Val)
n.127G>T
c.232G>T
c.36G>T
c.494G>T (p.Gly165Val)
c.2783G>T (p.Gly928Val)
n.1742G>T
c.1010G>T (p.Gly337Val)
n.840G>T
c.66G>T
c.1694G>T (p.Gly565Val)
c.1514G>T (p.Gly505Val)
c.1274G>T (p.Gly425Val)
c.893G>T (p.Gly298Val)
c.-20+15648G>T (n.-20+15648G>T)
c.2825G>T (p.Gly942Val)
c.2645G>T (p.Gly882Val)
n.2908G>T
6g.157148856G>ACA452990341ARID1Bc.2994G>A (p.Gly998=)
c.2904G>A (p.Gly968=)
c.1008G>A (p.Gly336=)
c.3033G>A (p.Gly1011=)
c.2745G>A (p.Gly915=)
c.1152G>A (p.Gly384=)
n.895G>A
c.315G>A (p.Gly105=)
n.128G>A
c.233G>A
c.37G>A
c.495G>A (p.Gly165=)
c.2784G>A (p.Gly928=)
n.1743G>A
c.1011G>A (p.Gly337=)
n.841G>A
c.67G>A
c.1695G>A (p.Gly565=)
c.1515G>A (p.Gly505=)
c.1275G>A (p.Gly425=)
c.894G>A (p.Gly298=)
c.-20+15649G>A (n.-20+15649G>A)
c.2826G>A (p.Gly942=)
c.2646G>A (p.Gly882=)
n.2909G>A
dbSNP gnomAD v4
6g.157148856G>CCA452990342ARID1Bc.2994G>C (p.Gly998=)
c.2904G>C (p.Gly968=)
c.1008G>C (p.Gly336=)
c.3033G>C (p.Gly1011=)
c.2745G>C (p.Gly915=)
c.1152G>C (p.Gly384=)
n.895G>C
c.315G>C (p.Gly105=)
n.128G>C
c.233G>C
c.37G>C
c.495G>C (p.Gly165=)
c.2784G>C (p.Gly928=)
n.1743G>C
c.1011G>C (p.Gly337=)
n.841G>C
c.67G>C
c.1695G>C (p.Gly565=)
c.1515G>C (p.Gly505=)
c.1275G>C (p.Gly425=)
c.894G>C (p.Gly298=)
c.-20+15649G>C (n.-20+15649G>C)
c.2826G>C (p.Gly942=)
c.2646G>C (p.Gly882=)
n.2909G>C
6g.157148856G>TCA452990343ARID1Bc.2994G>T (p.Gly998=)
c.2904G>T (p.Gly968=)
c.1008G>T (p.Gly336=)
c.3033G>T (p.Gly1011=)
c.2745G>T (p.Gly915=)
c.1152G>T (p.Gly384=)
n.895G>T
c.315G>T (p.Gly105=)
n.128G>T
c.233G>T
c.37G>T
c.495G>T (p.Gly165=)
c.2784G>T (p.Gly928=)
n.1743G>T
c.1011G>T (p.Gly337=)
n.841G>T
c.67G>T
c.1695G>T (p.Gly565=)
c.1515G>T (p.Gly505=)
c.1275G>T (p.Gly425=)
c.894G>T (p.Gly298=)
c.-20+15649G>T (n.-20+15649G>T)
c.2826G>T (p.Gly942=)
c.2646G>T (p.Gly882=)
n.2909G>T
6g.157148857C>ACA366389110ARID1Bc.2995C>A (p.Pro999Thr)
c.2905C>A (p.Pro969Thr)
c.1009C>A (p.Pro337Thr)
c.3034C>A (p.Pro1012Thr)
c.2746C>A (p.Pro916Thr)
c.1153C>A (p.Pro385Thr)
n.896C>A
c.316C>A (p.Pro106Thr)
n.129C>A
c.234C>A
c.38C>A
c.496C>A (p.Pro166Thr)
c.2785C>A (p.Pro929Thr)
n.1744C>A
c.1012C>A (p.Pro338Thr)
n.842C>A
c.68C>A
c.1696C>A (p.Pro566Thr)
c.1516C>A (p.Pro506Thr)
c.1276C>A (p.Pro426Thr)
c.895C>A (p.Pro299Thr)
c.-20+15650C>A (n.-20+15650C>A)
c.2827C>A (p.Pro943Thr)
c.2647C>A (p.Pro883Thr)
n.2910C>A
6g.157148857C>GCA366389111ARID1Bc.2995C>G (p.Pro999Ala)
c.2905C>G (p.Pro969Ala)
c.1009C>G (p.Pro337Ala)
c.3034C>G (p.Pro1012Ala)
c.2746C>G (p.Pro916Ala)
c.1153C>G (p.Pro385Ala)
n.896C>G
c.316C>G (p.Pro106Ala)
n.129C>G
c.234C>G
c.38C>G
c.496C>G (p.Pro166Ala)
c.2785C>G (p.Pro929Ala)
n.1744C>G
c.1012C>G (p.Pro338Ala)
n.842C>G
c.68C>G
c.1696C>G (p.Pro566Ala)
c.1516C>G (p.Pro506Ala)
c.1276C>G (p.Pro426Ala)
c.895C>G (p.Pro299Ala)
c.-20+15650C>G (n.-20+15650C>G)
c.2827C>G (p.Pro943Ala)
c.2647C>G (p.Pro883Ala)
n.2910C>G
6g.157148857C>TCA366389109ARID1Bc.2995C>T (p.Pro999Ser)
c.2905C>T (p.Pro969Ser)
c.1009C>T (p.Pro337Ser)
c.3034C>T (p.Pro1012Ser)
c.2746C>T (p.Pro916Ser)
c.1153C>T (p.Pro385Ser)
n.896C>T
c.316C>T (p.Pro106Ser)
n.129C>T
c.234C>T
c.38C>T
c.496C>T (p.Pro166Ser)
c.2785C>T (p.Pro929Ser)
n.1744C>T
c.1012C>T (p.Pro338Ser)
n.842C>T
c.68C>T
c.1696C>T (p.Pro566Ser)
c.1516C>T (p.Pro506Ser)
c.1276C>T (p.Pro426Ser)
c.895C>T (p.Pro299Ser)
c.-20+15650C>T (n.-20+15650C>T)
c.2827C>T (p.Pro943Ser)
c.2647C>T (p.Pro883Ser)
n.2910C>T
dbSNP gnomAD v4
6g.157148858C>ACA366389114ARID1Bc.2996C>A (p.Pro999Gln)
c.2906C>A (p.Pro969Gln)
c.1010C>A (p.Pro337Gln)
c.3035C>A (p.Pro1012Gln)
c.2747C>A (p.Pro916Gln)
c.1154C>A (p.Pro385Gln)
n.897C>A
c.317C>A (p.Pro106Gln)
n.130C>A
c.235C>A
c.39C>A
c.497C>A (p.Pro166Gln)
c.2786C>A (p.Pro929Gln)
n.1745C>A
c.1013C>A (p.Pro338Gln)
n.843C>A
c.69C>A
c.1697C>A (p.Pro566Gln)
c.1517C>A (p.Pro506Gln)
c.1277C>A (p.Pro426Gln)
c.896C>A (p.Pro299Gln)
c.-20+15651C>A (n.-20+15651C>A)
c.2828C>A (p.Pro943Gln)
c.2648C>A (p.Pro883Gln)
n.2911C>A
6g.157148858C>GCA366389112ARID1Bc.2996C>G (p.Pro999Arg)
c.2906C>G (p.Pro969Arg)
c.1010C>G (p.Pro337Arg)
c.3035C>G (p.Pro1012Arg)
c.2747C>G (p.Pro916Arg)
c.1154C>G (p.Pro385Arg)
n.897C>G
c.317C>G (p.Pro106Arg)
n.130C>G
c.235C>G
c.39C>G
c.497C>G (p.Pro166Arg)
c.2786C>G (p.Pro929Arg)
n.1745C>G
c.1013C>G (p.Pro338Arg)
n.843C>G
c.69C>G
c.1697C>G (p.Pro566Arg)
c.1517C>G (p.Pro506Arg)
c.1277C>G (p.Pro426Arg)
c.896C>G (p.Pro299Arg)
c.-20+15651C>G (n.-20+15651C>G)
c.2828C>G (p.Pro943Arg)
c.2648C>G (p.Pro883Arg)
n.2911C>G
gnomAD v4
6g.157148858C>TCA366389113ARID1Bc.2996C>T (p.Pro999Leu)
c.2906C>T (p.Pro969Leu)
c.1010C>T (p.Pro337Leu)
c.3035C>T (p.Pro1012Leu)
c.2747C>T (p.Pro916Leu)
c.1154C>T (p.Pro385Leu)
n.897C>T
c.317C>T (p.Pro106Leu)
n.130C>T
c.235C>T
c.39C>T
c.497C>T (p.Pro166Leu)
c.2786C>T (p.Pro929Leu)
n.1745C>T
c.1013C>T (p.Pro338Leu)
n.843C>T
c.69C>T
c.1697C>T (p.Pro566Leu)
c.1517C>T (p.Pro506Leu)
c.1277C>T (p.Pro426Leu)
c.896C>T (p.Pro299Leu)
c.-20+15651C>T (n.-20+15651C>T)
c.2828C>T (p.Pro943Leu)
c.2648C>T (p.Pro883Leu)
n.2911C>T
6g.157148859A>CCA452990348ARID1Bc.2997A>C (p.Pro999=)
c.2907A>C (p.Pro969=)
c.1011A>C (p.Pro337=)
c.3036A>C (p.Pro1012=)
c.2748A>C (p.Pro916=)
c.1155A>C (p.Pro385=)
n.898A>C
c.318A>C (p.Pro106=)
n.131A>C
c.236A>C
c.40A>C
c.498A>C (p.Pro166=)
c.2787A>C (p.Pro929=)
n.1746A>C
c.1014A>C (p.Pro338=)
n.844A>C
c.70A>C
c.1698A>C (p.Pro566=)
c.1518A>C (p.Pro506=)
c.1278A>C (p.Pro426=)
c.897A>C (p.Pro299=)
c.-20+15652A>C (n.-20+15652A>C)
c.2829A>C (p.Pro943=)
c.2649A>C (p.Pro883=)
n.2912A>C
6g.157148859A>GCA452990350ARID1Bc.2997A>G (p.Pro999=)
c.2907A>G (p.Pro969=)
c.1011A>G (p.Pro337=)
c.3036A>G (p.Pro1012=)
c.2748A>G (p.Pro916=)
c.1155A>G (p.Pro385=)
n.898A>G
c.318A>G (p.Pro106=)
n.131A>G
c.236A>G
c.40A>G
c.498A>G (p.Pro166=)
c.2787A>G (p.Pro929=)
n.1746A>G
c.1014A>G (p.Pro338=)
n.844A>G
c.70A>G
c.1698A>G (p.Pro566=)
c.1518A>G (p.Pro506=)
c.1278A>G (p.Pro426=)
c.897A>G (p.Pro299=)
c.-20+15652A>G (n.-20+15652A>G)
c.2829A>G (p.Pro943=)
c.2649A>G (p.Pro883=)
n.2912A>G
gnomAD v4
6g.157148859A>TCA452990349ARID1Bc.2997A>T (p.Pro999=)
c.2907A>T (p.Pro969=)
c.1011A>T (p.Pro337=)
c.3036A>T (p.Pro1012=)
c.2748A>T (p.Pro916=)
c.1155A>T (p.Pro385=)
n.898A>T
c.318A>T (p.Pro106=)
n.131A>T
c.236A>T
c.40A>T
c.498A>T (p.Pro166=)
c.2787A>T (p.Pro929=)
n.1746A>T
c.1014A>T (p.Pro338=)
n.844A>T
c.70A>T
c.1698A>T (p.Pro566=)
c.1518A>T (p.Pro506=)
c.1278A>T (p.Pro426=)
c.897A>T (p.Pro299=)
c.-20+15652A>T (n.-20+15652A>T)
c.2829A>T (p.Pro943=)
c.2649A>T (p.Pro883=)
n.2912A>T
6g.157148860G>ACA150846254ARID1Bc.2998G>A (p.Gly1000Arg)
c.2908G>A (p.Gly970Arg)
c.1012G>A (p.Gly338Arg)
c.3037G>A (p.Gly1013Arg)
c.2749G>A (p.Gly917Arg)
c.1156G>A (p.Gly386Arg)
n.899G>A
c.319G>A (p.Gly107Arg)
n.132G>A
c.237G>A
c.41G>A
c.499G>A (p.Gly167Arg)
c.2788G>A (p.Gly930Arg)
n.1747G>A
c.1015G>A (p.Gly339Arg)
n.845G>A
c.71G>A
c.1699G>A (p.Gly567Arg)
c.1519G>A (p.Gly507Arg)
c.1279G>A (p.Gly427Arg)
c.898G>A (p.Gly300Arg)
c.-20+15653G>A (n.-20+15653G>A)
c.2830G>A (p.Gly944Arg)
c.2650G>A (p.Gly884Arg)
n.2913G>A
dbSNP
6g.157148860G>CCA366389115ARID1Bc.2998G>C (p.Gly1000Arg)
c.2908G>C (p.Gly970Arg)
c.1012G>C (p.Gly338Arg)
c.3037G>C (p.Gly1013Arg)
c.2749G>C (p.Gly917Arg)
c.1156G>C (p.Gly386Arg)
n.899G>C
c.319G>C (p.Gly107Arg)
n.132G>C
c.237G>C
c.41G>C
c.499G>C (p.Gly167Arg)
c.2788G>C (p.Gly930Arg)
n.1747G>C
c.1015G>C (p.Gly339Arg)
n.845G>C
c.71G>C
c.1699G>C (p.Gly567Arg)
c.1519G>C (p.Gly507Arg)
c.1279G>C (p.Gly427Arg)
c.898G>C (p.Gly300Arg)
c.-20+15653G>C (n.-20+15653G>C)
c.2830G>C (p.Gly944Arg)
c.2650G>C (p.Gly884Arg)
n.2913G>C
6g.157148860G=CA1675517044ARID1Bc.2998G= (p.Gly1000=)
c.2908G= (p.Gly970=)
c.1012G= (p.Gly338=)
c.3037G= (p.Gly1013=)
c.2749G= (p.Gly917=)
c.1156G= (p.Gly386=)
n.899G=
c.319G= (p.Gly107=)
n.132G=
c.237G=
c.41G=
c.499G= (p.Gly167=)
c.2788G= (p.Gly930=)
n.1747G=
c.1015G= (p.Gly339=)
n.845G=
c.71G=
c.1699G= (p.Gly567=)
c.1519G= (p.Gly507=)
c.1279G= (p.Gly427=)
c.898G= (p.Gly300=)
c.-20+15653G= (n.-20+15653G=)
c.2830G= (p.Gly944=)
c.2650G= (p.Gly884=)
n.2913G=
6g.157148860G>TCA366389116ARID1Bc.2998G>T (p.Gly1000Ter)
c.2908G>T (p.Gly970Ter)
c.1012G>T (p.Gly338Ter)
c.3037G>T (p.Gly1013Ter)
c.2749G>T (p.Gly917Ter)
c.1156G>T (p.Gly386Ter)
n.899G>T
c.319G>T (p.Gly107Ter)
n.132G>T
c.237G>T
c.41G>T
c.499G>T (p.Gly167Ter)
c.2788G>T (p.Gly930Ter)
n.1747G>T
c.1015G>T (p.Gly339Ter)
n.845G>T
c.71G>T
c.1699G>T (p.Gly567Ter)
c.1519G>T (p.Gly507Ter)
c.1279G>T (p.Gly427Ter)
c.898G>T (p.Gly300Ter)
c.-20+15653G>T (n.-20+15653G>T)
c.2830G>T (p.Gly944Ter)
c.2650G>T (p.Gly884Ter)
n.2913G>T
dbSNP
6g.157148861G>ACA366389119ARID1Bc.2999G>A (p.Gly1000Glu)
c.2909G>A (p.Gly970Glu)
c.1013G>A (p.Gly338Glu)
c.3038G>A (p.Gly1013Glu)
c.2750G>A (p.Gly917Glu)
c.1157G>A (p.Gly386Glu)
n.900G>A
c.320G>A (p.Gly107Glu)
n.133G>A
c.238G>A
c.42G>A
c.500G>A (p.Gly167Glu)
c.2789G>A (p.Gly930Glu)
n.1748G>A
c.1016G>A (p.Gly339Glu)
n.846G>A
c.72G>A
c.1700G>A (p.Gly567Glu)
c.1520G>A (p.Gly507Glu)
c.1280G>A (p.Gly427Glu)
c.899G>A (p.Gly300Glu)
c.-20+15654G>A (n.-20+15654G>A)
c.2831G>A (p.Gly944Glu)
c.2651G>A (p.Gly884Glu)
n.2914G>A
dbSNP gnomAD v2 gnomAD v4
6g.157148861G>CCA366389118ARID1Bc.2999G>C (p.Gly1000Ala)
c.2909G>C (p.Gly970Ala)
c.1013G>C (p.Gly338Ala)
c.3038G>C (p.Gly1013Ala)
c.2750G>C (p.Gly917Ala)
c.1157G>C (p.Gly386Ala)
n.900G>C
c.320G>C (p.Gly107Ala)
n.133G>C
c.238G>C
c.42G>C
c.500G>C (p.Gly167Ala)
c.2789G>C (p.Gly930Ala)
n.1748G>C
c.1016G>C (p.Gly339Ala)
n.846G>C
c.72G>C
c.1700G>C (p.Gly567Ala)
c.1520G>C (p.Gly507Ala)
c.1280G>C (p.Gly427Ala)
c.899G>C (p.Gly300Ala)
c.-20+15654G>C (n.-20+15654G>C)
c.2831G>C (p.Gly944Ala)
c.2651G>C (p.Gly884Ala)
n.2914G>C
6g.157148861G=CA1675517045ARID1Bc.2999G= (p.Gly1000=)
c.2909G= (p.Gly970=)
c.1013G= (p.Gly338=)
c.3038G= (p.Gly1013=)
c.2750G= (p.Gly917=)
c.1157G= (p.Gly386=)
n.900G=
c.320G= (p.Gly107=)
n.133G=
c.238G=
c.42G=
c.500G= (p.Gly167=)
c.2789G= (p.Gly930=)
n.1748G=
c.1016G= (p.Gly339=)
n.846G=
c.72G=
c.1700G= (p.Gly567=)
c.1520G= (p.Gly507=)
c.1280G= (p.Gly427=)
c.899G= (p.Gly300=)
c.-20+15654G= (n.-20+15654G=)
c.2831G= (p.Gly944=)
c.2651G= (p.Gly884=)
n.2914G=
6g.157148861G>TCA366389117ARID1Bc.2999G>T (p.Gly1000Val)
c.2909G>T (p.Gly970Val)
c.1013G>T (p.Gly338Val)
c.3038G>T (p.Gly1013Val)
c.2750G>T (p.Gly917Val)
c.1157G>T (p.Gly386Val)
n.900G>T
c.320G>T (p.Gly107Val)
n.133G>T
c.238G>T
c.42G>T
c.500G>T (p.Gly167Val)
c.2789G>T (p.Gly930Val)
n.1748G>T
c.1016G>T (p.Gly339Val)
n.846G>T
c.72G>T
c.1700G>T (p.Gly567Val)
c.1520G>T (p.Gly507Val)
c.1280G>T (p.Gly427Val)
c.899G>T (p.Gly300Val)
c.-20+15654G>T (n.-20+15654G>T)
c.2831G>T (p.Gly944Val)
c.2651G>T (p.Gly884Val)
n.2914G>T
6g.157148862A>CCA452990353ARID1Bc.3000A>C (p.Gly1000=)
c.2910A>C (p.Gly970=)
c.1014A>C (p.Gly338=)
c.3039A>C (p.Gly1013=)
c.2751A>C (p.Gly917=)
c.1158A>C (p.Gly386=)
n.901A>C
c.321A>C (p.Gly107=)
n.134A>C
c.239A>C
c.43A>C
c.501A>C (p.Gly167=)
c.2790A>C (p.Gly930=)
n.1749A>C
c.1017A>C (p.Gly339=)
n.847A>C
c.73A>C
c.1701A>C (p.Gly567=)
c.1521A>C (p.Gly507=)
c.1281A>C (p.Gly427=)
c.900A>C (p.Gly300=)
c.-20+15655A>C (n.-20+15655A>C)
c.2832A>C (p.Gly944=)
c.2652A>C (p.Gly884=)
n.2915A>C
6g.157148862A>GCA452990355ARID1Bc.3000A>G (p.Gly1000=)
c.2910A>G (p.Gly970=)
c.1014A>G (p.Gly338=)
c.3039A>G (p.Gly1013=)
c.2751A>G (p.Gly917=)
c.1158A>G (p.Gly386=)
n.901A>G
c.321A>G (p.Gly107=)
n.134A>G
c.239A>G
c.43A>G
c.501A>G (p.Gly167=)
c.2790A>G (p.Gly930=)
n.1749A>G
c.1017A>G (p.Gly339=)
n.847A>G
c.73A>G
c.1701A>G (p.Gly567=)
c.1521A>G (p.Gly507=)
c.1281A>G (p.Gly427=)
c.900A>G (p.Gly300=)
c.-20+15655A>G (n.-20+15655A>G)
c.2832A>G (p.Gly944=)
c.2652A>G (p.Gly884=)
n.2915A>G
6g.157148862A>TCA452990357ARID1Bc.3000A>T (p.Gly1000=)
c.2910A>T (p.Gly970=)
c.1014A>T (p.Gly338=)
c.3039A>T (p.Gly1013=)
c.2751A>T (p.Gly917=)
c.1158A>T (p.Gly386=)
n.901A>T
c.321A>T (p.Gly107=)
n.134A>T
c.239A>T
c.43A>T
c.501A>T (p.Gly167=)
c.2790A>T (p.Gly930=)
n.1749A>T
c.1017A>T (p.Gly339=)
n.847A>T
c.73A>T
c.1701A>T (p.Gly567=)
c.1521A>T (p.Gly507=)
c.1281A>T (p.Gly427=)
c.900A>T (p.Gly300=)
c.-20+15655A>T (n.-20+15655A>T)
c.2832A>T (p.Gly944=)
c.2652A>T (p.Gly884=)
n.2915A>T
6g.157148863A=CA1675517046ARID1Bc.3001A= (p.Met1001=)
c.2911A= (p.Met971=)
c.1015A= (p.Met339=)
c.3040A= (p.Met1014=)
c.2752A= (p.Met918=)
c.1159A= (p.Met387=)
n.902A=
c.322A= (p.Met108=)
n.135A=
c.240A=
c.44A=
c.502A= (p.Met168=)
c.2791A= (p.Met931=)
n.1750A=
c.1018A= (p.Met340=)
n.848A=
c.74A=
c.1702A= (p.Met568=)
c.1522A= (p.Met508=)
c.1282A= (p.Met428=)
c.901A= (p.Met301=)
c.-20+15656A= (n.-20+15656A=)
c.2833A= (p.Met945=)
c.2653A= (p.Met885=)
n.2916A=
6g.157148863A>CCA366389120ARID1Bc.3001A>C (p.Met1001Leu)
c.2911A>C (p.Met971Leu)
c.1015A>C (p.Met339Leu)
c.3040A>C (p.Met1014Leu)
c.2752A>C (p.Met918Leu)
c.1159A>C (p.Met387Leu)
n.902A>C
c.322A>C (p.Met108Leu)
n.135A>C
c.240A>C
c.44A>C
c.502A>C (p.Met168Leu)
c.2791A>C (p.Met931Leu)
n.1750A>C
c.1018A>C (p.Met340Leu)
n.848A>C
c.74A>C
c.1702A>C (p.Met568Leu)
c.1522A>C (p.Met508Leu)
c.1282A>C (p.Met428Leu)
c.901A>C (p.Met301Leu)
c.-20+15656A>C (n.-20+15656A>C)
c.2833A>C (p.Met945Leu)
c.2653A>C (p.Met885Leu)
n.2916A>C
6g.157148863A>GCA366389121ARID1Bc.3001A>G (p.Met1001Val)
c.2911A>G (p.Met971Val)
c.1015A>G (p.Met339Val)
c.3040A>G (p.Met1014Val)
c.2752A>G (p.Met918Val)
c.1159A>G (p.Met387Val)
n.902A>G
c.322A>G (p.Met108Val)
n.135A>G
c.240A>G
c.44A>G
c.502A>G (p.Met168Val)
c.2791A>G (p.Met931Val)
n.1750A>G
c.1018A>G (p.Met340Val)
n.848A>G
c.74A>G
c.1702A>G (p.Met568Val)
c.1522A>G (p.Met508Val)
c.1282A>G (p.Met428Val)
c.901A>G (p.Met301Val)
c.-20+15656A>G (n.-20+15656A>G)
c.2833A>G (p.Met945Val)
c.2653A>G (p.Met885Val)
n.2916A>G
ClinVar dbSNP gnomAD v2 gnomAD v4
6g.157148863A>TCA366389122ARID1Bc.3001A>T (p.Met1001Leu)
c.2911A>T (p.Met971Leu)
c.1015A>T (p.Met339Leu)
c.3040A>T (p.Met1014Leu)
c.2752A>T (p.Met918Leu)
c.1159A>T (p.Met387Leu)
n.902A>T
c.322A>T (p.Met108Leu)
n.135A>T
c.240A>T
c.44A>T
c.502A>T (p.Met168Leu)
c.2791A>T (p.Met931Leu)
n.1750A>T
c.1018A>T (p.Met340Leu)
n.848A>T
c.74A>T
c.1702A>T (p.Met568Leu)
c.1522A>T (p.Met508Leu)
c.1282A>T (p.Met428Leu)
c.901A>T (p.Met301Leu)
c.-20+15656A>T (n.-20+15656A>T)
c.2833A>T (p.Met945Leu)
c.2653A>T (p.Met885Leu)
n.2916A>T
6g.157148864T>ACA366389123ARID1Bc.3002T>A (p.Met1001Lys)
c.2912T>A (p.Met971Lys)
c.1016T>A (p.Met339Lys)
c.3041T>A (p.Met1014Lys)
c.2753T>A (p.Met918Lys)
c.1160T>A (p.Met387Lys)
n.903T>A
c.323T>A (p.Met108Lys)
n.136T>A
c.241T>A
c.45T>A
c.503T>A (p.Met168Lys)
c.2792T>A (p.Met931Lys)
n.1751T>A
c.1019T>A (p.Met340Lys)
n.849T>A
c.75T>A
c.1703T>A (p.Met568Lys)
c.1523T>A (p.Met508Lys)
c.1283T>A (p.Met428Lys)
c.902T>A (p.Met301Lys)
c.-20+15657T>A (n.-20+15657T>A)
c.2834T>A (p.Met945Lys)
c.2654T>A (p.Met885Lys)
n.2917T>A
6g.157148864T>CCA366389124ARID1Bc.3002T>C (p.Met1001Thr)
c.2912T>C (p.Met971Thr)
c.1016T>C (p.Met339Thr)
c.3041T>C (p.Met1014Thr)
c.2753T>C (p.Met918Thr)
c.1160T>C (p.Met387Thr)
n.903T>C
c.323T>C (p.Met108Thr)
n.136T>C
c.241T>C
c.45T>C
c.503T>C (p.Met168Thr)
c.2792T>C (p.Met931Thr)
n.1751T>C
c.1019T>C (p.Met340Thr)
n.849T>C
c.75T>C
c.1703T>C (p.Met568Thr)
c.1523T>C (p.Met508Thr)
c.1283T>C (p.Met428Thr)
c.902T>C (p.Met301Thr)
c.-20+15657T>C (n.-20+15657T>C)
c.2834T>C (p.Met945Thr)
c.2654T>C (p.Met885Thr)
n.2917T>C
6g.157148864T>GCA4067172ARID1Bc.3002T>G (p.Met1001Arg)
c.2912T>G (p.Met971Arg)
c.1016T>G (p.Met339Arg)
c.3041T>G (p.Met1014Arg)
c.2753T>G (p.Met918Arg)
c.1160T>G (p.Met387Arg)
n.903T>G
c.323T>G (p.Met108Arg)
n.136T>G
c.241T>G
c.45T>G
c.503T>G (p.Met168Arg)
c.2792T>G (p.Met931Arg)
n.1751T>G
c.1019T>G (p.Met340Arg)
n.849T>G
c.75T>G
c.1703T>G (p.Met568Arg)
c.1523T>G (p.Met508Arg)
c.1283T>G (p.Met428Arg)
c.902T>G (p.Met301Arg)
c.-20+15657T>G (n.-20+15657T>G)
c.2834T>G (p.Met945Arg)
c.2654T>G (p.Met885Arg)
n.2917T>G
dbSNP ExAC gnomAD v2 gnomAD v4
6g.157148864T=CA1675517047ARID1Bc.3002T= (p.Met1001=)
c.2912T= (p.Met971=)
c.1016T= (p.Met339=)
c.3041T= (p.Met1014=)
c.2753T= (p.Met918=)
c.1160T= (p.Met387=)
n.903T=
c.323T= (p.Met108=)
n.136T=
c.241T=
c.45T=
c.503T= (p.Met168=)
c.2792T= (p.Met931=)
n.1751T=
c.1019T= (p.Met340=)
n.849T=
c.75T=
c.1703T= (p.Met568=)
c.1523T= (p.Met508=)
c.1283T= (p.Met428=)
c.902T= (p.Met301=)
c.-20+15657T= (n.-20+15657T=)
c.2834T= (p.Met945=)
c.2654T= (p.Met885=)
n.2917T=
6g.157148865G>ACA366389125ARID1Bc.3003G>A (p.Met1001Ile)
c.2913G>A (p.Met971Ile)
c.1017G>A (p.Met339Ile)
c.3042G>A (p.Met1014Ile)
c.2754G>A (p.Met918Ile)
c.1161G>A (p.Met387Ile)
n.904G>A
c.324G>A (p.Met108Ile)
n.137G>A
c.242G>A
c.46G>A
c.504G>A (p.Met168Ile)
c.2793G>A (p.Met931Ile)
n.1752G>A
c.1020G>A (p.Met340Ile)
n.850G>A
c.76G>A
c.1704G>A (p.Met568Ile)
c.1524G>A (p.Met508Ile)
c.1284G>A (p.Met428Ile)
c.903G>A (p.Met301Ile)
c.-20+15658G>A (n.-20+15658G>A)
c.2835G>A (p.Met945Ile)
c.2655G>A (p.Met885Ile)
n.2918G>A
6g.157148865G>CCA366389127ARID1Bc.3003G>C (p.Met1001Ile)
c.2913G>C (p.Met971Ile)
c.1017G>C (p.Met339Ile)
c.3042G>C (p.Met1014Ile)
c.2754G>C (p.Met918Ile)
c.1161G>C (p.Met387Ile)
n.904G>C
c.324G>C (p.Met108Ile)
n.137G>C
c.242G>C
c.46G>C
c.504G>C (p.Met168Ile)
c.2793G>C (p.Met931Ile)
n.1752G>C
c.1020G>C (p.Met340Ile)
n.850G>C
c.76G>C
c.1704G>C (p.Met568Ile)
c.1524G>C (p.Met508Ile)
c.1284G>C (p.Met428Ile)
c.903G>C (p.Met301Ile)
c.-20+15658G>C (n.-20+15658G>C)
c.2835G>C (p.Met945Ile)
c.2655G>C (p.Met885Ile)
n.2918G>C
ClinVar dbSNP gnomAD v4
6g.157148865G=CA1675517048ARID1Bc.3003G= (p.Met1001=)
c.2913G= (p.Met971=)
c.1017G= (p.Met339=)
c.3042G= (p.Met1014=)
c.2754G= (p.Met918=)
c.1161G= (p.Met387=)
n.904G=
c.324G= (p.Met108=)
n.137G=
c.242G=
c.46G=
c.504G= (p.Met168=)
c.2793G= (p.Met931=)
n.1752G=
c.1020G= (p.Met340=)
n.850G=
c.76G=
c.1704G= (p.Met568=)
c.1524G= (p.Met508=)
c.1284G= (p.Met428=)
c.903G= (p.Met301=)
c.-20+15658G= (n.-20+15658G=)
c.2835G= (p.Met945=)
c.2655G= (p.Met885=)
n.2918G=
6g.157148865G>TCA366389126ARID1Bc.3003G>T (p.Met1001Ile)
c.2913G>T (p.Met971Ile)
c.1017G>T (p.Met339Ile)
c.3042G>T (p.Met1014Ile)
c.2754G>T (p.Met918Ile)
c.1161G>T (p.Met387Ile)
n.904G>T
c.324G>T (p.Met108Ile)
n.137G>T
c.242G>T
c.46G>T
c.504G>T (p.Met168Ile)
c.2793G>T (p.Met931Ile)
n.1752G>T
c.1020G>T (p.Met340Ile)
n.850G>T
c.76G>T
c.1704G>T (p.Met568Ile)
c.1524G>T (p.Met508Ile)
c.1284G>T (p.Met428Ile)
c.903G>T (p.Met301Ile)
c.-20+15658G>T (n.-20+15658G>T)
c.2835G>T (p.Met945Ile)
c.2655G>T (p.Met885Ile)
n.2918G>T
dbSNP gnomAD v4
6g.157148868delCA658789860ARID1Bc.3006del (p.Pro1003ArgfsTer6)
c.2916del (p.Pro973ArgfsTer6)
c.1020del (p.Pro341ArgfsTer6)
c.3045del (p.Pro1016ArgfsTer6)
c.2757del (p.Pro920ArgfsTer6)
c.1164del (p.Pro389ArgfsTer6)
n.907del
c.327del (p.Pro110ArgfsTer6)
n.140del
c.245del
c.49del
c.507del (p.Pro170ArgfsTer6)
c.2796del (p.Pro933ArgfsTer6)
n.1755del
c.1023del (p.Pro342ArgfsTer6)
n.853del
c.79del
c.1707del (p.Pro570ArgfsTer6)
c.1527del (p.Pro510ArgfsTer6)
c.1287del (p.Pro430ArgfsTer6)
c.906del (p.Pro303ArgfsTer6)
c.-20+15661del (n.-20+15661del)
c.2838del (p.Pro947ArgfsTer6)
c.2658del (p.Pro887ArgfsTer6)
n.2921del
6g.157148866G>ACA366389128ARID1Bc.3004G>A (p.Gly1002Arg)
c.2914G>A (p.Gly972Arg)
c.1018G>A (p.Gly340Arg)
c.3043G>A (p.Gly1015Arg)
c.2755G>A (p.Gly919Arg)
c.1162G>A (p.Gly388Arg)
n.905G>A
c.325G>A (p.Gly109Arg)
n.138G>A
c.243G>A
c.47G>A
c.505G>A (p.Gly169Arg)
c.2794G>A (p.Gly932Arg)
n.1753G>A
c.1021G>A (p.Gly341Arg)
n.851G>A
c.77G>A
c.1705G>A (p.Gly569Arg)
c.1525G>A (p.Gly509Arg)
c.1285G>A (p.Gly429Arg)
c.904G>A (p.Gly302Arg)
c.-20+15659G>A (n.-20+15659G>A)
c.2836G>A (p.Gly946Arg)
c.2656G>A (p.Gly886Arg)
n.2919G>A
6g.157148866G>CCA366389129ARID1Bc.3004G>C (p.Gly1002Arg)
c.2914G>C (p.Gly972Arg)
c.1018G>C (p.Gly340Arg)
c.3043G>C (p.Gly1015Arg)
c.2755G>C (p.Gly919Arg)
c.1162G>C (p.Gly388Arg)
n.905G>C
c.325G>C (p.Gly109Arg)
n.138G>C
c.243G>C
c.47G>C
c.505G>C (p.Gly169Arg)
c.2794G>C (p.Gly932Arg)
n.1753G>C
c.1021G>C (p.Gly341Arg)
n.851G>C
c.77G>C
c.1705G>C (p.Gly569Arg)
c.1525G>C (p.Gly509Arg)
c.1285G>C (p.Gly429Arg)
c.904G>C (p.Gly302Arg)
c.-20+15659G>C (n.-20+15659G>C)
c.2836G>C (p.Gly946Arg)
c.2656G>C (p.Gly886Arg)
n.2919G>C
6g.157148866G=CA1675517049ARID1Bc.3004G= (p.Gly1002=)
c.2914G= (p.Gly972=)
c.1018G= (p.Gly340=)
c.3043G= (p.Gly1015=)
c.2755G= (p.Gly919=)
c.1162G= (p.Gly388=)
n.905G=
c.325G= (p.Gly109=)
n.138G=
c.243G=
c.47G=
c.505G= (p.Gly169=)
c.2794G= (p.Gly932=)
n.1753G=
c.1021G= (p.Gly341=)
n.851G=
c.77G=
c.1705G= (p.Gly569=)
c.1525G= (p.Gly509=)
c.1285G= (p.Gly429=)
c.904G= (p.Gly302=)
c.-20+15659G= (n.-20+15659G=)
c.2836G= (p.Gly946=)
c.2656G= (p.Gly886=)
n.2919G=
6g.157148866G>TCA366389130ARID1Bc.3004G>T (p.Gly1002Trp)
c.2914G>T (p.Gly972Trp)
c.1018G>T (p.Gly340Trp)
c.3043G>T (p.Gly1015Trp)
c.2755G>T (p.Gly919Trp)
c.1162G>T (p.Gly388Trp)
n.905G>T
c.325G>T (p.Gly109Trp)
n.138G>T
c.243G>T
c.47G>T
c.505G>T (p.Gly169Trp)
c.2794G>T (p.Gly932Trp)
n.1753G>T
c.1021G>T (p.Gly341Trp)
n.851G>T
c.77G>T
c.1705G>T (p.Gly569Trp)
c.1525G>T (p.Gly509Trp)
c.1285G>T (p.Gly429Trp)
c.904G>T (p.Gly302Trp)
c.-20+15659G>T (n.-20+15659G>T)
c.2836G>T (p.Gly946Trp)
c.2656G>T (p.Gly886Trp)
n.2919G>T
dbSNP gnomAD v4
6g.157148867G>ACA366389131ARID1Bc.3005G>A (p.Gly1002Glu)
c.2915G>A (p.Gly972Glu)
c.1019G>A (p.Gly340Glu)
c.3044G>A (p.Gly1015Glu)
c.2756G>A (p.Gly919Glu)
c.1163G>A (p.Gly388Glu)
n.906G>A
c.326G>A (p.Gly109Glu)
n.139G>A
c.244G>A
c.48G>A
c.506G>A (p.Gly169Glu)
c.2795G>A (p.Gly932Glu)
n.1754G>A
c.1022G>A (p.Gly341Glu)
n.852G>A
c.78G>A
c.1706G>A (p.Gly569Glu)
c.1526G>A (p.Gly509Glu)
c.1286G>A (p.Gly429Glu)
c.905G>A (p.Gly302Glu)
c.-20+15660G>A (n.-20+15660G>A)
c.2837G>A (p.Gly946Glu)
c.2657G>A (p.Gly886Glu)
n.2920G>A
dbSNP gnomAD v2
6g.157148867G>CCA366389132ARID1Bc.3005G>C (p.Gly1002Ala)
c.2915G>C (p.Gly972Ala)
c.1019G>C (p.Gly340Ala)
c.3044G>C (p.Gly1015Ala)
c.2756G>C (p.Gly919Ala)
c.1163G>C (p.Gly388Ala)
n.906G>C
c.326G>C (p.Gly109Ala)
n.139G>C
c.244G>C
c.48G>C
c.506G>C (p.Gly169Ala)
c.2795G>C (p.Gly932Ala)
n.1754G>C
c.1022G>C (p.Gly341Ala)
n.852G>C
c.78G>C
c.1706G>C (p.Gly569Ala)
c.1526G>C (p.Gly509Ala)
c.1286G>C (p.Gly429Ala)
c.905G>C (p.Gly302Ala)
c.-20+15660G>C (n.-20+15660G>C)
c.2837G>C (p.Gly946Ala)
c.2657G>C (p.Gly886Ala)
n.2920G>C
6g.157148867G=CA1675517050ARID1Bc.3005G= (p.Gly1002=)
c.2915G= (p.Gly972=)
c.1019G= (p.Gly340=)
c.3044G= (p.Gly1015=)
c.2756G= (p.Gly919=)
c.1163G= (p.Gly388=)
n.906G=
c.326G= (p.Gly109=)
n.139G=
c.244G=
c.48G=
c.506G= (p.Gly169=)
c.2795G= (p.Gly932=)
n.1754G=
c.1022G= (p.Gly341=)
n.852G=
c.78G=
c.1706G= (p.Gly569=)
c.1526G= (p.Gly509=)
c.1286G= (p.Gly429=)
c.905G= (p.Gly302=)
c.-20+15660G= (n.-20+15660G=)
c.2837G= (p.Gly946=)
c.2657G= (p.Gly886=)
n.2920G=
6g.157148867G>TCA366389133ARID1Bc.3005G>T (p.Gly1002Val)
c.2915G>T (p.Gly972Val)
c.1019G>T (p.Gly340Val)
c.3044G>T (p.Gly1015Val)
c.2756G>T (p.Gly919Val)
c.1163G>T (p.Gly388Val)
n.906G>T
c.326G>T (p.Gly109Val)
n.139G>T
c.244G>T
c.48G>T
c.506G>T (p.Gly169Val)
c.2795G>T (p.Gly932Val)
n.1754G>T
c.1022G>T (p.Gly341Val)
n.852G>T
c.78G>T
c.1706G>T (p.Gly569Val)
c.1526G>T (p.Gly509Val)
c.1286G>T (p.Gly429Val)
c.905G>T (p.Gly302Val)
c.-20+15660G>T (n.-20+15660G>T)
c.2837G>T (p.Gly946Val)
c.2657G>T (p.Gly886Val)
n.2920G>T
6g.157148868G>ACA4067173ARID1Bc.3006G>A (p.Gly1002=)
c.2916G>A (p.Gly972=)
c.1020G>A (p.Gly340=)
c.3045G>A (p.Gly1015=)
c.2757G>A (p.Gly919=)
c.1164G>A (p.Gly388=)
n.907G>A
c.327G>A (p.Gly109=)
n.140G>A
c.245G>A
c.49G>A
c.507G>A (p.Gly169=)
c.2796G>A (p.Gly932=)
n.1755G>A
c.1023G>A (p.Gly341=)
n.853G>A
c.79G>A
c.1707G>A (p.Gly569=)
c.1527G>A (p.Gly509=)
c.1287G>A (p.Gly429=)
c.906G>A (p.Gly302=)
c.-20+15661G>A (n.-20+15661G>A)
c.2838G>A (p.Gly946=)
c.2658G>A (p.Gly886=)
n.2921G>A
dbSNP ExAC gnomAD v2 gnomAD v4
6g.157148868G>CCA452990365ARID1Bc.3006G>C (p.Gly1002=)
c.2916G>C (p.Gly972=)
c.1020G>C (p.Gly340=)
c.3045G>C (p.Gly1015=)
c.2757G>C (p.Gly919=)
c.1164G>C (p.Gly388=)
n.907G>C
c.327G>C (p.Gly109=)
n.140G>C
c.245G>C
c.49G>C
c.507G>C (p.Gly169=)
c.2796G>C (p.Gly932=)
n.1755G>C
c.1023G>C (p.Gly341=)
n.853G>C
c.79G>C
c.1707G>C (p.Gly569=)
c.1527G>C (p.Gly509=)
c.1287G>C (p.Gly429=)
c.906G>C (p.Gly302=)
c.-20+15661G>C (n.-20+15661G>C)
c.2838G>C (p.Gly946=)
c.2658G>C (p.Gly886=)
n.2921G>C
dbSNP gnomAD v2 gnomAD v4
6g.157148868G=CA1675517051ARID1Bc.3006G= (p.Gly1002=)
c.2916G= (p.Gly972=)
c.1020G= (p.Gly340=)
c.3045G= (p.Gly1015=)
c.2757G= (p.Gly919=)
c.1164G= (p.Gly388=)
n.907G=
c.327G= (p.Gly109=)
n.140G=
c.245G=
c.49G=
c.507G= (p.Gly169=)
c.2796G= (p.Gly932=)
n.1755G=
c.1023G= (p.Gly341=)
n.853G=
c.79G=
c.1707G= (p.Gly569=)
c.1527G= (p.Gly509=)
c.1287G= (p.Gly429=)
c.906G= (p.Gly302=)
c.-20+15661G= (n.-20+15661G=)
c.2838G= (p.Gly946=)
c.2658G= (p.Gly886=)
n.2921G=
6g.157148868G>TCA452990367ARID1Bc.3006G>T (p.Gly1002=)
c.2916G>T (p.Gly972=)
c.1020G>T (p.Gly340=)
c.3045G>T (p.Gly1015=)
c.2757G>T (p.Gly919=)
c.1164G>T (p.Gly388=)
n.907G>T
c.327G>T (p.Gly109=)
n.140G>T
c.245G>T
c.49G>T
c.507G>T (p.Gly169=)
c.2796G>T (p.Gly932=)
n.1755G>T
c.1023G>T (p.Gly341=)
n.853G>T
c.79G>T
c.1707G>T (p.Gly569=)
c.1527G>T (p.Gly509=)
c.1287G>T (p.Gly429=)
c.906G>T (p.Gly302=)
c.-20+15661G>T (n.-20+15661G>T)
c.2838G>T (p.Gly946=)
c.2658G>T (p.Gly886=)
n.2921G>T
dbSNP gnomAD v4
6g.157148869C>ACA366389134ARID1Bc.3007C>A (p.Pro1003Thr)
c.2917C>A (p.Pro973Thr)
c.1021C>A (p.Pro341Thr)
c.3046C>A (p.Pro1016Thr)
c.2758C>A (p.Pro920Thr)
c.1165C>A (p.Pro389Thr)
n.908C>A
c.328C>A (p.Pro110Thr)
n.141C>A
c.246C>A
c.50C>A
c.508C>A (p.Pro170Thr)
c.2797C>A (p.Pro933Thr)
n.1756C>A
c.1024C>A (p.Pro342Thr)
n.854C>A
c.80C>A
c.1708C>A (p.Pro570Thr)
c.1528C>A (p.Pro510Thr)
c.1288C>A (p.Pro430Thr)
c.907C>A (p.Pro303Thr)
c.-20+15662C>A (n.-20+15662C>A)
c.2839C>A (p.Pro947Thr)
c.2659C>A (p.Pro887Thr)
n.2922C>A
ClinVar dbSNP gnomAD v2 gnomAD v4
6g.157148869C=CA1675517052ARID1Bc.3007C= (p.Pro1003=)
c.2917C= (p.Pro973=)
c.1021C= (p.Pro341=)
c.3046C= (p.Pro1016=)
c.2758C= (p.Pro920=)
c.1165C= (p.Pro389=)
n.908C=
c.328C= (p.Pro110=)
n.141C=
c.246C=
c.50C=
c.508C= (p.Pro170=)
c.2797C= (p.Pro933=)
n.1756C=
c.1024C= (p.Pro342=)
n.854C=
c.80C=
c.1708C= (p.Pro570=)
c.1528C= (p.Pro510=)
c.1288C= (p.Pro430=)
c.907C= (p.Pro303=)
c.-20+15662C= (n.-20+15662C=)
c.2839C= (p.Pro947=)
c.2659C= (p.Pro887=)
n.2922C=
6g.157148869C>GCA366389135ARID1Bc.3007C>G (p.Pro1003Ala)
c.2917C>G (p.Pro973Ala)
c.1021C>G (p.Pro341Ala)
c.3046C>G (p.Pro1016Ala)
c.2758C>G (p.Pro920Ala)
c.1165C>G (p.Pro389Ala)
n.908C>G
c.328C>G (p.Pro110Ala)
n.141C>G
c.246C>G
c.50C>G
c.508C>G (p.Pro170Ala)
c.2797C>G (p.Pro933Ala)
n.1756C>G
c.1024C>G (p.Pro342Ala)
n.854C>G
c.80C>G
c.1708C>G (p.Pro570Ala)
c.1528C>G (p.Pro510Ala)
c.1288C>G (p.Pro430Ala)
c.907C>G (p.Pro303Ala)
c.-20+15662C>G (n.-20+15662C>G)
c.2839C>G (p.Pro947Ala)
c.2659C>G (p.Pro887Ala)
n.2922C>G
6g.157148869C>TCA366389136ARID1Bc.3007C>T (p.Pro1003Ser)
c.2917C>T (p.Pro973Ser)
c.1021C>T (p.Pro341Ser)
c.3046C>T (p.Pro1016Ser)
c.2758C>T (p.Pro920Ser)
c.1165C>T (p.Pro389Ser)
n.908C>T
c.328C>T (p.Pro110Ser)
n.141C>T
c.246C>T
c.50C>T
c.508C>T (p.Pro170Ser)
c.2797C>T (p.Pro933Ser)
n.1756C>T
c.1024C>T (p.Pro342Ser)
n.854C>T
c.80C>T
c.1708C>T (p.Pro570Ser)
c.1528C>T (p.Pro510Ser)
c.1288C>T (p.Pro430Ser)
c.907C>T (p.Pro303Ser)
c.-20+15662C>T (n.-20+15662C>T)
c.2839C>T (p.Pro947Ser)
c.2659C>T (p.Pro887Ser)
n.2922C>T
dbSNP
6g.157148870C>ACA366389139ARID1Bc.3008C>A (p.Pro1003Gln)
c.2918C>A (p.Pro973Gln)
c.1022C>A (p.Pro341Gln)
c.3047C>A (p.Pro1016Gln)
c.2759C>A (p.Pro920Gln)
c.1166C>A (p.Pro389Gln)
n.909C>A
c.329C>A (p.Pro110Gln)
n.142C>A
c.247C>A
c.51C>A
c.509C>A (p.Pro170Gln)
c.2798C>A (p.Pro933Gln)
n.1757C>A
c.1025C>A (p.Pro342Gln)
n.855C>A
c.81C>A
c.1709C>A (p.Pro570Gln)
c.1529C>A (p.Pro510Gln)
c.1289C>A (p.Pro430Gln)
c.908C>A (p.Pro303Gln)
c.-20+15663C>A (n.-20+15663C>A)
c.2840C>A (p.Pro947Gln)
c.2660C>A (p.Pro887Gln)
n.2923C>A
6g.157148870C>GCA366389138ARID1Bc.3008C>G (p.Pro1003Arg)
c.2918C>G (p.Pro973Arg)
c.1022C>G (p.Pro341Arg)
c.3047C>G (p.Pro1016Arg)
c.2759C>G (p.Pro920Arg)
c.1166C>G (p.Pro389Arg)
n.909C>G
c.329C>G (p.Pro110Arg)
n.142C>G
c.247C>G
c.51C>G
c.509C>G (p.Pro170Arg)
c.2798C>G (p.Pro933Arg)
n.1757C>G
c.1025C>G (p.Pro342Arg)
n.855C>G
c.81C>G
c.1709C>G (p.Pro570Arg)
c.1529C>G (p.Pro510Arg)
c.1289C>G (p.Pro430Arg)
c.908C>G (p.Pro303Arg)
c.-20+15663C>G (n.-20+15663C>G)
c.2840C>G (p.Pro947Arg)
c.2660C>G (p.Pro887Arg)
n.2923C>G
6g.157148870C>TCA366389137ARID1Bc.3008C>T (p.Pro1003Leu)
c.2918C>T (p.Pro973Leu)
c.1022C>T (p.Pro341Leu)
c.3047C>T (p.Pro1016Leu)
c.2759C>T (p.Pro920Leu)
c.1166C>T (p.Pro389Leu)
n.909C>T
c.329C>T (p.Pro110Leu)
n.142C>T
c.247C>T
c.51C>T
c.509C>T (p.Pro170Leu)
c.2798C>T (p.Pro933Leu)
n.1757C>T
c.1025C>T (p.Pro342Leu)
n.855C>T
c.81C>T
c.1709C>T (p.Pro570Leu)
c.1529C>T (p.Pro510Leu)
c.1289C>T (p.Pro430Leu)
c.908C>T (p.Pro303Leu)
c.-20+15663C>T (n.-20+15663C>T)
c.2840C>T (p.Pro947Leu)
c.2660C>T (p.Pro887Leu)
n.2923C>T
gnomAD v4
6g.157148871G>ACA151044ARID1Bc.3009G>A (p.Pro1003=)
c.2919G>A (p.Pro973=)
c.1023G>A (p.Pro341=)
c.3048G>A (p.Pro1016=)
c.2760G>A (p.Pro920=)
c.1167G>A (p.Pro389=)
n.910G>A
c.330G>A (p.Pro110=)
n.143G>A
c.248G>A
c.52G>A
c.510G>A (p.Pro170=)
c.2799G>A (p.Pro933=)
n.1758G>A
c.1026G>A (p.Pro342=)
n.856G>A
c.82G>A
c.1710G>A (p.Pro570=)
c.1530G>A (p.Pro510=)
c.1290G>A (p.Pro430=)
c.909G>A (p.Pro303=)
c.-20+15664G>A (n.-20+15664G>A)
c.2841G>A (p.Pro947=)
c.2661G>A (p.Pro887=)
n.2924G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.157148871G>CCA452990372ARID1Bc.3009G>C (p.Pro1003=)
c.2919G>C (p.Pro973=)
c.1023G>C (p.Pro341=)
c.3048G>C (p.Pro1016=)
c.2760G>C (p.Pro920=)
c.1167G>C (p.Pro389=)
n.910G>C
c.330G>C (p.Pro110=)
n.143G>C
c.248G>C
c.52G>C
c.510G>C (p.Pro170=)
c.2799G>C (p.Pro933=)
n.1758G>C
c.1026G>C (p.Pro342=)
n.856G>C
c.82G>C
c.1710G>C (p.Pro570=)
c.1530G>C (p.Pro510=)
c.1290G>C (p.Pro430=)
c.909G>C (p.Pro303=)
c.-20+15664G>C (n.-20+15664G>C)
c.2841G>C (p.Pro947=)
c.2661G>C (p.Pro887=)
n.2924G>C
6g.157148871G=CA1675517053ARID1Bc.3009G= (p.Pro1003=)
c.2919G= (p.Pro973=)
c.1023G= (p.Pro341=)
c.3048G= (p.Pro1016=)
c.2760G= (p.Pro920=)
c.1167G= (p.Pro389=)
n.910G=
c.330G= (p.Pro110=)
n.143G=
c.248G=
c.52G=
c.510G= (p.Pro170=)
c.2799G= (p.Pro933=)
n.1758G=
c.1026G= (p.Pro342=)
n.856G=
c.82G=
c.1710G= (p.Pro570=)
c.1530G= (p.Pro510=)
c.1290G= (p.Pro430=)
c.909G= (p.Pro303=)
c.-20+15664G= (n.-20+15664G=)
c.2841G= (p.Pro947=)
c.2661G= (p.Pro887=)
n.2924G=
6g.157148871G>TCA452990373ARID1Bc.3009G>T (p.Pro1003=)
c.2919G>T (p.Pro973=)
c.1023G>T (p.Pro341=)
c.3048G>T (p.Pro1016=)
c.2760G>T (p.Pro920=)
c.1167G>T (p.Pro389=)
n.910G>T
c.330G>T (p.Pro110=)
n.143G>T
c.248G>T
c.52G>T
c.510G>T (p.Pro170=)
c.2799G>T (p.Pro933=)
n.1758G>T
c.1026G>T (p.Pro342=)
n.856G>T
c.82G>T
c.1710G>T (p.Pro570=)
c.1530G>T (p.Pro510=)
c.1290G>T (p.Pro430=)
c.909G>T (p.Pro303=)
c.-20+15664G>T (n.-20+15664G>T)
c.2841G>T (p.Pro947=)
c.2661G>T (p.Pro887=)
n.2924G>T
gnomAD v4
6g.157148872C>ACA366389140ARID1Bc.3010C>A (p.Pro1004Thr)
c.2920C>A (p.Pro974Thr)
c.1024C>A (p.Pro342Thr)
c.3049C>A (p.Pro1017Thr)
c.2761C>A (p.Pro921Thr)
c.1168C>A (p.Pro390Thr)
n.911C>A
c.331C>A (p.Pro111Thr)
n.144C>A
c.249C>A
c.53C>A
c.511C>A (p.Pro171Thr)
c.2800C>A (p.Pro934Thr)
n.1759C>A
c.1027C>A (p.Pro343Thr)
n.857C>A
c.83C>A
c.1711C>A (p.Pro571Thr)
c.1531C>A (p.Pro511Thr)
c.1291C>A (p.Pro431Thr)
c.910C>A (p.Pro304Thr)
c.-20+15665C>A (n.-20+15665C>A)
c.2842C>A (p.Pro948Thr)
c.2662C>A (p.Pro888Thr)
n.2925C>A
6g.157148872C=CA1675517054ARID1Bc.3010C= (p.Pro1004=)
c.2920C= (p.Pro974=)
c.1024C= (p.Pro342=)
c.3049C= (p.Pro1017=)
c.2761C= (p.Pro921=)
c.1168C= (p.Pro390=)
n.911C=
c.331C= (p.Pro111=)
n.144C=
c.249C=
c.53C=
c.511C= (p.Pro171=)
c.2800C= (p.Pro934=)
n.1759C=
c.1027C= (p.Pro343=)
n.857C=
c.83C=
c.1711C= (p.Pro571=)
c.1531C= (p.Pro511=)
c.1291C= (p.Pro431=)
c.910C= (p.Pro304=)
c.-20+15665C= (n.-20+15665C=)
c.2842C= (p.Pro948=)
c.2662C= (p.Pro888=)
n.2925C=
6g.157148872C>GCA366389141ARID1Bc.3010C>G (p.Pro1004Ala)
c.2920C>G (p.Pro974Ala)
c.1024C>G (p.Pro342Ala)
c.3049C>G (p.Pro1017Ala)
c.2761C>G (p.Pro921Ala)
c.1168C>G (p.Pro390Ala)
n.911C>G
c.331C>G (p.Pro111Ala)
n.144C>G
c.249C>G
c.53C>G
c.511C>G (p.Pro171Ala)
c.2800C>G (p.Pro934Ala)
n.1759C>G
c.1027C>G (p.Pro343Ala)
n.857C>G
c.83C>G
c.1711C>G (p.Pro571Ala)
c.1531C>G (p.Pro511Ala)
c.1291C>G (p.Pro431Ala)
c.910C>G (p.Pro304Ala)
c.-20+15665C>G (n.-20+15665C>G)
c.2842C>G (p.Pro948Ala)
c.2662C>G (p.Pro888Ala)
n.2925C>G
dbSNP gnomAD v3 gnomAD v4
6g.157148872C>TCA366389142ARID1Bc.3010C>T (p.Pro1004Ser)
c.2920C>T (p.Pro974Ser)
c.1024C>T (p.Pro342Ser)
c.3049C>T (p.Pro1017Ser)
c.2761C>T (p.Pro921Ser)
c.1168C>T (p.Pro390Ser)
n.911C>T
c.331C>T (p.Pro111Ser)
n.144C>T
c.249C>T
c.53C>T
c.511C>T (p.Pro171Ser)
c.2800C>T (p.Pro934Ser)
n.1759C>T
c.1027C>T (p.Pro343Ser)
n.857C>T
c.83C>T
c.1711C>T (p.Pro571Ser)
c.1531C>T (p.Pro511Ser)
c.1291C>T (p.Pro431Ser)
c.910C>T (p.Pro304Ser)
c.-20+15665C>T (n.-20+15665C>T)
c.2842C>T (p.Pro948Ser)
c.2662C>T (p.Pro888Ser)
n.2925C>T
dbSNP gnomAD v4
6g.157148873C>ACA366389143ARID1Bc.3011C>A (p.Pro1004Gln)
c.2921C>A (p.Pro974Gln)
c.1025C>A (p.Pro342Gln)
c.3050C>A (p.Pro1017Gln)
c.2762C>A (p.Pro921Gln)
c.1169C>A (p.Pro390Gln)
n.912C>A
c.332C>A (p.Pro111Gln)
n.145C>A
c.250C>A
c.54C>A
c.512C>A (p.Pro171Gln)
c.2801C>A (p.Pro934Gln)
n.1760C>A
c.1028C>A (p.Pro343Gln)
n.858C>A
c.84C>A
c.1712C>A (p.Pro571Gln)
c.1532C>A (p.Pro511Gln)
c.1292C>A (p.Pro431Gln)
c.911C>A (p.Pro304Gln)
c.-20+15666C>A (n.-20+15666C>A)
c.2843C>A (p.Pro948Gln)
c.2663C>A (p.Pro888Gln)
n.2926C>A
6g.157148873C>GCA366389144ARID1Bc.3011C>G (p.Pro1004Arg)
c.2921C>G (p.Pro974Arg)
c.1025C>G (p.Pro342Arg)
c.3050C>G (p.Pro1017Arg)
c.2762C>G (p.Pro921Arg)
c.1169C>G (p.Pro390Arg)
n.912C>G
c.332C>G (p.Pro111Arg)
n.145C>G
c.250C>G
c.54C>G
c.512C>G (p.Pro171Arg)
c.2801C>G (p.Pro934Arg)
n.1760C>G
c.1028C>G (p.Pro343Arg)
n.858C>G
c.84C>G
c.1712C>G (p.Pro571Arg)
c.1532C>G (p.Pro511Arg)
c.1292C>G (p.Pro431Arg)
c.911C>G (p.Pro304Arg)
c.-20+15666C>G (n.-20+15666C>G)
c.2843C>G (p.Pro948Arg)
c.2663C>G (p.Pro888Arg)
n.2926C>G
6g.157148873C>TCA366389145ARID1Bc.3011C>T (p.Pro1004Leu)
c.2921C>T (p.Pro974Leu)
c.1025C>T (p.Pro342Leu)
c.3050C>T (p.Pro1017Leu)
c.2762C>T (p.Pro921Leu)
c.1169C>T (p.Pro390Leu)
n.912C>T
c.332C>T (p.Pro111Leu)
n.145C>T
c.250C>T
c.54C>T
c.512C>T (p.Pro171Leu)
c.2801C>T (p.Pro934Leu)
n.1760C>T
c.1028C>T (p.Pro343Leu)
n.858C>T
c.84C>T
c.1712C>T (p.Pro571Leu)
c.1532C>T (p.Pro511Leu)
c.1292C>T (p.Pro431Leu)
c.911C>T (p.Pro304Leu)
c.-20+15666C>T (n.-20+15666C>T)
c.2843C>T (p.Pro948Leu)
c.2663C>T (p.Pro888Leu)
n.2926C>T
6g.157148874A=CA1675517055ARID1Bc.3012A= (p.Pro1004=)
c.2922A= (p.Pro974=)
c.1026A= (p.Pro342=)
c.3051A= (p.Pro1017=)
c.2763A= (p.Pro921=)
c.1170A= (p.Pro390=)
n.913A=
c.333A= (p.Pro111=)
n.146A=
c.251A=
c.55A=
c.513A= (p.Pro171=)
c.2802A= (p.Pro934=)
n.1761A=
c.1029A= (p.Pro343=)
n.859A=
c.85A=
c.1713A= (p.Pro571=)
c.1533A= (p.Pro511=)
c.1293A= (p.Pro431=)
c.912A= (p.Pro304=)
c.-20+15667A= (n.-20+15667A=)
c.2844A= (p.Pro948=)
c.2664A= (p.Pro888=)
n.2927A=
6g.157148874A>CCA452990379ARID1Bc.3012A>C (p.Pro1004=)
c.2922A>C (p.Pro974=)
c.1026A>C (p.Pro342=)
c.3051A>C (p.Pro1017=)
c.2763A>C (p.Pro921=)
c.1170A>C (p.Pro390=)
n.913A>C
c.333A>C (p.Pro111=)
n.146A>C
c.251A>C
c.55A>C
c.513A>C (p.Pro171=)
c.2802A>C (p.Pro934=)
n.1761A>C
c.1029A>C (p.Pro343=)
n.859A>C
c.85A>C
c.1713A>C (p.Pro571=)
c.1533A>C (p.Pro511=)
c.1293A>C (p.Pro431=)
c.912A>C (p.Pro304=)
c.-20+15667A>C (n.-20+15667A>C)
c.2844A>C (p.Pro948=)
c.2664A>C (p.Pro888=)
n.2927A>C
6g.157148874A>GCA452990381ARID1Bc.3012A>G (p.Pro1004=)
c.2922A>G (p.Pro974=)
c.1026A>G (p.Pro342=)
c.3051A>G (p.Pro1017=)
c.2763A>G (p.Pro921=)
c.1170A>G (p.Pro390=)
n.913A>G
c.333A>G (p.Pro111=)
n.146A>G
c.251A>G
c.55A>G
c.513A>G (p.Pro171=)
c.2802A>G (p.Pro934=)
n.1761A>G
c.1029A>G (p.Pro343=)
n.859A>G
c.85A>G
c.1713A>G (p.Pro571=)
c.1533A>G (p.Pro511=)
c.1293A>G (p.Pro431=)
c.912A>G (p.Pro304=)
c.-20+15667A>G (n.-20+15667A>G)
c.2844A>G (p.Pro948=)
c.2664A>G (p.Pro888=)
n.2927A>G
dbSNP gnomAD v3 gnomAD v4
6g.157148874A>TCA452990382ARID1Bc.3012A>T (p.Pro1004=)
c.2922A>T (p.Pro974=)
c.1026A>T (p.Pro342=)
c.3051A>T (p.Pro1017=)
c.2763A>T (p.Pro921=)
c.1170A>T (p.Pro390=)
n.913A>T
c.333A>T (p.Pro111=)
n.146A>T
c.251A>T
c.55A>T
c.513A>T (p.Pro171=)
c.2802A>T (p.Pro934=)
n.1761A>T
c.1029A>T (p.Pro343=)
n.859A>T
c.85A>T
c.1713A>T (p.Pro571=)
c.1533A>T (p.Pro511=)
c.1293A>T (p.Pro431=)
c.912A>T (p.Pro304=)
c.-20+15667A>T (n.-20+15667A>T)
c.2844A>T (p.Pro948=)
c.2664A>T (p.Pro888=)
n.2927A>T
6g.157148875dupCA2695207304ARID1Bc.3013dup (p.Met1005AsnfsTer7)
c.2923dup (p.Met975AsnfsTer7)
c.1027dup (p.Met343AsnfsTer7)
c.3052dup (p.Met1018AsnfsTer7)
c.2764dup (p.Met922AsnfsTer7)
c.1171dup (p.Met391AsnfsTer7)
n.914dup
c.334dup (p.Met112AsnfsTer7)
n.147dup
c.252dup
c.56dup
c.514dup (p.Met172AsnfsTer7)
c.2803dup (p.Met935AsnfsTer7)
n.1762dup
c.1030dup (p.Met344AsnfsTer7)
n.860dup
c.86dup
c.1714dup (p.Met572AsnfsTer7)
c.1534dup (p.Met512AsnfsTer7)
c.1294dup (p.Met432AsnfsTer7)
c.913dup (p.Met305AsnfsTer7)
c.-20+15668dup (n.-20+15668dup)
c.2845dup (p.Met949AsnfsTer7)
c.2665dup (p.Met889AsnfsTer7)
n.2928dup
6g.157148875A=CA1675517056ARID1Bc.3013A= (p.Met1005=)
c.2923A= (p.Met975=)
c.1027A= (p.Met343=)
c.3052A= (p.Met1018=)
c.2764A= (p.Met922=)
c.1171A= (p.Met391=)
n.914A=
c.334A= (p.Met112=)
n.147A=
c.252A=
c.56A=
c.514A= (p.Met172=)
c.2803A= (p.Met935=)
n.1762A=
c.1030A= (p.Met344=)
n.860A=
c.86A=
c.1714A= (p.Met572=)
c.1534A= (p.Met512=)
c.1294A= (p.Met432=)
c.913A= (p.Met305=)
c.-20+15668A= (n.-20+15668A=)
c.2845A= (p.Met949=)
c.2665A= (p.Met889=)
n.2928A=
6g.157148875A>CCA366389146ARID1Bc.3013A>C (p.Met1005Leu)
c.2923A>C (p.Met975Leu)
c.1027A>C (p.Met343Leu)
c.3052A>C (p.Met1018Leu)
c.2764A>C (p.Met922Leu)
c.1171A>C (p.Met391Leu)
n.914A>C
c.334A>C (p.Met112Leu)
n.147A>C
c.252A>C
c.56A>C
c.514A>C (p.Met172Leu)
c.2803A>C (p.Met935Leu)
n.1762A>C
c.1030A>C (p.Met344Leu)
n.860A>C
c.86A>C
c.1714A>C (p.Met572Leu)
c.1534A>C (p.Met512Leu)
c.1294A>C (p.Met432Leu)
c.913A>C (p.Met305Leu)
c.-20+15668A>C (n.-20+15668A>C)
c.2845A>C (p.Met949Leu)
c.2665A>C (p.Met889Leu)
n.2928A>C
6g.157148875A>GCA4067175ARID1Bc.3013A>G (p.Met1005Val)
c.2923A>G (p.Met975Val)
c.1027A>G (p.Met343Val)
c.3052A>G (p.Met1018Val)
c.2764A>G (p.Met922Val)
c.1171A>G (p.Met391Val)
n.914A>G
c.334A>G (p.Met112Val)
n.147A>G
c.252A>G
c.56A>G
c.514A>G (p.Met172Val)
c.2803A>G (p.Met935Val)
n.1762A>G
c.1030A>G (p.Met344Val)
n.860A>G
c.86A>G
c.1714A>G (p.Met572Val)
c.1534A>G (p.Met512Val)
c.1294A>G (p.Met432Val)
c.913A>G (p.Met305Val)
c.-20+15668A>G (n.-20+15668A>G)
c.2845A>G (p.Met949Val)
c.2665A>G (p.Met889Val)
n.2928A>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.157148875A>TCA4067174ARID1Bc.3013A>T (p.Met1005Leu)
c.2923A>T (p.Met975Leu)
c.1027A>T (p.Met343Leu)
c.3052A>T (p.Met1018Leu)
c.2764A>T (p.Met922Leu)
c.1171A>T (p.Met391Leu)
n.914A>T
c.334A>T (p.Met112Leu)
n.147A>T
c.252A>T
c.56A>T
c.514A>T (p.Met172Leu)
c.2803A>T (p.Met935Leu)
n.1762A>T
c.1030A>T (p.Met344Leu)
n.860A>T
c.86A>T
c.1714A>T (p.Met572Leu)
c.1534A>T (p.Met512Leu)
c.1294A>T (p.Met432Leu)
c.913A>T (p.Met305Leu)
c.-20+15668A>T (n.-20+15668A>T)
c.2845A>T (p.Met949Leu)
c.2665A>T (p.Met889Leu)
n.2928A>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.157148876T>ACA366389147ARID1Bc.3014T>A (p.Met1005Lys)
c.2924T>A (p.Met975Lys)
c.1028T>A (p.Met343Lys)
c.3053T>A (p.Met1018Lys)
c.2765T>A (p.Met922Lys)
c.1172T>A (p.Met391Lys)
n.915T>A
c.335T>A (p.Met112Lys)
n.148T>A
c.253T>A
c.57T>A
c.515T>A (p.Met172Lys)
c.2804T>A (p.Met935Lys)
n.1763T>A
c.1031T>A (p.Met344Lys)
n.861T>A
c.87T>A
c.1715T>A (p.Met572Lys)
c.1535T>A (p.Met512Lys)
c.1295T>A (p.Met432Lys)
c.914T>A (p.Met305Lys)
c.-20+15669T>A (n.-20+15669T>A)
c.2846T>A (p.Met949Lys)
c.2666T>A (p.Met889Lys)
n.2929T>A
6g.157148876T>CCA366389148ARID1Bc.3014T>C (p.Met1005Thr)
c.2924T>C (p.Met975Thr)
c.1028T>C (p.Met343Thr)
c.3053T>C (p.Met1018Thr)
c.2765T>C (p.Met922Thr)
c.1172T>C (p.Met391Thr)
n.915T>C
c.335T>C (p.Met112Thr)
n.148T>C
c.253T>C
c.57T>C
c.515T>C (p.Met172Thr)
c.2804T>C (p.Met935Thr)
n.1763T>C
c.1031T>C (p.Met344Thr)
n.861T>C
c.87T>C
c.1715T>C (p.Met572Thr)
c.1535T>C (p.Met512Thr)
c.1295T>C (p.Met432Thr)
c.914T>C (p.Met305Thr)
c.-20+15669T>C (n.-20+15669T>C)
c.2846T>C (p.Met949Thr)
c.2666T>C (p.Met889Thr)
n.2929T>C
dbSNP gnomAD v2 gnomAD v4
6g.157148876T>GCA366389149ARID1Bc.3014T>G (p.Met1005Arg)
c.2924T>G (p.Met975Arg)
c.1028T>G (p.Met343Arg)
c.3053T>G (p.Met1018Arg)
c.2765T>G (p.Met922Arg)
c.1172T>G (p.Met391Arg)
n.915T>G
c.335T>G (p.Met112Arg)
n.148T>G
c.253T>G
c.57T>G
c.515T>G (p.Met172Arg)
c.2804T>G (p.Met935Arg)
n.1763T>G
c.1031T>G (p.Met344Arg)
n.861T>G
c.87T>G
c.1715T>G (p.Met572Arg)
c.1535T>G (p.Met512Arg)
c.1295T>G (p.Met432Arg)
c.914T>G (p.Met305Arg)
c.-20+15669T>G (n.-20+15669T>G)
c.2846T>G (p.Met949Arg)
c.2666T>G (p.Met889Arg)
n.2929T>G
6g.157148876T=CA1675517057ARID1Bc.3014T= (p.Met1005=)
c.2924T= (p.Met975=)
c.1028T= (p.Met343=)
c.3053T= (p.Met1018=)
c.2765T= (p.Met922=)
c.1172T= (p.Met391=)
n.915T=
c.335T= (p.Met112=)
n.148T=
c.253T=
c.57T=
c.515T= (p.Met172=)
c.2804T= (p.Met935=)
n.1763T=
c.1031T= (p.Met344=)
n.861T=
c.87T=
c.1715T= (p.Met572=)
c.1535T= (p.Met512=)
c.1295T= (p.Met432=)
c.914T= (p.Met305=)
c.-20+15669T= (n.-20+15669T=)
c.2846T= (p.Met949=)
c.2666T= (p.Met889=)
n.2929T=
6g.157148877G>ACA366389152ARID1Bc.3015G>A (p.Met1005Ile)
c.2925G>A (p.Met975Ile)
c.1029G>A (p.Met343Ile)
c.3054G>A (p.Met1018Ile)
c.2766G>A (p.Met922Ile)
c.1173G>A (p.Met391Ile)
n.916G>A
c.336G>A (p.Met112Ile)
n.149G>A
c.254G>A
c.58G>A
c.516G>A (p.Met172Ile)
c.2805G>A (p.Met935Ile)
n.1764G>A
c.1032G>A (p.Met344Ile)
n.862G>A
c.88G>A
c.1716G>A (p.Met572Ile)
c.1536G>A (p.Met512Ile)
c.1296G>A (p.Met432Ile)
c.915G>A (p.Met305Ile)
c.-20+15670G>A (n.-20+15670G>A)
c.2847G>A (p.Met949Ile)
c.2667G>A (p.Met889Ile)
n.2930G>A
dbSNP
6g.157148877G>CCA366389150ARID1Bc.3015G>C (p.Met1005Ile)
c.2925G>C (p.Met975Ile)
c.1029G>C (p.Met343Ile)
c.3054G>C (p.Met1018Ile)
c.2766G>C (p.Met922Ile)
c.1173G>C (p.Met391Ile)
n.916G>C
c.336G>C (p.Met112Ile)
n.149G>C
c.254G>C
c.58G>C
c.516G>C (p.Met172Ile)
c.2805G>C (p.Met935Ile)
n.1764G>C
c.1032G>C (p.Met344Ile)
n.862G>C
c.88G>C
c.1716G>C (p.Met572Ile)
c.1536G>C (p.Met512Ile)
c.1296G>C (p.Met432Ile)
c.915G>C (p.Met305Ile)
c.-20+15670G>C (n.-20+15670G>C)
c.2847G>C (p.Met949Ile)
c.2667G>C (p.Met889Ile)
n.2930G>C
6g.157148877G>TCA366389151ARID1Bc.3015G>T (p.Met1005Ile)
c.2925G>T (p.Met975Ile)
c.1029G>T (p.Met343Ile)
c.3054G>T (p.Met1018Ile)
c.2766G>T (p.Met922Ile)
c.1173G>T (p.Met391Ile)
n.916G>T
c.336G>T (p.Met112Ile)
n.149G>T
c.254G>T
c.58G>T
c.516G>T (p.Met172Ile)
c.2805G>T (p.Met935Ile)
n.1764G>T
c.1032G>T (p.Met344Ile)
n.862G>T
c.88G>T
c.1716G>T (p.Met572Ile)
c.1536G>T (p.Met512Ile)
c.1296G>T (p.Met432Ile)
c.915G>T (p.Met305Ile)
c.-20+15670G>T (n.-20+15670G>T)
c.2847G>T (p.Met949Ile)
c.2667G>T (p.Met889Ile)
n.2930G>T
6g.157148878C>ACA366389153ARID1Bc.3016C>A (p.Pro1006Thr)
c.2926C>A (p.Pro976Thr)
c.1030C>A (p.Pro344Thr)
c.3055C>A (p.Pro1019Thr)
c.2767C>A (p.Pro923Thr)
c.1174C>A (p.Pro392Thr)
n.917C>A
c.337C>A (p.Pro113Thr)
n.150C>A
c.255C>A
c.59C>A
c.517C>A (p.Pro173Thr)
c.2806C>A (p.Pro936Thr)
n.1765C>A
c.1033C>A (p.Pro345Thr)
n.863C>A
c.89C>A
c.1717C>A (p.Pro573Thr)
c.1537C>A (p.Pro513Thr)
c.1297C>A (p.Pro433Thr)
c.916C>A (p.Pro306Thr)
c.-20+15671C>A (n.-20+15671C>A)
c.2848C>A (p.Pro950Thr)
c.2668C>A (p.Pro890Thr)
n.2931C>A
dbSNP
6g.157148878C=CA1675517058ARID1Bc.3016C= (p.Pro1006=)
c.2926C= (p.Pro976=)
c.1030C= (p.Pro344=)
c.3055C= (p.Pro1019=)
c.2767C= (p.Pro923=)
c.1174C= (p.Pro392=)
n.917C=
c.337C= (p.Pro113=)
n.150C=
c.255C=
c.59C=
c.517C= (p.Pro173=)
c.2806C= (p.Pro936=)
n.1765C=
c.1033C= (p.Pro345=)
n.863C=
c.89C=
c.1717C= (p.Pro573=)
c.1537C= (p.Pro513=)
c.1297C= (p.Pro433=)
c.916C= (p.Pro306=)
c.-20+15671C= (n.-20+15671C=)
c.2848C= (p.Pro950=)
c.2668C= (p.Pro890=)
n.2931C=
6g.157148878C>GCA366389154ARID1Bc.3016C>G (p.Pro1006Ala)
c.2926C>G (p.Pro976Ala)
c.1030C>G (p.Pro344Ala)
c.3055C>G (p.Pro1019Ala)
c.2767C>G (p.Pro923Ala)
c.1174C>G (p.Pro392Ala)
n.917C>G
c.337C>G (p.Pro113Ala)
n.150C>G
c.255C>G
c.59C>G
c.517C>G (p.Pro173Ala)
c.2806C>G (p.Pro936Ala)
n.1765C>G
c.1033C>G (p.Pro345Ala)
n.863C>G
c.89C>G
c.1717C>G (p.Pro573Ala)
c.1537C>G (p.Pro513Ala)
c.1297C>G (p.Pro433Ala)
c.916C>G (p.Pro306Ala)
c.-20+15671C>G (n.-20+15671C>G)
c.2848C>G (p.Pro950Ala)
c.2668C>G (p.Pro890Ala)
n.2931C>G
dbSNP
6g.157148878C>TCA366389155ARID1Bc.3016C>T (p.Pro1006Ser)
c.2926C>T (p.Pro976Ser)
c.1030C>T (p.Pro344Ser)
c.3055C>T (p.Pro1019Ser)
c.2767C>T (p.Pro923Ser)
c.1174C>T (p.Pro392Ser)
n.917C>T
c.337C>T (p.Pro113Ser)
n.150C>T
c.255C>T
c.59C>T
c.517C>T (p.Pro173Ser)
c.2806C>T (p.Pro936Ser)
n.1765C>T
c.1033C>T (p.Pro345Ser)
n.863C>T
c.89C>T
c.1717C>T (p.Pro573Ser)
c.1537C>T (p.Pro513Ser)
c.1297C>T (p.Pro433Ser)
c.916C>T (p.Pro306Ser)
c.-20+15671C>T (n.-20+15671C>T)
c.2848C>T (p.Pro950Ser)
c.2668C>T (p.Pro890Ser)
n.2931C>T
dbSNP gnomAD v4
6g.157148879C>ACA366389156ARID1Bc.3017C>A (p.Pro1006Gln)
c.2927C>A (p.Pro976Gln)
c.1031C>A (p.Pro344Gln)
c.3056C>A (p.Pro1019Gln)
c.2768C>A (p.Pro923Gln)
c.1175C>A (p.Pro392Gln)
n.918C>A
c.338C>A (p.Pro113Gln)
n.151C>A
c.256C>A
c.60C>A
c.518C>A (p.Pro173Gln)
c.2807C>A (p.Pro936Gln)
n.1766C>A
c.1034C>A (p.Pro345Gln)
n.864C>A
c.90C>A
c.1718C>A (p.Pro573Gln)
c.1538C>A (p.Pro513Gln)
c.1298C>A (p.Pro433Gln)
c.917C>A (p.Pro306Gln)
c.-20+15672C>A (n.-20+15672C>A)
c.2849C>A (p.Pro950Gln)
c.2669C>A (p.Pro890Gln)
n.2932C>A
6g.157148879C>GCA366389157ARID1Bc.3017C>G (p.Pro1006Arg)
c.2927C>G (p.Pro976Arg)
c.1031C>G (p.Pro344Arg)
c.3056C>G (p.Pro1019Arg)
c.2768C>G (p.Pro923Arg)
c.1175C>G (p.Pro392Arg)
n.918C>G
c.338C>G (p.Pro113Arg)
n.151C>G
c.256C>G
c.60C>G
c.518C>G (p.Pro173Arg)
c.2807C>G (p.Pro936Arg)
n.1766C>G
c.1034C>G (p.Pro345Arg)
n.864C>G
c.90C>G
c.1718C>G (p.Pro573Arg)
c.1538C>G (p.Pro513Arg)
c.1298C>G (p.Pro433Arg)
c.917C>G (p.Pro306Arg)
c.-20+15672C>G (n.-20+15672C>G)
c.2849C>G (p.Pro950Arg)
c.2669C>G (p.Pro890Arg)
n.2932C>G
6g.157148879C>TCA366389158ARID1Bc.3017C>T (p.Pro1006Leu)
c.2927C>T (p.Pro976Leu)
c.1031C>T (p.Pro344Leu)
c.3056C>T (p.Pro1019Leu)
c.2768C>T (p.Pro923Leu)
c.1175C>T (p.Pro392Leu)
n.918C>T
c.338C>T (p.Pro113Leu)
n.151C>T
c.256C>T
c.60C>T
c.518C>T (p.Pro173Leu)
c.2807C>T (p.Pro936Leu)
n.1766C>T
c.1034C>T (p.Pro345Leu)
n.864C>T
c.90C>T
c.1718C>T (p.Pro573Leu)
c.1538C>T (p.Pro513Leu)
c.1298C>T (p.Pro433Leu)
c.917C>T (p.Pro306Leu)
c.-20+15672C>T (n.-20+15672C>T)
c.2849C>T (p.Pro950Leu)
c.2669C>T (p.Pro890Leu)
n.2932C>T
6g.157148880A>CCA452990071ARID1Bc.3018A>C (p.Pro1006=)
c.2928A>C (p.Pro976=)
c.1032A>C (p.Pro344=)
c.3057A>C (p.Pro1019=)
c.2769A>C (p.Pro923=)
c.1176A>C (p.Pro392=)
n.919A>C
c.339A>C (p.Pro113=)
n.152A>C
c.257A>C
c.61A>C
c.519A>C (p.Pro173=)
c.2808A>C (p.Pro936=)
n.1767A>C
c.1035A>C (p.Pro345=)
n.865A>C
c.91A>C
c.1719A>C (p.Pro573=)
c.1539A>C (p.Pro513=)
c.1299A>C (p.Pro433=)
c.918A>C (p.Pro306=)
c.-20+15673A>C (n.-20+15673A>C)
c.2850A>C (p.Pro950=)
c.2670A>C (p.Pro890=)
n.2933A>C
6g.157148880A>GCA452990073ARID1Bc.3018A>G (p.Pro1006=)
c.2928A>G (p.Pro976=)
c.1032A>G (p.Pro344=)
c.3057A>G (p.Pro1019=)
c.2769A>G (p.Pro923=)
c.1176A>G (p.Pro392=)
n.919A>G
c.339A>G (p.Pro113=)
n.152A>G
c.257A>G
c.61A>G
c.519A>G (p.Pro173=)
c.2808A>G (p.Pro936=)
n.1767A>G
c.1035A>G (p.Pro345=)
n.865A>G
c.91A>G
c.1719A>G (p.Pro573=)
c.1539A>G (p.Pro513=)
c.1299A>G (p.Pro433=)
c.918A>G (p.Pro306=)
c.-20+15673A>G (n.-20+15673A>G)
c.2850A>G (p.Pro950=)
c.2670A>G (p.Pro890=)
n.2933A>G
6g.157148880A>TCA452990075ARID1Bc.3018A>T (p.Pro1006=)
c.2928A>T (p.Pro976=)
c.1032A>T (p.Pro344=)
c.3057A>T (p.Pro1019=)
c.2769A>T (p.Pro923=)
c.1176A>T (p.Pro392=)
n.919A>T
c.339A>T (p.Pro113=)
n.152A>T
c.257A>T
c.61A>T
c.519A>T (p.Pro173=)
c.2808A>T (p.Pro936=)
n.1767A>T
c.1035A>T (p.Pro345=)
n.865A>T
c.91A>T
c.1719A>T (p.Pro573=)
c.1539A>T (p.Pro513=)
c.1299A>T (p.Pro433=)
c.918A>T (p.Pro306=)
c.-20+15673A>T (n.-20+15673A>T)
c.2850A>T (p.Pro950=)
c.2670A>T (p.Pro890=)
n.2933A>T
6g.157148881A=CA1675517059ARID1Bc.3019A= (p.Thr1007=)
c.2929A= (p.Thr977=)
c.1033A= (p.Thr345=)
c.3058A= (p.Thr1020=)
c.2770A= (p.Thr924=)
c.1177A= (p.Thr393=)
n.920A=
c.340A= (p.Thr114=)
n.153A=
c.258A=
c.62A=
c.520A= (p.Thr174=)
c.2809A= (p.Thr937=)
n.1768A=
c.1036A= (p.Thr346=)
n.866A=
c.92A=
c.1720A= (p.Thr574=)
c.1540A= (p.Thr514=)
c.1300A= (p.Thr434=)
c.919A= (p.Thr307=)
c.-20+15674A= (n.-20+15674A=)
c.2851A= (p.Thr951=)
c.2671A= (p.Thr891=)
n.2934A=
6g.157148881A>CCA366389159ARID1Bc.3019A>C (p.Thr1007Pro)
c.2929A>C (p.Thr977Pro)
c.1033A>C (p.Thr345Pro)
c.3058A>C (p.Thr1020Pro)
c.2770A>C (p.Thr924Pro)
c.1177A>C (p.Thr393Pro)
n.920A>C
c.340A>C (p.Thr114Pro)
n.153A>C
c.258A>C
c.62A>C
c.520A>C (p.Thr174Pro)
c.2809A>C (p.Thr937Pro)
n.1768A>C
c.1036A>C (p.Thr346Pro)
n.866A>C
c.92A>C
c.1720A>C (p.Thr574Pro)
c.1540A>C (p.Thr514Pro)
c.1300A>C (p.Thr434Pro)
c.919A>C (p.Thr307Pro)
c.-20+15674A>C (n.-20+15674A>C)
c.2851A>C (p.Thr951Pro)
c.2671A>C (p.Thr891Pro)
n.2934A>C
gnomAD v4
6g.157148881A>GCA366389160ARID1Bc.3019A>G (p.Thr1007Ala)
c.2929A>G (p.Thr977Ala)
c.1033A>G (p.Thr345Ala)
c.3058A>G (p.Thr1020Ala)
c.2770A>G (p.Thr924Ala)
c.1177A>G (p.Thr393Ala)
n.920A>G
c.340A>G (p.Thr114Ala)
n.153A>G
c.258A>G
c.62A>G
c.520A>G (p.Thr174Ala)
c.2809A>G (p.Thr937Ala)
n.1768A>G
c.1036A>G (p.Thr346Ala)
n.866A>G
c.92A>G
c.1720A>G (p.Thr574Ala)
c.1540A>G (p.Thr514Ala)
c.1300A>G (p.Thr434Ala)
c.919A>G (p.Thr307Ala)
c.-20+15674A>G (n.-20+15674A>G)
c.2851A>G (p.Thr951Ala)
c.2671A>G (p.Thr891Ala)
n.2934A>G
dbSNP gnomAD v2 gnomAD v4
6g.157148881A>TCA366389161ARID1Bc.3019A>T (p.Thr1007Ser)
c.2929A>T (p.Thr977Ser)
c.1033A>T (p.Thr345Ser)
c.3058A>T (p.Thr1020Ser)
c.2770A>T (p.Thr924Ser)
c.1177A>T (p.Thr393Ser)
n.920A>T
c.340A>T (p.Thr114Ser)
n.153A>T
c.258A>T
c.62A>T
c.520A>T (p.Thr174Ser)
c.2809A>T (p.Thr937Ser)
n.1768A>T
c.1036A>T (p.Thr346Ser)
n.866A>T
c.92A>T
c.1720A>T (p.Thr574Ser)
c.1540A>T (p.Thr514Ser)
c.1300A>T (p.Thr434Ser)
c.919A>T (p.Thr307Ser)
c.-20+15674A>T (n.-20+15674A>T)
c.2851A>T (p.Thr951Ser)
c.2671A>T (p.Thr891Ser)
n.2934A>T
6g.157148881_157148882insGGTAACTACTCCAGACCCCCAGCGTATAGTGGGGTGCCCA2773707692ARID1Bc.3019_3020insGGTAACTACTCCAGACCCCCAGCGTATAGTGGGGTGCC (p.Thr1007ArgfsTer2)
c.2929_2930insGGTAACTACTCCAGACCCCCAGCGTATAGTGGGGTGCC (p.Thr977ArgfsTer2)
c.1033_1034insGGTAACTACTCCAGACCCCCAGCGTATAGTGGGGTGCC (p.Thr345ArgfsTer2)
c.3058_3059insGGTAACTACTCCAGACCCCCAGCGTATAGTGGGGTGCC (p.Thr1020ArgfsTer2)
c.2770_2771insGGTAACTACTCCAGACCCCCAGCGTATAGTGGGGTGCC (p.Thr924ArgfsTer2)
c.1177_1178insGGTAACTACTCCAGACCCCCAGCGTATAGTGGGGTGCC (p.Thr393ArgfsTer2)
n.920_921insGGTAACTACTCCAGACCCCCAGCGTATAGTGGGGTGCC
c.340_341insGGTAACTACTCCAGACCCCCAGCGTATAGTGGGGTGCC (p.Thr114ArgfsTer2)
n.153_154insGGTAACTACTCCAGACCCCCAGCGTATAGTGGGGTGCC
c.258_259insGGTAACTACTCCAGACCCCCAGCGTATAGTGGGGTGCC
c.62_63insGGTAACTACTCCAGACCCCCAGCGTATAGTGGGGTGCC
c.520_521insGGTAACTACTCCAGACCCCCAGCGTATAGTGGGGTGCC (p.Thr174ArgfsTer2)
c.2809_2810insGGTAACTACTCCAGACCCCCAGCGTATAGTGGGGTGCC (p.Thr937ArgfsTer2)
n.1768_1769insGGTAACTACTCCAGACCCCCAGCGTATAGTGGGGTGCC
c.1036_1037insGGTAACTACTCCAGACCCCCAGCGTATAGTGGGGTGCC (p.Thr346ArgfsTer2)
n.866_867insGGTAACTACTCCAGACCCCCAGCGTATAGTGGGGTGCC
c.92_93insGGTAACTACTCCAGACCCCCAGCGTATAGTGGGGTGCC
c.1720_1721insGGTAACTACTCCAGACCCCCAGCGTATAGTGGGGTGCC (p.Thr574ArgfsTer2)
c.1540_1541insGGTAACTACTCCAGACCCCCAGCGTATAGTGGGGTGCC (p.Thr514ArgfsTer2)
c.1300_1301insGGTAACTACTCCAGACCCCCAGCGTATAGTGGGGTGCC (p.Thr434ArgfsTer2)
c.919_920insGGTAACTACTCCAGACCCCCAGCGTATAGTGGGGTGCC (p.Thr307ArgfsTer2)
c.-20+15674_-20+15675insGGTAACTACTCCAGACCCCCAGCGTATAGTGGGGTGCC (n.-20+15674_-20+15675insGGTAACTACTCCAGACCCCCAGCGTATAGTGGGGTGCC)
c.2851_2852insGGTAACTACTCCAGACCCCCAGCGTATAGTGGGGTGCC (p.Thr951ArgfsTer2)
c.2671_2672insGGTAACTACTCCAGACCCCCAGCGTATAGTGGGGTGCC (p.Thr891ArgfsTer2)
n.2934_2935insGGTAACTACTCCAGACCCCCAGCGTATAGTGGGGTGCC
6g.157148882C>ACA366389162ARID1Bc.3020C>A (p.Thr1007Asn)
c.2930C>A (p.Thr977Asn)
c.1034C>A (p.Thr345Asn)
c.3059C>A (p.Thr1020Asn)
c.2771C>A (p.Thr924Asn)
c.1178C>A (p.Thr393Asn)
n.921C>A
c.341C>A (p.Thr114Asn)
n.154C>A
c.259C>A
c.63C>A
c.521C>A (p.Thr174Asn)
c.2810C>A (p.Thr937Asn)
n.1769C>A
c.1037C>A (p.Thr346Asn)
n.867C>A
c.93C>A
c.1721C>A (p.Thr574Asn)
c.1541C>A (p.Thr514Asn)
c.1301C>A (p.Thr434Asn)
c.920C>A (p.Thr307Asn)
c.-20+15675C>A (n.-20+15675C>A)
c.2852C>A (p.Thr951Asn)
c.2672C>A (p.Thr891Asn)
n.2935C>A
6g.157148882C>GCA366389163ARID1Bc.3020C>G (p.Thr1007Ser)
c.2930C>G (p.Thr977Ser)
c.1034C>G (p.Thr345Ser)
c.3059C>G (p.Thr1020Ser)
c.2771C>G (p.Thr924Ser)
c.1178C>G (p.Thr393Ser)
n.921C>G
c.341C>G (p.Thr114Ser)
n.154C>G
c.259C>G
c.63C>G
c.521C>G (p.Thr174Ser)
c.2810C>G (p.Thr937Ser)
n.1769C>G
c.1037C>G (p.Thr346Ser)
n.867C>G
c.93C>G
c.1721C>G (p.Thr574Ser)
c.1541C>G (p.Thr514Ser)
c.1301C>G (p.Thr434Ser)
c.920C>G (p.Thr307Ser)
c.-20+15675C>G (n.-20+15675C>G)
c.2852C>G (p.Thr951Ser)
c.2672C>G (p.Thr891Ser)
n.2935C>G
6g.157148882C>TCA366389164ARID1Bc.3020C>T (p.Thr1007Ile)
c.2930C>T (p.Thr977Ile)
c.1034C>T (p.Thr345Ile)
c.3059C>T (p.Thr1020Ile)
c.2771C>T (p.Thr924Ile)
c.1178C>T (p.Thr393Ile)
n.921C>T
c.341C>T (p.Thr114Ile)
n.154C>T
c.259C>T
c.63C>T
c.521C>T (p.Thr174Ile)
c.2810C>T (p.Thr937Ile)
n.1769C>T
c.1037C>T (p.Thr346Ile)
n.867C>T
c.93C>T
c.1721C>T (p.Thr574Ile)
c.1541C>T (p.Thr514Ile)
c.1301C>T (p.Thr434Ile)
c.920C>T (p.Thr307Ile)
c.-20+15675C>T (n.-20+15675C>T)
c.2852C>T (p.Thr951Ile)
c.2672C>T (p.Thr891Ile)
n.2935C>T
6g.157148883T>ACA452990076ARID1Bc.3021T>A (p.Thr1007=)
c.2931T>A (p.Thr977=)
c.1035T>A (p.Thr345=)
c.3060T>A (p.Thr1020=)
c.2772T>A (p.Thr924=)
c.1179T>A (p.Thr393=)
n.922T>A
c.342T>A (p.Thr114=)
n.155T>A
c.260T>A
c.64T>A
c.522T>A (p.Thr174=)
c.2811T>A (p.Thr937=)
n.1770T>A
c.1038T>A (p.Thr346=)
n.868T>A
c.94T>A
c.1722T>A (p.Thr574=)
c.1542T>A (p.Thr514=)
c.1302T>A (p.Thr434=)
c.921T>A (p.Thr307=)
c.-20+15676T>A (n.-20+15676T>A)
c.2853T>A (p.Thr951=)
c.2673T>A (p.Thr891=)
n.2936T>A
6g.157148883T>CCA4067176ARID1Bc.3021T>C (p.Thr1007=)
c.2931T>C (p.Thr977=)
c.1035T>C (p.Thr345=)
c.3060T>C (p.Thr1020=)
c.2772T>C (p.Thr924=)
c.1179T>C (p.Thr393=)
n.922T>C
c.342T>C (p.Thr114=)
n.155T>C
c.260T>C
c.64T>C
c.522T>C (p.Thr174=)
c.2811T>C (p.Thr937=)
n.1770T>C
c.1038T>C (p.Thr346=)
n.868T>C
c.94T>C
c.1722T>C (p.Thr574=)
c.1542T>C (p.Thr514=)
c.1302T>C (p.Thr434=)
c.921T>C (p.Thr307=)
c.-20+15676T>C (n.-20+15676T>C)
c.2853T>C (p.Thr951=)
c.2673T>C (p.Thr891=)
n.2936T>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.157148883T>GCA452990077ARID1Bc.3021T>G (p.Thr1007=)
c.2931T>G (p.Thr977=)
c.1035T>G (p.Thr345=)
c.3060T>G (p.Thr1020=)
c.2772T>G (p.Thr924=)
c.1179T>G (p.Thr393=)
n.922T>G
c.342T>G (p.Thr114=)
n.155T>G
c.260T>G
c.64T>G
c.522T>G (p.Thr174=)
c.2811T>G (p.Thr937=)
n.1770T>G
c.1038T>G (p.Thr346=)
n.868T>G
c.94T>G
c.1722T>G (p.Thr574=)
c.1542T>G (p.Thr514=)
c.1302T>G (p.Thr434=)
c.921T>G (p.Thr307=)
c.-20+15676T>G (n.-20+15676T>G)
c.2853T>G (p.Thr951=)
c.2673T>G (p.Thr891=)
n.2936T>G
6g.157148883T=CA1675517060ARID1Bc.3021T= (p.Thr1007=)
c.2931T= (p.Thr977=)
c.1035T= (p.Thr345=)
c.3060T= (p.Thr1020=)
c.2772T= (p.Thr924=)
c.1179T= (p.Thr393=)
n.922T=
c.342T= (p.Thr114=)
n.155T=
c.260T=
c.64T=
c.522T= (p.Thr174=)
c.2811T= (p.Thr937=)
n.1770T=
c.1038T= (p.Thr346=)
n.868T=
c.94T=
c.1722T= (p.Thr574=)
c.1542T= (p.Thr514=)
c.1302T= (p.Thr434=)
c.921T= (p.Thr307=)
c.-20+15676T= (n.-20+15676T=)
c.2853T= (p.Thr951=)
c.2673T= (p.Thr891=)
n.2936T=
6g.157148884G>ACA366389166ARID1Bc.3022G>A (p.Val1008Met)
c.2932G>A (p.Val978Met)
c.1036G>A (p.Val346Met)
c.3061G>A (p.Val1021Met)
c.2773G>A (p.Val925Met)
c.1180G>A (p.Val394Met)
n.923G>A
c.343G>A (p.Val115Met)
n.156G>A
c.261G>A
c.65G>A
c.523G>A (p.Val175Met)
c.2812G>A (p.Val938Met)
n.1771G>A
c.1039G>A (p.Val347Met)
n.869G>A
c.95G>A
c.1723G>A (p.Val575Met)
c.1543G>A (p.Val515Met)
c.1303G>A (p.Val435Met)
c.922G>A (p.Val308Met)
c.-20+15677G>A (n.-20+15677G>A)
c.2854G>A (p.Val952Met)
c.2674G>A (p.Val892Met)
n.2937G>A
dbSNP
6g.157148884G>CCA366389167ARID1Bc.3022G>C (p.Val1008Leu)
c.2932G>C (p.Val978Leu)
c.1036G>C (p.Val346Leu)
c.3061G>C (p.Val1021Leu)
c.2773G>C (p.Val925Leu)
c.1180G>C (p.Val394Leu)
n.923G>C
c.343G>C (p.Val115Leu)
n.156G>C
c.261G>C
c.65G>C
c.523G>C (p.Val175Leu)
c.2812G>C (p.Val938Leu)
n.1771G>C
c.1039G>C (p.Val347Leu)
n.869G>C
c.95G>C
c.1723G>C (p.Val575Leu)
c.1543G>C (p.Val515Leu)
c.1303G>C (p.Val435Leu)
c.922G>C (p.Val308Leu)
c.-20+15677G>C (n.-20+15677G>C)
c.2854G>C (p.Val952Leu)
c.2674G>C (p.Val892Leu)
n.2937G>C
6g.157148884G>TCA366389165ARID1Bc.3022G>T (p.Val1008Leu)
c.2932G>T (p.Val978Leu)
c.1036G>T (p.Val346Leu)
c.3061G>T (p.Val1021Leu)
c.2773G>T (p.Val925Leu)
c.1180G>T (p.Val394Leu)
n.923G>T
c.343G>T (p.Val115Leu)
n.156G>T
c.261G>T
c.65G>T
c.523G>T (p.Val175Leu)
c.2812G>T (p.Val938Leu)
n.1771G>T
c.1039G>T (p.Val347Leu)
n.869G>T
c.95G>T
c.1723G>T (p.Val575Leu)
c.1543G>T (p.Val515Leu)
c.1303G>T (p.Val435Leu)
c.922G>T (p.Val308Leu)
c.-20+15677G>T (n.-20+15677G>T)
c.2854G>T (p.Val952Leu)
c.2674G>T (p.Val892Leu)
n.2937G>T
6g.157148885T>ACA366389169ARID1Bc.3023T>A (p.Val1008Glu)
c.2933T>A (p.Val978Glu)
c.1037T>A (p.Val346Glu)
c.3062T>A (p.Val1021Glu)
c.2774T>A (p.Val925Glu)
c.1181T>A (p.Val394Glu)
n.924T>A
c.344T>A (p.Val115Glu)
n.157T>A
c.262T>A
c.66T>A
c.524T>A (p.Val175Glu)
c.2813T>A (p.Val938Glu)
n.1772T>A
c.1040T>A (p.Val347Glu)
n.870T>A
c.96T>A
c.1724T>A (p.Val575Glu)
c.1544T>A (p.Val515Glu)
c.1304T>A (p.Val435Glu)
c.923T>A (p.Val308Glu)
c.-20+15678T>A (n.-20+15678T>A)
c.2855T>A (p.Val952Glu)
c.2675T>A (p.Val892Glu)
n.2938T>A
6g.157148885T>CCA366389168ARID1Bc.3023T>C (p.Val1008Ala)
c.2933T>C (p.Val978Ala)
c.1037T>C (p.Val346Ala)
c.3062T>C (p.Val1021Ala)
c.2774T>C (p.Val925Ala)
c.1181T>C (p.Val394Ala)
n.924T>C
c.344T>C (p.Val115Ala)
n.157T>C
c.262T>C
c.66T>C
c.524T>C (p.Val175Ala)
c.2813T>C (p.Val938Ala)
n.1772T>C
c.1040T>C (p.Val347Ala)
n.870T>C
c.96T>C
c.1724T>C (p.Val575Ala)
c.1544T>C (p.Val515Ala)
c.1304T>C (p.Val435Ala)
c.923T>C (p.Val308Ala)
c.-20+15678T>C (n.-20+15678T>C)
c.2855T>C (p.Val952Ala)
c.2675T>C (p.Val892Ala)
n.2938T>C
6g.157148885T>GCA366389170ARID1Bc.3023T>G (p.Val1008Gly)
c.2933T>G (p.Val978Gly)
c.1037T>G (p.Val346Gly)
c.3062T>G (p.Val1021Gly)
c.2774T>G (p.Val925Gly)
c.1181T>G (p.Val394Gly)
n.924T>G
c.344T>G (p.Val115Gly)
n.157T>G
c.262T>G
c.66T>G
c.524T>G (p.Val175Gly)
c.2813T>G (p.Val938Gly)
n.1772T>G
c.1040T>G (p.Val347Gly)
n.870T>G
c.96T>G
c.1724T>G (p.Val575Gly)
c.1544T>G (p.Val515Gly)
c.1304T>G (p.Val435Gly)
c.923T>G (p.Val308Gly)
c.-20+15678T>G (n.-20+15678T>G)
c.2855T>G (p.Val952Gly)
c.2675T>G (p.Val892Gly)
n.2938T>G
6g.157148886G>ACA452990079ARID1Bc.3024G>A (p.Val1008=)
c.2934G>A (p.Val978=)
c.1038G>A (p.Val346=)
c.3063G>A (p.Val1021=)
c.2775G>A (p.Val925=)
c.1182G>A (p.Val394=)
n.925G>A
c.345G>A (p.Val115=)
n.158G>A
c.263G>A
c.67G>A
c.525G>A (p.Val175=)
c.2814G>A (p.Val938=)
n.1773G>A
c.1041G>A (p.Val347=)
n.871G>A
c.97G>A
c.1725G>A (p.Val575=)
c.1545G>A (p.Val515=)
c.1305G>A (p.Val435=)
c.924G>A (p.Val308=)
c.-20+15679G>A (n.-20+15679G>A)
c.2856G>A (p.Val952=)
c.2676G>A (p.Val892=)
n.2939G>A
dbSNP
6g.157148886G>CCA452990080ARID1Bc.3024G>C (p.Val1008=)
c.2934G>C (p.Val978=)
c.1038G>C (p.Val346=)
c.3063G>C (p.Val1021=)
c.2775G>C (p.Val925=)
c.1182G>C (p.Val394=)
n.925G>C
c.345G>C (p.Val115=)
n.158G>C
c.263G>C
c.67G>C
c.525G>C (p.Val175=)
c.2814G>C (p.Val938=)
n.1773G>C
c.1041G>C (p.Val347=)
n.871G>C
c.97G>C
c.1725G>C (p.Val575=)
c.1545G>C (p.Val515=)
c.1305G>C (p.Val435=)
c.924G>C (p.Val308=)
c.-20+15679G>C (n.-20+15679G>C)
c.2856G>C (p.Val952=)
c.2676G>C (p.Val892=)
n.2939G>C
6g.157148886G=CA1675517061ARID1Bc.3024G= (p.Val1008=)
c.2934G= (p.Val978=)
c.1038G= (p.Val346=)
c.3063G= (p.Val1021=)
c.2775G= (p.Val925=)
c.1182G= (p.Val394=)
n.925G=
c.345G= (p.Val115=)
n.158G=
c.263G=
c.67G=
c.525G= (p.Val175=)
c.2814G= (p.Val938=)
n.1773G=
c.1041G= (p.Val347=)
n.871G=
c.97G=
c.1725G= (p.Val575=)
c.1545G= (p.Val515=)
c.1305G= (p.Val435=)
c.924G= (p.Val308=)
c.-20+15679G= (n.-20+15679G=)
c.2856G= (p.Val952=)
c.2676G= (p.Val892=)
n.2939G=
6g.157148886G>TCA452990081ARID1Bc.3024G>T (p.Val1008=)
c.2934G>T (p.Val978=)
c.1038G>T (p.Val346=)
c.3063G>T (p.Val1021=)
c.2775G>T (p.Val925=)
c.1182G>T (p.Val394=)
n.925G>T
c.345G>T (p.Val115=)
n.158G>T
c.263G>T
c.67G>T
c.525G>T (p.Val175=)
c.2814G>T (p.Val938=)
n.1773G>T
c.1041G>T (p.Val347=)
n.871G>T
c.97G>T
c.1725G>T (p.Val575=)
c.1545G>T (p.Val515=)
c.1305G>T (p.Val435=)
c.924G>T (p.Val308=)
c.-20+15679G>T (n.-20+15679G>T)
c.2856G>T (p.Val952=)
c.2676G>T (p.Val892=)
n.2939G>T
6g.157148887A>CCA366389171ARID1Bc.3025A>C (p.Asn1009His)
c.2935A>C (p.Asn979His)
c.1039A>C (p.Asn347His)
c.3064A>C (p.Asn1022His)
c.2776A>C (p.Asn926His)
c.1183A>C (p.Asn395His)
n.926A>C
c.346A>C (p.Asn116His)
n.159A>C
c.264A>C
c.68A>C
c.526A>C (p.Asn176His)
c.2815A>C (p.Asn939His)
n.1774A>C
c.1042A>C (p.Asn348His)
n.872A>C
c.98A>C
c.1726A>C (p.Asn576His)
c.1546A>C (p.Asn516His)
c.1306A>C (p.Asn436His)
c.925A>C (p.Asn309His)
c.-20+15680A>C (n.-20+15680A>C)
c.2857A>C (p.Asn953His)
c.2677A>C (p.Asn893His)
n.2940A>C
6g.157148887A>GCA366389172ARID1Bc.3025A>G (p.Asn1009Asp)
c.2935A>G (p.Asn979Asp)
c.1039A>G (p.Asn347Asp)
c.3064A>G (p.Asn1022Asp)
c.2776A>G (p.Asn926Asp)
c.1183A>G (p.Asn395Asp)
n.926A>G
c.346A>G (p.Asn116Asp)
n.159A>G
c.264A>G
c.68A>G
c.526A>G (p.Asn176Asp)
c.2815A>G (p.Asn939Asp)
n.1774A>G
c.1042A>G (p.Asn348Asp)
n.872A>G
c.98A>G
c.1726A>G (p.Asn576Asp)
c.1546A>G (p.Asn516Asp)
c.1306A>G (p.Asn436Asp)
c.925A>G (p.Asn309Asp)
c.-20+15680A>G (n.-20+15680A>G)
c.2857A>G (p.Asn953Asp)
c.2677A>G (p.Asn893Asp)
n.2940A>G
6g.157148887A>TCA366389173ARID1Bc.3025A>T (p.Asn1009Tyr)
c.2935A>T (p.Asn979Tyr)
c.1039A>T (p.Asn347Tyr)
c.3064A>T (p.Asn1022Tyr)
c.2776A>T (p.Asn926Tyr)
c.1183A>T (p.Asn395Tyr)
n.926A>T
c.346A>T (p.Asn116Tyr)
n.159A>T
c.264A>T
c.68A>T
c.526A>T (p.Asn176Tyr)
c.2815A>T (p.Asn939Tyr)
n.1774A>T
c.1042A>T (p.Asn348Tyr)
n.872A>T
c.98A>T
c.1726A>T (p.Asn576Tyr)
c.1546A>T (p.Asn516Tyr)
c.1306A>T (p.Asn436Tyr)
c.925A>T (p.Asn309Tyr)
c.-20+15680A>T (n.-20+15680A>T)
c.2857A>T (p.Asn953Tyr)
c.2677A>T (p.Asn893Tyr)
n.2940A>T
6g.157148888A>CCA366389174ARID1Bc.3026A>C (p.Asn1009Thr)
c.2936A>C (p.Asn979Thr)
c.1040A>C (p.Asn347Thr)
c.3065A>C (p.Asn1022Thr)
c.2777A>C (p.Asn926Thr)
c.1184A>C (p.Asn395Thr)
n.927A>C
c.347A>C (p.Asn116Thr)
n.160A>C
c.265A>C
c.69A>C
c.527A>C (p.Asn176Thr)
c.2816A>C (p.Asn939Thr)
n.1775A>C
c.1043A>C (p.Asn348Thr)
n.873A>C
c.99A>C
c.1727A>C (p.Asn576Thr)
c.1547A>C (p.Asn516Thr)
c.1307A>C (p.Asn436Thr)
c.926A>C (p.Asn309Thr)
c.-20+15681A>C (n.-20+15681A>C)
c.2858A>C (p.Asn953Thr)
c.2678A>C (p.Asn893Thr)
n.2941A>C
6g.157148888A>GCA366389175ARID1Bc.3026A>G (p.Asn1009Ser)
c.2936A>G (p.Asn979Ser)
c.1040A>G (p.Asn347Ser)
c.3065A>G (p.Asn1022Ser)
c.2777A>G (p.Asn926Ser)
c.1184A>G (p.Asn395Ser)
n.927A>G
c.347A>G (p.Asn116Ser)
n.160A>G
c.265A>G
c.69A>G
c.527A>G (p.Asn176Ser)
c.2816A>G (p.Asn939Ser)
n.1775A>G
c.1043A>G (p.Asn348Ser)
n.873A>G
c.99A>G
c.1727A>G (p.Asn576Ser)
c.1547A>G (p.Asn516Ser)
c.1307A>G (p.Asn436Ser)
c.926A>G (p.Asn309Ser)
c.-20+15681A>G (n.-20+15681A>G)
c.2858A>G (p.Asn953Ser)
c.2678A>G (p.Asn893Ser)
n.2941A>G
6g.157148888A>TCA366389176ARID1Bc.3026A>T (p.Asn1009Ile)
c.2936A>T (p.Asn979Ile)
c.1040A>T (p.Asn347Ile)
c.3065A>T (p.Asn1022Ile)
c.2777A>T (p.Asn926Ile)
c.1184A>T (p.Asn395Ile)
n.927A>T
c.347A>T (p.Asn116Ile)
n.160A>T
c.265A>T
c.69A>T
c.527A>T (p.Asn176Ile)
c.2816A>T (p.Asn939Ile)
n.1775A>T
c.1043A>T (p.Asn348Ile)
n.873A>T
c.99A>T
c.1727A>T (p.Asn576Ile)
c.1547A>T (p.Asn516Ile)
c.1307A>T (p.Asn436Ile)
c.926A>T (p.Asn309Ile)
c.-20+15681A>T (n.-20+15681A>T)
c.2858A>T (p.Asn953Ile)
c.2678A>T (p.Asn893Ile)
n.2941A>T
6g.157148889C>ACA366389177ARID1Bc.3027C>A (p.Asn1009Lys)
c.2937C>A (p.Asn979Lys)
c.1041C>A (p.Asn347Lys)
c.3066C>A (p.Asn1022Lys)
c.2778C>A (p.Asn926Lys)
c.1185C>A (p.Asn395Lys)
n.928C>A
c.348C>A (p.Asn116Lys)
n.161C>A
c.266C>A
c.70C>A
c.528C>A (p.Asn176Lys)
c.2817C>A (p.Asn939Lys)
n.1776C>A
c.1044C>A (p.Asn348Lys)
n.874C>A
c.100C>A
c.1728C>A (p.Asn576Lys)
c.1548C>A (p.Asn516Lys)
c.1308C>A (p.Asn436Lys)
c.927C>A (p.Asn309Lys)
c.-20+15682C>A (n.-20+15682C>A)
c.2859C>A (p.Asn953Lys)
c.2679C>A (p.Asn893Lys)
n.2942C>A
6g.157148889C>GCA366389178ARID1Bc.3027C>G (p.Asn1009Lys)
c.2937C>G (p.Asn979Lys)
c.1041C>G (p.Asn347Lys)
c.3066C>G (p.Asn1022Lys)
c.2778C>G (p.Asn926Lys)
c.1185C>G (p.Asn395Lys)
n.928C>G
c.348C>G (p.Asn116Lys)
n.161C>G
c.266C>G
c.70C>G
c.528C>G (p.Asn176Lys)
c.2817C>G (p.Asn939Lys)
n.1776C>G
c.1044C>G (p.Asn348Lys)
n.874C>G
c.100C>G
c.1728C>G (p.Asn576Lys)
c.1548C>G (p.Asn516Lys)
c.1308C>G (p.Asn436Lys)
c.927C>G (p.Asn309Lys)
c.-20+15682C>G (n.-20+15682C>G)
c.2859C>G (p.Asn953Lys)
c.2679C>G (p.Asn893Lys)
n.2942C>G
6g.157148889C>TCA452990082ARID1Bc.3027C>T (p.Asn1009=)
c.2937C>T (p.Asn979=)
c.1041C>T (p.Asn347=)
c.3066C>T (p.Asn1022=)
c.2778C>T (p.Asn926=)
c.1185C>T (p.Asn395=)
n.928C>T
c.348C>T (p.Asn116=)
n.161C>T
c.266C>T
c.70C>T
c.528C>T (p.Asn176=)
c.2817C>T (p.Asn939=)
n.1776C>T
c.1044C>T (p.Asn348=)
n.874C>T
c.100C>T
c.1728C>T (p.Asn576=)
c.1548C>T (p.Asn516=)
c.1308C>T (p.Asn436=)
c.927C>T (p.Asn309=)
c.-20+15682C>T (n.-20+15682C>T)
c.2859C>T (p.Asn953=)
c.2679C>T (p.Asn893=)
n.2942C>T
dbSNP
6g.157148890C>ACA366389179ARID1Bc.3028C>A (p.Arg1010Ser)
c.2938C>A (p.Arg980Ser)
c.1042C>A (p.Arg348Ser)
c.3067C>A (p.Arg1023Ser)
c.2779C>A (p.Arg927Ser)
c.1186C>A (p.Arg396Ser)
n.929C>A
c.349C>A (p.Arg117Ser)
n.162C>A
c.267C>A
c.71C>A
c.529C>A (p.Arg177Ser)
c.2818C>A (p.Arg940Ser)
n.1777C>A
c.1045C>A (p.Arg349Ser)
n.875C>A
c.101C>A
c.1729C>A (p.Arg577Ser)
c.1549C>A (p.Arg517Ser)
c.1309C>A (p.Arg437Ser)
c.928C>A (p.Arg310Ser)
c.-20+15683C>A (n.-20+15683C>A)
c.2860C>A (p.Arg954Ser)
c.2680C>A (p.Arg894Ser)
n.2943C>A
6g.157148890C=CA1675517062ARID1Bc.3028C= (p.Arg1010=)
c.2938C= (p.Arg980=)
c.1042C= (p.Arg348=)
c.3067C= (p.Arg1023=)
c.2779C= (p.Arg927=)
c.1186C= (p.Arg396=)
n.929C=
c.349C= (p.Arg117=)
n.162C=
c.267C=
c.71C=
c.529C= (p.Arg177=)
c.2818C= (p.Arg940=)
n.1777C=
c.1045C= (p.Arg349=)
n.875C=
c.101C=
c.1729C= (p.Arg577=)
c.1549C= (p.Arg517=)
c.1309C= (p.Arg437=)
c.928C= (p.Arg310=)
c.-20+15683C= (n.-20+15683C=)
c.2860C= (p.Arg954=)
c.2680C= (p.Arg894=)
n.2943C=
6g.157148890C>GCA366389180ARID1Bc.3028C>G (p.Arg1010Gly)
c.2938C>G (p.Arg980Gly)
c.1042C>G (p.Arg348Gly)
c.3067C>G (p.Arg1023Gly)
c.2779C>G (p.Arg927Gly)
c.1186C>G (p.Arg396Gly)
n.929C>G
c.349C>G (p.Arg117Gly)
n.162C>G
c.267C>G
c.71C>G
c.529C>G (p.Arg177Gly)
c.2818C>G (p.Arg940Gly)
n.1777C>G
c.1045C>G (p.Arg349Gly)
n.875C>G
c.101C>G
c.1729C>G (p.Arg577Gly)
c.1549C>G (p.Arg517Gly)
c.1309C>G (p.Arg437Gly)
c.928C>G (p.Arg310Gly)
c.-20+15683C>G (n.-20+15683C>G)
c.2860C>G (p.Arg954Gly)
c.2680C>G (p.Arg894Gly)
n.2943C>G
6g.157148890C>TCA366389181ARID1Bc.3028C>T (p.Arg1010Cys)
c.2938C>T (p.Arg980Cys)
c.1042C>T (p.Arg348Cys)
c.3067C>T (p.Arg1023Cys)
c.2779C>T (p.Arg927Cys)
c.1186C>T (p.Arg396Cys)
n.929C>T
c.349C>T (p.Arg117Cys)
n.162C>T
c.267C>T
c.71C>T
c.529C>T (p.Arg177Cys)
c.2818C>T (p.Arg940Cys)
n.1777C>T
c.1045C>T (p.Arg349Cys)
n.875C>T
c.101C>T
c.1729C>T (p.Arg577Cys)
c.1549C>T (p.Arg517Cys)
c.1309C>T (p.Arg437Cys)
c.928C>T (p.Arg310Cys)
c.-20+15683C>T (n.-20+15683C>T)
c.2860C>T (p.Arg954Cys)
c.2680C>T (p.Arg894Cys)
n.2943C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.157148891G>ACA4067177ARID1Bc.3029G>A (p.Arg1010His)
c.2939G>A (p.Arg980His)
c.1043G>A (p.Arg348His)
c.3068G>A (p.Arg1023His)
c.2780G>A (p.Arg927His)
c.1187G>A (p.Arg396His)
n.930G>A
c.350G>A (p.Arg117His)
n.163G>A
c.268G>A
c.72G>A
c.530G>A (p.Arg177His)
c.2819G>A (p.Arg940His)
n.1778G>A
c.1046G>A (p.Arg349His)
n.876G>A
c.102G>A
c.1730G>A (p.Arg577His)
c.1550G>A (p.Arg517His)
c.1310G>A (p.Arg437His)
c.929G>A (p.Arg310His)
c.-20+15684G>A (n.-20+15684G>A)
c.2861G>A (p.Arg954His)
c.2681G>A (p.Arg894His)
n.2944G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.157148891G>CCA4067178ARID1Bc.3029G>C (p.Arg1010Pro)
c.2939G>C (p.Arg980Pro)
c.1043G>C (p.Arg348Pro)
c.3068G>C (p.Arg1023Pro)
c.2780G>C (p.Arg927Pro)
c.1187G>C (p.Arg396Pro)
n.930G>C
c.350G>C (p.Arg117Pro)
n.163G>C
c.268G>C
c.72G>C
c.530G>C (p.Arg177Pro)
c.2819G>C (p.Arg940Pro)
n.1778G>C
c.1046G>C (p.Arg349Pro)
n.876G>C
c.102G>C
c.1730G>C (p.Arg577Pro)
c.1550G>C (p.Arg517Pro)
c.1310G>C (p.Arg437Pro)
c.929G>C (p.Arg310Pro)
c.-20+15684G>C (n.-20+15684G>C)
c.2861G>C (p.Arg954Pro)
c.2681G>C (p.Arg894Pro)
n.2944G>C
dbSNP ExAC gnomAD v2
6g.157148891G=CA1675517063ARID1Bc.3029G= (p.Arg1010=)
c.2939G= (p.Arg980=)
c.1043G= (p.Arg348=)
c.3068G= (p.Arg1023=)
c.2780G= (p.Arg927=)
c.1187G= (p.Arg396=)
n.930G=
c.350G= (p.Arg117=)
n.163G=
c.268G=
c.72G=
c.530G= (p.Arg177=)
c.2819G= (p.Arg940=)
n.1778G=
c.1046G= (p.Arg349=)
n.876G=
c.102G=
c.1730G= (p.Arg577=)
c.1550G= (p.Arg517=)
c.1310G= (p.Arg437=)
c.929G= (p.Arg310=)
c.-20+15684G= (n.-20+15684G=)
c.2861G= (p.Arg954=)
c.2681G= (p.Arg894=)
n.2944G=
6g.157148891G>TCA366389182ARID1Bc.3029G>T (p.Arg1010Leu)
c.2939G>T (p.Arg980Leu)
c.1043G>T (p.Arg348Leu)
c.3068G>T (p.Arg1023Leu)
c.2780G>T (p.Arg927Leu)
c.1187G>T (p.Arg396Leu)
n.930G>T
c.350G>T (p.Arg117Leu)
n.163G>T
c.268G>T
c.72G>T
c.530G>T (p.Arg177Leu)
c.2819G>T (p.Arg940Leu)
n.1778G>T
c.1046G>T (p.Arg349Leu)
n.876G>T
c.102G>T
c.1730G>T (p.Arg577Leu)
c.1550G>T (p.Arg517Leu)
c.1310G>T (p.Arg437Leu)
c.929G>T (p.Arg310Leu)
c.-20+15684G>T (n.-20+15684G>T)
c.2861G>T (p.Arg954Leu)
c.2681G>T (p.Arg894Leu)
n.2944G>T
gnomAD v4
6g.157148892T>ACA452990086ARID1Bc.3030T>A (p.Arg1010=)
c.2940T>A (p.Arg980=)
c.1044T>A (p.Arg348=)
c.3069T>A (p.Arg1023=)
c.2781T>A (p.Arg927=)
c.1188T>A (p.Arg396=)
n.931T>A
c.351T>A (p.Arg117=)
n.164T>A
c.269T>A
c.73T>A
c.531T>A (p.Arg177=)
c.2820T>A (p.Arg940=)
n.1779T>A
c.1047T>A (p.Arg349=)
n.877T>A
c.103T>A
c.1731T>A (p.Arg577=)
c.1551T>A (p.Arg517=)
c.1311T>A (p.Arg437=)
c.930T>A (p.Arg310=)
c.-20+15685T>A (n.-20+15685T>A)
c.2862T>A (p.Arg954=)
c.2682T>A (p.Arg894=)
n.2945T>A
6g.157148892T>CCA452990087ARID1Bc.3030T>C (p.Arg1010=)
c.2940T>C (p.Arg980=)
c.1044T>C (p.Arg348=)
c.3069T>C (p.Arg1023=)
c.2781T>C (p.Arg927=)
c.1188T>C (p.Arg396=)
n.931T>C
c.351T>C (p.Arg117=)
n.164T>C
c.269T>C
c.73T>C
c.531T>C (p.Arg177=)
c.2820T>C (p.Arg940=)
n.1779T>C
c.1047T>C (p.Arg349=)
n.877T>C
c.103T>C
c.1731T>C (p.Arg577=)
c.1551T>C (p.Arg517=)
c.1311T>C (p.Arg437=)
c.930T>C (p.Arg310=)
c.-20+15685T>C (n.-20+15685T>C)
c.2862T>C (p.Arg954=)
c.2682T>C (p.Arg894=)
n.2945T>C
6g.157148892T>GCA452990088ARID1Bc.3030T>G (p.Arg1010=)
c.2940T>G (p.Arg980=)
c.1044T>G (p.Arg348=)
c.3069T>G (p.Arg1023=)
c.2781T>G (p.Arg927=)
c.1188T>G (p.Arg396=)
n.931T>G
c.351T>G (p.Arg117=)
n.164T>G
c.269T>G
c.73T>G
c.531T>G (p.Arg177=)
c.2820T>G (p.Arg940=)
n.1779T>G
c.1047T>G (p.Arg349=)
n.877T>G
c.103T>G
c.1731T>G (p.Arg577=)
c.1551T>G (p.Arg517=)
c.1311T>G (p.Arg437=)
c.930T>G (p.Arg310=)
c.-20+15685T>G (n.-20+15685T>G)
c.2862T>G (p.Arg954=)
c.2682T>G (p.Arg894=)
n.2945T>G
6g.157148892dupCA2695207305ARID1Bc.3030dup (p.Lys1011Ter)
c.2940dup (p.Lys981Ter)
c.1044dup (p.Lys349Ter)
c.3069dup (p.Lys1024Ter)
c.2781dup (p.Lys928Ter)
c.1188dup (p.Lys397Ter)
n.931dup
c.351dup (p.Lys118Ter)
n.164dup
c.269dup
c.73dup
c.531dup (p.Lys178Ter)
c.2820dup (p.Lys941Ter)
n.1779dup
c.1047dup (p.Lys350Ter)
n.877dup
c.103dup
c.1731dup (p.Lys578Ter)
c.1551dup (p.Lys518Ter)
c.1311dup (p.Lys438Ter)
c.930dup (p.Lys311Ter)
c.-20+15685dup (n.-20+15685dup)
c.2862dup (p.Lys955Ter)
c.2682dup (p.Lys895Ter)
n.2945dup
6g.157148893A=CA1675517064ARID1Bc.3031A= (p.Lys1011=)
c.2941A= (p.Lys981=)
c.1045A= (p.Lys349=)
c.3070A= (p.Lys1024=)
c.2782A= (p.Lys928=)
c.1189A= (p.Lys397=)
n.932A=
c.352A= (p.Lys118=)
n.165A=
c.270A=
c.74A=
c.532A= (p.Lys178=)
c.2821A= (p.Lys941=)
n.1780A=
c.1048A= (p.Lys350=)
n.878A=
c.104A=
c.1732A= (p.Lys578=)
c.1552A= (p.Lys518=)
c.1312A= (p.Lys438=)
c.931A= (p.Lys311=)
c.-20+15686A= (n.-20+15686A=)
c.2863A= (p.Lys955=)
c.2683A= (p.Lys895=)
n.2946A=
6g.157148893A>CCA366389183ARID1Bc.3031A>C (p.Lys1011Gln)
c.2941A>C (p.Lys981Gln)
c.1045A>C (p.Lys349Gln)
c.3070A>C (p.Lys1024Gln)
c.2782A>C (p.Lys928Gln)
c.1189A>C (p.Lys397Gln)
n.932A>C
c.352A>C (p.Lys118Gln)
n.165A>C
c.270A>C
c.74A>C
c.532A>C (p.Lys178Gln)
c.2821A>C (p.Lys941Gln)
n.1780A>C
c.1048A>C (p.Lys350Gln)
n.878A>C
c.104A>C
c.1732A>C (p.Lys578Gln)
c.1552A>C (p.Lys518Gln)
c.1312A>C (p.Lys438Gln)
c.931A>C (p.Lys311Gln)
c.-20+15686A>C (n.-20+15686A>C)
c.2863A>C (p.Lys955Gln)
c.2683A>C (p.Lys895Gln)
n.2946A>C
6g.157148893A>GCA366389184ARID1Bc.3031A>G (p.Lys1011Glu)
c.2941A>G (p.Lys981Glu)
c.1045A>G (p.Lys349Glu)
c.3070A>G (p.Lys1024Glu)
c.2782A>G (p.Lys928Glu)
c.1189A>G (p.Lys397Glu)
n.932A>G
c.352A>G (p.Lys118Glu)
n.165A>G
c.270A>G
c.74A>G
c.532A>G (p.Lys178Glu)
c.2821A>G (p.Lys941Glu)
n.1780A>G
c.1048A>G (p.Lys350Glu)
n.878A>G
c.104A>G
c.1732A>G (p.Lys578Glu)
c.1552A>G (p.Lys518Glu)
c.1312A>G (p.Lys438Glu)
c.931A>G (p.Lys311Glu)
c.-20+15686A>G (n.-20+15686A>G)
c.2863A>G (p.Lys955Glu)
c.2683A>G (p.Lys895Glu)
n.2946A>G
6g.157148893A>TCA366389185ARID1Bc.3031A>T (p.Lys1011Ter)
c.2941A>T (p.Lys981Ter)
c.1045A>T (p.Lys349Ter)
c.3070A>T (p.Lys1024Ter)
c.2782A>T (p.Lys928Ter)
c.1189A>T (p.Lys397Ter)
n.932A>T
c.352A>T (p.Lys118Ter)
n.165A>T
c.270A>T
c.74A>T
c.532A>T (p.Lys178Ter)
c.2821A>T (p.Lys941Ter)
n.1780A>T
c.1048A>T (p.Lys350Ter)
n.878A>T
c.104A>T
c.1732A>T (p.Lys578Ter)
c.1552A>T (p.Lys518Ter)
c.1312A>T (p.Lys438Ter)
c.931A>T (p.Lys311Ter)
c.-20+15686A>T (n.-20+15686A>T)
c.2863A>T (p.Lys955Ter)
c.2683A>T (p.Lys895Ter)
n.2946A>T
dbSNP
6g.157148894A=CA1675517065ARID1Bc.3032A= (p.Lys1011=)
c.2942A= (p.Lys981=)
c.1046A= (p.Lys349=)
c.3071A= (p.Lys1024=)
c.2783A= (p.Lys928=)
c.1190A= (p.Lys397=)
n.933A=
c.353A= (p.Lys118=)
n.166A=
c.271A=
c.75A=
c.533A= (p.Lys178=)
c.2822A= (p.Lys941=)
n.1781A=
c.1049A= (p.Lys350=)
n.879A=
c.105A=
c.1733A= (p.Lys578=)
c.1553A= (p.Lys518=)
c.1313A= (p.Lys438=)
c.932A= (p.Lys311=)
c.-20+15687A= (n.-20+15687A=)
c.2864A= (p.Lys955=)
c.2684A= (p.Lys895=)
n.2947A=
6g.157148894A>CCA366389186ARID1Bc.3032A>C (p.Lys1011Thr)
c.2942A>C (p.Lys981Thr)
c.1046A>C (p.Lys349Thr)
c.3071A>C (p.Lys1024Thr)
c.2783A>C (p.Lys928Thr)
c.1190A>C (p.Lys397Thr)
n.933A>C
c.353A>C (p.Lys118Thr)
n.166A>C
c.271A>C
c.75A>C
c.533A>C (p.Lys178Thr)
c.2822A>C (p.Lys941Thr)
n.1781A>C
c.1049A>C (p.Lys350Thr)
n.879A>C
c.105A>C
c.1733A>C (p.Lys578Thr)
c.1553A>C (p.Lys518Thr)
c.1313A>C (p.Lys438Thr)
c.932A>C (p.Lys311Thr)
c.-20+15687A>C (n.-20+15687A>C)
c.2864A>C (p.Lys955Thr)
c.2684A>C (p.Lys895Thr)
n.2947A>C
6g.157148894A>GCA366389187ARID1Bc.3032A>G (p.Lys1011Arg)
c.2942A>G (p.Lys981Arg)
c.1046A>G (p.Lys349Arg)
c.3071A>G (p.Lys1024Arg)
c.2783A>G (p.Lys928Arg)
c.1190A>G (p.Lys397Arg)
n.933A>G
c.353A>G (p.Lys118Arg)
n.166A>G
c.271A>G
c.75A>G
c.533A>G (p.Lys178Arg)
c.2822A>G (p.Lys941Arg)
n.1781A>G
c.1049A>G (p.Lys350Arg)
n.879A>G
c.105A>G
c.1733A>G (p.Lys578Arg)
c.1553A>G (p.Lys518Arg)
c.1313A>G (p.Lys438Arg)
c.932A>G (p.Lys311Arg)
c.-20+15687A>G (n.-20+15687A>G)
c.2864A>G (p.Lys955Arg)
c.2684A>G (p.Lys895Arg)
n.2947A>G
dbSNP gnomAD v3 gnomAD v4
6g.157148894A>TCA366389188ARID1Bc.3032A>T (p.Lys1011Met)
c.2942A>T (p.Lys981Met)
c.1046A>T (p.Lys349Met)
c.3071A>T (p.Lys1024Met)
c.2783A>T (p.Lys928Met)
c.1190A>T (p.Lys397Met)
n.933A>T
c.353A>T (p.Lys118Met)
n.166A>T
c.271A>T
c.75A>T
c.533A>T (p.Lys178Met)
c.2822A>T (p.Lys941Met)
n.1781A>T
c.1049A>T (p.Lys350Met)
n.879A>T
c.105A>T
c.1733A>T (p.Lys578Met)
c.1553A>T (p.Lys518Met)
c.1313A>T (p.Lys438Met)
c.932A>T (p.Lys311Met)
c.-20+15687A>T (n.-20+15687A>T)
c.2864A>T (p.Lys955Met)
c.2684A>T (p.Lys895Met)
n.2947A>T
6g.157148895G>ACA452990091ARID1Bc.3033G>A (p.Lys1011=)
c.2943G>A (p.Lys981=)
c.1047G>A (p.Lys349=)
c.3072G>A (p.Lys1024=)
c.2784G>A (p.Lys928=)
c.1191G>A (p.Lys397=)
n.934G>A
c.354G>A (p.Lys118=)
n.167G>A
c.272G>A
c.76G>A
c.534G>A (p.Lys178=)
c.2823G>A (p.Lys941=)
n.1782G>A
c.1050G>A (p.Lys350=)
n.880G>A
c.106G>A
c.1734G>A (p.Lys578=)
c.1554G>A (p.Lys518=)
c.1314G>A (p.Lys438=)
c.933G>A (p.Lys311=)
c.-20+15688G>A (n.-20+15688G>A)
c.2865G>A (p.Lys955=)
c.2685G>A (p.Lys895=)
n.2948G>A
gnomAD v4
6g.157148895G>CCA366389189ARID1Bc.3033G>C (p.Lys1011Asn)
c.2943G>C (p.Lys981Asn)
c.1047G>C (p.Lys349Asn)
c.3072G>C (p.Lys1024Asn)
c.2784G>C (p.Lys928Asn)
c.1191G>C (p.Lys397Asn)
n.934G>C
c.354G>C (p.Lys118Asn)
n.167G>C
c.272G>C
c.76G>C
c.534G>C (p.Lys178Asn)
c.2823G>C (p.Lys941Asn)
n.1782G>C
c.1050G>C (p.Lys350Asn)
n.880G>C
c.106G>C
c.1734G>C (p.Lys578Asn)
c.1554G>C (p.Lys518Asn)
c.1314G>C (p.Lys438Asn)
c.933G>C (p.Lys311Asn)
c.-20+15688G>C (n.-20+15688G>C)
c.2865G>C (p.Lys955Asn)
c.2685G>C (p.Lys895Asn)
n.2948G>C
6g.157148895G=CA1675517066ARID1Bc.3033G= (p.Lys1011=)
c.2943G= (p.Lys981=)
c.1047G= (p.Lys349=)
c.3072G= (p.Lys1024=)
c.2784G= (p.Lys928=)
c.1191G= (p.Lys397=)
n.934G=
c.354G= (p.Lys118=)
n.167G=
c.272G=
c.76G=
c.534G= (p.Lys178=)
c.2823G= (p.Lys941=)
n.1782G=
c.1050G= (p.Lys350=)
n.880G=
c.106G=
c.1734G= (p.Lys578=)
c.1554G= (p.Lys518=)
c.1314G= (p.Lys438=)
c.933G= (p.Lys311=)
c.-20+15688G= (n.-20+15688G=)
c.2865G= (p.Lys955=)
c.2685G= (p.Lys895=)
n.2948G=
6g.157148895G>TCA366389190ARID1Bc.3033G>T (p.Lys1011Asn)
c.2943G>T (p.Lys981Asn)
c.1047G>T (p.Lys349Asn)
c.3072G>T (p.Lys1024Asn)
c.2784G>T (p.Lys928Asn)
c.1191G>T (p.Lys397Asn)
n.934G>T
c.354G>T (p.Lys118Asn)
n.167G>T
c.272G>T
c.76G>T
c.534G>T (p.Lys178Asn)
c.2823G>T (p.Lys941Asn)
n.1782G>T
c.1050G>T (p.Lys350Asn)
n.880G>T
c.106G>T
c.1734G>T (p.Lys578Asn)
c.1554G>T (p.Lys518Asn)
c.1314G>T (p.Lys438Asn)
c.933G>T (p.Lys311Asn)
c.-20+15688G>T (n.-20+15688G>T)
c.2865G>T (p.Lys955Asn)
c.2685G>T (p.Lys895Asn)
n.2948G>T
dbSNP gnomAD v3 gnomAD v4
6g.157148896G>ACA366389191ARID1Bc.3034G>A (p.Ala1012Thr)
c.2944G>A (p.Ala982Thr)
c.1048G>A (p.Ala350Thr)
c.3073G>A (p.Ala1025Thr)
c.2785G>A (p.Ala929Thr)
c.1192G>A (p.Ala398Thr)
n.935G>A
c.355G>A (p.Ala119Thr)
n.168G>A
c.273G>A
c.77G>A
c.535G>A (p.Ala179Thr)
c.2824G>A (p.Ala942Thr)
n.1783G>A
c.1051G>A (p.Ala351Thr)
n.881G>A
c.107G>A
c.1735G>A (p.Ala579Thr)
c.1555G>A (p.Ala519Thr)
c.1315G>A (p.Ala439Thr)
c.934G>A (p.Ala312Thr)
c.-20+15689G>A (n.-20+15689G>A)
c.2866G>A (p.Ala956Thr)
c.2686G>A (p.Ala896Thr)
n.2949G>A
gnomAD v4
6g.157148896G>CCA366389192ARID1Bc.3034G>C (p.Ala1012Pro)
c.2944G>C (p.Ala982Pro)
c.1048G>C (p.Ala350Pro)
c.3073G>C (p.Ala1025Pro)
c.2785G>C (p.Ala929Pro)
c.1192G>C (p.Ala398Pro)
n.935G>C
c.355G>C (p.Ala119Pro)
n.168G>C
c.273G>C
c.77G>C
c.535G>C (p.Ala179Pro)
c.2824G>C (p.Ala942Pro)
n.1783G>C
c.1051G>C (p.Ala351Pro)
n.881G>C
c.107G>C
c.1735G>C (p.Ala579Pro)
c.1555G>C (p.Ala519Pro)
c.1315G>C (p.Ala439Pro)
c.934G>C (p.Ala312Pro)
c.-20+15689G>C (n.-20+15689G>C)
c.2866G>C (p.Ala956Pro)
c.2686G>C (p.Ala896Pro)
n.2949G>C
6g.157148896G>TCA366389193ARID1Bc.3034G>T (p.Ala1012Ser)
c.2944G>T (p.Ala982Ser)
c.1048G>T (p.Ala350Ser)
c.3073G>T (p.Ala1025Ser)
c.2785G>T (p.Ala929Ser)
c.1192G>T (p.Ala398Ser)
n.935G>T
c.355G>T (p.Ala119Ser)
n.168G>T
c.273G>T
c.77G>T
c.535G>T (p.Ala179Ser)
c.2824G>T (p.Ala942Ser)
n.1783G>T
c.1051G>T (p.Ala351Ser)
n.881G>T
c.107G>T
c.1735G>T (p.Ala579Ser)
c.1555G>T (p.Ala519Ser)
c.1315G>T (p.Ala439Ser)
c.934G>T (p.Ala312Ser)
c.-20+15689G>T (n.-20+15689G>T)
c.2866G>T (p.Ala956Ser)
c.2686G>T (p.Ala896Ser)
n.2949G>T
gnomAD v4
6g.157148897C>ACA366389195ARID1Bc.3035C>A (p.Ala1012Glu)
c.2945C>A (p.Ala982Glu)
c.1049C>A (p.Ala350Glu)
c.3074C>A (p.Ala1025Glu)
c.2786C>A (p.Ala929Glu)
c.1193C>A (p.Ala398Glu)
n.936C>A
c.356C>A (p.Ala119Glu)
n.169C>A
c.274C>A
c.78C>A
c.536C>A (p.Ala179Glu)
c.2825C>A (p.Ala942Glu)
n.1784C>A
c.1052C>A (p.Ala351Glu)
n.882C>A
c.108C>A
c.1736C>A (p.Ala579Glu)
c.1556C>A (p.Ala519Glu)
c.1316C>A (p.Ala439Glu)
c.935C>A (p.Ala312Glu)
c.-20+15690C>A (n.-20+15690C>A)
c.2867C>A (p.Ala956Glu)
c.2687C>A (p.Ala896Glu)
n.2950C>A
6g.157148897C>GCA366389196ARID1Bc.3035C>G (p.Ala1012Gly)
c.2945C>G (p.Ala982Gly)
c.1049C>G (p.Ala350Gly)
c.3074C>G (p.Ala1025Gly)
c.2786C>G (p.Ala929Gly)
c.1193C>G (p.Ala398Gly)
n.936C>G
c.356C>G (p.Ala119Gly)
n.169C>G
c.274C>G
c.78C>G
c.536C>G (p.Ala179Gly)
c.2825C>G (p.Ala942Gly)
n.1784C>G
c.1052C>G (p.Ala351Gly)
n.882C>G
c.108C>G
c.1736C>G (p.Ala579Gly)
c.1556C>G (p.Ala519Gly)
c.1316C>G (p.Ala439Gly)
c.935C>G (p.Ala312Gly)
c.-20+15690C>G (n.-20+15690C>G)
c.2867C>G (p.Ala956Gly)
c.2687C>G (p.Ala896Gly)
n.2950C>G
dbSNP
6g.157148897C>TCA366389194ARID1Bc.3035C>T (p.Ala1012Val)
c.2945C>T (p.Ala982Val)
c.1049C>T (p.Ala350Val)
c.3074C>T (p.Ala1025Val)
c.2786C>T (p.Ala929Val)
c.1193C>T (p.Ala398Val)
n.936C>T
c.356C>T (p.Ala119Val)
n.169C>T
c.274C>T
c.78C>T
c.536C>T (p.Ala179Val)
c.2825C>T (p.Ala942Val)
n.1784C>T
c.1052C>T (p.Ala351Val)
n.882C>T
c.108C>T
c.1736C>T (p.Ala579Val)
c.1556C>T (p.Ala519Val)
c.1316C>T (p.Ala439Val)
c.935C>T (p.Ala312Val)
c.-20+15690C>T (n.-20+15690C>T)
c.2867C>T (p.Ala956Val)
c.2687C>T (p.Ala896Val)
n.2950C>T
6g.157148898A>CCA452990093ARID1Bc.3036A>C (p.Ala1012=)
c.2946A>C (p.Ala982=)
c.1050A>C (p.Ala350=)
c.3075A>C (p.Ala1025=)
c.2787A>C (p.Ala929=)
c.1194A>C (p.Ala398=)
n.937A>C
c.357A>C (p.Ala119=)
n.170A>C
c.275A>C
c.79A>C
c.537A>C (p.Ala179=)
c.2826A>C (p.Ala942=)
n.1785A>C
c.1053A>C (p.Ala351=)
n.883A>C
c.109A>C
c.1737A>C (p.Ala579=)
c.1557A>C (p.Ala519=)
c.1317A>C (p.Ala439=)
c.936A>C (p.Ala312=)
c.-20+15691A>C (n.-20+15691A>C)
c.2868A>C (p.Ala956=)
c.2688A>C (p.Ala896=)
n.2951A>C
6g.157148898A>GCA452990094ARID1Bc.3036A>G (p.Ala1012=)
c.2946A>G (p.Ala982=)
c.1050A>G (p.Ala350=)
c.3075A>G (p.Ala1025=)
c.2787A>G (p.Ala929=)
c.1194A>G (p.Ala398=)
n.937A>G
c.357A>G (p.Ala119=)
n.170A>G
c.275A>G
c.79A>G
c.537A>G (p.Ala179=)
c.2826A>G (p.Ala942=)
n.1785A>G
c.1053A>G (p.Ala351=)
n.883A>G
c.109A>G
c.1737A>G (p.Ala579=)
c.1557A>G (p.Ala519=)
c.1317A>G (p.Ala439=)
c.936A>G (p.Ala312=)
c.-20+15691A>G (n.-20+15691A>G)
c.2868A>G (p.Ala956=)
c.2688A>G (p.Ala896=)
n.2951A>G
6g.157148898A>TCA452990095ARID1Bc.3036A>T (p.Ala1012=)
c.2946A>T (p.Ala982=)
c.1050A>T (p.Ala350=)
c.3075A>T (p.Ala1025=)
c.2787A>T (p.Ala929=)
c.1194A>T (p.Ala398=)
n.937A>T
c.357A>T (p.Ala119=)
n.170A>T
c.275A>T
c.79A>T
c.537A>T (p.Ala179=)
c.2826A>T (p.Ala942=)
n.1785A>T
c.1053A>T (p.Ala351=)
n.883A>T
c.109A>T
c.1737A>T (p.Ala579=)
c.1557A>T (p.Ala519=)
c.1317A>T (p.Ala439=)
c.936A>T (p.Ala312=)
c.-20+15691A>T (n.-20+15691A>T)
c.2868A>T (p.Ala956=)
c.2688A>T (p.Ala896=)
n.2951A>T
gnomAD v4
6g.157148899C>ACA366389197ARID1Bc.3037C>A (p.Gln1013Lys)
c.2947C>A (p.Gln983Lys)
c.1051C>A (p.Gln351Lys)
c.3076C>A (p.Gln1026Lys)
c.2788C>A (p.Gln930Lys)
c.1195C>A (p.Gln399Lys)
n.938C>A
c.358C>A (p.Gln120Lys)
n.171C>A
c.276C>A
c.80C>A
c.538C>A (p.Gln180Lys)
c.2827C>A (p.Gln943Lys)
n.1786C>A
c.1054C>A (p.Gln352Lys)
n.884C>A
c.110C>A
c.1738C>A (p.Gln580Lys)
c.1558C>A (p.Gln520Lys)
c.1318C>A (p.Gln440Lys)
c.937C>A (p.Gln313Lys)
c.-20+15692C>A (n.-20+15692C>A)
c.2869C>A (p.Gln957Lys)
c.2689C>A (p.Gln897Lys)
n.2952C>A
6g.157148899C=CA1675517067ARID1Bc.3037C= (p.Gln1013=)
c.2947C= (p.Gln983=)
c.1051C= (p.Gln351=)
c.3076C= (p.Gln1026=)
c.2788C= (p.Gln930=)
c.1195C= (p.Gln399=)
n.938C=
c.358C= (p.Gln120=)
n.171C=
c.276C=
c.80C=
c.538C= (p.Gln180=)
c.2827C= (p.Gln943=)
n.1786C=
c.1054C= (p.Gln352=)
n.884C=
c.110C=
c.1738C= (p.Gln580=)
c.1558C= (p.Gln520=)
c.1318C= (p.Gln440=)
c.937C= (p.Gln313=)
c.-20+15692C= (n.-20+15692C=)
c.2869C= (p.Gln957=)
c.2689C= (p.Gln897=)
n.2952C=
6g.157148899C>GCA366389198ARID1Bc.3037C>G (p.Gln1013Glu)
c.2947C>G (p.Gln983Glu)
c.1051C>G (p.Gln351Glu)
c.3076C>G (p.Gln1026Glu)
c.2788C>G (p.Gln930Glu)
c.1195C>G (p.Gln399Glu)
n.938C>G
c.358C>G (p.Gln120Glu)
n.171C>G
c.276C>G
c.80C>G
c.538C>G (p.Gln180Glu)
c.2827C>G (p.Gln943Glu)
n.1786C>G
c.1054C>G (p.Gln352Glu)
n.884C>G
c.110C>G
c.1738C>G (p.Gln580Glu)
c.1558C>G (p.Gln520Glu)
c.1318C>G (p.Gln440Glu)
c.937C>G (p.Gln313Glu)
c.-20+15692C>G (n.-20+15692C>G)
c.2869C>G (p.Gln957Glu)
c.2689C>G (p.Gln897Glu)
n.2952C>G
6g.157148899C>TCA366389199ARID1Bc.3037C>T (p.Gln1013Ter)
c.2947C>T (p.Gln983Ter)
c.1051C>T (p.Gln351Ter)
c.3076C>T (p.Gln1026Ter)
c.2788C>T (p.Gln930Ter)
c.1195C>T (p.Gln399Ter)
n.938C>T
c.358C>T (p.Gln120Ter)
n.171C>T
c.276C>T
c.80C>T
c.538C>T (p.Gln180Ter)
c.2827C>T (p.Gln943Ter)
n.1786C>T
c.1054C>T (p.Gln352Ter)
n.884C>T
c.110C>T
c.1738C>T (p.Gln580Ter)
c.1558C>T (p.Gln520Ter)
c.1318C>T (p.Gln440Ter)
c.937C>T (p.Gln313Ter)
c.-20+15692C>T (n.-20+15692C>T)
c.2869C>T (p.Gln957Ter)
c.2689C>T (p.Gln897Ter)
n.2952C>T
6g.157148900A=CA1675517068ARID1Bc.3038A= (p.Gln1013=)
c.2948A= (p.Gln983=)
c.1052A= (p.Gln351=)
c.3077A= (p.Gln1026=)
c.2789A= (p.Gln930=)
c.1196A= (p.Gln399=)
n.939A=
c.359A= (p.Gln120=)
n.172A=
c.277A=
c.81A=
c.539A= (p.Gln180=)
c.2828A= (p.Gln943=)
n.1787A=
c.1055A= (p.Gln352=)
n.885A=
c.111A=
c.1739A= (p.Gln580=)
c.1559A= (p.Gln520=)
c.1319A= (p.Gln440=)
c.938A= (p.Gln313=)
c.-20+15693A= (n.-20+15693A=)
c.2870A= (p.Gln957=)
c.2690A= (p.Gln897=)
n.2953A=
6g.157148900A>CCA366389200ARID1Bc.3038A>C (p.Gln1013Pro)
c.2948A>C (p.Gln983Pro)
c.1052A>C (p.Gln351Pro)
c.3077A>C (p.Gln1026Pro)
c.2789A>C (p.Gln930Pro)
c.1196A>C (p.Gln399Pro)
n.939A>C
c.359A>C (p.Gln120Pro)
n.172A>C
c.277A>C
c.81A>C
c.539A>C (p.Gln180Pro)
c.2828A>C (p.Gln943Pro)
n.1787A>C
c.1055A>C (p.Gln352Pro)
n.885A>C
c.111A>C
c.1739A>C (p.Gln580Pro)
c.1559A>C (p.Gln520Pro)
c.1319A>C (p.Gln440Pro)
c.938A>C (p.Gln313Pro)
c.-20+15693A>C (n.-20+15693A>C)
c.2870A>C (p.Gln957Pro)
c.2690A>C (p.Gln897Pro)
n.2953A>C
6g.157148900A>GCA366389201ARID1Bc.3038A>G (p.Gln1013Arg)
c.2948A>G (p.Gln983Arg)
c.1052A>G (p.Gln351Arg)
c.3077A>G (p.Gln1026Arg)
c.2789A>G (p.Gln930Arg)
c.1196A>G (p.Gln399Arg)
n.939A>G
c.359A>G (p.Gln120Arg)
n.172A>G
c.277A>G
c.81A>G
c.539A>G (p.Gln180Arg)
c.2828A>G (p.Gln943Arg)
n.1787A>G
c.1055A>G (p.Gln352Arg)
n.885A>G
c.111A>G
c.1739A>G (p.Gln580Arg)
c.1559A>G (p.Gln520Arg)
c.1319A>G (p.Gln440Arg)
c.938A>G (p.Gln313Arg)
c.-20+15693A>G (n.-20+15693A>G)
c.2870A>G (p.Gln957Arg)
c.2690A>G (p.Gln897Arg)
n.2953A>G
dbSNP gnomAD v3 gnomAD v4
6g.157148900A>TCA366389202ARID1Bc.3038A>T (p.Gln1013Leu)
c.2948A>T (p.Gln983Leu)
c.1052A>T (p.Gln351Leu)
c.3077A>T (p.Gln1026Leu)
c.2789A>T (p.Gln930Leu)
c.1196A>T (p.Gln399Leu)
n.939A>T
c.359A>T (p.Gln120Leu)
n.172A>T
c.277A>T
c.81A>T
c.539A>T (p.Gln180Leu)
c.2828A>T (p.Gln943Leu)
n.1787A>T
c.1055A>T (p.Gln352Leu)
n.885A>T
c.111A>T
c.1739A>T (p.Gln580Leu)
c.1559A>T (p.Gln520Leu)
c.1319A>T (p.Gln440Leu)
c.938A>T (p.Gln313Leu)
c.-20+15693A>T (n.-20+15693A>T)
c.2870A>T (p.Gln957Leu)
c.2690A>T (p.Gln897Leu)
n.2953A>T
6g.157148900dupCA658796869ARID1Bc.3038dup (p.Glu1014GlyfsTer?)
c.2948dup (p.Glu984GlyfsTer?)
c.3038dup (p.Glu1014GlyfsTer22)
c.1052dup (p.Glu352GlyfsTer?)
c.3077dup (p.Glu1027GlyfsTer?)
c.2789dup (p.Glu931GlyfsTer?)
c.1196dup (p.Glu400GlyfsTer?)
n.939dup
c.359dup (p.Glu121GlyfsTer?)
n.172dup
c.277dup
c.81dup
c.539dup (p.Glu181GlyfsTer?)
c.2828dup (p.Glu944GlyfsTer?)
n.1787dup
c.1055dup (p.Glu353GlyfsTer?)
n.885dup
c.111dup
c.1739dup (p.Glu581GlyfsTer22)
c.1559dup (p.Glu521GlyfsTer22)
c.1319dup (p.Glu441GlyfsTer22)
c.938dup (p.Glu314GlyfsTer22)
c.-20+15693dup (n.-20+15693dup)
c.2870dup (p.Glu958GlyfsTer22)
c.2870dup (p.Glu958GlyfsTer?)
c.2690dup (p.Glu898GlyfsTer?)
n.2953dup
ClinVar dbSNP
6g.157148901G>ACA452990097ARID1Bc.3039G>A (p.Gln1013=)
c.2949G>A (p.Gln983=)
c.1053G>A (p.Gln351=)
c.3078G>A (p.Gln1026=)
c.2790G>A (p.Gln930=)
c.1197G>A (p.Gln399=)
n.940G>A
c.360G>A (p.Gln120=)
n.173G>A
c.278G>A
c.82G>A
c.540G>A (p.Gln180=)
c.2829G>A (p.Gln943=)
n.1788G>A
c.1056G>A (p.Gln352=)
n.886G>A
c.112G>A
c.1740G>A (p.Gln580=)
c.1560G>A (p.Gln520=)
c.1320G>A (p.Gln440=)
c.939G>A (p.Gln313=)
c.-20+15694G>A (n.-20+15694G>A)
c.2871G>A (p.Gln957=)
c.2691G>A (p.Gln897=)
n.2954G>A
dbSNP gnomAD v4
6g.157148901G>CCA366389203ARID1Bc.3039G>C (p.Gln1013His)
c.2949G>C (p.Gln983His)
c.1053G>C (p.Gln351His)
c.3078G>C (p.Gln1026His)
c.2790G>C (p.Gln930His)
c.1197G>C (p.Gln399His)
n.940G>C
c.360G>C (p.Gln120His)
n.173G>C
c.278G>C
c.82G>C
c.540G>C (p.Gln180His)
c.2829G>C (p.Gln943His)
n.1788G>C
c.1056G>C (p.Gln352His)
n.886G>C
c.112G>C
c.1740G>C (p.Gln580His)
c.1560G>C (p.Gln520His)
c.1320G>C (p.Gln440His)
c.939G>C (p.Gln313His)
c.-20+15694G>C (n.-20+15694G>C)
c.2871G>C (p.Gln957His)
c.2691G>C (p.Gln897His)
n.2954G>C
6g.157148901G>TCA366389204ARID1Bc.3039G>T (p.Gln1013His)
c.2949G>T (p.Gln983His)
c.1053G>T (p.Gln351His)
c.3078G>T (p.Gln1026His)
c.2790G>T (p.Gln930His)
c.1197G>T (p.Gln399His)
n.940G>T
c.360G>T (p.Gln120His)
n.173G>T
c.278G>T
c.82G>T
c.540G>T (p.Gln180His)
c.2829G>T (p.Gln943His)
n.1788G>T
c.1056G>T (p.Gln352His)
n.886G>T
c.112G>T
c.1740G>T (p.Gln580His)
c.1560G>T (p.Gln520His)
c.1320G>T (p.Gln440His)
c.939G>T (p.Gln313His)
c.-20+15694G>T (n.-20+15694G>T)
c.2871G>T (p.Gln957His)
c.2691G>T (p.Gln897His)
n.2954G>T
6g.157148902G>ACA366389205ARID1Bc.3040G>A (p.Glu1014Lys)
c.2950G>A (p.Glu984Lys)
c.1054G>A (p.Glu352Lys)
c.3079G>A (p.Glu1027Lys)
c.2791G>A (p.Glu931Lys)
c.1198G>A (p.Glu400Lys)
n.941G>A
c.361G>A (p.Glu121Lys)
n.174G>A
c.279G>A
c.83G>A
c.541G>A (p.Glu181Lys)
c.2830G>A (p.Glu944Lys)
n.1789G>A
c.1057G>A (p.Glu353Lys)
n.887G>A
c.113G>A
c.1741G>A (p.Glu581Lys)
c.1561G>A (p.Glu521Lys)
c.1321G>A (p.Glu441Lys)
c.940G>A (p.Glu314Lys)
c.-20+15695G>A (n.-20+15695G>A)
c.2872G>A (p.Glu958Lys)
c.2692G>A (p.Glu898Lys)
n.2955G>A
gnomAD v4
6g.157148902G>CCA366389206ARID1Bc.3040G>C (p.Glu1014Gln)
c.2950G>C (p.Glu984Gln)
c.1054G>C (p.Glu352Gln)
c.3079G>C (p.Glu1027Gln)
c.2791G>C (p.Glu931Gln)
c.1198G>C (p.Glu400Gln)
n.941G>C
c.361G>C (p.Glu121Gln)
n.174G>C
c.279G>C
c.83G>C
c.541G>C (p.Glu181Gln)
c.2830G>C (p.Glu944Gln)
n.1789G>C
c.1057G>C (p.Glu353Gln)
n.887G>C
c.113G>C
c.1741G>C (p.Glu581Gln)
c.1561G>C (p.Glu521Gln)
c.1321G>C (p.Glu441Gln)
c.940G>C (p.Glu314Gln)
c.-20+15695G>C (n.-20+15695G>C)
c.2872G>C (p.Glu958Gln)
c.2692G>C (p.Glu898Gln)
n.2955G>C
6g.157148902G=CA1675517069ARID1Bc.3040G= (p.Glu1014=)
c.2950G= (p.Glu984=)
c.1054G= (p.Glu352=)
c.3079G= (p.Glu1027=)
c.2791G= (p.Glu931=)
c.1198G= (p.Glu400=)
n.941G=
c.361G= (p.Glu121=)
n.174G=
c.279G=
c.83G=
c.541G= (p.Glu181=)
c.2830G= (p.Glu944=)
n.1789G=
c.1057G= (p.Glu353=)
n.887G=
c.113G=
c.1741G= (p.Glu581=)
c.1561G= (p.Glu521=)
c.1321G= (p.Glu441=)
c.940G= (p.Glu314=)
c.-20+15695G= (n.-20+15695G=)
c.2872G= (p.Glu958=)
c.2692G= (p.Glu898=)
n.2955G=
6g.157148902G>TCA366389207ARID1Bc.3040G>T (p.Glu1014Ter)
c.2950G>T (p.Glu984Ter)
c.1054G>T (p.Glu352Ter)
c.3079G>T (p.Glu1027Ter)
c.2791G>T (p.Glu931Ter)
c.1198G>T (p.Glu400Ter)
n.941G>T
c.361G>T (p.Glu121Ter)
n.174G>T
c.279G>T
c.83G>T
c.541G>T (p.Glu181Ter)
c.2830G>T (p.Glu944Ter)
n.1789G>T
c.1057G>T (p.Glu353Ter)
n.887G>T
c.113G>T
c.1741G>T (p.Glu581Ter)
c.1561G>T (p.Glu521Ter)
c.1321G>T (p.Glu441Ter)
c.940G>T (p.Glu314Ter)
c.-20+15695G>T (n.-20+15695G>T)
c.2872G>T (p.Glu958Ter)
c.2692G>T (p.Glu898Ter)
n.2955G>T
dbSNP
6g.157148903A=CA1675517070ARID1Bc.3041A= (p.Glu1014=)
c.2951A= (p.Glu984=)
c.1055A= (p.Glu352=)
c.3080A= (p.Glu1027=)
c.2792A= (p.Glu931=)
c.1199A= (p.Glu400=)
n.942A=
c.362A= (p.Glu121=)
n.175A=
c.280A=
c.84A=
c.542A= (p.Glu181=)
c.2831A= (p.Glu944=)
n.1790A=
c.1058A= (p.Glu353=)
n.888A=
c.114A=
c.1742A= (p.Glu581=)
c.1562A= (p.Glu521=)
c.1322A= (p.Glu441=)
c.941A= (p.Glu314=)
c.-20+15696A= (n.-20+15696A=)
c.2873A= (p.Glu958=)
c.2693A= (p.Glu898=)
n.2956A=
6g.157148903A>CCA366389208ARID1Bc.3041A>C (p.Glu1014Ala)
c.2951A>C (p.Glu984Ala)
c.1055A>C (p.Glu352Ala)
c.3080A>C (p.Glu1027Ala)
c.2792A>C (p.Glu931Ala)
c.1199A>C (p.Glu400Ala)
n.942A>C
c.362A>C (p.Glu121Ala)
n.175A>C
c.280A>C
c.84A>C
c.542A>C (p.Glu181Ala)
c.2831A>C (p.Glu944Ala)
n.1790A>C
c.1058A>C (p.Glu353Ala)
n.888A>C
c.114A>C
c.1742A>C (p.Glu581Ala)
c.1562A>C (p.Glu521Ala)
c.1322A>C (p.Glu441Ala)
c.941A>C (p.Glu314Ala)
c.-20+15696A>C (n.-20+15696A>C)
c.2873A>C (p.Glu958Ala)
c.2693A>C (p.Glu898Ala)
n.2956A>C
6g.157148903A>GCA366389209ARID1Bc.3041A>G (p.Glu1014Gly)
c.2951A>G (p.Glu984Gly)
c.1055A>G (p.Glu352Gly)
c.3080A>G (p.Glu1027Gly)
c.2792A>G (p.Glu931Gly)
c.1199A>G (p.Glu400Gly)
n.942A>G
c.362A>G (p.Glu121Gly)
n.175A>G
c.280A>G
c.84A>G
c.542A>G (p.Glu181Gly)
c.2831A>G (p.Glu944Gly)
n.1790A>G
c.1058A>G (p.Glu353Gly)
n.888A>G
c.114A>G
c.1742A>G (p.Glu581Gly)
c.1562A>G (p.Glu521Gly)
c.1322A>G (p.Glu441Gly)
c.941A>G (p.Glu314Gly)
c.-20+15696A>G (n.-20+15696A>G)
c.2873A>G (p.Glu958Gly)
c.2693A>G (p.Glu898Gly)
n.2956A>G
6g.157148903A>TCA366389210ARID1Bc.3041A>T (p.Glu1014Val)
c.2951A>T (p.Glu984Val)
c.1055A>T (p.Glu352Val)
c.3080A>T (p.Glu1027Val)
c.2792A>T (p.Glu931Val)
c.1199A>T (p.Glu400Val)
n.942A>T
c.362A>T (p.Glu121Val)
n.175A>T
c.280A>T
c.84A>T
c.542A>T (p.Glu181Val)
c.2831A>T (p.Glu944Val)
n.1790A>T
c.1058A>T (p.Glu353Val)
n.888A>T
c.114A>T
c.1742A>T (p.Glu581Val)
c.1562A>T (p.Glu521Val)
c.1322A>T (p.Glu441Val)
c.941A>T (p.Glu314Val)
c.-20+15696A>T (n.-20+15696A>T)
c.2873A>T (p.Glu958Val)
c.2693A>T (p.Glu898Val)
n.2956A>T
6g.157148904G>ACA452990098ARID1Bc.3042G>A (p.Glu1014=)
c.2952G>A (p.Glu984=)
c.1056G>A (p.Glu352=)
c.3081G>A (p.Glu1027=)
c.2793G>A (p.Glu931=)
c.1200G>A (p.Glu400=)
n.943G>A
c.363G>A (p.Glu121=)
n.176G>A
c.281G>A
c.85G>A
c.543G>A (p.Glu181=)
c.2832G>A (p.Glu944=)
n.1791G>A
c.1059G>A (p.Glu353=)
n.889G>A
c.115G>A
c.1743G>A (p.Glu581=)
c.1563G>A (p.Glu521=)
c.1323G>A (p.Glu441=)
c.942G>A (p.Glu314=)
c.-20+15697G>A (n.-20+15697G>A)
c.2874G>A (p.Glu958=)
c.2694G>A (p.Glu898=)
n.2957G>A
6g.157148904G>CCA366389211ARID1Bc.3042G>C (p.Glu1014Asp)
c.2952G>C (p.Glu984Asp)
c.1056G>C (p.Glu352Asp)
c.3081G>C (p.Glu1027Asp)
c.2793G>C (p.Glu931Asp)
c.1200G>C (p.Glu400Asp)
n.943G>C
c.363G>C (p.Glu121Asp)
n.176G>C
c.281G>C
c.85G>C
c.543G>C (p.Glu181Asp)
c.2832G>C (p.Glu944Asp)
n.1791G>C
c.1059G>C (p.Glu353Asp)
n.889G>C
c.115G>C
c.1743G>C (p.Glu581Asp)
c.1563G>C (p.Glu521Asp)
c.1323G>C (p.Glu441Asp)
c.942G>C (p.Glu314Asp)
c.-20+15697G>C (n.-20+15697G>C)
c.2874G>C (p.Glu958Asp)
c.2694G>C (p.Glu898Asp)
n.2957G>C
6g.157148904G>TCA366389212ARID1Bc.3042G>T (p.Glu1014Asp)
c.2952G>T (p.Glu984Asp)
c.1056G>T (p.Glu352Asp)
c.3081G>T (p.Glu1027Asp)
c.2793G>T (p.Glu931Asp)
c.1200G>T (p.Glu400Asp)
n.943G>T
c.363G>T (p.Glu121Asp)
n.176G>T
c.281G>T
c.85G>T
c.543G>T (p.Glu181Asp)
c.2832G>T (p.Glu944Asp)
n.1791G>T
c.1059G>T (p.Glu353Asp)
n.889G>T
c.115G>T
c.1743G>T (p.Glu581Asp)
c.1563G>T (p.Glu521Asp)
c.1323G>T (p.Glu441Asp)
c.942G>T (p.Glu314Asp)
c.-20+15697G>T (n.-20+15697G>T)
c.2874G>T (p.Glu958Asp)
c.2694G>T (p.Glu898Asp)
n.2957G>T
6g.157148905dupCA1139659887ARID1Bc.3043dup (p.Ala1015GlyfsTer?)
c.2953dup (p.Ala985GlyfsTer?)
c.3043dup (p.Ala1015GlyfsTer21)
c.1057dup (p.Ala353GlyfsTer?)
c.3082dup (p.Ala1028GlyfsTer?)
c.2794dup (p.Ala932GlyfsTer?)
c.1201dup (p.Ala401GlyfsTer?)
n.944dup
c.364dup (p.Ala122GlyfsTer?)
n.177dup
c.282dup
c.86dup
c.544dup (p.Ala182GlyfsTer?)
c.2833dup (p.Ala945GlyfsTer?)
n.1792dup
c.1060dup (p.Ala354GlyfsTer?)
n.890dup
c.116dup
c.1744dup (p.Ala582GlyfsTer21)
c.1564dup (p.Ala522GlyfsTer21)
c.1324dup (p.Ala442GlyfsTer21)
c.943dup (p.Ala315GlyfsTer21)
c.-20+15698dup (n.-20+15698dup)
c.2875dup (p.Ala959GlyfsTer21)
c.2875dup (p.Ala959GlyfsTer?)
c.2695dup (p.Ala899GlyfsTer?)
n.2958dup
ClinVar dbSNP
6g.157148905G>ACA366389213ARID1Bc.3043G>A (p.Ala1015Thr)
c.2953G>A (p.Ala985Thr)
c.1057G>A (p.Ala353Thr)
c.3082G>A (p.Ala1028Thr)
c.2794G>A (p.Ala932Thr)
c.1201G>A (p.Ala401Thr)
n.944G>A
c.364G>A (p.Ala122Thr)
n.177G>A
c.282G>A
c.86G>A
c.544G>A (p.Ala182Thr)
c.2833G>A (p.Ala945Thr)
n.1792G>A
c.1060G>A (p.Ala354Thr)
n.890G>A
c.116G>A
c.1744G>A (p.Ala582Thr)
c.1564G>A (p.Ala522Thr)
c.1324G>A (p.Ala442Thr)
c.943G>A (p.Ala315Thr)
c.-20+15698G>A (n.-20+15698G>A)
c.2875G>A (p.Ala959Thr)
c.2695G>A (p.Ala899Thr)
n.2958G>A
6g.157148905G>CCA366389214ARID1Bc.3043G>C (p.Ala1015Pro)
c.2953G>C (p.Ala985Pro)
c.1057G>C (p.Ala353Pro)
c.3082G>C (p.Ala1028Pro)
c.2794G>C (p.Ala932Pro)
c.1201G>C (p.Ala401Pro)
n.944G>C
c.364G>C (p.Ala122Pro)
n.177G>C
c.282G>C
c.86G>C
c.544G>C (p.Ala182Pro)
c.2833G>C (p.Ala945Pro)
n.1792G>C
c.1060G>C (p.Ala354Pro)
n.890G>C
c.116G>C
c.1744G>C (p.Ala582Pro)
c.1564G>C (p.Ala522Pro)
c.1324G>C (p.Ala442Pro)
c.943G>C (p.Ala315Pro)
c.-20+15698G>C (n.-20+15698G>C)
c.2875G>C (p.Ala959Pro)
c.2695G>C (p.Ala899Pro)
n.2958G>C
dbSNP gnomAD v2 gnomAD v4
6g.157148905G=CA1675517071ARID1Bc.3043G= (p.Ala1015=)
c.2953G= (p.Ala985=)
c.1057G= (p.Ala353=)
c.3082G= (p.Ala1028=)
c.2794G= (p.Ala932=)
c.1201G= (p.Ala401=)
n.944G=
c.364G= (p.Ala122=)
n.177G=
c.282G=
c.86G=
c.544G= (p.Ala182=)
c.2833G= (p.Ala945=)
n.1792G=
c.1060G= (p.Ala354=)
n.890G=
c.116G=
c.1744G= (p.Ala582=)
c.1564G= (p.Ala522=)
c.1324G= (p.Ala442=)
c.943G= (p.Ala315=)
c.-20+15698G= (n.-20+15698G=)
c.2875G= (p.Ala959=)
c.2695G= (p.Ala899=)
n.2958G=
6g.157148905G>TCA366389215ARID1Bc.3043G>T (p.Ala1015Ser)
c.2953G>T (p.Ala985Ser)
c.1057G>T (p.Ala353Ser)
c.3082G>T (p.Ala1028Ser)
c.2794G>T (p.Ala932Ser)
c.1201G>T (p.Ala401Ser)
n.944G>T
c.364G>T (p.Ala122Ser)
n.177G>T
c.282G>T
c.86G>T
c.544G>T (p.Ala182Ser)
c.2833G>T (p.Ala945Ser)
n.1792G>T
c.1060G>T (p.Ala354Ser)
n.890G>T
c.116G>T
c.1744G>T (p.Ala582Ser)
c.1564G>T (p.Ala522Ser)
c.1324G>T (p.Ala442Ser)
c.943G>T (p.Ala315Ser)
c.-20+15698G>T (n.-20+15698G>T)
c.2875G>T (p.Ala959Ser)
c.2695G>T (p.Ala899Ser)
n.2958G>T
6g.157148906C>ACA366389216ARID1Bc.3044C>A (p.Ala1015Glu)
c.2954C>A (p.Ala985Glu)
c.1058C>A (p.Ala353Glu)
c.3083C>A (p.Ala1028Glu)
c.2795C>A (p.Ala932Glu)
c.1202C>A (p.Ala401Glu)
n.945C>A
c.365C>A (p.Ala122Glu)
n.178C>A
c.283C>A
c.87C>A
c.545C>A (p.Ala182Glu)
c.2834C>A (p.Ala945Glu)
n.1793C>A
c.1061C>A (p.Ala354Glu)
n.891C>A
c.117C>A
c.1745C>A (p.Ala582Glu)
c.1565C>A (p.Ala522Glu)
c.1325C>A (p.Ala442Glu)
c.944C>A (p.Ala315Glu)
c.-20+15699C>A (n.-20+15699C>A)
c.2876C>A (p.Ala959Glu)
c.2696C>A (p.Ala899Glu)
n.2959C>A
6g.157148906C>GCA366389217ARID1Bc.3044C>G (p.Ala1015Gly)
c.2954C>G (p.Ala985Gly)
c.1058C>G (p.Ala353Gly)
c.3083C>G (p.Ala1028Gly)
c.2795C>G (p.Ala932Gly)
c.1202C>G (p.Ala401Gly)
n.945C>G
c.365C>G (p.Ala122Gly)
n.178C>G
c.283C>G
c.87C>G
c.545C>G (p.Ala182Gly)
c.2834C>G (p.Ala945Gly)
n.1793C>G
c.1061C>G (p.Ala354Gly)
n.891C>G
c.117C>G
c.1745C>G (p.Ala582Gly)
c.1565C>G (p.Ala522Gly)
c.1325C>G (p.Ala442Gly)
c.944C>G (p.Ala315Gly)
c.-20+15699C>G (n.-20+15699C>G)
c.2876C>G (p.Ala959Gly)
c.2696C>G (p.Ala899Gly)
n.2959C>G
dbSNP
6g.157148906C>TCA366389218ARID1Bc.3044C>T (p.Ala1015Val)
c.2954C>T (p.Ala985Val)
c.1058C>T (p.Ala353Val)
c.3083C>T (p.Ala1028Val)
c.2795C>T (p.Ala932Val)
c.1202C>T (p.Ala401Val)
n.945C>T
c.365C>T (p.Ala122Val)
n.178C>T
c.283C>T
c.87C>T
c.545C>T (p.Ala182Val)
c.2834C>T (p.Ala945Val)
n.1793C>T
c.1061C>T (p.Ala354Val)
n.891C>T
c.117C>T
c.1745C>T (p.Ala582Val)
c.1565C>T (p.Ala522Val)
c.1325C>T (p.Ala442Val)
c.944C>T (p.Ala315Val)
c.-20+15699C>T (n.-20+15699C>T)
c.2876C>T (p.Ala959Val)
c.2696C>T (p.Ala899Val)
n.2959C>T
dbSNP
6g.157148907A>CCA452990100ARID1Bc.3045A>C (p.Ala1015=)
c.2955A>C (p.Ala985=)
c.1059A>C (p.Ala353=)
c.3084A>C (p.Ala1028=)
c.2796A>C (p.Ala932=)
c.1203A>C (p.Ala401=)
n.946A>C
c.366A>C (p.Ala122=)
n.179A>C
c.284A>C
c.88A>C
c.546A>C (p.Ala182=)
c.2835A>C (p.Ala945=)
n.1794A>C
c.1062A>C (p.Ala354=)
n.892A>C
c.118A>C
c.1746A>C (p.Ala582=)
c.1566A>C (p.Ala522=)
c.1326A>C (p.Ala442=)
c.945A>C (p.Ala315=)
c.-20+15700A>C (n.-20+15700A>C)
c.2877A>C (p.Ala959=)
c.2697A>C (p.Ala899=)
n.2960A>C
6g.157148907A>GCA452990101ARID1Bc.3045A>G (p.Ala1015=)
c.2955A>G (p.Ala985=)
c.1059A>G (p.Ala353=)
c.3084A>G (p.Ala1028=)
c.2796A>G (p.Ala932=)
c.1203A>G (p.Ala401=)
n.946A>G
c.366A>G (p.Ala122=)
n.179A>G
c.284A>G
c.88A>G
c.546A>G (p.Ala182=)
c.2835A>G (p.Ala945=)
n.1794A>G
c.1062A>G (p.Ala354=)
n.892A>G
c.118A>G
c.1746A>G (p.Ala582=)
c.1566A>G (p.Ala522=)
c.1326A>G (p.Ala442=)
c.945A>G (p.Ala315=)
c.-20+15700A>G (n.-20+15700A>G)
c.2877A>G (p.Ala959=)
c.2697A>G (p.Ala899=)
n.2960A>G
6g.157148907A>TCA452990102ARID1Bc.3045A>T (p.Ala1015=)
c.2955A>T (p.Ala985=)
c.1059A>T (p.Ala353=)
c.3084A>T (p.Ala1028=)
c.2796A>T (p.Ala932=)
c.1203A>T (p.Ala401=)
n.946A>T
c.366A>T (p.Ala122=)
n.179A>T
c.284A>T
c.88A>T
c.546A>T (p.Ala182=)
c.2835A>T (p.Ala945=)
n.1794A>T
c.1062A>T (p.Ala354=)
n.892A>T
c.118A>T
c.1746A>T (p.Ala582=)
c.1566A>T (p.Ala522=)
c.1326A>T (p.Ala442=)
c.945A>T (p.Ala315=)
c.-20+15700A>T (n.-20+15700A>T)
c.2877A>T (p.Ala959=)
c.2697A>T (p.Ala899=)
n.2960A>T
6g.157148908G>ACA366389219ARID1Bc.3046G>A (p.Ala1016Thr)
c.2956G>A (p.Ala986Thr)
c.1060G>A (p.Ala354Thr)
c.3085G>A (p.Ala1029Thr)
c.2797G>A (p.Ala933Thr)
c.1204G>A (p.Ala402Thr)
n.947G>A
c.367G>A (p.Ala123Thr)
c.1G>A (p.Ala1Thr)
n.180G>A
c.285G>A
c.89G>A
c.547G>A (p.Ala183Thr)
c.2836G>A (p.Ala946Thr)
n.1795G>A
c.1063G>A (p.Ala355Thr)
n.893G>A
c.119G>A
c.1747G>A (p.Ala583Thr)
c.1567G>A (p.Ala523Thr)
c.1327G>A (p.Ala443Thr)
c.946G>A (p.Ala316Thr)
c.-20+15701G>A (n.-20+15701G>A)
c.2878G>A (p.Ala960Thr)
c.2698G>A (p.Ala900Thr)
n.2961G>A
dbSNP
6g.157148908G>CCA366389220ARID1Bc.3046G>C (p.Ala1016Pro)
c.2956G>C (p.Ala986Pro)
c.1060G>C (p.Ala354Pro)
c.3085G>C (p.Ala1029Pro)
c.2797G>C (p.Ala933Pro)
c.1204G>C (p.Ala402Pro)
n.947G>C
c.367G>C (p.Ala123Pro)
c.1G>C (p.Ala1Pro)
n.180G>C
c.285G>C
c.89G>C
c.547G>C (p.Ala183Pro)
c.2836G>C (p.Ala946Pro)
n.1795G>C
c.1063G>C (p.Ala355Pro)
n.893G>C
c.119G>C
c.1747G>C (p.Ala583Pro)
c.1567G>C (p.Ala523Pro)
c.1327G>C (p.Ala443Pro)
c.946G>C (p.Ala316Pro)
c.-20+15701G>C (n.-20+15701G>C)
c.2878G>C (p.Ala960Pro)
c.2698G>C (p.Ala900Pro)
n.2961G>C
6g.157148908G>TCA366389221ARID1Bc.3046G>T (p.Ala1016Ser)
c.2956G>T (p.Ala986Ser)
c.1060G>T (p.Ala354Ser)
c.3085G>T (p.Ala1029Ser)
c.2797G>T (p.Ala933Ser)
c.1204G>T (p.Ala402Ser)
n.947G>T
c.367G>T (p.Ala123Ser)
c.1G>T (p.Ala1Ser)
n.180G>T
c.285G>T
c.89G>T
c.547G>T (p.Ala183Ser)
c.2836G>T (p.Ala946Ser)
n.1795G>T
c.1063G>T (p.Ala355Ser)
n.893G>T
c.119G>T
c.1747G>T (p.Ala583Ser)
c.1567G>T (p.Ala523Ser)
c.1327G>T (p.Ala443Ser)
c.946G>T (p.Ala316Ser)
c.-20+15701G>T (n.-20+15701G>T)
c.2878G>T (p.Ala960Ser)
c.2698G>T (p.Ala900Ser)
n.2961G>T
6g.157148909C>ACA366389222ARID1Bc.3047C>A (p.Ala1016Asp)
c.2957C>A (p.Ala986Asp)
c.1061C>A (p.Ala354Asp)
c.3086C>A (p.Ala1029Asp)
c.2798C>A (p.Ala933Asp)
c.1205C>A (p.Ala402Asp)
n.948C>A
c.368C>A (p.Ala123Asp)
c.2C>A (p.Ala1Asp)
n.181C>A
c.286C>A
c.90C>A
c.548C>A (p.Ala183Asp)
c.2837C>A (p.Ala946Asp)
n.1796C>A
c.1064C>A (p.Ala355Asp)
n.894C>A
c.120C>A
c.1748C>A (p.Ala583Asp)
c.1568C>A (p.Ala523Asp)
c.1328C>A (p.Ala443Asp)
c.947C>A (p.Ala316Asp)
c.-20+15702C>A (n.-20+15702C>A)
c.2879C>A (p.Ala960Asp)
c.2699C>A (p.Ala900Asp)
n.2962C>A
dbSNP
6g.157148909C>GCA366389223ARID1Bc.3047C>G (p.Ala1016Gly)
c.2957C>G (p.Ala986Gly)
c.1061C>G (p.Ala354Gly)
c.3086C>G (p.Ala1029Gly)
c.2798C>G (p.Ala933Gly)
c.1205C>G (p.Ala402Gly)
n.948C>G
c.368C>G (p.Ala123Gly)
c.2C>G (p.Ala1Gly)
n.181C>G
c.286C>G
c.90C>G
c.548C>G (p.Ala183Gly)
c.2837C>G (p.Ala946Gly)
n.1796C>G
c.1064C>G (p.Ala355Gly)
n.894C>G
c.120C>G
c.1748C>G (p.Ala583Gly)
c.1568C>G (p.Ala523Gly)
c.1328C>G (p.Ala443Gly)
c.947C>G (p.Ala316Gly)
c.-20+15702C>G (n.-20+15702C>G)
c.2879C>G (p.Ala960Gly)
c.2699C>G (p.Ala900Gly)
n.2962C>G
dbSNP gnomAD v4
6g.157148909C>TCA366389224ARID1Bc.3047C>T (p.Ala1016Val)
c.2957C>T (p.Ala986Val)
c.1061C>T (p.Ala354Val)
c.3086C>T (p.Ala1029Val)
c.2798C>T (p.Ala933Val)
c.1205C>T (p.Ala402Val)
n.948C>T
c.368C>T (p.Ala123Val)
c.2C>T (p.Ala1Val)
n.181C>T
c.286C>T
c.90C>T
c.548C>T (p.Ala183Val)
c.2837C>T (p.Ala946Val)
n.1796C>T
c.1064C>T (p.Ala355Val)
n.894C>T
c.120C>T
c.1748C>T (p.Ala583Val)
c.1568C>T (p.Ala523Val)
c.1328C>T (p.Ala443Val)
c.947C>T (p.Ala316Val)
c.-20+15702C>T (n.-20+15702C>T)
c.2879C>T (p.Ala960Val)
c.2699C>T (p.Ala900Val)
n.2962C>T
dbSNP
6g.157148910C>ACA452990104ARID1Bc.3048C>A (p.Ala1016=)
c.2958C>A (p.Ala986=)
c.1062C>A (p.Ala354=)
c.3087C>A (p.Ala1029=)
c.2799C>A (p.Ala933=)
c.1206C>A (p.Ala402=)
n.949C>A
c.369C>A (p.Ala123=)
c.3C>A (p.Ala1=)
n.182C>A
c.287C>A
c.91C>A
c.549C>A (p.Ala183=)
c.2838C>A (p.Ala946=)
n.1797C>A
c.1065C>A (p.Ala355=)
n.895C>A
c.121C>A
c.1749C>A (p.Ala583=)
c.1569C>A (p.Ala523=)
c.1329C>A (p.Ala443=)
c.948C>A (p.Ala316=)
c.-20+15703C>A (n.-20+15703C>A)
c.2880C>A (p.Ala960=)
c.2700C>A (p.Ala900=)
n.2963C>A
6g.157148910C=CA1675517072ARID1Bc.3048C= (p.Ala1016=)
c.2958C= (p.Ala986=)
c.1062C= (p.Ala354=)
c.3087C= (p.Ala1029=)
c.2799C= (p.Ala933=)
c.1206C= (p.Ala402=)
n.949C=
c.369C= (p.Ala123=)
c.3C= (p.Ala1=)
n.182C=
c.287C=
c.91C=
c.549C= (p.Ala183=)
c.2838C= (p.Ala946=)
n.1797C=
c.1065C= (p.Ala355=)
n.895C=
c.121C=
c.1749C= (p.Ala583=)
c.1569C= (p.Ala523=)
c.1329C= (p.Ala443=)
c.948C= (p.Ala316=)
c.-20+15703C= (n.-20+15703C=)
c.2880C= (p.Ala960=)
c.2700C= (p.Ala900=)
n.2963C=
6g.157148910C>GCA452990106ARID1Bc.3048C>G (p.Ala1016=)
c.2958C>G (p.Ala986=)
c.1062C>G (p.Ala354=)
c.3087C>G (p.Ala1029=)
c.2799C>G (p.Ala933=)
c.1206C>G (p.Ala402=)
n.949C>G
c.369C>G (p.Ala123=)
c.3C>G (p.Ala1=)
n.182C>G
c.287C>G
c.91C>G
c.549C>G (p.Ala183=)
c.2838C>G (p.Ala946=)
n.1797C>G
c.1065C>G (p.Ala355=)
n.895C>G
c.121C>G
c.1749C>G (p.Ala583=)
c.1569C>G (p.Ala523=)
c.1329C>G (p.Ala443=)
c.948C>G (p.Ala316=)
c.-20+15703C>G (n.-20+15703C>G)
c.2880C>G (p.Ala960=)
c.2700C>G (p.Ala900=)
n.2963C>G
gnomAD v4
6g.157148910C>TCA4067179ARID1Bc.3048C>T (p.Ala1016=)
c.2958C>T (p.Ala986=)
c.1062C>T (p.Ala354=)
c.3087C>T (p.Ala1029=)
c.2799C>T (p.Ala933=)
c.1206C>T (p.Ala402=)
n.949C>T
c.369C>T (p.Ala123=)
c.3C>T (p.Ala1=)
n.182C>T
c.287C>T
c.91C>T
c.549C>T (p.Ala183=)
c.2838C>T (p.Ala946=)
n.1797C>T
c.1065C>T (p.Ala355=)
n.895C>T
c.121C>T
c.1749C>T (p.Ala583=)
c.1569C>T (p.Ala523=)
c.1329C>T (p.Ala443=)
c.948C>T (p.Ala316=)
c.-20+15703C>T (n.-20+15703C>T)
c.2880C>T (p.Ala960=)
c.2700C>T (p.Ala900=)
n.2963C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.157148911G>ACA4067180ARID1Bc.3049G>A (p.Ala1017Thr)
c.2959G>A (p.Ala987Thr)
c.1063G>A (p.Ala355Thr)
c.3088G>A (p.Ala1030Thr)
c.2800G>A (p.Ala934Thr)
c.1207G>A (p.Ala403Thr)
n.950G>A
c.370G>A (p.Ala124Thr)
c.4G>A (p.Ala2Thr)
n.183G>A
c.288G>A
c.92G>A
c.550G>A (p.Ala184Thr)
c.2839G>A (p.Ala947Thr)
n.1798G>A
c.1066G>A (p.Ala356Thr)
c.1G>A (p.Ala1Thr)
n.896G>A
c.122G>A
c.1750G>A (p.Ala584Thr)
c.1570G>A (p.Ala524Thr)
c.1330G>A (p.Ala444Thr)
c.949G>A (p.Ala317Thr)
c.-20+15704G>A (n.-20+15704G>A)
c.2881G>A (p.Ala961Thr)
c.2701G>A (p.Ala901Thr)
n.2964G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.157148911G>CCA366389226ARID1Bc.3049G>C (p.Ala1017Pro)
c.2959G>C (p.Ala987Pro)
c.1063G>C (p.Ala355Pro)
c.3088G>C (p.Ala1030Pro)
c.2800G>C (p.Ala934Pro)
c.1207G>C (p.Ala403Pro)
n.950G>C
c.370G>C (p.Ala124Pro)
c.4G>C (p.Ala2Pro)
n.183G>C
c.288G>C
c.92G>C
c.550G>C (p.Ala184Pro)
c.2839G>C (p.Ala947Pro)
n.1798G>C
c.1066G>C (p.Ala356Pro)
c.1G>C (p.Ala1Pro)
n.896G>C
c.122G>C
c.1750G>C (p.Ala584Pro)
c.1570G>C (p.Ala524Pro)
c.1330G>C (p.Ala444Pro)
c.949G>C (p.Ala317Pro)
c.-20+15704G>C (n.-20+15704G>C)
c.2881G>C (p.Ala961Pro)
c.2701G>C (p.Ala901Pro)
n.2964G>C
6g.157148911G=CA1675517073ARID1Bc.3049G= (p.Ala1017=)
c.2959G= (p.Ala987=)
c.1063G= (p.Ala355=)
c.3088G= (p.Ala1030=)
c.2800G= (p.Ala934=)
c.1207G= (p.Ala403=)
n.950G=
c.370G= (p.Ala124=)
c.4G= (p.Ala2=)
n.183G=
c.288G=
c.92G=
c.550G= (p.Ala184=)
c.2839G= (p.Ala947=)
n.1798G=
c.1066G= (p.Ala356=)
c.1G= (p.Ala1=)
n.896G=
c.122G=
c.1750G= (p.Ala584=)
c.1570G= (p.Ala524=)
c.1330G= (p.Ala444=)
c.949G= (p.Ala317=)
c.-20+15704G= (n.-20+15704G=)
c.2881G= (p.Ala961=)
c.2701G= (p.Ala901=)
n.2964G=
6g.157148911G>TCA366389225ARID1Bc.3049G>T (p.Ala1017Ser)
c.2959G>T (p.Ala987Ser)
c.1063G>T (p.Ala355Ser)
c.3088G>T (p.Ala1030Ser)
c.2800G>T (p.Ala934Ser)
c.1207G>T (p.Ala403Ser)
n.950G>T
c.370G>T (p.Ala124Ser)
c.4G>T (p.Ala2Ser)
n.183G>T
c.288G>T
c.92G>T
c.550G>T (p.Ala184Ser)
c.2839G>T (p.Ala947Ser)
n.1798G>T
c.1066G>T (p.Ala356Ser)
c.1G>T (p.Ala1Ser)
n.896G>T
c.122G>T
c.1750G>T (p.Ala584Ser)
c.1570G>T (p.Ala524Ser)
c.1330G>T (p.Ala444Ser)
c.949G>T (p.Ala317Ser)
c.-20+15704G>T (n.-20+15704G>T)
c.2881G>T (p.Ala961Ser)
c.2701G>T (p.Ala901Ser)
n.2964G>T
gnomAD v4
6g.157148912C>ACA366389229ARID1Bc.3050C>A (p.Ala1017Glu)
c.2960C>A (p.Ala987Glu)
c.1064C>A (p.Ala355Glu)
c.3089C>A (p.Ala1030Glu)
c.2801C>A (p.Ala934Glu)
c.1208C>A (p.Ala403Glu)
n.951C>A
c.371C>A (p.Ala124Glu)
c.5C>A (p.Ala2Glu)
n.184C>A
c.289C>A
c.93C>A
c.551C>A (p.Ala184Glu)
c.2840C>A (p.Ala947Glu)
n.1799C>A
c.1067C>A (p.Ala356Glu)
c.2C>A (p.Ala1Glu)
n.897C>A
c.123C>A
c.1751C>A (p.Ala584Glu)
c.1571C>A (p.Ala524Glu)
c.1331C>A (p.Ala444Glu)
c.950C>A (p.Ala317Glu)
c.-20+15705C>A (n.-20+15705C>A)
c.2882C>A (p.Ala961Glu)
c.2702C>A (p.Ala901Glu)
n.2965C>A
6g.157148912C>GCA366389227ARID1Bc.3050C>G (p.Ala1017Gly)
c.2960C>G (p.Ala987Gly)
c.1064C>G (p.Ala355Gly)
c.3089C>G (p.Ala1030Gly)
c.2801C>G (p.Ala934Gly)
c.1208C>G (p.Ala403Gly)
n.951C>G
c.371C>G (p.Ala124Gly)
c.5C>G (p.Ala2Gly)
n.184C>G
c.289C>G
c.93C>G
c.551C>G (p.Ala184Gly)
c.2840C>G (p.Ala947Gly)
n.1799C>G
c.1067C>G (p.Ala356Gly)
c.2C>G (p.Ala1Gly)
n.897C>G
c.123C>G
c.1751C>G (p.Ala584Gly)
c.1571C>G (p.Ala524Gly)
c.1331C>G (p.Ala444Gly)
c.950C>G (p.Ala317Gly)
c.-20+15705C>G (n.-20+15705C>G)
c.2882C>G (p.Ala961Gly)
c.2702C>G (p.Ala901Gly)
n.2965C>G
6g.157148912C>TCA366389228ARID1Bc.3050C>T (p.Ala1017Val)
c.2960C>T (p.Ala987Val)
c.1064C>T (p.Ala355Val)
c.3089C>T (p.Ala1030Val)
c.2801C>T (p.Ala934Val)
c.1208C>T (p.Ala403Val)
n.951C>T
c.371C>T (p.Ala124Val)
c.5C>T (p.Ala2Val)
n.184C>T
c.289C>T
c.93C>T
c.551C>T (p.Ala184Val)
c.2840C>T (p.Ala947Val)
n.1799C>T
c.1067C>T (p.Ala356Val)
c.2C>T (p.Ala1Val)
n.897C>T
c.123C>T
c.1751C>T (p.Ala584Val)
c.1571C>T (p.Ala524Val)
c.1331C>T (p.Ala444Val)
c.950C>T (p.Ala317Val)
c.-20+15705C>T (n.-20+15705C>T)
c.2882C>T (p.Ala961Val)
c.2702C>T (p.Ala901Val)
n.2965C>T
COSMIC COSMIC
6g.157148913A=CA1675517074ARID1Bc.3051A= (p.Ala1017=)
c.2961A= (p.Ala987=)
c.1065A= (p.Ala355=)
c.3090A= (p.Ala1030=)
c.2802A= (p.Ala934=)
c.1209A= (p.Ala403=)
n.952A=
c.372A= (p.Ala124=)
c.6A= (p.Ala2=)
n.185A=
c.290A=
c.94A=
c.552A= (p.Ala184=)
c.2841A= (p.Ala947=)
n.1800A=
c.1068A= (p.Ala356=)
c.3A= (p.Ala1=)
n.898A=
c.124A=
c.1752A= (p.Ala584=)
c.1572A= (p.Ala524=)
c.1332A= (p.Ala444=)
c.951A= (p.Ala317=)
c.-20+15706A= (n.-20+15706A=)
c.2883A= (p.Ala961=)
c.2703A= (p.Ala901=)
n.2966A=
6g.157148913A>CCA452990108ARID1Bc.3051A>C (p.Ala1017=)
c.2961A>C (p.Ala987=)
c.1065A>C (p.Ala355=)
c.3090A>C (p.Ala1030=)
c.2802A>C (p.Ala934=)
c.1209A>C (p.Ala403=)
n.952A>C
c.372A>C (p.Ala124=)
c.6A>C (p.Ala2=)
n.185A>C
c.290A>C
c.94A>C
c.552A>C (p.Ala184=)
c.2841A>C (p.Ala947=)
n.1800A>C
c.1068A>C (p.Ala356=)
c.3A>C (p.Ala1=)
n.898A>C
c.124A>C
c.1752A>C (p.Ala584=)
c.1572A>C (p.Ala524=)
c.1332A>C (p.Ala444=)
c.951A>C (p.Ala317=)
c.-20+15706A>C (n.-20+15706A>C)
c.2883A>C (p.Ala961=)
c.2703A>C (p.Ala901=)
n.2966A>C
dbSNP
6g.157148913A>GCA452990109ARID1Bc.3051A>G (p.Ala1017=)
c.2961A>G (p.Ala987=)
c.1065A>G (p.Ala355=)
c.3090A>G (p.Ala1030=)
c.2802A>G (p.Ala934=)
c.1209A>G (p.Ala403=)
n.952A>G
c.372A>G (p.Ala124=)
c.6A>G (p.Ala2=)
n.185A>G
c.290A>G
c.94A>G
c.552A>G (p.Ala184=)
c.2841A>G (p.Ala947=)
n.1800A>G
c.1068A>G (p.Ala356=)
c.3A>G (p.Ala1=)
n.898A>G
c.124A>G
c.1752A>G (p.Ala584=)
c.1572A>G (p.Ala524=)
c.1332A>G (p.Ala444=)
c.951A>G (p.Ala317=)
c.-20+15706A>G (n.-20+15706A>G)
c.2883A>G (p.Ala961=)
c.2703A>G (p.Ala901=)
n.2966A>G
6g.157148913A>TCA452990110ARID1Bc.3051A>T (p.Ala1017=)
c.2961A>T (p.Ala987=)
c.1065A>T (p.Ala355=)
c.3090A>T (p.Ala1030=)
c.2802A>T (p.Ala934=)
c.1209A>T (p.Ala403=)
n.952A>T
c.372A>T (p.Ala124=)
c.6A>T (p.Ala2=)
n.185A>T
c.290A>T
c.94A>T
c.552A>T (p.Ala184=)
c.2841A>T (p.Ala947=)
n.1800A>T
c.1068A>T (p.Ala356=)
c.3A>T (p.Ala1=)
n.898A>T
c.124A>T
c.1752A>T (p.Ala584=)
c.1572A>T (p.Ala524=)
c.1332A>T (p.Ala444=)
c.951A>T (p.Ala317=)
c.-20+15706A>T (n.-20+15706A>T)
c.2883A>T (p.Ala961=)
c.2703A>T (p.Ala901=)
n.2966A>T
6g.157148914G>ACA366389230ARID1Bc.3052G>A (p.Ala1018Thr)
c.2962G>A (p.Ala988Thr)
c.1066G>A (p.Ala356Thr)
c.3091G>A (p.Ala1031Thr)
c.2803G>A (p.Ala935Thr)
c.1210G>A (p.Ala404Thr)
n.953G>A
c.373G>A (p.Ala125Thr)
c.7G>A (p.Ala3Thr)
n.186G>A
c.291G>A
c.95G>A
c.553G>A (p.Ala185Thr)
c.2842G>A (p.Ala948Thr)
n.1801G>A
c.1069G>A (p.Ala357Thr)
c.4G>A (p.Ala2Thr)
n.899G>A
c.125G>A
c.1753G>A (p.Ala585Thr)
c.1573G>A (p.Ala525Thr)
c.1333G>A (p.Ala445Thr)
c.952G>A (p.Ala318Thr)
c.-20+15707G>A (n.-20+15707G>A)
c.2884G>A (p.Ala962Thr)
c.2704G>A (p.Ala902Thr)
n.2967G>A
dbSNP gnomAD v4
6g.157148914G>CCA366389231ARID1Bc.3052G>C (p.Ala1018Pro)
c.2962G>C (p.Ala988Pro)
c.1066G>C (p.Ala356Pro)
c.3091G>C (p.Ala1031Pro)
c.2803G>C (p.Ala935Pro)
c.1210G>C (p.Ala404Pro)
n.953G>C
c.373G>C (p.Ala125Pro)
c.7G>C (p.Ala3Pro)
n.186G>C
c.291G>C
c.95G>C
c.553G>C (p.Ala185Pro)
c.2842G>C (p.Ala948Pro)
n.1801G>C
c.1069G>C (p.Ala357Pro)
c.4G>C (p.Ala2Pro)
n.899G>C
c.125G>C
c.1753G>C (p.Ala585Pro)
c.1573G>C (p.Ala525Pro)
c.1333G>C (p.Ala445Pro)
c.952G>C (p.Ala318Pro)
c.-20+15707G>C (n.-20+15707G>C)
c.2884G>C (p.Ala962Pro)
c.2704G>C (p.Ala902Pro)
n.2967G>C
6g.157148914G>TCA366389232ARID1Bc.3052G>T (p.Ala1018Ser)
c.2962G>T (p.Ala988Ser)
c.1066G>T (p.Ala356Ser)
c.3091G>T (p.Ala1031Ser)
c.2803G>T (p.Ala935Ser)
c.1210G>T (p.Ala404Ser)
n.953G>T
c.373G>T (p.Ala125Ser)
c.7G>T (p.Ala3Ser)
n.186G>T
c.291G>T
c.95G>T
c.553G>T (p.Ala185Ser)
c.2842G>T (p.Ala948Ser)
n.1801G>T
c.1069G>T (p.Ala357Ser)
c.4G>T (p.Ala2Ser)
n.899G>T
c.125G>T
c.1753G>T (p.Ala585Ser)
c.1573G>T (p.Ala525Ser)
c.1333G>T (p.Ala445Ser)
c.952G>T (p.Ala318Ser)
c.-20+15707G>T (n.-20+15707G>T)
c.2884G>T (p.Ala962Ser)
c.2704G>T (p.Ala902Ser)
n.2967G>T
6g.157148918_157148925delCA658789861ARID1Bc.3056_3063del (p.Val1019GlyfsTer?)
c.2966_2973del (p.Val989GlyfsTer?)
c.3056_3063del (p.Val1019GlyfsTer14)
c.1070_1077del (p.Val357GlyfsTer?)
c.3095_3102del (p.Val1032GlyfsTer?)
c.2807_2814del (p.Val936GlyfsTer?)
c.1214_1221del (p.Val405GlyfsTer?)
n.957_964del
c.377_384del (p.Val126GlyfsTer?)
c.11_18del (p.Val4GlyfsTer?)
n.190_197del
c.295_302del
c.99_106del
c.557_564del (p.Val186GlyfsTer?)
c.2846_2853del (p.Val949GlyfsTer?)
n.1805_1812del
c.1073_1080del (p.Val358GlyfsTer?)
c.8_15del (p.Val3GlyfsTer?)
n.903_910del
c.129_136del
c.1757_1764del (p.Val586GlyfsTer14)
c.1577_1584del (p.Val526GlyfsTer14)
c.1337_1344del (p.Val446GlyfsTer14)
c.956_963del (p.Val319GlyfsTer14)
c.-20+15711_-20+15718del (n.-20+15711_-20+15718del)
c.2888_2895del (p.Val963GlyfsTer14)
c.2888_2895del (p.Val963GlyfsTer?)
c.2708_2715del (p.Val903GlyfsTer?)
n.2971_2978del
6g.157148915C>ACA366389235ARID1Bc.3053C>A (p.Ala1018Glu)
c.2963C>A (p.Ala988Glu)
c.1067C>A (p.Ala356Glu)
c.3092C>A (p.Ala1031Glu)
c.2804C>A (p.Ala935Glu)
c.1211C>A (p.Ala404Glu)
n.954C>A
c.374C>A (p.Ala125Glu)
c.8C>A (p.Ala3Glu)
n.187C>A
c.292C>A
c.96C>A
c.554C>A (p.Ala185Glu)
c.2843C>A (p.Ala948Glu)
n.1802C>A
c.1070C>A (p.Ala357Glu)
c.5C>A (p.Ala2Glu)
n.900C>A
c.126C>A
c.1754C>A (p.Ala585Glu)
c.1574C>A (p.Ala525Glu)
c.1334C>A (p.Ala445Glu)
c.953C>A (p.Ala318Glu)
c.-20+15708C>A (n.-20+15708C>A)
c.2885C>A (p.Ala962Glu)
c.2705C>A (p.Ala902Glu)
n.2968C>A
6g.157148915C>GCA366389234ARID1Bc.3053C>G (p.Ala1018Gly)
c.2963C>G (p.Ala988Gly)
c.1067C>G (p.Ala356Gly)
c.3092C>G (p.Ala1031Gly)
c.2804C>G (p.Ala935Gly)
c.1211C>G (p.Ala404Gly)
n.954C>G
c.374C>G (p.Ala125Gly)
c.8C>G (p.Ala3Gly)
n.187C>G
c.292C>G
c.96C>G
c.554C>G (p.Ala185Gly)
c.2843C>G (p.Ala948Gly)
n.1802C>G
c.1070C>G (p.Ala357Gly)
c.5C>G (p.Ala2Gly)
n.900C>G
c.126C>G
c.1754C>G (p.Ala585Gly)
c.1574C>G (p.Ala525Gly)
c.1334C>G (p.Ala445Gly)
c.953C>G (p.Ala318Gly)
c.-20+15708C>G (n.-20+15708C>G)
c.2885C>G (p.Ala962Gly)
c.2705C>G (p.Ala902Gly)
n.2968C>G
6g.157148915C>TCA366389233ARID1Bc.3053C>T (p.Ala1018Val)
c.2963C>T (p.Ala988Val)
c.1067C>T (p.Ala356Val)
c.3092C>T (p.Ala1031Val)
c.2804C>T (p.Ala935Val)
c.1211C>T (p.Ala404Val)
n.954C>T
c.374C>T (p.Ala125Val)
c.8C>T (p.Ala3Val)
n.187C>T
c.292C>T
c.96C>T
c.554C>T (p.Ala185Val)
c.2843C>T (p.Ala948Val)
n.1802C>T
c.1070C>T (p.Ala357Val)
c.5C>T (p.Ala2Val)
n.900C>T
c.126C>T
c.1754C>T (p.Ala585Val)
c.1574C>T (p.Ala525Val)
c.1334C>T (p.Ala445Val)
c.953C>T (p.Ala318Val)
c.-20+15708C>T (n.-20+15708C>T)
c.2885C>T (p.Ala962Val)
c.2705C>T (p.Ala902Val)
n.2968C>T
dbSNP
6g.157148915dupCA2825001473ARID1Bc.3053dup (p.Val1019SerfsTer?)
c.2963dup (p.Val989SerfsTer?)
c.3053dup (p.Val1019SerfsTer17)
c.1067dup (p.Val357SerfsTer?)
c.3092dup (p.Val1032SerfsTer?)
c.2804dup (p.Val936SerfsTer?)
c.1211dup (p.Val405SerfsTer?)
n.954dup
c.374dup (p.Val126SerfsTer?)
c.8dup (p.Val4SerfsTer?)
n.187dup
c.292dup
c.96dup
c.554dup (p.Val186SerfsTer?)
c.2843dup (p.Val949SerfsTer?)
n.1802dup
c.1070dup (p.Val358SerfsTer?)
c.5dup (p.Val3SerfsTer?)
n.900dup
c.126dup
c.1754dup (p.Val586SerfsTer17)
c.1574dup (p.Val526SerfsTer17)
c.1334dup (p.Val446SerfsTer17)
c.953dup (p.Val319SerfsTer17)
c.-20+15708dup (n.-20+15708dup)
c.2885dup (p.Val963SerfsTer17)
c.2885dup (p.Val963SerfsTer?)
c.2705dup (p.Val903SerfsTer?)
n.2968dup
ClinVar
6g.157148916A>CCA452990112ARID1Bc.3054A>C (p.Ala1018=)
c.2964A>C (p.Ala988=)
c.1068A>C (p.Ala356=)
c.3093A>C (p.Ala1031=)
c.2805A>C (p.Ala935=)
c.1212A>C (p.Ala404=)
n.955A>C
c.375A>C (p.Ala125=)
c.9A>C (p.Ala3=)
n.188A>C
c.293A>C
c.97A>C
c.555A>C (p.Ala185=)
c.2844A>C (p.Ala948=)
n.1803A>C
c.1071A>C (p.Ala357=)
c.6A>C (p.Ala2=)
n.901A>C
c.127A>C
c.1755A>C (p.Ala585=)
c.1575A>C (p.Ala525=)
c.1335A>C (p.Ala445=)
c.954A>C (p.Ala318=)
c.-20+15709A>C (n.-20+15709A>C)
c.2886A>C (p.Ala962=)
c.2706A>C (p.Ala902=)
n.2969A>C
gnomAD v4
6g.157148916A>GCA452990114ARID1Bc.3054A>G (p.Ala1018=)
c.2964A>G (p.Ala988=)
c.1068A>G (p.Ala356=)
c.3093A>G (p.Ala1031=)
c.2805A>G (p.Ala935=)
c.1212A>G (p.Ala404=)
n.955A>G
c.375A>G (p.Ala125=)
c.9A>G (p.Ala3=)
n.188A>G
c.293A>G
c.97A>G
c.555A>G (p.Ala185=)
c.2844A>G (p.Ala948=)
n.1803A>G
c.1071A>G (p.Ala357=)
c.6A>G (p.Ala2=)
n.901A>G
c.127A>G
c.1755A>G (p.Ala585=)
c.1575A>G (p.Ala525=)
c.1335A>G (p.Ala445=)
c.954A>G (p.Ala318=)
c.-20+15709A>G (n.-20+15709A>G)
c.2886A>G (p.Ala962=)
c.2706A>G (p.Ala902=)
n.2969A>G
gnomAD v4
6g.157148916A>TCA452990113ARID1Bc.3054A>T (p.Ala1018=)
c.2964A>T (p.Ala988=)
c.1068A>T (p.Ala356=)
c.3093A>T (p.Ala1031=)
c.2805A>T (p.Ala935=)
c.1212A>T (p.Ala404=)
n.955A>T
c.375A>T (p.Ala125=)
c.9A>T (p.Ala3=)
n.188A>T
c.293A>T
c.97A>T
c.555A>T (p.Ala185=)
c.2844A>T (p.Ala948=)
n.1803A>T
c.1071A>T (p.Ala357=)
c.6A>T (p.Ala2=)
n.901A>T
c.127A>T
c.1755A>T (p.Ala585=)
c.1575A>T (p.Ala525=)
c.1335A>T (p.Ala445=)
c.954A>T (p.Ala318=)
c.-20+15709A>T (n.-20+15709A>T)
c.2886A>T (p.Ala962=)
c.2706A>T (p.Ala902=)
n.2969A>T
6g.157148917G>ACA366389236ARID1Bc.3055G>A (p.Val1019Met)
c.2965G>A (p.Val989Met)
c.1069G>A (p.Val357Met)
c.3094G>A (p.Val1032Met)
c.2806G>A (p.Val936Met)
c.1213G>A (p.Val405Met)
n.956G>A
c.376G>A (p.Val126Met)
c.10G>A (p.Val4Met)
n.189G>A
c.294G>A
c.98G>A
c.556G>A (p.Val186Met)
c.2845G>A (p.Val949Met)
n.1804G>A
c.1072G>A (p.Val358Met)
c.7G>A (p.Val3Met)
n.902G>A
c.128G>A
c.1756G>A (p.Val586Met)
c.1576G>A (p.Val526Met)
c.1336G>A (p.Val446Met)
c.955G>A (p.Val319Met)
c.-20+15710G>A (n.-20+15710G>A)
c.2887G>A (p.Val963Met)
c.2707G>A (p.Val903Met)
n.2970G>A
gnomAD v4
6g.157148917G>CCA366389237ARID1Bc.3055G>C (p.Val1019Leu)
c.2965G>C (p.Val989Leu)
c.1069G>C (p.Val357Leu)
c.3094G>C (p.Val1032Leu)
c.2806G>C (p.Val936Leu)
c.1213G>C (p.Val405Leu)
n.956G>C
c.376G>C (p.Val126Leu)
c.10G>C (p.Val4Leu)
n.189G>C
c.294G>C
c.98G>C
c.556G>C (p.Val186Leu)
c.2845G>C (p.Val949Leu)
n.1804G>C
c.1072G>C (p.Val358Leu)
c.7G>C (p.Val3Leu)
n.902G>C
c.128G>C
c.1756G>C (p.Val586Leu)
c.1576G>C (p.Val526Leu)
c.1336G>C (p.Val446Leu)
c.955G>C (p.Val319Leu)
c.-20+15710G>C (n.-20+15710G>C)
c.2887G>C (p.Val963Leu)
c.2707G>C (p.Val903Leu)
n.2970G>C
gnomAD v4
6g.157148917G>TCA366389238ARID1Bc.3055G>T (p.Val1019Leu)
c.2965G>T (p.Val989Leu)
c.1069G>T (p.Val357Leu)
c.3094G>T (p.Val1032Leu)
c.2806G>T (p.Val936Leu)
c.1213G>T (p.Val405Leu)
n.956G>T
c.376G>T (p.Val126Leu)
c.10G>T (p.Val4Leu)
n.189G>T
c.294G>T
c.98G>T
c.556G>T (p.Val186Leu)
c.2845G>T (p.Val949Leu)
n.1804G>T
c.1072G>T (p.Val358Leu)
c.7G>T (p.Val3Leu)
n.902G>T
c.128G>T
c.1756G>T (p.Val586Leu)
c.1576G>T (p.Val526Leu)
c.1336G>T (p.Val446Leu)
c.955G>T (p.Val319Leu)
c.-20+15710G>T (n.-20+15710G>T)
c.2887G>T (p.Val963Leu)
c.2707G>T (p.Val903Leu)
n.2970G>T
6g.157148918T>ACA366389239ARID1Bc.3056T>A (p.Val1019Glu)
c.2966T>A (p.Val989Glu)
c.1070T>A (p.Val357Glu)
c.3095T>A (p.Val1032Glu)
c.2807T>A (p.Val936Glu)
c.1214T>A (p.Val405Glu)
n.957T>A
c.377T>A (p.Val126Glu)
c.11T>A (p.Val4Glu)
n.190T>A
c.295T>A
c.99T>A
c.557T>A (p.Val186Glu)
c.2846T>A (p.Val949Glu)
n.1805T>A
c.1073T>A (p.Val358Glu)
c.8T>A (p.Val3Glu)
n.903T>A
c.129T>A
c.1757T>A (p.Val586Glu)
c.1577T>A (p.Val526Glu)
c.1337T>A (p.Val446Glu)
c.956T>A (p.Val319Glu)
c.-20+15711T>A (n.-20+15711T>A)
c.2888T>A (p.Val963Glu)
c.2708T>A (p.Val903Glu)
n.2971T>A
6g.157148918T>CCA366389240ARID1Bc.3056T>C (p.Val1019Ala)
c.2966T>C (p.Val989Ala)
c.1070T>C (p.Val357Ala)
c.3095T>C (p.Val1032Ala)
c.2807T>C (p.Val936Ala)
c.1214T>C (p.Val405Ala)
n.957T>C
c.377T>C (p.Val126Ala)
c.11T>C (p.Val4Ala)
n.190T>C
c.295T>C
c.99T>C
c.557T>C (p.Val186Ala)
c.2846T>C (p.Val949Ala)
n.1805T>C
c.1073T>C (p.Val358Ala)
c.8T>C (p.Val3Ala)
n.903T>C
c.129T>C
c.1757T>C (p.Val586Ala)
c.1577T>C (p.Val526Ala)
c.1337T>C (p.Val446Ala)
c.956T>C (p.Val319Ala)
c.-20+15711T>C (n.-20+15711T>C)
c.2888T>C (p.Val963Ala)
c.2708T>C (p.Val903Ala)
n.2971T>C
6g.157148918T>GCA366389241ARID1Bc.3056T>G (p.Val1019Gly)
c.2966T>G (p.Val989Gly)
c.1070T>G (p.Val357Gly)
c.3095T>G (p.Val1032Gly)
c.2807T>G (p.Val936Gly)
c.1214T>G (p.Val405Gly)
n.957T>G
c.377T>G (p.Val126Gly)
c.11T>G (p.Val4Gly)
n.190T>G
c.295T>G
c.99T>G
c.557T>G (p.Val186Gly)
c.2846T>G (p.Val949Gly)
n.1805T>G
c.1073T>G (p.Val358Gly)
c.8T>G (p.Val3Gly)
n.903T>G
c.129T>G
c.1757T>G (p.Val586Gly)
c.1577T>G (p.Val526Gly)
c.1337T>G (p.Val446Gly)
c.956T>G (p.Val319Gly)
c.-20+15711T>G (n.-20+15711T>G)
c.2888T>G (p.Val963Gly)
c.2708T>G (p.Val903Gly)
n.2971T>G
dbSNP
6g.157148918T=CA1675517075ARID1Bc.3056T= (p.Val1019=)
c.2966T= (p.Val989=)
c.1070T= (p.Val357=)
c.3095T= (p.Val1032=)
c.2807T= (p.Val936=)
c.1214T= (p.Val405=)
n.957T=
c.377T= (p.Val126=)
c.11T= (p.Val4=)
n.190T=
c.295T=
c.99T=
c.557T= (p.Val186=)
c.2846T= (p.Val949=)
n.1805T=
c.1073T= (p.Val358=)
c.8T= (p.Val3=)
n.903T=
c.129T=
c.1757T= (p.Val586=)
c.1577T= (p.Val526=)
c.1337T= (p.Val446=)
c.956T= (p.Val319=)
c.-20+15711T= (n.-20+15711T=)
c.2888T= (p.Val963=)
c.2708T= (p.Val903=)
n.2971T=
6g.157148919G>ACA452990117ARID1Bc.3057G>A (p.Val1019=)
c.2967G>A (p.Val989=)
c.1071G>A (p.Val357=)
c.3096G>A (p.Val1032=)
c.2808G>A (p.Val936=)
c.1215G>A (p.Val405=)
n.958G>A
c.378G>A (p.Val126=)
c.12G>A (p.Val4=)
n.191G>A
c.296G>A
c.100G>A
c.558G>A (p.Val186=)
c.2847G>A (p.Val949=)
n.1806G>A
c.1074G>A (p.Val358=)
c.9G>A (p.Val3=)
n.904G>A
c.130G>A
c.1758G>A (p.Val586=)
c.1578G>A (p.Val526=)
c.1338G>A (p.Val446=)
c.957G>A (p.Val319=)
c.-20+15712G>A (n.-20+15712G>A)
c.2889G>A (p.Val963=)
c.2709G>A (p.Val903=)
n.2972G>A
gnomAD v4
6g.157148919G>CCA452990116ARID1Bc.3057G>C (p.Val1019=)
c.2967G>C (p.Val989=)
c.1071G>C (p.Val357=)
c.3096G>C (p.Val1032=)
c.2808G>C (p.Val936=)
c.1215G>C (p.Val405=)
n.958G>C
c.378G>C (p.Val126=)
c.12G>C (p.Val4=)
n.191G>C
c.296G>C
c.100G>C
c.558G>C (p.Val186=)
c.2847G>C (p.Val949=)
n.1806G>C
c.1074G>C (p.Val358=)
c.9G>C (p.Val3=)
n.904G>C
c.130G>C
c.1758G>C (p.Val586=)
c.1578G>C (p.Val526=)
c.1338G>C (p.Val446=)
c.957G>C (p.Val319=)
c.-20+15712G>C (n.-20+15712G>C)
c.2889G>C (p.Val963=)
c.2709G>C (p.Val903=)
n.2972G>C
6g.157148919G>TCA452990115ARID1Bc.3057G>T (p.Val1019=)
c.2967G>T (p.Val989=)
c.1071G>T (p.Val357=)
c.3096G>T (p.Val1032=)
c.2808G>T (p.Val936=)
c.1215G>T (p.Val405=)
n.958G>T
c.378G>T (p.Val126=)
c.12G>T (p.Val4=)
n.191G>T
c.296G>T
c.100G>T
c.558G>T (p.Val186=)
c.2847G>T (p.Val949=)
n.1806G>T
c.1074G>T (p.Val358=)
c.9G>T (p.Val3=)
n.904G>T
c.130G>T
c.1758G>T (p.Val586=)
c.1578G>T (p.Val526=)
c.1338G>T (p.Val446=)
c.957G>T (p.Val319=)
c.-20+15712G>T (n.-20+15712G>T)
c.2889G>T (p.Val963=)
c.2709G>T (p.Val903=)
n.2972G>T
6g.157148920A=CA1675517076ARID1Bc.3058A= (p.Met1020=)
c.2968A= (p.Met990=)
c.1072A= (p.Met358=)
c.3097A= (p.Met1033=)
c.2809A= (p.Met937=)
c.1216A= (p.Met406=)
n.959A=
c.379A= (p.Met127=)
c.13A= (p.Met5=)
n.192A=
c.297A=
c.101A=
c.559A= (p.Met187=)
c.2848A= (p.Met950=)
n.1807A=
c.1075A= (p.Met359=)
c.10A= (p.Met4=)
n.905A=
c.131A=
c.1759A= (p.Met587=)
c.1579A= (p.Met527=)
c.1339A= (p.Met447=)
c.958A= (p.Met320=)
c.-20+15713A= (n.-20+15713A=)
c.2890A= (p.Met964=)
c.2710A= (p.Met904=)
n.2973A=
6g.157148920A>CCA366389242ARID1Bc.3058A>C (p.Met1020Leu)
c.2968A>C (p.Met990Leu)
c.1072A>C (p.Met358Leu)
c.3097A>C (p.Met1033Leu)
c.2809A>C (p.Met937Leu)
c.1216A>C (p.Met406Leu)
n.959A>C
c.379A>C (p.Met127Leu)
c.13A>C (p.Met5Leu)
n.192A>C
c.297A>C
c.101A>C
c.559A>C (p.Met187Leu)
c.2848A>C (p.Met950Leu)
n.1807A>C
c.1075A>C (p.Met359Leu)
c.10A>C (p.Met4Leu)
n.905A>C
c.131A>C
c.1759A>C (p.Met587Leu)
c.1579A>C (p.Met527Leu)
c.1339A>C (p.Met447Leu)
c.958A>C (p.Met320Leu)
c.-20+15713A>C (n.-20+15713A>C)
c.2890A>C (p.Met964Leu)
c.2710A>C (p.Met904Leu)
n.2973A>C
6g.157148920A>GCA366389244ARID1Bc.3058A>G (p.Met1020Val)
c.2968A>G (p.Met990Val)
c.1072A>G (p.Met358Val)
c.3097A>G (p.Met1033Val)
c.2809A>G (p.Met937Val)
c.1216A>G (p.Met406Val)
n.959A>G
c.379A>G (p.Met127Val)
c.13A>G (p.Met5Val)
n.192A>G
c.297A>G
c.101A>G
c.559A>G (p.Met187Val)
c.2848A>G (p.Met950Val)
n.1807A>G
c.1075A>G (p.Met359Val)
c.10A>G (p.Met4Val)
n.905A>G
c.131A>G
c.1759A>G (p.Met587Val)
c.1579A>G (p.Met527Val)
c.1339A>G (p.Met447Val)
c.958A>G (p.Met320Val)
c.-20+15713A>G (n.-20+15713A>G)
c.2890A>G (p.Met964Val)
c.2710A>G (p.Met904Val)
n.2973A>G
dbSNP gnomAD v2 gnomAD v4
6g.157148920A>TCA366389243ARID1Bc.3058A>T (p.Met1020Leu)
c.2968A>T (p.Met990Leu)
c.1072A>T (p.Met358Leu)
c.3097A>T (p.Met1033Leu)
c.2809A>T (p.Met937Leu)
c.1216A>T (p.Met406Leu)
n.959A>T
c.379A>T (p.Met127Leu)
c.13A>T (p.Met5Leu)
n.192A>T
c.297A>T
c.101A>T
c.559A>T (p.Met187Leu)
c.2848A>T (p.Met950Leu)
n.1807A>T
c.1075A>T (p.Met359Leu)
c.10A>T (p.Met4Leu)
n.905A>T
c.131A>T
c.1759A>T (p.Met587Leu)
c.1579A>T (p.Met527Leu)
c.1339A>T (p.Met447Leu)
c.958A>T (p.Met320Leu)
c.-20+15713A>T (n.-20+15713A>T)
c.2890A>T (p.Met964Leu)
c.2710A>T (p.Met904Leu)
n.2973A>T
gnomAD v4
6g.157148921T>ACA366389245ARID1Bc.3059T>A (p.Met1020Lys)
c.2969T>A (p.Met990Lys)
c.1073T>A (p.Met358Lys)
c.3098T>A (p.Met1033Lys)
c.2810T>A (p.Met937Lys)
c.1217T>A (p.Met406Lys)
n.960T>A
c.380T>A (p.Met127Lys)
c.14T>A (p.Met5Lys)
n.193T>A
c.298T>A
c.102T>A
c.560T>A (p.Met187Lys)
c.2849T>A (p.Met950Lys)
n.1808T>A
c.1076T>A (p.Met359Lys)
c.11T>A (p.Met4Lys)
n.906T>A
c.132T>A
c.1760T>A (p.Met587Lys)
c.1580T>A (p.Met527Lys)
c.1340T>A (p.Met447Lys)
c.959T>A (p.Met320Lys)
c.-20+15714T>A (n.-20+15714T>A)
c.2891T>A (p.Met964Lys)
c.2711T>A (p.Met904Lys)
n.2974T>A
6g.157148921T>CCA366389246ARID1Bc.3059T>C (p.Met1020Thr)
c.2969T>C (p.Met990Thr)
c.1073T>C (p.Met358Thr)
c.3098T>C (p.Met1033Thr)
c.2810T>C (p.Met937Thr)
c.1217T>C (p.Met406Thr)
n.960T>C
c.380T>C (p.Met127Thr)
c.14T>C (p.Met5Thr)
n.193T>C
c.298T>C
c.102T>C
c.560T>C (p.Met187Thr)
c.2849T>C (p.Met950Thr)
n.1808T>C
c.1076T>C (p.Met359Thr)
c.11T>C (p.Met4Thr)
n.906T>C
c.132T>C
c.1760T>C (p.Met587Thr)
c.1580T>C (p.Met527Thr)
c.1340T>C (p.Met447Thr)
c.959T>C (p.Met320Thr)
c.-20+15714T>C (n.-20+15714T>C)
c.2891T>C (p.Met964Thr)
c.2711T>C (p.Met904Thr)
n.2974T>C
6g.157148921T>GCA366389247ARID1Bc.3059T>G (p.Met1020Arg)
c.2969T>G (p.Met990Arg)
c.1073T>G (p.Met358Arg)
c.3098T>G (p.Met1033Arg)
c.2810T>G (p.Met937Arg)
c.1217T>G (p.Met406Arg)
n.960T>G
c.380T>G (p.Met127Arg)
c.14T>G (p.Met5Arg)
n.193T>G
c.298T>G
c.102T>G
c.560T>G (p.Met187Arg)
c.2849T>G (p.Met950Arg)
n.1808T>G
c.1076T>G (p.Met359Arg)
c.11T>G (p.Met4Arg)
n.906T>G
c.132T>G
c.1760T>G (p.Met587Arg)
c.1580T>G (p.Met527Arg)
c.1340T>G (p.Met447Arg)
c.959T>G (p.Met320Arg)
c.-20+15714T>G (n.-20+15714T>G)
c.2891T>G (p.Met964Arg)
c.2711T>G (p.Met904Arg)
n.2974T>G
6g.157148922G>ACA366389248ARID1Bc.3060G>A (p.Met1020Ile)
c.2970G>A (p.Met990Ile)
c.1074G>A (p.Met358Ile)
c.3099G>A (p.Met1033Ile)
c.2811G>A (p.Met937Ile)
c.1218G>A (p.Met406Ile)
n.961G>A
c.381G>A (p.Met127Ile)
c.15G>A (p.Met5Ile)
n.194G>A
c.299G>A
c.103G>A
c.561G>A (p.Met187Ile)
c.2850G>A (p.Met950Ile)
n.1809G>A
c.1077G>A (p.Met359Ile)
c.12G>A (p.Met4Ile)
n.907G>A
c.133G>A
c.1761G>A (p.Met587Ile)
c.1581G>A (p.Met527Ile)
c.1341G>A (p.Met447Ile)
c.960G>A (p.Met320Ile)
c.-20+15715G>A (n.-20+15715G>A)
c.2892G>A (p.Met964Ile)
c.2712G>A (p.Met904Ile)
n.2975G>A
gnomAD v4
6g.157148922G>CCA366389249ARID1Bc.3060G>C (p.Met1020Ile)
c.2970G>C (p.Met990Ile)
c.1074G>C (p.Met358Ile)
c.3099G>C (p.Met1033Ile)
c.2811G>C (p.Met937Ile)
c.1218G>C (p.Met406Ile)
n.961G>C
c.381G>C (p.Met127Ile)
c.15G>C (p.Met5Ile)
n.194G>C
c.299G>C
c.103G>C
c.561G>C (p.Met187Ile)
c.2850G>C (p.Met950Ile)
n.1809G>C
c.1077G>C (p.Met359Ile)
c.12G>C (p.Met4Ile)
n.907G>C
c.133G>C
c.1761G>C (p.Met587Ile)
c.1581G>C (p.Met527Ile)
c.1341G>C (p.Met447Ile)
c.960G>C (p.Met320Ile)
c.-20+15715G>C (n.-20+15715G>C)
c.2892G>C (p.Met964Ile)
c.2712G>C (p.Met904Ile)
n.2975G>C
6g.157148922G>TCA366389250ARID1Bc.3060G>T (p.Met1020Ile)
c.2970G>T (p.Met990Ile)
c.1074G>T (p.Met358Ile)
c.3099G>T (p.Met1033Ile)
c.2811G>T (p.Met937Ile)
c.1218G>T (p.Met406Ile)
n.961G>T
c.381G>T (p.Met127Ile)
c.15G>T (p.Met5Ile)
n.194G>T
c.299G>T
c.103G>T
c.561G>T (p.Met187Ile)
c.2850G>T (p.Met950Ile)
n.1809G>T
c.1077G>T (p.Met359Ile)
c.12G>T (p.Met4Ile)
n.907G>T
c.133G>T
c.1761G>T (p.Met587Ile)
c.1581G>T (p.Met527Ile)
c.1341G>T (p.Met447Ile)
c.960G>T (p.Met320Ile)
c.-20+15715G>T (n.-20+15715G>T)
c.2892G>T (p.Met964Ile)
c.2712G>T (p.Met904Ile)
n.2975G>T
gnomAD v4
6g.157148923C>ACA366389251ARID1Bc.3061C>A (p.Gln1021Lys)
c.2971C>A (p.Gln991Lys)
c.1075C>A (p.Gln359Lys)
c.3100C>A (p.Gln1034Lys)
c.2812C>A (p.Gln938Lys)
c.1219C>A (p.Gln407Lys)
n.962C>A
c.382C>A (p.Gln128Lys)
c.16C>A (p.Gln6Lys)
n.195C>A
c.300C>A
c.104C>A
c.562C>A (p.Gln188Lys)
c.2851C>A (p.Gln951Lys)
n.1810C>A
c.1078C>A (p.Gln360Lys)
c.13C>A (p.Gln5Lys)
n.908C>A
c.134C>A
c.1762C>A (p.Gln588Lys)
c.1582C>A (p.Gln528Lys)
c.1342C>A (p.Gln448Lys)
c.961C>A (p.Gln321Lys)
c.-20+15716C>A (n.-20+15716C>A)
c.2893C>A (p.Gln965Lys)
c.2713C>A (p.Gln905Lys)
n.2976C>A
6g.157148923C=CA1675517077ARID1Bc.3061C= (p.Gln1021=)
c.2971C= (p.Gln991=)
c.1075C= (p.Gln359=)
c.3100C= (p.Gln1034=)
c.2812C= (p.Gln938=)
c.1219C= (p.Gln407=)
n.962C=
c.382C= (p.Gln128=)
c.16C= (p.Gln6=)
n.195C=
c.300C=
c.104C=
c.562C= (p.Gln188=)
c.2851C= (p.Gln951=)
n.1810C=
c.1078C= (p.Gln360=)
c.13C= (p.Gln5=)
n.908C=
c.134C=
c.1762C= (p.Gln588=)
c.1582C= (p.Gln528=)
c.1342C= (p.Gln448=)
c.961C= (p.Gln321=)
c.-20+15716C= (n.-20+15716C=)
c.2893C= (p.Gln965=)
c.2713C= (p.Gln905=)
n.2976C=
6g.157148923C>GCA366389252ARID1Bc.3061C>G (p.Gln1021Glu)
c.2971C>G (p.Gln991Glu)
c.1075C>G (p.Gln359Glu)
c.3100C>G (p.Gln1034Glu)
c.2812C>G (p.Gln938Glu)
c.1219C>G (p.Gln407Glu)
n.962C>G
c.382C>G (p.Gln128Glu)
c.16C>G (p.Gln6Glu)
n.195C>G
c.300C>G
c.104C>G
c.562C>G (p.Gln188Glu)
c.2851C>G (p.Gln951Glu)
n.1810C>G
c.1078C>G (p.Gln360Glu)
c.13C>G (p.Gln5Glu)
n.908C>G
c.134C>G
c.1762C>G (p.Gln588Glu)
c.1582C>G (p.Gln528Glu)
c.1342C>G (p.Gln448Glu)
c.961C>G (p.Gln321Glu)
c.-20+15716C>G (n.-20+15716C>G)
c.2893C>G (p.Gln965Glu)
c.2713C>G (p.Gln905Glu)
n.2976C>G
gnomAD v4
6g.157148923C>TCA366389253ARID1Bc.3061C>T (p.Gln1021Ter)
c.2971C>T (p.Gln991Ter)
c.1075C>T (p.Gln359Ter)
c.3100C>T (p.Gln1034Ter)
c.2812C>T (p.Gln938Ter)
c.1219C>T (p.Gln407Ter)
n.962C>T
c.382C>T (p.Gln128Ter)
c.16C>T (p.Gln6Ter)
n.195C>T
c.300C>T
c.104C>T
c.562C>T (p.Gln188Ter)
c.2851C>T (p.Gln951Ter)
n.1810C>T
c.1078C>T (p.Gln360Ter)
c.13C>T (p.Gln5Ter)
n.908C>T
c.134C>T
c.1762C>T (p.Gln588Ter)
c.1582C>T (p.Gln528Ter)
c.1342C>T (p.Gln448Ter)
c.961C>T (p.Gln321Ter)
c.-20+15716C>T (n.-20+15716C>T)
c.2893C>T (p.Gln965Ter)
c.2713C>T (p.Gln905Ter)
n.2976C>T
ClinVar dbSNP
6g.157148924A=CA1675517078ARID1Bc.3062A= (p.Gln1021=)
c.2972A= (p.Gln991=)
c.1076A= (p.Gln359=)
c.3101A= (p.Gln1034=)
c.2813A= (p.Gln938=)
c.1220A= (p.Gln407=)
n.963A=
c.383A= (p.Gln128=)
c.17A= (p.Gln6=)
n.196A=
c.301A=
c.105A=
c.563A= (p.Gln188=)
c.2852A= (p.Gln951=)
n.1811A=
c.1079A= (p.Gln360=)
c.14A= (p.Gln5=)
n.909A=
c.135A=
c.1763A= (p.Gln588=)
c.1583A= (p.Gln528=)
c.1343A= (p.Gln448=)
c.962A= (p.Gln321=)
c.-20+15717A= (n.-20+15717A=)
c.2894A= (p.Gln965=)
c.2714A= (p.Gln905=)
n.2977A=
6g.157148924A>CCA4067181ARID1Bc.3062A>C (p.Gln1021Pro)
c.2972A>C (p.Gln991Pro)
c.1076A>C (p.Gln359Pro)
c.3101A>C (p.Gln1034Pro)
c.2813A>C (p.Gln938Pro)
c.1220A>C (p.Gln407Pro)
n.963A>C
c.383A>C (p.Gln128Pro)
c.17A>C (p.Gln6Pro)
n.196A>C
c.301A>C
c.105A>C
c.563A>C (p.Gln188Pro)
c.2852A>C (p.Gln951Pro)
n.1811A>C
c.1079A>C (p.Gln360Pro)
c.14A>C (p.Gln5Pro)
n.909A>C
c.135A>C
c.1763A>C (p.Gln588Pro)
c.1583A>C (p.Gln528Pro)
c.1343A>C (p.Gln448Pro)
c.962A>C (p.Gln321Pro)
c.-20+15717A>C (n.-20+15717A>C)
c.2894A>C (p.Gln965Pro)
c.2714A>C (p.Gln905Pro)
n.2977A>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.157148924A>GCA366389254ARID1Bc.3062A>G (p.Gln1021Arg)
c.2972A>G (p.Gln991Arg)
c.1076A>G (p.Gln359Arg)
c.3101A>G (p.Gln1034Arg)
c.2813A>G (p.Gln938Arg)
c.1220A>G (p.Gln407Arg)
n.963A>G
c.383A>G (p.Gln128Arg)
c.17A>G (p.Gln6Arg)
n.196A>G
c.301A>G
c.105A>G
c.563A>G (p.Gln188Arg)
c.2852A>G (p.Gln951Arg)
n.1811A>G
c.1079A>G (p.Gln360Arg)
c.14A>G (p.Gln5Arg)
n.909A>G
c.135A>G
c.1763A>G (p.Gln588Arg)
c.1583A>G (p.Gln528Arg)
c.1343A>G (p.Gln448Arg)
c.962A>G (p.Gln321Arg)
c.-20+15717A>G (n.-20+15717A>G)
c.2894A>G (p.Gln965Arg)
c.2714A>G (p.Gln905Arg)
n.2977A>G
6g.157148924A>TCA366389255ARID1Bc.3062A>T (p.Gln1021Leu)
c.2972A>T (p.Gln991Leu)
c.1076A>T (p.Gln359Leu)
c.3101A>T (p.Gln1034Leu)
c.2813A>T (p.Gln938Leu)
c.1220A>T (p.Gln407Leu)
n.963A>T
c.383A>T (p.Gln128Leu)
c.17A>T (p.Gln6Leu)
n.196A>T
c.301A>T
c.105A>T
c.563A>T (p.Gln188Leu)
c.2852A>T (p.Gln951Leu)
n.1811A>T
c.1079A>T (p.Gln360Leu)
c.14A>T (p.Gln5Leu)
n.909A>T
c.135A>T
c.1763A>T (p.Gln588Leu)
c.1583A>T (p.Gln528Leu)
c.1343A>T (p.Gln448Leu)
c.962A>T (p.Gln321Leu)
c.-20+15717A>T (n.-20+15717A>T)
c.2894A>T (p.Gln965Leu)
c.2714A>T (p.Gln905Leu)
n.2977A>T
6g.157148925G>ACA452990122ARID1Bc.3063G>A (p.Gln1021=)
c.2973G>A (p.Gln991=)
c.1077G>A (p.Gln359=)
c.3102G>A (p.Gln1034=)
c.2814G>A (p.Gln938=)
c.1221G>A (p.Gln407=)
n.964G>A
c.384G>A (p.Gln128=)
c.18G>A (p.Gln6=)
n.197G>A
c.302G>A
c.106G>A
c.564G>A (p.Gln188=)
c.2853G>A (p.Gln951=)
n.1812G>A
c.1080G>A (p.Gln360=)
c.15G>A (p.Gln5=)
n.910G>A
c.136G>A
c.1764G>A (p.Gln588=)
c.1584G>A (p.Gln528=)
c.1344G>A (p.Gln448=)
c.963G>A (p.Gln321=)
c.-20+15718G>A (n.-20+15718G>A)
c.2895G>A (p.Gln965=)
c.2715G>A (p.Gln905=)
n.2978G>A
gnomAD v4
6g.157148925G>CCA366389256ARID1Bc.3063G>C (p.Gln1021His)
c.2973G>C (p.Gln991His)
c.1077G>C (p.Gln359His)
c.3102G>C (p.Gln1034His)
c.2814G>C (p.Gln938His)
c.1221G>C (p.Gln407His)
n.964G>C
c.384G>C (p.Gln128His)
c.18G>C (p.Gln6His)
n.197G>C
c.302G>C
c.106G>C
c.564G>C (p.Gln188His)
c.2853G>C (p.Gln951His)
n.1812G>C
c.1080G>C (p.Gln360His)
c.15G>C (p.Gln5His)
n.910G>C
c.136G>C
c.1764G>C (p.Gln588His)
c.1584G>C (p.Gln528His)
c.1344G>C (p.Gln448His)
c.963G>C (p.Gln321His)
c.-20+15718G>C (n.-20+15718G>C)
c.2895G>C (p.Gln965His)
c.2715G>C (p.Gln905His)
n.2978G>C
6g.157148925G>TCA366389257ARID1Bc.3063G>T (p.Gln1021His)
c.2973G>T (p.Gln991His)
c.1077G>T (p.Gln359His)
c.3102G>T (p.Gln1034His)
c.2814G>T (p.Gln938His)
c.1221G>T (p.Gln407His)
n.964G>T
c.384G>T (p.Gln128His)
c.18G>T (p.Gln6His)
n.197G>T
c.302G>T
c.106G>T
c.564G>T (p.Gln188His)
c.2853G>T (p.Gln951His)
n.1812G>T
c.1080G>T (p.Gln360His)
c.15G>T (p.Gln5His)
n.910G>T
c.136G>T
c.1764G>T (p.Gln588His)
c.1584G>T (p.Gln528His)
c.1344G>T (p.Gln448His)
c.963G>T (p.Gln321His)
c.-20+15718G>T (n.-20+15718G>T)
c.2895G>T (p.Gln965His)
c.2715G>T (p.Gln905His)
n.2978G>T
6g.157148926G>ACA366389258ARID1Bc.3064G>A (p.Ala1022Thr)
c.2974G>A (p.Ala992Thr)
c.1078G>A (p.Ala360Thr)
c.3103G>A (p.Ala1035Thr)
c.2815G>A (p.Ala939Thr)
c.1222G>A (p.Ala408Thr)
n.965G>A
c.385G>A (p.Ala129Thr)
c.19G>A (p.Ala7Thr)
n.198G>A
c.303G>A
c.107G>A
c.565G>A (p.Ala189Thr)
c.2854G>A (p.Ala952Thr)
n.1813G>A
c.1081G>A (p.Ala361Thr)
c.16G>A (p.Ala6Thr)
n.911G>A
c.137G>A
c.1765G>A (p.Ala589Thr)
c.1585G>A (p.Ala529Thr)
c.1345G>A (p.Ala449Thr)
c.964G>A (p.Ala322Thr)
c.-20+15719G>A (n.-20+15719G>A)
c.2896G>A (p.Ala966Thr)
c.2716G>A (p.Ala906Thr)
n.2979G>A
6g.157148926G>CCA366389259ARID1Bc.3064G>C (p.Ala1022Pro)
c.2974G>C (p.Ala992Pro)
c.1078G>C (p.Ala360Pro)
c.3103G>C (p.Ala1035Pro)
c.2815G>C (p.Ala939Pro)
c.1222G>C (p.Ala408Pro)
n.965G>C
c.385G>C (p.Ala129Pro)
c.19G>C (p.Ala7Pro)
n.198G>C
c.303G>C
c.107G>C
c.565G>C (p.Ala189Pro)
c.2854G>C (p.Ala952Pro)
n.1813G>C
c.1081G>C (p.Ala361Pro)
c.16G>C (p.Ala6Pro)
n.911G>C
c.137G>C
c.1765G>C (p.Ala589Pro)
c.1585G>C (p.Ala529Pro)
c.1345G>C (p.Ala449Pro)
c.964G>C (p.Ala322Pro)
c.-20+15719G>C (n.-20+15719G>C)
c.2896G>C (p.Ala966Pro)
c.2716G>C (p.Ala906Pro)
n.2979G>C
6g.157148926G=CA1675517079ARID1Bc.3064G= (p.Ala1022=)
c.2974G= (p.Ala992=)
c.1078G= (p.Ala360=)
c.3103G= (p.Ala1035=)
c.2815G= (p.Ala939=)
c.1222G= (p.Ala408=)
n.965G=
c.385G= (p.Ala129=)
c.19G= (p.Ala7=)
n.198G=
c.303G=
c.107G=
c.565G= (p.Ala189=)
c.2854G= (p.Ala952=)
n.1813G=
c.1081G= (p.Ala361=)
c.16G= (p.Ala6=)
n.911G=
c.137G=
c.1765G= (p.Ala589=)
c.1585G= (p.Ala529=)
c.1345G= (p.Ala449=)
c.964G= (p.Ala322=)
c.-20+15719G= (n.-20+15719G=)
c.2896G= (p.Ala966=)
c.2716G= (p.Ala906=)
n.2979G=
6g.157148926G>TCA4067182ARID1Bc.3064G>T (p.Ala1022Ser)
c.2974G>T (p.Ala992Ser)
c.1078G>T (p.Ala360Ser)
c.3103G>T (p.Ala1035Ser)
c.2815G>T (p.Ala939Ser)
c.1222G>T (p.Ala408Ser)
n.965G>T
c.385G>T (p.Ala129Ser)
c.19G>T (p.Ala7Ser)
n.198G>T
c.303G>T
c.107G>T
c.565G>T (p.Ala189Ser)
c.2854G>T (p.Ala952Ser)
n.1813G>T
c.1081G>T (p.Ala361Ser)
c.16G>T (p.Ala6Ser)
n.911G>T
c.137G>T
c.1765G>T (p.Ala589Ser)
c.1585G>T (p.Ala529Ser)
c.1345G>T (p.Ala449Ser)
c.964G>T (p.Ala322Ser)
c.-20+15719G>T (n.-20+15719G>T)
c.2896G>T (p.Ala966Ser)
c.2716G>T (p.Ala906Ser)
n.2979G>T
dbSNP ExAC gnomAD v2 gnomAD v4
6g.157148927C>ACA366389260ARID1Bc.3065C>A (p.Ala1022Asp)
c.2975C>A (p.Ala992Asp)
c.1079C>A (p.Ala360Asp)
c.3104C>A (p.Ala1035Asp)
c.2816C>A (p.Ala939Asp)
c.1223C>A (p.Ala408Asp)
n.966C>A
c.386C>A (p.Ala129Asp)
c.20C>A (p.Ala7Asp)
n.199C>A
c.304C>A
c.108C>A
c.566C>A (p.Ala189Asp)
c.2855C>A (p.Ala952Asp)
n.1814C>A
c.1082C>A (p.Ala361Asp)
c.17C>A (p.Ala6Asp)
n.912C>A
c.138C>A
c.1766C>A (p.Ala589Asp)
c.1586C>A (p.Ala529Asp)
c.1346C>A (p.Ala449Asp)
c.965C>A (p.Ala322Asp)
c.-20+15720C>A (n.-20+15720C>A)
c.2897C>A (p.Ala966Asp)
c.2717C>A (p.Ala906Asp)
n.2980C>A
6g.157148927C>GCA366389261ARID1Bc.3065C>G (p.Ala1022Gly)
c.2975C>G (p.Ala992Gly)
c.1079C>G (p.Ala360Gly)
c.3104C>G (p.Ala1035Gly)
c.2816C>G (p.Ala939Gly)
c.1223C>G (p.Ala408Gly)
n.966C>G
c.386C>G (p.Ala129Gly)
c.20C>G (p.Ala7Gly)
n.199C>G
c.304C>G
c.108C>G
c.566C>G (p.Ala189Gly)
c.2855C>G (p.Ala952Gly)
n.1814C>G
c.1082C>G (p.Ala361Gly)
c.17C>G (p.Ala6Gly)
n.912C>G
c.138C>G
c.1766C>G (p.Ala589Gly)
c.1586C>G (p.Ala529Gly)
c.1346C>G (p.Ala449Gly)
c.965C>G (p.Ala322Gly)
c.-20+15720C>G (n.-20+15720C>G)
c.2897C>G (p.Ala966Gly)
c.2717C>G (p.Ala906Gly)
n.2980C>G
6g.157148927C>TCA366389262ARID1Bc.3065C>T (p.Ala1022Val)
c.2975C>T (p.Ala992Val)
c.1079C>T (p.Ala360Val)
c.3104C>T (p.Ala1035Val)
c.2816C>T (p.Ala939Val)
c.1223C>T (p.Ala408Val)
n.966C>T
c.386C>T (p.Ala129Val)
c.20C>T (p.Ala7Val)
n.199C>T
c.304C>T
c.108C>T
c.566C>T (p.Ala189Val)
c.2855C>T (p.Ala952Val)
n.1814C>T
c.1082C>T (p.Ala361Val)
c.17C>T (p.Ala6Val)
n.912C>T
c.138C>T
c.1766C>T (p.Ala589Val)
c.1586C>T (p.Ala529Val)
c.1346C>T (p.Ala449Val)
c.965C>T (p.Ala322Val)
c.-20+15720C>T (n.-20+15720C>T)
c.2897C>T (p.Ala966Val)
c.2717C>T (p.Ala906Val)
n.2980C>T
6g.157148928T>ACA452990125ARID1Bc.3066T>A (p.Ala1022=)
c.2976T>A (p.Ala992=)
c.1080T>A (p.Ala360=)
c.3105T>A (p.Ala1035=)
c.2817T>A (p.Ala939=)
c.1224T>A (p.Ala408=)
n.967T>A
c.387T>A (p.Ala129=)
c.21T>A (p.Ala7=)
n.200T>A
c.305T>A
c.109T>A
c.567T>A (p.Ala189=)
c.2856T>A (p.Ala952=)
n.1815T>A
c.1083T>A (p.Ala361=)
c.18T>A (p.Ala6=)
n.913T>A
c.139T>A
c.1767T>A (p.Ala589=)
c.1587T>A (p.Ala529=)
c.1347T>A (p.Ala449=)
c.966T>A (p.Ala322=)
c.-20+15721T>A (n.-20+15721T>A)
c.2898T>A (p.Ala966=)
c.2718T>A (p.Ala906=)
n.2981T>A
6g.157148928T>CCA452990126ARID1Bc.3066T>C (p.Ala1022=)
c.2976T>C (p.Ala992=)
c.1080T>C (p.Ala360=)
c.3105T>C (p.Ala1035=)
c.2817T>C (p.Ala939=)
c.1224T>C (p.Ala408=)
n.967T>C
c.387T>C (p.Ala129=)
c.21T>C (p.Ala7=)
n.200T>C
c.305T>C
c.109T>C
c.567T>C (p.Ala189=)
c.2856T>C (p.Ala952=)
n.1815T>C
c.1083T>C (p.Ala361=)
c.18T>C (p.Ala6=)
n.913T>C
c.139T>C
c.1767T>C (p.Ala589=)
c.1587T>C (p.Ala529=)
c.1347T>C (p.Ala449=)
c.966T>C (p.Ala322=)
c.-20+15721T>C (n.-20+15721T>C)
c.2898T>C (p.Ala966=)
c.2718T>C (p.Ala906=)
n.2981T>C
6g.157148928T>GCA452990127ARID1Bc.3066T>G (p.Ala1022=)
c.2976T>G (p.Ala992=)
c.1080T>G (p.Ala360=)
c.3105T>G (p.Ala1035=)
c.2817T>G (p.Ala939=)
c.1224T>G (p.Ala408=)
n.967T>G
c.387T>G (p.Ala129=)
c.21T>G (p.Ala7=)
n.200T>G
c.305T>G
c.109T>G
c.567T>G (p.Ala189=)
c.2856T>G (p.Ala952=)
n.1815T>G
c.1083T>G (p.Ala361=)
c.18T>G (p.Ala6=)
n.913T>G
c.139T>G
c.1767T>G (p.Ala589=)
c.1587T>G (p.Ala529=)
c.1347T>G (p.Ala449=)
c.966T>G (p.Ala322=)
c.-20+15721T>G (n.-20+15721T>G)
c.2898T>G (p.Ala966=)
c.2718T>G (p.Ala906=)
n.2981T>G
6g.157148929G>ACA366389265ARID1Bc.3067G>A (p.Ala1023Thr)
c.2977G>A (p.Ala993Thr)
c.1081G>A (p.Ala361Thr)
c.3106G>A (p.Ala1036Thr)
c.2818G>A (p.Ala940Thr)
c.1225G>A (p.Ala409Thr)
n.968G>A
c.388G>A (p.Ala130Thr)
c.22G>A (p.Ala8Thr)
n.201G>A
c.306G>A
c.110G>A
c.568G>A (p.Ala190Thr)
c.2857G>A (p.Ala953Thr)
n.1816G>A
c.1084G>A (p.Ala362Thr)
c.19G>A (p.Ala7Thr)
n.914G>A
c.140G>A
c.1768G>A (p.Ala590Thr)
c.1588G>A (p.Ala530Thr)
c.1348G>A (p.Ala450Thr)
c.967G>A (p.Ala323Thr)
c.-20+15722G>A (n.-20+15722G>A)
c.2899G>A (p.Ala967Thr)
c.2719G>A (p.Ala907Thr)
n.2982G>A
dbSNP gnomAD v4
6g.157148929G>CCA366389264ARID1Bc.3067G>C (p.Ala1023Pro)
c.2977G>C (p.Ala993Pro)
c.1081G>C (p.Ala361Pro)
c.3106G>C (p.Ala1036Pro)
c.2818G>C (p.Ala940Pro)
c.1225G>C (p.Ala409Pro)
n.968G>C
c.388G>C (p.Ala130Pro)
c.22G>C (p.Ala8Pro)
n.201G>C
c.306G>C
c.110G>C
c.568G>C (p.Ala190Pro)
c.2857G>C (p.Ala953Pro)
n.1816G>C
c.1084G>C (p.Ala362Pro)
c.19G>C (p.Ala7Pro)
n.914G>C
c.140G>C
c.1768G>C (p.Ala590Pro)
c.1588G>C (p.Ala530Pro)
c.1348G>C (p.Ala450Pro)
c.967G>C (p.Ala323Pro)
c.-20+15722G>C (n.-20+15722G>C)
c.2899G>C (p.Ala967Pro)
c.2719G>C (p.Ala907Pro)
n.2982G>C
6g.157148929G>TCA366389263ARID1Bc.3067G>T (p.Ala1023Ser)
c.2977G>T (p.Ala993Ser)
c.1081G>T (p.Ala361Ser)
c.3106G>T (p.Ala1036Ser)
c.2818G>T (p.Ala940Ser)
c.1225G>T (p.Ala409Ser)
n.968G>T
c.388G>T (p.Ala130Ser)
c.22G>T (p.Ala8Ser)
n.201G>T
c.306G>T
c.110G>T
c.568G>T (p.Ala190Ser)
c.2857G>T (p.Ala953Ser)
n.1816G>T
c.1084G>T (p.Ala362Ser)
c.19G>T (p.Ala7Ser)
n.914G>T
c.140G>T
c.1768G>T (p.Ala590Ser)
c.1588G>T (p.Ala530Ser)
c.1348G>T (p.Ala450Ser)
c.967G>T (p.Ala323Ser)
c.-20+15722G>T (n.-20+15722G>T)
c.2899G>T (p.Ala967Ser)
c.2719G>T (p.Ala907Ser)
n.2982G>T
6g.157148930C>ACA366389266ARID1Bc.3068C>A (p.Ala1023Asp)
c.2978C>A (p.Ala993Asp)
c.1082C>A (p.Ala361Asp)
c.3107C>A (p.Ala1036Asp)
c.2819C>A (p.Ala940Asp)
c.1226C>A (p.Ala409Asp)
n.969C>A
c.389C>A (p.Ala130Asp)
c.23C>A (p.Ala8Asp)
n.202C>A
c.307C>A
c.111C>A
c.569C>A (p.Ala190Asp)
c.2858C>A (p.Ala953Asp)
n.1817C>A
c.1085C>A (p.Ala362Asp)
c.20C>A (p.Ala7Asp)
n.915C>A
c.141C>A
c.1769C>A (p.Ala590Asp)
c.1589C>A (p.Ala530Asp)
c.1349C>A (p.Ala450Asp)
c.968C>A (p.Ala323Asp)
c.-20+15723C>A (n.-20+15723C>A)
c.2900C>A (p.Ala967Asp)
c.2720C>A (p.Ala907Asp)
n.2983C>A
6g.157148930C>GCA366389267ARID1Bc.3068C>G (p.Ala1023Gly)
c.2978C>G (p.Ala993Gly)
c.1082C>G (p.Ala361Gly)
c.3107C>G (p.Ala1036Gly)
c.2819C>G (p.Ala940Gly)
c.1226C>G (p.Ala409Gly)
n.969C>G
c.389C>G (p.Ala130Gly)
c.23C>G (p.Ala8Gly)
n.202C>G
c.307C>G
c.111C>G
c.569C>G (p.Ala190Gly)
c.2858C>G (p.Ala953Gly)
n.1817C>G
c.1085C>G (p.Ala362Gly)
c.20C>G (p.Ala7Gly)
n.915C>G
c.141C>G
c.1769C>G (p.Ala590Gly)
c.1589C>G (p.Ala530Gly)
c.1349C>G (p.Ala450Gly)
c.968C>G (p.Ala323Gly)
c.-20+15723C>G (n.-20+15723C>G)
c.2900C>G (p.Ala967Gly)
c.2720C>G (p.Ala907Gly)
n.2983C>G
6g.157148930C>TCA366389268ARID1Bc.3068C>T (p.Ala1023Val)
c.2978C>T (p.Ala993Val)
c.1082C>T (p.Ala361Val)
c.3107C>T (p.Ala1036Val)
c.2819C>T (p.Ala940Val)
c.1226C>T (p.Ala409Val)
n.969C>T
c.389C>T (p.Ala130Val)
c.23C>T (p.Ala8Val)
n.202C>T
c.307C>T
c.111C>T
c.569C>T (p.Ala190Val)
c.2858C>T (p.Ala953Val)
n.1817C>T
c.1085C>T (p.Ala362Val)
c.20C>T (p.Ala7Val)
n.915C>T
c.141C>T
c.1769C>T (p.Ala590Val)
c.1589C>T (p.Ala530Val)
c.1349C>T (p.Ala450Val)
c.968C>T (p.Ala323Val)
c.-20+15723C>T (n.-20+15723C>T)
c.2900C>T (p.Ala967Val)
c.2720C>T (p.Ala907Val)
n.2983C>T
dbSNP
6g.157148931T>ACA452990131ARID1Bc.3069T>A (p.Ala1023=)
c.2979T>A (p.Ala993=)
c.1083T>A (p.Ala361=)
c.3108T>A (p.Ala1036=)
c.2820T>A (p.Ala940=)
c.1227T>A (p.Ala409=)
n.970T>A
c.390T>A (p.Ala130=)
c.24T>A (p.Ala8=)
n.203T>A
c.308T>A
c.112T>A
c.570T>A (p.Ala190=)
c.2859T>A (p.Ala953=)
n.1818T>A
c.1086T>A (p.Ala362=)
c.21T>A (p.Ala7=)
n.916T>A
c.142T>A
c.1770T>A (p.Ala590=)
c.1590T>A (p.Ala530=)
c.1350T>A (p.Ala450=)
c.969T>A (p.Ala323=)
c.-20+15724T>A (n.-20+15724T>A)
c.2901T>A (p.Ala967=)
c.2721T>A (p.Ala907=)
n.2984T>A
dbSNP gnomAD v3 gnomAD v4
6g.157148931T>CCA452990132ARID1Bc.3069T>C (p.Ala1023=)
c.2979T>C (p.Ala993=)
c.1083T>C (p.Ala361=)
c.3108T>C (p.Ala1036=)
c.2820T>C (p.Ala940=)
c.1227T>C (p.Ala409=)
n.970T>C
c.390T>C (p.Ala130=)
c.24T>C (p.Ala8=)
n.203T>C
c.308T>C
c.112T>C
c.570T>C (p.Ala190=)
c.2859T>C (p.Ala953=)
n.1818T>C
c.1086T>C (p.Ala362=)
c.21T>C (p.Ala7=)
n.916T>C
c.142T>C
c.1770T>C (p.Ala590=)
c.1590T>C (p.Ala530=)
c.1350T>C (p.Ala450=)
c.969T>C (p.Ala323=)
c.-20+15724T>C (n.-20+15724T>C)
c.2901T>C (p.Ala967=)
c.2721T>C (p.Ala907=)
n.2984T>C
dbSNP gnomAD v3 gnomAD v4
6g.157148931T>GCA452990133ARID1Bc.3069T>G (p.Ala1023=)
c.2979T>G (p.Ala993=)
c.1083T>G (p.Ala361=)
c.3108T>G (p.Ala1036=)
c.2820T>G (p.Ala940=)
c.1227T>G (p.Ala409=)
n.970T>G
c.390T>G (p.Ala130=)
c.24T>G (p.Ala8=)
n.203T>G
c.308T>G
c.112T>G
c.570T>G (p.Ala190=)
c.2859T>G (p.Ala953=)
n.1818T>G
c.1086T>G (p.Ala362=)
c.21T>G (p.Ala7=)
n.916T>G
c.142T>G
c.1770T>G (p.Ala590=)
c.1590T>G (p.Ala530=)
c.1350T>G (p.Ala450=)
c.969T>G (p.Ala323=)
c.-20+15724T>G (n.-20+15724T>G)
c.2901T>G (p.Ala967=)
c.2721T>G (p.Ala907=)
n.2984T>G
6g.157148931T=CA1675517080ARID1Bc.3069T= (p.Ala1023=)
c.2979T= (p.Ala993=)
c.1083T= (p.Ala361=)
c.3108T= (p.Ala1036=)
c.2820T= (p.Ala940=)
c.1227T= (p.Ala409=)
n.970T=
c.390T= (p.Ala130=)
c.24T= (p.Ala8=)
n.203T=
c.308T=
c.112T=
c.570T= (p.Ala190=)
c.2859T= (p.Ala953=)
n.1818T=
c.1086T= (p.Ala362=)
c.21T= (p.Ala7=)
n.916T=
c.142T=
c.1770T= (p.Ala590=)
c.1590T= (p.Ala530=)
c.1350T= (p.Ala450=)
c.969T= (p.Ala323=)
c.-20+15724T= (n.-20+15724T=)
c.2901T= (p.Ala967=)
c.2721T= (p.Ala907=)
n.2984T=
6g.157148932G>ACA4067183ARID1Bc.3070G>A (p.Ala1024Thr)
c.2980G>A (p.Ala994Thr)
c.1084G>A (p.Ala362Thr)
c.3109G>A (p.Ala1037Thr)
c.2821G>A (p.Ala941Thr)
c.1228G>A (p.Ala410Thr)
n.971G>A
c.391G>A (p.Ala131Thr)
c.25G>A (p.Ala9Thr)
n.204G>A
c.309G>A
c.113G>A
c.571G>A (p.Ala191Thr)
c.2860G>A (p.Ala954Thr)
n.1819G>A
c.1087G>A (p.Ala363Thr)
c.22G>A (p.Ala8Thr)
n.917G>A
c.143G>A
c.1771G>A (p.Ala591Thr)
c.1591G>A (p.Ala531Thr)
c.1351G>A (p.Ala451Thr)
c.970G>A (p.Ala324Thr)
c.-20+15725G>A (n.-20+15725G>A)
c.2902G>A (p.Ala968Thr)
c.2722G>A (p.Ala908Thr)
n.2985G>A
dbSNP ExAC gnomAD v2 gnomAD v4
6g.157148932G>CCA366389269ARID1Bc.3070G>C (p.Ala1024Pro)
c.2980G>C (p.Ala994Pro)
c.1084G>C (p.Ala362Pro)
c.3109G>C (p.Ala1037Pro)
c.2821G>C (p.Ala941Pro)
c.1228G>C (p.Ala410Pro)
n.971G>C
c.391G>C (p.Ala131Pro)
c.25G>C (p.Ala9Pro)
n.204G>C
c.309G>C
c.113G>C
c.571G>C (p.Ala191Pro)
c.2860G>C (p.Ala954Pro)
n.1819G>C
c.1087G>C (p.Ala363Pro)
c.22G>C (p.Ala8Pro)
n.917G>C
c.143G>C
c.1771G>C (p.Ala591Pro)
c.1591G>C (p.Ala531Pro)
c.1351G>C (p.Ala451Pro)
c.970G>C (p.Ala324Pro)
c.-20+15725G>C (n.-20+15725G>C)
c.2902G>C (p.Ala968Pro)
c.2722G>C (p.Ala908Pro)
n.2985G>C
6g.157148932G=CA1675517081ARID1Bc.3070G= (p.Ala1024=)
c.2980G= (p.Ala994=)
c.1084G= (p.Ala362=)
c.3109G= (p.Ala1037=)
c.2821G= (p.Ala941=)
c.1228G= (p.Ala410=)
n.971G=
c.391G= (p.Ala131=)
c.25G= (p.Ala9=)
n.204G=
c.309G=
c.113G=
c.571G= (p.Ala191=)
c.2860G= (p.Ala954=)
n.1819G=
c.1087G= (p.Ala363=)
c.22G= (p.Ala8=)
n.917G=
c.143G=
c.1771G= (p.Ala591=)
c.1591G= (p.Ala531=)
c.1351G= (p.Ala451=)
c.970G= (p.Ala324=)
c.-20+15725G= (n.-20+15725G=)
c.2902G= (p.Ala968=)
c.2722G= (p.Ala908=)
n.2985G=
6g.157148932G>TCA150846255ARID1Bc.3070G>T (p.Ala1024Ser)
c.2980G>T (p.Ala994Ser)
c.1084G>T (p.Ala362Ser)
c.3109G>T (p.Ala1037Ser)
c.2821G>T (p.Ala941Ser)
c.1228G>T (p.Ala410Ser)
n.971G>T
c.391G>T (p.Ala131Ser)
c.25G>T (p.Ala9Ser)
n.204G>T
c.309G>T
c.113G>T
c.571G>T (p.Ala191Ser)
c.2860G>T (p.Ala954Ser)
n.1819G>T
c.1087G>T (p.Ala363Ser)
c.22G>T (p.Ala8Ser)
n.917G>T
c.143G>T
c.1771G>T (p.Ala591Ser)
c.1591G>T (p.Ala531Ser)
c.1351G>T (p.Ala451Ser)
c.970G>T (p.Ala324Ser)
c.-20+15725G>T (n.-20+15725G>T)
c.2902G>T (p.Ala968Ser)
c.2722G>T (p.Ala908Ser)
n.2985G>T
dbSNP
6g.157148933C>ACA366389270ARID1Bc.3071C>A (p.Ala1024Glu)
c.2981C>A (p.Ala994Glu)
c.1085C>A (p.Ala362Glu)
c.3110C>A (p.Ala1037Glu)
c.2822C>A (p.Ala941Glu)
c.1229C>A (p.Ala410Glu)
n.972C>A
c.392C>A (p.Ala131Glu)
c.26C>A (p.Ala9Glu)
n.205C>A
c.310C>A
c.114C>A
c.572C>A (p.Ala191Glu)
c.2861C>A (p.Ala954Glu)
n.1820C>A
c.1088C>A (p.Ala363Glu)
c.23C>A (p.Ala8Glu)
n.918C>A
c.144C>A
c.1772C>A (p.Ala591Glu)
c.1592C>A (p.Ala531Glu)
c.1352C>A (p.Ala451Glu)
c.971C>A (p.Ala324Glu)
c.-20+15726C>A (n.-20+15726C>A)
c.2903C>A (p.Ala968Glu)
c.2723C>A (p.Ala908Glu)
n.2986C>A
dbSNP
6g.157148933C=CA1675517082ARID1Bc.3071C= (p.Ala1024=)
c.2981C= (p.Ala994=)
c.1085C= (p.Ala362=)
c.3110C= (p.Ala1037=)
c.2822C= (p.Ala941=)
c.1229C= (p.Ala410=)
n.972C=
c.392C= (p.Ala131=)
c.26C= (p.Ala9=)
n.205C=
c.310C=
c.114C=
c.572C= (p.Ala191=)
c.2861C= (p.Ala954=)
n.1820C=
c.1088C= (p.Ala363=)
c.23C= (p.Ala8=)
n.918C=
c.144C=
c.1772C= (p.Ala591=)
c.1592C= (p.Ala531=)
c.1352C= (p.Ala451=)
c.971C= (p.Ala324=)
c.-20+15726C= (n.-20+15726C=)
c.2903C= (p.Ala968=)
c.2723C= (p.Ala908=)
n.2986C=
6g.157148933C>GCA366389272ARID1Bc.3071C>G (p.Ala1024Gly)
c.2981C>G (p.Ala994Gly)
c.1085C>G (p.Ala362Gly)
c.3110C>G (p.Ala1037Gly)
c.2822C>G (p.Ala941Gly)
c.1229C>G (p.Ala410Gly)
n.972C>G
c.392C>G (p.Ala131Gly)
c.26C>G (p.Ala9Gly)
n.205C>G
c.310C>G
c.114C>G
c.572C>G (p.Ala191Gly)
c.2861C>G (p.Ala954Gly)
n.1820C>G
c.1088C>G (p.Ala363Gly)
c.23C>G (p.Ala8Gly)
n.918C>G
c.144C>G
c.1772C>G (p.Ala591Gly)
c.1592C>G (p.Ala531Gly)
c.1352C>G (p.Ala451Gly)
c.971C>G (p.Ala324Gly)
c.-20+15726C>G (n.-20+15726C>G)
c.2903C>G (p.Ala968Gly)
c.2723C>G (p.Ala908Gly)
n.2986C>G
gnomAD v4
6g.157148933C>TCA366389271ARID1Bc.3071C>T (p.Ala1024Val)
c.2981C>T (p.Ala994Val)
c.1085C>T (p.Ala362Val)
c.3110C>T (p.Ala1037Val)
c.2822C>T (p.Ala941Val)
c.1229C>T (p.Ala410Val)
n.972C>T
c.392C>T (p.Ala131Val)
c.26C>T (p.Ala9Val)
n.205C>T
c.310C>T
c.114C>T
c.572C>T (p.Ala191Val)
c.2861C>T (p.Ala954Val)
n.1820C>T
c.1088C>T (p.Ala363Val)
c.23C>T (p.Ala8Val)
n.918C>T
c.144C>T
c.1772C>T (p.Ala591Val)
c.1592C>T (p.Ala531Val)
c.1352C>T (p.Ala451Val)
c.971C>T (p.Ala324Val)
c.-20+15726C>T (n.-20+15726C>T)
c.2903C>T (p.Ala968Val)
c.2723C>T (p.Ala908Val)
n.2986C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.157148934G>ACA452990134ARID1Bc.3072G>A (p.Ala1024=)
c.2982G>A (p.Ala994=)
c.1086G>A (p.Ala362=)
c.3111G>A (p.Ala1037=)
c.2823G>A (p.Ala941=)
c.1230G>A (p.Ala410=)
n.973G>A
c.393G>A (p.Ala131=)
c.27G>A (p.Ala9=)
n.206G>A
c.311G>A
c.115G>A
c.573G>A (p.Ala191=)
c.2862G>A (p.Ala954=)
n.1821G>A
c.1089G>A (p.Ala363=)
c.24G>A (p.Ala8=)
n.919G>A
c.145G>A
c.1773G>A (p.Ala591=)
c.1593G>A (p.Ala531=)
c.1353G>A (p.Ala451=)
c.972G>A (p.Ala324=)
c.-20+15727G>A (n.-20+15727G>A)
c.2904G>A (p.Ala968=)
c.2724G>A (p.Ala908=)
n.2987G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.157148934G>CCA4067184ARID1Bc.3072G>C (p.Ala1024=)
c.2982G>C (p.Ala994=)
c.1086G>C (p.Ala362=)
c.3111G>C (p.Ala1037=)
c.2823G>C (p.Ala941=)
c.1230G>C (p.Ala410=)
n.973G>C
c.393G>C (p.Ala131=)
c.27G>C (p.Ala9=)
n.206G>C
c.311G>C
c.115G>C
c.573G>C (p.Ala191=)
c.2862G>C (p.Ala954=)
n.1821G>C
c.1089G>C (p.Ala363=)
c.24G>C (p.Ala8=)
n.919G>C
c.145G>C
c.1773G>C (p.Ala591=)
c.1593G>C (p.Ala531=)
c.1353G>C (p.Ala451=)
c.972G>C (p.Ala324=)
c.-20+15727G>C (n.-20+15727G>C)
c.2904G>C (p.Ala968=)
c.2724G>C (p.Ala908=)
n.2987G>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.157148934G=CA1675517083ARID1Bc.3072G= (p.Ala1024=)
c.2982G= (p.Ala994=)
c.1086G= (p.Ala362=)
c.3111G= (p.Ala1037=)
c.2823G= (p.Ala941=)
c.1230G= (p.Ala410=)
n.973G=
c.393G= (p.Ala131=)
c.27G= (p.Ala9=)
n.206G=
c.311G=
c.115G=
c.573G= (p.Ala191=)
c.2862G= (p.Ala954=)
n.1821G=
c.1089G= (p.Ala363=)
c.24G= (p.Ala8=)
n.919G=
c.145G=
c.1773G= (p.Ala591=)
c.1593G= (p.Ala531=)
c.1353G= (p.Ala451=)
c.972G= (p.Ala324=)
c.-20+15727G= (n.-20+15727G=)
c.2904G= (p.Ala968=)
c.2724G= (p.Ala908=)
n.2987G=
6g.157148934G>TCA452990137ARID1Bc.3072G>T (p.Ala1024=)
c.2982G>T (p.Ala994=)
c.1086G>T (p.Ala362=)
c.3111G>T (p.Ala1037=)
c.2823G>T (p.Ala941=)
c.1230G>T (p.Ala410=)
n.973G>T
c.393G>T (p.Ala131=)
c.27G>T (p.Ala9=)
n.206G>T
c.311G>T
c.115G>T
c.573G>T (p.Ala191=)
c.2862G>T (p.Ala954=)
n.1821G>T
c.1089G>T (p.Ala363=)
c.24G>T (p.Ala8=)
n.919G>T
c.145G>T
c.1773G>T (p.Ala591=)
c.1593G>T (p.Ala531=)
c.1353G>T (p.Ala451=)
c.972G>T (p.Ala324=)
c.-20+15727G>T (n.-20+15727G>T)
c.2904G>T (p.Ala968=)
c.2724G>T (p.Ala908=)
n.2987G>T
gnomAD v4
6g.157148935A>CCA366389273ARID1Bc.3073A>C (p.Asn1025His)
c.2983A>C (p.Asn995His)
c.1087A>C (p.Asn363His)
c.3112A>C (p.Asn1038His)
c.2824A>C (p.Asn942His)
c.1231A>C (p.Asn411His)
n.974A>C
c.394A>C (p.Asn132His)
c.28A>C (p.Asn10His)
n.207A>C
c.312A>C
c.116A>C
c.574A>C (p.Asn192His)
c.2863A>C (p.Asn955His)
n.1822A>C
c.1090A>C (p.Asn364His)
c.25A>C (p.Asn9His)
n.920A>C
c.146A>C
c.1774A>C (p.Asn592His)
c.1594A>C (p.Asn532His)
c.1354A>C (p.Asn452His)
c.973A>C (p.Asn325His)
c.-20+15728A>C (n.-20+15728A>C)
c.2905A>C (p.Asn969His)
c.2725A>C (p.Asn909His)
n.2988A>C
6g.157148935A>GCA366389274ARID1Bc.3073A>G (p.Asn1025Asp)
c.2983A>G (p.Asn995Asp)
c.1087A>G (p.Asn363Asp)
c.3112A>G (p.Asn1038Asp)
c.2824A>G (p.Asn942Asp)
c.1231A>G (p.Asn411Asp)
n.974A>G
c.394A>G (p.Asn132Asp)
c.28A>G (p.Asn10Asp)
n.207A>G
c.312A>G
c.116A>G
c.574A>G (p.Asn192Asp)
c.2863A>G (p.Asn955Asp)
n.1822A>G
c.1090A>G (p.Asn364Asp)
c.25A>G (p.Asn9Asp)
n.920A>G
c.146A>G
c.1774A>G (p.Asn592Asp)
c.1594A>G (p.Asn532Asp)
c.1354A>G (p.Asn452Asp)
c.973A>G (p.Asn325Asp)
c.-20+15728A>G (n.-20+15728A>G)
c.2905A>G (p.Asn969Asp)
c.2725A>G (p.Asn909Asp)
n.2988A>G
6g.157148935A>TCA366389275ARID1Bc.3073A>T (p.Asn1025Tyr)
c.2983A>T (p.Asn995Tyr)
c.1087A>T (p.Asn363Tyr)
c.3112A>T (p.Asn1038Tyr)
c.2824A>T (p.Asn942Tyr)
c.1231A>T (p.Asn411Tyr)
n.974A>T
c.394A>T (p.Asn132Tyr)
c.28A>T (p.Asn10Tyr)
n.207A>T
c.312A>T
c.116A>T
c.574A>T (p.Asn192Tyr)
c.2863A>T (p.Asn955Tyr)
n.1822A>T
c.1090A>T (p.Asn364Tyr)
c.25A>T (p.Asn9Tyr)
n.920A>T
c.146A>T
c.1774A>T (p.Asn592Tyr)
c.1594A>T (p.Asn532Tyr)
c.1354A>T (p.Asn452Tyr)
c.973A>T (p.Asn325Tyr)
c.-20+15728A>T (n.-20+15728A>T)
c.2905A>T (p.Asn969Tyr)
c.2725A>T (p.Asn909Tyr)
n.2988A>T
6g.157148936A>CCA366389276ARID1Bc.3074A>C (p.Asn1025Thr)
c.2984A>C (p.Asn995Thr)
c.1088A>C (p.Asn363Thr)
c.3113A>C (p.Asn1038Thr)
c.2825A>C (p.Asn942Thr)
c.1232A>C (p.Asn411Thr)
n.975A>C
c.395A>C (p.Asn132Thr)
c.29A>C (p.Asn10Thr)
n.208A>C
c.313A>C
c.117A>C
c.575A>C (p.Asn192Thr)
c.2864A>C (p.Asn955Thr)
n.1823A>C
c.1091A>C (p.Asn364Thr)
c.26A>C (p.Asn9Thr)
n.921A>C
c.147A>C
c.1775A>C (p.Asn592Thr)
c.1595A>C (p.Asn532Thr)
c.1355A>C (p.Asn452Thr)
c.974A>C (p.Asn325Thr)
c.-20+15729A>C (n.-20+15729A>C)
c.2906A>C (p.Asn969Thr)
c.2726A>C (p.Asn909Thr)
n.2989A>C
6g.157148936A>GCA366389277ARID1Bc.3074A>G (p.Asn1025Ser)
c.2984A>G (p.Asn995Ser)
c.1088A>G (p.Asn363Ser)
c.3113A>G (p.Asn1038Ser)
c.2825A>G (p.Asn942Ser)
c.1232A>G (p.Asn411Ser)
n.975A>G
c.395A>G (p.Asn132Ser)
c.29A>G (p.Asn10Ser)
n.208A>G
c.313A>G
c.117A>G
c.575A>G (p.Asn192Ser)
c.2864A>G (p.Asn955Ser)
n.1823A>G
c.1091A>G (p.Asn364Ser)
c.26A>G (p.Asn9Ser)
n.921A>G
c.147A>G
c.1775A>G (p.Asn592Ser)
c.1595A>G (p.Asn532Ser)
c.1355A>G (p.Asn452Ser)
c.974A>G (p.Asn325Ser)
c.-20+15729A>G (n.-20+15729A>G)
c.2906A>G (p.Asn969Ser)
c.2726A>G (p.Asn909Ser)
n.2989A>G
6g.157148936A>TCA366389278ARID1Bc.3074A>T (p.Asn1025Ile)
c.2984A>T (p.Asn995Ile)
c.1088A>T (p.Asn363Ile)
c.3113A>T (p.Asn1038Ile)
c.2825A>T (p.Asn942Ile)
c.1232A>T (p.Asn411Ile)
n.975A>T
c.395A>T (p.Asn132Ile)
c.29A>T (p.Asn10Ile)
n.208A>T
c.313A>T
c.117A>T
c.575A>T (p.Asn192Ile)
c.2864A>T (p.Asn955Ile)
n.1823A>T
c.1091A>T (p.Asn364Ile)
c.26A>T (p.Asn9Ile)
n.921A>T
c.147A>T
c.1775A>T (p.Asn592Ile)
c.1595A>T (p.Asn532Ile)
c.1355A>T (p.Asn452Ile)
c.974A>T (p.Asn325Ile)
c.-20+15729A>T (n.-20+15729A>T)
c.2906A>T (p.Asn969Ile)
c.2726A>T (p.Asn909Ile)
n.2989A>T
ClinVar dbSNP
6g.157148937C>ACA366389279ARID1Bc.3075C>A (p.Asn1025Lys)
c.2985C>A (p.Asn995Lys)
c.1089C>A (p.Asn363Lys)
c.3114C>A (p.Asn1038Lys)
c.2826C>A (p.Asn942Lys)
c.1233C>A (p.Asn411Lys)
n.976C>A
c.396C>A (p.Asn132Lys)
c.30C>A (p.Asn10Lys)
n.209C>A
c.314C>A
c.118C>A
c.576C>A (p.Asn192Lys)
c.2865C>A (p.Asn955Lys)
n.1824C>A
c.1092C>A (p.Asn364Lys)
c.27C>A (p.Asn9Lys)
n.922C>A
c.148C>A
c.1776C>A (p.Asn592Lys)
c.1596C>A (p.Asn532Lys)
c.1356C>A (p.Asn452Lys)
c.975C>A (p.Asn325Lys)
c.-20+15730C>A (n.-20+15730C>A)
c.2907C>A (p.Asn969Lys)
c.2727C>A (p.Asn909Lys)
n.2990C>A
6g.157148937C=CA1675517084ARID1Bc.3075C= (p.Asn1025=)
c.2985C= (p.Asn995=)
c.1089C= (p.Asn363=)
c.3114C= (p.Asn1038=)
c.2826C= (p.Asn942=)
c.1233C= (p.Asn411=)
n.976C=
c.396C= (p.Asn132=)
c.30C= (p.Asn10=)
n.209C=
c.314C=
c.118C=
c.576C= (p.Asn192=)
c.2865C= (p.Asn955=)
n.1824C=
c.1092C= (p.Asn364=)
c.27C= (p.Asn9=)
n.922C=
c.148C=
c.1776C= (p.Asn592=)
c.1596C= (p.Asn532=)
c.1356C= (p.Asn452=)
c.975C= (p.Asn325=)
c.-20+15730C= (n.-20+15730C=)
c.2907C= (p.Asn969=)
c.2727C= (p.Asn909=)
n.2990C=
6g.157148937C>GCA366389280ARID1Bc.3075C>G (p.Asn1025Lys)
c.2985C>G (p.Asn995Lys)
c.1089C>G (p.Asn363Lys)
c.3114C>G (p.Asn1038Lys)
c.2826C>G (p.Asn942Lys)
c.1233C>G (p.Asn411Lys)
n.976C>G
c.396C>G (p.Asn132Lys)
c.30C>G (p.Asn10Lys)
n.209C>G
c.314C>G
c.118C>G
c.576C>G (p.Asn192Lys)
c.2865C>G (p.Asn955Lys)
n.1824C>G
c.1092C>G (p.Asn364Lys)
c.27C>G (p.Asn9Lys)
n.922C>G
c.148C>G
c.1776C>G (p.Asn592Lys)
c.1596C>G (p.Asn532Lys)
c.1356C>G (p.Asn452Lys)
c.975C>G (p.Asn325Lys)
c.-20+15730C>G (n.-20+15730C>G)
c.2907C>G (p.Asn969Lys)
c.2727C>G (p.Asn909Lys)
n.2990C>G
6g.157148937C>TCA150846256ARID1Bc.3075C>T (p.Asn1025=)
c.2985C>T (p.Asn995=)
c.1089C>T (p.Asn363=)
c.3114C>T (p.Asn1038=)
c.2826C>T (p.Asn942=)
c.1233C>T (p.Asn411=)
n.976C>T
c.396C>T (p.Asn132=)
c.30C>T (p.Asn10=)
n.209C>T
c.314C>T
c.118C>T
c.576C>T (p.Asn192=)
c.2865C>T (p.Asn955=)
n.1824C>T
c.1092C>T (p.Asn364=)
c.27C>T (p.Asn9=)
n.922C>T
c.148C>T
c.1776C>T (p.Asn592=)
c.1596C>T (p.Asn532=)
c.1356C>T (p.Asn452=)
c.975C>T (p.Asn325=)
c.-20+15730C>T (n.-20+15730C>T)
c.2907C>T (p.Asn969=)
c.2727C>T (p.Asn909=)
n.2990C>T
dbSNP gnomAD v2 gnomAD v4
6g.157148938T>ACA366389281ARID1Bc.3076T>A (p.Ser1026Thr)
c.2986T>A (p.Ser996Thr)
c.1090T>A (p.Ser364Thr)
c.3115T>A (p.Ser1039Thr)
c.2827T>A (p.Ser943Thr)
c.1234T>A (p.Ser412Thr)
n.977T>A
c.397T>A (p.Ser133Thr)
c.31T>A (p.Ser11Thr)
n.210T>A
c.315T>A
c.119T>A
c.577T>A (p.Ser193Thr)
c.2866T>A (p.Ser956Thr)
n.1825T>A
c.1093T>A (p.Ser365Thr)
c.28T>A (p.Ser10Thr)
n.923T>A
c.149T>A
c.1777T>A (p.Ser593Thr)
c.1597T>A (p.Ser533Thr)
c.1357T>A (p.Ser453Thr)
c.976T>A (p.Ser326Thr)
c.-20+15731T>A (n.-20+15731T>A)
c.2908T>A (p.Ser970Thr)
c.2728T>A (p.Ser910Thr)
n.2991T>A
dbSNP
6g.157148938T>CCA366389282ARID1Bc.3076T>C (p.Ser1026Pro)
c.2986T>C (p.Ser996Pro)
c.1090T>C (p.Ser364Pro)
c.3115T>C (p.Ser1039Pro)
c.2827T>C (p.Ser943Pro)
c.1234T>C (p.Ser412Pro)
n.977T>C
c.397T>C (p.Ser133Pro)
c.31T>C (p.Ser11Pro)
n.210T>C
c.315T>C
c.119T>C
c.577T>C (p.Ser193Pro)
c.2866T>C (p.Ser956Pro)
n.1825T>C
c.1093T>C (p.Ser365Pro)
c.28T>C (p.Ser10Pro)
n.923T>C
c.149T>C
c.1777T>C (p.Ser593Pro)
c.1597T>C (p.Ser533Pro)
c.1357T>C (p.Ser453Pro)
c.976T>C (p.Ser326Pro)
c.-20+15731T>C (n.-20+15731T>C)
c.2908T>C (p.Ser970Pro)
c.2728T>C (p.Ser910Pro)
n.2991T>C
6g.157148938T>GCA366389283ARID1Bc.3076T>G (p.Ser1026Ala)
c.2986T>G (p.Ser996Ala)
c.1090T>G (p.Ser364Ala)
c.3115T>G (p.Ser1039Ala)
c.2827T>G (p.Ser943Ala)
c.1234T>G (p.Ser412Ala)
n.977T>G
c.397T>G (p.Ser133Ala)
c.31T>G (p.Ser11Ala)
n.210T>G
c.315T>G
c.119T>G
c.577T>G (p.Ser193Ala)
c.2866T>G (p.Ser956Ala)
n.1825T>G
c.1093T>G (p.Ser365Ala)
c.28T>G (p.Ser10Ala)
n.923T>G
c.149T>G
c.1777T>G (p.Ser593Ala)
c.1597T>G (p.Ser533Ala)
c.1357T>G (p.Ser453Ala)
c.976T>G (p.Ser326Ala)
c.-20+15731T>G (n.-20+15731T>G)
c.2908T>G (p.Ser970Ala)
c.2728T>G (p.Ser910Ala)
n.2991T>G
6g.157148939C>ACA366389285ARID1Bc.3077C>A (p.Ser1026Ter)
c.2987C>A (p.Ser996Ter)
c.1091C>A (p.Ser364Ter)
c.3116C>A (p.Ser1039Ter)
c.2828C>A (p.Ser943Ter)
c.1235C>A (p.Ser412Ter)
n.978C>A
c.398C>A (p.Ser133Ter)
c.32C>A (p.Ser11Ter)
n.211C>A
c.316C>A
c.120C>A
c.578C>A (p.Ser193Ter)
c.2867C>A (p.Ser956Ter)
n.1826C>A
c.1094C>A (p.Ser365Ter)
c.29C>A (p.Ser10Ter)
n.924C>A
c.150C>A
c.1778C>A (p.Ser593Ter)
c.1598C>A (p.Ser533Ter)
c.1358C>A (p.Ser453Ter)
c.977C>A (p.Ser326Ter)
c.-20+15732C>A (n.-20+15732C>A)
c.2909C>A (p.Ser970Ter)
c.2729C>A (p.Ser910Ter)
n.2992C>A
6g.157148939C>GCA366389286ARID1Bc.3077C>G (p.Ser1026Ter)
c.2987C>G (p.Ser996Ter)
c.1091C>G (p.Ser364Ter)
c.3116C>G (p.Ser1039Ter)
c.2828C>G (p.Ser943Ter)
c.1235C>G (p.Ser412Ter)
n.978C>G
c.398C>G (p.Ser133Ter)
c.32C>G (p.Ser11Ter)
n.211C>G
c.316C>G
c.120C>G
c.578C>G (p.Ser193Ter)
c.2867C>G (p.Ser956Ter)
n.1826C>G
c.1094C>G (p.Ser365Ter)
c.29C>G (p.Ser10Ter)
n.924C>G
c.150C>G
c.1778C>G (p.Ser593Ter)
c.1598C>G (p.Ser533Ter)
c.1358C>G (p.Ser453Ter)
c.977C>G (p.Ser326Ter)
c.-20+15732C>G (n.-20+15732C>G)
c.2909C>G (p.Ser970Ter)
c.2729C>G (p.Ser910Ter)
n.2992C>G
6g.157148939C>TCA366389284ARID1Bc.3077C>T (p.Ser1026Leu)
c.2987C>T (p.Ser996Leu)
c.1091C>T (p.Ser364Leu)
c.3116C>T (p.Ser1039Leu)
c.2828C>T (p.Ser943Leu)
c.1235C>T (p.Ser412Leu)
n.978C>T
c.398C>T (p.Ser133Leu)
c.32C>T (p.Ser11Leu)
n.211C>T
c.316C>T
c.120C>T
c.578C>T (p.Ser193Leu)
c.2867C>T (p.Ser956Leu)
n.1826C>T
c.1094C>T (p.Ser365Leu)
c.29C>T (p.Ser10Leu)
n.924C>T
c.150C>T
c.1778C>T (p.Ser593Leu)
c.1598C>T (p.Ser533Leu)
c.1358C>T (p.Ser453Leu)
c.977C>T (p.Ser326Leu)
c.-20+15732C>T (n.-20+15732C>T)
c.2909C>T (p.Ser970Leu)
c.2729C>T (p.Ser910Leu)
n.2992C>T
6g.157148940A>CCA452990142ARID1Bc.3078A>C (p.Ser1026=)
c.2988A>C (p.Ser996=)
c.1092A>C (p.Ser364=)
c.3117A>C (p.Ser1039=)
c.2829A>C (p.Ser943=)
c.1236A>C (p.Ser412=)
n.979A>C
c.399A>C (p.Ser133=)
c.33A>C (p.Ser11=)
n.212A>C
c.317A>C
c.121A>C
c.579A>C (p.Ser193=)
c.2868A>C (p.Ser956=)
n.1827A>C
c.1095A>C (p.Ser365=)
c.30A>C (p.Ser10=)
n.925A>C
c.151A>C
c.1779A>C (p.Ser593=)
c.1599A>C (p.Ser533=)
c.1359A>C (p.Ser453=)
c.978A>C (p.Ser326=)
c.-20+15733A>C (n.-20+15733A>C)
c.2910A>C (p.Ser970=)
c.2730A>C (p.Ser910=)
n.2993A>C
6g.157148940A>GCA452990143ARID1Bc.3078A>G (p.Ser1026=)
c.2988A>G (p.Ser996=)
c.1092A>G (p.Ser364=)
c.3117A>G (p.Ser1039=)
c.2829A>G (p.Ser943=)
c.1236A>G (p.Ser412=)
n.979A>G
c.399A>G (p.Ser133=)
c.33A>G (p.Ser11=)
n.212A>G
c.317A>G
c.121A>G
c.579A>G (p.Ser193=)
c.2868A>G (p.Ser956=)
n.1827A>G
c.1095A>G (p.Ser365=)
c.30A>G (p.Ser10=)
n.925A>G
c.151A>G
c.1779A>G (p.Ser593=)
c.1599A>G (p.Ser533=)
c.1359A>G (p.Ser453=)
c.978A>G (p.Ser326=)
c.-20+15733A>G (n.-20+15733A>G)
c.2910A>G (p.Ser970=)
c.2730A>G (p.Ser910=)
n.2993A>G
6g.157148940A>TCA452990144ARID1Bc.3078A>T (p.Ser1026=)
c.2988A>T (p.Ser996=)
c.1092A>T (p.Ser364=)
c.3117A>T (p.Ser1039=)
c.2829A>T (p.Ser943=)
c.1236A>T (p.Ser412=)
n.979A>T
c.399A>T (p.Ser133=)
c.33A>T (p.Ser11=)
n.212A>T
c.317A>T
c.121A>T
c.579A>T (p.Ser193=)
c.2868A>T (p.Ser956=)
n.1827A>T
c.1095A>T (p.Ser365=)
c.30A>T (p.Ser10=)
n.925A>T
c.151A>T
c.1779A>T (p.Ser593=)
c.1599A>T (p.Ser533=)
c.1359A>T (p.Ser453=)
c.978A>T (p.Ser326=)
c.-20+15733A>T (n.-20+15733A>T)
c.2910A>T (p.Ser970=)
c.2730A>T (p.Ser910=)
n.2993A>T
6g.157148941G>ACA150846257ARID1Bc.3079G>A (p.Ala1027Thr)
c.2989G>A (p.Ala997Thr)
c.1093G>A (p.Ala365Thr)
c.3118G>A (p.Ala1040Thr)
c.2830G>A (p.Ala944Thr)
c.1237G>A (p.Ala413Thr)
n.980G>A
c.400G>A (p.Ala134Thr)
c.34G>A (p.Ala12Thr)
n.213G>A
c.318G>A
c.122G>A
c.580G>A (p.Ala194Thr)
c.2869G>A (p.Ala957Thr)
n.1828G>A
c.1096G>A (p.Ala366Thr)
c.31G>A (p.Ala11Thr)
n.926G>A
c.152G>A
c.1780G>A (p.Ala594Thr)
c.1600G>A (p.Ala534Thr)
c.1360G>A (p.Ala454Thr)
c.979G>A (p.Ala327Thr)
c.-20+15734G>A (n.-20+15734G>A)
c.2911G>A (p.Ala971Thr)
c.2731G>A (p.Ala911Thr)
n.2994G>A
ClinVar dbSNP gnomAD v3 gnomAD v4
6g.157148941G>CCA366389287ARID1Bc.3079G>C (p.Ala1027Pro)
c.2989G>C (p.Ala997Pro)
c.1093G>C (p.Ala365Pro)
c.3118G>C (p.Ala1040Pro)
c.2830G>C (p.Ala944Pro)
c.1237G>C (p.Ala413Pro)
n.980G>C
c.400G>C (p.Ala134Pro)
c.34G>C (p.Ala12Pro)
n.213G>C
c.318G>C
c.122G>C
c.580G>C (p.Ala194Pro)
c.2869G>C (p.Ala957Pro)
n.1828G>C
c.1096G>C (p.Ala366Pro)
c.31G>C (p.Ala11Pro)
n.926G>C
c.152G>C
c.1780G>C (p.Ala594Pro)
c.1600G>C (p.Ala534Pro)
c.1360G>C (p.Ala454Pro)
c.979G>C (p.Ala327Pro)
c.-20+15734G>C (n.-20+15734G>C)
c.2911G>C (p.Ala971Pro)
c.2731G>C (p.Ala911Pro)
n.2994G>C
6g.157148941G=CA1675517085ARID1Bc.3079G= (p.Ala1027=)
c.2989G= (p.Ala997=)
c.1093G= (p.Ala365=)
c.3118G= (p.Ala1040=)
c.2830G= (p.Ala944=)
c.1237G= (p.Ala413=)
n.980G=
c.400G= (p.Ala134=)
c.34G= (p.Ala12=)
n.213G=
c.318G=
c.122G=
c.580G= (p.Ala194=)
c.2869G= (p.Ala957=)
n.1828G=
c.1096G= (p.Ala366=)
c.31G= (p.Ala11=)
n.926G=
c.152G=
c.1780G= (p.Ala594=)
c.1600G= (p.Ala534=)
c.1360G= (p.Ala454=)
c.979G= (p.Ala327=)
c.-20+15734G= (n.-20+15734G=)
c.2911G= (p.Ala971=)
c.2731G= (p.Ala911=)
n.2994G=
6g.157148941G>TCA366389288ARID1Bc.3079G>T (p.Ala1027Ser)
c.2989G>T (p.Ala997Ser)
c.1093G>T (p.Ala365Ser)
c.3118G>T (p.Ala1040Ser)
c.2830G>T (p.Ala944Ser)
c.1237G>T (p.Ala413Ser)
n.980G>T
c.400G>T (p.Ala134Ser)
c.34G>T (p.Ala12Ser)
n.213G>T
c.318G>T
c.122G>T
c.580G>T (p.Ala194Ser)
c.2869G>T (p.Ala957Ser)
n.1828G>T
c.1096G>T (p.Ala366Ser)
c.31G>T (p.Ala11Ser)
n.926G>T
c.152G>T
c.1780G>T (p.Ala594Ser)
c.1600G>T (p.Ala534Ser)
c.1360G>T (p.Ala454Ser)
c.979G>T (p.Ala327Ser)
c.-20+15734G>T (n.-20+15734G>T)
c.2911G>T (p.Ala971Ser)
c.2731G>T (p.Ala911Ser)
n.2994G>T
6g.157148942C>ACA366389289ARID1Bc.3080C>A (p.Ala1027Glu)
c.2990C>A (p.Ala997Glu)
c.1094C>A (p.Ala365Glu)
c.3119C>A (p.Ala1040Glu)
c.2831C>A (p.Ala944Glu)
c.1238C>A (p.Ala413Glu)
n.981C>A
c.401C>A (p.Ala134Glu)
c.35C>A (p.Ala12Glu)
n.214C>A
c.319C>A
c.123C>A
c.581C>A (p.Ala194Glu)
c.2870C>A (p.Ala957Glu)
n.1829C>A
c.1097C>A (p.Ala366Glu)
c.32C>A (p.Ala11Glu)
n.927C>A
c.153C>A
c.1781C>A (p.Ala594Glu)
c.1601C>A (p.Ala534Glu)
c.1361C>A (p.Ala454Glu)
c.980C>A (p.Ala327Glu)
c.-20+15735C>A (n.-20+15735C>A)
c.2912C>A (p.Ala971Glu)
c.2732C>A (p.Ala911Glu)
n.2995C>A
6g.157148942C>GCA366389291ARID1Bc.3080C>G (p.Ala1027Gly)
c.2990C>G (p.Ala997Gly)
c.1094C>G (p.Ala365Gly)
c.3119C>G (p.Ala1040Gly)
c.2831C>G (p.Ala944Gly)
c.1238C>G (p.Ala413Gly)
n.981C>G
c.401C>G (p.Ala134Gly)
c.35C>G (p.Ala12Gly)
n.214C>G
c.319C>G
c.123C>G
c.581C>G (p.Ala194Gly)
c.2870C>G (p.Ala957Gly)
n.1829C>G
c.1097C>G (p.Ala366Gly)
c.32C>G (p.Ala11Gly)
n.927C>G
c.153C>G
c.1781C>G (p.Ala594Gly)
c.1601C>G (p.Ala534Gly)
c.1361C>G (p.Ala454Gly)
c.980C>G (p.Ala327Gly)
c.-20+15735C>G (n.-20+15735C>G)
c.2912C>G (p.Ala971Gly)
c.2732C>G (p.Ala911Gly)
n.2995C>G
6g.157148942C>TCA366389290ARID1Bc.3080C>T (p.Ala1027Val)
c.2990C>T (p.Ala997Val)
c.1094C>T (p.Ala365Val)
c.3119C>T (p.Ala1040Val)
c.2831C>T (p.Ala944Val)
c.1238C>T (p.Ala413Val)
n.981C>T
c.401C>T (p.Ala134Val)
c.35C>T (p.Ala12Val)
n.214C>T
c.319C>T
c.123C>T
c.581C>T (p.Ala194Val)
c.2870C>T (p.Ala957Val)
n.1829C>T
c.1097C>T (p.Ala366Val)
c.32C>T (p.Ala11Val)
n.927C>T
c.153C>T
c.1781C>T (p.Ala594Val)
c.1601C>T (p.Ala534Val)
c.1361C>T (p.Ala454Val)
c.980C>T (p.Ala327Val)
c.-20+15735C>T (n.-20+15735C>T)
c.2912C>T (p.Ala971Val)
c.2732C>T (p.Ala911Val)
n.2995C>T
dbSNP gnomAD v4
6g.157148943A>CCA452990149ARID1Bc.3081A>C (p.Ala1027=)
c.2991A>C (p.Ala997=)
c.1095A>C (p.Ala365=)
c.3120A>C (p.Ala1040=)
c.2832A>C (p.Ala944=)
c.1239A>C (p.Ala413=)
n.982A>C
c.402A>C (p.Ala134=)
c.36A>C (p.Ala12=)
n.215A>C
c.320A>C
c.124A>C
c.582A>C (p.Ala194=)
c.2871A>C (p.Ala957=)
n.1830A>C
c.1098A>C (p.Ala366=)
c.33A>C (p.Ala11=)
n.928A>C
c.154A>C
c.1782A>C (p.Ala594=)
c.1602A>C (p.Ala534=)
c.1362A>C (p.Ala454=)
c.981A>C (p.Ala327=)
c.-20+15736A>C (n.-20+15736A>C)
c.2913A>C (p.Ala971=)
c.2733A>C (p.Ala911=)
n.2996A>C
6g.157148943A>GCA452990150ARID1Bc.3081A>G (p.Ala1027=)
c.2991A>G (p.Ala997=)
c.1095A>G (p.Ala365=)
c.3120A>G (p.Ala1040=)
c.2832A>G (p.Ala944=)
c.1239A>G (p.Ala413=)
n.982A>G
c.402A>G (p.Ala134=)
c.36A>G (p.Ala12=)
n.215A>G
c.320A>G
c.124A>G
c.582A>G (p.Ala194=)
c.2871A>G (p.Ala957=)
n.1830A>G
c.1098A>G (p.Ala366=)
c.33A>G (p.Ala11=)
n.928A>G
c.154A>G
c.1782A>G (p.Ala594=)
c.1602A>G (p.Ala534=)
c.1362A>G (p.Ala454=)
c.981A>G (p.Ala327=)
c.-20+15736A>G (n.-20+15736A>G)
c.2913A>G (p.Ala971=)
c.2733A>G (p.Ala911=)
n.2996A>G
gnomAD v4
6g.157148943A>TCA452990151ARID1Bc.3081A>T (p.Ala1027=)
c.2991A>T (p.Ala997=)
c.1095A>T (p.Ala365=)
c.3120A>T (p.Ala1040=)
c.2832A>T (p.Ala944=)
c.1239A>T (p.Ala413=)
n.982A>T
c.402A>T (p.Ala134=)
c.36A>T (p.Ala12=)
n.215A>T
c.320A>T
c.124A>T
c.582A>T (p.Ala194=)
c.2871A>T (p.Ala957=)
n.1830A>T
c.1098A>T (p.Ala366=)
c.33A>T (p.Ala11=)
n.928A>T
c.154A>T
c.1782A>T (p.Ala594=)
c.1602A>T (p.Ala534=)
c.1362A>T (p.Ala454=)
c.981A>T (p.Ala327=)
c.-20+15736A>T (n.-20+15736A>T)
c.2913A>T (p.Ala971=)
c.2733A>T (p.Ala911=)
n.2996A>T
6g.157148944C>ACA366389292ARID1Bc.3082C>A (p.Gln1028Lys)
c.2992C>A (p.Gln998Lys)
c.1096C>A (p.Gln366Lys)
c.3121C>A (p.Gln1041Lys)
c.2833C>A (p.Gln945Lys)
c.1240C>A (p.Gln414Lys)
n.983C>A
c.403C>A (p.Gln135Lys)
c.37C>A (p.Gln13Lys)
n.216C>A
c.321C>A
c.125C>A
c.583C>A (p.Gln195Lys)
c.2872C>A (p.Gln958Lys)
n.1831C>A
c.1099C>A (p.Gln367Lys)
c.34C>A (p.Gln12Lys)
n.929C>A
c.155C>A
c.1783C>A (p.Gln595Lys)
c.1603C>A (p.Gln535Lys)
c.1363C>A (p.Gln455Lys)
c.982C>A (p.Gln328Lys)
c.-20+15737C>A (n.-20+15737C>A)
c.2914C>A (p.Gln972Lys)
c.2734C>A (p.Gln912Lys)
n.2997C>A
gnomAD v4 COSMIC COSMIC
6g.157148944C=CA1675517086ARID1Bc.3082C= (p.Gln1028=)
c.2992C= (p.Gln998=)
c.1096C= (p.Gln366=)
c.3121C= (p.Gln1041=)
c.2833C= (p.Gln945=)
c.1240C= (p.Gln414=)
n.983C=
c.403C= (p.Gln135=)
c.37C= (p.Gln13=)
n.216C=
c.321C=
c.125C=
c.583C= (p.Gln195=)
c.2872C= (p.Gln958=)
n.1831C=
c.1099C= (p.Gln367=)
c.34C= (p.Gln12=)
n.929C=
c.155C=
c.1783C= (p.Gln595=)
c.1603C= (p.Gln535=)
c.1363C= (p.Gln455=)
c.982C= (p.Gln328=)
c.-20+15737C= (n.-20+15737C=)
c.2914C= (p.Gln972=)
c.2734C= (p.Gln912=)
n.2997C=
6g.157148944C>GCA366389294ARID1Bc.3082C>G (p.Gln1028Glu)
c.2992C>G (p.Gln998Glu)
c.1096C>G (p.Gln366Glu)
c.3121C>G (p.Gln1041Glu)
c.2833C>G (p.Gln945Glu)
c.1240C>G (p.Gln414Glu)
n.983C>G
c.403C>G (p.Gln135Glu)
c.37C>G (p.Gln13Glu)
n.216C>G
c.321C>G
c.125C>G
c.583C>G (p.Gln195Glu)
c.2872C>G (p.Gln958Glu)
n.1831C>G
c.1099C>G (p.Gln367Glu)
c.34C>G (p.Gln12Glu)
n.929C>G
c.155C>G
c.1783C>G (p.Gln595Glu)
c.1603C>G (p.Gln535Glu)
c.1363C>G (p.Gln455Glu)
c.982C>G (p.Gln328Glu)
c.-20+15737C>G (n.-20+15737C>G)
c.2914C>G (p.Gln972Glu)
c.2734C>G (p.Gln912Glu)
n.2997C>G
6g.157148944C>TCA366389293ARID1Bc.3082C>T (p.Gln1028Ter)
c.2992C>T (p.Gln998Ter)
c.1096C>T (p.Gln366Ter)
c.3121C>T (p.Gln1041Ter)
c.2833C>T (p.Gln945Ter)
c.1240C>T (p.Gln414Ter)
n.983C>T
c.403C>T (p.Gln135Ter)
c.37C>T (p.Gln13Ter)
n.216C>T
c.321C>T
c.125C>T
c.583C>T (p.Gln195Ter)
c.2872C>T (p.Gln958Ter)
n.1831C>T
c.1099C>T (p.Gln367Ter)
c.34C>T (p.Gln12Ter)
n.929C>T
c.155C>T
c.1783C>T (p.Gln595Ter)
c.1603C>T (p.Gln535Ter)
c.1363C>T (p.Gln455Ter)
c.982C>T (p.Gln328Ter)
c.-20+15737C>T (n.-20+15737C>T)
c.2914C>T (p.Gln972Ter)
c.2734C>T (p.Gln912Ter)
n.2997C>T
dbSNP
6g.157148945A>CCA366389295ARID1Bc.3083A>C (p.Gln1028Pro)
c.2993A>C (p.Gln998Pro)
c.1097A>C (p.Gln366Pro)
c.3122A>C (p.Gln1041Pro)
c.2834A>C (p.Gln945Pro)
c.1241A>C (p.Gln414Pro)
n.984A>C
c.404A>C (p.Gln135Pro)
c.38A>C (p.Gln13Pro)
n.217A>C
c.322A>C
c.126A>C
c.584A>C (p.Gln195Pro)
c.2873A>C (p.Gln958Pro)
n.1832A>C
c.1100A>C (p.Gln367Pro)
c.35A>C (p.Gln12Pro)
n.930A>C
c.156A>C
c.1784A>C (p.Gln595Pro)
c.1604A>C (p.Gln535Pro)
c.1364A>C (p.Gln455Pro)
c.983A>C (p.Gln328Pro)
c.-20+15738A>C (n.-20+15738A>C)
c.2915A>C (p.Gln972Pro)
c.2735A>C (p.Gln912Pro)
n.2998A>C
6g.157148945A>GCA366389296ARID1Bc.3083A>G (p.Gln1028Arg)
c.2993A>G (p.Gln998Arg)
c.1097A>G (p.Gln366Arg)
c.3122A>G (p.Gln1041Arg)
c.2834A>G (p.Gln945Arg)
c.1241A>G (p.Gln414Arg)
n.984A>G
c.404A>G (p.Gln135Arg)
c.38A>G (p.Gln13Arg)
n.217A>G
c.322A>G
c.126A>G
c.584A>G (p.Gln195Arg)
c.2873A>G (p.Gln958Arg)
n.1832A>G
c.1100A>G (p.Gln367Arg)
c.35A>G (p.Gln12Arg)
n.930A>G
c.156A>G
c.1784A>G (p.Gln595Arg)
c.1604A>G (p.Gln535Arg)
c.1364A>G (p.Gln455Arg)
c.983A>G (p.Gln328Arg)
c.-20+15738A>G (n.-20+15738A>G)
c.2915A>G (p.Gln972Arg)
c.2735A>G (p.Gln912Arg)
n.2998A>G
6g.157148945A>TCA366389297ARID1Bc.3083A>T (p.Gln1028Leu)
c.2993A>T (p.Gln998Leu)
c.1097A>T (p.Gln366Leu)
c.3122A>T (p.Gln1041Leu)
c.2834A>T (p.Gln945Leu)
c.1241A>T (p.Gln414Leu)
n.984A>T
c.404A>T (p.Gln135Leu)
c.38A>T (p.Gln13Leu)
n.217A>T
c.322A>T
c.126A>T
c.584A>T (p.Gln195Leu)
c.2873A>T (p.Gln958Leu)
n.1832A>T
c.1100A>T (p.Gln367Leu)
c.35A>T (p.Gln12Leu)
n.930A>T
c.156A>T
c.1784A>T (p.Gln595Leu)
c.1604A>T (p.Gln535Leu)
c.1364A>T (p.Gln455Leu)
c.983A>T (p.Gln328Leu)
c.-20+15738A>T (n.-20+15738A>T)
c.2915A>T (p.Gln972Leu)
c.2735A>T (p.Gln912Leu)
n.2998A>T
6g.157148946A>CCA366389298ARID1Bc.3084A>C (p.Gln1028His)
c.2994A>C (p.Gln998His)
c.1098A>C (p.Gln366His)
c.3123A>C (p.Gln1041His)
c.2835A>C (p.Gln945His)
c.1242A>C (p.Gln414His)
n.985A>C
c.405A>C (p.Gln135His)
c.39A>C (p.Gln13His)
n.218A>C
c.323A>C
c.127A>C
c.585A>C (p.Gln195His)
c.2874A>C (p.Gln958His)
n.1833A>C
c.1101A>C (p.Gln367His)
c.36A>C (p.Gln12His)
n.931A>C
c.157A>C
c.1785A>C (p.Gln595His)
c.1605A>C (p.Gln535His)
c.1365A>C (p.Gln455His)
c.984A>C (p.Gln328His)
c.-20+15739A>C (n.-20+15739A>C)
c.2916A>C (p.Gln972His)
c.2736A>C (p.Gln912His)
n.2999A>C
6g.157148946A>GCA452990155ARID1Bc.3084A>G (p.Gln1028=)
c.2994A>G (p.Gln998=)
c.1098A>G (p.Gln366=)
c.3123A>G (p.Gln1041=)
c.2835A>G (p.Gln945=)
c.1242A>G (p.Gln414=)
n.985A>G
c.405A>G (p.Gln135=)
c.39A>G (p.Gln13=)
n.218A>G
c.323A>G
c.127A>G
c.585A>G (p.Gln195=)
c.2874A>G (p.Gln958=)
n.1833A>G
c.1101A>G (p.Gln367=)
c.36A>G (p.Gln12=)
n.931A>G
c.157A>G
c.1785A>G (p.Gln595=)
c.1605A>G (p.Gln535=)
c.1365A>G (p.Gln455=)
c.984A>G (p.Gln328=)
c.-20+15739A>G (n.-20+15739A>G)
c.2916A>G (p.Gln972=)
c.2736A>G (p.Gln912=)
n.2999A>G
6g.157148946A>TCA366389299ARID1Bc.3084A>T (p.Gln1028His)
c.2994A>T (p.Gln998His)
c.1098A>T (p.Gln366His)
c.3123A>T (p.Gln1041His)
c.2835A>T (p.Gln945His)
c.1242A>T (p.Gln414His)
n.985A>T
c.405A>T (p.Gln135His)
c.39A>T (p.Gln13His)
n.218A>T
c.323A>T
c.127A>T
c.585A>T (p.Gln195His)
c.2874A>T (p.Gln958His)
n.1833A>T
c.1101A>T (p.Gln367His)
c.36A>T (p.Gln12His)
n.931A>T
c.157A>T
c.1785A>T (p.Gln595His)
c.1605A>T (p.Gln535His)
c.1365A>T (p.Gln455His)
c.984A>T (p.Gln328His)
c.-20+15739A>T (n.-20+15739A>T)
c.2916A>T (p.Gln972His)
c.2736A>T (p.Gln912His)
n.2999A>T
6g.157148947A>CCA366389300ARID1Bc.3085A>C (p.Ser1029Arg)
c.2995A>C (p.Ser999Arg)
c.1099A>C (p.Ser367Arg)
c.3124A>C (p.Ser1042Arg)
c.2836A>C (p.Ser946Arg)
c.1243A>C (p.Ser415Arg)
n.986A>C
c.406A>C (p.Ser136Arg)
c.40A>C (p.Ser14Arg)
n.219A>C
c.324A>C
c.128A>C
c.586A>C (p.Ser196Arg)
c.2875A>C (p.Ser959Arg)
n.1834A>C
c.1102A>C (p.Ser368Arg)
c.37A>C (p.Ser13Arg)
n.932A>C
c.158A>C
c.1786A>C (p.Ser596Arg)
c.1606A>C (p.Ser536Arg)
c.1366A>C (p.Ser456Arg)
c.985A>C (p.Ser329Arg)
c.-20+15740A>C (n.-20+15740A>C)
c.2917A>C (p.Ser973Arg)
c.2737A>C (p.Ser913Arg)
n.3000A>C
6g.157148947A>GCA366389301ARID1Bc.3085A>G (p.Ser1029Gly)
c.2995A>G (p.Ser999Gly)
c.1099A>G (p.Ser367Gly)
c.3124A>G (p.Ser1042Gly)
c.2836A>G (p.Ser946Gly)
c.1243A>G (p.Ser415Gly)
n.986A>G
c.406A>G (p.Ser136Gly)
c.40A>G (p.Ser14Gly)
n.219A>G
c.324A>G
c.128A>G
c.586A>G (p.Ser196Gly)
c.2875A>G (p.Ser959Gly)
n.1834A>G
c.1102A>G (p.Ser368Gly)
c.37A>G (p.Ser13Gly)
n.932A>G
c.158A>G
c.1786A>G (p.Ser596Gly)
c.1606A>G (p.Ser536Gly)
c.1366A>G (p.Ser456Gly)
c.985A>G (p.Ser329Gly)
c.-20+15740A>G (n.-20+15740A>G)
c.2917A>G (p.Ser973Gly)
c.2737A>G (p.Ser913Gly)
n.3000A>G
6g.157148947A>TCA366389302ARID1Bc.3085A>T (p.Ser1029Cys)
c.2995A>T (p.Ser999Cys)
c.1099A>T (p.Ser367Cys)
c.3124A>T (p.Ser1042Cys)
c.2836A>T (p.Ser946Cys)
c.1243A>T (p.Ser415Cys)
n.986A>T
c.406A>T (p.Ser136Cys)
c.40A>T (p.Ser14Cys)
n.219A>T
c.324A>T
c.128A>T
c.586A>T (p.Ser196Cys)
c.2875A>T (p.Ser959Cys)
n.1834A>T
c.1102A>T (p.Ser368Cys)
c.37A>T (p.Ser13Cys)
n.932A>T
c.158A>T
c.1786A>T (p.Ser596Cys)
c.1606A>T (p.Ser536Cys)
c.1366A>T (p.Ser456Cys)
c.985A>T (p.Ser329Cys)
c.-20+15740A>T (n.-20+15740A>T)
c.2917A>T (p.Ser973Cys)
c.2737A>T (p.Ser913Cys)
n.3000A>T
6g.157148948G>ACA366389303ARID1Bc.3086G>A (p.Ser1029Asn)
c.2996G>A (p.Ser999Asn)
c.1100G>A (p.Ser367Asn)
c.3125G>A (p.Ser1042Asn)
c.2837G>A (p.Ser946Asn)
c.1244G>A (p.Ser415Asn)
n.987G>A
c.407G>A (p.Ser136Asn)
c.41G>A (p.Ser14Asn)
n.220G>A
c.325G>A
c.129G>A
c.587G>A (p.Ser196Asn)
c.2876G>A (p.Ser959Asn)
n.1835G>A
c.1103G>A (p.Ser368Asn)
c.38G>A (p.Ser13Asn)
n.933G>A
c.159G>A
c.1787G>A (p.Ser596Asn)
c.1607G>A (p.Ser536Asn)
c.1367G>A (p.Ser456Asn)
c.986G>A (p.Ser329Asn)
c.-20+15741G>A (n.-20+15741G>A)
c.2918G>A (p.Ser973Asn)
c.2738G>A (p.Ser913Asn)
n.3001G>A
6g.157148948G>CCA366389304ARID1Bc.3086G>C (p.Ser1029Thr)
c.2996G>C (p.Ser999Thr)
c.1100G>C (p.Ser367Thr)
c.3125G>C (p.Ser1042Thr)
c.2837G>C (p.Ser946Thr)
c.1244G>C (p.Ser415Thr)
n.987G>C
c.407G>C (p.Ser136Thr)
c.41G>C (p.Ser14Thr)
n.220G>C
c.325G>C
c.129G>C
c.587G>C (p.Ser196Thr)
c.2876G>C (p.Ser959Thr)
n.1835G>C
c.1103G>C (p.Ser368Thr)
c.38G>C (p.Ser13Thr)
n.933G>C
c.159G>C
c.1787G>C (p.Ser596Thr)
c.1607G>C (p.Ser536Thr)
c.1367G>C (p.Ser456Thr)
c.986G>C (p.Ser329Thr)
c.-20+15741G>C (n.-20+15741G>C)
c.2918G>C (p.Ser973Thr)
c.2738G>C (p.Ser913Thr)
n.3001G>C
6g.157148948G>TCA366389305ARID1Bc.3086G>T (p.Ser1029Ile)
c.2996G>T (p.Ser999Ile)
c.1100G>T (p.Ser367Ile)
c.3125G>T (p.Ser1042Ile)
c.2837G>T (p.Ser946Ile)
c.1244G>T (p.Ser415Ile)
n.987G>T
c.407G>T (p.Ser136Ile)
c.41G>T (p.Ser14Ile)
n.220G>T
c.325G>T
c.129G>T
c.587G>T (p.Ser196Ile)
c.2876G>T (p.Ser959Ile)
n.1835G>T
c.1103G>T (p.Ser368Ile)
c.38G>T (p.Ser13Ile)
n.933G>T
c.159G>T
c.1787G>T (p.Ser596Ile)
c.1607G>T (p.Ser536Ile)
c.1367G>T (p.Ser456Ile)
c.986G>T (p.Ser329Ile)
c.-20+15741G>T (n.-20+15741G>T)
c.2918G>T (p.Ser973Ile)
c.2738G>T (p.Ser913Ile)
n.3001G>T
6g.157148949delCA2695207306ARID1Bc.3087del (p.Ser1029ArgfsTer9)
c.2997del (p.Ser999ArgfsTer9)
c.3087del (p.Ser1029ArgfsTer?)
c.1101del (p.Ser367ArgfsTer9)
c.3126del (p.Ser1042ArgfsTer9)
c.2838del (p.Ser946ArgfsTer9)
c.1245del (p.Ser415ArgfsTer9)
n.988del
c.408del (p.Ser136ArgfsTer9)
c.42del (p.Ser14ArgfsTer9)
n.221del
c.326del
c.130del
c.588del (p.Ser196ArgfsTer9)
c.2877del (p.Ser959ArgfsTer9)
n.1836del
c.1104del (p.Ser368ArgfsTer9)
c.39del (p.Ser13ArgfsTer9)
n.934del
c.160del
c.1788del (p.Ser596ArgfsTer?)
c.1608del (p.Ser536ArgfsTer?)
c.1368del (p.Ser456ArgfsTer?)
c.987del (p.Ser329ArgfsTer?)
c.-20+15742del (n.-20+15742del)
c.2919del (p.Ser973ArgfsTer?)
c.2919del (p.Ser973ArgfsTer19)
c.2919del (p.Ser973ArgfsTer9)
c.2739del (p.Ser913ArgfsTer9)
n.3002del
6g.157148949C>ACA366389306ARID1Bc.3087C>A (p.Ser1029Arg)
c.2997C>A (p.Ser999Arg)
c.1101C>A (p.Ser367Arg)
c.3126C>A (p.Ser1042Arg)
c.2838C>A (p.Ser946Arg)
c.1245C>A (p.Ser415Arg)
n.988C>A
c.408C>A (p.Ser136Arg)
c.42C>A (p.Ser14Arg)
n.221C>A
c.326C>A
c.130C>A
c.588C>A (p.Ser196Arg)
c.2877C>A (p.Ser959Arg)
n.1836C>A
c.1104C>A (p.Ser368Arg)
c.39C>A (p.Ser13Arg)
n.934C>A
c.160C>A
c.1788C>A (p.Ser596Arg)
c.1608C>A (p.Ser536Arg)
c.1368C>A (p.Ser456Arg)
c.987C>A (p.Ser329Arg)
c.-20+15742C>A (n.-20+15742C>A)
c.2919C>A (p.Ser973Arg)
c.2739C>A (p.Ser913Arg)
n.3002C>A
gnomAD v4
6g.157148949C>GCA366389307ARID1Bc.3087C>G (p.Ser1029Arg)
c.2997C>G (p.Ser999Arg)
c.1101C>G (p.Ser367Arg)
c.3126C>G (p.Ser1042Arg)
c.2838C>G (p.Ser946Arg)
c.1245C>G (p.Ser415Arg)
n.988C>G
c.408C>G (p.Ser136Arg)
c.42C>G (p.Ser14Arg)
n.221C>G
c.326C>G
c.130C>G
c.588C>G (p.Ser196Arg)
c.2877C>G (p.Ser959Arg)
n.1836C>G
c.1104C>G (p.Ser368Arg)
c.39C>G (p.Ser13Arg)
n.934C>G
c.160C>G
c.1788C>G (p.Ser596Arg)
c.1608C>G (p.Ser536Arg)
c.1368C>G (p.Ser456Arg)
c.987C>G (p.Ser329Arg)
c.-20+15742C>G (n.-20+15742C>G)
c.2919C>G (p.Ser973Arg)
c.2739C>G (p.Ser913Arg)
n.3002C>G
6g.157148949C>TCA452990156ARID1Bc.3087C>T (p.Ser1029=)
c.2997C>T (p.Ser999=)
c.1101C>T (p.Ser367=)
c.3126C>T (p.Ser1042=)
c.2838C>T (p.Ser946=)
c.1245C>T (p.Ser415=)
n.988C>T
c.408C>T (p.Ser136=)
c.42C>T (p.Ser14=)
n.221C>T
c.326C>T
c.130C>T
c.588C>T (p.Ser196=)
c.2877C>T (p.Ser959=)
n.1836C>T
c.1104C>T (p.Ser368=)
c.39C>T (p.Ser13=)
n.934C>T
c.160C>T
c.1788C>T (p.Ser596=)
c.1608C>T (p.Ser536=)
c.1368C>T (p.Ser456=)
c.987C>T (p.Ser329=)
c.-20+15742C>T (n.-20+15742C>T)
c.2919C>T (p.Ser973=)
c.2739C>T (p.Ser913=)
n.3002C>T
6g.157148950A>CCA452990157ARID1Bc.3088A>C (p.Arg1030=)
c.2998A>C (p.Arg1000=)
c.1102A>C (p.Arg368=)
c.3127A>C (p.Arg1043=)
c.2839A>C (p.Arg947=)
c.1246A>C (p.Arg416=)
n.989A>C
c.409A>C (p.Arg137=)
c.43A>C (p.Arg15=)
n.222A>C
c.327A>C
c.131A>C
c.589A>C (p.Arg197=)
c.2878A>C (p.Arg960=)
n.1837A>C
c.1105A>C (p.Arg369=)
c.40A>C (p.Arg14=)
n.935A>C
c.161A>C
c.1789A>C (p.Arg597=)
c.1609A>C (p.Arg537=)
c.1369A>C (p.Arg457=)
c.988A>C (p.Arg330=)
c.-20+15743A>C (n.-20+15743A>C)
c.2920A>C (p.Arg974=)
c.2740A>C (p.Arg914=)
n.3003A>C
6g.157148950A>GCA366389308ARID1Bc.3088A>G (p.Arg1030Gly)
c.2998A>G (p.Arg1000Gly)
c.1102A>G (p.Arg368Gly)
c.3127A>G (p.Arg1043Gly)
c.2839A>G (p.Arg947Gly)
c.1246A>G (p.Arg416Gly)
n.989A>G
c.409A>G (p.Arg137Gly)
c.43A>G (p.Arg15Gly)
n.222A>G
c.327A>G
c.131A>G
c.589A>G (p.Arg197Gly)
c.2878A>G (p.Arg960Gly)
n.1837A>G
c.1105A>G (p.Arg369Gly)
c.40A>G (p.Arg14Gly)
n.935A>G
c.161A>G
c.1789A>G (p.Arg597Gly)
c.1609A>G (p.Arg537Gly)
c.1369A>G (p.Arg457Gly)
c.988A>G (p.Arg330Gly)
c.-20+15743A>G (n.-20+15743A>G)
c.2920A>G (p.Arg974Gly)
c.2740A>G (p.Arg914Gly)
n.3003A>G
6g.157148950A>TCA366389309ARID1Bc.3088A>T (p.Arg1030Trp)
c.2998A>T (p.Arg1000Trp)
c.1102A>T (p.Arg368Trp)
c.3127A>T (p.Arg1043Trp)
c.2839A>T (p.Arg947Trp)
c.1246A>T (p.Arg416Trp)
n.989A>T
c.409A>T (p.Arg137Trp)
c.43A>T (p.Arg15Trp)
n.222A>T
c.327A>T
c.131A>T
c.589A>T (p.Arg197Trp)
c.2878A>T (p.Arg960Trp)
n.1837A>T
c.1105A>T (p.Arg369Trp)
c.40A>T (p.Arg14Trp)
n.935A>T
c.161A>T
c.1789A>T (p.Arg597Trp)
c.1609A>T (p.Arg537Trp)
c.1369A>T (p.Arg457Trp)
c.988A>T (p.Arg330Trp)
c.-20+15743A>T (n.-20+15743A>T)
c.2920A>T (p.Arg974Trp)
c.2740A>T (p.Arg914Trp)
n.3003A>T
6g.157148951G>ACA366389310ARID1Bc.3089G>A (p.Arg1030Lys)
c.2999G>A (p.Arg1000Lys)
c.1103G>A (p.Arg368Lys)
c.3128G>A (p.Arg1043Lys)
c.2840G>A (p.Arg947Lys)
c.1247G>A (p.Arg416Lys)
n.990G>A
c.410G>A (p.Arg137Lys)
c.44G>A (p.Arg15Lys)
n.223G>A
c.328G>A
c.132G>A
c.590G>A (p.Arg197Lys)
c.2879G>A (p.Arg960Lys)
n.1838G>A
c.1106G>A (p.Arg369Lys)
c.41G>A (p.Arg14Lys)
n.936G>A
c.162G>A
c.1790G>A (p.Arg597Lys)
c.1610G>A (p.Arg537Lys)
c.1370G>A (p.Arg457Lys)
c.989G>A (p.Arg330Lys)
c.-20+15744G>A (n.-20+15744G>A)
c.2921G>A (p.Arg974Lys)
c.2741G>A (p.Arg914Lys)
n.3004G>A
dbSNP gnomAD v4
6g.157148951G>CCA366389311ARID1Bc.3089G>C (p.Arg1030Thr)
c.2999G>C (p.Arg1000Thr)
c.1103G>C (p.Arg368Thr)
c.3128G>C (p.Arg1043Thr)
c.2840G>C (p.Arg947Thr)
c.1247G>C (p.Arg416Thr)
n.990G>C
c.410G>C (p.Arg137Thr)
c.44G>C (p.Arg15Thr)
n.223G>C
c.328G>C
c.132G>C
c.590G>C (p.Arg197Thr)
c.2879G>C (p.Arg960Thr)
n.1838G>C
c.1106G>C (p.Arg369Thr)
c.41G>C (p.Arg14Thr)
n.936G>C
c.162G>C
c.1790G>C (p.Arg597Thr)
c.1610G>C (p.Arg537Thr)
c.1370G>C (p.Arg457Thr)
c.989G>C (p.Arg330Thr)
c.-20+15744G>C (n.-20+15744G>C)
c.2921G>C (p.Arg974Thr)
c.2741G>C (p.Arg914Thr)
n.3004G>C
6g.157148951G=CA1675517087ARID1Bc.3089G= (p.Arg1030=)
c.2999G= (p.Arg1000=)
c.1103G= (p.Arg368=)
c.3128G= (p.Arg1043=)
c.2840G= (p.Arg947=)
c.1247G= (p.Arg416=)
n.990G=
c.410G= (p.Arg137=)
c.44G= (p.Arg15=)
n.223G=
c.328G=
c.132G=
c.590G= (p.Arg197=)
c.2879G= (p.Arg960=)
n.1838G=
c.1106G= (p.Arg369=)
c.41G= (p.Arg14=)
n.936G=
c.162G=
c.1790G= (p.Arg597=)
c.1610G= (p.Arg537=)
c.1370G= (p.Arg457=)
c.989G= (p.Arg330=)
c.-20+15744G= (n.-20+15744G=)
c.2921G= (p.Arg974=)
c.2741G= (p.Arg914=)
n.3004G=
6g.157148951G>TCA366389312ARID1Bc.3089G>T (p.Arg1030Met)
c.2999G>T (p.Arg1000Met)
c.1103G>T (p.Arg368Met)
c.3128G>T (p.Arg1043Met)
c.2840G>T (p.Arg947Met)
c.1247G>T (p.Arg416Met)
n.990G>T
c.410G>T (p.Arg137Met)
c.44G>T (p.Arg15Met)
n.223G>T
c.328G>T
c.132G>T
c.590G>T (p.Arg197Met)
c.2879G>T (p.Arg960Met)
n.1838G>T
c.1106G>T (p.Arg369Met)
c.41G>T (p.Arg14Met)
n.936G>T
c.162G>T
c.1790G>T (p.Arg597Met)
c.1610G>T (p.Arg537Met)
c.1370G>T (p.Arg457Met)
c.989G>T (p.Arg330Met)
c.-20+15744G>T (n.-20+15744G>T)
c.2921G>T (p.Arg974Met)
c.2741G>T (p.Arg914Met)
n.3004G>T
6g.157148952G>ACA366389313ARID1Bc.3089+1G>A (n.3089+1G>A)
c.2999+1G>A (n.2999+1G>A)
c.1103+1G>A (n.1103+1G>A)
c.3128+1G>A (n.3128+1G>A)
c.2840+1G>A (n.2840+1G>A)
c.1247+1G>A (n.1247+1G>A)
n.991G>A
c.410+1G>A (n.410+1G>A)
c.44+1G>A (n.44+1G>A)
n.224G>A
c.328+1G>A
c.132+1G>A
c.590+1G>A (n.590+1G>A)
c.2879+1G>A (n.2879+1G>A)
n.1838+1G>A
c.1106+1G>A (n.1106+1G>A)
c.41+1G>A (n.41+1G>A)
n.937G>A
c.162+1G>A
c.1790+1G>A (n.1790+1G>A)
c.1610+1G>A (n.1610+1G>A)
c.1370+1G>A (n.1370+1G>A)
c.989+1G>A (n.989+1G>A)
c.-20+15745G>A (n.-20+15745G>A)
c.2921+1G>A (n.2921+1G>A)
c.2922G>A (p.Arg974=)
c.2741+1G>A (n.2741+1G>A)
n.3004+1G>A
dbSNP
6g.157148952G>CCA366389314ARID1Bc.3089+1G>C (n.3089+1G>C)
c.2999+1G>C (n.2999+1G>C)
c.1103+1G>C (n.1103+1G>C)
c.3128+1G>C (n.3128+1G>C)
c.2840+1G>C (n.2840+1G>C)
c.1247+1G>C (n.1247+1G>C)
n.991G>C
c.410+1G>C (n.410+1G>C)
c.44+1G>C (n.44+1G>C)
n.224G>C
c.328+1G>C
c.132+1G>C
c.590+1G>C (n.590+1G>C)
c.2879+1G>C (n.2879+1G>C)
n.1838+1G>C
c.1106+1G>C (n.1106+1G>C)
c.41+1G>C (n.41+1G>C)
n.937G>C
c.162+1G>C
c.1790+1G>C (n.1790+1G>C)
c.1610+1G>C (n.1610+1G>C)
c.1370+1G>C (n.1370+1G>C)
c.989+1G>C (n.989+1G>C)
c.-20+15745G>C (n.-20+15745G>C)
c.2921+1G>C (n.2921+1G>C)
c.2922G>C (p.Arg974Ser)
c.2741+1G>C (n.2741+1G>C)
n.3004+1G>C
6g.157148952G=CA1675517088ARID1Bc.3089+1G= (n.3089+1G=)
c.2999+1G= (n.2999+1G=)
c.1103+1G= (n.1103+1G=)
c.3128+1G= (n.3128+1G=)
c.2840+1G= (n.2840+1G=)
c.1247+1G= (n.1247+1G=)
n.991G=
c.410+1G= (n.410+1G=)
c.44+1G= (n.44+1G=)
n.224G=
c.328+1G=
c.132+1G=
c.590+1G= (n.590+1G=)
c.2879+1G= (n.2879+1G=)
n.1838+1G=
c.1106+1G= (n.1106+1G=)
c.41+1G= (n.41+1G=)
n.937G=
c.162+1G=
c.1790+1G= (n.1790+1G=)
c.1610+1G= (n.1610+1G=)
c.1370+1G= (n.1370+1G=)
c.989+1G= (n.989+1G=)
c.-20+15745G= (n.-20+15745G=)
c.2921+1G= (n.2921+1G=)
c.2922G= (p.Arg974=)
c.2741+1G= (n.2741+1G=)
n.3004+1G=
6g.157148952G>TCA366389315ARID1Bc.3089+1G>T (n.3089+1G>T)
c.2999+1G>T (n.2999+1G>T)
c.1103+1G>T (n.1103+1G>T)
c.3128+1G>T (n.3128+1G>T)
c.2840+1G>T (n.2840+1G>T)
c.1247+1G>T (n.1247+1G>T)
n.991G>T
c.410+1G>T (n.410+1G>T)
c.44+1G>T (n.44+1G>T)
n.224G>T
c.328+1G>T
c.132+1G>T
c.590+1G>T (n.590+1G>T)
c.2879+1G>T (n.2879+1G>T)
n.1838+1G>T
c.1106+1G>T (n.1106+1G>T)
c.41+1G>T (n.41+1G>T)
n.937G>T
c.162+1G>T
c.1790+1G>T (n.1790+1G>T)
c.1610+1G>T (n.1610+1G>T)
c.1370+1G>T (n.1370+1G>T)
c.989+1G>T (n.989+1G>T)
c.-20+15745G>T (n.-20+15745G>T)
c.2921+1G>T (n.2921+1G>T)
c.2922G>T (p.Arg974Ser)
c.2741+1G>T (n.2741+1G>T)
n.3004+1G>T
dbSNP gnomAD v2
6g.157148953_157148956dupCA1675517089ARID1Bc.3089+2_3089+5dup (n.3089+2_3089+5dup)
c.2999+2_2999+5dup (n.2999+2_2999+5dup)
c.1103+2_1103+5dup (n.1103+2_1103+5dup)
c.3128+2_3128+5dup (n.3128+2_3128+5dup)
c.2840+2_2840+5dup (n.2840+2_2840+5dup)
c.1247+2_1247+5dup (n.1247+2_1247+5dup)
n.992_995dup
c.410+2_410+5dup (n.410+2_410+5dup)
c.44+2_44+5dup (n.44+2_44+5dup)
n.225_228dup
c.328+2_328+5dup
c.132+2_132+5dup
c.590+2_590+5dup (n.590+2_590+5dup)
c.2879+2_2879+5dup (n.2879+2_2879+5dup)
n.1838+2_1838+5dup
c.1106+2_1106+5dup (n.1106+2_1106+5dup)
c.41+2_41+5dup (n.41+2_41+5dup)
n.938_941dup
c.162+2_162+5dup
c.1790+2_1790+5dup (n.1790+2_1790+5dup)
c.1610+2_1610+5dup (n.1610+2_1610+5dup)
c.1370+2_1370+5dup (n.1370+2_1370+5dup)
c.989+2_989+5dup (n.989+2_989+5dup)
c.-20+15746_-20+15749dup (n.-20+15746_-20+15749dup)
c.2921+2_2921+5dup (n.2921+2_2921+5dup)
c.2923_2926dup (p.Ala976ValfsTer?)
c.2741+2_2741+5dup (n.2741+2_2741+5dup)
n.3004+2_3004+5dup
dbSNP gnomAD v4
6g.157148953T>ACA366389316ARID1Bc.3089+2T>A (n.3089+2T>A)
c.2999+2T>A (n.2999+2T>A)
c.1103+2T>A (n.1103+2T>A)
c.3128+2T>A (n.3128+2T>A)
c.2840+2T>A (n.2840+2T>A)
c.1247+2T>A (n.1247+2T>A)
n.992T>A
c.410+2T>A (n.410+2T>A)
c.44+2T>A (n.44+2T>A)
n.225T>A
c.328+2T>A
c.132+2T>A
c.590+2T>A (n.590+2T>A)
c.2879+2T>A (n.2879+2T>A)
n.1838+2T>A
c.1106+2T>A (n.1106+2T>A)
c.41+2T>A (n.41+2T>A)
n.938T>A
c.162+2T>A
c.1790+2T>A (n.1790+2T>A)
c.1610+2T>A (n.1610+2T>A)
c.1370+2T>A (n.1370+2T>A)
c.989+2T>A (n.989+2T>A)
c.-20+15746T>A (n.-20+15746T>A)
c.2921+2T>A (n.2921+2T>A)
c.2923T>A (p.Tyr975Asn)
c.2741+2T>A (n.2741+2T>A)
n.3004+2T>A
6g.157148953T>CCA16042556ARID1Bc.3089+2T>C (n.3089+2T>C)
c.2999+2T>C (n.2999+2T>C)
c.1103+2T>C (n.1103+2T>C)
c.3128+2T>C (n.3128+2T>C)
c.2840+2T>C (n.2840+2T>C)
c.1247+2T>C (n.1247+2T>C)
n.992T>C
c.410+2T>C (n.410+2T>C)
c.44+2T>C (n.44+2T>C)
n.225T>C
c.328+2T>C
c.132+2T>C
c.590+2T>C (n.590+2T>C)
c.2879+2T>C (n.2879+2T>C)
n.1838+2T>C
c.1106+2T>C (n.1106+2T>C)
c.41+2T>C (n.41+2T>C)
n.938T>C
c.162+2T>C
c.1790+2T>C (n.1790+2T>C)
c.1610+2T>C (n.1610+2T>C)
c.1370+2T>C (n.1370+2T>C)
c.989+2T>C (n.989+2T>C)
c.-20+15746T>C (n.-20+15746T>C)
c.2921+2T>C (n.2921+2T>C)
c.2923T>C (p.Tyr975His)
c.2741+2T>C (n.2741+2T>C)
n.3004+2T>C
ClinVar dbSNP
6g.157148953T>GCA366389317ARID1Bc.3089+2T>G (n.3089+2T>G)
c.2999+2T>G (n.2999+2T>G)
c.1103+2T>G (n.1103+2T>G)
c.3128+2T>G (n.3128+2T>G)
c.2840+2T>G (n.2840+2T>G)
c.1247+2T>G (n.1247+2T>G)
n.992T>G
c.410+2T>G (n.410+2T>G)
c.44+2T>G (n.44+2T>G)
n.225T>G
c.328+2T>G
c.132+2T>G
c.590+2T>G (n.590+2T>G)
c.2879+2T>G (n.2879+2T>G)
n.1838+2T>G
c.1106+2T>G (n.1106+2T>G)
c.41+2T>G (n.41+2T>G)
n.938T>G
c.162+2T>G
c.1790+2T>G (n.1790+2T>G)
c.1610+2T>G (n.1610+2T>G)
c.1370+2T>G (n.1370+2T>G)
c.989+2T>G (n.989+2T>G)
c.-20+15746T>G (n.-20+15746T>G)
c.2921+2T>G (n.2921+2T>G)
c.2923T>G (p.Tyr975Asp)
c.2741+2T>G (n.2741+2T>G)
n.3004+2T>G
6g.157148953T=CA1675517090ARID1Bc.3089+2T= (n.3089+2T=)
c.2999+2T= (n.2999+2T=)
c.1103+2T= (n.1103+2T=)
c.3128+2T= (n.3128+2T=)
c.2840+2T= (n.2840+2T=)
c.1247+2T= (n.1247+2T=)
n.992T=
c.410+2T= (n.410+2T=)
c.44+2T= (n.44+2T=)
n.225T=
c.328+2T=
c.132+2T=
c.590+2T= (n.590+2T=)
c.2879+2T= (n.2879+2T=)
n.1838+2T=
c.1106+2T= (n.1106+2T=)
c.41+2T= (n.41+2T=)
n.938T=
c.162+2T=
c.1790+2T= (n.1790+2T=)
c.1610+2T= (n.1610+2T=)
c.1370+2T= (n.1370+2T=)
c.989+2T= (n.989+2T=)
c.-20+15746T= (n.-20+15746T=)
c.2921+2T= (n.2921+2T=)
c.2923T= (p.Tyr975=)
c.2741+2T= (n.2741+2T=)
n.3004+2T=
6g.157148955_157148956insCTACCA2740091535ARID1Bc.3089+4_3089+5insCTAC (n.3089+4_3089+5insCTAC)
c.2999+4_2999+5insCTAC (n.2999+4_2999+5insCTAC)
c.1103+4_1103+5insCTAC (n.1103+4_1103+5insCTAC)
c.3128+4_3128+5insCTAC (n.3128+4_3128+5insCTAC)
c.2840+4_2840+5insCTAC (n.2840+4_2840+5insCTAC)
c.1247+4_1247+5insCTAC (n.1247+4_1247+5insCTAC)
n.994_995insCTAC
c.410+4_410+5insCTAC (n.410+4_410+5insCTAC)
c.44+4_44+5insCTAC (n.44+4_44+5insCTAC)
n.227_228insCTAC
c.328+4_328+5insCTAC
c.132+4_132+5insCTAC
c.590+4_590+5insCTAC (n.590+4_590+5insCTAC)
c.2879+4_2879+5insCTAC (n.2879+4_2879+5insCTAC)
n.1838+4_1838+5insCTAC
c.1106+4_1106+5insCTAC (n.1106+4_1106+5insCTAC)
c.41+4_41+5insCTAC (n.41+4_41+5insCTAC)
n.940_941insCTAC
c.162+4_162+5insCTAC
c.1790+4_1790+5insCTAC (n.1790+4_1790+5insCTAC)
c.1610+4_1610+5insCTAC (n.1610+4_1610+5insCTAC)
c.1370+4_1370+5insCTAC (n.1370+4_1370+5insCTAC)
c.989+4_989+5insCTAC (n.989+4_989+5insCTAC)
c.-20+15748_-20+15749insCTAC (n.-20+15748_-20+15749insCTAC)
c.2921+4_2921+5insCTAC (n.2921+4_2921+5insCTAC)
c.2925_2926insCTAC (p.Ala976LeufsTer?)
c.2741+4_2741+5insCTAC (n.2741+4_2741+5insCTAC)
n.3004+4_3004+5insCTAC
ClinVar
6g.157148954A>CCA2739898432ARID1Bc.3089+3A>C (n.3089+3A>C)
c.2999+3A>C (n.2999+3A>C)
c.1103+3A>C (n.1103+3A>C)
c.3128+3A>C (n.3128+3A>C)
c.2840+3A>C (n.2840+3A>C)
c.1247+3A>C (n.1247+3A>C)
n.993A>C
c.410+3A>C (n.410+3A>C)
c.44+3A>C (n.44+3A>C)
n.226A>C
c.328+3A>C
c.132+3A>C
c.590+3A>C (n.590+3A>C)
c.2879+3A>C (n.2879+3A>C)
n.1838+3A>C
c.1106+3A>C (n.1106+3A>C)
c.41+3A>C (n.41+3A>C)
n.939A>C
c.162+3A>C
c.1790+3A>C (n.1790+3A>C)
c.1610+3A>C (n.1610+3A>C)
c.1370+3A>C (n.1370+3A>C)
c.989+3A>C (n.989+3A>C)
c.-20+15747A>C (n.-20+15747A>C)
c.2921+3A>C (n.2921+3A>C)
c.2924A>C (p.Tyr975Ser)
c.2741+3A>C (n.2741+3A>C)
n.3004+3A>C
6g.157148954A>GCA2739898434ARID1Bc.3089+3A>G (n.3089+3A>G)
c.2999+3A>G (n.2999+3A>G)
c.1103+3A>G (n.1103+3A>G)
c.3128+3A>G (n.3128+3A>G)
c.2840+3A>G (n.2840+3A>G)
c.1247+3A>G (n.1247+3A>G)
n.993A>G
c.410+3A>G (n.410+3A>G)
c.44+3A>G (n.44+3A>G)
n.226A>G
c.328+3A>G
c.132+3A>G
c.590+3A>G (n.590+3A>G)
c.2879+3A>G (n.2879+3A>G)
n.1838+3A>G
c.1106+3A>G (n.1106+3A>G)
c.41+3A>G (n.41+3A>G)
n.939A>G
c.162+3A>G
c.1790+3A>G (n.1790+3A>G)
c.1610+3A>G (n.1610+3A>G)
c.1370+3A>G (n.1370+3A>G)
c.989+3A>G (n.989+3A>G)
c.-20+15747A>G (n.-20+15747A>G)
c.2921+3A>G (n.2921+3A>G)
c.2924A>G (p.Tyr975Cys)
c.2741+3A>G (n.2741+3A>G)
n.3004+3A>G
6g.157148954A>TCA2739898433ARID1Bc.3089+3A>T (n.3089+3A>T)
c.2999+3A>T (n.2999+3A>T)
c.1103+3A>T (n.1103+3A>T)
c.3128+3A>T (n.3128+3A>T)
c.2840+3A>T (n.2840+3A>T)
c.1247+3A>T (n.1247+3A>T)
n.993A>T
c.410+3A>T (n.410+3A>T)
c.44+3A>T (n.44+3A>T)
n.226A>T
c.328+3A>T
c.132+3A>T
c.590+3A>T (n.590+3A>T)
c.2879+3A>T (n.2879+3A>T)
n.1838+3A>T
c.1106+3A>T (n.1106+3A>T)
c.41+3A>T (n.41+3A>T)
n.939A>T
c.162+3A>T
c.1790+3A>T (n.1790+3A>T)
c.1610+3A>T (n.1610+3A>T)
c.1370+3A>T (n.1370+3A>T)
c.989+3A>T (n.989+3A>T)
c.-20+15747A>T (n.-20+15747A>T)
c.2921+3A>T (n.2921+3A>T)
c.2924A>T (p.Tyr975Phe)
c.2741+3A>T (n.2741+3A>T)
n.3004+3A>T
6g.157148955C>ACA821328880ARID1Bc.3089+4C>A (n.3089+4C>A)
c.2999+4C>A (n.2999+4C>A)
c.1103+4C>A (n.1103+4C>A)
c.3128+4C>A (n.3128+4C>A)
c.2840+4C>A (n.2840+4C>A)
c.1247+4C>A (n.1247+4C>A)
n.994C>A
c.410+4C>A (n.410+4C>A)
c.44+4C>A (n.44+4C>A)
n.227C>A
c.328+4C>A
c.132+4C>A
c.590+4C>A (n.590+4C>A)
c.2879+4C>A (n.2879+4C>A)
n.1838+4C>A
c.1106+4C>A (n.1106+4C>A)
c.41+4C>A (n.41+4C>A)
n.940C>A
c.162+4C>A
c.1790+4C>A (n.1790+4C>A)
c.1610+4C>A (n.1610+4C>A)
c.1370+4C>A (n.1370+4C>A)
c.989+4C>A (n.989+4C>A)
c.-20+15748C>A (n.-20+15748C>A)
c.2921+4C>A (n.2921+4C>A)
c.2925C>A (p.Tyr975Ter)
c.2741+4C>A (n.2741+4C>A)
n.3004+4C>A
dbSNP gnomAD v4
6g.157148955C=CA1675517091ARID1Bc.3089+4C= (n.3089+4C=)
c.2999+4C= (n.2999+4C=)
c.1103+4C= (n.1103+4C=)
c.3128+4C= (n.3128+4C=)
c.2840+4C= (n.2840+4C=)
c.1247+4C= (n.1247+4C=)
n.994C=
c.410+4C= (n.410+4C=)
c.44+4C= (n.44+4C=)
n.227C=
c.328+4C=
c.132+4C=
c.590+4C= (n.590+4C=)
c.2879+4C= (n.2879+4C=)
n.1838+4C=
c.1106+4C= (n.1106+4C=)
c.41+4C= (n.41+4C=)
n.940C=
c.162+4C=
c.1790+4C= (n.1790+4C=)
c.1610+4C= (n.1610+4C=)
c.1370+4C= (n.1370+4C=)
c.989+4C= (n.989+4C=)
c.-20+15748C= (n.-20+15748C=)
c.2921+4C= (n.2921+4C=)
c.2925C= (p.Tyr975=)
c.2741+4C= (n.2741+4C=)
n.3004+4C=
6g.157148955C>GCA4067186ARID1Bc.3089+4C>G (n.3089+4C>G)
c.2999+4C>G (n.2999+4C>G)
c.1103+4C>G (n.1103+4C>G)
c.3128+4C>G (n.3128+4C>G)
c.2840+4C>G (n.2840+4C>G)
c.1247+4C>G (n.1247+4C>G)
n.994C>G
c.410+4C>G (n.410+4C>G)
c.44+4C>G (n.44+4C>G)
n.227C>G
c.328+4C>G
c.132+4C>G
c.590+4C>G (n.590+4C>G)
c.2879+4C>G (n.2879+4C>G)
n.1838+4C>G
c.1106+4C>G (n.1106+4C>G)
c.41+4C>G (n.41+4C>G)
n.940C>G
c.162+4C>G
c.1790+4C>G (n.1790+4C>G)
c.1610+4C>G (n.1610+4C>G)
c.1370+4C>G (n.1370+4C>G)
c.989+4C>G (n.989+4C>G)
c.-20+15748C>G (n.-20+15748C>G)
c.2921+4C>G (n.2921+4C>G)
c.2925C>G (p.Tyr975Ter)
c.2741+4C>G (n.2741+4C>G)
n.3004+4C>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.157148955C>TCA4067185ARID1Bc.3089+4C>T (n.3089+4C>T)
c.2999+4C>T (n.2999+4C>T)
c.1103+4C>T (n.1103+4C>T)
c.3128+4C>T (n.3128+4C>T)
c.2840+4C>T (n.2840+4C>T)
c.1247+4C>T (n.1247+4C>T)
n.994C>T
c.410+4C>T (n.410+4C>T)
c.44+4C>T (n.44+4C>T)
n.227C>T
c.328+4C>T
c.132+4C>T
c.590+4C>T (n.590+4C>T)
c.2879+4C>T (n.2879+4C>T)
n.1838+4C>T
c.1106+4C>T (n.1106+4C>T)
c.41+4C>T (n.41+4C>T)
n.940C>T
c.162+4C>T
c.1790+4C>T (n.1790+4C>T)
c.1610+4C>T (n.1610+4C>T)
c.1370+4C>T (n.1370+4C>T)
c.989+4C>T (n.989+4C>T)
c.-20+15748C>T (n.-20+15748C>T)
c.2921+4C>T (n.2921+4C>T)
c.2925C>T (p.Tyr975=)
c.2741+4C>T (n.2741+4C>T)
n.3004+4C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched