Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.157201014C>ACA150370075ARID1Bc.4630C>A (p.Pro1544Thr)
c.4699C>A (p.Pro1567Thr)
c.4918C>A (p.Pro1640Thr)
c.4669C>A (p.Pro1557Thr)
c.4381C>A (p.Pro1461Thr)
c.2947C>A (p.Pro983Thr)
c.2110C>A (p.Pro704Thr)
c.1741C>A (p.Pro581Thr)
n.3252C>A
n.709C>A
c.4789C>A (p.Pro1597Thr)
n.2786C>A
c.2157C>A
c.2071C>A
n.1455C>A
c.2131C>A (p.Pro711Thr)
c.2290C>A (p.Pro764Thr)
c.4420C>A (p.Pro1474Thr)
c.4540C>A (p.Pro1514Thr)
c.3619C>A (p.Pro1207Thr)
c.3439C>A (p.Pro1147Thr)
c.3199C>A (p.Pro1067Thr)
c.2818C>A (p.Pro940Thr)
c.1681C>A (p.Pro561Thr)
c.4750C>A (p.Pro1584Thr)
c.4651C>A (p.Pro1551Thr)
c.4621C>A (p.Pro1541Thr)
c.4591C>A (p.Pro1531Thr)
c.4462C>A (p.Pro1488Thr)
c.4441C>A (p.Pro1481Thr)
n.4736C>A
ClinVar dbSNP gnomAD v2 gnomAD v4
6g.157201014C=CA1675522810ARID1Bc.4630C= (p.Pro1544=)
c.4699C= (p.Pro1567=)
c.4918C= (p.Pro1640=)
c.4669C= (p.Pro1557=)
c.4381C= (p.Pro1461=)
c.2947C= (p.Pro983=)
c.2110C= (p.Pro704=)
c.1741C= (p.Pro581=)
n.3252C=
n.709C=
c.4789C= (p.Pro1597=)
n.2786C=
c.2157C=
c.2071C=
n.1455C=
c.2131C= (p.Pro711=)
c.2290C= (p.Pro764=)
c.4420C= (p.Pro1474=)
c.4540C= (p.Pro1514=)
c.3619C= (p.Pro1207=)
c.3439C= (p.Pro1147=)
c.3199C= (p.Pro1067=)
c.2818C= (p.Pro940=)
c.1681C= (p.Pro561=)
c.4750C= (p.Pro1584=)
c.4651C= (p.Pro1551=)
c.4621C= (p.Pro1541=)
c.4591C= (p.Pro1531=)
c.4462C= (p.Pro1488=)
c.4441C= (p.Pro1481=)
n.4736C=
6g.157201014C>GCA366241504ARID1Bc.4630C>G (p.Pro1544Ala)
c.4699C>G (p.Pro1567Ala)
c.4918C>G (p.Pro1640Ala)
c.4669C>G (p.Pro1557Ala)
c.4381C>G (p.Pro1461Ala)
c.2947C>G (p.Pro983Ala)
c.2110C>G (p.Pro704Ala)
c.1741C>G (p.Pro581Ala)
n.3252C>G
n.709C>G
c.4789C>G (p.Pro1597Ala)
n.2786C>G
c.2157C>G
c.2071C>G
n.1455C>G
c.2131C>G (p.Pro711Ala)
c.2290C>G (p.Pro764Ala)
c.4420C>G (p.Pro1474Ala)
c.4540C>G (p.Pro1514Ala)
c.3619C>G (p.Pro1207Ala)
c.3439C>G (p.Pro1147Ala)
c.3199C>G (p.Pro1067Ala)
c.2818C>G (p.Pro940Ala)
c.1681C>G (p.Pro561Ala)
c.4750C>G (p.Pro1584Ala)
c.4651C>G (p.Pro1551Ala)
c.4621C>G (p.Pro1541Ala)
c.4591C>G (p.Pro1531Ala)
c.4462C>G (p.Pro1488Ala)
c.4441C>G (p.Pro1481Ala)
n.4736C>G
6g.157201014C>TCA366241506ARID1Bc.4630C>T (p.Pro1544Ser)
c.4699C>T (p.Pro1567Ser)
c.4918C>T (p.Pro1640Ser)
c.4669C>T (p.Pro1557Ser)
c.4381C>T (p.Pro1461Ser)
c.2947C>T (p.Pro983Ser)
c.2110C>T (p.Pro704Ser)
c.1741C>T (p.Pro581Ser)
n.3252C>T
n.709C>T
c.4789C>T (p.Pro1597Ser)
n.2786C>T
c.2157C>T
c.2071C>T
n.1455C>T
c.2131C>T (p.Pro711Ser)
c.2290C>T (p.Pro764Ser)
c.4420C>T (p.Pro1474Ser)
c.4540C>T (p.Pro1514Ser)
c.3619C>T (p.Pro1207Ser)
c.3439C>T (p.Pro1147Ser)
c.3199C>T (p.Pro1067Ser)
c.2818C>T (p.Pro940Ser)
c.1681C>T (p.Pro561Ser)
c.4750C>T (p.Pro1584Ser)
c.4651C>T (p.Pro1551Ser)
c.4621C>T (p.Pro1541Ser)
c.4591C>T (p.Pro1531Ser)
c.4462C>T (p.Pro1488Ser)
c.4441C>T (p.Pro1481Ser)
n.4736C>T
dbSNP gnomAD v3 gnomAD v4
6g.157201016dupCA2695207268ARID1Bc.4632dup (p.Tyr1545LeufsTer?)
c.4701dup (p.Tyr1568LeufsTer?)
c.4920dup (p.Tyr1641LeufsTer?)
c.4671dup (p.Tyr1558LeufsTer?)
c.4383dup (p.Tyr1462LeufsTer?)
c.2949dup (p.Tyr984LeufsTer?)
c.2112dup (p.Tyr705LeufsTer?)
c.1743dup (p.Tyr582LeufsTer?)
n.3254dup
n.711dup
c.4791dup (p.Tyr1598LeufsTer?)
n.2788dup
c.2159dup
c.2073dup
n.1457dup
c.2133dup (p.Tyr712LeufsTer?)
c.2292dup (p.Tyr765LeufsTer?)
c.4422dup (p.Tyr1475LeufsTer?)
c.4542dup (p.Tyr1515LeufsTer?)
c.3621dup (p.Tyr1208LeufsTer?)
c.3441dup (p.Tyr1148LeufsTer?)
c.3201dup (p.Tyr1068LeufsTer?)
c.2820dup (p.Tyr941LeufsTer?)
c.1683dup (p.Tyr562LeufsTer?)
c.4752dup (p.Tyr1585LeufsTer?)
c.4653dup (p.Tyr1552LeufsTer?)
c.4623dup (p.Tyr1542LeufsTer?)
c.4593dup (p.Tyr1532LeufsTer?)
c.4464dup (p.Tyr1489LeufsTer?)
c.4443dup (p.Tyr1482LeufsTer?)
n.4738dup
6g.157201014_157201032delCA2739289476ARID1Bc.4630_4648del (p.Pro1544AlafsTer14)
c.4699_4717del (p.Pro1567AlafsTer14)
c.4918_4936del (p.Pro1640AlafsTer14)
c.4669_4687del (p.Pro1557AlafsTer14)
c.4381_4399del (p.Pro1461AlafsTer14)
c.2947_2965del (p.Pro983AlafsTer14)
c.2110_2128del (p.Pro704AlafsTer14)
c.1741_1759del (p.Pro581AlafsTer14)
n.3252_3270del
n.709_727del
c.4789_4807del (p.Pro1597AlafsTer14)
n.2786_2804del
c.2157_2175del
c.2071_2089del
n.1455_1473del
c.2131_2149del (p.Pro711AlafsTer14)
c.2290_2308del (p.Pro764AlafsTer14)
c.4420_4438del (p.Pro1474AlafsTer14)
c.4540_4558del (p.Pro1514AlafsTer14)
c.3619_3637del (p.Pro1207AlafsTer14)
c.3439_3457del (p.Pro1147AlafsTer14)
c.3199_3217del (p.Pro1067AlafsTer14)
c.2818_2836del (p.Pro940AlafsTer14)
c.1681_1699del (p.Pro561AlafsTer14)
c.4750_4768del (p.Pro1584AlafsTer14)
c.4651_4669del (p.Pro1551AlafsTer14)
c.4621_4639del (p.Pro1541AlafsTer14)
c.4591_4609del (p.Pro1531AlafsTer14)
c.4462_4480del (p.Pro1488AlafsTer14)
c.4441_4459del (p.Pro1481AlafsTer14)
n.4736_4754del
6g.157201015C>ACA366241507ARID1Bc.4631C>A (p.Pro1544His)
c.4700C>A (p.Pro1567His)
c.4919C>A (p.Pro1640His)
c.4670C>A (p.Pro1557His)
c.4382C>A (p.Pro1461His)
c.2948C>A (p.Pro983His)
c.2111C>A (p.Pro704His)
c.1742C>A (p.Pro581His)
n.3253C>A
n.710C>A
c.4790C>A (p.Pro1597His)
n.2787C>A
c.2158C>A
c.2072C>A
n.1456C>A
c.2132C>A (p.Pro711His)
c.2291C>A (p.Pro764His)
c.4421C>A (p.Pro1474His)
c.4541C>A (p.Pro1514His)
c.3620C>A (p.Pro1207His)
c.3440C>A (p.Pro1147His)
c.3200C>A (p.Pro1067His)
c.2819C>A (p.Pro940His)
c.1682C>A (p.Pro561His)
c.4751C>A (p.Pro1584His)
c.4652C>A (p.Pro1551His)
c.4622C>A (p.Pro1541His)
c.4592C>A (p.Pro1531His)
c.4463C>A (p.Pro1488His)
c.4442C>A (p.Pro1481His)
n.4737C>A
6g.157201015C>GCA366241509ARID1Bc.4631C>G (p.Pro1544Arg)
c.4700C>G (p.Pro1567Arg)
c.4919C>G (p.Pro1640Arg)
c.4670C>G (p.Pro1557Arg)
c.4382C>G (p.Pro1461Arg)
c.2948C>G (p.Pro983Arg)
c.2111C>G (p.Pro704Arg)
c.1742C>G (p.Pro581Arg)
n.3253C>G
n.710C>G
c.4790C>G (p.Pro1597Arg)
n.2787C>G
c.2158C>G
c.2072C>G
n.1456C>G
c.2132C>G (p.Pro711Arg)
c.2291C>G (p.Pro764Arg)
c.4421C>G (p.Pro1474Arg)
c.4541C>G (p.Pro1514Arg)
c.3620C>G (p.Pro1207Arg)
c.3440C>G (p.Pro1147Arg)
c.3200C>G (p.Pro1067Arg)
c.2819C>G (p.Pro940Arg)
c.1682C>G (p.Pro561Arg)
c.4751C>G (p.Pro1584Arg)
c.4652C>G (p.Pro1551Arg)
c.4622C>G (p.Pro1541Arg)
c.4592C>G (p.Pro1531Arg)
c.4463C>G (p.Pro1488Arg)
c.4442C>G (p.Pro1481Arg)
n.4737C>G
6g.157201015C>TCA366241512ARID1Bc.4631C>T (p.Pro1544Leu)
c.4700C>T (p.Pro1567Leu)
c.4919C>T (p.Pro1640Leu)
c.4670C>T (p.Pro1557Leu)
c.4382C>T (p.Pro1461Leu)
c.2948C>T (p.Pro983Leu)
c.2111C>T (p.Pro704Leu)
c.1742C>T (p.Pro581Leu)
n.3253C>T
n.710C>T
c.4790C>T (p.Pro1597Leu)
n.2787C>T
c.2158C>T
c.2072C>T
n.1456C>T
c.2132C>T (p.Pro711Leu)
c.2291C>T (p.Pro764Leu)
c.4421C>T (p.Pro1474Leu)
c.4541C>T (p.Pro1514Leu)
c.3620C>T (p.Pro1207Leu)
c.3440C>T (p.Pro1147Leu)
c.3200C>T (p.Pro1067Leu)
c.2819C>T (p.Pro940Leu)
c.1682C>T (p.Pro561Leu)
c.4751C>T (p.Pro1584Leu)
c.4652C>T (p.Pro1551Leu)
c.4622C>T (p.Pro1541Leu)
c.4592C>T (p.Pro1531Leu)
c.4463C>T (p.Pro1488Leu)
c.4442C>T (p.Pro1481Leu)
n.4737C>T
6g.157201016C>ACA452978352ARID1Bc.4632C>A (p.Pro1544=)
c.4701C>A (p.Pro1567=)
c.4920C>A (p.Pro1640=)
c.4671C>A (p.Pro1557=)
c.4383C>A (p.Pro1461=)
c.2949C>A (p.Pro983=)
c.2112C>A (p.Pro704=)
c.1743C>A (p.Pro581=)
n.3254C>A
n.711C>A
c.4791C>A (p.Pro1597=)
n.2788C>A
c.2159C>A
c.2073C>A
n.1457C>A
c.2133C>A (p.Pro711=)
c.2292C>A (p.Pro764=)
c.4422C>A (p.Pro1474=)
c.4542C>A (p.Pro1514=)
c.3621C>A (p.Pro1207=)
c.3441C>A (p.Pro1147=)
c.3201C>A (p.Pro1067=)
c.2820C>A (p.Pro940=)
c.1683C>A (p.Pro561=)
c.4752C>A (p.Pro1584=)
c.4653C>A (p.Pro1551=)
c.4623C>A (p.Pro1541=)
c.4593C>A (p.Pro1531=)
c.4464C>A (p.Pro1488=)
c.4443C>A (p.Pro1481=)
n.4738C>A
6g.157201016C>GCA452978353ARID1Bc.4632C>G (p.Pro1544=)
c.4701C>G (p.Pro1567=)
c.4920C>G (p.Pro1640=)
c.4671C>G (p.Pro1557=)
c.4383C>G (p.Pro1461=)
c.2949C>G (p.Pro983=)
c.2112C>G (p.Pro704=)
c.1743C>G (p.Pro581=)
n.3254C>G
n.711C>G
c.4791C>G (p.Pro1597=)
n.2788C>G
c.2159C>G
c.2073C>G
n.1457C>G
c.2133C>G (p.Pro711=)
c.2292C>G (p.Pro764=)
c.4422C>G (p.Pro1474=)
c.4542C>G (p.Pro1514=)
c.3621C>G (p.Pro1207=)
c.3441C>G (p.Pro1147=)
c.3201C>G (p.Pro1067=)
c.2820C>G (p.Pro940=)
c.1683C>G (p.Pro561=)
c.4752C>G (p.Pro1584=)
c.4653C>G (p.Pro1551=)
c.4623C>G (p.Pro1541=)
c.4593C>G (p.Pro1531=)
c.4464C>G (p.Pro1488=)
c.4443C>G (p.Pro1481=)
n.4738C>G
6g.157201016C>TCA452978354ARID1Bc.4632C>T (p.Pro1544=)
c.4701C>T (p.Pro1567=)
c.4920C>T (p.Pro1640=)
c.4671C>T (p.Pro1557=)
c.4383C>T (p.Pro1461=)
c.2949C>T (p.Pro983=)
c.2112C>T (p.Pro704=)
c.1743C>T (p.Pro581=)
n.3254C>T
n.711C>T
c.4791C>T (p.Pro1597=)
n.2788C>T
c.2159C>T
c.2073C>T
n.1457C>T
c.2133C>T (p.Pro711=)
c.2292C>T (p.Pro764=)
c.4422C>T (p.Pro1474=)
c.4542C>T (p.Pro1514=)
c.3621C>T (p.Pro1207=)
c.3441C>T (p.Pro1147=)
c.3201C>T (p.Pro1067=)
c.2820C>T (p.Pro940=)
c.1683C>T (p.Pro561=)
c.4752C>T (p.Pro1584=)
c.4653C>T (p.Pro1551=)
c.4623C>T (p.Pro1541=)
c.4593C>T (p.Pro1531=)
c.4464C>T (p.Pro1488=)
c.4443C>T (p.Pro1481=)
n.4738C>T
6g.157201017T>ACA366241515ARID1Bc.4633T>A (p.Tyr1545Asn)
c.4702T>A (p.Tyr1568Asn)
c.4921T>A (p.Tyr1641Asn)
c.4672T>A (p.Tyr1558Asn)
c.4384T>A (p.Tyr1462Asn)
c.2950T>A (p.Tyr984Asn)
c.2113T>A (p.Tyr705Asn)
c.1744T>A (p.Tyr582Asn)
n.3255T>A
n.712T>A
c.4792T>A (p.Tyr1598Asn)
n.2789T>A
c.2160T>A
c.2074T>A
n.1458T>A
c.2134T>A (p.Tyr712Asn)
c.2293T>A (p.Tyr765Asn)
c.4423T>A (p.Tyr1475Asn)
c.4543T>A (p.Tyr1515Asn)
c.3622T>A (p.Tyr1208Asn)
c.3442T>A (p.Tyr1148Asn)
c.3202T>A (p.Tyr1068Asn)
c.2821T>A (p.Tyr941Asn)
c.1684T>A (p.Tyr562Asn)
c.4753T>A (p.Tyr1585Asn)
c.4654T>A (p.Tyr1552Asn)
c.4624T>A (p.Tyr1542Asn)
c.4594T>A (p.Tyr1532Asn)
c.4465T>A (p.Tyr1489Asn)
c.4444T>A (p.Tyr1482Asn)
n.4739T>A
6g.157201017T>CCA366241520ARID1Bc.4633T>C (p.Tyr1545His)
c.4702T>C (p.Tyr1568His)
c.4921T>C (p.Tyr1641His)
c.4672T>C (p.Tyr1558His)
c.4384T>C (p.Tyr1462His)
c.2950T>C (p.Tyr984His)
c.2113T>C (p.Tyr705His)
c.1744T>C (p.Tyr582His)
n.3255T>C
n.712T>C
c.4792T>C (p.Tyr1598His)
n.2789T>C
c.2160T>C
c.2074T>C
n.1458T>C
c.2134T>C (p.Tyr712His)
c.2293T>C (p.Tyr765His)
c.4423T>C (p.Tyr1475His)
c.4543T>C (p.Tyr1515His)
c.3622T>C (p.Tyr1208His)
c.3442T>C (p.Tyr1148His)
c.3202T>C (p.Tyr1068His)
c.2821T>C (p.Tyr941His)
c.1684T>C (p.Tyr562His)
c.4753T>C (p.Tyr1585His)
c.4654T>C (p.Tyr1552His)
c.4624T>C (p.Tyr1542His)
c.4594T>C (p.Tyr1532His)
c.4465T>C (p.Tyr1489His)
c.4444T>C (p.Tyr1482His)
n.4739T>C
6g.157201017T>GCA366241517ARID1Bc.4633T>G (p.Tyr1545Asp)
c.4702T>G (p.Tyr1568Asp)
c.4921T>G (p.Tyr1641Asp)
c.4672T>G (p.Tyr1558Asp)
c.4384T>G (p.Tyr1462Asp)
c.2950T>G (p.Tyr984Asp)
c.2113T>G (p.Tyr705Asp)
c.1744T>G (p.Tyr582Asp)
n.3255T>G
n.712T>G
c.4792T>G (p.Tyr1598Asp)
n.2789T>G
c.2160T>G
c.2074T>G
n.1458T>G
c.2134T>G (p.Tyr712Asp)
c.2293T>G (p.Tyr765Asp)
c.4423T>G (p.Tyr1475Asp)
c.4543T>G (p.Tyr1515Asp)
c.3622T>G (p.Tyr1208Asp)
c.3442T>G (p.Tyr1148Asp)
c.3202T>G (p.Tyr1068Asp)
c.2821T>G (p.Tyr941Asp)
c.1684T>G (p.Tyr562Asp)
c.4753T>G (p.Tyr1585Asp)
c.4654T>G (p.Tyr1552Asp)
c.4624T>G (p.Tyr1542Asp)
c.4594T>G (p.Tyr1532Asp)
c.4465T>G (p.Tyr1489Asp)
c.4444T>G (p.Tyr1482Asp)
n.4739T>G
6g.157201018A=CA1675522811ARID1Bc.4634A= (p.Tyr1545=)
c.4703A= (p.Tyr1568=)
c.4922A= (p.Tyr1641=)
c.4673A= (p.Tyr1558=)
c.4385A= (p.Tyr1462=)
c.2951A= (p.Tyr984=)
c.2114A= (p.Tyr705=)
c.1745A= (p.Tyr582=)
n.3256A=
n.713A=
c.4793A= (p.Tyr1598=)
n.2790A=
c.2161A=
c.2075A=
n.1459A=
c.2135A= (p.Tyr712=)
c.2294A= (p.Tyr765=)
c.4424A= (p.Tyr1475=)
c.4544A= (p.Tyr1515=)
c.3623A= (p.Tyr1208=)
c.3443A= (p.Tyr1148=)
c.3203A= (p.Tyr1068=)
c.2822A= (p.Tyr941=)
c.1685A= (p.Tyr562=)
c.4754A= (p.Tyr1585=)
c.4655A= (p.Tyr1552=)
c.4625A= (p.Tyr1542=)
c.4595A= (p.Tyr1532=)
c.4466A= (p.Tyr1489=)
c.4445A= (p.Tyr1482=)
n.4740A=
6g.157201018A>CCA366241522ARID1Bc.4634A>C (p.Tyr1545Ser)
c.4703A>C (p.Tyr1568Ser)
c.4922A>C (p.Tyr1641Ser)
c.4673A>C (p.Tyr1558Ser)
c.4385A>C (p.Tyr1462Ser)
c.2951A>C (p.Tyr984Ser)
c.2114A>C (p.Tyr705Ser)
c.1745A>C (p.Tyr582Ser)
n.3256A>C
n.713A>C
c.4793A>C (p.Tyr1598Ser)
n.2790A>C
c.2161A>C
c.2075A>C
n.1459A>C
c.2135A>C (p.Tyr712Ser)
c.2294A>C (p.Tyr765Ser)
c.4424A>C (p.Tyr1475Ser)
c.4544A>C (p.Tyr1515Ser)
c.3623A>C (p.Tyr1208Ser)
c.3443A>C (p.Tyr1148Ser)
c.3203A>C (p.Tyr1068Ser)
c.2822A>C (p.Tyr941Ser)
c.1685A>C (p.Tyr562Ser)
c.4754A>C (p.Tyr1585Ser)
c.4655A>C (p.Tyr1552Ser)
c.4625A>C (p.Tyr1542Ser)
c.4595A>C (p.Tyr1532Ser)
c.4466A>C (p.Tyr1489Ser)
c.4445A>C (p.Tyr1482Ser)
n.4740A>C
6g.157201018A>GCA4067710ARID1Bc.4634A>G (p.Tyr1545Cys)
c.4703A>G (p.Tyr1568Cys)
c.4922A>G (p.Tyr1641Cys)
c.4673A>G (p.Tyr1558Cys)
c.4385A>G (p.Tyr1462Cys)
c.2951A>G (p.Tyr984Cys)
c.2114A>G (p.Tyr705Cys)
c.1745A>G (p.Tyr582Cys)
n.3256A>G
n.713A>G
c.4793A>G (p.Tyr1598Cys)
n.2790A>G
c.2161A>G
c.2075A>G
n.1459A>G
c.2135A>G (p.Tyr712Cys)
c.2294A>G (p.Tyr765Cys)
c.4424A>G (p.Tyr1475Cys)
c.4544A>G (p.Tyr1515Cys)
c.3623A>G (p.Tyr1208Cys)
c.3443A>G (p.Tyr1148Cys)
c.3203A>G (p.Tyr1068Cys)
c.2822A>G (p.Tyr941Cys)
c.1685A>G (p.Tyr562Cys)
c.4754A>G (p.Tyr1585Cys)
c.4655A>G (p.Tyr1552Cys)
c.4625A>G (p.Tyr1542Cys)
c.4595A>G (p.Tyr1532Cys)
c.4466A>G (p.Tyr1489Cys)
c.4445A>G (p.Tyr1482Cys)
n.4740A>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.157201018A>TCA366241526ARID1Bc.4634A>T (p.Tyr1545Phe)
c.4703A>T (p.Tyr1568Phe)
c.4922A>T (p.Tyr1641Phe)
c.4673A>T (p.Tyr1558Phe)
c.4385A>T (p.Tyr1462Phe)
c.2951A>T (p.Tyr984Phe)
c.2114A>T (p.Tyr705Phe)
c.1745A>T (p.Tyr582Phe)
n.3256A>T
n.713A>T
c.4793A>T (p.Tyr1598Phe)
n.2790A>T
c.2161A>T
c.2075A>T
n.1459A>T
c.2135A>T (p.Tyr712Phe)
c.2294A>T (p.Tyr765Phe)
c.4424A>T (p.Tyr1475Phe)
c.4544A>T (p.Tyr1515Phe)
c.3623A>T (p.Tyr1208Phe)
c.3443A>T (p.Tyr1148Phe)
c.3203A>T (p.Tyr1068Phe)
c.2822A>T (p.Tyr941Phe)
c.1685A>T (p.Tyr562Phe)
c.4754A>T (p.Tyr1585Phe)
c.4655A>T (p.Tyr1552Phe)
c.4625A>T (p.Tyr1542Phe)
c.4595A>T (p.Tyr1532Phe)
c.4466A>T (p.Tyr1489Phe)
c.4445A>T (p.Tyr1482Phe)
n.4740A>T
6g.157201019C>ACA366241529ARID1Bc.4635C>A (p.Tyr1545Ter)
c.4704C>A (p.Tyr1568Ter)
c.4923C>A (p.Tyr1641Ter)
c.4674C>A (p.Tyr1558Ter)
c.4386C>A (p.Tyr1462Ter)
c.2952C>A (p.Tyr984Ter)
c.2115C>A (p.Tyr705Ter)
c.1746C>A (p.Tyr582Ter)
n.3257C>A
n.714C>A
c.4794C>A (p.Tyr1598Ter)
n.2791C>A
c.2162C>A
c.2076C>A
n.1460C>A
c.2136C>A (p.Tyr712Ter)
c.2295C>A (p.Tyr765Ter)
c.4425C>A (p.Tyr1475Ter)
c.4545C>A (p.Tyr1515Ter)
c.3624C>A (p.Tyr1208Ter)
c.3444C>A (p.Tyr1148Ter)
c.3204C>A (p.Tyr1068Ter)
c.2823C>A (p.Tyr941Ter)
c.1686C>A (p.Tyr562Ter)
c.4755C>A (p.Tyr1585Ter)
c.4656C>A (p.Tyr1552Ter)
c.4626C>A (p.Tyr1542Ter)
c.4596C>A (p.Tyr1532Ter)
c.4467C>A (p.Tyr1489Ter)
c.4446C>A (p.Tyr1482Ter)
n.4741C>A
ClinVar dbSNP
6g.157201019C=CA1675522812ARID1Bc.4635C= (p.Tyr1545=)
c.4704C= (p.Tyr1568=)
c.4923C= (p.Tyr1641=)
c.4674C= (p.Tyr1558=)
c.4386C= (p.Tyr1462=)
c.2952C= (p.Tyr984=)
c.2115C= (p.Tyr705=)
c.1746C= (p.Tyr582=)
n.3257C=
n.714C=
c.4794C= (p.Tyr1598=)
n.2791C=
c.2162C=
c.2076C=
n.1460C=
c.2136C= (p.Tyr712=)
c.2295C= (p.Tyr765=)
c.4425C= (p.Tyr1475=)
c.4545C= (p.Tyr1515=)
c.3624C= (p.Tyr1208=)
c.3444C= (p.Tyr1148=)
c.3204C= (p.Tyr1068=)
c.2823C= (p.Tyr941=)
c.1686C= (p.Tyr562=)
c.4755C= (p.Tyr1585=)
c.4656C= (p.Tyr1552=)
c.4626C= (p.Tyr1542=)
c.4596C= (p.Tyr1532=)
c.4467C= (p.Tyr1489=)
c.4446C= (p.Tyr1482=)
n.4741C=
6g.157201019C>GCA366241531ARID1Bc.4635C>G (p.Tyr1545Ter)
c.4704C>G (p.Tyr1568Ter)
c.4923C>G (p.Tyr1641Ter)
c.4674C>G (p.Tyr1558Ter)
c.4386C>G (p.Tyr1462Ter)
c.2952C>G (p.Tyr984Ter)
c.2115C>G (p.Tyr705Ter)
c.1746C>G (p.Tyr582Ter)
n.3257C>G
n.714C>G
c.4794C>G (p.Tyr1598Ter)
n.2791C>G
c.2162C>G
c.2076C>G
n.1460C>G
c.2136C>G (p.Tyr712Ter)
c.2295C>G (p.Tyr765Ter)
c.4425C>G (p.Tyr1475Ter)
c.4545C>G (p.Tyr1515Ter)
c.3624C>G (p.Tyr1208Ter)
c.3444C>G (p.Tyr1148Ter)
c.3204C>G (p.Tyr1068Ter)
c.2823C>G (p.Tyr941Ter)
c.1686C>G (p.Tyr562Ter)
c.4755C>G (p.Tyr1585Ter)
c.4656C>G (p.Tyr1552Ter)
c.4626C>G (p.Tyr1542Ter)
c.4596C>G (p.Tyr1532Ter)
c.4467C>G (p.Tyr1489Ter)
c.4446C>G (p.Tyr1482Ter)
n.4741C>G
ClinVar dbSNP
6g.157201019C>TCA452978359ARID1Bc.4635C>T (p.Tyr1545=)
c.4704C>T (p.Tyr1568=)
c.4923C>T (p.Tyr1641=)
c.4674C>T (p.Tyr1558=)
c.4386C>T (p.Tyr1462=)
c.2952C>T (p.Tyr984=)
c.2115C>T (p.Tyr705=)
c.1746C>T (p.Tyr582=)
n.3257C>T
n.714C>T
c.4794C>T (p.Tyr1598=)
n.2791C>T
c.2162C>T
c.2076C>T
n.1460C>T
c.2136C>T (p.Tyr712=)
c.2295C>T (p.Tyr765=)
c.4425C>T (p.Tyr1475=)
c.4545C>T (p.Tyr1515=)
c.3624C>T (p.Tyr1208=)
c.3444C>T (p.Tyr1148=)
c.3204C>T (p.Tyr1068=)
c.2823C>T (p.Tyr941=)
c.1686C>T (p.Tyr562=)
c.4755C>T (p.Tyr1585=)
c.4656C>T (p.Tyr1552=)
c.4626C>T (p.Tyr1542=)
c.4596C>T (p.Tyr1532=)
c.4467C>T (p.Tyr1489=)
c.4446C>T (p.Tyr1482=)
n.4741C>T
gnomAD v4
6g.157201020C>ACA366241534ARID1Bc.4636C>A (p.Gln1546Lys)
c.4705C>A (p.Gln1569Lys)
c.4924C>A (p.Gln1642Lys)
c.4675C>A (p.Gln1559Lys)
c.4387C>A (p.Gln1463Lys)
c.2953C>A (p.Gln985Lys)
c.2116C>A (p.Gln706Lys)
c.1747C>A (p.Gln583Lys)
n.3258C>A
n.715C>A
c.4795C>A (p.Gln1599Lys)
n.2792C>A
c.2163C>A
c.2077C>A
n.1461C>A
c.2137C>A (p.Gln713Lys)
c.2296C>A (p.Gln766Lys)
c.4426C>A (p.Gln1476Lys)
c.4546C>A (p.Gln1516Lys)
c.3625C>A (p.Gln1209Lys)
c.3445C>A (p.Gln1149Lys)
c.3205C>A (p.Gln1069Lys)
c.2824C>A (p.Gln942Lys)
c.1687C>A (p.Gln563Lys)
c.4756C>A (p.Gln1586Lys)
c.4657C>A (p.Gln1553Lys)
c.4627C>A (p.Gln1543Lys)
c.4597C>A (p.Gln1533Lys)
c.4468C>A (p.Gln1490Lys)
c.4447C>A (p.Gln1483Lys)
n.4742C>A
6g.157201020C>GCA366241536ARID1Bc.4636C>G (p.Gln1546Glu)
c.4705C>G (p.Gln1569Glu)
c.4924C>G (p.Gln1642Glu)
c.4675C>G (p.Gln1559Glu)
c.4387C>G (p.Gln1463Glu)
c.2953C>G (p.Gln985Glu)
c.2116C>G (p.Gln706Glu)
c.1747C>G (p.Gln583Glu)
n.3258C>G
n.715C>G
c.4795C>G (p.Gln1599Glu)
n.2792C>G
c.2163C>G
c.2077C>G
n.1461C>G
c.2137C>G (p.Gln713Glu)
c.2296C>G (p.Gln766Glu)
c.4426C>G (p.Gln1476Glu)
c.4546C>G (p.Gln1516Glu)
c.3625C>G (p.Gln1209Glu)
c.3445C>G (p.Gln1149Glu)
c.3205C>G (p.Gln1069Glu)
c.2824C>G (p.Gln942Glu)
c.1687C>G (p.Gln563Glu)
c.4756C>G (p.Gln1586Glu)
c.4657C>G (p.Gln1553Glu)
c.4627C>G (p.Gln1543Glu)
c.4597C>G (p.Gln1533Glu)
c.4468C>G (p.Gln1490Glu)
c.4447C>G (p.Gln1483Glu)
n.4742C>G
6g.157201020C>TCA366241538ARID1Bc.4636C>T (p.Gln1546Ter)
c.4705C>T (p.Gln1569Ter)
c.4924C>T (p.Gln1642Ter)
c.4675C>T (p.Gln1559Ter)
c.4387C>T (p.Gln1463Ter)
c.2953C>T (p.Gln985Ter)
c.2116C>T (p.Gln706Ter)
c.1747C>T (p.Gln583Ter)
n.3258C>T
n.715C>T
c.4795C>T (p.Gln1599Ter)
n.2792C>T
c.2163C>T
c.2077C>T
n.1461C>T
c.2137C>T (p.Gln713Ter)
c.2296C>T (p.Gln766Ter)
c.4426C>T (p.Gln1476Ter)
c.4546C>T (p.Gln1516Ter)
c.3625C>T (p.Gln1209Ter)
c.3445C>T (p.Gln1149Ter)
c.3205C>T (p.Gln1069Ter)
c.2824C>T (p.Gln942Ter)
c.1687C>T (p.Gln563Ter)
c.4756C>T (p.Gln1586Ter)
c.4657C>T (p.Gln1553Ter)
c.4627C>T (p.Gln1543Ter)
c.4597C>T (p.Gln1533Ter)
c.4468C>T (p.Gln1490Ter)
c.4447C>T (p.Gln1483Ter)
n.4742C>T
ClinVar
6g.157201021A>CCA366241542ARID1Bc.4637A>C (p.Gln1546Pro)
c.4706A>C (p.Gln1569Pro)
c.4925A>C (p.Gln1642Pro)
c.4676A>C (p.Gln1559Pro)
c.4388A>C (p.Gln1463Pro)
c.2954A>C (p.Gln985Pro)
c.2117A>C (p.Gln706Pro)
c.1748A>C (p.Gln583Pro)
n.3259A>C
n.716A>C
c.4796A>C (p.Gln1599Pro)
n.2793A>C
c.2164A>C
c.2078A>C
n.1462A>C
c.2138A>C (p.Gln713Pro)
c.2297A>C (p.Gln766Pro)
c.4427A>C (p.Gln1476Pro)
c.4547A>C (p.Gln1516Pro)
c.3626A>C (p.Gln1209Pro)
c.3446A>C (p.Gln1149Pro)
c.3206A>C (p.Gln1069Pro)
c.2825A>C (p.Gln942Pro)
c.1688A>C (p.Gln563Pro)
c.4757A>C (p.Gln1586Pro)
c.4658A>C (p.Gln1553Pro)
c.4628A>C (p.Gln1543Pro)
c.4598A>C (p.Gln1533Pro)
c.4469A>C (p.Gln1490Pro)
c.4448A>C (p.Gln1483Pro)
n.4743A>C
6g.157201021A>GCA366241544ARID1Bc.4637A>G (p.Gln1546Arg)
c.4706A>G (p.Gln1569Arg)
c.4925A>G (p.Gln1642Arg)
c.4676A>G (p.Gln1559Arg)
c.4388A>G (p.Gln1463Arg)
c.2954A>G (p.Gln985Arg)
c.2117A>G (p.Gln706Arg)
c.1748A>G (p.Gln583Arg)
n.3259A>G
n.716A>G
c.4796A>G (p.Gln1599Arg)
n.2793A>G
c.2164A>G
c.2078A>G
n.1462A>G
c.2138A>G (p.Gln713Arg)
c.2297A>G (p.Gln766Arg)
c.4427A>G (p.Gln1476Arg)
c.4547A>G (p.Gln1516Arg)
c.3626A>G (p.Gln1209Arg)
c.3446A>G (p.Gln1149Arg)
c.3206A>G (p.Gln1069Arg)
c.2825A>G (p.Gln942Arg)
c.1688A>G (p.Gln563Arg)
c.4757A>G (p.Gln1586Arg)
c.4658A>G (p.Gln1553Arg)
c.4628A>G (p.Gln1543Arg)
c.4598A>G (p.Gln1533Arg)
c.4469A>G (p.Gln1490Arg)
c.4448A>G (p.Gln1483Arg)
n.4743A>G
6g.157201021A>TCA366241547ARID1Bc.4637A>T (p.Gln1546Leu)
c.4706A>T (p.Gln1569Leu)
c.4925A>T (p.Gln1642Leu)
c.4676A>T (p.Gln1559Leu)
c.4388A>T (p.Gln1463Leu)
c.2954A>T (p.Gln985Leu)
c.2117A>T (p.Gln706Leu)
c.1748A>T (p.Gln583Leu)
n.3259A>T
n.716A>T
c.4796A>T (p.Gln1599Leu)
n.2793A>T
c.2164A>T
c.2078A>T
n.1462A>T
c.2138A>T (p.Gln713Leu)
c.2297A>T (p.Gln766Leu)
c.4427A>T (p.Gln1476Leu)
c.4547A>T (p.Gln1516Leu)
c.3626A>T (p.Gln1209Leu)
c.3446A>T (p.Gln1149Leu)
c.3206A>T (p.Gln1069Leu)
c.2825A>T (p.Gln942Leu)
c.1688A>T (p.Gln563Leu)
c.4757A>T (p.Gln1586Leu)
c.4658A>T (p.Gln1553Leu)
c.4628A>T (p.Gln1543Leu)
c.4598A>T (p.Gln1533Leu)
c.4469A>T (p.Gln1490Leu)
c.4448A>T (p.Gln1483Leu)
n.4743A>T
6g.157201022G>ACA4067711ARID1Bc.4638G>A (p.Gln1546=)
c.4707G>A (p.Gln1569=)
c.4926G>A (p.Gln1642=)
c.4677G>A (p.Gln1559=)
c.4389G>A (p.Gln1463=)
c.2955G>A (p.Gln985=)
c.2118G>A (p.Gln706=)
c.1749G>A (p.Gln583=)
n.3260G>A
n.717G>A
c.4797G>A (p.Gln1599=)
n.2794G>A
c.2165G>A
c.2079G>A
n.1463G>A
c.2139G>A (p.Gln713=)
c.2298G>A (p.Gln766=)
c.4428G>A (p.Gln1476=)
c.4548G>A (p.Gln1516=)
c.3627G>A (p.Gln1209=)
c.3447G>A (p.Gln1149=)
c.3207G>A (p.Gln1069=)
c.2826G>A (p.Gln942=)
c.1689G>A (p.Gln563=)
c.4758G>A (p.Gln1586=)
c.4659G>A (p.Gln1553=)
c.4629G>A (p.Gln1543=)
c.4599G>A (p.Gln1533=)
c.4470G>A (p.Gln1490=)
c.4449G>A (p.Gln1483=)
n.4744G>A
dbSNP ExAC gnomAD v2 gnomAD v4
6g.157201022G>CCA366241555ARID1Bc.4638G>C (p.Gln1546His)
c.4707G>C (p.Gln1569His)
c.4926G>C (p.Gln1642His)
c.4677G>C (p.Gln1559His)
c.4389G>C (p.Gln1463His)
c.2955G>C (p.Gln985His)
c.2118G>C (p.Gln706His)
c.1749G>C (p.Gln583His)
n.3260G>C
n.717G>C
c.4797G>C (p.Gln1599His)
n.2794G>C
c.2165G>C
c.2079G>C
n.1463G>C
c.2139G>C (p.Gln713His)
c.2298G>C (p.Gln766His)
c.4428G>C (p.Gln1476His)
c.4548G>C (p.Gln1516His)
c.3627G>C (p.Gln1209His)
c.3447G>C (p.Gln1149His)
c.3207G>C (p.Gln1069His)
c.2826G>C (p.Gln942His)
c.1689G>C (p.Gln563His)
c.4758G>C (p.Gln1586His)
c.4659G>C (p.Gln1553His)
c.4629G>C (p.Gln1543His)
c.4599G>C (p.Gln1533His)
c.4470G>C (p.Gln1490His)
c.4449G>C (p.Gln1483His)
n.4744G>C
6g.157201022G=CA1675522814ARID1Bc.4638G= (p.Gln1546=)
c.4707G= (p.Gln1569=)
c.4926G= (p.Gln1642=)
c.4677G= (p.Gln1559=)
c.4389G= (p.Gln1463=)
c.2955G= (p.Gln985=)
c.2118G= (p.Gln706=)
c.1749G= (p.Gln583=)
n.3260G=
n.717G=
c.4797G= (p.Gln1599=)
n.2794G=
c.2165G=
c.2079G=
n.1463G=
c.2139G= (p.Gln713=)
c.2298G= (p.Gln766=)
c.4428G= (p.Gln1476=)
c.4548G= (p.Gln1516=)
c.3627G= (p.Gln1209=)
c.3447G= (p.Gln1149=)
c.3207G= (p.Gln1069=)
c.2826G= (p.Gln942=)
c.1689G= (p.Gln563=)
c.4758G= (p.Gln1586=)
c.4659G= (p.Gln1553=)
c.4629G= (p.Gln1543=)
c.4599G= (p.Gln1533=)
c.4470G= (p.Gln1490=)
c.4449G= (p.Gln1483=)
n.4744G=
6g.157201022G>TCA366241552ARID1Bc.4638G>T (p.Gln1546His)
c.4707G>T (p.Gln1569His)
c.4926G>T (p.Gln1642His)
c.4677G>T (p.Gln1559His)
c.4389G>T (p.Gln1463His)
c.2955G>T (p.Gln985His)
c.2118G>T (p.Gln706His)
c.1749G>T (p.Gln583His)
n.3260G>T
n.717G>T
c.4797G>T (p.Gln1599His)
n.2794G>T
c.2165G>T
c.2079G>T
n.1463G>T
c.2139G>T (p.Gln713His)
c.2298G>T (p.Gln766His)
c.4428G>T (p.Gln1476His)
c.4548G>T (p.Gln1516His)
c.3627G>T (p.Gln1209His)
c.3447G>T (p.Gln1149His)
c.3207G>T (p.Gln1069His)
c.2826G>T (p.Gln942His)
c.1689G>T (p.Gln563His)
c.4758G>T (p.Gln1586His)
c.4659G>T (p.Gln1553His)
c.4629G>T (p.Gln1543His)
c.4599G>T (p.Gln1533His)
c.4470G>T (p.Gln1490His)
c.4449G>T (p.Gln1483His)
n.4744G>T
6g.157201023A>CCA366241557ARID1Bc.4639A>C (p.Asn1547His)
c.4708A>C (p.Asn1570His)
c.4927A>C (p.Asn1643His)
c.4678A>C (p.Asn1560His)
c.4390A>C (p.Asn1464His)
c.2956A>C (p.Asn986His)
c.2119A>C (p.Asn707His)
c.1750A>C (p.Asn584His)
n.3261A>C
n.718A>C
c.4798A>C (p.Asn1600His)
n.2795A>C
c.2166A>C
c.2080A>C
n.1464A>C
c.2140A>C (p.Asn714His)
c.2299A>C (p.Asn767His)
c.4429A>C (p.Asn1477His)
c.4549A>C (p.Asn1517His)
c.3628A>C (p.Asn1210His)
c.3448A>C (p.Asn1150His)
c.3208A>C (p.Asn1070His)
c.2827A>C (p.Asn943His)
c.1690A>C (p.Asn564His)
c.4759A>C (p.Asn1587His)
c.4660A>C (p.Asn1554His)
c.4630A>C (p.Asn1544His)
c.4600A>C (p.Asn1534His)
c.4471A>C (p.Asn1491His)
c.4450A>C (p.Asn1484His)
n.4745A>C
6g.157201023A>GCA366241560ARID1Bc.4639A>G (p.Asn1547Asp)
c.4708A>G (p.Asn1570Asp)
c.4927A>G (p.Asn1643Asp)
c.4678A>G (p.Asn1560Asp)
c.4390A>G (p.Asn1464Asp)
c.2956A>G (p.Asn986Asp)
c.2119A>G (p.Asn707Asp)
c.1750A>G (p.Asn584Asp)
n.3261A>G
n.718A>G
c.4798A>G (p.Asn1600Asp)
n.2795A>G
c.2166A>G
c.2080A>G
n.1464A>G
c.2140A>G (p.Asn714Asp)
c.2299A>G (p.Asn767Asp)
c.4429A>G (p.Asn1477Asp)
c.4549A>G (p.Asn1517Asp)
c.3628A>G (p.Asn1210Asp)
c.3448A>G (p.Asn1150Asp)
c.3208A>G (p.Asn1070Asp)
c.2827A>G (p.Asn943Asp)
c.1690A>G (p.Asn564Asp)
c.4759A>G (p.Asn1587Asp)
c.4660A>G (p.Asn1554Asp)
c.4630A>G (p.Asn1544Asp)
c.4600A>G (p.Asn1534Asp)
c.4471A>G (p.Asn1491Asp)
c.4450A>G (p.Asn1484Asp)
n.4745A>G
6g.157201023A>TCA366241562ARID1Bc.4639A>T (p.Asn1547Tyr)
c.4708A>T (p.Asn1570Tyr)
c.4927A>T (p.Asn1643Tyr)
c.4678A>T (p.Asn1560Tyr)
c.4390A>T (p.Asn1464Tyr)
c.2956A>T (p.Asn986Tyr)
c.2119A>T (p.Asn707Tyr)
c.1750A>T (p.Asn584Tyr)
n.3261A>T
n.718A>T
c.4798A>T (p.Asn1600Tyr)
n.2795A>T
c.2166A>T
c.2080A>T
n.1464A>T
c.2140A>T (p.Asn714Tyr)
c.2299A>T (p.Asn767Tyr)
c.4429A>T (p.Asn1477Tyr)
c.4549A>T (p.Asn1517Tyr)
c.3628A>T (p.Asn1210Tyr)
c.3448A>T (p.Asn1150Tyr)
c.3208A>T (p.Asn1070Tyr)
c.2827A>T (p.Asn943Tyr)
c.1690A>T (p.Asn564Tyr)
c.4759A>T (p.Asn1587Tyr)
c.4660A>T (p.Asn1554Tyr)
c.4630A>T (p.Asn1544Tyr)
c.4600A>T (p.Asn1534Tyr)
c.4471A>T (p.Asn1491Tyr)
c.4450A>T (p.Asn1484Tyr)
n.4745A>T
6g.157201024A>CCA366241564ARID1Bc.4640A>C (p.Asn1547Thr)
c.4709A>C (p.Asn1570Thr)
c.4928A>C (p.Asn1643Thr)
c.4679A>C (p.Asn1560Thr)
c.4391A>C (p.Asn1464Thr)
c.2957A>C (p.Asn986Thr)
c.2120A>C (p.Asn707Thr)
c.1751A>C (p.Asn584Thr)
n.3262A>C
n.719A>C
c.4799A>C (p.Asn1600Thr)
n.2796A>C
c.2167A>C
c.2081A>C
n.1465A>C
c.2141A>C (p.Asn714Thr)
c.2300A>C (p.Asn767Thr)
c.4430A>C (p.Asn1477Thr)
c.4550A>C (p.Asn1517Thr)
c.3629A>C (p.Asn1210Thr)
c.3449A>C (p.Asn1150Thr)
c.3209A>C (p.Asn1070Thr)
c.2828A>C (p.Asn943Thr)
c.1691A>C (p.Asn564Thr)
c.4760A>C (p.Asn1587Thr)
c.4661A>C (p.Asn1554Thr)
c.4631A>C (p.Asn1544Thr)
c.4601A>C (p.Asn1534Thr)
c.4472A>C (p.Asn1491Thr)
c.4451A>C (p.Asn1484Thr)
n.4746A>C
6g.157201024A>GCA366241566ARID1Bc.4640A>G (p.Asn1547Ser)
c.4709A>G (p.Asn1570Ser)
c.4928A>G (p.Asn1643Ser)
c.4679A>G (p.Asn1560Ser)
c.4391A>G (p.Asn1464Ser)
c.2957A>G (p.Asn986Ser)
c.2120A>G (p.Asn707Ser)
c.1751A>G (p.Asn584Ser)
n.3262A>G
n.719A>G
c.4799A>G (p.Asn1600Ser)
n.2796A>G
c.2167A>G
c.2081A>G
n.1465A>G
c.2141A>G (p.Asn714Ser)
c.2300A>G (p.Asn767Ser)
c.4430A>G (p.Asn1477Ser)
c.4550A>G (p.Asn1517Ser)
c.3629A>G (p.Asn1210Ser)
c.3449A>G (p.Asn1150Ser)
c.3209A>G (p.Asn1070Ser)
c.2828A>G (p.Asn943Ser)
c.1691A>G (p.Asn564Ser)
c.4760A>G (p.Asn1587Ser)
c.4661A>G (p.Asn1554Ser)
c.4631A>G (p.Asn1544Ser)
c.4601A>G (p.Asn1534Ser)
c.4472A>G (p.Asn1491Ser)
c.4451A>G (p.Asn1484Ser)
n.4746A>G
gnomAD v4
6g.157201024A>TCA366241568ARID1Bc.4640A>T (p.Asn1547Ile)
c.4709A>T (p.Asn1570Ile)
c.4928A>T (p.Asn1643Ile)
c.4679A>T (p.Asn1560Ile)
c.4391A>T (p.Asn1464Ile)
c.2957A>T (p.Asn986Ile)
c.2120A>T (p.Asn707Ile)
c.1751A>T (p.Asn584Ile)
n.3262A>T
n.719A>T
c.4799A>T (p.Asn1600Ile)
n.2796A>T
c.2167A>T
c.2081A>T
n.1465A>T
c.2141A>T (p.Asn714Ile)
c.2300A>T (p.Asn767Ile)
c.4430A>T (p.Asn1477Ile)
c.4550A>T (p.Asn1517Ile)
c.3629A>T (p.Asn1210Ile)
c.3449A>T (p.Asn1150Ile)
c.3209A>T (p.Asn1070Ile)
c.2828A>T (p.Asn943Ile)
c.1691A>T (p.Asn564Ile)
c.4760A>T (p.Asn1587Ile)
c.4661A>T (p.Asn1554Ile)
c.4631A>T (p.Asn1544Ile)
c.4601A>T (p.Asn1534Ile)
c.4472A>T (p.Asn1491Ile)
c.4451A>T (p.Asn1484Ile)
n.4746A>T
6g.157201025C>ACA366241574ARID1Bc.4641C>A (p.Asn1547Lys)
c.4710C>A (p.Asn1570Lys)
c.4929C>A (p.Asn1643Lys)
c.4680C>A (p.Asn1560Lys)
c.4392C>A (p.Asn1464Lys)
c.2958C>A (p.Asn986Lys)
c.2121C>A (p.Asn707Lys)
c.1752C>A (p.Asn584Lys)
n.3263C>A
n.720C>A
c.4800C>A (p.Asn1600Lys)
n.2797C>A
c.2168C>A
c.2082C>A
n.1466C>A
c.2142C>A (p.Asn714Lys)
c.2301C>A (p.Asn767Lys)
c.4431C>A (p.Asn1477Lys)
c.4551C>A (p.Asn1517Lys)
c.3630C>A (p.Asn1210Lys)
c.3450C>A (p.Asn1150Lys)
c.3210C>A (p.Asn1070Lys)
c.2829C>A (p.Asn943Lys)
c.1692C>A (p.Asn564Lys)
c.4761C>A (p.Asn1587Lys)
c.4662C>A (p.Asn1554Lys)
c.4632C>A (p.Asn1544Lys)
c.4602C>A (p.Asn1534Lys)
c.4473C>A (p.Asn1491Lys)
c.4452C>A (p.Asn1484Lys)
n.4747C>A
6g.157201025C=CA1675522815ARID1Bc.4641C= (p.Asn1547=)
c.4710C= (p.Asn1570=)
c.4929C= (p.Asn1643=)
c.4680C= (p.Asn1560=)
c.4392C= (p.Asn1464=)
c.2958C= (p.Asn986=)
c.2121C= (p.Asn707=)
c.1752C= (p.Asn584=)
n.3263C=
n.720C=
c.4800C= (p.Asn1600=)
n.2797C=
c.2168C=
c.2082C=
n.1466C=
c.2142C= (p.Asn714=)
c.2301C= (p.Asn767=)
c.4431C= (p.Asn1477=)
c.4551C= (p.Asn1517=)
c.3630C= (p.Asn1210=)
c.3450C= (p.Asn1150=)
c.3210C= (p.Asn1070=)
c.2829C= (p.Asn943=)
c.1692C= (p.Asn564=)
c.4761C= (p.Asn1587=)
c.4662C= (p.Asn1554=)
c.4632C= (p.Asn1544=)
c.4602C= (p.Asn1534=)
c.4473C= (p.Asn1491=)
c.4452C= (p.Asn1484=)
n.4747C=
6g.157201025C>GCA366241572ARID1Bc.4641C>G (p.Asn1547Lys)
c.4710C>G (p.Asn1570Lys)
c.4929C>G (p.Asn1643Lys)
c.4680C>G (p.Asn1560Lys)
c.4392C>G (p.Asn1464Lys)
c.2958C>G (p.Asn986Lys)
c.2121C>G (p.Asn707Lys)
c.1752C>G (p.Asn584Lys)
n.3263C>G
n.720C>G
c.4800C>G (p.Asn1600Lys)
n.2797C>G
c.2168C>G
c.2082C>G
n.1466C>G
c.2142C>G (p.Asn714Lys)
c.2301C>G (p.Asn767Lys)
c.4431C>G (p.Asn1477Lys)
c.4551C>G (p.Asn1517Lys)
c.3630C>G (p.Asn1210Lys)
c.3450C>G (p.Asn1150Lys)
c.3210C>G (p.Asn1070Lys)
c.2829C>G (p.Asn943Lys)
c.1692C>G (p.Asn564Lys)
c.4761C>G (p.Asn1587Lys)
c.4662C>G (p.Asn1554Lys)
c.4632C>G (p.Asn1544Lys)
c.4602C>G (p.Asn1534Lys)
c.4473C>G (p.Asn1491Lys)
c.4452C>G (p.Asn1484Lys)
n.4747C>G
6g.157201025C>TCA4067712ARID1Bc.4641C>T (p.Asn1547=)
c.4710C>T (p.Asn1570=)
c.4929C>T (p.Asn1643=)
c.4680C>T (p.Asn1560=)
c.4392C>T (p.Asn1464=)
c.2958C>T (p.Asn986=)
c.2121C>T (p.Asn707=)
c.1752C>T (p.Asn584=)
n.3263C>T
n.720C>T
c.4800C>T (p.Asn1600=)
n.2797C>T
c.2168C>T
c.2082C>T
n.1466C>T
c.2142C>T (p.Asn714=)
c.2301C>T (p.Asn767=)
c.4431C>T (p.Asn1477=)
c.4551C>T (p.Asn1517=)
c.3630C>T (p.Asn1210=)
c.3450C>T (p.Asn1150=)
c.3210C>T (p.Asn1070=)
c.2829C>T (p.Asn943=)
c.1692C>T (p.Asn564=)
c.4761C>T (p.Asn1587=)
c.4662C>T (p.Asn1554=)
c.4632C>T (p.Asn1544=)
c.4602C>T (p.Asn1534=)
c.4473C>T (p.Asn1491=)
c.4452C>T (p.Asn1484=)
n.4747C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.157201026A>CCA452978365ARID1Bc.4642A>C (p.Arg1548=)
c.4711A>C (p.Arg1571=)
c.4930A>C (p.Arg1644=)
c.4681A>C (p.Arg1561=)
c.4393A>C (p.Arg1465=)
c.2959A>C (p.Arg987=)
c.2122A>C (p.Arg708=)
c.1753A>C (p.Arg585=)
n.3264A>C
n.721A>C
c.4801A>C (p.Arg1601=)
n.2798A>C
c.2169A>C
c.2083A>C
n.1467A>C
c.2143A>C (p.Arg715=)
c.2302A>C (p.Arg768=)
c.4432A>C (p.Arg1478=)
c.4552A>C (p.Arg1518=)
c.3631A>C (p.Arg1211=)
c.3451A>C (p.Arg1151=)
c.3211A>C (p.Arg1071=)
c.2830A>C (p.Arg944=)
c.1693A>C (p.Arg565=)
c.4762A>C (p.Arg1588=)
c.4663A>C (p.Arg1555=)
c.4633A>C (p.Arg1545=)
c.4603A>C (p.Arg1535=)
c.4474A>C (p.Arg1492=)
c.4453A>C (p.Arg1485=)
n.4748A>C
6g.157201026A>GCA366241577ARID1Bc.4642A>G (p.Arg1548Gly)
c.4711A>G (p.Arg1571Gly)
c.4930A>G (p.Arg1644Gly)
c.4681A>G (p.Arg1561Gly)
c.4393A>G (p.Arg1465Gly)
c.2959A>G (p.Arg987Gly)
c.2122A>G (p.Arg708Gly)
c.1753A>G (p.Arg585Gly)
n.3264A>G
n.721A>G
c.4801A>G (p.Arg1601Gly)
n.2798A>G
c.2169A>G
c.2083A>G
n.1467A>G
c.2143A>G (p.Arg715Gly)
c.2302A>G (p.Arg768Gly)
c.4432A>G (p.Arg1478Gly)
c.4552A>G (p.Arg1518Gly)
c.3631A>G (p.Arg1211Gly)
c.3451A>G (p.Arg1151Gly)
c.3211A>G (p.Arg1071Gly)
c.2830A>G (p.Arg944Gly)
c.1693A>G (p.Arg565Gly)
c.4762A>G (p.Arg1588Gly)
c.4663A>G (p.Arg1555Gly)
c.4633A>G (p.Arg1545Gly)
c.4603A>G (p.Arg1535Gly)
c.4474A>G (p.Arg1492Gly)
c.4453A>G (p.Arg1485Gly)
n.4748A>G
6g.157201026A>TCA366241579ARID1Bc.4642A>T (p.Arg1548Trp)
c.4711A>T (p.Arg1571Trp)
c.4930A>T (p.Arg1644Trp)
c.4681A>T (p.Arg1561Trp)
c.4393A>T (p.Arg1465Trp)
c.2959A>T (p.Arg987Trp)
c.2122A>T (p.Arg708Trp)
c.1753A>T (p.Arg585Trp)
n.3264A>T
n.721A>T
c.4801A>T (p.Arg1601Trp)
n.2798A>T
c.2169A>T
c.2083A>T
n.1467A>T
c.2143A>T (p.Arg715Trp)
c.2302A>T (p.Arg768Trp)
c.4432A>T (p.Arg1478Trp)
c.4552A>T (p.Arg1518Trp)
c.3631A>T (p.Arg1211Trp)
c.3451A>T (p.Arg1151Trp)
c.3211A>T (p.Arg1071Trp)
c.2830A>T (p.Arg944Trp)
c.1693A>T (p.Arg565Trp)
c.4762A>T (p.Arg1588Trp)
c.4663A>T (p.Arg1555Trp)
c.4633A>T (p.Arg1545Trp)
c.4603A>T (p.Arg1535Trp)
c.4474A>T (p.Arg1492Trp)
c.4453A>T (p.Arg1485Trp)
n.4748A>T
6g.157201027G>ACA366241582ARID1Bc.4643G>A (p.Arg1548Lys)
c.4712G>A (p.Arg1571Lys)
c.4931G>A (p.Arg1644Lys)
c.4682G>A (p.Arg1561Lys)
c.4394G>A (p.Arg1465Lys)
c.2960G>A (p.Arg987Lys)
c.2123G>A (p.Arg708Lys)
c.1754G>A (p.Arg585Lys)
n.3265G>A
n.722G>A
c.4802G>A (p.Arg1601Lys)
n.2799G>A
c.2170G>A
c.2084G>A
n.1468G>A
c.2144G>A (p.Arg715Lys)
c.2303G>A (p.Arg768Lys)
c.4433G>A (p.Arg1478Lys)
c.4553G>A (p.Arg1518Lys)
c.3632G>A (p.Arg1211Lys)
c.3452G>A (p.Arg1151Lys)
c.3212G>A (p.Arg1071Lys)
c.2831G>A (p.Arg944Lys)
c.1694G>A (p.Arg565Lys)
c.4763G>A (p.Arg1588Lys)
c.4664G>A (p.Arg1555Lys)
c.4634G>A (p.Arg1545Lys)
c.4604G>A (p.Arg1535Lys)
c.4475G>A (p.Arg1492Lys)
c.4454G>A (p.Arg1485Lys)
n.4749G>A
dbSNP
6g.157201027G>CCA366241584ARID1Bc.4643G>C (p.Arg1548Thr)
c.4712G>C (p.Arg1571Thr)
c.4931G>C (p.Arg1644Thr)
c.4682G>C (p.Arg1561Thr)
c.4394G>C (p.Arg1465Thr)
c.2960G>C (p.Arg987Thr)
c.2123G>C (p.Arg708Thr)
c.1754G>C (p.Arg585Thr)
n.3265G>C
n.722G>C
c.4802G>C (p.Arg1601Thr)
n.2799G>C
c.2170G>C
c.2084G>C
n.1468G>C
c.2144G>C (p.Arg715Thr)
c.2303G>C (p.Arg768Thr)
c.4433G>C (p.Arg1478Thr)
c.4553G>C (p.Arg1518Thr)
c.3632G>C (p.Arg1211Thr)
c.3452G>C (p.Arg1151Thr)
c.3212G>C (p.Arg1071Thr)
c.2831G>C (p.Arg944Thr)
c.1694G>C (p.Arg565Thr)
c.4763G>C (p.Arg1588Thr)
c.4664G>C (p.Arg1555Thr)
c.4634G>C (p.Arg1545Thr)
c.4604G>C (p.Arg1535Thr)
c.4475G>C (p.Arg1492Thr)
c.4454G>C (p.Arg1485Thr)
n.4749G>C
6g.157201027G=CA1675522817ARID1Bc.4643G= (p.Arg1548=)
c.4712G= (p.Arg1571=)
c.4931G= (p.Arg1644=)
c.4682G= (p.Arg1561=)
c.4394G= (p.Arg1465=)
c.2960G= (p.Arg987=)
c.2123G= (p.Arg708=)
c.1754G= (p.Arg585=)
n.3265G=
n.722G=
c.4802G= (p.Arg1601=)
n.2799G=
c.2170G=
c.2084G=
n.1468G=
c.2144G= (p.Arg715=)
c.2303G= (p.Arg768=)
c.4433G= (p.Arg1478=)
c.4553G= (p.Arg1518=)
c.3632G= (p.Arg1211=)
c.3452G= (p.Arg1151=)
c.3212G= (p.Arg1071=)
c.2831G= (p.Arg944=)
c.1694G= (p.Arg565=)
c.4763G= (p.Arg1588=)
c.4664G= (p.Arg1555=)
c.4634G= (p.Arg1545=)
c.4604G= (p.Arg1535=)
c.4475G= (p.Arg1492=)
c.4454G= (p.Arg1485=)
n.4749G=
6g.157201027G>TCA366241586ARID1Bc.4643G>T (p.Arg1548Met)
c.4712G>T (p.Arg1571Met)
c.4931G>T (p.Arg1644Met)
c.4682G>T (p.Arg1561Met)
c.4394G>T (p.Arg1465Met)
c.2960G>T (p.Arg987Met)
c.2123G>T (p.Arg708Met)
c.1754G>T (p.Arg585Met)
n.3265G>T
n.722G>T
c.4802G>T (p.Arg1601Met)
n.2799G>T
c.2170G>T
c.2084G>T
n.1468G>T
c.2144G>T (p.Arg715Met)
c.2303G>T (p.Arg768Met)
c.4433G>T (p.Arg1478Met)
c.4553G>T (p.Arg1518Met)
c.3632G>T (p.Arg1211Met)
c.3452G>T (p.Arg1151Met)
c.3212G>T (p.Arg1071Met)
c.2831G>T (p.Arg944Met)
c.1694G>T (p.Arg565Met)
c.4763G>T (p.Arg1588Met)
c.4664G>T (p.Arg1555Met)
c.4634G>T (p.Arg1545Met)
c.4604G>T (p.Arg1535Met)
c.4475G>T (p.Arg1492Met)
c.4454G>T (p.Arg1485Met)
n.4749G>T
6g.157201028G>ACA452978368ARID1Bc.4644G>A (p.Arg1548=)
c.4713G>A (p.Arg1571=)
c.4932G>A (p.Arg1644=)
c.4683G>A (p.Arg1561=)
c.4395G>A (p.Arg1465=)
c.2961G>A (p.Arg987=)
c.2124G>A (p.Arg708=)
c.1755G>A (p.Arg585=)
n.3266G>A
n.723G>A
c.4803G>A (p.Arg1601=)
n.2800G>A
c.2171G>A
c.2085G>A
n.1469G>A
c.2145G>A (p.Arg715=)
c.2304G>A (p.Arg768=)
c.4434G>A (p.Arg1478=)
c.4554G>A (p.Arg1518=)
c.3633G>A (p.Arg1211=)
c.3453G>A (p.Arg1151=)
c.3213G>A (p.Arg1071=)
c.2832G>A (p.Arg944=)
c.1695G>A (p.Arg565=)
c.4764G>A (p.Arg1588=)
c.4665G>A (p.Arg1555=)
c.4635G>A (p.Arg1545=)
c.4605G>A (p.Arg1535=)
c.4476G>A (p.Arg1492=)
c.4455G>A (p.Arg1485=)
n.4750G>A
dbSNP gnomAD v2 gnomAD v4
6g.157201028G>CCA366241589ARID1Bc.4644G>C (p.Arg1548Ser)
c.4713G>C (p.Arg1571Ser)
c.4932G>C (p.Arg1644Ser)
c.4683G>C (p.Arg1561Ser)
c.4395G>C (p.Arg1465Ser)
c.2961G>C (p.Arg987Ser)
c.2124G>C (p.Arg708Ser)
c.1755G>C (p.Arg585Ser)
n.3266G>C
n.723G>C
c.4803G>C (p.Arg1601Ser)
n.2800G>C
c.2171G>C
c.2085G>C
n.1469G>C
c.2145G>C (p.Arg715Ser)
c.2304G>C (p.Arg768Ser)
c.4434G>C (p.Arg1478Ser)
c.4554G>C (p.Arg1518Ser)
c.3633G>C (p.Arg1211Ser)
c.3453G>C (p.Arg1151Ser)
c.3213G>C (p.Arg1071Ser)
c.2832G>C (p.Arg944Ser)
c.1695G>C (p.Arg565Ser)
c.4764G>C (p.Arg1588Ser)
c.4665G>C (p.Arg1555Ser)
c.4635G>C (p.Arg1545Ser)
c.4605G>C (p.Arg1535Ser)
c.4476G>C (p.Arg1492Ser)
c.4455G>C (p.Arg1485Ser)
n.4750G>C
6g.157201028G=CA1675522818ARID1Bc.4644G= (p.Arg1548=)
c.4713G= (p.Arg1571=)
c.4932G= (p.Arg1644=)
c.4683G= (p.Arg1561=)
c.4395G= (p.Arg1465=)
c.2961G= (p.Arg987=)
c.2124G= (p.Arg708=)
c.1755G= (p.Arg585=)
n.3266G=
n.723G=
c.4803G= (p.Arg1601=)
n.2800G=
c.2171G=
c.2085G=
n.1469G=
c.2145G= (p.Arg715=)
c.2304G= (p.Arg768=)
c.4434G= (p.Arg1478=)
c.4554G= (p.Arg1518=)
c.3633G= (p.Arg1211=)
c.3453G= (p.Arg1151=)
c.3213G= (p.Arg1071=)
c.2832G= (p.Arg944=)
c.1695G= (p.Arg565=)
c.4764G= (p.Arg1588=)
c.4665G= (p.Arg1555=)
c.4635G= (p.Arg1545=)
c.4605G= (p.Arg1535=)
c.4476G= (p.Arg1492=)
c.4455G= (p.Arg1485=)
n.4750G=
6g.157201028G>TCA366241591ARID1Bc.4644G>T (p.Arg1548Ser)
c.4713G>T (p.Arg1571Ser)
c.4932G>T (p.Arg1644Ser)
c.4683G>T (p.Arg1561Ser)
c.4395G>T (p.Arg1465Ser)
c.2961G>T (p.Arg987Ser)
c.2124G>T (p.Arg708Ser)
c.1755G>T (p.Arg585Ser)
n.3266G>T
n.723G>T
c.4803G>T (p.Arg1601Ser)
n.2800G>T
c.2171G>T
c.2085G>T
n.1469G>T
c.2145G>T (p.Arg715Ser)
c.2304G>T (p.Arg768Ser)
c.4434G>T (p.Arg1478Ser)
c.4554G>T (p.Arg1518Ser)
c.3633G>T (p.Arg1211Ser)
c.3453G>T (p.Arg1151Ser)
c.3213G>T (p.Arg1071Ser)
c.2832G>T (p.Arg944Ser)
c.1695G>T (p.Arg565Ser)
c.4764G>T (p.Arg1588Ser)
c.4665G>T (p.Arg1555Ser)
c.4635G>T (p.Arg1545Ser)
c.4605G>T (p.Arg1535Ser)
c.4476G>T (p.Arg1492Ser)
c.4455G>T (p.Arg1485Ser)
n.4750G>T
6g.157201029C>ACA366241594ARID1Bc.4645C>A (p.Gln1549Lys)
c.4714C>A (p.Gln1572Lys)
c.4933C>A (p.Gln1645Lys)
c.4684C>A (p.Gln1562Lys)
c.4396C>A (p.Gln1466Lys)
c.2962C>A (p.Gln988Lys)
c.2125C>A (p.Gln709Lys)
c.1756C>A (p.Gln586Lys)
n.3267C>A
n.724C>A
c.4804C>A (p.Gln1602Lys)
n.2801C>A
c.2172C>A
c.2086C>A
n.1470C>A
c.2146C>A (p.Gln716Lys)
c.2305C>A (p.Gln769Lys)
c.4435C>A (p.Gln1479Lys)
c.4555C>A (p.Gln1519Lys)
c.3634C>A (p.Gln1212Lys)
c.3454C>A (p.Gln1152Lys)
c.3214C>A (p.Gln1072Lys)
c.2833C>A (p.Gln945Lys)
c.1696C>A (p.Gln566Lys)
c.4765C>A (p.Gln1589Lys)
c.4666C>A (p.Gln1556Lys)
c.4636C>A (p.Gln1546Lys)
c.4606C>A (p.Gln1536Lys)
c.4477C>A (p.Gln1493Lys)
c.4456C>A (p.Gln1486Lys)
n.4751C>A
6g.157201029C=CA1675522820ARID1Bc.4645C= (p.Gln1549=)
c.4714C= (p.Gln1572=)
c.4933C= (p.Gln1645=)
c.4684C= (p.Gln1562=)
c.4396C= (p.Gln1466=)
c.2962C= (p.Gln988=)
c.2125C= (p.Gln709=)
c.1756C= (p.Gln586=)
n.3267C=
n.724C=
c.4804C= (p.Gln1602=)
n.2801C=
c.2172C=
c.2086C=
n.1470C=
c.2146C= (p.Gln716=)
c.2305C= (p.Gln769=)
c.4435C= (p.Gln1479=)
c.4555C= (p.Gln1519=)
c.3634C= (p.Gln1212=)
c.3454C= (p.Gln1152=)
c.3214C= (p.Gln1072=)
c.2833C= (p.Gln945=)
c.1696C= (p.Gln566=)
c.4765C= (p.Gln1589=)
c.4666C= (p.Gln1556=)
c.4636C= (p.Gln1546=)
c.4606C= (p.Gln1536=)
c.4477C= (p.Gln1493=)
c.4456C= (p.Gln1486=)
n.4751C=
6g.157201029C>GCA366241597ARID1Bc.4645C>G (p.Gln1549Glu)
c.4714C>G (p.Gln1572Glu)
c.4933C>G (p.Gln1645Glu)
c.4684C>G (p.Gln1562Glu)
c.4396C>G (p.Gln1466Glu)
c.2962C>G (p.Gln988Glu)
c.2125C>G (p.Gln709Glu)
c.1756C>G (p.Gln586Glu)
n.3267C>G
n.724C>G
c.4804C>G (p.Gln1602Glu)
n.2801C>G
c.2172C>G
c.2086C>G
n.1470C>G
c.2146C>G (p.Gln716Glu)
c.2305C>G (p.Gln769Glu)
c.4435C>G (p.Gln1479Glu)
c.4555C>G (p.Gln1519Glu)
c.3634C>G (p.Gln1212Glu)
c.3454C>G (p.Gln1152Glu)
c.3214C>G (p.Gln1072Glu)
c.2833C>G (p.Gln945Glu)
c.1696C>G (p.Gln566Glu)
c.4765C>G (p.Gln1589Glu)
c.4666C>G (p.Gln1556Glu)
c.4636C>G (p.Gln1546Glu)
c.4606C>G (p.Gln1536Glu)
c.4477C>G (p.Gln1493Glu)
c.4456C>G (p.Gln1486Glu)
n.4751C>G
dbSNP gnomAD v3 gnomAD v4
6g.157201029C>TCA366241596ARID1Bc.4645C>T (p.Gln1549Ter)
c.4714C>T (p.Gln1572Ter)
c.4933C>T (p.Gln1645Ter)
c.4684C>T (p.Gln1562Ter)
c.4396C>T (p.Gln1466Ter)
c.2962C>T (p.Gln988Ter)
c.2125C>T (p.Gln709Ter)
c.1756C>T (p.Gln586Ter)
n.3267C>T
n.724C>T
c.4804C>T (p.Gln1602Ter)
n.2801C>T
c.2172C>T
c.2086C>T
n.1470C>T
c.2146C>T (p.Gln716Ter)
c.2305C>T (p.Gln769Ter)
c.4435C>T (p.Gln1479Ter)
c.4555C>T (p.Gln1519Ter)
c.3634C>T (p.Gln1212Ter)
c.3454C>T (p.Gln1152Ter)
c.3214C>T (p.Gln1072Ter)
c.2833C>T (p.Gln945Ter)
c.1696C>T (p.Gln566Ter)
c.4765C>T (p.Gln1589Ter)
c.4666C>T (p.Gln1556Ter)
c.4636C>T (p.Gln1546Ter)
c.4606C>T (p.Gln1536Ter)
c.4477C>T (p.Gln1493Ter)
c.4456C>T (p.Gln1486Ter)
n.4751C>T
ClinVar dbSNP
6g.157201030A>CCA366241600ARID1Bc.4646A>C (p.Gln1549Pro)
c.4715A>C (p.Gln1572Pro)
c.4934A>C (p.Gln1645Pro)
c.4685A>C (p.Gln1562Pro)
c.4397A>C (p.Gln1466Pro)
c.2963A>C (p.Gln988Pro)
c.2126A>C (p.Gln709Pro)
c.1757A>C (p.Gln586Pro)
n.3268A>C
n.725A>C
c.4805A>C (p.Gln1602Pro)
n.2802A>C
c.2173A>C
c.2087A>C
n.1471A>C
c.2147A>C (p.Gln716Pro)
c.2306A>C (p.Gln769Pro)
c.4436A>C (p.Gln1479Pro)
c.4556A>C (p.Gln1519Pro)
c.3635A>C (p.Gln1212Pro)
c.3455A>C (p.Gln1152Pro)
c.3215A>C (p.Gln1072Pro)
c.2834A>C (p.Gln945Pro)
c.1697A>C (p.Gln566Pro)
c.4766A>C (p.Gln1589Pro)
c.4667A>C (p.Gln1556Pro)
c.4637A>C (p.Gln1546Pro)
c.4607A>C (p.Gln1536Pro)
c.4478A>C (p.Gln1493Pro)
c.4457A>C (p.Gln1486Pro)
n.4752A>C
6g.157201030A>GCA366241602ARID1Bc.4646A>G (p.Gln1549Arg)
c.4715A>G (p.Gln1572Arg)
c.4934A>G (p.Gln1645Arg)
c.4685A>G (p.Gln1562Arg)
c.4397A>G (p.Gln1466Arg)
c.2963A>G (p.Gln988Arg)
c.2126A>G (p.Gln709Arg)
c.1757A>G (p.Gln586Arg)
n.3268A>G
n.725A>G
c.4805A>G (p.Gln1602Arg)
n.2802A>G
c.2173A>G
c.2087A>G
n.1471A>G
c.2147A>G (p.Gln716Arg)
c.2306A>G (p.Gln769Arg)
c.4436A>G (p.Gln1479Arg)
c.4556A>G (p.Gln1519Arg)
c.3635A>G (p.Gln1212Arg)
c.3455A>G (p.Gln1152Arg)
c.3215A>G (p.Gln1072Arg)
c.2834A>G (p.Gln945Arg)
c.1697A>G (p.Gln566Arg)
c.4766A>G (p.Gln1589Arg)
c.4667A>G (p.Gln1556Arg)
c.4637A>G (p.Gln1546Arg)
c.4607A>G (p.Gln1536Arg)
c.4478A>G (p.Gln1493Arg)
c.4457A>G (p.Gln1486Arg)
n.4752A>G
6g.157201030A>TCA366241605ARID1Bc.4646A>T (p.Gln1549Leu)
c.4715A>T (p.Gln1572Leu)
c.4934A>T (p.Gln1645Leu)
c.4685A>T (p.Gln1562Leu)
c.4397A>T (p.Gln1466Leu)
c.2963A>T (p.Gln988Leu)
c.2126A>T (p.Gln709Leu)
c.1757A>T (p.Gln586Leu)
n.3268A>T
n.725A>T
c.4805A>T (p.Gln1602Leu)
n.2802A>T
c.2173A>T
c.2087A>T
n.1471A>T
c.2147A>T (p.Gln716Leu)
c.2306A>T (p.Gln769Leu)
c.4436A>T (p.Gln1479Leu)
c.4556A>T (p.Gln1519Leu)
c.3635A>T (p.Gln1212Leu)
c.3455A>T (p.Gln1152Leu)
c.3215A>T (p.Gln1072Leu)
c.2834A>T (p.Gln945Leu)
c.1697A>T (p.Gln566Leu)
c.4766A>T (p.Gln1589Leu)
c.4667A>T (p.Gln1556Leu)
c.4637A>T (p.Gln1546Leu)
c.4607A>T (p.Gln1536Leu)
c.4478A>T (p.Gln1493Leu)
c.4457A>T (p.Gln1486Leu)
n.4752A>T
6g.157201030_157201031dupCA2504761000ARID1Bc.4646_4647dup (p.Gly1550ArgfsTer15)
c.4715_4716dup (p.Gly1573ArgfsTer15)
c.4934_4935dup (p.Gly1646ArgfsTer15)
c.4685_4686dup (p.Gly1563ArgfsTer15)
c.4397_4398dup (p.Gly1467ArgfsTer15)
c.2963_2964dup (p.Gly989ArgfsTer15)
c.2126_2127dup (p.Gly710ArgfsTer15)
c.1757_1758dup (p.Gly587ArgfsTer15)
n.3268_3269dup
n.725_726dup
c.4805_4806dup (p.Gly1603ArgfsTer15)
n.2802_2803dup
c.2173_2174dup
c.2087_2088dup
n.1471_1472dup
c.2147_2148dup (p.Gly717ArgfsTer15)
c.2306_2307dup (p.Gly770ArgfsTer15)
c.4436_4437dup (p.Gly1480ArgfsTer15)
c.4556_4557dup (p.Gly1520ArgfsTer15)
c.3635_3636dup (p.Gly1213ArgfsTer15)
c.3455_3456dup (p.Gly1153ArgfsTer15)
c.3215_3216dup (p.Gly1073ArgfsTer15)
c.2834_2835dup (p.Gly946ArgfsTer15)
c.1697_1698dup (p.Gly567ArgfsTer15)
c.4766_4767dup (p.Gly1590ArgfsTer15)
c.4667_4668dup (p.Gly1557ArgfsTer15)
c.4637_4638dup (p.Gly1547ArgfsTer15)
c.4607_4608dup (p.Gly1537ArgfsTer15)
c.4478_4479dup (p.Gly1494ArgfsTer15)
c.4457_4458dup (p.Gly1487ArgfsTer15)
n.4752_4753dup
6g.157201031G>ACA452978371ARID1Bc.4647G>A (p.Gln1549=)
c.4716G>A (p.Gln1572=)
c.4935G>A (p.Gln1645=)
c.4686G>A (p.Gln1562=)
c.4398G>A (p.Gln1466=)
c.2964G>A (p.Gln988=)
c.2127G>A (p.Gln709=)
c.1758G>A (p.Gln586=)
n.3269G>A
n.726G>A
c.4806G>A (p.Gln1602=)
n.2803G>A
c.2174G>A
c.2088G>A
n.1472G>A
c.2148G>A (p.Gln716=)
c.2307G>A (p.Gln769=)
c.4437G>A (p.Gln1479=)
c.4557G>A (p.Gln1519=)
c.3636G>A (p.Gln1212=)
c.3456G>A (p.Gln1152=)
c.3216G>A (p.Gln1072=)
c.2835G>A (p.Gln945=)
c.1698G>A (p.Gln566=)
c.4767G>A (p.Gln1589=)
c.4668G>A (p.Gln1556=)
c.4638G>A (p.Gln1546=)
c.4608G>A (p.Gln1536=)
c.4479G>A (p.Gln1493=)
c.4458G>A (p.Gln1486=)
n.4753G>A
6g.157201031G>CCA366241608ARID1Bc.4647G>C (p.Gln1549His)
c.4716G>C (p.Gln1572His)
c.4935G>C (p.Gln1645His)
c.4686G>C (p.Gln1562His)
c.4398G>C (p.Gln1466His)
c.2964G>C (p.Gln988His)
c.2127G>C (p.Gln709His)
c.1758G>C (p.Gln586His)
n.3269G>C
n.726G>C
c.4806G>C (p.Gln1602His)
n.2803G>C
c.2174G>C
c.2088G>C
n.1472G>C
c.2148G>C (p.Gln716His)
c.2307G>C (p.Gln769His)
c.4437G>C (p.Gln1479His)
c.4557G>C (p.Gln1519His)
c.3636G>C (p.Gln1212His)
c.3456G>C (p.Gln1152His)
c.3216G>C (p.Gln1072His)
c.2835G>C (p.Gln945His)
c.1698G>C (p.Gln566His)
c.4767G>C (p.Gln1589His)
c.4668G>C (p.Gln1556His)
c.4638G>C (p.Gln1546His)
c.4608G>C (p.Gln1536His)
c.4479G>C (p.Gln1493His)
c.4458G>C (p.Gln1486His)
n.4753G>C
6g.157201031G=CA1675522823ARID1Bc.4647G= (p.Gln1549=)
c.4716G= (p.Gln1572=)
c.4935G= (p.Gln1645=)
c.4686G= (p.Gln1562=)
c.4398G= (p.Gln1466=)
c.2964G= (p.Gln988=)
c.2127G= (p.Gln709=)
c.1758G= (p.Gln586=)
n.3269G=
n.726G=
c.4806G= (p.Gln1602=)
n.2803G=
c.2174G=
c.2088G=
n.1472G=
c.2148G= (p.Gln716=)
c.2307G= (p.Gln769=)
c.4437G= (p.Gln1479=)
c.4557G= (p.Gln1519=)
c.3636G= (p.Gln1212=)
c.3456G= (p.Gln1152=)
c.3216G= (p.Gln1072=)
c.2835G= (p.Gln945=)
c.1698G= (p.Gln566=)
c.4767G= (p.Gln1589=)
c.4668G= (p.Gln1556=)
c.4638G= (p.Gln1546=)
c.4608G= (p.Gln1536=)
c.4479G= (p.Gln1493=)
c.4458G= (p.Gln1486=)
n.4753G=
6g.157201031G>TCA150370137ARID1Bc.4647G>T (p.Gln1549His)
c.4716G>T (p.Gln1572His)
c.4935G>T (p.Gln1645His)
c.4686G>T (p.Gln1562His)
c.4398G>T (p.Gln1466His)
c.2964G>T (p.Gln988His)
c.2127G>T (p.Gln709His)
c.1758G>T (p.Gln586His)
n.3269G>T
n.726G>T
c.4806G>T (p.Gln1602His)
n.2803G>T
c.2174G>T
c.2088G>T
n.1472G>T
c.2148G>T (p.Gln716His)
c.2307G>T (p.Gln769His)
c.4437G>T (p.Gln1479His)
c.4557G>T (p.Gln1519His)
c.3636G>T (p.Gln1212His)
c.3456G>T (p.Gln1152His)
c.3216G>T (p.Gln1072His)
c.2835G>T (p.Gln945His)
c.1698G>T (p.Gln566His)
c.4767G>T (p.Gln1589His)
c.4668G>T (p.Gln1556His)
c.4638G>T (p.Gln1546His)
c.4608G>T (p.Gln1536His)
c.4479G>T (p.Gln1493His)
c.4458G>T (p.Gln1486His)
n.4753G>T
dbSNP
6g.157201033delCA2573052629ARID1Bc.4649del (p.Gly1550AlafsTer14)
c.4718del (p.Gly1573AlafsTer14)
c.4937del (p.Gly1646AlafsTer14)
c.4688del (p.Gly1563AlafsTer14)
c.4400del (p.Gly1467AlafsTer14)
c.2966del (p.Gly989AlafsTer14)
c.2129del (p.Gly710AlafsTer14)
c.1760del (p.Gly587AlafsTer14)
n.3271del
n.728del
c.4808del (p.Gly1603AlafsTer14)
n.2805del
c.2176del
c.2090del
n.1474del
c.2150del (p.Gly717AlafsTer14)
c.2309del (p.Gly770AlafsTer14)
c.4439del (p.Gly1480AlafsTer14)
c.4559del (p.Gly1520AlafsTer14)
c.3638del (p.Gly1213AlafsTer14)
c.3458del (p.Gly1153AlafsTer14)
c.3218del (p.Gly1073AlafsTer14)
c.2837del (p.Gly946AlafsTer14)
c.1700del (p.Gly567AlafsTer14)
c.4769del (p.Gly1590AlafsTer14)
c.4670del (p.Gly1557AlafsTer14)
c.4640del (p.Gly1547AlafsTer14)
c.4610del (p.Gly1537AlafsTer14)
c.4481del (p.Gly1494AlafsTer14)
c.4460del (p.Gly1487AlafsTer14)
n.4755del
ClinVar dbSNP
6g.157201032G>ACA366241613ARID1Bc.4648G>A (p.Gly1550Ser)
c.4717G>A (p.Gly1573Ser)
c.4936G>A (p.Gly1646Ser)
c.4687G>A (p.Gly1563Ser)
c.4399G>A (p.Gly1467Ser)
c.2965G>A (p.Gly989Ser)
c.2128G>A (p.Gly710Ser)
c.1759G>A (p.Gly587Ser)
n.3270G>A
n.727G>A
c.4807G>A (p.Gly1603Ser)
n.2804G>A
c.2175G>A
c.2089G>A
n.1473G>A
c.2149G>A (p.Gly717Ser)
c.2308G>A (p.Gly770Ser)
c.4438G>A (p.Gly1480Ser)
c.4558G>A (p.Gly1520Ser)
c.3637G>A (p.Gly1213Ser)
c.3457G>A (p.Gly1153Ser)
c.3217G>A (p.Gly1073Ser)
c.2836G>A (p.Gly946Ser)
c.1699G>A (p.Gly567Ser)
c.4768G>A (p.Gly1590Ser)
c.4669G>A (p.Gly1557Ser)
c.4639G>A (p.Gly1547Ser)
c.4609G>A (p.Gly1537Ser)
c.4480G>A (p.Gly1494Ser)
c.4459G>A (p.Gly1487Ser)
n.4754G>A
dbSNP gnomAD v2 gnomAD v4
6g.157201032G>CCA366241614ARID1Bc.4648G>C (p.Gly1550Arg)
c.4717G>C (p.Gly1573Arg)
c.4936G>C (p.Gly1646Arg)
c.4687G>C (p.Gly1563Arg)
c.4399G>C (p.Gly1467Arg)
c.2965G>C (p.Gly989Arg)
c.2128G>C (p.Gly710Arg)
c.1759G>C (p.Gly587Arg)
n.3270G>C
n.727G>C
c.4807G>C (p.Gly1603Arg)
n.2804G>C
c.2175G>C
c.2089G>C
n.1473G>C
c.2149G>C (p.Gly717Arg)
c.2308G>C (p.Gly770Arg)
c.4438G>C (p.Gly1480Arg)
c.4558G>C (p.Gly1520Arg)
c.3637G>C (p.Gly1213Arg)
c.3457G>C (p.Gly1153Arg)
c.3217G>C (p.Gly1073Arg)
c.2836G>C (p.Gly946Arg)
c.1699G>C (p.Gly567Arg)
c.4768G>C (p.Gly1590Arg)
c.4669G>C (p.Gly1557Arg)
c.4639G>C (p.Gly1547Arg)
c.4609G>C (p.Gly1537Arg)
c.4480G>C (p.Gly1494Arg)
c.4459G>C (p.Gly1487Arg)
n.4754G>C
6g.157201032G=CA1675522826ARID1Bc.4648G= (p.Gly1550=)
c.4717G= (p.Gly1573=)
c.4936G= (p.Gly1646=)
c.4687G= (p.Gly1563=)
c.4399G= (p.Gly1467=)
c.2965G= (p.Gly989=)
c.2128G= (p.Gly710=)
c.1759G= (p.Gly587=)
n.3270G=
n.727G=
c.4807G= (p.Gly1603=)
n.2804G=
c.2175G=
c.2089G=
n.1473G=
c.2149G= (p.Gly717=)
c.2308G= (p.Gly770=)
c.4438G= (p.Gly1480=)
c.4558G= (p.Gly1520=)
c.3637G= (p.Gly1213=)
c.3457G= (p.Gly1153=)
c.3217G= (p.Gly1073=)
c.2836G= (p.Gly946=)
c.1699G= (p.Gly567=)
c.4768G= (p.Gly1590=)
c.4669G= (p.Gly1557=)
c.4639G= (p.Gly1547=)
c.4609G= (p.Gly1537=)
c.4480G= (p.Gly1494=)
c.4459G= (p.Gly1487=)
n.4754G=
6g.157201032G>TCA366241616ARID1Bc.4648G>T (p.Gly1550Cys)
c.4717G>T (p.Gly1573Cys)
c.4936G>T (p.Gly1646Cys)
c.4687G>T (p.Gly1563Cys)
c.4399G>T (p.Gly1467Cys)
c.2965G>T (p.Gly989Cys)
c.2128G>T (p.Gly710Cys)
c.1759G>T (p.Gly587Cys)
n.3270G>T
n.727G>T
c.4807G>T (p.Gly1603Cys)
n.2804G>T
c.2175G>T
c.2089G>T
n.1473G>T
c.2149G>T (p.Gly717Cys)
c.2308G>T (p.Gly770Cys)
c.4438G>T (p.Gly1480Cys)
c.4558G>T (p.Gly1520Cys)
c.3637G>T (p.Gly1213Cys)
c.3457G>T (p.Gly1153Cys)
c.3217G>T (p.Gly1073Cys)
c.2836G>T (p.Gly946Cys)
c.1699G>T (p.Gly567Cys)
c.4768G>T (p.Gly1590Cys)
c.4669G>T (p.Gly1557Cys)
c.4639G>T (p.Gly1547Cys)
c.4609G>T (p.Gly1537Cys)
c.4480G>T (p.Gly1494Cys)
c.4459G>T (p.Gly1487Cys)
n.4754G>T
6g.157201033G>ACA366241619ARID1Bc.4649G>A (p.Gly1550Asp)
c.4718G>A (p.Gly1573Asp)
c.4937G>A (p.Gly1646Asp)
c.4688G>A (p.Gly1563Asp)
c.4400G>A (p.Gly1467Asp)
c.2966G>A (p.Gly989Asp)
c.2129G>A (p.Gly710Asp)
c.1760G>A (p.Gly587Asp)
n.3271G>A
n.728G>A
c.4808G>A (p.Gly1603Asp)
n.2805G>A
c.2176G>A
c.2090G>A
n.1474G>A
c.2150G>A (p.Gly717Asp)
c.2309G>A (p.Gly770Asp)
c.4439G>A (p.Gly1480Asp)
c.4559G>A (p.Gly1520Asp)
c.3638G>A (p.Gly1213Asp)
c.3458G>A (p.Gly1153Asp)
c.3218G>A (p.Gly1073Asp)
c.2837G>A (p.Gly946Asp)
c.1700G>A (p.Gly567Asp)
c.4769G>A (p.Gly1590Asp)
c.4670G>A (p.Gly1557Asp)
c.4640G>A (p.Gly1547Asp)
c.4610G>A (p.Gly1537Asp)
c.4481G>A (p.Gly1494Asp)
c.4460G>A (p.Gly1487Asp)
n.4755G>A
dbSNP gnomAD v4
6g.157201033G>CCA366241621ARID1Bc.4649G>C (p.Gly1550Ala)
c.4718G>C (p.Gly1573Ala)
c.4937G>C (p.Gly1646Ala)
c.4688G>C (p.Gly1563Ala)
c.4400G>C (p.Gly1467Ala)
c.2966G>C (p.Gly989Ala)
c.2129G>C (p.Gly710Ala)
c.1760G>C (p.Gly587Ala)
n.3271G>C
n.728G>C
c.4808G>C (p.Gly1603Ala)
n.2805G>C
c.2176G>C
c.2090G>C
n.1474G>C
c.2150G>C (p.Gly717Ala)
c.2309G>C (p.Gly770Ala)
c.4439G>C (p.Gly1480Ala)
c.4559G>C (p.Gly1520Ala)
c.3638G>C (p.Gly1213Ala)
c.3458G>C (p.Gly1153Ala)
c.3218G>C (p.Gly1073Ala)
c.2837G>C (p.Gly946Ala)
c.1700G>C (p.Gly567Ala)
c.4769G>C (p.Gly1590Ala)
c.4670G>C (p.Gly1557Ala)
c.4640G>C (p.Gly1547Ala)
c.4610G>C (p.Gly1537Ala)
c.4481G>C (p.Gly1494Ala)
c.4460G>C (p.Gly1487Ala)
n.4755G>C
6g.157201033G>TCA366241623ARID1Bc.4649G>T (p.Gly1550Val)
c.4718G>T (p.Gly1573Val)
c.4937G>T (p.Gly1646Val)
c.4688G>T (p.Gly1563Val)
c.4400G>T (p.Gly1467Val)
c.2966G>T (p.Gly989Val)
c.2129G>T (p.Gly710Val)
c.1760G>T (p.Gly587Val)
n.3271G>T
n.728G>T
c.4808G>T (p.Gly1603Val)
n.2805G>T
c.2176G>T
c.2090G>T
n.1474G>T
c.2150G>T (p.Gly717Val)
c.2309G>T (p.Gly770Val)
c.4439G>T (p.Gly1480Val)
c.4559G>T (p.Gly1520Val)
c.3638G>T (p.Gly1213Val)
c.3458G>T (p.Gly1153Val)
c.3218G>T (p.Gly1073Val)
c.2837G>T (p.Gly946Val)
c.1700G>T (p.Gly567Val)
c.4769G>T (p.Gly1590Val)
c.4670G>T (p.Gly1557Val)
c.4640G>T (p.Gly1547Val)
c.4610G>T (p.Gly1537Val)
c.4481G>T (p.Gly1494Val)
c.4460G>T (p.Gly1487Val)
n.4755G>T
gnomAD v4
6g.157201034C>ACA452978375ARID1Bc.4650C>A (p.Gly1550=)
c.4719C>A (p.Gly1573=)
c.4938C>A (p.Gly1646=)
c.4689C>A (p.Gly1563=)
c.4401C>A (p.Gly1467=)
c.2967C>A (p.Gly989=)
c.2130C>A (p.Gly710=)
c.1761C>A (p.Gly587=)
n.3272C>A
n.729C>A
c.4809C>A (p.Gly1603=)
n.2806C>A
c.2177C>A
c.2091C>A
n.1475C>A
c.2151C>A (p.Gly717=)
c.2310C>A (p.Gly770=)
c.4440C>A (p.Gly1480=)
c.4560C>A (p.Gly1520=)
c.3639C>A (p.Gly1213=)
c.3459C>A (p.Gly1153=)
c.3219C>A (p.Gly1073=)
c.2838C>A (p.Gly946=)
c.1701C>A (p.Gly567=)
c.4770C>A (p.Gly1590=)
c.4671C>A (p.Gly1557=)
c.4641C>A (p.Gly1547=)
c.4611C>A (p.Gly1537=)
c.4482C>A (p.Gly1494=)
c.4461C>A (p.Gly1487=)
n.4756C>A
6g.157201034C=CA1675522829ARID1Bc.4650C= (p.Gly1550=)
c.4719C= (p.Gly1573=)
c.4938C= (p.Gly1646=)
c.4689C= (p.Gly1563=)
c.4401C= (p.Gly1467=)
c.2967C= (p.Gly989=)
c.2130C= (p.Gly710=)
c.1761C= (p.Gly587=)
n.3272C=
n.729C=
c.4809C= (p.Gly1603=)
n.2806C=
c.2177C=
c.2091C=
n.1475C=
c.2151C= (p.Gly717=)
c.2310C= (p.Gly770=)
c.4440C= (p.Gly1480=)
c.4560C= (p.Gly1520=)
c.3639C= (p.Gly1213=)
c.3459C= (p.Gly1153=)
c.3219C= (p.Gly1073=)
c.2838C= (p.Gly946=)
c.1701C= (p.Gly567=)
c.4770C= (p.Gly1590=)
c.4671C= (p.Gly1557=)
c.4641C= (p.Gly1547=)
c.4611C= (p.Gly1537=)
c.4482C= (p.Gly1494=)
c.4461C= (p.Gly1487=)
n.4756C=
6g.157201034C>GCA452978376ARID1Bc.4650C>G (p.Gly1550=)
c.4719C>G (p.Gly1573=)
c.4938C>G (p.Gly1646=)
c.4689C>G (p.Gly1563=)
c.4401C>G (p.Gly1467=)
c.2967C>G (p.Gly989=)
c.2130C>G (p.Gly710=)
c.1761C>G (p.Gly587=)
n.3272C>G
n.729C>G
c.4809C>G (p.Gly1603=)
n.2806C>G
c.2177C>G
c.2091C>G
n.1475C>G
c.2151C>G (p.Gly717=)
c.2310C>G (p.Gly770=)
c.4440C>G (p.Gly1480=)
c.4560C>G (p.Gly1520=)
c.3639C>G (p.Gly1213=)
c.3459C>G (p.Gly1153=)
c.3219C>G (p.Gly1073=)
c.2838C>G (p.Gly946=)
c.1701C>G (p.Gly567=)
c.4770C>G (p.Gly1590=)
c.4671C>G (p.Gly1557=)
c.4641C>G (p.Gly1547=)
c.4611C>G (p.Gly1537=)
c.4482C>G (p.Gly1494=)
c.4461C>G (p.Gly1487=)
n.4756C>G
dbSNP
6g.157201034C>TCA4067713ARID1Bc.4650C>T (p.Gly1550=)
c.4719C>T (p.Gly1573=)
c.4938C>T (p.Gly1646=)
c.4689C>T (p.Gly1563=)
c.4401C>T (p.Gly1467=)
c.2967C>T (p.Gly989=)
c.2130C>T (p.Gly710=)
c.1761C>T (p.Gly587=)
n.3272C>T
n.729C>T
c.4809C>T (p.Gly1603=)
n.2806C>T
c.2177C>T
c.2091C>T
n.1475C>T
c.2151C>T (p.Gly717=)
c.2310C>T (p.Gly770=)
c.4440C>T (p.Gly1480=)
c.4560C>T (p.Gly1520=)
c.3639C>T (p.Gly1213=)
c.3459C>T (p.Gly1153=)
c.3219C>T (p.Gly1073=)
c.2838C>T (p.Gly946=)
c.1701C>T (p.Gly567=)
c.4770C>T (p.Gly1590=)
c.4671C>T (p.Gly1557=)
c.4641C>T (p.Gly1547=)
c.4611C>T (p.Gly1537=)
c.4482C>T (p.Gly1494=)
c.4461C>T (p.Gly1487=)
n.4756C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
6g.157201035C>ACA366241627ARID1Bc.4651C>A (p.Pro1551Thr)
c.4720C>A (p.Pro1574Thr)
c.4939C>A (p.Pro1647Thr)
c.4690C>A (p.Pro1564Thr)
c.4402C>A (p.Pro1468Thr)
c.2968C>A (p.Pro990Thr)
c.2131C>A (p.Pro711Thr)
c.1762C>A (p.Pro588Thr)
n.3273C>A
n.730C>A
c.4810C>A (p.Pro1604Thr)
n.2807C>A
c.2178C>A
c.2092C>A
n.1476C>A
c.2152C>A (p.Pro718Thr)
c.2311C>A (p.Pro771Thr)
c.4441C>A (p.Pro1481Thr)
c.4561C>A (p.Pro1521Thr)
c.3640C>A (p.Pro1214Thr)
c.3460C>A (p.Pro1154Thr)
c.3220C>A (p.Pro1074Thr)
c.2839C>A (p.Pro947Thr)
c.1702C>A (p.Pro568Thr)
c.4771C>A (p.Pro1591Thr)
c.4672C>A (p.Pro1558Thr)
c.4642C>A (p.Pro1548Thr)
c.4612C>A (p.Pro1538Thr)
c.4483C>A (p.Pro1495Thr)
c.4462C>A (p.Pro1488Thr)
n.4757C>A
6g.157201035C=CA1675522834ARID1Bc.4651C= (p.Pro1551=)
c.4720C= (p.Pro1574=)
c.4939C= (p.Pro1647=)
c.4690C= (p.Pro1564=)
c.4402C= (p.Pro1468=)
c.2968C= (p.Pro990=)
c.2131C= (p.Pro711=)
c.1762C= (p.Pro588=)
n.3273C=
n.730C=
c.4810C= (p.Pro1604=)
n.2807C=
c.2178C=
c.2092C=
n.1476C=
c.2152C= (p.Pro718=)
c.2311C= (p.Pro771=)
c.4441C= (p.Pro1481=)
c.4561C= (p.Pro1521=)
c.3640C= (p.Pro1214=)
c.3460C= (p.Pro1154=)
c.3220C= (p.Pro1074=)
c.2839C= (p.Pro947=)
c.1702C= (p.Pro568=)
c.4771C= (p.Pro1591=)
c.4672C= (p.Pro1558=)
c.4642C= (p.Pro1548=)
c.4612C= (p.Pro1538=)
c.4483C= (p.Pro1495=)
c.4462C= (p.Pro1488=)
n.4757C=
6g.157201035C>GCA366241631ARID1Bc.4651C>G (p.Pro1551Ala)
c.4720C>G (p.Pro1574Ala)
c.4939C>G (p.Pro1647Ala)
c.4690C>G (p.Pro1564Ala)
c.4402C>G (p.Pro1468Ala)
c.2968C>G (p.Pro990Ala)
c.2131C>G (p.Pro711Ala)
c.1762C>G (p.Pro588Ala)
n.3273C>G
n.730C>G
c.4810C>G (p.Pro1604Ala)
n.2807C>G
c.2178C>G
c.2092C>G
n.1476C>G
c.2152C>G (p.Pro718Ala)
c.2311C>G (p.Pro771Ala)
c.4441C>G (p.Pro1481Ala)
c.4561C>G (p.Pro1521Ala)
c.3640C>G (p.Pro1214Ala)
c.3460C>G (p.Pro1154Ala)
c.3220C>G (p.Pro1074Ala)
c.2839C>G (p.Pro947Ala)
c.1702C>G (p.Pro568Ala)
c.4771C>G (p.Pro1591Ala)
c.4672C>G (p.Pro1558Ala)
c.4642C>G (p.Pro1548Ala)
c.4612C>G (p.Pro1538Ala)
c.4483C>G (p.Pro1495Ala)
c.4462C>G (p.Pro1488Ala)
n.4757C>G
6g.157201035C>TCA366241629ARID1Bc.4651C>T (p.Pro1551Ser)
c.4720C>T (p.Pro1574Ser)
c.4939C>T (p.Pro1647Ser)
c.4690C>T (p.Pro1564Ser)
c.4402C>T (p.Pro1468Ser)
c.2968C>T (p.Pro990Ser)
c.2131C>T (p.Pro711Ser)
c.1762C>T (p.Pro588Ser)
n.3273C>T
n.730C>T
c.4810C>T (p.Pro1604Ser)
n.2807C>T
c.2178C>T
c.2092C>T
n.1476C>T
c.2152C>T (p.Pro718Ser)
c.2311C>T (p.Pro771Ser)
c.4441C>T (p.Pro1481Ser)
c.4561C>T (p.Pro1521Ser)
c.3640C>T (p.Pro1214Ser)
c.3460C>T (p.Pro1154Ser)
c.3220C>T (p.Pro1074Ser)
c.2839C>T (p.Pro947Ser)
c.1702C>T (p.Pro568Ser)
c.4771C>T (p.Pro1591Ser)
c.4672C>T (p.Pro1558Ser)
c.4642C>T (p.Pro1548Ser)
c.4612C>T (p.Pro1538Ser)
c.4483C>T (p.Pro1495Ser)
c.4462C>T (p.Pro1488Ser)
n.4757C>T
dbSNP gnomAD v2 gnomAD v4
6g.157201036C>ACA366241634ARID1Bc.4652C>A (p.Pro1551His)
c.4721C>A (p.Pro1574His)
c.4940C>A (p.Pro1647His)
c.4691C>A (p.Pro1564His)
c.4403C>A (p.Pro1468His)
c.2969C>A (p.Pro990His)
c.2132C>A (p.Pro711His)
c.1763C>A (p.Pro588His)
n.3274C>A
n.731C>A
c.4811C>A (p.Pro1604His)
n.2808C>A
c.2179C>A
c.2093C>A
n.1477C>A
c.2153C>A (p.Pro718His)
c.2312C>A (p.Pro771His)
c.4442C>A (p.Pro1481His)
c.4562C>A (p.Pro1521His)
c.3641C>A (p.Pro1214His)
c.3461C>A (p.Pro1154His)
c.3221C>A (p.Pro1074His)
c.2840C>A (p.Pro947His)
c.1703C>A (p.Pro568His)
c.4772C>A (p.Pro1591His)
c.4673C>A (p.Pro1558His)
c.4643C>A (p.Pro1548His)
c.4613C>A (p.Pro1538His)
c.4484C>A (p.Pro1495His)
c.4463C>A (p.Pro1488His)
n.4758C>A
6g.157201036C>GCA366241636ARID1Bc.4652C>G (p.Pro1551Arg)
c.4721C>G (p.Pro1574Arg)
c.4940C>G (p.Pro1647Arg)
c.4691C>G (p.Pro1564Arg)
c.4403C>G (p.Pro1468Arg)
c.2969C>G (p.Pro990Arg)
c.2132C>G (p.Pro711Arg)
c.1763C>G (p.Pro588Arg)
n.3274C>G
n.731C>G
c.4811C>G (p.Pro1604Arg)
n.2808C>G
c.2179C>G
c.2093C>G
n.1477C>G
c.2153C>G (p.Pro718Arg)
c.2312C>G (p.Pro771Arg)
c.4442C>G (p.Pro1481Arg)
c.4562C>G (p.Pro1521Arg)
c.3641C>G (p.Pro1214Arg)
c.3461C>G (p.Pro1154Arg)
c.3221C>G (p.Pro1074Arg)
c.2840C>G (p.Pro947Arg)
c.1703C>G (p.Pro568Arg)
c.4772C>G (p.Pro1591Arg)
c.4673C>G (p.Pro1558Arg)
c.4643C>G (p.Pro1548Arg)
c.4613C>G (p.Pro1538Arg)
c.4484C>G (p.Pro1495Arg)
c.4463C>G (p.Pro1488Arg)
n.4758C>G
6g.157201036C>TCA366241638ARID1Bc.4652C>T (p.Pro1551Leu)
c.4721C>T (p.Pro1574Leu)
c.4940C>T (p.Pro1647Leu)
c.4691C>T (p.Pro1564Leu)
c.4403C>T (p.Pro1468Leu)
c.2969C>T (p.Pro990Leu)
c.2132C>T (p.Pro711Leu)
c.1763C>T (p.Pro588Leu)
n.3274C>T
n.731C>T
c.4811C>T (p.Pro1604Leu)
n.2808C>T
c.2179C>T
c.2093C>T
n.1477C>T
c.2153C>T (p.Pro718Leu)
c.2312C>T (p.Pro771Leu)
c.4442C>T (p.Pro1481Leu)
c.4562C>T (p.Pro1521Leu)
c.3641C>T (p.Pro1214Leu)
c.3461C>T (p.Pro1154Leu)
c.3221C>T (p.Pro1074Leu)
c.2840C>T (p.Pro947Leu)
c.1703C>T (p.Pro568Leu)
c.4772C>T (p.Pro1591Leu)
c.4673C>T (p.Pro1558Leu)
c.4643C>T (p.Pro1548Leu)
c.4613C>T (p.Pro1538Leu)
c.4484C>T (p.Pro1495Leu)
c.4463C>T (p.Pro1488Leu)
n.4758C>T
6g.157201037T>ACA452978382ARID1Bc.4653T>A (p.Pro1551=)
c.4722T>A (p.Pro1574=)
c.4941T>A (p.Pro1647=)
c.4692T>A (p.Pro1564=)
c.4404T>A (p.Pro1468=)
c.2970T>A (p.Pro990=)
c.2133T>A (p.Pro711=)
c.1764T>A (p.Pro588=)
n.3275T>A
n.732T>A
c.4812T>A (p.Pro1604=)
n.2809T>A
c.2180T>A
c.2094T>A
n.1478T>A
c.2154T>A (p.Pro718=)
c.2313T>A (p.Pro771=)
c.4443T>A (p.Pro1481=)
c.4563T>A (p.Pro1521=)
c.3642T>A (p.Pro1214=)
c.3462T>A (p.Pro1154=)
c.3222T>A (p.Pro1074=)
c.2841T>A (p.Pro947=)
c.1704T>A (p.Pro568=)
c.4773T>A (p.Pro1591=)
c.4674T>A (p.Pro1558=)
c.4644T>A (p.Pro1548=)
c.4614T>A (p.Pro1538=)
c.4485T>A (p.Pro1495=)
c.4464T>A (p.Pro1488=)
n.4759T>A
6g.157201037T>CCA150370146ARID1Bc.4653T>C (p.Pro1551=)
c.4722T>C (p.Pro1574=)
c.4941T>C (p.Pro1647=)
c.4692T>C (p.Pro1564=)
c.4404T>C (p.Pro1468=)
c.2970T>C (p.Pro990=)
c.2133T>C (p.Pro711=)
c.1764T>C (p.Pro588=)
n.3275T>C
n.732T>C
c.4812T>C (p.Pro1604=)
n.2809T>C
c.2180T>C
c.2094T>C
n.1478T>C
c.2154T>C (p.Pro718=)
c.2313T>C (p.Pro771=)
c.4443T>C (p.Pro1481=)
c.4563T>C (p.Pro1521=)
c.3642T>C (p.Pro1214=)
c.3462T>C (p.Pro1154=)
c.3222T>C (p.Pro1074=)
c.2841T>C (p.Pro947=)
c.1704T>C (p.Pro568=)
c.4773T>C (p.Pro1591=)
c.4674T>C (p.Pro1558=)
c.4644T>C (p.Pro1548=)
c.4614T>C (p.Pro1538=)
c.4485T>C (p.Pro1495=)
c.4464T>C (p.Pro1488=)
n.4759T>C
dbSNP
6g.157201037T>GCA4067714ARID1Bc.4653T>G (p.Pro1551=)
c.4722T>G (p.Pro1574=)
c.4941T>G (p.Pro1647=)
c.4692T>G (p.Pro1564=)
c.4404T>G (p.Pro1468=)
c.2970T>G (p.Pro990=)
c.2133T>G (p.Pro711=)
c.1764T>G (p.Pro588=)
n.3275T>G
n.732T>G
c.4812T>G (p.Pro1604=)
n.2809T>G
c.2180T>G
c.2094T>G
n.1478T>G
c.2154T>G (p.Pro718=)
c.2313T>G (p.Pro771=)
c.4443T>G (p.Pro1481=)
c.4563T>G (p.Pro1521=)
c.3642T>G (p.Pro1214=)
c.3462T>G (p.Pro1154=)
c.3222T>G (p.Pro1074=)
c.2841T>G (p.Pro947=)
c.1704T>G (p.Pro568=)
c.4773T>G (p.Pro1591=)
c.4674T>G (p.Pro1558=)
c.4644T>G (p.Pro1548=)
c.4614T>G (p.Pro1538=)
c.4485T>G (p.Pro1495=)
c.4464T>G (p.Pro1488=)
n.4759T>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.157201037T=CA1675522837ARID1Bc.4653T= (p.Pro1551=)
c.4722T= (p.Pro1574=)
c.4941T= (p.Pro1647=)
c.4692T= (p.Pro1564=)
c.4404T= (p.Pro1468=)
c.2970T= (p.Pro990=)
c.2133T= (p.Pro711=)
c.1764T= (p.Pro588=)
n.3275T=
n.732T=
c.4812T= (p.Pro1604=)
n.2809T=
c.2180T=
c.2094T=
n.1478T=
c.2154T= (p.Pro718=)
c.2313T= (p.Pro771=)
c.4443T= (p.Pro1481=)
c.4563T= (p.Pro1521=)
c.3642T= (p.Pro1214=)
c.3462T= (p.Pro1154=)
c.3222T= (p.Pro1074=)
c.2841T= (p.Pro947=)
c.1704T= (p.Pro568=)
c.4773T= (p.Pro1591=)
c.4674T= (p.Pro1558=)
c.4644T= (p.Pro1548=)
c.4614T= (p.Pro1538=)
c.4485T= (p.Pro1495=)
c.4464T= (p.Pro1488=)
n.4759T=
6g.157201038G>ACA366241645ARID1Bc.4654G>A (p.Gly1552Ser)
c.4723G>A (p.Gly1575Ser)
c.4942G>A (p.Gly1648Ser)
c.4693G>A (p.Gly1565Ser)
c.4405G>A (p.Gly1469Ser)
c.2971G>A (p.Gly991Ser)
c.2134G>A (p.Gly712Ser)
c.1765G>A (p.Gly589Ser)
n.3276G>A
n.733G>A
c.4813G>A (p.Gly1605Ser)
n.2810G>A
c.2181G>A
c.2095G>A
n.1479G>A
c.2155G>A (p.Gly719Ser)
c.2314G>A (p.Gly772Ser)
c.4444G>A (p.Gly1482Ser)
c.4564G>A (p.Gly1522Ser)
c.3643G>A (p.Gly1215Ser)
c.3463G>A (p.Gly1155Ser)
c.3223G>A (p.Gly1075Ser)
c.2842G>A (p.Gly948Ser)
c.1705G>A (p.Gly569Ser)
c.4774G>A (p.Gly1592Ser)
c.4675G>A (p.Gly1559Ser)
c.4645G>A (p.Gly1549Ser)
c.4615G>A (p.Gly1539Ser)
c.4486G>A (p.Gly1496Ser)
c.4465G>A (p.Gly1489Ser)
n.4760G>A
dbSNP gnomAD v4
6g.157201038G>CCA366241647ARID1Bc.4654G>C (p.Gly1552Arg)
c.4723G>C (p.Gly1575Arg)
c.4942G>C (p.Gly1648Arg)
c.4693G>C (p.Gly1565Arg)
c.4405G>C (p.Gly1469Arg)
c.2971G>C (p.Gly991Arg)
c.2134G>C (p.Gly712Arg)
c.1765G>C (p.Gly589Arg)
n.3276G>C
n.733G>C
c.4813G>C (p.Gly1605Arg)
n.2810G>C
c.2181G>C
c.2095G>C
n.1479G>C
c.2155G>C (p.Gly719Arg)
c.2314G>C (p.Gly772Arg)
c.4444G>C (p.Gly1482Arg)
c.4564G>C (p.Gly1522Arg)
c.3643G>C (p.Gly1215Arg)
c.3463G>C (p.Gly1155Arg)
c.3223G>C (p.Gly1075Arg)
c.2842G>C (p.Gly948Arg)
c.1705G>C (p.Gly569Arg)
c.4774G>C (p.Gly1592Arg)
c.4675G>C (p.Gly1559Arg)
c.4645G>C (p.Gly1549Arg)
c.4615G>C (p.Gly1539Arg)
c.4486G>C (p.Gly1496Arg)
c.4465G>C (p.Gly1489Arg)
n.4760G>C
dbSNP
6g.157201038G>TCA366241649ARID1Bc.4654G>T (p.Gly1552Cys)
c.4723G>T (p.Gly1575Cys)
c.4942G>T (p.Gly1648Cys)
c.4693G>T (p.Gly1565Cys)
c.4405G>T (p.Gly1469Cys)
c.2971G>T (p.Gly991Cys)
c.2134G>T (p.Gly712Cys)
c.1765G>T (p.Gly589Cys)
n.3276G>T
n.733G>T
c.4813G>T (p.Gly1605Cys)
n.2810G>T
c.2181G>T
c.2095G>T
n.1479G>T
c.2155G>T (p.Gly719Cys)
c.2314G>T (p.Gly772Cys)
c.4444G>T (p.Gly1482Cys)
c.4564G>T (p.Gly1522Cys)
c.3643G>T (p.Gly1215Cys)
c.3463G>T (p.Gly1155Cys)
c.3223G>T (p.Gly1075Cys)
c.2842G>T (p.Gly948Cys)
c.1705G>T (p.Gly569Cys)
c.4774G>T (p.Gly1592Cys)
c.4675G>T (p.Gly1559Cys)
c.4645G>T (p.Gly1549Cys)
c.4615G>T (p.Gly1539Cys)
c.4486G>T (p.Gly1496Cys)
c.4465G>T (p.Gly1489Cys)
n.4760G>T
6g.157201039delCA452978385ARID1Bc.4655del (p.Gly1552AlafsTer12)
c.4724del (p.Gly1575AlafsTer12)
c.4943del (p.Gly1648AlafsTer12)
c.4694del (p.Gly1565AlafsTer12)
c.4406del (p.Gly1469AlafsTer12)
c.2972del (p.Gly991AlafsTer12)
c.2135del (p.Gly712AlafsTer12)
c.1766del (p.Gly589AlafsTer12)
n.3277del
n.734del
c.4814del (p.Gly1605AlafsTer12)
n.2811del
c.2182del
c.2096del
n.1480del
c.2156del (p.Gly719AlafsTer12)
c.2315del (p.Gly772AlafsTer12)
c.4445del (p.Gly1482AlafsTer12)
c.4565del (p.Gly1522AlafsTer12)
c.3644del (p.Gly1215AlafsTer12)
c.3464del (p.Gly1155AlafsTer12)
c.3224del (p.Gly1075AlafsTer12)
c.2843del (p.Gly948AlafsTer12)
c.1706del (p.Gly569AlafsTer12)
c.4775del (p.Gly1592AlafsTer12)
c.4676del (p.Gly1559AlafsTer12)
c.4646del (p.Gly1549AlafsTer12)
c.4616del (p.Gly1539AlafsTer12)
c.4487del (p.Gly1496AlafsTer12)
c.4466del (p.Gly1489AlafsTer12)
n.4761del
COSMIC COSMIC
6g.157201039G>ACA366241653ARID1Bc.4655G>A (p.Gly1552Asp)
c.4724G>A (p.Gly1575Asp)
c.4943G>A (p.Gly1648Asp)
c.4694G>A (p.Gly1565Asp)
c.4406G>A (p.Gly1469Asp)
c.2972G>A (p.Gly991Asp)
c.2135G>A (p.Gly712Asp)
c.1766G>A (p.Gly589Asp)
n.3277G>A
n.734G>A
c.4814G>A (p.Gly1605Asp)
n.2811G>A
c.2182G>A
c.2096G>A
n.1480G>A
c.2156G>A (p.Gly719Asp)
c.2315G>A (p.Gly772Asp)
c.4445G>A (p.Gly1482Asp)
c.4565G>A (p.Gly1522Asp)
c.3644G>A (p.Gly1215Asp)
c.3464G>A (p.Gly1155Asp)
c.3224G>A (p.Gly1075Asp)
c.2843G>A (p.Gly948Asp)
c.1706G>A (p.Gly569Asp)
c.4775G>A (p.Gly1592Asp)
c.4676G>A (p.Gly1559Asp)
c.4646G>A (p.Gly1549Asp)
c.4616G>A (p.Gly1539Asp)
c.4487G>A (p.Gly1496Asp)
c.4466G>A (p.Gly1489Asp)
n.4761G>A
dbSNP gnomAD v2 gnomAD v4
6g.157201039G>CCA4067715ARID1Bc.4655G>C (p.Gly1552Ala)
c.4724G>C (p.Gly1575Ala)
c.4943G>C (p.Gly1648Ala)
c.4694G>C (p.Gly1565Ala)
c.4406G>C (p.Gly1469Ala)
c.2972G>C (p.Gly991Ala)
c.2135G>C (p.Gly712Ala)
c.1766G>C (p.Gly589Ala)
n.3277G>C
n.734G>C
c.4814G>C (p.Gly1605Ala)
n.2811G>C
c.2182G>C
c.2096G>C
n.1480G>C
c.2156G>C (p.Gly719Ala)
c.2315G>C (p.Gly772Ala)
c.4445G>C (p.Gly1482Ala)
c.4565G>C (p.Gly1522Ala)
c.3644G>C (p.Gly1215Ala)
c.3464G>C (p.Gly1155Ala)
c.3224G>C (p.Gly1075Ala)
c.2843G>C (p.Gly948Ala)
c.1706G>C (p.Gly569Ala)
c.4775G>C (p.Gly1592Ala)
c.4676G>C (p.Gly1559Ala)
c.4646G>C (p.Gly1549Ala)
c.4616G>C (p.Gly1539Ala)
c.4487G>C (p.Gly1496Ala)
c.4466G>C (p.Gly1489Ala)
n.4761G>C
dbSNP ExAC gnomAD v2 gnomAD v4
6g.157201039G=CA1675522846ARID1Bc.4655G= (p.Gly1552=)
c.4724G= (p.Gly1575=)
c.4943G= (p.Gly1648=)
c.4694G= (p.Gly1565=)
c.4406G= (p.Gly1469=)
c.2972G= (p.Gly991=)
c.2135G= (p.Gly712=)
c.1766G= (p.Gly589=)
n.3277G=
n.734G=
c.4814G= (p.Gly1605=)
n.2811G=
c.2182G=
c.2096G=
n.1480G=
c.2156G= (p.Gly719=)
c.2315G= (p.Gly772=)
c.4445G= (p.Gly1482=)
c.4565G= (p.Gly1522=)
c.3644G= (p.Gly1215=)
c.3464G= (p.Gly1155=)
c.3224G= (p.Gly1075=)
c.2843G= (p.Gly948=)
c.1706G= (p.Gly569=)
c.4775G= (p.Gly1592=)
c.4676G= (p.Gly1559=)
c.4646G= (p.Gly1549=)
c.4616G= (p.Gly1539=)
c.4487G= (p.Gly1496=)
c.4466G= (p.Gly1489=)
n.4761G=
6g.157201039G>TCA366241657ARID1Bc.4655G>T (p.Gly1552Val)
c.4724G>T (p.Gly1575Val)
c.4943G>T (p.Gly1648Val)
c.4694G>T (p.Gly1565Val)
c.4406G>T (p.Gly1469Val)
c.2972G>T (p.Gly991Val)
c.2135G>T (p.Gly712Val)
c.1766G>T (p.Gly589Val)
n.3277G>T
n.734G>T
c.4814G>T (p.Gly1605Val)
n.2811G>T
c.2182G>T
c.2096G>T
n.1480G>T
c.2156G>T (p.Gly719Val)
c.2315G>T (p.Gly772Val)
c.4445G>T (p.Gly1482Val)
c.4565G>T (p.Gly1522Val)
c.3644G>T (p.Gly1215Val)
c.3464G>T (p.Gly1155Val)
c.3224G>T (p.Gly1075Val)
c.2843G>T (p.Gly948Val)
c.1706G>T (p.Gly569Val)
c.4775G>T (p.Gly1592Val)
c.4676G>T (p.Gly1559Val)
c.4646G>T (p.Gly1549Val)
c.4616G>T (p.Gly1539Val)
c.4487G>T (p.Gly1496Val)
c.4466G>T (p.Gly1489Val)
n.4761G>T
gnomAD v4
6g.157201040C>ACA452978390ARID1Bc.4656C>A (p.Gly1552=)
c.4725C>A (p.Gly1575=)
c.4944C>A (p.Gly1648=)
c.4695C>A (p.Gly1565=)
c.4407C>A (p.Gly1469=)
c.2973C>A (p.Gly991=)
c.2136C>A (p.Gly712=)
c.1767C>A (p.Gly589=)
n.3278C>A
n.735C>A
c.4815C>A (p.Gly1605=)
n.2812C>A
c.2183C>A
c.2097C>A
n.1481C>A
c.2157C>A (p.Gly719=)
c.2316C>A (p.Gly772=)
c.4446C>A (p.Gly1482=)
c.4566C>A (p.Gly1522=)
c.3645C>A (p.Gly1215=)
c.3465C>A (p.Gly1155=)
c.3225C>A (p.Gly1075=)
c.2844C>A (p.Gly948=)
c.1707C>A (p.Gly569=)
c.4776C>A (p.Gly1592=)
c.4677C>A (p.Gly1559=)
c.4647C>A (p.Gly1549=)
c.4617C>A (p.Gly1539=)
c.4488C>A (p.Gly1496=)
c.4467C>A (p.Gly1489=)
n.4762C>A
6g.157201040C=CA1675522852ARID1Bc.4656C= (p.Gly1552=)
c.4725C= (p.Gly1575=)
c.4944C= (p.Gly1648=)
c.4695C= (p.Gly1565=)
c.4407C= (p.Gly1469=)
c.2973C= (p.Gly991=)
c.2136C= (p.Gly712=)
c.1767C= (p.Gly589=)
n.3278C=
n.735C=
c.4815C= (p.Gly1605=)
n.2812C=
c.2183C=
c.2097C=
n.1481C=
c.2157C= (p.Gly719=)
c.2316C= (p.Gly772=)
c.4446C= (p.Gly1482=)
c.4566C= (p.Gly1522=)
c.3645C= (p.Gly1215=)
c.3465C= (p.Gly1155=)
c.3225C= (p.Gly1075=)
c.2844C= (p.Gly948=)
c.1707C= (p.Gly569=)
c.4776C= (p.Gly1592=)
c.4677C= (p.Gly1559=)
c.4647C= (p.Gly1549=)
c.4617C= (p.Gly1539=)
c.4488C= (p.Gly1496=)
c.4467C= (p.Gly1489=)
n.4762C=
6g.157201040C>GCA452978389ARID1Bc.4656C>G (p.Gly1552=)
c.4725C>G (p.Gly1575=)
c.4944C>G (p.Gly1648=)
c.4695C>G (p.Gly1565=)
c.4407C>G (p.Gly1469=)
c.2973C>G (p.Gly991=)
c.2136C>G (p.Gly712=)
c.1767C>G (p.Gly589=)
n.3278C>G
n.735C>G
c.4815C>G (p.Gly1605=)
n.2812C>G
c.2183C>G
c.2097C>G
n.1481C>G
c.2157C>G (p.Gly719=)
c.2316C>G (p.Gly772=)
c.4446C>G (p.Gly1482=)
c.4566C>G (p.Gly1522=)
c.3645C>G (p.Gly1215=)
c.3465C>G (p.Gly1155=)
c.3225C>G (p.Gly1075=)
c.2844C>G (p.Gly948=)
c.1707C>G (p.Gly569=)
c.4776C>G (p.Gly1592=)
c.4677C>G (p.Gly1559=)
c.4647C>G (p.Gly1549=)
c.4617C>G (p.Gly1539=)
c.4488C>G (p.Gly1496=)
c.4467C>G (p.Gly1489=)
n.4762C>G
6g.157201040C>TCA4067716ARID1Bc.4656C>T (p.Gly1552=)
c.4725C>T (p.Gly1575=)
c.4944C>T (p.Gly1648=)
c.4695C>T (p.Gly1565=)
c.4407C>T (p.Gly1469=)
c.2973C>T (p.Gly991=)
c.2136C>T (p.Gly712=)
c.1767C>T (p.Gly589=)
n.3278C>T
n.735C>T
c.4815C>T (p.Gly1605=)
n.2812C>T
c.2183C>T
c.2097C>T
n.1481C>T
c.2157C>T (p.Gly719=)
c.2316C>T (p.Gly772=)
c.4446C>T (p.Gly1482=)
c.4566C>T (p.Gly1522=)
c.3645C>T (p.Gly1215=)
c.3465C>T (p.Gly1155=)
c.3225C>T (p.Gly1075=)
c.2844C>T (p.Gly948=)
c.1707C>T (p.Gly569=)
c.4776C>T (p.Gly1592=)
c.4677C>T (p.Gly1559=)
c.4647C>T (p.Gly1549=)
c.4617C>T (p.Gly1539=)
c.4488C>T (p.Gly1496=)
c.4467C>T (p.Gly1489=)
n.4762C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.157201041G>ACA150370153ARID1Bc.4657G>A (p.Gly1553Ser)
c.4726G>A (p.Gly1576Ser)
c.4945G>A (p.Gly1649Ser)
c.4696G>A (p.Gly1566Ser)
c.4408G>A (p.Gly1470Ser)
c.2974G>A (p.Gly992Ser)
c.2137G>A (p.Gly713Ser)
c.1768G>A (p.Gly590Ser)
n.3279G>A
n.736G>A
c.4816G>A (p.Gly1606Ser)
n.2813G>A
c.2184G>A
c.2098G>A
n.1482G>A
c.2158G>A (p.Gly720Ser)
c.2317G>A (p.Gly773Ser)
c.4447G>A (p.Gly1483Ser)
c.4567G>A (p.Gly1523Ser)
c.3646G>A (p.Gly1216Ser)
c.3466G>A (p.Gly1156Ser)
c.3226G>A (p.Gly1076Ser)
c.2845G>A (p.Gly949Ser)
c.1708G>A (p.Gly570Ser)
c.4777G>A (p.Gly1593Ser)
c.4678G>A (p.Gly1560Ser)
c.4648G>A (p.Gly1550Ser)
c.4618G>A (p.Gly1540Ser)
c.4489G>A (p.Gly1497Ser)
c.4468G>A (p.Gly1490Ser)
n.4763G>A
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.157201041G>CCA366241664ARID1Bc.4657G>C (p.Gly1553Arg)
c.4726G>C (p.Gly1576Arg)
c.4945G>C (p.Gly1649Arg)
c.4696G>C (p.Gly1566Arg)
c.4408G>C (p.Gly1470Arg)
c.2974G>C (p.Gly992Arg)
c.2137G>C (p.Gly713Arg)
c.1768G>C (p.Gly590Arg)
n.3279G>C
n.736G>C
c.4816G>C (p.Gly1606Arg)
n.2813G>C
c.2184G>C
c.2098G>C
n.1482G>C
c.2158G>C (p.Gly720Arg)
c.2317G>C (p.Gly773Arg)
c.4447G>C (p.Gly1483Arg)
c.4567G>C (p.Gly1523Arg)
c.3646G>C (p.Gly1216Arg)
c.3466G>C (p.Gly1156Arg)
c.3226G>C (p.Gly1076Arg)
c.2845G>C (p.Gly949Arg)
c.1708G>C (p.Gly570Arg)
c.4777G>C (p.Gly1593Arg)
c.4678G>C (p.Gly1560Arg)
c.4648G>C (p.Gly1550Arg)
c.4618G>C (p.Gly1540Arg)
c.4489G>C (p.Gly1497Arg)
c.4468G>C (p.Gly1490Arg)
n.4763G>C
6g.157201041G=CA1675522860ARID1Bc.4657G= (p.Gly1553=)
c.4726G= (p.Gly1576=)
c.4945G= (p.Gly1649=)
c.4696G= (p.Gly1566=)
c.4408G= (p.Gly1470=)
c.2974G= (p.Gly992=)
c.2137G= (p.Gly713=)
c.1768G= (p.Gly590=)
n.3279G=
n.736G=
c.4816G= (p.Gly1606=)
n.2813G=
c.2184G=
c.2098G=
n.1482G=
c.2158G= (p.Gly720=)
c.2317G= (p.Gly773=)
c.4447G= (p.Gly1483=)
c.4567G= (p.Gly1523=)
c.3646G= (p.Gly1216=)
c.3466G= (p.Gly1156=)
c.3226G= (p.Gly1076=)
c.2845G= (p.Gly949=)
c.1708G= (p.Gly570=)
c.4777G= (p.Gly1593=)
c.4678G= (p.Gly1560=)
c.4648G= (p.Gly1550=)
c.4618G= (p.Gly1540=)
c.4489G= (p.Gly1497=)
c.4468G= (p.Gly1490=)
n.4763G=
6g.157201041G>TCA366241661ARID1Bc.4657G>T (p.Gly1553Cys)
c.4726G>T (p.Gly1576Cys)
c.4945G>T (p.Gly1649Cys)
c.4696G>T (p.Gly1566Cys)
c.4408G>T (p.Gly1470Cys)
c.2974G>T (p.Gly992Cys)
c.2137G>T (p.Gly713Cys)
c.1768G>T (p.Gly590Cys)
n.3279G>T
n.736G>T
c.4816G>T (p.Gly1606Cys)
n.2813G>T
c.2184G>T
c.2098G>T
n.1482G>T
c.2158G>T (p.Gly720Cys)
c.2317G>T (p.Gly773Cys)
c.4447G>T (p.Gly1483Cys)
c.4567G>T (p.Gly1523Cys)
c.3646G>T (p.Gly1216Cys)
c.3466G>T (p.Gly1156Cys)
c.3226G>T (p.Gly1076Cys)
c.2845G>T (p.Gly949Cys)
c.1708G>T (p.Gly570Cys)
c.4777G>T (p.Gly1593Cys)
c.4678G>T (p.Gly1560Cys)
c.4648G>T (p.Gly1550Cys)
c.4618G>T (p.Gly1540Cys)
c.4489G>T (p.Gly1497Cys)
c.4468G>T (p.Gly1490Cys)
n.4763G>T
COSMIC COSMIC
6g.157201042G>ACA366241667ARID1Bc.4658G>A (p.Gly1553Asp)
c.4727G>A (p.Gly1576Asp)
c.4946G>A (p.Gly1649Asp)
c.4697G>A (p.Gly1566Asp)
c.4409G>A (p.Gly1470Asp)
c.2975G>A (p.Gly992Asp)
c.2138G>A (p.Gly713Asp)
c.1769G>A (p.Gly590Asp)
n.3280G>A
n.737G>A
c.4817G>A (p.Gly1606Asp)
n.2814G>A
c.2185G>A
c.2099G>A
n.1483G>A
c.2159G>A (p.Gly720Asp)
c.2318G>A (p.Gly773Asp)
c.4448G>A (p.Gly1483Asp)
c.4568G>A (p.Gly1523Asp)
c.3647G>A (p.Gly1216Asp)
c.3467G>A (p.Gly1156Asp)
c.3227G>A (p.Gly1076Asp)
c.2846G>A (p.Gly949Asp)
c.1709G>A (p.Gly570Asp)
c.4778G>A (p.Gly1593Asp)
c.4679G>A (p.Gly1560Asp)
c.4649G>A (p.Gly1550Asp)
c.4619G>A (p.Gly1540Asp)
c.4490G>A (p.Gly1497Asp)
c.4469G>A (p.Gly1490Asp)
n.4764G>A
dbSNP
6g.157201042G>CCA366241670ARID1Bc.4658G>C (p.Gly1553Ala)
c.4727G>C (p.Gly1576Ala)
c.4946G>C (p.Gly1649Ala)
c.4697G>C (p.Gly1566Ala)
c.4409G>C (p.Gly1470Ala)
c.2975G>C (p.Gly992Ala)
c.2138G>C (p.Gly713Ala)
c.1769G>C (p.Gly590Ala)
n.3280G>C
n.737G>C
c.4817G>C (p.Gly1606Ala)
n.2814G>C
c.2185G>C
c.2099G>C
n.1483G>C
c.2159G>C (p.Gly720Ala)
c.2318G>C (p.Gly773Ala)
c.4448G>C (p.Gly1483Ala)
c.4568G>C (p.Gly1523Ala)
c.3647G>C (p.Gly1216Ala)
c.3467G>C (p.Gly1156Ala)
c.3227G>C (p.Gly1076Ala)
c.2846G>C (p.Gly949Ala)
c.1709G>C (p.Gly570Ala)
c.4778G>C (p.Gly1593Ala)
c.4679G>C (p.Gly1560Ala)
c.4649G>C (p.Gly1550Ala)
c.4619G>C (p.Gly1540Ala)
c.4490G>C (p.Gly1497Ala)
c.4469G>C (p.Gly1490Ala)
n.4764G>C
6g.157201042G>TCA366241672ARID1Bc.4658G>T (p.Gly1553Val)
c.4727G>T (p.Gly1576Val)
c.4946G>T (p.Gly1649Val)
c.4697G>T (p.Gly1566Val)
c.4409G>T (p.Gly1470Val)
c.2975G>T (p.Gly992Val)
c.2138G>T (p.Gly713Val)
c.1769G>T (p.Gly590Val)
n.3280G>T
n.737G>T
c.4817G>T (p.Gly1606Val)
n.2814G>T
c.2185G>T
c.2099G>T
n.1483G>T
c.2159G>T (p.Gly720Val)
c.2318G>T (p.Gly773Val)
c.4448G>T (p.Gly1483Val)
c.4568G>T (p.Gly1523Val)
c.3647G>T (p.Gly1216Val)
c.3467G>T (p.Gly1156Val)
c.3227G>T (p.Gly1076Val)
c.2846G>T (p.Gly949Val)
c.1709G>T (p.Gly570Val)
c.4778G>T (p.Gly1593Val)
c.4679G>T (p.Gly1560Val)
c.4649G>T (p.Gly1550Val)
c.4619G>T (p.Gly1540Val)
c.4490G>T (p.Gly1497Val)
c.4469G>T (p.Gly1490Val)
n.4764G>T
6g.157201042_157201043insACCTACACAGGCGCCA2695207269ARID1Bc.4658_4659insACCTACACAGGCGC (p.Pro1559LeufsTer10)
c.4727_4728insACCTACACAGGCGC (p.Pro1582LeufsTer10)
c.4946_4947insACCTACACAGGCGC (p.Pro1655LeufsTer10)
c.4697_4698insACCTACACAGGCGC (p.Pro1572LeufsTer10)
c.4409_4410insACCTACACAGGCGC (p.Pro1476LeufsTer10)
c.2975_2976insACCTACACAGGCGC (p.Pro998LeufsTer10)
c.2138_2139insACCTACACAGGCGC (p.Pro719LeufsTer10)
c.1769_1770insACCTACACAGGCGC (p.Pro596LeufsTer10)
n.3280_3281insACCTACACAGGCGC
n.737_738insACCTACACAGGCGC
c.4817_4818insACCTACACAGGCGC (p.Pro1612LeufsTer10)
n.2814_2815insACCTACACAGGCGC
c.2185_2186insACCTACACAGGCGC
c.2099_2100insACCTACACAGGCGC
n.1483_1484insACCTACACAGGCGC
c.2159_2160insACCTACACAGGCGC (p.Pro726LeufsTer10)
c.2318_2319insACCTACACAGGCGC (p.Pro779LeufsTer10)
c.4448_4449insACCTACACAGGCGC (p.Pro1489LeufsTer10)
c.4568_4569insACCTACACAGGCGC (p.Pro1529LeufsTer10)
c.3647_3648insACCTACACAGGCGC (p.Pro1222LeufsTer10)
c.3467_3468insACCTACACAGGCGC (p.Pro1162LeufsTer10)
c.3227_3228insACCTACACAGGCGC (p.Pro1082LeufsTer10)
c.2846_2847insACCTACACAGGCGC (p.Pro955LeufsTer10)
c.1709_1710insACCTACACAGGCGC (p.Pro576LeufsTer10)
c.4778_4779insACCTACACAGGCGC (p.Pro1599LeufsTer10)
c.4679_4680insACCTACACAGGCGC (p.Pro1566LeufsTer10)
c.4649_4650insACCTACACAGGCGC (p.Pro1556LeufsTer10)
c.4619_4620insACCTACACAGGCGC (p.Pro1546LeufsTer10)
c.4490_4491insACCTACACAGGCGC (p.Pro1503LeufsTer10)
c.4469_4470insACCTACACAGGCGC (p.Pro1496LeufsTer10)
n.4764_4765insACCTACACAGGCGC
6g.157201043C>ACA452978392ARID1Bc.4659C>A (p.Gly1553=)
c.4728C>A (p.Gly1576=)
c.4947C>A (p.Gly1649=)
c.4698C>A (p.Gly1566=)
c.4410C>A (p.Gly1470=)
c.2976C>A (p.Gly992=)
c.2139C>A (p.Gly713=)
c.1770C>A (p.Gly590=)
n.3281C>A
n.738C>A
c.4818C>A (p.Gly1606=)
n.2815C>A
c.2186C>A
c.2100C>A
n.1484C>A
c.2160C>A (p.Gly720=)
c.2319C>A (p.Gly773=)
c.4449C>A (p.Gly1483=)
c.4569C>A (p.Gly1523=)
c.3648C>A (p.Gly1216=)
c.3468C>A (p.Gly1156=)
c.3228C>A (p.Gly1076=)
c.2847C>A (p.Gly949=)
c.1710C>A (p.Gly570=)
c.4779C>A (p.Gly1593=)
c.4680C>A (p.Gly1560=)
c.4650C>A (p.Gly1550=)
c.4620C>A (p.Gly1540=)
c.4491C>A (p.Gly1497=)
c.4470C>A (p.Gly1490=)
n.4765C>A
dbSNP gnomAD v4
6g.157201043C>GCA452978393ARID1Bc.4659C>G (p.Gly1553=)
c.4728C>G (p.Gly1576=)
c.4947C>G (p.Gly1649=)
c.4698C>G (p.Gly1566=)
c.4410C>G (p.Gly1470=)
c.2976C>G (p.Gly992=)
c.2139C>G (p.Gly713=)
c.1770C>G (p.Gly590=)
n.3281C>G
n.738C>G
c.4818C>G (p.Gly1606=)
n.2815C>G
c.2186C>G
c.2100C>G
n.1484C>G
c.2160C>G (p.Gly720=)
c.2319C>G (p.Gly773=)
c.4449C>G (p.Gly1483=)
c.4569C>G (p.Gly1523=)
c.3648C>G (p.Gly1216=)
c.3468C>G (p.Gly1156=)
c.3228C>G (p.Gly1076=)
c.2847C>G (p.Gly949=)
c.1710C>G (p.Gly570=)
c.4779C>G (p.Gly1593=)
c.4680C>G (p.Gly1560=)
c.4650C>G (p.Gly1550=)
c.4620C>G (p.Gly1540=)
c.4491C>G (p.Gly1497=)
c.4470C>G (p.Gly1490=)
n.4765C>G
dbSNP
6g.157201043C>TCA452978394ARID1Bc.4659C>T (p.Gly1553=)
c.4728C>T (p.Gly1576=)
c.4947C>T (p.Gly1649=)
c.4698C>T (p.Gly1566=)
c.4410C>T (p.Gly1470=)
c.2976C>T (p.Gly992=)
c.2139C>T (p.Gly713=)
c.1770C>T (p.Gly590=)
n.3281C>T
n.738C>T
c.4818C>T (p.Gly1606=)
n.2815C>T
c.2186C>T
c.2100C>T
n.1484C>T
c.2160C>T (p.Gly720=)
c.2319C>T (p.Gly773=)
c.4449C>T (p.Gly1483=)
c.4569C>T (p.Gly1523=)
c.3648C>T (p.Gly1216=)
c.3468C>T (p.Gly1156=)
c.3228C>T (p.Gly1076=)
c.2847C>T (p.Gly949=)
c.1710C>T (p.Gly570=)
c.4779C>T (p.Gly1593=)
c.4680C>T (p.Gly1560=)
c.4650C>T (p.Gly1550=)
c.4620C>T (p.Gly1540=)
c.4491C>T (p.Gly1497=)
c.4470C>T (p.Gly1490=)
n.4765C>T
dbSNP
6g.157201044C>ACA366241676ARID1Bc.4660C>A (p.Pro1554Thr)
c.4729C>A (p.Pro1577Thr)
c.4948C>A (p.Pro1650Thr)
c.4699C>A (p.Pro1567Thr)
c.4411C>A (p.Pro1471Thr)
c.2977C>A (p.Pro993Thr)
c.2140C>A (p.Pro714Thr)
c.1771C>A (p.Pro591Thr)
n.3282C>A
n.739C>A
c.4819C>A (p.Pro1607Thr)
n.2816C>A
c.2187C>A
c.2101C>A
n.1485C>A
c.2161C>A (p.Pro721Thr)
c.2320C>A (p.Pro774Thr)
c.4450C>A (p.Pro1484Thr)
c.4570C>A (p.Pro1524Thr)
c.3649C>A (p.Pro1217Thr)
c.3469C>A (p.Pro1157Thr)
c.3229C>A (p.Pro1077Thr)
c.2848C>A (p.Pro950Thr)
c.1711C>A (p.Pro571Thr)
c.4780C>A (p.Pro1594Thr)
c.4681C>A (p.Pro1561Thr)
c.4651C>A (p.Pro1551Thr)
c.4621C>A (p.Pro1541Thr)
c.4492C>A (p.Pro1498Thr)
c.4471C>A (p.Pro1491Thr)
n.4766C>A
dbSNP
6g.157201044C>GCA366241678ARID1Bc.4660C>G (p.Pro1554Ala)
c.4729C>G (p.Pro1577Ala)
c.4948C>G (p.Pro1650Ala)
c.4699C>G (p.Pro1567Ala)
c.4411C>G (p.Pro1471Ala)
c.2977C>G (p.Pro993Ala)
c.2140C>G (p.Pro714Ala)
c.1771C>G (p.Pro591Ala)
n.3282C>G
n.739C>G
c.4819C>G (p.Pro1607Ala)
n.2816C>G
c.2187C>G
c.2101C>G
n.1485C>G
c.2161C>G (p.Pro721Ala)
c.2320C>G (p.Pro774Ala)
c.4450C>G (p.Pro1484Ala)
c.4570C>G (p.Pro1524Ala)
c.3649C>G (p.Pro1217Ala)
c.3469C>G (p.Pro1157Ala)
c.3229C>G (p.Pro1077Ala)
c.2848C>G (p.Pro950Ala)
c.1711C>G (p.Pro571Ala)
c.4780C>G (p.Pro1594Ala)
c.4681C>G (p.Pro1561Ala)
c.4651C>G (p.Pro1551Ala)
c.4621C>G (p.Pro1541Ala)
c.4492C>G (p.Pro1498Ala)
c.4471C>G (p.Pro1491Ala)
n.4766C>G
6g.157201044C>TCA366241680ARID1Bc.4660C>T (p.Pro1554Ser)
c.4729C>T (p.Pro1577Ser)
c.4948C>T (p.Pro1650Ser)
c.4699C>T (p.Pro1567Ser)
c.4411C>T (p.Pro1471Ser)
c.2977C>T (p.Pro993Ser)
c.2140C>T (p.Pro714Ser)
c.1771C>T (p.Pro591Ser)
n.3282C>T
n.739C>T
c.4819C>T (p.Pro1607Ser)
n.2816C>T
c.2187C>T
c.2101C>T
n.1485C>T
c.2161C>T (p.Pro721Ser)
c.2320C>T (p.Pro774Ser)
c.4450C>T (p.Pro1484Ser)
c.4570C>T (p.Pro1524Ser)
c.3649C>T (p.Pro1217Ser)
c.3469C>T (p.Pro1157Ser)
c.3229C>T (p.Pro1077Ser)
c.2848C>T (p.Pro950Ser)
c.1711C>T (p.Pro571Ser)
c.4780C>T (p.Pro1594Ser)
c.4681C>T (p.Pro1561Ser)
c.4651C>T (p.Pro1551Ser)
c.4621C>T (p.Pro1541Ser)
c.4492C>T (p.Pro1498Ser)
c.4471C>T (p.Pro1491Ser)
n.4766C>T
6g.157201045C>ACA366241683ARID1Bc.4661C>A (p.Pro1554His)
c.4730C>A (p.Pro1577His)
c.4949C>A (p.Pro1650His)
c.4700C>A (p.Pro1567His)
c.4412C>A (p.Pro1471His)
c.2978C>A (p.Pro993His)
c.2141C>A (p.Pro714His)
c.1772C>A (p.Pro591His)
n.3283C>A
n.740C>A
c.4820C>A (p.Pro1607His)
n.2817C>A
c.2188C>A
c.2102C>A
n.1486C>A
c.2162C>A (p.Pro721His)
c.2321C>A (p.Pro774His)
c.4451C>A (p.Pro1484His)
c.4571C>A (p.Pro1524His)
c.3650C>A (p.Pro1217His)
c.3470C>A (p.Pro1157His)
c.3230C>A (p.Pro1077His)
c.2849C>A (p.Pro950His)
c.1712C>A (p.Pro571His)
c.4781C>A (p.Pro1594His)
c.4682C>A (p.Pro1561His)
c.4652C>A (p.Pro1551His)
c.4622C>A (p.Pro1541His)
c.4493C>A (p.Pro1498His)
c.4472C>A (p.Pro1491His)
n.4767C>A
6g.157201045C>GCA366241685ARID1Bc.4661C>G (p.Pro1554Arg)
c.4730C>G (p.Pro1577Arg)
c.4949C>G (p.Pro1650Arg)
c.4700C>G (p.Pro1567Arg)
c.4412C>G (p.Pro1471Arg)
c.2978C>G (p.Pro993Arg)
c.2141C>G (p.Pro714Arg)
c.1772C>G (p.Pro591Arg)
n.3283C>G
n.740C>G
c.4820C>G (p.Pro1607Arg)
n.2817C>G
c.2188C>G
c.2102C>G
n.1486C>G
c.2162C>G (p.Pro721Arg)
c.2321C>G (p.Pro774Arg)
c.4451C>G (p.Pro1484Arg)
c.4571C>G (p.Pro1524Arg)
c.3650C>G (p.Pro1217Arg)
c.3470C>G (p.Pro1157Arg)
c.3230C>G (p.Pro1077Arg)
c.2849C>G (p.Pro950Arg)
c.1712C>G (p.Pro571Arg)
c.4781C>G (p.Pro1594Arg)
c.4682C>G (p.Pro1561Arg)
c.4652C>G (p.Pro1551Arg)
c.4622C>G (p.Pro1541Arg)
c.4493C>G (p.Pro1498Arg)
c.4472C>G (p.Pro1491Arg)
n.4767C>G
6g.157201045C>TCA366241688ARID1Bc.4661C>T (p.Pro1554Leu)
c.4730C>T (p.Pro1577Leu)
c.4949C>T (p.Pro1650Leu)
c.4700C>T (p.Pro1567Leu)
c.4412C>T (p.Pro1471Leu)
c.2978C>T (p.Pro993Leu)
c.2141C>T (p.Pro714Leu)
c.1772C>T (p.Pro591Leu)
n.3283C>T
n.740C>T
c.4820C>T (p.Pro1607Leu)
n.2817C>T
c.2188C>T
c.2102C>T
n.1486C>T
c.2162C>T (p.Pro721Leu)
c.2321C>T (p.Pro774Leu)
c.4451C>T (p.Pro1484Leu)
c.4571C>T (p.Pro1524Leu)
c.3650C>T (p.Pro1217Leu)
c.3470C>T (p.Pro1157Leu)
c.3230C>T (p.Pro1077Leu)
c.2849C>T (p.Pro950Leu)
c.1712C>T (p.Pro571Leu)
c.4781C>T (p.Pro1594Leu)
c.4682C>T (p.Pro1561Leu)
c.4652C>T (p.Pro1551Leu)
c.4622C>T (p.Pro1541Leu)
c.4493C>T (p.Pro1498Leu)
c.4472C>T (p.Pro1491Leu)
n.4767C>T
6g.157201046T>ACA452978395ARID1Bc.4662T>A (p.Pro1554=)
c.4731T>A (p.Pro1577=)
c.4950T>A (p.Pro1650=)
c.4701T>A (p.Pro1567=)
c.4413T>A (p.Pro1471=)
c.2979T>A (p.Pro993=)
c.2142T>A (p.Pro714=)
c.1773T>A (p.Pro591=)
n.3284T>A
n.741T>A
c.4821T>A (p.Pro1607=)
n.2818T>A
c.2189T>A
c.2103T>A
n.1487T>A
c.2163T>A (p.Pro721=)
c.2322T>A (p.Pro774=)
c.4452T>A (p.Pro1484=)
c.4572T>A (p.Pro1524=)
c.3651T>A (p.Pro1217=)
c.3471T>A (p.Pro1157=)
c.3231T>A (p.Pro1077=)
c.2850T>A (p.Pro950=)
c.1713T>A (p.Pro571=)
c.4782T>A (p.Pro1594=)
c.4683T>A (p.Pro1561=)
c.4653T>A (p.Pro1551=)
c.4623T>A (p.Pro1541=)
c.4494T>A (p.Pro1498=)
c.4473T>A (p.Pro1491=)
n.4768T>A
6g.157201046T>CCA452978396ARID1Bc.4662T>C (p.Pro1554=)
c.4731T>C (p.Pro1577=)
c.4950T>C (p.Pro1650=)
c.4701T>C (p.Pro1567=)
c.4413T>C (p.Pro1471=)
c.2979T>C (p.Pro993=)
c.2142T>C (p.Pro714=)
c.1773T>C (p.Pro591=)
n.3284T>C
n.741T>C
c.4821T>C (p.Pro1607=)
n.2818T>C
c.2189T>C
c.2103T>C
n.1487T>C
c.2163T>C (p.Pro721=)
c.2322T>C (p.Pro774=)
c.4452T>C (p.Pro1484=)
c.4572T>C (p.Pro1524=)
c.3651T>C (p.Pro1217=)
c.3471T>C (p.Pro1157=)
c.3231T>C (p.Pro1077=)
c.2850T>C (p.Pro950=)
c.1713T>C (p.Pro571=)
c.4782T>C (p.Pro1594=)
c.4683T>C (p.Pro1561=)
c.4653T>C (p.Pro1551=)
c.4623T>C (p.Pro1541=)
c.4494T>C (p.Pro1498=)
c.4473T>C (p.Pro1491=)
n.4768T>C
dbSNP gnomAD v3 gnomAD v4
6g.157201046T>GCA452978397ARID1Bc.4662T>G (p.Pro1554=)
c.4731T>G (p.Pro1577=)
c.4950T>G (p.Pro1650=)
c.4701T>G (p.Pro1567=)
c.4413T>G (p.Pro1471=)
c.2979T>G (p.Pro993=)
c.2142T>G (p.Pro714=)
c.1773T>G (p.Pro591=)
n.3284T>G
n.741T>G
c.4821T>G (p.Pro1607=)
n.2818T>G
c.2189T>G
c.2103T>G
n.1487T>G
c.2163T>G (p.Pro721=)
c.2322T>G (p.Pro774=)
c.4452T>G (p.Pro1484=)
c.4572T>G (p.Pro1524=)
c.3651T>G (p.Pro1217=)
c.3471T>G (p.Pro1157=)
c.3231T>G (p.Pro1077=)
c.2850T>G (p.Pro950=)
c.1713T>G (p.Pro571=)
c.4782T>G (p.Pro1594=)
c.4683T>G (p.Pro1561=)
c.4653T>G (p.Pro1551=)
c.4623T>G (p.Pro1541=)
c.4494T>G (p.Pro1498=)
c.4473T>G (p.Pro1491=)
n.4768T>G
6g.157201046T=CA1675522862ARID1Bc.4662T= (p.Pro1554=)
c.4731T= (p.Pro1577=)
c.4950T= (p.Pro1650=)
c.4701T= (p.Pro1567=)
c.4413T= (p.Pro1471=)
c.2979T= (p.Pro993=)
c.2142T= (p.Pro714=)
c.1773T= (p.Pro591=)
n.3284T=
n.741T=
c.4821T= (p.Pro1607=)
n.2818T=
c.2189T=
c.2103T=
n.1487T=
c.2163T= (p.Pro721=)
c.2322T= (p.Pro774=)
c.4452T= (p.Pro1484=)
c.4572T= (p.Pro1524=)
c.3651T= (p.Pro1217=)
c.3471T= (p.Pro1157=)
c.3231T= (p.Pro1077=)
c.2850T= (p.Pro950=)
c.1713T= (p.Pro571=)
c.4782T= (p.Pro1594=)
c.4683T= (p.Pro1561=)
c.4653T= (p.Pro1551=)
c.4623T= (p.Pro1541=)
c.4494T= (p.Pro1498=)
c.4473T= (p.Pro1491=)
n.4768T=
6g.157201047A>CCA366241692ARID1Bc.4663A>C (p.Thr1555Pro)
c.4732A>C (p.Thr1578Pro)
c.4951A>C (p.Thr1651Pro)
c.4702A>C (p.Thr1568Pro)
c.4414A>C (p.Thr1472Pro)
c.2980A>C (p.Thr994Pro)
c.2143A>C (p.Thr715Pro)
c.1774A>C (p.Thr592Pro)
n.3285A>C
n.742A>C
c.4822A>C (p.Thr1608Pro)
n.2819A>C
c.2190A>C
c.2104A>C
n.1488A>C
c.2164A>C (p.Thr722Pro)
c.2323A>C (p.Thr775Pro)
c.4453A>C (p.Thr1485Pro)
c.4573A>C (p.Thr1525Pro)
c.3652A>C (p.Thr1218Pro)
c.3472A>C (p.Thr1158Pro)
c.3232A>C (p.Thr1078Pro)
c.2851A>C (p.Thr951Pro)
c.1714A>C (p.Thr572Pro)
c.4783A>C (p.Thr1595Pro)
c.4684A>C (p.Thr1562Pro)
c.4654A>C (p.Thr1552Pro)
c.4624A>C (p.Thr1542Pro)
c.4495A>C (p.Thr1499Pro)
c.4474A>C (p.Thr1492Pro)
n.4769A>C
6g.157201047A>GCA366241693ARID1Bc.4663A>G (p.Thr1555Ala)
c.4732A>G (p.Thr1578Ala)
c.4951A>G (p.Thr1651Ala)
c.4702A>G (p.Thr1568Ala)
c.4414A>G (p.Thr1472Ala)
c.2980A>G (p.Thr994Ala)
c.2143A>G (p.Thr715Ala)
c.1774A>G (p.Thr592Ala)
n.3285A>G
n.742A>G
c.4822A>G (p.Thr1608Ala)
n.2819A>G
c.2190A>G
c.2104A>G
n.1488A>G
c.2164A>G (p.Thr722Ala)
c.2323A>G (p.Thr775Ala)
c.4453A>G (p.Thr1485Ala)
c.4573A>G (p.Thr1525Ala)
c.3652A>G (p.Thr1218Ala)
c.3472A>G (p.Thr1158Ala)
c.3232A>G (p.Thr1078Ala)
c.2851A>G (p.Thr951Ala)
c.1714A>G (p.Thr572Ala)
c.4783A>G (p.Thr1595Ala)
c.4684A>G (p.Thr1562Ala)
c.4654A>G (p.Thr1552Ala)
c.4624A>G (p.Thr1542Ala)
c.4495A>G (p.Thr1499Ala)
c.4474A>G (p.Thr1492Ala)
n.4769A>G
gnomAD v4
6g.157201047A>TCA366241695ARID1Bc.4663A>T (p.Thr1555Ser)
c.4732A>T (p.Thr1578Ser)
c.4951A>T (p.Thr1651Ser)
c.4702A>T (p.Thr1568Ser)
c.4414A>T (p.Thr1472Ser)
c.2980A>T (p.Thr994Ser)
c.2143A>T (p.Thr715Ser)
c.1774A>T (p.Thr592Ser)
n.3285A>T
n.742A>T
c.4822A>T (p.Thr1608Ser)
n.2819A>T
c.2190A>T
c.2104A>T
n.1488A>T
c.2164A>T (p.Thr722Ser)
c.2323A>T (p.Thr775Ser)
c.4453A>T (p.Thr1485Ser)
c.4573A>T (p.Thr1525Ser)
c.3652A>T (p.Thr1218Ser)
c.3472A>T (p.Thr1158Ser)
c.3232A>T (p.Thr1078Ser)
c.2851A>T (p.Thr951Ser)
c.1714A>T (p.Thr572Ser)
c.4783A>T (p.Thr1595Ser)
c.4684A>T (p.Thr1562Ser)
c.4654A>T (p.Thr1552Ser)
c.4624A>T (p.Thr1542Ser)
c.4495A>T (p.Thr1499Ser)
c.4474A>T (p.Thr1492Ser)
n.4769A>T
6g.157201048C>ACA366241698ARID1Bc.4664C>A (p.Thr1555Lys)
c.4733C>A (p.Thr1578Lys)
c.4952C>A (p.Thr1651Lys)
c.4703C>A (p.Thr1568Lys)
c.4415C>A (p.Thr1472Lys)
c.2981C>A (p.Thr994Lys)
c.2144C>A (p.Thr715Lys)
c.1775C>A (p.Thr592Lys)
n.3286C>A
n.743C>A
c.4823C>A (p.Thr1608Lys)
n.2820C>A
c.2191C>A
c.2105C>A
n.1489C>A
c.2165C>A (p.Thr722Lys)
c.2324C>A (p.Thr775Lys)
c.4454C>A (p.Thr1485Lys)
c.4574C>A (p.Thr1525Lys)
c.3653C>A (p.Thr1218Lys)
c.3473C>A (p.Thr1158Lys)
c.3233C>A (p.Thr1078Lys)
c.2852C>A (p.Thr951Lys)
c.1715C>A (p.Thr572Lys)
c.4784C>A (p.Thr1595Lys)
c.4685C>A (p.Thr1562Lys)
c.4655C>A (p.Thr1552Lys)
c.4625C>A (p.Thr1542Lys)
c.4496C>A (p.Thr1499Lys)
c.4475C>A (p.Thr1492Lys)
n.4770C>A
6g.157201048C>GCA366241701ARID1Bc.4664C>G (p.Thr1555Arg)
c.4733C>G (p.Thr1578Arg)
c.4952C>G (p.Thr1651Arg)
c.4703C>G (p.Thr1568Arg)
c.4415C>G (p.Thr1472Arg)
c.2981C>G (p.Thr994Arg)
c.2144C>G (p.Thr715Arg)
c.1775C>G (p.Thr592Arg)
n.3286C>G
n.743C>G
c.4823C>G (p.Thr1608Arg)
n.2820C>G
c.2191C>G
c.2105C>G
n.1489C>G
c.2165C>G (p.Thr722Arg)
c.2324C>G (p.Thr775Arg)
c.4454C>G (p.Thr1485Arg)
c.4574C>G (p.Thr1525Arg)
c.3653C>G (p.Thr1218Arg)
c.3473C>G (p.Thr1158Arg)
c.3233C>G (p.Thr1078Arg)
c.2852C>G (p.Thr951Arg)
c.1715C>G (p.Thr572Arg)
c.4784C>G (p.Thr1595Arg)
c.4685C>G (p.Thr1562Arg)
c.4655C>G (p.Thr1552Arg)
c.4625C>G (p.Thr1542Arg)
c.4496C>G (p.Thr1499Arg)
c.4475C>G (p.Thr1492Arg)
n.4770C>G
6g.157201048C>TCA366241700ARID1Bc.4664C>T (p.Thr1555Ile)
c.4733C>T (p.Thr1578Ile)
c.4952C>T (p.Thr1651Ile)
c.4703C>T (p.Thr1568Ile)
c.4415C>T (p.Thr1472Ile)
c.2981C>T (p.Thr994Ile)
c.2144C>T (p.Thr715Ile)
c.1775C>T (p.Thr592Ile)
n.3286C>T
n.743C>T
c.4823C>T (p.Thr1608Ile)
n.2820C>T
c.2191C>T
c.2105C>T
n.1489C>T
c.2165C>T (p.Thr722Ile)
c.2324C>T (p.Thr775Ile)
c.4454C>T (p.Thr1485Ile)
c.4574C>T (p.Thr1525Ile)
c.3653C>T (p.Thr1218Ile)
c.3473C>T (p.Thr1158Ile)
c.3233C>T (p.Thr1078Ile)
c.2852C>T (p.Thr951Ile)
c.1715C>T (p.Thr572Ile)
c.4784C>T (p.Thr1595Ile)
c.4685C>T (p.Thr1562Ile)
c.4655C>T (p.Thr1552Ile)
c.4625C>T (p.Thr1542Ile)
c.4496C>T (p.Thr1499Ile)
c.4475C>T (p.Thr1492Ile)
n.4770C>T
dbSNP
6g.157201049A>CCA452978398ARID1Bc.4665A>C (p.Thr1555=)
c.4734A>C (p.Thr1578=)
c.4953A>C (p.Thr1651=)
c.4704A>C (p.Thr1568=)
c.4416A>C (p.Thr1472=)
c.2982A>C (p.Thr994=)
c.2145A>C (p.Thr715=)
c.1776A>C (p.Thr592=)
n.3287A>C
n.744A>C
c.4824A>C (p.Thr1608=)
n.2821A>C
c.2192A>C
c.2106A>C
n.1490A>C
c.2166A>C (p.Thr722=)
c.2325A>C (p.Thr775=)
c.4455A>C (p.Thr1485=)
c.4575A>C (p.Thr1525=)
c.3654A>C (p.Thr1218=)
c.3474A>C (p.Thr1158=)
c.3234A>C (p.Thr1078=)
c.2853A>C (p.Thr951=)
c.1716A>C (p.Thr572=)
c.4785A>C (p.Thr1595=)
c.4686A>C (p.Thr1562=)
c.4656A>C (p.Thr1552=)
c.4626A>C (p.Thr1542=)
c.4497A>C (p.Thr1499=)
c.4476A>C (p.Thr1492=)
n.4771A>C
6g.157201049A>GCA452978399ARID1Bc.4665A>G (p.Thr1555=)
c.4734A>G (p.Thr1578=)
c.4953A>G (p.Thr1651=)
c.4704A>G (p.Thr1568=)
c.4416A>G (p.Thr1472=)
c.2982A>G (p.Thr994=)
c.2145A>G (p.Thr715=)
c.1776A>G (p.Thr592=)
n.3287A>G
n.744A>G
c.4824A>G (p.Thr1608=)
n.2821A>G
c.2192A>G
c.2106A>G
n.1490A>G
c.2166A>G (p.Thr722=)
c.2325A>G (p.Thr775=)
c.4455A>G (p.Thr1485=)
c.4575A>G (p.Thr1525=)
c.3654A>G (p.Thr1218=)
c.3474A>G (p.Thr1158=)
c.3234A>G (p.Thr1078=)
c.2853A>G (p.Thr951=)
c.1716A>G (p.Thr572=)
c.4785A>G (p.Thr1595=)
c.4686A>G (p.Thr1562=)
c.4656A>G (p.Thr1552=)
c.4626A>G (p.Thr1542=)
c.4497A>G (p.Thr1499=)
c.4476A>G (p.Thr1492=)
n.4771A>G
6g.157201049A>TCA452978400ARID1Bc.4665A>T (p.Thr1555=)
c.4734A>T (p.Thr1578=)
c.4953A>T (p.Thr1651=)
c.4704A>T (p.Thr1568=)
c.4416A>T (p.Thr1472=)
c.2982A>T (p.Thr994=)
c.2145A>T (p.Thr715=)
c.1776A>T (p.Thr592=)
n.3287A>T
n.744A>T
c.4824A>T (p.Thr1608=)
n.2821A>T
c.2192A>T
c.2106A>T
n.1490A>T
c.2166A>T (p.Thr722=)
c.2325A>T (p.Thr775=)
c.4455A>T (p.Thr1485=)
c.4575A>T (p.Thr1525=)
c.3654A>T (p.Thr1218=)
c.3474A>T (p.Thr1158=)
c.3234A>T (p.Thr1078=)
c.2853A>T (p.Thr951=)
c.1716A>T (p.Thr572=)
c.4785A>T (p.Thr1595=)
c.4686A>T (p.Thr1562=)
c.4656A>T (p.Thr1552=)
c.4626A>T (p.Thr1542=)
c.4497A>T (p.Thr1499=)
c.4476A>T (p.Thr1492=)
n.4771A>T
6g.157201050C>ACA366241704ARID1Bc.4666C>A (p.Gln1556Lys)
c.4735C>A (p.Gln1579Lys)
c.4954C>A (p.Gln1652Lys)
c.4705C>A (p.Gln1569Lys)
c.4417C>A (p.Gln1473Lys)
c.2983C>A (p.Gln995Lys)
c.2146C>A (p.Gln716Lys)
c.1777C>A (p.Gln593Lys)
n.3288C>A
n.745C>A
c.4825C>A (p.Gln1609Lys)
n.2822C>A
c.2193C>A
c.2107C>A
n.1491C>A
c.2167C>A (p.Gln723Lys)
c.2326C>A (p.Gln776Lys)
c.4456C>A (p.Gln1486Lys)
c.4576C>A (p.Gln1526Lys)
c.3655C>A (p.Gln1219Lys)
c.3475C>A (p.Gln1159Lys)
c.3235C>A (p.Gln1079Lys)
c.2854C>A (p.Gln952Lys)
c.1717C>A (p.Gln573Lys)
c.4786C>A (p.Gln1596Lys)
c.4687C>A (p.Gln1563Lys)
c.4657C>A (p.Gln1553Lys)
c.4627C>A (p.Gln1543Lys)
c.4498C>A (p.Gln1500Lys)
c.4477C>A (p.Gln1493Lys)
n.4772C>A
6g.157201050C=CA1675522870ARID1Bc.4666C= (p.Gln1556=)
c.4735C= (p.Gln1579=)
c.4954C= (p.Gln1652=)
c.4705C= (p.Gln1569=)
c.4417C= (p.Gln1473=)
c.2983C= (p.Gln995=)
c.2146C= (p.Gln716=)
c.1777C= (p.Gln593=)
n.3288C=
n.745C=
c.4825C= (p.Gln1609=)
n.2822C=
c.2193C=
c.2107C=
n.1491C=
c.2167C= (p.Gln723=)
c.2326C= (p.Gln776=)
c.4456C= (p.Gln1486=)
c.4576C= (p.Gln1526=)
c.3655C= (p.Gln1219=)
c.3475C= (p.Gln1159=)
c.3235C= (p.Gln1079=)
c.2854C= (p.Gln952=)
c.1717C= (p.Gln573=)
c.4786C= (p.Gln1596=)
c.4687C= (p.Gln1563=)
c.4657C= (p.Gln1553=)
c.4627C= (p.Gln1543=)
c.4498C= (p.Gln1500=)
c.4477C= (p.Gln1493=)
n.4772C=
6g.157201050C>GCA366241707ARID1Bc.4666C>G (p.Gln1556Glu)
c.4735C>G (p.Gln1579Glu)
c.4954C>G (p.Gln1652Glu)
c.4705C>G (p.Gln1569Glu)
c.4417C>G (p.Gln1473Glu)
c.2983C>G (p.Gln995Glu)
c.2146C>G (p.Gln716Glu)
c.1777C>G (p.Gln593Glu)
n.3288C>G
n.745C>G
c.4825C>G (p.Gln1609Glu)
n.2822C>G
c.2193C>G
c.2107C>G
n.1491C>G
c.2167C>G (p.Gln723Glu)
c.2326C>G (p.Gln776Glu)
c.4456C>G (p.Gln1486Glu)
c.4576C>G (p.Gln1526Glu)
c.3655C>G (p.Gln1219Glu)
c.3475C>G (p.Gln1159Glu)
c.3235C>G (p.Gln1079Glu)
c.2854C>G (p.Gln952Glu)
c.1717C>G (p.Gln573Glu)
c.4786C>G (p.Gln1596Glu)
c.4687C>G (p.Gln1563Glu)
c.4657C>G (p.Gln1553Glu)
c.4627C>G (p.Gln1543Glu)
c.4498C>G (p.Gln1500Glu)
c.4477C>G (p.Gln1493Glu)
n.4772C>G
6g.157201050C>TCA16618266ARID1Bc.4666C>T (p.Gln1556Ter)
c.4735C>T (p.Gln1579Ter)
c.4954C>T (p.Gln1652Ter)
c.4705C>T (p.Gln1569Ter)
c.4417C>T (p.Gln1473Ter)
c.2983C>T (p.Gln995Ter)
c.2146C>T (p.Gln716Ter)
c.1777C>T (p.Gln593Ter)
n.3288C>T
n.745C>T
c.4825C>T (p.Gln1609Ter)
n.2822C>T
c.2193C>T
c.2107C>T
n.1491C>T
c.2167C>T (p.Gln723Ter)
c.2326C>T (p.Gln776Ter)
c.4456C>T (p.Gln1486Ter)
c.4576C>T (p.Gln1526Ter)
c.3655C>T (p.Gln1219Ter)
c.3475C>T (p.Gln1159Ter)
c.3235C>T (p.Gln1079Ter)
c.2854C>T (p.Gln952Ter)
c.1717C>T (p.Gln573Ter)
c.4786C>T (p.Gln1596Ter)
c.4687C>T (p.Gln1563Ter)
c.4657C>T (p.Gln1553Ter)
c.4627C>T (p.Gln1543Ter)
c.4498C>T (p.Gln1500Ter)
c.4477C>T (p.Gln1493Ter)
n.4772C>T
ClinVar dbSNP
6g.157201051A>CCA366241710ARID1Bc.4667A>C (p.Gln1556Pro)
c.4736A>C (p.Gln1579Pro)
c.4955A>C (p.Gln1652Pro)
c.4706A>C (p.Gln1569Pro)
c.4418A>C (p.Gln1473Pro)
c.2984A>C (p.Gln995Pro)
c.2147A>C (p.Gln716Pro)
c.1778A>C (p.Gln593Pro)
n.3289A>C
n.746A>C
c.4826A>C (p.Gln1609Pro)
n.2823A>C
c.2194A>C
c.2108A>C
n.1492A>C
c.2168A>C (p.Gln723Pro)
c.2327A>C (p.Gln776Pro)
c.4457A>C (p.Gln1486Pro)
c.4577A>C (p.Gln1526Pro)
c.3656A>C (p.Gln1219Pro)
c.3476A>C (p.Gln1159Pro)
c.3236A>C (p.Gln1079Pro)
c.2855A>C (p.Gln952Pro)
c.1718A>C (p.Gln573Pro)
c.4787A>C (p.Gln1596Pro)
c.4688A>C (p.Gln1563Pro)
c.4658A>C (p.Gln1553Pro)
c.4628A>C (p.Gln1543Pro)
c.4499A>C (p.Gln1500Pro)
c.4478A>C (p.Gln1493Pro)
n.4773A>C
6g.157201051A>GCA366241712ARID1Bc.4667A>G (p.Gln1556Arg)
c.4736A>G (p.Gln1579Arg)
c.4955A>G (p.Gln1652Arg)
c.4706A>G (p.Gln1569Arg)
c.4418A>G (p.Gln1473Arg)
c.2984A>G (p.Gln995Arg)
c.2147A>G (p.Gln716Arg)
c.1778A>G (p.Gln593Arg)
n.3289A>G
n.746A>G
c.4826A>G (p.Gln1609Arg)
n.2823A>G
c.2194A>G
c.2108A>G
n.1492A>G
c.2168A>G (p.Gln723Arg)
c.2327A>G (p.Gln776Arg)
c.4457A>G (p.Gln1486Arg)
c.4577A>G (p.Gln1526Arg)
c.3656A>G (p.Gln1219Arg)
c.3476A>G (p.Gln1159Arg)
c.3236A>G (p.Gln1079Arg)
c.2855A>G (p.Gln952Arg)
c.1718A>G (p.Gln573Arg)
c.4787A>G (p.Gln1596Arg)
c.4688A>G (p.Gln1563Arg)
c.4658A>G (p.Gln1553Arg)
c.4628A>G (p.Gln1543Arg)
c.4499A>G (p.Gln1500Arg)
c.4478A>G (p.Gln1493Arg)
n.4773A>G
6g.157201051A>TCA366241714ARID1Bc.4667A>T (p.Gln1556Leu)
c.4736A>T (p.Gln1579Leu)
c.4955A>T (p.Gln1652Leu)
c.4706A>T (p.Gln1569Leu)
c.4418A>T (p.Gln1473Leu)
c.2984A>T (p.Gln995Leu)
c.2147A>T (p.Gln716Leu)
c.1778A>T (p.Gln593Leu)
n.3289A>T
n.746A>T
c.4826A>T (p.Gln1609Leu)
n.2823A>T
c.2194A>T
c.2108A>T
n.1492A>T
c.2168A>T (p.Gln723Leu)
c.2327A>T (p.Gln776Leu)
c.4457A>T (p.Gln1486Leu)
c.4577A>T (p.Gln1526Leu)
c.3656A>T (p.Gln1219Leu)
c.3476A>T (p.Gln1159Leu)
c.3236A>T (p.Gln1079Leu)
c.2855A>T (p.Gln952Leu)
c.1718A>T (p.Gln573Leu)
c.4787A>T (p.Gln1596Leu)
c.4688A>T (p.Gln1563Leu)
c.4658A>T (p.Gln1553Leu)
c.4628A>T (p.Gln1543Leu)
c.4499A>T (p.Gln1500Leu)
c.4478A>T (p.Gln1493Leu)
n.4773A>T
dbSNP
6g.157201052G>ACA452978402ARID1Bc.4668G>A (p.Gln1556=)
c.4737G>A (p.Gln1579=)
c.4956G>A (p.Gln1652=)
c.4707G>A (p.Gln1569=)
c.4419G>A (p.Gln1473=)
c.2985G>A (p.Gln995=)
c.2148G>A (p.Gln716=)
c.1779G>A (p.Gln593=)
n.3290G>A
n.747G>A
c.4827G>A (p.Gln1609=)
n.2824G>A
c.2195G>A
c.2109G>A
n.1493G>A
c.2169G>A (p.Gln723=)
c.2328G>A (p.Gln776=)
c.4458G>A (p.Gln1486=)
c.4578G>A (p.Gln1526=)
c.3657G>A (p.Gln1219=)
c.3477G>A (p.Gln1159=)
c.3237G>A (p.Gln1079=)
c.2856G>A (p.Gln952=)
c.1719G>A (p.Gln573=)
c.4788G>A (p.Gln1596=)
c.4689G>A (p.Gln1563=)
c.4659G>A (p.Gln1553=)
c.4629G>A (p.Gln1543=)
c.4500G>A (p.Gln1500=)
c.4479G>A (p.Gln1493=)
n.4774G>A
dbSNP gnomAD v4
6g.157201052G>CCA366241717ARID1Bc.4668G>C (p.Gln1556His)
c.4737G>C (p.Gln1579His)
c.4956G>C (p.Gln1652His)
c.4707G>C (p.Gln1569His)
c.4419G>C (p.Gln1473His)
c.2985G>C (p.Gln995His)
c.2148G>C (p.Gln716His)
c.1779G>C (p.Gln593His)
n.3290G>C
n.747G>C
c.4827G>C (p.Gln1609His)
n.2824G>C
c.2195G>C
c.2109G>C
n.1493G>C
c.2169G>C (p.Gln723His)
c.2328G>C (p.Gln776His)
c.4458G>C (p.Gln1486His)
c.4578G>C (p.Gln1526His)
c.3657G>C (p.Gln1219His)
c.3477G>C (p.Gln1159His)
c.3237G>C (p.Gln1079His)
c.2856G>C (p.Gln952His)
c.1719G>C (p.Gln573His)
c.4788G>C (p.Gln1596His)
c.4689G>C (p.Gln1563His)
c.4659G>C (p.Gln1553His)
c.4629G>C (p.Gln1543His)
c.4500G>C (p.Gln1500His)
c.4479G>C (p.Gln1493His)
n.4774G>C
dbSNP
6g.157201052G>TCA366241720ARID1Bc.4668G>T (p.Gln1556His)
c.4737G>T (p.Gln1579His)
c.4956G>T (p.Gln1652His)
c.4707G>T (p.Gln1569His)
c.4419G>T (p.Gln1473His)
c.2985G>T (p.Gln995His)
c.2148G>T (p.Gln716His)
c.1779G>T (p.Gln593His)
n.3290G>T
n.747G>T
c.4827G>T (p.Gln1609His)
n.2824G>T
c.2195G>T
c.2109G>T
n.1493G>T
c.2169G>T (p.Gln723His)
c.2328G>T (p.Gln776His)
c.4458G>T (p.Gln1486His)
c.4578G>T (p.Gln1526His)
c.3657G>T (p.Gln1219His)
c.3477G>T (p.Gln1159His)
c.3237G>T (p.Gln1079His)
c.2856G>T (p.Gln952His)
c.1719G>T (p.Gln573His)
c.4788G>T (p.Gln1596His)
c.4689G>T (p.Gln1563His)
c.4659G>T (p.Gln1553His)
c.4629G>T (p.Gln1543His)
c.4500G>T (p.Gln1500His)
c.4479G>T (p.Gln1493His)
n.4774G>T
dbSNP
6g.157201053G>ACA366241722ARID1Bc.4669G>A (p.Ala1557Thr)
c.4738G>A (p.Ala1580Thr)
c.4957G>A (p.Ala1653Thr)
c.4708G>A (p.Ala1570Thr)
c.4420G>A (p.Ala1474Thr)
c.2986G>A (p.Ala996Thr)
c.2149G>A (p.Ala717Thr)
c.1780G>A (p.Ala594Thr)
n.3291G>A
n.748G>A
c.4828G>A (p.Ala1610Thr)
n.2825G>A
c.2196G>A
c.2110G>A
n.1494G>A
c.2170G>A (p.Ala724Thr)
c.2329G>A (p.Ala777Thr)
c.4459G>A (p.Ala1487Thr)
c.4579G>A (p.Ala1527Thr)
c.3658G>A (p.Ala1220Thr)
c.3478G>A (p.Ala1160Thr)
c.3238G>A (p.Ala1080Thr)
c.2857G>A (p.Ala953Thr)
c.1720G>A (p.Ala574Thr)
c.4789G>A (p.Ala1597Thr)
c.4690G>A (p.Ala1564Thr)
c.4660G>A (p.Ala1554Thr)
c.4630G>A (p.Ala1544Thr)
c.4501G>A (p.Ala1501Thr)
c.4480G>A (p.Ala1494Thr)
n.4775G>A
6g.157201053G>CCA366241724ARID1Bc.4669G>C (p.Ala1557Pro)
c.4738G>C (p.Ala1580Pro)
c.4957G>C (p.Ala1653Pro)
c.4708G>C (p.Ala1570Pro)
c.4420G>C (p.Ala1474Pro)
c.2986G>C (p.Ala996Pro)
c.2149G>C (p.Ala717Pro)
c.1780G>C (p.Ala594Pro)
n.3291G>C
n.748G>C
c.4828G>C (p.Ala1610Pro)
n.2825G>C
c.2196G>C
c.2110G>C
n.1494G>C
c.2170G>C (p.Ala724Pro)
c.2329G>C (p.Ala777Pro)
c.4459G>C (p.Ala1487Pro)
c.4579G>C (p.Ala1527Pro)
c.3658G>C (p.Ala1220Pro)
c.3478G>C (p.Ala1160Pro)
c.3238G>C (p.Ala1080Pro)
c.2857G>C (p.Ala953Pro)
c.1720G>C (p.Ala574Pro)
c.4789G>C (p.Ala1597Pro)
c.4690G>C (p.Ala1564Pro)
c.4660G>C (p.Ala1554Pro)
c.4630G>C (p.Ala1544Pro)
c.4501G>C (p.Ala1501Pro)
c.4480G>C (p.Ala1494Pro)
n.4775G>C
dbSNP
6g.157201053G>TCA366241726ARID1Bc.4669G>T (p.Ala1557Ser)
c.4738G>T (p.Ala1580Ser)
c.4957G>T (p.Ala1653Ser)
c.4708G>T (p.Ala1570Ser)
c.4420G>T (p.Ala1474Ser)
c.2986G>T (p.Ala996Ser)
c.2149G>T (p.Ala717Ser)
c.1780G>T (p.Ala594Ser)
n.3291G>T
n.748G>T
c.4828G>T (p.Ala1610Ser)
n.2825G>T
c.2196G>T
c.2110G>T
n.1494G>T
c.2170G>T (p.Ala724Ser)
c.2329G>T (p.Ala777Ser)
c.4459G>T (p.Ala1487Ser)
c.4579G>T (p.Ala1527Ser)
c.3658G>T (p.Ala1220Ser)
c.3478G>T (p.Ala1160Ser)
c.3238G>T (p.Ala1080Ser)
c.2857G>T (p.Ala953Ser)
c.1720G>T (p.Ala574Ser)
c.4789G>T (p.Ala1597Ser)
c.4690G>T (p.Ala1564Ser)
c.4660G>T (p.Ala1554Ser)
c.4630G>T (p.Ala1544Ser)
c.4501G>T (p.Ala1501Ser)
c.4480G>T (p.Ala1494Ser)
n.4775G>T
6g.157201054C>ACA366241729ARID1Bc.4670C>A (p.Ala1557Glu)
c.4739C>A (p.Ala1580Glu)
c.4958C>A (p.Ala1653Glu)
c.4709C>A (p.Ala1570Glu)
c.4421C>A (p.Ala1474Glu)
c.2987C>A (p.Ala996Glu)
c.2150C>A (p.Ala717Glu)
c.1781C>A (p.Ala594Glu)
n.3292C>A
n.749C>A
c.4829C>A (p.Ala1610Glu)
n.2826C>A
c.2197C>A
c.2111C>A
n.1495C>A
c.2171C>A (p.Ala724Glu)
c.2330C>A (p.Ala777Glu)
c.4460C>A (p.Ala1487Glu)
c.4580C>A (p.Ala1527Glu)
c.3659C>A (p.Ala1220Glu)
c.3479C>A (p.Ala1160Glu)
c.3239C>A (p.Ala1080Glu)
c.2858C>A (p.Ala953Glu)
c.1721C>A (p.Ala574Glu)
c.4790C>A (p.Ala1597Glu)
c.4691C>A (p.Ala1564Glu)
c.4661C>A (p.Ala1554Glu)
c.4631C>A (p.Ala1544Glu)
c.4502C>A (p.Ala1501Glu)
c.4481C>A (p.Ala1494Glu)
n.4776C>A
6g.157201054C=CA1675522880ARID1Bc.4670C= (p.Ala1557=)
c.4739C= (p.Ala1580=)
c.4958C= (p.Ala1653=)
c.4709C= (p.Ala1570=)
c.4421C= (p.Ala1474=)
c.2987C= (p.Ala996=)
c.2150C= (p.Ala717=)
c.1781C= (p.Ala594=)
n.3292C=
n.749C=
c.4829C= (p.Ala1610=)
n.2826C=
c.2197C=
c.2111C=
n.1495C=
c.2171C= (p.Ala724=)
c.2330C= (p.Ala777=)
c.4460C= (p.Ala1487=)
c.4580C= (p.Ala1527=)
c.3659C= (p.Ala1220=)
c.3479C= (p.Ala1160=)
c.3239C= (p.Ala1080=)
c.2858C= (p.Ala953=)
c.1721C= (p.Ala574=)
c.4790C= (p.Ala1597=)
c.4691C= (p.Ala1564=)
c.4661C= (p.Ala1554=)
c.4631C= (p.Ala1544=)
c.4502C= (p.Ala1501=)
c.4481C= (p.Ala1494=)
n.4776C=
6g.157201054C>GCA366241731ARID1Bc.4670C>G (p.Ala1557Gly)
c.4739C>G (p.Ala1580Gly)
c.4958C>G (p.Ala1653Gly)
c.4709C>G (p.Ala1570Gly)
c.4421C>G (p.Ala1474Gly)
c.2987C>G (p.Ala996Gly)
c.2150C>G (p.Ala717Gly)
c.1781C>G (p.Ala594Gly)
n.3292C>G
n.749C>G
c.4829C>G (p.Ala1610Gly)
n.2826C>G
c.2197C>G
c.2111C>G
n.1495C>G
c.2171C>G (p.Ala724Gly)
c.2330C>G (p.Ala777Gly)
c.4460C>G (p.Ala1487Gly)
c.4580C>G (p.Ala1527Gly)
c.3659C>G (p.Ala1220Gly)
c.3479C>G (p.Ala1160Gly)
c.3239C>G (p.Ala1080Gly)
c.2858C>G (p.Ala953Gly)
c.1721C>G (p.Ala574Gly)
c.4790C>G (p.Ala1597Gly)
c.4691C>G (p.Ala1564Gly)
c.4661C>G (p.Ala1554Gly)
c.4631C>G (p.Ala1544Gly)
c.4502C>G (p.Ala1501Gly)
c.4481C>G (p.Ala1494Gly)
n.4776C>G
6g.157201054C>TCA4067717ARID1Bc.4670C>T (p.Ala1557Val)
c.4739C>T (p.Ala1580Val)
c.4958C>T (p.Ala1653Val)
c.4709C>T (p.Ala1570Val)
c.4421C>T (p.Ala1474Val)
c.2987C>T (p.Ala996Val)
c.2150C>T (p.Ala717Val)
c.1781C>T (p.Ala594Val)
n.3292C>T
n.749C>T
c.4829C>T (p.Ala1610Val)
n.2826C>T
c.2197C>T
c.2111C>T
n.1495C>T
c.2171C>T (p.Ala724Val)
c.2330C>T (p.Ala777Val)
c.4460C>T (p.Ala1487Val)
c.4580C>T (p.Ala1527Val)
c.3659C>T (p.Ala1220Val)
c.3479C>T (p.Ala1160Val)
c.3239C>T (p.Ala1080Val)
c.2858C>T (p.Ala953Val)
c.1721C>T (p.Ala574Val)
c.4790C>T (p.Ala1597Val)
c.4691C>T (p.Ala1564Val)
c.4661C>T (p.Ala1554Val)
c.4631C>T (p.Ala1544Val)
c.4502C>T (p.Ala1501Val)
c.4481C>T (p.Ala1494Val)
n.4776C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
6g.157201055G>ACA4067718ARID1Bc.4671G>A (p.Ala1557=)
c.4740G>A (p.Ala1580=)
c.4959G>A (p.Ala1653=)
c.4710G>A (p.Ala1570=)
c.4422G>A (p.Ala1474=)
c.2988G>A (p.Ala996=)
c.2151G>A (p.Ala717=)
c.1782G>A (p.Ala594=)
n.3293G>A
n.750G>A
c.4830G>A (p.Ala1610=)
n.2827G>A
c.2198G>A
c.2112G>A
n.1496G>A
c.2172G>A (p.Ala724=)
c.2331G>A (p.Ala777=)
c.4461G>A (p.Ala1487=)
c.4581G>A (p.Ala1527=)
c.3660G>A (p.Ala1220=)
c.3480G>A (p.Ala1160=)
c.3240G>A (p.Ala1080=)
c.2859G>A (p.Ala953=)
c.1722G>A (p.Ala574=)
c.4791G>A (p.Ala1597=)
c.4692G>A (p.Ala1564=)
c.4662G>A (p.Ala1554=)
c.4632G>A (p.Ala1544=)
c.4503G>A (p.Ala1501=)
c.4482G>A (p.Ala1494=)
n.4777G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.157201055G>CCA452978403ARID1Bc.4671G>C (p.Ala1557=)
c.4740G>C (p.Ala1580=)
c.4959G>C (p.Ala1653=)
c.4710G>C (p.Ala1570=)
c.4422G>C (p.Ala1474=)
c.2988G>C (p.Ala996=)
c.2151G>C (p.Ala717=)
c.1782G>C (p.Ala594=)
n.3293G>C
n.750G>C
c.4830G>C (p.Ala1610=)
n.2827G>C
c.2198G>C
c.2112G>C
n.1496G>C
c.2172G>C (p.Ala724=)
c.2331G>C (p.Ala777=)
c.4461G>C (p.Ala1487=)
c.4581G>C (p.Ala1527=)
c.3660G>C (p.Ala1220=)
c.3480G>C (p.Ala1160=)
c.3240G>C (p.Ala1080=)
c.2859G>C (p.Ala953=)
c.1722G>C (p.Ala574=)
c.4791G>C (p.Ala1597=)
c.4692G>C (p.Ala1564=)
c.4662G>C (p.Ala1554=)
c.4632G>C (p.Ala1544=)
c.4503G>C (p.Ala1501=)
c.4482G>C (p.Ala1494=)
n.4777G>C
dbSNP
6g.157201055G=CA1675522887ARID1Bc.4671G= (p.Ala1557=)
c.4740G= (p.Ala1580=)
c.4959G= (p.Ala1653=)
c.4710G= (p.Ala1570=)
c.4422G= (p.Ala1474=)
c.2988G= (p.Ala996=)
c.2151G= (p.Ala717=)
c.1782G= (p.Ala594=)
n.3293G=
n.750G=
c.4830G= (p.Ala1610=)
n.2827G=
c.2198G=
c.2112G=
n.1496G=
c.2172G= (p.Ala724=)
c.2331G= (p.Ala777=)
c.4461G= (p.Ala1487=)
c.4581G= (p.Ala1527=)
c.3660G= (p.Ala1220=)
c.3480G= (p.Ala1160=)
c.3240G= (p.Ala1080=)
c.2859G= (p.Ala953=)
c.1722G= (p.Ala574=)
c.4791G= (p.Ala1597=)
c.4692G= (p.Ala1564=)
c.4662G= (p.Ala1554=)
c.4632G= (p.Ala1544=)
c.4503G= (p.Ala1501=)
c.4482G= (p.Ala1494=)
n.4777G=
6g.157201055G>TCA452978404ARID1Bc.4671G>T (p.Ala1557=)
c.4740G>T (p.Ala1580=)
c.4959G>T (p.Ala1653=)
c.4710G>T (p.Ala1570=)
c.4422G>T (p.Ala1474=)
c.2988G>T (p.Ala996=)
c.2151G>T (p.Ala717=)
c.1782G>T (p.Ala594=)
n.3293G>T
n.750G>T
c.4830G>T (p.Ala1610=)
n.2827G>T
c.2198G>T
c.2112G>T
n.1496G>T
c.2172G>T (p.Ala724=)
c.2331G>T (p.Ala777=)
c.4461G>T (p.Ala1487=)
c.4581G>T (p.Ala1527=)
c.3660G>T (p.Ala1220=)
c.3480G>T (p.Ala1160=)
c.3240G>T (p.Ala1080=)
c.2859G>T (p.Ala953=)
c.1722G>T (p.Ala574=)
c.4791G>T (p.Ala1597=)
c.4692G>T (p.Ala1564=)
c.4662G>T (p.Ala1554=)
c.4632G>T (p.Ala1544=)
c.4503G>T (p.Ala1501=)
c.4482G>T (p.Ala1494=)
n.4777G>T
dbSNP gnomAD v3 gnomAD v4
6g.157201056C>ACA366241739ARID1Bc.4672C>A (p.Pro1558Thr)
c.4741C>A (p.Pro1581Thr)
c.4960C>A (p.Pro1654Thr)
c.4711C>A (p.Pro1571Thr)
c.4423C>A (p.Pro1475Thr)
c.2989C>A (p.Pro997Thr)
c.2152C>A (p.Pro718Thr)
c.1783C>A (p.Pro595Thr)
n.3294C>A
n.751C>A
c.4831C>A (p.Pro1611Thr)
n.2828C>A
c.2199C>A
c.2113C>A
n.1497C>A
c.2173C>A (p.Pro725Thr)
c.2332C>A (p.Pro778Thr)
c.4462C>A (p.Pro1488Thr)
c.4582C>A (p.Pro1528Thr)
c.3661C>A (p.Pro1221Thr)
c.3481C>A (p.Pro1161Thr)
c.3241C>A (p.Pro1081Thr)
c.2860C>A (p.Pro954Thr)
c.1723C>A (p.Pro575Thr)
c.4792C>A (p.Pro1598Thr)
c.4693C>A (p.Pro1565Thr)
c.4663C>A (p.Pro1555Thr)
c.4633C>A (p.Pro1545Thr)
c.4504C>A (p.Pro1502Thr)
c.4483C>A (p.Pro1495Thr)
n.4778C>A
6g.157201056C=CA1675522896ARID1Bc.4672C= (p.Pro1558=)
c.4741C= (p.Pro1581=)
c.4960C= (p.Pro1654=)
c.4711C= (p.Pro1571=)
c.4423C= (p.Pro1475=)
c.2989C= (p.Pro997=)
c.2152C= (p.Pro718=)
c.1783C= (p.Pro595=)
n.3294C=
n.751C=
c.4831C= (p.Pro1611=)
n.2828C=
c.2199C=
c.2113C=
n.1497C=
c.2173C= (p.Pro725=)
c.2332C= (p.Pro778=)
c.4462C= (p.Pro1488=)
c.4582C= (p.Pro1528=)
c.3661C= (p.Pro1221=)
c.3481C= (p.Pro1161=)
c.3241C= (p.Pro1081=)
c.2860C= (p.Pro954=)
c.1723C= (p.Pro575=)
c.4792C= (p.Pro1598=)
c.4693C= (p.Pro1565=)
c.4663C= (p.Pro1555=)
c.4633C= (p.Pro1545=)
c.4504C= (p.Pro1502=)
c.4483C= (p.Pro1495=)
n.4778C=
6g.157201056C>GCA366241736ARID1Bc.4672C>G (p.Pro1558Ala)
c.4741C>G (p.Pro1581Ala)
c.4960C>G (p.Pro1654Ala)
c.4711C>G (p.Pro1571Ala)
c.4423C>G (p.Pro1475Ala)
c.2989C>G (p.Pro997Ala)
c.2152C>G (p.Pro718Ala)
c.1783C>G (p.Pro595Ala)
n.3294C>G
n.751C>G
c.4831C>G (p.Pro1611Ala)
n.2828C>G
c.2199C>G
c.2113C>G
n.1497C>G
c.2173C>G (p.Pro725Ala)
c.2332C>G (p.Pro778Ala)
c.4462C>G (p.Pro1488Ala)
c.4582C>G (p.Pro1528Ala)
c.3661C>G (p.Pro1221Ala)
c.3481C>G (p.Pro1161Ala)
c.3241C>G (p.Pro1081Ala)
c.2860C>G (p.Pro954Ala)
c.1723C>G (p.Pro575Ala)
c.4792C>G (p.Pro1598Ala)
c.4693C>G (p.Pro1565Ala)
c.4663C>G (p.Pro1555Ala)
c.4633C>G (p.Pro1545Ala)
c.4504C>G (p.Pro1502Ala)
c.4483C>G (p.Pro1495Ala)
n.4778C>G
COSMIC COSMIC
6g.157201056C>TCA4067719ARID1Bc.4672C>T (p.Pro1558Ser)
c.4741C>T (p.Pro1581Ser)
c.4960C>T (p.Pro1654Ser)
c.4711C>T (p.Pro1571Ser)
c.4423C>T (p.Pro1475Ser)
c.2989C>T (p.Pro997Ser)
c.2152C>T (p.Pro718Ser)
c.1783C>T (p.Pro595Ser)
n.3294C>T
n.751C>T
c.4831C>T (p.Pro1611Ser)
n.2828C>T
c.2199C>T
c.2113C>T
n.1497C>T
c.2173C>T (p.Pro725Ser)
c.2332C>T (p.Pro778Ser)
c.4462C>T (p.Pro1488Ser)
c.4582C>T (p.Pro1528Ser)
c.3661C>T (p.Pro1221Ser)
c.3481C>T (p.Pro1161Ser)
c.3241C>T (p.Pro1081Ser)
c.2860C>T (p.Pro954Ser)
c.1723C>T (p.Pro575Ser)
c.4792C>T (p.Pro1598Ser)
c.4693C>T (p.Pro1565Ser)
c.4663C>T (p.Pro1555Ser)
c.4633C>T (p.Pro1545Ser)
c.4504C>T (p.Pro1502Ser)
c.4483C>T (p.Pro1495Ser)
n.4778C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.157201060dupCA1139659898ARID1Bc.4676dup (p.Tyr1560LeufsTer20)
c.4745dup (p.Tyr1583LeufsTer20)
c.4964dup (p.Tyr1656LeufsTer20)
c.4715dup (p.Tyr1573LeufsTer20)
c.4427dup (p.Tyr1477LeufsTer20)
c.2993dup (p.Tyr999LeufsTer20)
c.2156dup (p.Tyr720LeufsTer20)
c.1787dup (p.Tyr597LeufsTer20)
n.3298dup
n.755dup
c.4835dup (p.Tyr1613LeufsTer20)
n.2832dup
c.2203dup
c.2117dup
n.1501dup
c.2177dup (p.Tyr727LeufsTer20)
c.2336dup (p.Tyr780LeufsTer20)
c.4466dup (p.Tyr1490LeufsTer20)
c.4586dup (p.Tyr1530LeufsTer20)
c.3665dup (p.Tyr1223LeufsTer20)
c.3485dup (p.Tyr1163LeufsTer20)
c.3245dup (p.Tyr1083LeufsTer20)
c.2864dup (p.Tyr956LeufsTer20)
c.1727dup (p.Tyr577LeufsTer20)
c.4796dup (p.Tyr1600LeufsTer20)
c.4697dup (p.Tyr1567LeufsTer20)
c.4667dup (p.Tyr1557LeufsTer20)
c.4637dup (p.Tyr1547LeufsTer20)
c.4508dup (p.Tyr1504LeufsTer20)
c.4487dup (p.Tyr1497LeufsTer20)
n.4782dup
ClinVar dbSNP
6g.157201060delCA913109713ARID1Bc.4676del (p.Pro1559LeufsTer5)
c.4745del (p.Pro1582LeufsTer5)
c.4964del (p.Pro1655LeufsTer5)
c.4715del (p.Pro1572LeufsTer5)
c.4427del (p.Pro1476LeufsTer5)
c.2993del (p.Pro998LeufsTer5)
c.2156del (p.Pro719LeufsTer5)
c.1787del (p.Pro596LeufsTer5)
n.3298del
n.755del
c.4835del (p.Pro1612LeufsTer5)
n.2832del
c.2203del
c.2117del
n.1501del
c.2177del (p.Pro726LeufsTer5)
c.2336del (p.Pro779LeufsTer5)
c.4466del (p.Pro1489LeufsTer5)
c.4586del (p.Pro1529LeufsTer5)
c.3665del (p.Pro1222LeufsTer5)
c.3485del (p.Pro1162LeufsTer5)
c.3245del (p.Pro1082LeufsTer5)
c.2864del (p.Pro955LeufsTer5)
c.1727del (p.Pro576LeufsTer5)
c.4796del (p.Pro1599LeufsTer5)
c.4697del (p.Pro1566LeufsTer5)
c.4667del (p.Pro1556LeufsTer5)
c.4637del (p.Pro1546LeufsTer5)
c.4508del (p.Pro1503LeufsTer5)
c.4487del (p.Pro1496LeufsTer5)
n.4782del
6g.157201057C>ACA366241741ARID1Bc.4673C>A (p.Pro1558His)
c.4742C>A (p.Pro1581His)
c.4961C>A (p.Pro1654His)
c.4712C>A (p.Pro1571His)
c.4424C>A (p.Pro1475His)
c.2990C>A (p.Pro997His)
c.2153C>A (p.Pro718His)
c.1784C>A (p.Pro595His)
n.3295C>A
n.752C>A
c.4832C>A (p.Pro1611His)
n.2829C>A
c.2200C>A
c.2114C>A
n.1498C>A
c.2174C>A (p.Pro725His)
c.2333C>A (p.Pro778His)
c.4463C>A (p.Pro1488His)
c.4583C>A (p.Pro1528His)
c.3662C>A (p.Pro1221His)
c.3482C>A (p.Pro1161His)
c.3242C>A (p.Pro1081His)
c.2861C>A (p.Pro954His)
c.1724C>A (p.Pro575His)
c.4793C>A (p.Pro1598His)
c.4694C>A (p.Pro1565His)
c.4664C>A (p.Pro1555His)
c.4634C>A (p.Pro1545His)
c.4505C>A (p.Pro1502His)
c.4484C>A (p.Pro1495His)
n.4779C>A
6g.157201057C>GCA366241744ARID1Bc.4673C>G (p.Pro1558Arg)
c.4742C>G (p.Pro1581Arg)
c.4961C>G (p.Pro1654Arg)
c.4712C>G (p.Pro1571Arg)
c.4424C>G (p.Pro1475Arg)
c.2990C>G (p.Pro997Arg)
c.2153C>G (p.Pro718Arg)
c.1784C>G (p.Pro595Arg)
n.3295C>G
n.752C>G
c.4832C>G (p.Pro1611Arg)
n.2829C>G
c.2200C>G
c.2114C>G
n.1498C>G
c.2174C>G (p.Pro725Arg)
c.2333C>G (p.Pro778Arg)
c.4463C>G (p.Pro1488Arg)
c.4583C>G (p.Pro1528Arg)
c.3662C>G (p.Pro1221Arg)
c.3482C>G (p.Pro1161Arg)
c.3242C>G (p.Pro1081Arg)
c.2861C>G (p.Pro954Arg)
c.1724C>G (p.Pro575Arg)
c.4793C>G (p.Pro1598Arg)
c.4694C>G (p.Pro1565Arg)
c.4664C>G (p.Pro1555Arg)
c.4634C>G (p.Pro1545Arg)
c.4505C>G (p.Pro1502Arg)
c.4484C>G (p.Pro1495Arg)
n.4779C>G
dbSNP
6g.157201057C>TCA366241747ARID1Bc.4673C>T (p.Pro1558Leu)
c.4742C>T (p.Pro1581Leu)
c.4961C>T (p.Pro1654Leu)
c.4712C>T (p.Pro1571Leu)
c.4424C>T (p.Pro1475Leu)
c.2990C>T (p.Pro997Leu)
c.2153C>T (p.Pro718Leu)
c.1784C>T (p.Pro595Leu)
n.3295C>T
n.752C>T
c.4832C>T (p.Pro1611Leu)
n.2829C>T
c.2200C>T
c.2114C>T
n.1498C>T
c.2174C>T (p.Pro725Leu)
c.2333C>T (p.Pro778Leu)
c.4463C>T (p.Pro1488Leu)
c.4583C>T (p.Pro1528Leu)
c.3662C>T (p.Pro1221Leu)
c.3482C>T (p.Pro1161Leu)
c.3242C>T (p.Pro1081Leu)
c.2861C>T (p.Pro954Leu)
c.1724C>T (p.Pro575Leu)
c.4793C>T (p.Pro1598Leu)
c.4694C>T (p.Pro1565Leu)
c.4664C>T (p.Pro1555Leu)
c.4634C>T (p.Pro1545Leu)
c.4505C>T (p.Pro1502Leu)
c.4484C>T (p.Pro1495Leu)
n.4779C>T
6g.157201058C>ACA452978407ARID1Bc.4674C>A (p.Pro1558=)
c.4743C>A (p.Pro1581=)
c.4962C>A (p.Pro1654=)
c.4713C>A (p.Pro1571=)
c.4425C>A (p.Pro1475=)
c.2991C>A (p.Pro997=)
c.2154C>A (p.Pro718=)
c.1785C>A (p.Pro595=)
n.3296C>A
n.753C>A
c.4833C>A (p.Pro1611=)
n.2830C>A
c.2201C>A
c.2115C>A
n.1499C>A
c.2175C>A (p.Pro725=)
c.2334C>A (p.Pro778=)
c.4464C>A (p.Pro1488=)
c.4584C>A (p.Pro1528=)
c.3663C>A (p.Pro1221=)
c.3483C>A (p.Pro1161=)
c.3243C>A (p.Pro1081=)
c.2862C>A (p.Pro954=)
c.1725C>A (p.Pro575=)
c.4794C>A (p.Pro1598=)
c.4695C>A (p.Pro1565=)
c.4665C>A (p.Pro1555=)
c.4635C>A (p.Pro1545=)
c.4506C>A (p.Pro1502=)
c.4485C>A (p.Pro1495=)
n.4780C>A
dbSNP
6g.157201058C=CA1675522900ARID1Bc.4674C= (p.Pro1558=)
c.4743C= (p.Pro1581=)
c.4962C= (p.Pro1654=)
c.4713C= (p.Pro1571=)
c.4425C= (p.Pro1475=)
c.2991C= (p.Pro997=)
c.2154C= (p.Pro718=)
c.1785C= (p.Pro595=)
n.3296C=
n.753C=
c.4833C= (p.Pro1611=)
n.2830C=
c.2201C=
c.2115C=
n.1499C=
c.2175C= (p.Pro725=)
c.2334C= (p.Pro778=)
c.4464C= (p.Pro1488=)
c.4584C= (p.Pro1528=)
c.3663C= (p.Pro1221=)
c.3483C= (p.Pro1161=)
c.3243C= (p.Pro1081=)
c.2862C= (p.Pro954=)
c.1725C= (p.Pro575=)
c.4794C= (p.Pro1598=)
c.4695C= (p.Pro1565=)
c.4665C= (p.Pro1555=)
c.4635C= (p.Pro1545=)
c.4506C= (p.Pro1502=)
c.4485C= (p.Pro1495=)
n.4780C=
6g.157201058C>GCA4067720ARID1Bc.4674C>G (p.Pro1558=)
c.4743C>G (p.Pro1581=)
c.4962C>G (p.Pro1654=)
c.4713C>G (p.Pro1571=)
c.4425C>G (p.Pro1475=)
c.2991C>G (p.Pro997=)
c.2154C>G (p.Pro718=)
c.1785C>G (p.Pro595=)
n.3296C>G
n.753C>G
c.4833C>G (p.Pro1611=)
n.2830C>G
c.2201C>G
c.2115C>G
n.1499C>G
c.2175C>G (p.Pro725=)
c.2334C>G (p.Pro778=)
c.4464C>G (p.Pro1488=)
c.4584C>G (p.Pro1528=)
c.3663C>G (p.Pro1221=)
c.3483C>G (p.Pro1161=)
c.3243C>G (p.Pro1081=)
c.2862C>G (p.Pro954=)
c.1725C>G (p.Pro575=)
c.4794C>G (p.Pro1598=)
c.4695C>G (p.Pro1565=)
c.4665C>G (p.Pro1555=)
c.4635C>G (p.Pro1545=)
c.4506C>G (p.Pro1502=)
c.4485C>G (p.Pro1495=)
n.4780C>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.157201058C>TCA452978406ARID1Bc.4674C>T (p.Pro1558=)
c.4743C>T (p.Pro1581=)
c.4962C>T (p.Pro1654=)
c.4713C>T (p.Pro1571=)
c.4425C>T (p.Pro1475=)
c.2991C>T (p.Pro997=)
c.2154C>T (p.Pro718=)
c.1785C>T (p.Pro595=)
n.3296C>T
n.753C>T
c.4833C>T (p.Pro1611=)
n.2830C>T
c.2201C>T
c.2115C>T
n.1499C>T
c.2175C>T (p.Pro725=)
c.2334C>T (p.Pro778=)
c.4464C>T (p.Pro1488=)
c.4584C>T (p.Pro1528=)
c.3663C>T (p.Pro1221=)
c.3483C>T (p.Pro1161=)
c.3243C>T (p.Pro1081=)
c.2862C>T (p.Pro954=)
c.1725C>T (p.Pro575=)
c.4794C>T (p.Pro1598=)
c.4695C>T (p.Pro1565=)
c.4665C>T (p.Pro1555=)
c.4635C>T (p.Pro1545=)
c.4506C>T (p.Pro1502=)
c.4485C>T (p.Pro1495=)
n.4780C>T
dbSNP COSMIC COSMIC
6g.157201059C>ACA366241753ARID1Bc.4675C>A (p.Pro1559Thr)
c.4744C>A (p.Pro1582Thr)
c.4963C>A (p.Pro1655Thr)
c.4714C>A (p.Pro1572Thr)
c.4426C>A (p.Pro1476Thr)
c.2992C>A (p.Pro998Thr)
c.2155C>A (p.Pro719Thr)
c.1786C>A (p.Pro596Thr)
n.3297C>A
n.754C>A
c.4834C>A (p.Pro1612Thr)
n.2831C>A
c.2202C>A
c.2116C>A
n.1500C>A
c.2176C>A (p.Pro726Thr)
c.2335C>A (p.Pro779Thr)
c.4465C>A (p.Pro1489Thr)
c.4585C>A (p.Pro1529Thr)
c.3664C>A (p.Pro1222Thr)
c.3484C>A (p.Pro1162Thr)
c.3244C>A (p.Pro1082Thr)
c.2863C>A (p.Pro955Thr)
c.1726C>A (p.Pro576Thr)
c.4795C>A (p.Pro1599Thr)
c.4696C>A (p.Pro1566Thr)
c.4666C>A (p.Pro1556Thr)
c.4636C>A (p.Pro1546Thr)
c.4507C>A (p.Pro1503Thr)
c.4486C>A (p.Pro1496Thr)
n.4781C>A
6g.157201059C=CA1675522905ARID1Bc.4675C= (p.Pro1559=)
c.4744C= (p.Pro1582=)
c.4963C= (p.Pro1655=)
c.4714C= (p.Pro1572=)
c.4426C= (p.Pro1476=)
c.2992C= (p.Pro998=)
c.2155C= (p.Pro719=)
c.1786C= (p.Pro596=)
n.3297C=
n.754C=
c.4834C= (p.Pro1612=)
n.2831C=
c.2202C=
c.2116C=
n.1500C=
c.2176C= (p.Pro726=)
c.2335C= (p.Pro779=)
c.4465C= (p.Pro1489=)
c.4585C= (p.Pro1529=)
c.3664C= (p.Pro1222=)
c.3484C= (p.Pro1162=)
c.3244C= (p.Pro1082=)
c.2863C= (p.Pro955=)
c.1726C= (p.Pro576=)
c.4795C= (p.Pro1599=)
c.4696C= (p.Pro1566=)
c.4666C= (p.Pro1556=)
c.4636C= (p.Pro1546=)
c.4507C= (p.Pro1503=)
c.4486C= (p.Pro1496=)
n.4781C=
6g.157201059C>GCA366241755ARID1Bc.4675C>G (p.Pro1559Ala)
c.4744C>G (p.Pro1582Ala)
c.4963C>G (p.Pro1655Ala)
c.4714C>G (p.Pro1572Ala)
c.4426C>G (p.Pro1476Ala)
c.2992C>G (p.Pro998Ala)
c.2155C>G (p.Pro719Ala)
c.1786C>G (p.Pro596Ala)
n.3297C>G
n.754C>G
c.4834C>G (p.Pro1612Ala)
n.2831C>G
c.2202C>G
c.2116C>G
n.1500C>G
c.2176C>G (p.Pro726Ala)
c.2335C>G (p.Pro779Ala)
c.4465C>G (p.Pro1489Ala)
c.4585C>G (p.Pro1529Ala)
c.3664C>G (p.Pro1222Ala)
c.3484C>G (p.Pro1162Ala)
c.3244C>G (p.Pro1082Ala)
c.2863C>G (p.Pro955Ala)
c.1726C>G (p.Pro576Ala)
c.4795C>G (p.Pro1599Ala)
c.4696C>G (p.Pro1566Ala)
c.4666C>G (p.Pro1556Ala)
c.4636C>G (p.Pro1546Ala)
c.4507C>G (p.Pro1503Ala)
c.4486C>G (p.Pro1496Ala)
n.4781C>G
6g.157201059C>TCA366241757ARID1Bc.4675C>T (p.Pro1559Ser)
c.4744C>T (p.Pro1582Ser)
c.4963C>T (p.Pro1655Ser)
c.4714C>T (p.Pro1572Ser)
c.4426C>T (p.Pro1476Ser)
c.2992C>T (p.Pro998Ser)
c.2155C>T (p.Pro719Ser)
c.1786C>T (p.Pro596Ser)
n.3297C>T
n.754C>T
c.4834C>T (p.Pro1612Ser)
n.2831C>T
c.2202C>T
c.2116C>T
n.1500C>T
c.2176C>T (p.Pro726Ser)
c.2335C>T (p.Pro779Ser)
c.4465C>T (p.Pro1489Ser)
c.4585C>T (p.Pro1529Ser)
c.3664C>T (p.Pro1222Ser)
c.3484C>T (p.Pro1162Ser)
c.3244C>T (p.Pro1082Ser)
c.2863C>T (p.Pro955Ser)
c.1726C>T (p.Pro576Ser)
c.4795C>T (p.Pro1599Ser)
c.4696C>T (p.Pro1566Ser)
c.4666C>T (p.Pro1556Ser)
c.4636C>T (p.Pro1546Ser)
c.4507C>T (p.Pro1503Ser)
c.4486C>T (p.Pro1496Ser)
n.4781C>T
dbSNP gnomAD v2 gnomAD v4
6g.157201060C>ACA366241760ARID1Bc.4676C>A (p.Pro1559His)
c.4745C>A (p.Pro1582His)
c.4964C>A (p.Pro1655His)
c.4715C>A (p.Pro1572His)
c.4427C>A (p.Pro1476His)
c.2993C>A (p.Pro998His)
c.2156C>A (p.Pro719His)
c.1787C>A (p.Pro596His)
n.3298C>A
n.755C>A
c.4835C>A (p.Pro1612His)
n.2832C>A
c.2203C>A
c.2117C>A
n.1501C>A
c.2177C>A (p.Pro726His)
c.2336C>A (p.Pro779His)
c.4466C>A (p.Pro1489His)
c.4586C>A (p.Pro1529His)
c.3665C>A (p.Pro1222His)
c.3485C>A (p.Pro1162His)
c.3245C>A (p.Pro1082His)
c.2864C>A (p.Pro955His)
c.1727C>A (p.Pro576His)
c.4796C>A (p.Pro1599His)
c.4697C>A (p.Pro1566His)
c.4667C>A (p.Pro1556His)
c.4637C>A (p.Pro1546His)
c.4508C>A (p.Pro1503His)
c.4487C>A (p.Pro1496His)
n.4782C>A
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.157201060C=CA1675522908ARID1Bc.4676C= (p.Pro1559=)
c.4745C= (p.Pro1582=)
c.4964C= (p.Pro1655=)
c.4715C= (p.Pro1572=)
c.4427C= (p.Pro1476=)
c.2993C= (p.Pro998=)
c.2156C= (p.Pro719=)
c.1787C= (p.Pro596=)
n.3298C=
n.755C=
c.4835C= (p.Pro1612=)
n.2832C=
c.2203C=
c.2117C=
n.1501C=
c.2177C= (p.Pro726=)
c.2336C= (p.Pro779=)
c.4466C= (p.Pro1489=)
c.4586C= (p.Pro1529=)
c.3665C= (p.Pro1222=)
c.3485C= (p.Pro1162=)
c.3245C= (p.Pro1082=)
c.2864C= (p.Pro955=)
c.1727C= (p.Pro576=)
c.4796C= (p.Pro1599=)
c.4697C= (p.Pro1566=)
c.4667C= (p.Pro1556=)
c.4637C= (p.Pro1546=)
c.4508C= (p.Pro1503=)
c.4487C= (p.Pro1496=)
n.4782C=
6g.157201060C>GCA366241761ARID1Bc.4676C>G (p.Pro1559Arg)
c.4745C>G (p.Pro1582Arg)
c.4964C>G (p.Pro1655Arg)
c.4715C>G (p.Pro1572Arg)
c.4427C>G (p.Pro1476Arg)
c.2993C>G (p.Pro998Arg)
c.2156C>G (p.Pro719Arg)
c.1787C>G (p.Pro596Arg)
n.3298C>G
n.755C>G
c.4835C>G (p.Pro1612Arg)
n.2832C>G
c.2203C>G
c.2117C>G
n.1501C>G
c.2177C>G (p.Pro726Arg)
c.2336C>G (p.Pro779Arg)
c.4466C>G (p.Pro1489Arg)
c.4586C>G (p.Pro1529Arg)
c.3665C>G (p.Pro1222Arg)
c.3485C>G (p.Pro1162Arg)
c.3245C>G (p.Pro1082Arg)
c.2864C>G (p.Pro955Arg)
c.1727C>G (p.Pro576Arg)
c.4796C>G (p.Pro1599Arg)
c.4697C>G (p.Pro1566Arg)
c.4667C>G (p.Pro1556Arg)
c.4637C>G (p.Pro1546Arg)
c.4508C>G (p.Pro1503Arg)
c.4487C>G (p.Pro1496Arg)
n.4782C>G
6g.157201060C>TCA366241763ARID1Bc.4676C>T (p.Pro1559Leu)
c.4745C>T (p.Pro1582Leu)
c.4964C>T (p.Pro1655Leu)
c.4715C>T (p.Pro1572Leu)
c.4427C>T (p.Pro1476Leu)
c.2993C>T (p.Pro998Leu)
c.2156C>T (p.Pro719Leu)
c.1787C>T (p.Pro596Leu)
n.3298C>T
n.755C>T
c.4835C>T (p.Pro1612Leu)
n.2832C>T
c.2203C>T
c.2117C>T
n.1501C>T
c.2177C>T (p.Pro726Leu)
c.2336C>T (p.Pro779Leu)
c.4466C>T (p.Pro1489Leu)
c.4586C>T (p.Pro1529Leu)
c.3665C>T (p.Pro1222Leu)
c.3485C>T (p.Pro1162Leu)
c.3245C>T (p.Pro1082Leu)
c.2864C>T (p.Pro955Leu)
c.1727C>T (p.Pro576Leu)
c.4796C>T (p.Pro1599Leu)
c.4697C>T (p.Pro1566Leu)
c.4667C>T (p.Pro1556Leu)
c.4637C>T (p.Pro1546Leu)
c.4508C>T (p.Pro1503Leu)
c.4487C>T (p.Pro1496Leu)
n.4782C>T
ClinVar gnomAD v4 COSMIC COSMIC
6g.157201061T>ACA452978411ARID1Bc.4677T>A (p.Pro1559=)
c.4746T>A (p.Pro1582=)
c.4965T>A (p.Pro1655=)
c.4716T>A (p.Pro1572=)
c.4428T>A (p.Pro1476=)
c.2994T>A (p.Pro998=)
c.2157T>A (p.Pro719=)
c.1788T>A (p.Pro596=)
n.3299T>A
n.756T>A
c.4836T>A (p.Pro1612=)
n.2833T>A
c.2204T>A
c.2118T>A
n.1502T>A
c.2178T>A (p.Pro726=)
c.2337T>A (p.Pro779=)
c.4467T>A (p.Pro1489=)
c.4587T>A (p.Pro1529=)
c.3666T>A (p.Pro1222=)
c.3486T>A (p.Pro1162=)
c.3246T>A (p.Pro1082=)
c.2865T>A (p.Pro955=)
c.1728T>A (p.Pro576=)
c.4797T>A (p.Pro1599=)
c.4698T>A (p.Pro1566=)
c.4668T>A (p.Pro1556=)
c.4638T>A (p.Pro1546=)
c.4509T>A (p.Pro1503=)
c.4488T>A (p.Pro1496=)
n.4783T>A
6g.157201061T>CCA452978412ARID1Bc.4677T>C (p.Pro1559=)
c.4746T>C (p.Pro1582=)
c.4965T>C (p.Pro1655=)
c.4716T>C (p.Pro1572=)
c.4428T>C (p.Pro1476=)
c.2994T>C (p.Pro998=)
c.2157T>C (p.Pro719=)
c.1788T>C (p.Pro596=)
n.3299T>C
n.756T>C
c.4836T>C (p.Pro1612=)
n.2833T>C
c.2204T>C
c.2118T>C
n.1502T>C
c.2178T>C (p.Pro726=)
c.2337T>C (p.Pro779=)
c.4467T>C (p.Pro1489=)
c.4587T>C (p.Pro1529=)
c.3666T>C (p.Pro1222=)
c.3486T>C (p.Pro1162=)
c.3246T>C (p.Pro1082=)
c.2865T>C (p.Pro955=)
c.1728T>C (p.Pro576=)
c.4797T>C (p.Pro1599=)
c.4698T>C (p.Pro1566=)
c.4668T>C (p.Pro1556=)
c.4638T>C (p.Pro1546=)
c.4509T>C (p.Pro1503=)
c.4488T>C (p.Pro1496=)
n.4783T>C
6g.157201061T>GCA452978413ARID1Bc.4677T>G (p.Pro1559=)
c.4746T>G (p.Pro1582=)
c.4965T>G (p.Pro1655=)
c.4716T>G (p.Pro1572=)
c.4428T>G (p.Pro1476=)
c.2994T>G (p.Pro998=)
c.2157T>G (p.Pro719=)
c.1788T>G (p.Pro596=)
n.3299T>G
n.756T>G
c.4836T>G (p.Pro1612=)
n.2833T>G
c.2204T>G
c.2118T>G
n.1502T>G
c.2178T>G (p.Pro726=)
c.2337T>G (p.Pro779=)
c.4467T>G (p.Pro1489=)
c.4587T>G (p.Pro1529=)
c.3666T>G (p.Pro1222=)
c.3486T>G (p.Pro1162=)
c.3246T>G (p.Pro1082=)
c.2865T>G (p.Pro955=)
c.1728T>G (p.Pro576=)
c.4797T>G (p.Pro1599=)
c.4698T>G (p.Pro1566=)
c.4668T>G (p.Pro1556=)
c.4638T>G (p.Pro1546=)
c.4509T>G (p.Pro1503=)
c.4488T>G (p.Pro1496=)
n.4783T>G
6g.157201062T>ACA366241769ARID1Bc.4678T>A (p.Tyr1560Asn)
c.4747T>A (p.Tyr1583Asn)
c.4966T>A (p.Tyr1656Asn)
c.4717T>A (p.Tyr1573Asn)
c.4429T>A (p.Tyr1477Asn)
c.2995T>A (p.Tyr999Asn)
c.2158T>A (p.Tyr720Asn)
c.1789T>A (p.Tyr597Asn)
n.3300T>A
n.757T>A
c.4837T>A (p.Tyr1613Asn)
n.2834T>A
c.2205T>A
c.2119T>A
n.1503T>A
c.2179T>A (p.Tyr727Asn)
c.2338T>A (p.Tyr780Asn)
c.4468T>A (p.Tyr1490Asn)
c.4588T>A (p.Tyr1530Asn)
c.3667T>A (p.Tyr1223Asn)
c.3487T>A (p.Tyr1163Asn)
c.3247T>A (p.Tyr1083Asn)
c.2866T>A (p.Tyr956Asn)
c.1729T>A (p.Tyr577Asn)
c.4798T>A (p.Tyr1600Asn)
c.4699T>A (p.Tyr1567Asn)
c.4669T>A (p.Tyr1557Asn)
c.4639T>A (p.Tyr1547Asn)
c.4510T>A (p.Tyr1504Asn)
c.4489T>A (p.Tyr1497Asn)
n.4784T>A
6g.157201062T>CCA366241767ARID1Bc.4678T>C (p.Tyr1560His)
c.4747T>C (p.Tyr1583His)
c.4966T>C (p.Tyr1656His)
c.4717T>C (p.Tyr1573His)
c.4429T>C (p.Tyr1477His)
c.2995T>C (p.Tyr999His)
c.2158T>C (p.Tyr720His)
c.1789T>C (p.Tyr597His)
n.3300T>C
n.757T>C
c.4837T>C (p.Tyr1613His)
n.2834T>C
c.2205T>C
c.2119T>C
n.1503T>C
c.2179T>C (p.Tyr727His)
c.2338T>C (p.Tyr780His)
c.4468T>C (p.Tyr1490His)
c.4588T>C (p.Tyr1530His)
c.3667T>C (p.Tyr1223His)
c.3487T>C (p.Tyr1163His)
c.3247T>C (p.Tyr1083His)
c.2866T>C (p.Tyr956His)
c.1729T>C (p.Tyr577His)
c.4798T>C (p.Tyr1600His)
c.4699T>C (p.Tyr1567His)
c.4669T>C (p.Tyr1557His)
c.4639T>C (p.Tyr1547His)
c.4510T>C (p.Tyr1504His)
c.4489T>C (p.Tyr1497His)
n.4784T>C
6g.157201062T>GCA366241765ARID1Bc.4678T>G (p.Tyr1560Asp)
c.4747T>G (p.Tyr1583Asp)
c.4966T>G (p.Tyr1656Asp)
c.4717T>G (p.Tyr1573Asp)
c.4429T>G (p.Tyr1477Asp)
c.2995T>G (p.Tyr999Asp)
c.2158T>G (p.Tyr720Asp)
c.1789T>G (p.Tyr597Asp)
n.3300T>G
n.757T>G
c.4837T>G (p.Tyr1613Asp)
n.2834T>G
c.2205T>G
c.2119T>G
n.1503T>G
c.2179T>G (p.Tyr727Asp)
c.2338T>G (p.Tyr780Asp)
c.4468T>G (p.Tyr1490Asp)
c.4588T>G (p.Tyr1530Asp)
c.3667T>G (p.Tyr1223Asp)
c.3487T>G (p.Tyr1163Asp)
c.3247T>G (p.Tyr1083Asp)
c.2866T>G (p.Tyr956Asp)
c.1729T>G (p.Tyr577Asp)
c.4798T>G (p.Tyr1600Asp)
c.4699T>G (p.Tyr1567Asp)
c.4669T>G (p.Tyr1557Asp)
c.4639T>G (p.Tyr1547Asp)
c.4510T>G (p.Tyr1504Asp)
c.4489T>G (p.Tyr1497Asp)
n.4784T>G
6g.157201063A=CA1675522911ARID1Bc.4679A= (p.Tyr1560=)
c.4748A= (p.Tyr1583=)
c.4967A= (p.Tyr1656=)
c.4718A= (p.Tyr1573=)
c.4430A= (p.Tyr1477=)
c.2996A= (p.Tyr999=)
c.2159A= (p.Tyr720=)
c.1790A= (p.Tyr597=)
n.3301A=
n.758A=
c.4838A= (p.Tyr1613=)
n.2835A=
c.2206A=
c.2120A=
n.1504A=
c.2180A= (p.Tyr727=)
c.2339A= (p.Tyr780=)
c.4469A= (p.Tyr1490=)
c.4589A= (p.Tyr1530=)
c.3668A= (p.Tyr1223=)
c.3488A= (p.Tyr1163=)
c.3248A= (p.Tyr1083=)
c.2867A= (p.Tyr956=)
c.1730A= (p.Tyr577=)
c.4799A= (p.Tyr1600=)
c.4700A= (p.Tyr1567=)
c.4670A= (p.Tyr1557=)
c.4640A= (p.Tyr1547=)
c.4511A= (p.Tyr1504=)
c.4490A= (p.Tyr1497=)
n.4785A=
6g.157201063A>CCA366241772ARID1Bc.4679A>C (p.Tyr1560Ser)
c.4748A>C (p.Tyr1583Ser)
c.4967A>C (p.Tyr1656Ser)
c.4718A>C (p.Tyr1573Ser)
c.4430A>C (p.Tyr1477Ser)
c.2996A>C (p.Tyr999Ser)
c.2159A>C (p.Tyr720Ser)
c.1790A>C (p.Tyr597Ser)
n.3301A>C
n.758A>C
c.4838A>C (p.Tyr1613Ser)
n.2835A>C
c.2206A>C
c.2120A>C
n.1504A>C
c.2180A>C (p.Tyr727Ser)
c.2339A>C (p.Tyr780Ser)
c.4469A>C (p.Tyr1490Ser)
c.4589A>C (p.Tyr1530Ser)
c.3668A>C (p.Tyr1223Ser)
c.3488A>C (p.Tyr1163Ser)
c.3248A>C (p.Tyr1083Ser)
c.2867A>C (p.Tyr956Ser)
c.1730A>C (p.Tyr577Ser)
c.4799A>C (p.Tyr1600Ser)
c.4700A>C (p.Tyr1567Ser)
c.4670A>C (p.Tyr1557Ser)
c.4640A>C (p.Tyr1547Ser)
c.4511A>C (p.Tyr1504Ser)
c.4490A>C (p.Tyr1497Ser)
n.4785A>C
6g.157201063A>GCA4067721ARID1Bc.4679A>G (p.Tyr1560Cys)
c.4748A>G (p.Tyr1583Cys)
c.4967A>G (p.Tyr1656Cys)
c.4718A>G (p.Tyr1573Cys)
c.4430A>G (p.Tyr1477Cys)
c.2996A>G (p.Tyr999Cys)
c.2159A>G (p.Tyr720Cys)
c.1790A>G (p.Tyr597Cys)
n.3301A>G
n.758A>G
c.4838A>G (p.Tyr1613Cys)
n.2835A>G
c.2206A>G
c.2120A>G
n.1504A>G
c.2180A>G (p.Tyr727Cys)
c.2339A>G (p.Tyr780Cys)
c.4469A>G (p.Tyr1490Cys)
c.4589A>G (p.Tyr1530Cys)
c.3668A>G (p.Tyr1223Cys)
c.3488A>G (p.Tyr1163Cys)
c.3248A>G (p.Tyr1083Cys)
c.2867A>G (p.Tyr956Cys)
c.1730A>G (p.Tyr577Cys)
c.4799A>G (p.Tyr1600Cys)
c.4700A>G (p.Tyr1567Cys)
c.4670A>G (p.Tyr1557Cys)
c.4640A>G (p.Tyr1547Cys)
c.4511A>G (p.Tyr1504Cys)
c.4490A>G (p.Tyr1497Cys)
n.4785A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.157201063A>TCA366241775ARID1Bc.4679A>T (p.Tyr1560Phe)
c.4748A>T (p.Tyr1583Phe)
c.4967A>T (p.Tyr1656Phe)
c.4718A>T (p.Tyr1573Phe)
c.4430A>T (p.Tyr1477Phe)
c.2996A>T (p.Tyr999Phe)
c.2159A>T (p.Tyr720Phe)
c.1790A>T (p.Tyr597Phe)
n.3301A>T
n.758A>T
c.4838A>T (p.Tyr1613Phe)
n.2835A>T
c.2206A>T
c.2120A>T
n.1504A>T
c.2180A>T (p.Tyr727Phe)
c.2339A>T (p.Tyr780Phe)
c.4469A>T (p.Tyr1490Phe)
c.4589A>T (p.Tyr1530Phe)
c.3668A>T (p.Tyr1223Phe)
c.3488A>T (p.Tyr1163Phe)
c.3248A>T (p.Tyr1083Phe)
c.2867A>T (p.Tyr956Phe)
c.1730A>T (p.Tyr577Phe)
c.4799A>T (p.Tyr1600Phe)
c.4700A>T (p.Tyr1567Phe)
c.4670A>T (p.Tyr1557Phe)
c.4640A>T (p.Tyr1547Phe)
c.4511A>T (p.Tyr1504Phe)
c.4490A>T (p.Tyr1497Phe)
n.4785A>T
dbSNP
6g.157201064C>ACA366241778ARID1Bc.4680C>A (p.Tyr1560Ter)
c.4749C>A (p.Tyr1583Ter)
c.4968C>A (p.Tyr1656Ter)
c.4719C>A (p.Tyr1573Ter)
c.4431C>A (p.Tyr1477Ter)
c.2997C>A (p.Tyr999Ter)
c.2160C>A (p.Tyr720Ter)
c.1791C>A (p.Tyr597Ter)
n.3302C>A
n.759C>A
c.4839C>A (p.Tyr1613Ter)
n.2836C>A
c.2207C>A
c.2121C>A
n.1505C>A
c.2181C>A (p.Tyr727Ter)
c.2340C>A (p.Tyr780Ter)
c.4470C>A (p.Tyr1490Ter)
c.4590C>A (p.Tyr1530Ter)
c.3669C>A (p.Tyr1223Ter)
c.3489C>A (p.Tyr1163Ter)
c.3249C>A (p.Tyr1083Ter)
c.2868C>A (p.Tyr956Ter)
c.1731C>A (p.Tyr577Ter)
c.4800C>A (p.Tyr1600Ter)
c.4701C>A (p.Tyr1567Ter)
c.4671C>A (p.Tyr1557Ter)
c.4641C>A (p.Tyr1547Ter)
c.4512C>A (p.Tyr1504Ter)
c.4491C>A (p.Tyr1497Ter)
n.4786C>A
dbSNP
6g.157201064C=CA1675522917ARID1Bc.4680C= (p.Tyr1560=)
c.4749C= (p.Tyr1583=)
c.4968C= (p.Tyr1656=)
c.4719C= (p.Tyr1573=)
c.4431C= (p.Tyr1477=)
c.2997C= (p.Tyr999=)
c.2160C= (p.Tyr720=)
c.1791C= (p.Tyr597=)
n.3302C=
n.759C=
c.4839C= (p.Tyr1613=)
n.2836C=
c.2207C=
c.2121C=
n.1505C=
c.2181C= (p.Tyr727=)
c.2340C= (p.Tyr780=)
c.4470C= (p.Tyr1490=)
c.4590C= (p.Tyr1530=)
c.3669C= (p.Tyr1223=)
c.3489C= (p.Tyr1163=)
c.3249C= (p.Tyr1083=)
c.2868C= (p.Tyr956=)
c.1731C= (p.Tyr577=)
c.4800C= (p.Tyr1600=)
c.4701C= (p.Tyr1567=)
c.4671C= (p.Tyr1557=)
c.4641C= (p.Tyr1547=)
c.4512C= (p.Tyr1504=)
c.4491C= (p.Tyr1497=)
n.4786C=
6g.157201064C>GCA366241780ARID1Bc.4680C>G (p.Tyr1560Ter)
c.4749C>G (p.Tyr1583Ter)
c.4968C>G (p.Tyr1656Ter)
c.4719C>G (p.Tyr1573Ter)
c.4431C>G (p.Tyr1477Ter)
c.2997C>G (p.Tyr999Ter)
c.2160C>G (p.Tyr720Ter)
c.1791C>G (p.Tyr597Ter)
n.3302C>G
n.759C>G
c.4839C>G (p.Tyr1613Ter)
n.2836C>G
c.2207C>G
c.2121C>G
n.1505C>G
c.2181C>G (p.Tyr727Ter)
c.2340C>G (p.Tyr780Ter)
c.4470C>G (p.Tyr1490Ter)
c.4590C>G (p.Tyr1530Ter)
c.3669C>G (p.Tyr1223Ter)
c.3489C>G (p.Tyr1163Ter)
c.3249C>G (p.Tyr1083Ter)
c.2868C>G (p.Tyr956Ter)
c.1731C>G (p.Tyr577Ter)
c.4800C>G (p.Tyr1600Ter)
c.4701C>G (p.Tyr1567Ter)
c.4671C>G (p.Tyr1557Ter)
c.4641C>G (p.Tyr1547Ter)
c.4512C>G (p.Tyr1504Ter)
c.4491C>G (p.Tyr1497Ter)
n.4786C>G
ClinVar dbSNP
6g.157201064C>TCA452978414ARID1Bc.4680C>T (p.Tyr1560=)
c.4749C>T (p.Tyr1583=)
c.4968C>T (p.Tyr1656=)
c.4719C>T (p.Tyr1573=)
c.4431C>T (p.Tyr1477=)
c.2997C>T (p.Tyr999=)
c.2160C>T (p.Tyr720=)
c.1791C>T (p.Tyr597=)
n.3302C>T
n.759C>T
c.4839C>T (p.Tyr1613=)
n.2836C>T
c.2207C>T
c.2121C>T
n.1505C>T
c.2181C>T (p.Tyr727=)
c.2340C>T (p.Tyr780=)
c.4470C>T (p.Tyr1490=)
c.4590C>T (p.Tyr1530=)
c.3669C>T (p.Tyr1223=)
c.3489C>T (p.Tyr1163=)
c.3249C>T (p.Tyr1083=)
c.2868C>T (p.Tyr956=)
c.1731C>T (p.Tyr577=)
c.4800C>T (p.Tyr1600=)
c.4701C>T (p.Tyr1567=)
c.4671C>T (p.Tyr1557=)
c.4641C>T (p.Tyr1547=)
c.4512C>T (p.Tyr1504=)
c.4491C>T (p.Tyr1497=)
n.4786C>T
dbSNP gnomAD v4
6g.157201065C>ACA366241783ARID1Bc.4681C>A (p.Pro1561Thr)
c.4750C>A (p.Pro1584Thr)
c.4969C>A (p.Pro1657Thr)
c.4720C>A (p.Pro1574Thr)
c.4432C>A (p.Pro1478Thr)
c.2998C>A (p.Pro1000Thr)
c.2161C>A (p.Pro721Thr)
c.1792C>A (p.Pro598Thr)
n.3303C>A
n.760C>A
c.4840C>A (p.Pro1614Thr)
n.2837C>A
c.2208C>A
c.2122C>A
n.1506C>A
c.2182C>A (p.Pro728Thr)
c.2341C>A (p.Pro781Thr)
c.4471C>A (p.Pro1491Thr)
c.4591C>A (p.Pro1531Thr)
c.3670C>A (p.Pro1224Thr)
c.3490C>A (p.Pro1164Thr)
c.3250C>A (p.Pro1084Thr)
c.2869C>A (p.Pro957Thr)
c.1732C>A (p.Pro578Thr)
c.4801C>A (p.Pro1601Thr)
c.4702C>A (p.Pro1568Thr)
c.4672C>A (p.Pro1558Thr)
c.4642C>A (p.Pro1548Thr)
c.4513C>A (p.Pro1505Thr)
c.4492C>A (p.Pro1498Thr)
n.4787C>A
dbSNP
6g.157201065C>GCA366241785ARID1Bc.4681C>G (p.Pro1561Ala)
c.4750C>G (p.Pro1584Ala)
c.4969C>G (p.Pro1657Ala)
c.4720C>G (p.Pro1574Ala)
c.4432C>G (p.Pro1478Ala)
c.2998C>G (p.Pro1000Ala)
c.2161C>G (p.Pro721Ala)
c.1792C>G (p.Pro598Ala)
n.3303C>G
n.760C>G
c.4840C>G (p.Pro1614Ala)
n.2837C>G
c.2208C>G
c.2122C>G
n.1506C>G
c.2182C>G (p.Pro728Ala)
c.2341C>G (p.Pro781Ala)
c.4471C>G (p.Pro1491Ala)
c.4591C>G (p.Pro1531Ala)
c.3670C>G (p.Pro1224Ala)
c.3490C>G (p.Pro1164Ala)
c.3250C>G (p.Pro1084Ala)
c.2869C>G (p.Pro957Ala)
c.1732C>G (p.Pro578Ala)
c.4801C>G (p.Pro1601Ala)
c.4702C>G (p.Pro1568Ala)
c.4672C>G (p.Pro1558Ala)
c.4642C>G (p.Pro1548Ala)
c.4513C>G (p.Pro1505Ala)
c.4492C>G (p.Pro1498Ala)
n.4787C>G
6g.157201065C>TCA366241788ARID1Bc.4681C>T (p.Pro1561Ser)
c.4750C>T (p.Pro1584Ser)
c.4969C>T (p.Pro1657Ser)
c.4720C>T (p.Pro1574Ser)
c.4432C>T (p.Pro1478Ser)
c.2998C>T (p.Pro1000Ser)
c.2161C>T (p.Pro721Ser)
c.1792C>T (p.Pro598Ser)
n.3303C>T
n.760C>T
c.4840C>T (p.Pro1614Ser)
n.2837C>T
c.2208C>T
c.2122C>T
n.1506C>T
c.2182C>T (p.Pro728Ser)
c.2341C>T (p.Pro781Ser)
c.4471C>T (p.Pro1491Ser)
c.4591C>T (p.Pro1531Ser)
c.3670C>T (p.Pro1224Ser)
c.3490C>T (p.Pro1164Ser)
c.3250C>T (p.Pro1084Ser)
c.2869C>T (p.Pro957Ser)
c.1732C>T (p.Pro578Ser)
c.4801C>T (p.Pro1601Ser)
c.4702C>T (p.Pro1568Ser)
c.4672C>T (p.Pro1558Ser)
c.4642C>T (p.Pro1548Ser)
c.4513C>T (p.Pro1505Ser)
c.4492C>T (p.Pro1498Ser)
n.4787C>T
6g.157201066C>ACA366241791ARID1Bc.4682C>A (p.Pro1561Gln)
c.4751C>A (p.Pro1584Gln)
c.4970C>A (p.Pro1657Gln)
c.4721C>A (p.Pro1574Gln)
c.4433C>A (p.Pro1478Gln)
c.2999C>A (p.Pro1000Gln)
c.2162C>A (p.Pro721Gln)
c.1793C>A (p.Pro598Gln)
n.3304C>A
n.761C>A
c.4841C>A (p.Pro1614Gln)
n.2838C>A
c.2209C>A
c.2123C>A
n.1507C>A
c.2183C>A (p.Pro728Gln)
c.2342C>A (p.Pro781Gln)
c.4472C>A (p.Pro1491Gln)
c.4592C>A (p.Pro1531Gln)
c.3671C>A (p.Pro1224Gln)
c.3491C>A (p.Pro1164Gln)
c.3251C>A (p.Pro1084Gln)
c.2870C>A (p.Pro957Gln)
c.1733C>A (p.Pro578Gln)
c.4802C>A (p.Pro1601Gln)
c.4703C>A (p.Pro1568Gln)
c.4673C>A (p.Pro1558Gln)
c.4643C>A (p.Pro1548Gln)
c.4514C>A (p.Pro1505Gln)
c.4493C>A (p.Pro1498Gln)
n.4788C>A
6g.157201066C=CA1675522920ARID1Bc.4682C= (p.Pro1561=)
c.4751C= (p.Pro1584=)
c.4970C= (p.Pro1657=)
c.4721C= (p.Pro1574=)
c.4433C= (p.Pro1478=)
c.2999C= (p.Pro1000=)
c.2162C= (p.Pro721=)
c.1793C= (p.Pro598=)
n.3304C=
n.761C=
c.4841C= (p.Pro1614=)
n.2838C=
c.2209C=
c.2123C=
n.1507C=
c.2183C= (p.Pro728=)
c.2342C= (p.Pro781=)
c.4472C= (p.Pro1491=)
c.4592C= (p.Pro1531=)
c.3671C= (p.Pro1224=)
c.3491C= (p.Pro1164=)
c.3251C= (p.Pro1084=)
c.2870C= (p.Pro957=)
c.1733C= (p.Pro578=)
c.4802C= (p.Pro1601=)
c.4703C= (p.Pro1568=)
c.4673C= (p.Pro1558=)
c.4643C= (p.Pro1548=)
c.4514C= (p.Pro1505=)
c.4493C= (p.Pro1498=)
n.4788C=
6g.157201066C>GCA366241793ARID1Bc.4682C>G (p.Pro1561Arg)
c.4751C>G (p.Pro1584Arg)
c.4970C>G (p.Pro1657Arg)
c.4721C>G (p.Pro1574Arg)
c.4433C>G (p.Pro1478Arg)
c.2999C>G (p.Pro1000Arg)
c.2162C>G (p.Pro721Arg)
c.1793C>G (p.Pro598Arg)
n.3304C>G
n.761C>G
c.4841C>G (p.Pro1614Arg)
n.2838C>G
c.2209C>G
c.2123C>G
n.1507C>G
c.2183C>G (p.Pro728Arg)
c.2342C>G (p.Pro781Arg)
c.4472C>G (p.Pro1491Arg)
c.4592C>G (p.Pro1531Arg)
c.3671C>G (p.Pro1224Arg)
c.3491C>G (p.Pro1164Arg)
c.3251C>G (p.Pro1084Arg)
c.2870C>G (p.Pro957Arg)
c.1733C>G (p.Pro578Arg)
c.4802C>G (p.Pro1601Arg)
c.4703C>G (p.Pro1568Arg)
c.4673C>G (p.Pro1558Arg)
c.4643C>G (p.Pro1548Arg)
c.4514C>G (p.Pro1505Arg)
c.4493C>G (p.Pro1498Arg)
n.4788C>G
6g.157201066C>TCA4067722ARID1Bc.4682C>T (p.Pro1561Leu)
c.4751C>T (p.Pro1584Leu)
c.4970C>T (p.Pro1657Leu)
c.4721C>T (p.Pro1574Leu)
c.4433C>T (p.Pro1478Leu)
c.2999C>T (p.Pro1000Leu)
c.2162C>T (p.Pro721Leu)
c.1793C>T (p.Pro598Leu)
n.3304C>T
n.761C>T
c.4841C>T (p.Pro1614Leu)
n.2838C>T
c.2209C>T
c.2123C>T
n.1507C>T
c.2183C>T (p.Pro728Leu)
c.2342C>T (p.Pro781Leu)
c.4472C>T (p.Pro1491Leu)
c.4592C>T (p.Pro1531Leu)
c.3671C>T (p.Pro1224Leu)
c.3491C>T (p.Pro1164Leu)
c.3251C>T (p.Pro1084Leu)
c.2870C>T (p.Pro957Leu)
c.1733C>T (p.Pro578Leu)
c.4802C>T (p.Pro1601Leu)
c.4703C>T (p.Pro1568Leu)
c.4673C>T (p.Pro1558Leu)
c.4643C>T (p.Pro1548Leu)
c.4514C>T (p.Pro1505Leu)
c.4493C>T (p.Pro1498Leu)
n.4788C>T
dbSNP ExAC gnomAD v2 gnomAD v4
6g.157201067A>CCA452978415ARID1Bc.4683A>C (p.Pro1561=)
c.4752A>C (p.Pro1584=)
c.4971A>C (p.Pro1657=)
c.4722A>C (p.Pro1574=)
c.4434A>C (p.Pro1478=)
c.3000A>C (p.Pro1000=)
c.2163A>C (p.Pro721=)
c.1794A>C (p.Pro598=)
n.3305A>C
n.762A>C
c.4842A>C (p.Pro1614=)
n.2839A>C
c.2210A>C
c.2124A>C
n.1508A>C
c.2184A>C (p.Pro728=)
c.2343A>C (p.Pro781=)
c.4473A>C (p.Pro1491=)
c.4593A>C (p.Pro1531=)
c.3672A>C (p.Pro1224=)
c.3492A>C (p.Pro1164=)
c.3252A>C (p.Pro1084=)
c.2871A>C (p.Pro957=)
c.1734A>C (p.Pro578=)
c.4803A>C (p.Pro1601=)
c.4704A>C (p.Pro1568=)
c.4674A>C (p.Pro1558=)
c.4644A>C (p.Pro1548=)
c.4515A>C (p.Pro1505=)
c.4494A>C (p.Pro1498=)
n.4789A>C
6g.157201067A>GCA452978416ARID1Bc.4683A>G (p.Pro1561=)
c.4752A>G (p.Pro1584=)
c.4971A>G (p.Pro1657=)
c.4722A>G (p.Pro1574=)
c.4434A>G (p.Pro1478=)
c.3000A>G (p.Pro1000=)
c.2163A>G (p.Pro721=)
c.1794A>G (p.Pro598=)
n.3305A>G
n.762A>G
c.4842A>G (p.Pro1614=)
n.2839A>G
c.2210A>G
c.2124A>G
n.1508A>G
c.2184A>G (p.Pro728=)
c.2343A>G (p.Pro781=)
c.4473A>G (p.Pro1491=)
c.4593A>G (p.Pro1531=)
c.3672A>G (p.Pro1224=)
c.3492A>G (p.Pro1164=)
c.3252A>G (p.Pro1084=)
c.2871A>G (p.Pro957=)
c.1734A>G (p.Pro578=)
c.4803A>G (p.Pro1601=)
c.4704A>G (p.Pro1568=)
c.4674A>G (p.Pro1558=)
c.4644A>G (p.Pro1548=)
c.4515A>G (p.Pro1505=)
c.4494A>G (p.Pro1498=)
n.4789A>G
gnomAD v4
6g.157201067A>TCA452978417ARID1Bc.4683A>T (p.Pro1561=)
c.4752A>T (p.Pro1584=)
c.4971A>T (p.Pro1657=)
c.4722A>T (p.Pro1574=)
c.4434A>T (p.Pro1478=)
c.3000A>T (p.Pro1000=)
c.2163A>T (p.Pro721=)
c.1794A>T (p.Pro598=)
n.3305A>T
n.762A>T
c.4842A>T (p.Pro1614=)
n.2839A>T
c.2210A>T
c.2124A>T
n.1508A>T
c.2184A>T (p.Pro728=)
c.2343A>T (p.Pro781=)
c.4473A>T (p.Pro1491=)
c.4593A>T (p.Pro1531=)
c.3672A>T (p.Pro1224=)
c.3492A>T (p.Pro1164=)
c.3252A>T (p.Pro1084=)
c.2871A>T (p.Pro957=)
c.1734A>T (p.Pro578=)
c.4803A>T (p.Pro1601=)
c.4704A>T (p.Pro1568=)
c.4674A>T (p.Pro1558=)
c.4644A>T (p.Pro1548=)
c.4515A>T (p.Pro1505=)
c.4494A>T (p.Pro1498=)
n.4789A>T
6g.157201068G>ACA366241802ARID1Bc.4684G>A (p.Gly1562Ser)
c.4753G>A (p.Gly1585Ser)
c.4972G>A (p.Gly1658Ser)
c.4723G>A (p.Gly1575Ser)
c.4435G>A (p.Gly1479Ser)
c.3001G>A (p.Gly1001Ser)
c.2164G>A (p.Gly722Ser)
c.1795G>A (p.Gly599Ser)
n.3306G>A
n.763G>A
c.4843G>A (p.Gly1615Ser)
n.2840G>A
c.2211G>A
c.2125G>A
n.1509G>A
c.2185G>A (p.Gly729Ser)
c.2344G>A (p.Gly782Ser)
c.4474G>A (p.Gly1492Ser)
c.4594G>A (p.Gly1532Ser)
c.3673G>A (p.Gly1225Ser)
c.3493G>A (p.Gly1165Ser)
c.3253G>A (p.Gly1085Ser)
c.2872G>A (p.Gly958Ser)
c.1735G>A (p.Gly579Ser)
c.4804G>A (p.Gly1602Ser)
c.4705G>A (p.Gly1569Ser)
c.4675G>A (p.Gly1559Ser)
c.4645G>A (p.Gly1549Ser)
c.4516G>A (p.Gly1506Ser)
c.4495G>A (p.Gly1499Ser)
n.4790G>A
ClinVar dbSNP
6g.157201068G>CCA366241800ARID1Bc.4684G>C (p.Gly1562Arg)
c.4753G>C (p.Gly1585Arg)
c.4972G>C (p.Gly1658Arg)
c.4723G>C (p.Gly1575Arg)
c.4435G>C (p.Gly1479Arg)
c.3001G>C (p.Gly1001Arg)
c.2164G>C (p.Gly722Arg)
c.1795G>C (p.Gly599Arg)
n.3306G>C
n.763G>C
c.4843G>C (p.Gly1615Arg)
n.2840G>C
c.2211G>C
c.2125G>C
n.1509G>C
c.2185G>C (p.Gly729Arg)
c.2344G>C (p.Gly782Arg)
c.4474G>C (p.Gly1492Arg)
c.4594G>C (p.Gly1532Arg)
c.3673G>C (p.Gly1225Arg)
c.3493G>C (p.Gly1165Arg)
c.3253G>C (p.Gly1085Arg)
c.2872G>C (p.Gly958Arg)
c.1735G>C (p.Gly579Arg)
c.4804G>C (p.Gly1602Arg)
c.4705G>C (p.Gly1569Arg)
c.4675G>C (p.Gly1559Arg)
c.4645G>C (p.Gly1549Arg)
c.4516G>C (p.Gly1506Arg)
c.4495G>C (p.Gly1499Arg)
n.4790G>C
dbSNP
6g.157201068G=CA1675522923ARID1Bc.4684G= (p.Gly1562=)
c.4753G= (p.Gly1585=)
c.4972G= (p.Gly1658=)
c.4723G= (p.Gly1575=)
c.4435G= (p.Gly1479=)
c.3001G= (p.Gly1001=)
c.2164G= (p.Gly722=)
c.1795G= (p.Gly599=)
n.3306G=
n.763G=
c.4843G= (p.Gly1615=)
n.2840G=
c.2211G=
c.2125G=
n.1509G=
c.2185G= (p.Gly729=)
c.2344G= (p.Gly782=)
c.4474G= (p.Gly1492=)
c.4594G= (p.Gly1532=)
c.3673G= (p.Gly1225=)
c.3493G= (p.Gly1165=)
c.3253G= (p.Gly1085=)
c.2872G= (p.Gly958=)
c.1735G= (p.Gly579=)
c.4804G= (p.Gly1602=)
c.4705G= (p.Gly1569=)
c.4675G= (p.Gly1559=)
c.4645G= (p.Gly1549=)
c.4516G= (p.Gly1506=)
c.4495G= (p.Gly1499=)
n.4790G=
6g.157201068G>TCA366241798ARID1Bc.4684G>T (p.Gly1562Cys)
c.4753G>T (p.Gly1585Cys)
c.4972G>T (p.Gly1658Cys)
c.4723G>T (p.Gly1575Cys)
c.4435G>T (p.Gly1479Cys)
c.3001G>T (p.Gly1001Cys)
c.2164G>T (p.Gly722Cys)
c.1795G>T (p.Gly599Cys)
n.3306G>T
n.763G>T
c.4843G>T (p.Gly1615Cys)
n.2840G>T
c.2211G>T
c.2125G>T
n.1509G>T
c.2185G>T (p.Gly729Cys)
c.2344G>T (p.Gly782Cys)
c.4474G>T (p.Gly1492Cys)
c.4594G>T (p.Gly1532Cys)
c.3673G>T (p.Gly1225Cys)
c.3493G>T (p.Gly1165Cys)
c.3253G>T (p.Gly1085Cys)
c.2872G>T (p.Gly958Cys)
c.1735G>T (p.Gly579Cys)
c.4804G>T (p.Gly1602Cys)
c.4705G>T (p.Gly1569Cys)
c.4675G>T (p.Gly1559Cys)
c.4645G>T (p.Gly1549Cys)
c.4516G>T (p.Gly1506Cys)
c.4495G>T (p.Gly1499Cys)
n.4790G>T
6g.157201069G>ACA366241805ARID1Bc.4685G>A (p.Gly1562Asp)
c.4754G>A (p.Gly1585Asp)
c.4973G>A (p.Gly1658Asp)
c.4724G>A (p.Gly1575Asp)
c.4436G>A (p.Gly1479Asp)
c.3002G>A (p.Gly1001Asp)
c.2165G>A (p.Gly722Asp)
c.1796G>A (p.Gly599Asp)
n.3307G>A
n.764G>A
c.4844G>A (p.Gly1615Asp)
n.2841G>A
c.2212G>A
c.2126G>A
n.1510G>A
c.2186G>A (p.Gly729Asp)
c.2345G>A (p.Gly782Asp)
c.4475G>A (p.Gly1492Asp)
c.4595G>A (p.Gly1532Asp)
c.3674G>A (p.Gly1225Asp)
c.3494G>A (p.Gly1165Asp)
c.3254G>A (p.Gly1085Asp)
c.2873G>A (p.Gly958Asp)
c.1736G>A (p.Gly579Asp)
c.4805G>A (p.Gly1602Asp)
c.4706G>A (p.Gly1569Asp)
c.4676G>A (p.Gly1559Asp)
c.4646G>A (p.Gly1549Asp)
c.4517G>A (p.Gly1506Asp)
c.4496G>A (p.Gly1499Asp)
n.4791G>A
dbSNP
6g.157201069G>CCA366241808ARID1Bc.4685G>C (p.Gly1562Ala)
c.4754G>C (p.Gly1585Ala)
c.4973G>C (p.Gly1658Ala)
c.4724G>C (p.Gly1575Ala)
c.4436G>C (p.Gly1479Ala)
c.3002G>C (p.Gly1001Ala)
c.2165G>C (p.Gly722Ala)
c.1796G>C (p.Gly599Ala)
n.3307G>C
n.764G>C
c.4844G>C (p.Gly1615Ala)
n.2841G>C
c.2212G>C
c.2126G>C
n.1510G>C
c.2186G>C (p.Gly729Ala)
c.2345G>C (p.Gly782Ala)
c.4475G>C (p.Gly1492Ala)
c.4595G>C (p.Gly1532Ala)
c.3674G>C (p.Gly1225Ala)
c.3494G>C (p.Gly1165Ala)
c.3254G>C (p.Gly1085Ala)
c.2873G>C (p.Gly958Ala)
c.1736G>C (p.Gly579Ala)
c.4805G>C (p.Gly1602Ala)
c.4706G>C (p.Gly1569Ala)
c.4676G>C (p.Gly1559Ala)
c.4646G>C (p.Gly1549Ala)
c.4517G>C (p.Gly1506Ala)
c.4496G>C (p.Gly1499Ala)
n.4791G>C
dbSNP
6g.157201069G>TCA366241809ARID1Bc.4685G>T (p.Gly1562Val)
c.4754G>T (p.Gly1585Val)
c.4973G>T (p.Gly1658Val)
c.4724G>T (p.Gly1575Val)
c.4436G>T (p.Gly1479Val)
c.3002G>T (p.Gly1001Val)
c.2165G>T (p.Gly722Val)
c.1796G>T (p.Gly599Val)
n.3307G>T
n.764G>T
c.4844G>T (p.Gly1615Val)
n.2841G>T
c.2212G>T
c.2126G>T
n.1510G>T
c.2186G>T (p.Gly729Val)
c.2345G>T (p.Gly782Val)
c.4475G>T (p.Gly1492Val)
c.4595G>T (p.Gly1532Val)
c.3674G>T (p.Gly1225Val)
c.3494G>T (p.Gly1165Val)
c.3254G>T (p.Gly1085Val)
c.2873G>T (p.Gly958Val)
c.1736G>T (p.Gly579Val)
c.4805G>T (p.Gly1602Val)
c.4706G>T (p.Gly1569Val)
c.4676G>T (p.Gly1559Val)
c.4646G>T (p.Gly1549Val)
c.4517G>T (p.Gly1506Val)
c.4496G>T (p.Gly1499Val)
n.4791G>T
ClinVar gnomAD v4
6g.157201070C>ACA452978418ARID1Bc.4686C>A (p.Gly1562=)
c.4755C>A (p.Gly1585=)
c.4974C>A (p.Gly1658=)
c.4725C>A (p.Gly1575=)
c.4437C>A (p.Gly1479=)
c.3003C>A (p.Gly1001=)
c.2166C>A (p.Gly722=)
c.1797C>A (p.Gly599=)
n.3308C>A
n.765C>A
c.4845C>A (p.Gly1615=)
n.2842C>A
c.2213C>A
c.2127C>A
n.1511C>A
c.2187C>A (p.Gly729=)
c.2346C>A (p.Gly782=)
c.4476C>A (p.Gly1492=)
c.4596C>A (p.Gly1532=)
c.3675C>A (p.Gly1225=)
c.3495C>A (p.Gly1165=)
c.3255C>A (p.Gly1085=)
c.2874C>A (p.Gly958=)
c.1737C>A (p.Gly579=)
c.4806C>A (p.Gly1602=)
c.4707C>A (p.Gly1569=)
c.4677C>A (p.Gly1559=)
c.4647C>A (p.Gly1549=)
c.4518C>A (p.Gly1506=)
c.4497C>A (p.Gly1499=)
n.4792C>A
dbSNP
6g.157201070C>GCA452978419ARID1Bc.4686C>G (p.Gly1562=)
c.4755C>G (p.Gly1585=)
c.4974C>G (p.Gly1658=)
c.4725C>G (p.Gly1575=)
c.4437C>G (p.Gly1479=)
c.3003C>G (p.Gly1001=)
c.2166C>G (p.Gly722=)
c.1797C>G (p.Gly599=)
n.3308C>G
n.765C>G
c.4845C>G (p.Gly1615=)
n.2842C>G
c.2213C>G
c.2127C>G
n.1511C>G
c.2187C>G (p.Gly729=)
c.2346C>G (p.Gly782=)
c.4476C>G (p.Gly1492=)
c.4596C>G (p.Gly1532=)
c.3675C>G (p.Gly1225=)
c.3495C>G (p.Gly1165=)
c.3255C>G (p.Gly1085=)
c.2874C>G (p.Gly958=)
c.1737C>G (p.Gly579=)
c.4806C>G (p.Gly1602=)
c.4707C>G (p.Gly1569=)
c.4677C>G (p.Gly1559=)
c.4647C>G (p.Gly1549=)
c.4518C>G (p.Gly1506=)
c.4497C>G (p.Gly1499=)
n.4792C>G
6g.157201070C>TCA452978420ARID1Bc.4686C>T (p.Gly1562=)
c.4755C>T (p.Gly1585=)
c.4974C>T (p.Gly1658=)
c.4725C>T (p.Gly1575=)
c.4437C>T (p.Gly1479=)
c.3003C>T (p.Gly1001=)
c.2166C>T (p.Gly722=)
c.1797C>T (p.Gly599=)
n.3308C>T
n.765C>T
c.4845C>T (p.Gly1615=)
n.2842C>T
c.2213C>T
c.2127C>T
n.1511C>T
c.2187C>T (p.Gly729=)
c.2346C>T (p.Gly782=)
c.4476C>T (p.Gly1492=)
c.4596C>T (p.Gly1532=)
c.3675C>T (p.Gly1225=)
c.3495C>T (p.Gly1165=)
c.3255C>T (p.Gly1085=)
c.2874C>T (p.Gly958=)
c.1737C>T (p.Gly579=)
c.4806C>T (p.Gly1602=)
c.4707C>T (p.Gly1569=)
c.4677C>T (p.Gly1559=)
c.4647C>T (p.Gly1549=)
c.4518C>T (p.Gly1506=)
c.4497C>T (p.Gly1499=)
n.4792C>T
dbSNP
6g.157201071A=CA1675522927ARID1Bc.4687A= (p.Met1563=)
c.4756A= (p.Met1586=)
c.4975A= (p.Met1659=)
c.4726A= (p.Met1576=)
c.4438A= (p.Met1480=)
c.3004A= (p.Met1002=)
c.2167A= (p.Met723=)
c.1798A= (p.Met600=)
n.3309A=
n.766A=
c.4846A= (p.Met1616=)
n.2843A=
c.2214A=
c.2128A=
n.1512A=
c.2188A= (p.Met730=)
c.2347A= (p.Met783=)
c.4477A= (p.Met1493=)
c.4597A= (p.Met1533=)
c.3676A= (p.Met1226=)
c.3496A= (p.Met1166=)
c.3256A= (p.Met1086=)
c.2875A= (p.Met959=)
c.1738A= (p.Met580=)
c.4807A= (p.Met1603=)
c.4708A= (p.Met1570=)
c.4678A= (p.Met1560=)
c.4648A= (p.Met1550=)
c.4519A= (p.Met1507=)
c.4498A= (p.Met1500=)
n.4793A=
6g.157201071A>CCA366241811ARID1Bc.4687A>C (p.Met1563Leu)
c.4756A>C (p.Met1586Leu)
c.4975A>C (p.Met1659Leu)
c.4726A>C (p.Met1576Leu)
c.4438A>C (p.Met1480Leu)
c.3004A>C (p.Met1002Leu)
c.2167A>C (p.Met723Leu)
c.1798A>C (p.Met600Leu)
n.3309A>C
n.766A>C
c.4846A>C (p.Met1616Leu)
n.2843A>C
c.2214A>C
c.2128A>C
n.1512A>C
c.2188A>C (p.Met730Leu)
c.2347A>C (p.Met783Leu)
c.4477A>C (p.Met1493Leu)
c.4597A>C (p.Met1533Leu)
c.3676A>C (p.Met1226Leu)
c.3496A>C (p.Met1166Leu)
c.3256A>C (p.Met1086Leu)
c.2875A>C (p.Met959Leu)
c.1738A>C (p.Met580Leu)
c.4807A>C (p.Met1603Leu)
c.4708A>C (p.Met1570Leu)
c.4678A>C (p.Met1560Leu)
c.4648A>C (p.Met1550Leu)
c.4519A>C (p.Met1507Leu)
c.4498A>C (p.Met1500Leu)
n.4793A>C
6g.157201071A>GCA4067723ARID1Bc.4687A>G (p.Met1563Val)
c.4756A>G (p.Met1586Val)
c.4975A>G (p.Met1659Val)
c.4726A>G (p.Met1576Val)
c.4438A>G (p.Met1480Val)
c.3004A>G (p.Met1002Val)
c.2167A>G (p.Met723Val)
c.1798A>G (p.Met600Val)
n.3309A>G
n.766A>G
c.4846A>G (p.Met1616Val)
n.2843A>G
c.2214A>G
c.2128A>G
n.1512A>G
c.2188A>G (p.Met730Val)
c.2347A>G (p.Met783Val)
c.4477A>G (p.Met1493Val)
c.4597A>G (p.Met1533Val)
c.3676A>G (p.Met1226Val)
c.3496A>G (p.Met1166Val)
c.3256A>G (p.Met1086Val)
c.2875A>G (p.Met959Val)
c.1738A>G (p.Met580Val)
c.4807A>G (p.Met1603Val)
c.4708A>G (p.Met1570Val)
c.4678A>G (p.Met1560Val)
c.4648A>G (p.Met1550Val)
c.4519A>G (p.Met1507Val)
c.4498A>G (p.Met1500Val)
n.4793A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.157201071A>TCA366241815ARID1Bc.4687A>T (p.Met1563Leu)
c.4756A>T (p.Met1586Leu)
c.4975A>T (p.Met1659Leu)
c.4726A>T (p.Met1576Leu)
c.4438A>T (p.Met1480Leu)
c.3004A>T (p.Met1002Leu)
c.2167A>T (p.Met723Leu)
c.1798A>T (p.Met600Leu)
n.3309A>T
n.766A>T
c.4846A>T (p.Met1616Leu)
n.2843A>T
c.2214A>T
c.2128A>T
n.1512A>T
c.2188A>T (p.Met730Leu)
c.2347A>T (p.Met783Leu)
c.4477A>T (p.Met1493Leu)
c.4597A>T (p.Met1533Leu)
c.3676A>T (p.Met1226Leu)
c.3496A>T (p.Met1166Leu)
c.3256A>T (p.Met1086Leu)
c.2875A>T (p.Met959Leu)
c.1738A>T (p.Met580Leu)
c.4807A>T (p.Met1603Leu)
c.4708A>T (p.Met1570Leu)
c.4678A>T (p.Met1560Leu)
c.4648A>T (p.Met1550Leu)
c.4519A>T (p.Met1507Leu)
c.4498A>T (p.Met1500Leu)
n.4793A>T
6g.157201072delCA2739289477ARID1Bc.4688del (p.Met1563ArgfsTer7)
c.4757del (p.Met1586ArgfsTer7)
c.4976del (p.Met1659ArgfsTer7)
c.4727del (p.Met1576ArgfsTer7)
c.4439del (p.Met1480ArgfsTer7)
c.3005del (p.Met1002ArgfsTer7)
c.2168del (p.Met723ArgfsTer7)
c.1799del (p.Met600ArgfsTer7)
n.3310del
n.767del
c.4847del (p.Met1616ArgfsTer7)
n.2844del
c.2215del
c.2129del
n.1513del
c.2189del (p.Met730ArgfsTer7)
c.2348del (p.Met783ArgfsTer7)
c.4478del (p.Met1493ArgfsTer7)
c.4598del (p.Met1533ArgfsTer7)
c.3677del (p.Met1226ArgfsTer7)
c.3497del (p.Met1166ArgfsTer7)
c.3257del (p.Met1086ArgfsTer7)
c.2876del (p.Met959ArgfsTer7)
c.1739del (p.Met580ArgfsTer7)
c.4808del (p.Met1603ArgfsTer7)
c.4709del (p.Met1570ArgfsTer7)
c.4679del (p.Met1560ArgfsTer7)
c.4649del (p.Met1550ArgfsTer7)
c.4520del (p.Met1507ArgfsTer7)
c.4499del (p.Met1500ArgfsTer7)
n.4794del
6g.157201072T>ACA366241819ARID1Bc.4688T>A (p.Met1563Lys)
c.4757T>A (p.Met1586Lys)
c.4976T>A (p.Met1659Lys)
c.4727T>A (p.Met1576Lys)
c.4439T>A (p.Met1480Lys)
c.3005T>A (p.Met1002Lys)
c.2168T>A (p.Met723Lys)
c.1799T>A (p.Met600Lys)
n.3310T>A
n.767T>A
c.4847T>A (p.Met1616Lys)
n.2844T>A
c.2215T>A
c.2129T>A
n.1513T>A
c.2189T>A (p.Met730Lys)
c.2348T>A (p.Met783Lys)
c.4478T>A (p.Met1493Lys)
c.4598T>A (p.Met1533Lys)
c.3677T>A (p.Met1226Lys)
c.3497T>A (p.Met1166Lys)
c.3257T>A (p.Met1086Lys)
c.2876T>A (p.Met959Lys)
c.1739T>A (p.Met580Lys)
c.4808T>A (p.Met1603Lys)
c.4709T>A (p.Met1570Lys)
c.4679T>A (p.Met1560Lys)
c.4649T>A (p.Met1550Lys)
c.4520T>A (p.Met1507Lys)
c.4499T>A (p.Met1500Lys)
n.4794T>A
6g.157201072T>CCA366241820ARID1Bc.4688T>C (p.Met1563Thr)
c.4757T>C (p.Met1586Thr)
c.4976T>C (p.Met1659Thr)
c.4727T>C (p.Met1576Thr)
c.4439T>C (p.Met1480Thr)
c.3005T>C (p.Met1002Thr)
c.2168T>C (p.Met723Thr)
c.1799T>C (p.Met600Thr)
n.3310T>C
n.767T>C
c.4847T>C (p.Met1616Thr)
n.2844T>C
c.2215T>C
c.2129T>C
n.1513T>C
c.2189T>C (p.Met730Thr)
c.2348T>C (p.Met783Thr)
c.4478T>C (p.Met1493Thr)
c.4598T>C (p.Met1533Thr)
c.3677T>C (p.Met1226Thr)
c.3497T>C (p.Met1166Thr)
c.3257T>C (p.Met1086Thr)
c.2876T>C (p.Met959Thr)
c.1739T>C (p.Met580Thr)
c.4808T>C (p.Met1603Thr)
c.4709T>C (p.Met1570Thr)
c.4679T>C (p.Met1560Thr)
c.4649T>C (p.Met1550Thr)
c.4520T>C (p.Met1507Thr)
c.4499T>C (p.Met1500Thr)
n.4794T>C
dbSNP gnomAD v4
6g.157201072T>GCA366241822ARID1Bc.4688T>G (p.Met1563Arg)
c.4757T>G (p.Met1586Arg)
c.4976T>G (p.Met1659Arg)
c.4727T>G (p.Met1576Arg)
c.4439T>G (p.Met1480Arg)
c.3005T>G (p.Met1002Arg)
c.2168T>G (p.Met723Arg)
c.1799T>G (p.Met600Arg)
n.3310T>G
n.767T>G
c.4847T>G (p.Met1616Arg)
n.2844T>G
c.2215T>G
c.2129T>G
n.1513T>G
c.2189T>G (p.Met730Arg)
c.2348T>G (p.Met783Arg)
c.4478T>G (p.Met1493Arg)
c.4598T>G (p.Met1533Arg)
c.3677T>G (p.Met1226Arg)
c.3497T>G (p.Met1166Arg)
c.3257T>G (p.Met1086Arg)
c.2876T>G (p.Met959Arg)
c.1739T>G (p.Met580Arg)
c.4808T>G (p.Met1603Arg)
c.4709T>G (p.Met1570Arg)
c.4679T>G (p.Met1560Arg)
c.4649T>G (p.Met1550Arg)
c.4520T>G (p.Met1507Arg)
c.4499T>G (p.Met1500Arg)
n.4794T>G
6g.157201072T=CA1675522930ARID1Bc.4688T= (p.Met1563=)
c.4757T= (p.Met1586=)
c.4976T= (p.Met1659=)
c.4727T= (p.Met1576=)
c.4439T= (p.Met1480=)
c.3005T= (p.Met1002=)
c.2168T= (p.Met723=)
c.1799T= (p.Met600=)
n.3310T=
n.767T=
c.4847T= (p.Met1616=)
n.2844T=
c.2215T=
c.2129T=
n.1513T=
c.2189T= (p.Met730=)
c.2348T= (p.Met783=)
c.4478T= (p.Met1493=)
c.4598T= (p.Met1533=)
c.3677T= (p.Met1226=)
c.3497T= (p.Met1166=)
c.3257T= (p.Met1086=)
c.2876T= (p.Met959=)
c.1739T= (p.Met580=)
c.4808T= (p.Met1603=)
c.4709T= (p.Met1570=)
c.4679T= (p.Met1560=)
c.4649T= (p.Met1550=)
c.4520T= (p.Met1507=)
c.4499T= (p.Met1500=)
n.4794T=
6g.157201073G>ACA366241825ARID1Bc.4689G>A (p.Met1563Ile)
c.4758G>A (p.Met1586Ile)
c.4977G>A (p.Met1659Ile)
c.4728G>A (p.Met1576Ile)
c.4440G>A (p.Met1480Ile)
c.3006G>A (p.Met1002Ile)
c.2169G>A (p.Met723Ile)
c.1800G>A (p.Met600Ile)
n.3311G>A
n.768G>A
c.4848G>A (p.Met1616Ile)
n.2845G>A
c.2216G>A
c.2130G>A
n.1514G>A
c.2190G>A (p.Met730Ile)
c.2349G>A (p.Met783Ile)
c.4479G>A (p.Met1493Ile)
c.4599G>A (p.Met1533Ile)
c.3678G>A (p.Met1226Ile)
c.3498G>A (p.Met1166Ile)
c.3258G>A (p.Met1086Ile)
c.2877G>A (p.Met959Ile)
c.1740G>A (p.Met580Ile)
c.4809G>A (p.Met1603Ile)
c.4710G>A (p.Met1570Ile)
c.4680G>A (p.Met1560Ile)
c.4650G>A (p.Met1550Ile)
c.4521G>A (p.Met1507Ile)
c.4500G>A (p.Met1500Ile)
n.4795G>A
gnomAD v4
6g.157201073G>CCA366241827ARID1Bc.4689G>C (p.Met1563Ile)
c.4758G>C (p.Met1586Ile)
c.4977G>C (p.Met1659Ile)
c.4728G>C (p.Met1576Ile)
c.4440G>C (p.Met1480Ile)
c.3006G>C (p.Met1002Ile)
c.2169G>C (p.Met723Ile)
c.1800G>C (p.Met600Ile)
n.3311G>C
n.768G>C
c.4848G>C (p.Met1616Ile)
n.2845G>C
c.2216G>C
c.2130G>C
n.1514G>C
c.2190G>C (p.Met730Ile)
c.2349G>C (p.Met783Ile)
c.4479G>C (p.Met1493Ile)
c.4599G>C (p.Met1533Ile)
c.3678G>C (p.Met1226Ile)
c.3498G>C (p.Met1166Ile)
c.3258G>C (p.Met1086Ile)
c.2877G>C (p.Met959Ile)
c.1740G>C (p.Met580Ile)
c.4809G>C (p.Met1603Ile)
c.4710G>C (p.Met1570Ile)
c.4680G>C (p.Met1560Ile)
c.4650G>C (p.Met1550Ile)
c.4521G>C (p.Met1507Ile)
c.4500G>C (p.Met1500Ile)
n.4795G>C
6g.157201073G>TCA366241830ARID1Bc.4689G>T (p.Met1563Ile)
c.4758G>T (p.Met1586Ile)
c.4977G>T (p.Met1659Ile)
c.4728G>T (p.Met1576Ile)
c.4440G>T (p.Met1480Ile)
c.3006G>T (p.Met1002Ile)
c.2169G>T (p.Met723Ile)
c.1800G>T (p.Met600Ile)
n.3311G>T
n.768G>T
c.4848G>T (p.Met1616Ile)
n.2845G>T
c.2216G>T
c.2130G>T
n.1514G>T
c.2190G>T (p.Met730Ile)
c.2349G>T (p.Met783Ile)
c.4479G>T (p.Met1493Ile)
c.4599G>T (p.Met1533Ile)
c.3678G>T (p.Met1226Ile)
c.3498G>T (p.Met1166Ile)
c.3258G>T (p.Met1086Ile)
c.2877G>T (p.Met959Ile)
c.1740G>T (p.Met580Ile)
c.4809G>T (p.Met1603Ile)
c.4710G>T (p.Met1570Ile)
c.4680G>T (p.Met1560Ile)
c.4650G>T (p.Met1550Ile)
c.4521G>T (p.Met1507Ile)
c.4500G>T (p.Met1500Ile)
n.4795G>T
6g.157201074A>CCA366241838ARID1Bc.4690A>C (p.Asn1564His)
c.4759A>C (p.Asn1587His)
c.4978A>C (p.Asn1660His)
c.4729A>C (p.Asn1577His)
c.4441A>C (p.Asn1481His)
c.3007A>C (p.Asn1003His)
c.2170A>C (p.Asn724His)
c.1801A>C (p.Asn601His)
n.3312A>C
n.769A>C
c.4849A>C (p.Asn1617His)
n.2846A>C
c.2217A>C
c.2131A>C
n.1515A>C
c.2191A>C (p.Asn731His)
c.2350A>C (p.Asn784His)
c.4480A>C (p.Asn1494His)
c.4600A>C (p.Asn1534His)
c.3679A>C (p.Asn1227His)
c.3499A>C (p.Asn1167His)
c.3259A>C (p.Asn1087His)
c.2878A>C (p.Asn960His)
c.1741A>C (p.Asn581His)
c.4810A>C (p.Asn1604His)
c.4711A>C (p.Asn1571His)
c.4681A>C (p.Asn1561His)
c.4651A>C (p.Asn1551His)
c.4522A>C (p.Asn1508His)
c.4501A>C (p.Asn1501His)
n.4796A>C
6g.157201074A>GCA366241835ARID1Bc.4690A>G (p.Asn1564Asp)
c.4759A>G (p.Asn1587Asp)
c.4978A>G (p.Asn1660Asp)
c.4729A>G (p.Asn1577Asp)
c.4441A>G (p.Asn1481Asp)
c.3007A>G (p.Asn1003Asp)
c.2170A>G (p.Asn724Asp)
c.1801A>G (p.Asn601Asp)
n.3312A>G
n.769A>G
c.4849A>G (p.Asn1617Asp)
n.2846A>G
c.2217A>G
c.2131A>G
n.1515A>G
c.2191A>G (p.Asn731Asp)
c.2350A>G (p.Asn784Asp)
c.4480A>G (p.Asn1494Asp)
c.4600A>G (p.Asn1534Asp)
c.3679A>G (p.Asn1227Asp)
c.3499A>G (p.Asn1167Asp)
c.3259A>G (p.Asn1087Asp)
c.2878A>G (p.Asn960Asp)
c.1741A>G (p.Asn581Asp)
c.4810A>G (p.Asn1604Asp)
c.4711A>G (p.Asn1571Asp)
c.4681A>G (p.Asn1561Asp)
c.4651A>G (p.Asn1551Asp)
c.4522A>G (p.Asn1508Asp)
c.4501A>G (p.Asn1501Asp)
n.4796A>G
dbSNP
6g.157201074A>TCA366241833ARID1Bc.4690A>T (p.Asn1564Tyr)
c.4759A>T (p.Asn1587Tyr)
c.4978A>T (p.Asn1660Tyr)
c.4729A>T (p.Asn1577Tyr)
c.4441A>T (p.Asn1481Tyr)
c.3007A>T (p.Asn1003Tyr)
c.2170A>T (p.Asn724Tyr)
c.1801A>T (p.Asn601Tyr)
n.3312A>T
n.769A>T
c.4849A>T (p.Asn1617Tyr)
n.2846A>T
c.2217A>T
c.2131A>T
n.1515A>T
c.2191A>T (p.Asn731Tyr)
c.2350A>T (p.Asn784Tyr)
c.4480A>T (p.Asn1494Tyr)
c.4600A>T (p.Asn1534Tyr)
c.3679A>T (p.Asn1227Tyr)
c.3499A>T (p.Asn1167Tyr)
c.3259A>T (p.Asn1087Tyr)
c.2878A>T (p.Asn960Tyr)
c.1741A>T (p.Asn581Tyr)
c.4810A>T (p.Asn1604Tyr)
c.4711A>T (p.Asn1571Tyr)
c.4681A>T (p.Asn1561Tyr)
c.4651A>T (p.Asn1551Tyr)
c.4522A>T (p.Asn1508Tyr)
c.4501A>T (p.Asn1501Tyr)
n.4796A>T
dbSNP
6g.157201075A>CCA366241841ARID1Bc.4691A>C (p.Asn1564Thr)
c.4760A>C (p.Asn1587Thr)
c.4979A>C (p.Asn1660Thr)
c.4730A>C (p.Asn1577Thr)
c.4442A>C (p.Asn1481Thr)
c.3008A>C (p.Asn1003Thr)
c.2171A>C (p.Asn724Thr)
c.1802A>C (p.Asn601Thr)
n.3313A>C
n.770A>C
c.4850A>C (p.Asn1617Thr)
n.2847A>C
c.2218A>C
c.2132A>C
n.1516A>C
c.2192A>C (p.Asn731Thr)
c.2351A>C (p.Asn784Thr)
c.4481A>C (p.Asn1494Thr)
c.4601A>C (p.Asn1534Thr)
c.3680A>C (p.Asn1227Thr)
c.3500A>C (p.Asn1167Thr)
c.3260A>C (p.Asn1087Thr)
c.2879A>C (p.Asn960Thr)
c.1742A>C (p.Asn581Thr)
c.4811A>C (p.Asn1604Thr)
c.4712A>C (p.Asn1571Thr)
c.4682A>C (p.Asn1561Thr)
c.4652A>C (p.Asn1551Thr)
c.4523A>C (p.Asn1508Thr)
c.4502A>C (p.Asn1501Thr)
n.4797A>C
6g.157201075A>GCA366241845ARID1Bc.4691A>G (p.Asn1564Ser)
c.4760A>G (p.Asn1587Ser)
c.4979A>G (p.Asn1660Ser)
c.4730A>G (p.Asn1577Ser)
c.4442A>G (p.Asn1481Ser)
c.3008A>G (p.Asn1003Ser)
c.2171A>G (p.Asn724Ser)
c.1802A>G (p.Asn601Ser)
n.3313A>G
n.770A>G
c.4850A>G (p.Asn1617Ser)
n.2847A>G
c.2218A>G
c.2132A>G
n.1516A>G
c.2192A>G (p.Asn731Ser)
c.2351A>G (p.Asn784Ser)
c.4481A>G (p.Asn1494Ser)
c.4601A>G (p.Asn1534Ser)
c.3680A>G (p.Asn1227Ser)
c.3500A>G (p.Asn1167Ser)
c.3260A>G (p.Asn1087Ser)
c.2879A>G (p.Asn960Ser)
c.1742A>G (p.Asn581Ser)
c.4811A>G (p.Asn1604Ser)
c.4712A>G (p.Asn1571Ser)
c.4682A>G (p.Asn1561Ser)
c.4652A>G (p.Asn1551Ser)
c.4523A>G (p.Asn1508Ser)
c.4502A>G (p.Asn1501Ser)
n.4797A>G
gnomAD v4
6g.157201075A>TCA366241842ARID1Bc.4691A>T (p.Asn1564Ile)
c.4760A>T (p.Asn1587Ile)
c.4979A>T (p.Asn1660Ile)
c.4730A>T (p.Asn1577Ile)
c.4442A>T (p.Asn1481Ile)
c.3008A>T (p.Asn1003Ile)
c.2171A>T (p.Asn724Ile)
c.1802A>T (p.Asn601Ile)
n.3313A>T
n.770A>T
c.4850A>T (p.Asn1617Ile)
n.2847A>T
c.2218A>T
c.2132A>T
n.1516A>T
c.2192A>T (p.Asn731Ile)
c.2351A>T (p.Asn784Ile)
c.4481A>T (p.Asn1494Ile)
c.4601A>T (p.Asn1534Ile)
c.3680A>T (p.Asn1227Ile)
c.3500A>T (p.Asn1167Ile)
c.3260A>T (p.Asn1087Ile)
c.2879A>T (p.Asn960Ile)
c.1742A>T (p.Asn581Ile)
c.4811A>T (p.Asn1604Ile)
c.4712A>T (p.Asn1571Ile)
c.4682A>T (p.Asn1561Ile)
c.4652A>T (p.Asn1551Ile)
c.4523A>T (p.Asn1508Ile)
c.4502A>T (p.Asn1501Ile)
n.4797A>T
6g.157201076C>ACA366241847ARID1Bc.4692C>A (p.Asn1564Lys)
c.4761C>A (p.Asn1587Lys)
c.4980C>A (p.Asn1660Lys)
c.4731C>A (p.Asn1577Lys)
c.4443C>A (p.Asn1481Lys)
c.3009C>A (p.Asn1003Lys)
c.2172C>A (p.Asn724Lys)
c.1803C>A (p.Asn601Lys)
n.3314C>A
n.771C>A
c.4851C>A (p.Asn1617Lys)
n.2848C>A
c.2219C>A
c.2133C>A
n.1517C>A
c.2193C>A (p.Asn731Lys)
c.2352C>A (p.Asn784Lys)
c.4482C>A (p.Asn1494Lys)
c.4602C>A (p.Asn1534Lys)
c.3681C>A (p.Asn1227Lys)
c.3501C>A (p.Asn1167Lys)
c.3261C>A (p.Asn1087Lys)
c.2880C>A (p.Asn960Lys)
c.1743C>A (p.Asn581Lys)
c.4812C>A (p.Asn1604Lys)
c.4713C>A (p.Asn1571Lys)
c.4683C>A (p.Asn1561Lys)
c.4653C>A (p.Asn1551Lys)
c.4524C>A (p.Asn1508Lys)
c.4503C>A (p.Asn1501Lys)
n.4798C>A
ClinVar dbSNP
6g.157201076C>GCA366241850ARID1Bc.4692C>G (p.Asn1564Lys)
c.4761C>G (p.Asn1587Lys)
c.4980C>G (p.Asn1660Lys)
c.4731C>G (p.Asn1577Lys)
c.4443C>G (p.Asn1481Lys)
c.3009C>G (p.Asn1003Lys)
c.2172C>G (p.Asn724Lys)
c.1803C>G (p.Asn601Lys)
n.3314C>G
n.771C>G
c.4851C>G (p.Asn1617Lys)
n.2848C>G
c.2219C>G
c.2133C>G
n.1517C>G
c.2193C>G (p.Asn731Lys)
c.2352C>G (p.Asn784Lys)
c.4482C>G (p.Asn1494Lys)
c.4602C>G (p.Asn1534Lys)
c.3681C>G (p.Asn1227Lys)
c.3501C>G (p.Asn1167Lys)
c.3261C>G (p.Asn1087Lys)
c.2880C>G (p.Asn960Lys)
c.1743C>G (p.Asn581Lys)
c.4812C>G (p.Asn1604Lys)
c.4713C>G (p.Asn1571Lys)
c.4683C>G (p.Asn1561Lys)
c.4653C>G (p.Asn1551Lys)
c.4524C>G (p.Asn1508Lys)
c.4503C>G (p.Asn1501Lys)
n.4798C>G
dbSNP
6g.157201076C>TCA452978421ARID1Bc.4692C>T (p.Asn1564=)
c.4761C>T (p.Asn1587=)
c.4980C>T (p.Asn1660=)
c.4731C>T (p.Asn1577=)
c.4443C>T (p.Asn1481=)
c.3009C>T (p.Asn1003=)
c.2172C>T (p.Asn724=)
c.1803C>T (p.Asn601=)
n.3314C>T
n.771C>T
c.4851C>T (p.Asn1617=)
n.2848C>T
c.2219C>T
c.2133C>T
n.1517C>T
c.2193C>T (p.Asn731=)
c.2352C>T (p.Asn784=)
c.4482C>T (p.Asn1494=)
c.4602C>T (p.Asn1534=)
c.3681C>T (p.Asn1227=)
c.3501C>T (p.Asn1167=)
c.3261C>T (p.Asn1087=)
c.2880C>T (p.Asn960=)
c.1743C>T (p.Asn581=)
c.4812C>T (p.Asn1604=)
c.4713C>T (p.Asn1571=)
c.4683C>T (p.Asn1561=)
c.4653C>T (p.Asn1551=)
c.4524C>T (p.Asn1508=)
c.4503C>T (p.Asn1501=)
n.4798C>T
dbSNP
6g.157201077C>ACA366241854ARID1Bc.4693C>A (p.Arg1565Ser)
c.4762C>A (p.Arg1588Ser)
c.4981C>A (p.Arg1661Ser)
c.4732C>A (p.Arg1578Ser)
c.4444C>A (p.Arg1482Ser)
c.3010C>A (p.Arg1004Ser)
c.2173C>A (p.Arg725Ser)
c.1804C>A (p.Arg602Ser)
n.3315C>A
n.772C>A
c.4852C>A (p.Arg1618Ser)
n.2849C>A
c.2220C>A
c.2134C>A
n.1518C>A
c.2194C>A (p.Arg732Ser)
c.2353C>A (p.Arg785Ser)
c.4483C>A (p.Arg1495Ser)
c.4603C>A (p.Arg1535Ser)
c.3682C>A (p.Arg1228Ser)
c.3502C>A (p.Arg1168Ser)
c.3262C>A (p.Arg1088Ser)
c.2881C>A (p.Arg961Ser)
c.1744C>A (p.Arg582Ser)
c.4813C>A (p.Arg1605Ser)
c.4714C>A (p.Arg1572Ser)
c.4684C>A (p.Arg1562Ser)
c.4654C>A (p.Arg1552Ser)
c.4525C>A (p.Arg1509Ser)
c.4504C>A (p.Arg1502Ser)
n.4799C>A
dbSNP
6g.157201077C>GCA366241856ARID1Bc.4693C>G (p.Arg1565Gly)
c.4762C>G (p.Arg1588Gly)
c.4981C>G (p.Arg1661Gly)
c.4732C>G (p.Arg1578Gly)
c.4444C>G (p.Arg1482Gly)
c.3010C>G (p.Arg1004Gly)
c.2173C>G (p.Arg725Gly)
c.1804C>G (p.Arg602Gly)
n.3315C>G
n.772C>G
c.4852C>G (p.Arg1618Gly)
n.2849C>G
c.2220C>G
c.2134C>G
n.1518C>G
c.2194C>G (p.Arg732Gly)
c.2353C>G (p.Arg785Gly)
c.4483C>G (p.Arg1495Gly)
c.4603C>G (p.Arg1535Gly)
c.3682C>G (p.Arg1228Gly)
c.3502C>G (p.Arg1168Gly)
c.3262C>G (p.Arg1088Gly)
c.2881C>G (p.Arg961Gly)
c.1744C>G (p.Arg582Gly)
c.4813C>G (p.Arg1605Gly)
c.4714C>G (p.Arg1572Gly)
c.4684C>G (p.Arg1562Gly)
c.4654C>G (p.Arg1552Gly)
c.4525C>G (p.Arg1509Gly)
c.4504C>G (p.Arg1502Gly)
n.4799C>G
6g.157201077C>TCA366241859ARID1Bc.4693C>T (p.Arg1565Cys)
c.4762C>T (p.Arg1588Cys)
c.4981C>T (p.Arg1661Cys)
c.4732C>T (p.Arg1578Cys)
c.4444C>T (p.Arg1482Cys)
c.3010C>T (p.Arg1004Cys)
c.2173C>T (p.Arg725Cys)
c.1804C>T (p.Arg602Cys)
n.3315C>T
n.772C>T
c.4852C>T (p.Arg1618Cys)
n.2849C>T
c.2220C>T
c.2134C>T
n.1518C>T
c.2194C>T (p.Arg732Cys)
c.2353C>T (p.Arg785Cys)
c.4483C>T (p.Arg1495Cys)
c.4603C>T (p.Arg1535Cys)
c.3682C>T (p.Arg1228Cys)
c.3502C>T (p.Arg1168Cys)
c.3262C>T (p.Arg1088Cys)
c.2881C>T (p.Arg961Cys)
c.1744C>T (p.Arg582Cys)
c.4813C>T (p.Arg1605Cys)
c.4714C>T (p.Arg1572Cys)
c.4684C>T (p.Arg1562Cys)
c.4654C>T (p.Arg1552Cys)
c.4525C>T (p.Arg1509Cys)
c.4504C>T (p.Arg1502Cys)
n.4799C>T
ClinVar dbSNP gnomAD v4 COSMIC COSMIC
6g.157201078G>ACA366241862ARID1Bc.4694G>A (p.Arg1565His)
c.4763G>A (p.Arg1588His)
c.4982G>A (p.Arg1661His)
c.4733G>A (p.Arg1578His)
c.4445G>A (p.Arg1482His)
c.3011G>A (p.Arg1004His)
c.2174G>A (p.Arg725His)
c.1805G>A (p.Arg602His)
n.3316G>A
n.773G>A
c.4853G>A (p.Arg1618His)
n.2850G>A
c.2221G>A
c.2135G>A
n.1519G>A
c.2195G>A (p.Arg732His)
c.2354G>A (p.Arg785His)
c.4484G>A (p.Arg1495His)
c.4604G>A (p.Arg1535His)
c.3683G>A (p.Arg1228His)
c.3503G>A (p.Arg1168His)
c.3263G>A (p.Arg1088His)
c.2882G>A (p.Arg961His)
c.1745G>A (p.Arg582His)
c.4814G>A (p.Arg1605His)
c.4715G>A (p.Arg1572His)
c.4685G>A (p.Arg1562His)
c.4655G>A (p.Arg1552His)
c.4526G>A (p.Arg1509His)
c.4505G>A (p.Arg1502His)
n.4800G>A
ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
6g.157201078G>CCA366241864ARID1Bc.4694G>C (p.Arg1565Pro)
c.4763G>C (p.Arg1588Pro)
c.4982G>C (p.Arg1661Pro)
c.4733G>C (p.Arg1578Pro)
c.4445G>C (p.Arg1482Pro)
c.3011G>C (p.Arg1004Pro)
c.2174G>C (p.Arg725Pro)
c.1805G>C (p.Arg602Pro)
n.3316G>C
n.773G>C
c.4853G>C (p.Arg1618Pro)
n.2850G>C
c.2221G>C
c.2135G>C
n.1519G>C
c.2195G>C (p.Arg732Pro)
c.2354G>C (p.Arg785Pro)
c.4484G>C (p.Arg1495Pro)
c.4604G>C (p.Arg1535Pro)
c.3683G>C (p.Arg1228Pro)
c.3503G>C (p.Arg1168Pro)
c.3263G>C (p.Arg1088Pro)
c.2882G>C (p.Arg961Pro)
c.1745G>C (p.Arg582Pro)
c.4814G>C (p.Arg1605Pro)
c.4715G>C (p.Arg1572Pro)
c.4685G>C (p.Arg1562Pro)
c.4655G>C (p.Arg1552Pro)
c.4526G>C (p.Arg1509Pro)
c.4505G>C (p.Arg1502Pro)
n.4800G>C
dbSNP
6g.157201078G=CA1675522932ARID1Bc.4694G= (p.Arg1565=)
c.4763G= (p.Arg1588=)
c.4982G= (p.Arg1661=)
c.4733G= (p.Arg1578=)
c.4445G= (p.Arg1482=)
c.3011G= (p.Arg1004=)
c.2174G= (p.Arg725=)
c.1805G= (p.Arg602=)
n.3316G=
n.773G=
c.4853G= (p.Arg1618=)
n.2850G=
c.2221G=
c.2135G=
n.1519G=
c.2195G= (p.Arg732=)
c.2354G= (p.Arg785=)
c.4484G= (p.Arg1495=)
c.4604G= (p.Arg1535=)
c.3683G= (p.Arg1228=)
c.3503G= (p.Arg1168=)
c.3263G= (p.Arg1088=)
c.2882G= (p.Arg961=)
c.1745G= (p.Arg582=)
c.4814G= (p.Arg1605=)
c.4715G= (p.Arg1572=)
c.4685G= (p.Arg1562=)
c.4655G= (p.Arg1552=)
c.4526G= (p.Arg1509=)
c.4505G= (p.Arg1502=)
n.4800G=
6g.157201078G>TCA366241867ARID1Bc.4694G>T (p.Arg1565Leu)
c.4763G>T (p.Arg1588Leu)
c.4982G>T (p.Arg1661Leu)
c.4733G>T (p.Arg1578Leu)
c.4445G>T (p.Arg1482Leu)
c.3011G>T (p.Arg1004Leu)
c.2174G>T (p.Arg725Leu)
c.1805G>T (p.Arg602Leu)
n.3316G>T
n.773G>T
c.4853G>T (p.Arg1618Leu)
n.2850G>T
c.2221G>T
c.2135G>T
n.1519G>T
c.2195G>T (p.Arg732Leu)
c.2354G>T (p.Arg785Leu)
c.4484G>T (p.Arg1495Leu)
c.4604G>T (p.Arg1535Leu)
c.3683G>T (p.Arg1228Leu)
c.3503G>T (p.Arg1168Leu)
c.3263G>T (p.Arg1088Leu)
c.2882G>T (p.Arg961Leu)
c.1745G>T (p.Arg582Leu)
c.4814G>T (p.Arg1605Leu)
c.4715G>T (p.Arg1572Leu)
c.4685G>T (p.Arg1562Leu)
c.4655G>T (p.Arg1552Leu)
c.4526G>T (p.Arg1509Leu)
c.4505G>T (p.Arg1502Leu)
n.4800G>T
dbSNP
6g.157201079C>ACA452978422ARID1Bc.4695C>A (p.Arg1565=)
c.4764C>A (p.Arg1588=)
c.4983C>A (p.Arg1661=)
c.4734C>A (p.Arg1578=)
c.4446C>A (p.Arg1482=)
c.3012C>A (p.Arg1004=)
c.2175C>A (p.Arg725=)
c.1806C>A (p.Arg602=)
n.3317C>A
n.774C>A
c.4854C>A (p.Arg1618=)
n.2851C>A
c.2222C>A
c.2136C>A
n.1520C>A
c.2196C>A (p.Arg732=)
c.2355C>A (p.Arg785=)
c.4485C>A (p.Arg1495=)
c.4605C>A (p.Arg1535=)
c.3684C>A (p.Arg1228=)
c.3504C>A (p.Arg1168=)
c.3264C>A (p.Arg1088=)
c.2883C>A (p.Arg961=)
c.1746C>A (p.Arg582=)
c.4815C>A (p.Arg1605=)
c.4716C>A (p.Arg1572=)
c.4686C>A (p.Arg1562=)
c.4656C>A (p.Arg1552=)
c.4527C>A (p.Arg1509=)
c.4506C>A (p.Arg1502=)
n.4801C>A
6g.157201079C>GCA452978423ARID1Bc.4695C>G (p.Arg1565=)
c.4764C>G (p.Arg1588=)
c.4983C>G (p.Arg1661=)
c.4734C>G (p.Arg1578=)
c.4446C>G (p.Arg1482=)
c.3012C>G (p.Arg1004=)
c.2175C>G (p.Arg725=)
c.1806C>G (p.Arg602=)
n.3317C>G
n.774C>G
c.4854C>G (p.Arg1618=)
n.2851C>G
c.2222C>G
c.2136C>G
n.1520C>G
c.2196C>G (p.Arg732=)
c.2355C>G (p.Arg785=)
c.4485C>G (p.Arg1495=)
c.4605C>G (p.Arg1535=)
c.3684C>G (p.Arg1228=)
c.3504C>G (p.Arg1168=)
c.3264C>G (p.Arg1088=)
c.2883C>G (p.Arg961=)
c.1746C>G (p.Arg582=)
c.4815C>G (p.Arg1605=)
c.4716C>G (p.Arg1572=)
c.4686C>G (p.Arg1562=)
c.4656C>G (p.Arg1552=)
c.4527C>G (p.Arg1509=)
c.4506C>G (p.Arg1502=)
n.4801C>G
6g.157201079C>TCA452978424ARID1Bc.4695C>T (p.Arg1565=)
c.4764C>T (p.Arg1588=)
c.4983C>T (p.Arg1661=)
c.4734C>T (p.Arg1578=)
c.4446C>T (p.Arg1482=)
c.3012C>T (p.Arg1004=)
c.2175C>T (p.Arg725=)
c.1806C>T (p.Arg602=)
n.3317C>T
n.774C>T
c.4854C>T (p.Arg1618=)
n.2851C>T
c.2222C>T
c.2136C>T
n.1520C>T
c.2196C>T (p.Arg732=)
c.2355C>T (p.Arg785=)
c.4485C>T (p.Arg1495=)
c.4605C>T (p.Arg1535=)
c.3684C>T (p.Arg1228=)
c.3504C>T (p.Arg1168=)
c.3264C>T (p.Arg1088=)
c.2883C>T (p.Arg961=)
c.1746C>T (p.Arg582=)
c.4815C>T (p.Arg1605=)
c.4716C>T (p.Arg1572=)
c.4686C>T (p.Arg1562=)
c.4656C>T (p.Arg1552=)
c.4527C>T (p.Arg1509=)
c.4506C>T (p.Arg1502=)
n.4801C>T
6g.157201080A>CCA366241872ARID1Bc.4696A>C (p.Thr1566Pro)
c.4765A>C (p.Thr1589Pro)
c.4984A>C (p.Thr1662Pro)
c.4735A>C (p.Thr1579Pro)
c.4447A>C (p.Thr1483Pro)
c.3013A>C (p.Thr1005Pro)
c.2176A>C (p.Thr726Pro)
c.1807A>C (p.Thr603Pro)
n.3318A>C
n.775A>C
c.4855A>C (p.Thr1619Pro)
n.2852A>C
c.2223A>C
c.2137A>C
n.1521A>C
c.2197A>C (p.Thr733Pro)
c.2356A>C (p.Thr786Pro)
c.4486A>C (p.Thr1496Pro)
c.4606A>C (p.Thr1536Pro)
c.3685A>C (p.Thr1229Pro)
c.3505A>C (p.Thr1169Pro)
c.3265A>C (p.Thr1089Pro)
c.2884A>C (p.Thr962Pro)
c.1747A>C (p.Thr583Pro)
c.4816A>C (p.Thr1606Pro)
c.4717A>C (p.Thr1573Pro)
c.4687A>C (p.Thr1563Pro)
c.4657A>C (p.Thr1553Pro)
c.4528A>C (p.Thr1510Pro)
c.4507A>C (p.Thr1503Pro)
n.4802A>C
6g.157201080A>GCA366241871ARID1Bc.4696A>G (p.Thr1566Ala)
c.4765A>G (p.Thr1589Ala)
c.4984A>G (p.Thr1662Ala)
c.4735A>G (p.Thr1579Ala)
c.4447A>G (p.Thr1483Ala)
c.3013A>G (p.Thr1005Ala)
c.2176A>G (p.Thr726Ala)
c.1807A>G (p.Thr603Ala)
n.3318A>G
n.775A>G
c.4855A>G (p.Thr1619Ala)
n.2852A>G
c.2223A>G
c.2137A>G
n.1521A>G
c.2197A>G (p.Thr733Ala)
c.2356A>G (p.Thr786Ala)
c.4486A>G (p.Thr1496Ala)
c.4606A>G (p.Thr1536Ala)
c.3685A>G (p.Thr1229Ala)
c.3505A>G (p.Thr1169Ala)
c.3265A>G (p.Thr1089Ala)
c.2884A>G (p.Thr962Ala)
c.1747A>G (p.Thr583Ala)
c.4816A>G (p.Thr1606Ala)
c.4717A>G (p.Thr1573Ala)
c.4687A>G (p.Thr1563Ala)
c.4657A>G (p.Thr1553Ala)
c.4528A>G (p.Thr1510Ala)
c.4507A>G (p.Thr1503Ala)
n.4802A>G
6g.157201080A>TCA366241870ARID1Bc.4696A>T (p.Thr1566Ser)
c.4765A>T (p.Thr1589Ser)
c.4984A>T (p.Thr1662Ser)
c.4735A>T (p.Thr1579Ser)
c.4447A>T (p.Thr1483Ser)
c.3013A>T (p.Thr1005Ser)
c.2176A>T (p.Thr726Ser)
c.1807A>T (p.Thr603Ser)
n.3318A>T
n.775A>T
c.4855A>T (p.Thr1619Ser)
n.2852A>T
c.2223A>T
c.2137A>T
n.1521A>T
c.2197A>T (p.Thr733Ser)
c.2356A>T (p.Thr786Ser)
c.4486A>T (p.Thr1496Ser)
c.4606A>T (p.Thr1536Ser)
c.3685A>T (p.Thr1229Ser)
c.3505A>T (p.Thr1169Ser)
c.3265A>T (p.Thr1089Ser)
c.2884A>T (p.Thr962Ser)
c.1747A>T (p.Thr583Ser)
c.4816A>T (p.Thr1606Ser)
c.4717A>T (p.Thr1573Ser)
c.4687A>T (p.Thr1563Ser)
c.4657A>T (p.Thr1553Ser)
c.4528A>T (p.Thr1510Ser)
c.4507A>T (p.Thr1503Ser)
n.4802A>T
6g.157201081C>ACA366241875ARID1Bc.4697C>A (p.Thr1566Lys)
c.4766C>A (p.Thr1589Lys)
c.4985C>A (p.Thr1662Lys)
c.4736C>A (p.Thr1579Lys)
c.4448C>A (p.Thr1483Lys)
c.3014C>A (p.Thr1005Lys)
c.2177C>A (p.Thr726Lys)
c.1808C>A (p.Thr603Lys)
n.3319C>A
n.776C>A
c.4856C>A (p.Thr1619Lys)
n.2853C>A
c.2224C>A
c.2138C>A
n.1522C>A
c.2198C>A (p.Thr733Lys)
c.2357C>A (p.Thr786Lys)
c.4487C>A (p.Thr1496Lys)
c.4607C>A (p.Thr1536Lys)
c.3686C>A (p.Thr1229Lys)
c.3506C>A (p.Thr1169Lys)
c.3266C>A (p.Thr1089Lys)
c.2885C>A (p.Thr962Lys)
c.1748C>A (p.Thr583Lys)
c.4817C>A (p.Thr1606Lys)
c.4718C>A (p.Thr1573Lys)
c.4688C>A (p.Thr1563Lys)
c.4658C>A (p.Thr1553Lys)
c.4529C>A (p.Thr1510Lys)
c.4508C>A (p.Thr1503Lys)
n.4803C>A
gnomAD v4
6g.157201081C=CA1675522937ARID1Bc.4697C= (p.Thr1566=)
c.4766C= (p.Thr1589=)
c.4985C= (p.Thr1662=)
c.4736C= (p.Thr1579=)
c.4448C= (p.Thr1483=)
c.3014C= (p.Thr1005=)
c.2177C= (p.Thr726=)
c.1808C= (p.Thr603=)
n.3319C=
n.776C=
c.4856C= (p.Thr1619=)
n.2853C=
c.2224C=
c.2138C=
n.1522C=
c.2198C= (p.Thr733=)
c.2357C= (p.Thr786=)
c.4487C= (p.Thr1496=)
c.4607C= (p.Thr1536=)
c.3686C= (p.Thr1229=)
c.3506C= (p.Thr1169=)
c.3266C= (p.Thr1089=)
c.2885C= (p.Thr962=)
c.1748C= (p.Thr583=)
c.4817C= (p.Thr1606=)
c.4718C= (p.Thr1573=)
c.4688C= (p.Thr1563=)
c.4658C= (p.Thr1553=)
c.4529C= (p.Thr1510=)
c.4508C= (p.Thr1503=)
n.4803C=
6g.157201081C>GCA366241878ARID1Bc.4697C>G (p.Thr1566Arg)
c.4766C>G (p.Thr1589Arg)
c.4985C>G (p.Thr1662Arg)
c.4736C>G (p.Thr1579Arg)
c.4448C>G (p.Thr1483Arg)
c.3014C>G (p.Thr1005Arg)
c.2177C>G (p.Thr726Arg)
c.1808C>G (p.Thr603Arg)
n.3319C>G
n.776C>G
c.4856C>G (p.Thr1619Arg)
n.2853C>G
c.2224C>G
c.2138C>G
n.1522C>G
c.2198C>G (p.Thr733Arg)
c.2357C>G (p.Thr786Arg)
c.4487C>G (p.Thr1496Arg)
c.4607C>G (p.Thr1536Arg)
c.3686C>G (p.Thr1229Arg)
c.3506C>G (p.Thr1169Arg)
c.3266C>G (p.Thr1089Arg)
c.2885C>G (p.Thr962Arg)
c.1748C>G (p.Thr583Arg)
c.4817C>G (p.Thr1606Arg)
c.4718C>G (p.Thr1573Arg)
c.4688C>G (p.Thr1563Arg)
c.4658C>G (p.Thr1553Arg)
c.4529C>G (p.Thr1510Arg)
c.4508C>G (p.Thr1503Arg)
n.4803C>G
6g.157201081C>TCA150370191ARID1Bc.4697C>T (p.Thr1566Ile)
c.4766C>T (p.Thr1589Ile)
c.4985C>T (p.Thr1662Ile)
c.4736C>T (p.Thr1579Ile)
c.4448C>T (p.Thr1483Ile)
c.3014C>T (p.Thr1005Ile)
c.2177C>T (p.Thr726Ile)
c.1808C>T (p.Thr603Ile)
n.3319C>T
n.776C>T
c.4856C>T (p.Thr1619Ile)
n.2853C>T
c.2224C>T
c.2138C>T
n.1522C>T
c.2198C>T (p.Thr733Ile)
c.2357C>T (p.Thr786Ile)
c.4487C>T (p.Thr1496Ile)
c.4607C>T (p.Thr1536Ile)
c.3686C>T (p.Thr1229Ile)
c.3506C>T (p.Thr1169Ile)
c.3266C>T (p.Thr1089Ile)
c.2885C>T (p.Thr962Ile)
c.1748C>T (p.Thr583Ile)
c.4817C>T (p.Thr1606Ile)
c.4718C>T (p.Thr1573Ile)
c.4688C>T (p.Thr1563Ile)
c.4658C>T (p.Thr1553Ile)
c.4529C>T (p.Thr1510Ile)
c.4508C>T (p.Thr1503Ile)
n.4803C>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.157201082A>CCA452978425ARID1Bc.4698A>C (p.Thr1566=)
c.4767A>C (p.Thr1589=)
c.4986A>C (p.Thr1662=)
c.4737A>C (p.Thr1579=)
c.4449A>C (p.Thr1483=)
c.3015A>C (p.Thr1005=)
c.2178A>C (p.Thr726=)
c.1809A>C (p.Thr603=)
n.3320A>C
n.777A>C
c.4857A>C (p.Thr1619=)
n.2854A>C
c.2225A>C
c.2139A>C
n.1523A>C
c.2199A>C (p.Thr733=)
c.2358A>C (p.Thr786=)
c.4488A>C (p.Thr1496=)
c.4608A>C (p.Thr1536=)
c.3687A>C (p.Thr1229=)
c.3507A>C (p.Thr1169=)
c.3267A>C (p.Thr1089=)
c.2886A>C (p.Thr962=)
c.1749A>C (p.Thr583=)
c.4818A>C (p.Thr1606=)
c.4719A>C (p.Thr1573=)
c.4689A>C (p.Thr1563=)
c.4659A>C (p.Thr1553=)
c.4530A>C (p.Thr1510=)
c.4509A>C (p.Thr1503=)
n.4804A>C
6g.157201082A>GCA452978426ARID1Bc.4698A>G (p.Thr1566=)
c.4767A>G (p.Thr1589=)
c.4986A>G (p.Thr1662=)
c.4737A>G (p.Thr1579=)
c.4449A>G (p.Thr1483=)
c.3015A>G (p.Thr1005=)
c.2178A>G (p.Thr726=)
c.1809A>G (p.Thr603=)
n.3320A>G
n.777A>G
c.4857A>G (p.Thr1619=)
n.2854A>G
c.2225A>G
c.2139A>G
n.1523A>G
c.2199A>G (p.Thr733=)
c.2358A>G (p.Thr786=)
c.4488A>G (p.Thr1496=)
c.4608A>G (p.Thr1536=)
c.3687A>G (p.Thr1229=)
c.3507A>G (p.Thr1169=)
c.3267A>G (p.Thr1089=)
c.2886A>G (p.Thr962=)
c.1749A>G (p.Thr583=)
c.4818A>G (p.Thr1606=)
c.4719A>G (p.Thr1573=)
c.4689A>G (p.Thr1563=)
c.4659A>G (p.Thr1553=)
c.4530A>G (p.Thr1510=)
c.4509A>G (p.Thr1503=)
n.4804A>G
dbSNP
6g.157201082A>TCA452978427ARID1Bc.4698A>T (p.Thr1566=)
c.4767A>T (p.Thr1589=)
c.4986A>T (p.Thr1662=)
c.4737A>T (p.Thr1579=)
c.4449A>T (p.Thr1483=)
c.3015A>T (p.Thr1005=)
c.2178A>T (p.Thr726=)
c.1809A>T (p.Thr603=)
n.3320A>T
n.777A>T
c.4857A>T (p.Thr1619=)
n.2854A>T
c.2225A>T
c.2139A>T
n.1523A>T
c.2199A>T (p.Thr733=)
c.2358A>T (p.Thr786=)
c.4488A>T (p.Thr1496=)
c.4608A>T (p.Thr1536=)
c.3687A>T (p.Thr1229=)
c.3507A>T (p.Thr1169=)
c.3267A>T (p.Thr1089=)
c.2886A>T (p.Thr962=)
c.1749A>T (p.Thr583=)
c.4818A>T (p.Thr1606=)
c.4719A>T (p.Thr1573=)
c.4689A>T (p.Thr1563=)
c.4659A>T (p.Thr1553=)
c.4530A>T (p.Thr1510=)
c.4509A>T (p.Thr1503=)
n.4804A>T
6g.157201083G>ACA366241882ARID1Bc.4699G>A (p.Asp1567Asn)
c.4768G>A (p.Asp1590Asn)
c.4987G>A (p.Asp1663Asn)
c.4738G>A (p.Asp1580Asn)
c.4450G>A (p.Asp1484Asn)
c.3016G>A (p.Asp1006Asn)
c.2179G>A (p.Asp727Asn)
c.1810G>A (p.Asp604Asn)
n.3321G>A
n.778G>A
c.4858G>A (p.Asp1620Asn)
n.2855G>A
c.2226G>A
c.2140G>A
n.1524G>A
c.2200G>A (p.Asp734Asn)
c.2359G>A (p.Asp787Asn)
c.4489G>A (p.Asp1497Asn)
c.4609G>A (p.Asp1537Asn)
c.3688G>A (p.Asp1230Asn)
c.3508G>A (p.Asp1170Asn)
c.3268G>A (p.Asp1090Asn)
c.2887G>A (p.Asp963Asn)
c.1750G>A (p.Asp584Asn)
c.4819G>A (p.Asp1607Asn)
c.4720G>A (p.Asp1574Asn)
c.4690G>A (p.Asp1564Asn)
c.4660G>A (p.Asp1554Asn)
c.4531G>A (p.Asp1511Asn)
c.4510G>A (p.Asp1504Asn)
n.4805G>A
dbSNP
6g.157201083G>CCA366241885ARID1Bc.4699G>C (p.Asp1567His)
c.4768G>C (p.Asp1590His)
c.4987G>C (p.Asp1663His)
c.4738G>C (p.Asp1580His)
c.4450G>C (p.Asp1484His)
c.3016G>C (p.Asp1006His)
c.2179G>C (p.Asp727His)
c.1810G>C (p.Asp604His)
n.3321G>C
n.778G>C
c.4858G>C (p.Asp1620His)
n.2855G>C
c.2226G>C
c.2140G>C
n.1524G>C
c.2200G>C (p.Asp734His)
c.2359G>C (p.Asp787His)
c.4489G>C (p.Asp1497His)
c.4609G>C (p.Asp1537His)
c.3688G>C (p.Asp1230His)
c.3508G>C (p.Asp1170His)
c.3268G>C (p.Asp1090His)
c.2887G>C (p.Asp963His)
c.1750G>C (p.Asp584His)
c.4819G>C (p.Asp1607His)
c.4720G>C (p.Asp1574His)
c.4690G>C (p.Asp1564His)
c.4660G>C (p.Asp1554His)
c.4531G>C (p.Asp1511His)
c.4510G>C (p.Asp1504His)
n.4805G>C
dbSNP
6g.157201083G=CA1675522944ARID1Bc.4699G= (p.Asp1567=)
c.4768G= (p.Asp1590=)
c.4987G= (p.Asp1663=)
c.4738G= (p.Asp1580=)
c.4450G= (p.Asp1484=)
c.3016G= (p.Asp1006=)
c.2179G= (p.Asp727=)
c.1810G= (p.Asp604=)
n.3321G=
n.778G=
c.4858G= (p.Asp1620=)
n.2855G=
c.2226G=
c.2140G=
n.1524G=
c.2200G= (p.Asp734=)
c.2359G= (p.Asp787=)
c.4489G= (p.Asp1497=)
c.4609G= (p.Asp1537=)
c.3688G= (p.Asp1230=)
c.3508G= (p.Asp1170=)
c.3268G= (p.Asp1090=)
c.2887G= (p.Asp963=)
c.1750G= (p.Asp584=)
c.4819G= (p.Asp1607=)
c.4720G= (p.Asp1574=)
c.4690G= (p.Asp1564=)
c.4660G= (p.Asp1554=)
c.4531G= (p.Asp1511=)
c.4510G= (p.Asp1504=)
n.4805G=
6g.157201083G>TCA366241887ARID1Bc.4699G>T (p.Asp1567Tyr)
c.4768G>T (p.Asp1590Tyr)
c.4987G>T (p.Asp1663Tyr)
c.4738G>T (p.Asp1580Tyr)
c.4450G>T (p.Asp1484Tyr)
c.3016G>T (p.Asp1006Tyr)
c.2179G>T (p.Asp727Tyr)
c.1810G>T (p.Asp604Tyr)
n.3321G>T
n.778G>T
c.4858G>T (p.Asp1620Tyr)
n.2855G>T
c.2226G>T
c.2140G>T
n.1524G>T
c.2200G>T (p.Asp734Tyr)
c.2359G>T (p.Asp787Tyr)
c.4489G>T (p.Asp1497Tyr)
c.4609G>T (p.Asp1537Tyr)
c.3688G>T (p.Asp1230Tyr)
c.3508G>T (p.Asp1170Tyr)
c.3268G>T (p.Asp1090Tyr)
c.2887G>T (p.Asp963Tyr)
c.1750G>T (p.Asp584Tyr)
c.4819G>T (p.Asp1607Tyr)
c.4720G>T (p.Asp1574Tyr)
c.4690G>T (p.Asp1564Tyr)
c.4660G>T (p.Asp1554Tyr)
c.4531G>T (p.Asp1511Tyr)
c.4510G>T (p.Asp1504Tyr)
n.4805G>T
6g.157201085_157201092delCA645564746ARID1Bc.4701_4708del (p.Asp1568GlyfsTer9)
c.4770_4777del (p.Asp1591GlyfsTer9)
c.4989_4996del (p.Asp1664GlyfsTer9)
c.4740_4747del (p.Asp1581GlyfsTer9)
c.4452_4459del (p.Asp1485GlyfsTer9)
c.3018_3025del (p.Asp1007GlyfsTer9)
c.2181_2188del (p.Asp728GlyfsTer9)
c.1812_1819del (p.Asp605GlyfsTer9)
n.3323_3330del
n.780_787del
c.4860_4867del (p.Asp1621GlyfsTer9)
n.2857_2864del
c.2228_2235del
c.2142_2149del
n.1526_1533del
c.2202_2209del (p.Asp735GlyfsTer9)
c.2361_2368del (p.Asp788GlyfsTer9)
c.4491_4498del (p.Asp1498GlyfsTer9)
c.4611_4618del (p.Asp1538GlyfsTer9)
c.3690_3697del (p.Asp1231GlyfsTer9)
c.3510_3517del (p.Asp1171GlyfsTer9)
c.3270_3277del (p.Asp1091GlyfsTer9)
c.2889_2896del (p.Asp964GlyfsTer9)
c.1752_1759del (p.Asp585GlyfsTer9)
c.4821_4828del (p.Asp1608GlyfsTer9)
c.4722_4729del (p.Asp1575GlyfsTer9)
c.4692_4699del (p.Asp1565GlyfsTer9)
c.4662_4669del (p.Asp1555GlyfsTer9)
c.4533_4540del (p.Asp1512GlyfsTer9)
c.4512_4519del (p.Asp1505GlyfsTer9)
n.4807_4814del
COSMIC
6g.157201084A=CA1675522947ARID1Bc.4700A= (p.Asp1567=)
c.4769A= (p.Asp1590=)
c.4988A= (p.Asp1663=)
c.4739A= (p.Asp1580=)
c.4451A= (p.Asp1484=)
c.3017A= (p.Asp1006=)
c.2180A= (p.Asp727=)
c.1811A= (p.Asp604=)
n.3322A=
n.779A=
c.4859A= (p.Asp1620=)
n.2856A=
c.2227A=
c.2141A=
n.1525A=
c.2201A= (p.Asp734=)
c.2360A= (p.Asp787=)
c.4490A= (p.Asp1497=)
c.4610A= (p.Asp1537=)
c.3689A= (p.Asp1230=)
c.3509A= (p.Asp1170=)
c.3269A= (p.Asp1090=)
c.2888A= (p.Asp963=)
c.1751A= (p.Asp584=)
c.4820A= (p.Asp1607=)
c.4721A= (p.Asp1574=)
c.4691A= (p.Asp1564=)
c.4661A= (p.Asp1554=)
c.4532A= (p.Asp1511=)
c.4511A= (p.Asp1504=)
n.4806A=
6g.157201084A>CCA366241890ARID1Bc.4700A>C (p.Asp1567Ala)
c.4769A>C (p.Asp1590Ala)
c.4988A>C (p.Asp1663Ala)
c.4739A>C (p.Asp1580Ala)
c.4451A>C (p.Asp1484Ala)
c.3017A>C (p.Asp1006Ala)
c.2180A>C (p.Asp727Ala)
c.1811A>C (p.Asp604Ala)
n.3322A>C
n.779A>C
c.4859A>C (p.Asp1620Ala)
n.2856A>C
c.2227A>C
c.2141A>C
n.1525A>C
c.2201A>C (p.Asp734Ala)
c.2360A>C (p.Asp787Ala)
c.4490A>C (p.Asp1497Ala)
c.4610A>C (p.Asp1537Ala)
c.3689A>C (p.Asp1230Ala)
c.3509A>C (p.Asp1170Ala)
c.3269A>C (p.Asp1090Ala)
c.2888A>C (p.Asp963Ala)
c.1751A>C (p.Asp584Ala)
c.4820A>C (p.Asp1607Ala)
c.4721A>C (p.Asp1574Ala)
c.4691A>C (p.Asp1564Ala)
c.4661A>C (p.Asp1554Ala)
c.4532A>C (p.Asp1511Ala)
c.4511A>C (p.Asp1504Ala)
n.4806A>C
6g.157201084A>GCA366241895ARID1Bc.4700A>G (p.Asp1567Gly)
c.4769A>G (p.Asp1590Gly)
c.4988A>G (p.Asp1663Gly)
c.4739A>G (p.Asp1580Gly)
c.4451A>G (p.Asp1484Gly)
c.3017A>G (p.Asp1006Gly)
c.2180A>G (p.Asp727Gly)
c.1811A>G (p.Asp604Gly)
n.3322A>G
n.779A>G
c.4859A>G (p.Asp1620Gly)
n.2856A>G
c.2227A>G
c.2141A>G
n.1525A>G
c.2201A>G (p.Asp734Gly)
c.2360A>G (p.Asp787Gly)
c.4490A>G (p.Asp1497Gly)
c.4610A>G (p.Asp1537Gly)
c.3689A>G (p.Asp1230Gly)
c.3509A>G (p.Asp1170Gly)
c.3269A>G (p.Asp1090Gly)
c.2888A>G (p.Asp963Gly)
c.1751A>G (p.Asp584Gly)
c.4820A>G (p.Asp1607Gly)
c.4721A>G (p.Asp1574Gly)
c.4691A>G (p.Asp1564Gly)
c.4661A>G (p.Asp1554Gly)
c.4532A>G (p.Asp1511Gly)
c.4511A>G (p.Asp1504Gly)
n.4806A>G
dbSNP gnomAD v3 gnomAD v4
6g.157201084A>TCA366241893ARID1Bc.4700A>T (p.Asp1567Val)
c.4769A>T (p.Asp1590Val)
c.4988A>T (p.Asp1663Val)
c.4739A>T (p.Asp1580Val)
c.4451A>T (p.Asp1484Val)
c.3017A>T (p.Asp1006Val)
c.2180A>T (p.Asp727Val)
c.1811A>T (p.Asp604Val)
n.3322A>T
n.779A>T
c.4859A>T (p.Asp1620Val)
n.2856A>T
c.2227A>T
c.2141A>T
n.1525A>T
c.2201A>T (p.Asp734Val)
c.2360A>T (p.Asp787Val)
c.4490A>T (p.Asp1497Val)
c.4610A>T (p.Asp1537Val)
c.3689A>T (p.Asp1230Val)
c.3509A>T (p.Asp1170Val)
c.3269A>T (p.Asp1090Val)
c.2888A>T (p.Asp963Val)
c.1751A>T (p.Asp584Val)
c.4820A>T (p.Asp1607Val)
c.4721A>T (p.Asp1574Val)
c.4691A>T (p.Asp1564Val)
c.4661A>T (p.Asp1554Val)
c.4532A>T (p.Asp1511Val)
c.4511A>T (p.Asp1504Val)
n.4806A>T
6g.157201085C>ACA366241897ARID1Bc.4701C>A (p.Asp1567Glu)
c.4770C>A (p.Asp1590Glu)
c.4989C>A (p.Asp1663Glu)
c.4740C>A (p.Asp1580Glu)
c.4452C>A (p.Asp1484Glu)
c.3018C>A (p.Asp1006Glu)
c.2181C>A (p.Asp727Glu)
c.1812C>A (p.Asp604Glu)
n.3323C>A
n.780C>A
c.4860C>A (p.Asp1620Glu)
n.2857C>A
c.2228C>A
c.2142C>A
n.1526C>A
c.2202C>A (p.Asp734Glu)
c.2361C>A (p.Asp787Glu)
c.4491C>A (p.Asp1497Glu)
c.4611C>A (p.Asp1537Glu)
c.3690C>A (p.Asp1230Glu)
c.3510C>A (p.Asp1170Glu)
c.3270C>A (p.Asp1090Glu)
c.2889C>A (p.Asp963Glu)
c.1752C>A (p.Asp584Glu)
c.4821C>A (p.Asp1607Glu)
c.4722C>A (p.Asp1574Glu)
c.4692C>A (p.Asp1564Glu)
c.4662C>A (p.Asp1554Glu)
c.4533C>A (p.Asp1511Glu)
c.4512C>A (p.Asp1504Glu)
n.4807C>A
dbSNP
6g.157201085C=CA1675522951ARID1Bc.4701C= (p.Asp1567=)
c.4770C= (p.Asp1590=)
c.4989C= (p.Asp1663=)
c.4740C= (p.Asp1580=)
c.4452C= (p.Asp1484=)
c.3018C= (p.Asp1006=)
c.2181C= (p.Asp727=)
c.1812C= (p.Asp604=)
n.3323C=
n.780C=
c.4860C= (p.Asp1620=)
n.2857C=
c.2228C=
c.2142C=
n.1526C=
c.2202C= (p.Asp734=)
c.2361C= (p.Asp787=)
c.4491C= (p.Asp1497=)
c.4611C= (p.Asp1537=)
c.3690C= (p.Asp1230=)
c.3510C= (p.Asp1170=)
c.3270C= (p.Asp1090=)
c.2889C= (p.Asp963=)
c.1752C= (p.Asp584=)
c.4821C= (p.Asp1607=)
c.4722C= (p.Asp1574=)
c.4692C= (p.Asp1564=)
c.4662C= (p.Asp1554=)
c.4533C= (p.Asp1511=)
c.4512C= (p.Asp1504=)
n.4807C=
6g.157201085C>GCA366241899ARID1Bc.4701C>G (p.Asp1567Glu)
c.4770C>G (p.Asp1590Glu)
c.4989C>G (p.Asp1663Glu)
c.4740C>G (p.Asp1580Glu)
c.4452C>G (p.Asp1484Glu)
c.3018C>G (p.Asp1006Glu)
c.2181C>G (p.Asp727Glu)
c.1812C>G (p.Asp604Glu)
n.3323C>G
n.780C>G
c.4860C>G (p.Asp1620Glu)
n.2857C>G
c.2228C>G
c.2142C>G
n.1526C>G
c.2202C>G (p.Asp734Glu)
c.2361C>G (p.Asp787Glu)
c.4491C>G (p.Asp1497Glu)
c.4611C>G (p.Asp1537Glu)
c.3690C>G (p.Asp1230Glu)
c.3510C>G (p.Asp1170Glu)
c.3270C>G (p.Asp1090Glu)
c.2889C>G (p.Asp963Glu)
c.1752C>G (p.Asp584Glu)
c.4821C>G (p.Asp1607Glu)
c.4722C>G (p.Asp1574Glu)
c.4692C>G (p.Asp1564Glu)
c.4662C>G (p.Asp1554Glu)
c.4533C>G (p.Asp1511Glu)
c.4512C>G (p.Asp1504Glu)
n.4807C>G
6g.157201085C>TCA4067724ARID1Bc.4701C>T (p.Asp1567=)
c.4770C>T (p.Asp1590=)
c.4989C>T (p.Asp1663=)
c.4740C>T (p.Asp1580=)
c.4452C>T (p.Asp1484=)
c.3018C>T (p.Asp1006=)
c.2181C>T (p.Asp727=)
c.1812C>T (p.Asp604=)
n.3323C>T
n.780C>T
c.4860C>T (p.Asp1620=)
n.2857C>T
c.2228C>T
c.2142C>T
n.1526C>T
c.2202C>T (p.Asp734=)
c.2361C>T (p.Asp787=)
c.4491C>T (p.Asp1497=)
c.4611C>T (p.Asp1537=)
c.3690C>T (p.Asp1230=)
c.3510C>T (p.Asp1170=)
c.3270C>T (p.Asp1090=)
c.2889C>T (p.Asp963=)
c.1752C>T (p.Asp584=)
c.4821C>T (p.Asp1607=)
c.4722C>T (p.Asp1574=)
c.4692C>T (p.Asp1564=)
c.4662C>T (p.Asp1554=)
c.4533C>T (p.Asp1511=)
c.4512C>T (p.Asp1504=)
n.4807C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.157201086G>ACA366241903ARID1Bc.4702G>A (p.Asp1568Asn)
c.4771G>A (p.Asp1591Asn)
c.4990G>A (p.Asp1664Asn)
c.4741G>A (p.Asp1581Asn)
c.4453G>A (p.Asp1485Asn)
c.3019G>A (p.Asp1007Asn)
c.2182G>A (p.Asp728Asn)
c.1813G>A (p.Asp605Asn)
n.3324G>A
n.781G>A
c.4861G>A (p.Asp1621Asn)
n.2858G>A
c.2229G>A
c.2143G>A
n.1527G>A
c.2203G>A (p.Asp735Asn)
c.2362G>A (p.Asp788Asn)
c.4492G>A (p.Asp1498Asn)
c.4612G>A (p.Asp1538Asn)
c.3691G>A (p.Asp1231Asn)
c.3511G>A (p.Asp1171Asn)
c.3271G>A (p.Asp1091Asn)
c.2890G>A (p.Asp964Asn)
c.1753G>A (p.Asp585Asn)
c.4822G>A (p.Asp1608Asn)
c.4723G>A (p.Asp1575Asn)
c.4693G>A (p.Asp1565Asn)
c.4663G>A (p.Asp1555Asn)
c.4534G>A (p.Asp1512Asn)
c.4513G>A (p.Asp1505Asn)
n.4808G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.157201086G>CCA366241905ARID1Bc.4702G>C (p.Asp1568His)
c.4771G>C (p.Asp1591His)
c.4990G>C (p.Asp1664His)
c.4741G>C (p.Asp1581His)
c.4453G>C (p.Asp1485His)
c.3019G>C (p.Asp1007His)
c.2182G>C (p.Asp728His)
c.1813G>C (p.Asp605His)
n.3324G>C
n.781G>C
c.4861G>C (p.Asp1621His)
n.2858G>C
c.2229G>C
c.2143G>C
n.1527G>C
c.2203G>C (p.Asp735His)
c.2362G>C (p.Asp788His)
c.4492G>C (p.Asp1498His)
c.4612G>C (p.Asp1538His)
c.3691G>C (p.Asp1231His)
c.3511G>C (p.Asp1171His)
c.3271G>C (p.Asp1091His)
c.2890G>C (p.Asp964His)
c.1753G>C (p.Asp585His)
c.4822G>C (p.Asp1608His)
c.4723G>C (p.Asp1575His)
c.4693G>C (p.Asp1565His)
c.4663G>C (p.Asp1555His)
c.4534G>C (p.Asp1512His)
c.4513G>C (p.Asp1505His)
n.4808G>C
dbSNP
6g.157201086G=CA1675522953ARID1Bc.4702G= (p.Asp1568=)
c.4771G= (p.Asp1591=)
c.4990G= (p.Asp1664=)
c.4741G= (p.Asp1581=)
c.4453G= (p.Asp1485=)
c.3019G= (p.Asp1007=)
c.2182G= (p.Asp728=)
c.1813G= (p.Asp605=)
n.3324G=
n.781G=
c.4861G= (p.Asp1621=)
n.2858G=
c.2229G=
c.2143G=
n.1527G=
c.2203G= (p.Asp735=)
c.2362G= (p.Asp788=)
c.4492G= (p.Asp1498=)
c.4612G= (p.Asp1538=)
c.3691G= (p.Asp1231=)
c.3511G= (p.Asp1171=)
c.3271G= (p.Asp1091=)
c.2890G= (p.Asp964=)
c.1753G= (p.Asp585=)
c.4822G= (p.Asp1608=)
c.4723G= (p.Asp1575=)
c.4693G= (p.Asp1565=)
c.4663G= (p.Asp1555=)
c.4534G= (p.Asp1512=)
c.4513G= (p.Asp1505=)
n.4808G=
6g.157201086G>TCA366241908ARID1Bc.4702G>T (p.Asp1568Tyr)
c.4771G>T (p.Asp1591Tyr)
c.4990G>T (p.Asp1664Tyr)
c.4741G>T (p.Asp1581Tyr)
c.4453G>T (p.Asp1485Tyr)
c.3019G>T (p.Asp1007Tyr)
c.2182G>T (p.Asp728Tyr)
c.1813G>T (p.Asp605Tyr)
n.3324G>T
n.781G>T
c.4861G>T (p.Asp1621Tyr)
n.2858G>T
c.2229G>T
c.2143G>T
n.1527G>T
c.2203G>T (p.Asp735Tyr)
c.2362G>T (p.Asp788Tyr)
c.4492G>T (p.Asp1498Tyr)
c.4612G>T (p.Asp1538Tyr)
c.3691G>T (p.Asp1231Tyr)
c.3511G>T (p.Asp1171Tyr)
c.3271G>T (p.Asp1091Tyr)
c.2890G>T (p.Asp964Tyr)
c.1753G>T (p.Asp585Tyr)
c.4822G>T (p.Asp1608Tyr)
c.4723G>T (p.Asp1575Tyr)
c.4693G>T (p.Asp1565Tyr)
c.4663G>T (p.Asp1555Tyr)
c.4534G>T (p.Asp1512Tyr)
c.4513G>T (p.Asp1505Tyr)
n.4808G>T
6g.157201087A>CCA366241912ARID1Bc.4703A>C (p.Asp1568Ala)
c.4772A>C (p.Asp1591Ala)
c.4991A>C (p.Asp1664Ala)
c.4742A>C (p.Asp1581Ala)
c.4454A>C (p.Asp1485Ala)
c.3020A>C (p.Asp1007Ala)
c.2183A>C (p.Asp728Ala)
c.1814A>C (p.Asp605Ala)
n.3325A>C
n.782A>C
c.4862A>C (p.Asp1621Ala)
n.2859A>C
c.2230A>C
c.2144A>C
n.1528A>C
c.2204A>C (p.Asp735Ala)
c.2363A>C (p.Asp788Ala)
c.4493A>C (p.Asp1498Ala)
c.4613A>C (p.Asp1538Ala)
c.3692A>C (p.Asp1231Ala)
c.3512A>C (p.Asp1171Ala)
c.3272A>C (p.Asp1091Ala)
c.2891A>C (p.Asp964Ala)
c.1754A>C (p.Asp585Ala)
c.4823A>C (p.Asp1608Ala)
c.4724A>C (p.Asp1575Ala)
c.4694A>C (p.Asp1565Ala)
c.4664A>C (p.Asp1555Ala)
c.4535A>C (p.Asp1512Ala)
c.4514A>C (p.Asp1505Ala)
n.4809A>C
6g.157201087A>GCA366241914ARID1Bc.4703A>G (p.Asp1568Gly)
c.4772A>G (p.Asp1591Gly)
c.4991A>G (p.Asp1664Gly)
c.4742A>G (p.Asp1581Gly)
c.4454A>G (p.Asp1485Gly)
c.3020A>G (p.Asp1007Gly)
c.2183A>G (p.Asp728Gly)
c.1814A>G (p.Asp605Gly)
n.3325A>G
n.782A>G
c.4862A>G (p.Asp1621Gly)
n.2859A>G
c.2230A>G
c.2144A>G
n.1528A>G
c.2204A>G (p.Asp735Gly)
c.2363A>G (p.Asp788Gly)
c.4493A>G (p.Asp1498Gly)
c.4613A>G (p.Asp1538Gly)
c.3692A>G (p.Asp1231Gly)
c.3512A>G (p.Asp1171Gly)
c.3272A>G (p.Asp1091Gly)
c.2891A>G (p.Asp964Gly)
c.1754A>G (p.Asp585Gly)
c.4823A>G (p.Asp1608Gly)
c.4724A>G (p.Asp1575Gly)
c.4694A>G (p.Asp1565Gly)
c.4664A>G (p.Asp1555Gly)
c.4535A>G (p.Asp1512Gly)
c.4514A>G (p.Asp1505Gly)
n.4809A>G
6g.157201087A>TCA366241916ARID1Bc.4703A>T (p.Asp1568Val)
c.4772A>T (p.Asp1591Val)
c.4991A>T (p.Asp1664Val)
c.4742A>T (p.Asp1581Val)
c.4454A>T (p.Asp1485Val)
c.3020A>T (p.Asp1007Val)
c.2183A>T (p.Asp728Val)
c.1814A>T (p.Asp605Val)
n.3325A>T
n.782A>T
c.4862A>T (p.Asp1621Val)
n.2859A>T
c.2230A>T
c.2144A>T
n.1528A>T
c.2204A>T (p.Asp735Val)
c.2363A>T (p.Asp788Val)
c.4493A>T (p.Asp1498Val)
c.4613A>T (p.Asp1538Val)
c.3692A>T (p.Asp1231Val)
c.3512A>T (p.Asp1171Val)
c.3272A>T (p.Asp1091Val)
c.2891A>T (p.Asp964Val)
c.1754A>T (p.Asp585Val)
c.4823A>T (p.Asp1608Val)
c.4724A>T (p.Asp1575Val)
c.4694A>T (p.Asp1565Val)
c.4664A>T (p.Asp1555Val)
c.4535A>T (p.Asp1512Val)
c.4514A>T (p.Asp1505Val)
n.4809A>T
6g.157201088T>ACA366241919ARID1Bc.4704T>A (p.Asp1568Glu)
c.4773T>A (p.Asp1591Glu)
c.4992T>A (p.Asp1664Glu)
c.4743T>A (p.Asp1581Glu)
c.4455T>A (p.Asp1485Glu)
c.3021T>A (p.Asp1007Glu)
c.2184T>A (p.Asp728Glu)
c.1815T>A (p.Asp605Glu)
n.3326T>A
n.783T>A
c.4863T>A (p.Asp1621Glu)
n.2860T>A
c.2231T>A
c.2145T>A
n.1529T>A
c.2205T>A (p.Asp735Glu)
c.2364T>A (p.Asp788Glu)
c.4494T>A (p.Asp1498Glu)
c.4614T>A (p.Asp1538Glu)
c.3693T>A (p.Asp1231Glu)
c.3513T>A (p.Asp1171Glu)
c.3273T>A (p.Asp1091Glu)
c.2892T>A (p.Asp964Glu)
c.1755T>A (p.Asp585Glu)
c.4824T>A (p.Asp1608Glu)
c.4725T>A (p.Asp1575Glu)
c.4695T>A (p.Asp1565Glu)
c.4665T>A (p.Asp1555Glu)
c.4536T>A (p.Asp1512Glu)
c.4515T>A (p.Asp1505Glu)
n.4810T>A
dbSNP
6g.157201088T>CCA452978428ARID1Bc.4704T>C (p.Asp1568=)
c.4773T>C (p.Asp1591=)
c.4992T>C (p.Asp1664=)
c.4743T>C (p.Asp1581=)
c.4455T>C (p.Asp1485=)
c.3021T>C (p.Asp1007=)
c.2184T>C (p.Asp728=)
c.1815T>C (p.Asp605=)
n.3326T>C
n.783T>C
c.4863T>C (p.Asp1621=)
n.2860T>C
c.2231T>C
c.2145T>C
n.1529T>C
c.2205T>C (p.Asp735=)
c.2364T>C (p.Asp788=)
c.4494T>C (p.Asp1498=)
c.4614T>C (p.Asp1538=)
c.3693T>C (p.Asp1231=)
c.3513T>C (p.Asp1171=)
c.3273T>C (p.Asp1091=)
c.2892T>C (p.Asp964=)
c.1755T>C (p.Asp585=)
c.4824T>C (p.Asp1608=)
c.4725T>C (p.Asp1575=)
c.4695T>C (p.Asp1565=)
c.4665T>C (p.Asp1555=)
c.4536T>C (p.Asp1512=)
c.4515T>C (p.Asp1505=)
n.4810T>C
6g.157201088T>GCA366241922ARID1Bc.4704T>G (p.Asp1568Glu)
c.4773T>G (p.Asp1591Glu)
c.4992T>G (p.Asp1664Glu)
c.4743T>G (p.Asp1581Glu)
c.4455T>G (p.Asp1485Glu)
c.3021T>G (p.Asp1007Glu)
c.2184T>G (p.Asp728Glu)
c.1815T>G (p.Asp605Glu)
n.3326T>G
n.783T>G
c.4863T>G (p.Asp1621Glu)
n.2860T>G
c.2231T>G
c.2145T>G
n.1529T>G
c.2205T>G (p.Asp735Glu)
c.2364T>G (p.Asp788Glu)
c.4494T>G (p.Asp1498Glu)
c.4614T>G (p.Asp1538Glu)
c.3693T>G (p.Asp1231Glu)
c.3513T>G (p.Asp1171Glu)
c.3273T>G (p.Asp1091Glu)
c.2892T>G (p.Asp964Glu)
c.1755T>G (p.Asp585Glu)
c.4824T>G (p.Asp1608Glu)
c.4725T>G (p.Asp1575Glu)
c.4695T>G (p.Asp1565Glu)
c.4665T>G (p.Asp1555Glu)
c.4536T>G (p.Asp1512Glu)
c.4515T>G (p.Asp1505Glu)
n.4810T>G
dbSNP
6g.157201089A=CA1675522957ARID1Bc.4705A= (p.Met1569=)
c.4774A= (p.Met1592=)
c.4993A= (p.Met1665=)
c.4744A= (p.Met1582=)
c.4456A= (p.Met1486=)
c.3022A= (p.Met1008=)
c.2185A= (p.Met729=)
c.1816A= (p.Met606=)
n.3327A=
n.784A=
c.4864A= (p.Met1622=)
n.2861A=
c.2232A=
c.2146A=
n.1530A=
c.2206A= (p.Met736=)
c.2365A= (p.Met789=)
c.4495A= (p.Met1499=)
c.4615A= (p.Met1539=)
c.3694A= (p.Met1232=)
c.3514A= (p.Met1172=)
c.3274A= (p.Met1092=)
c.2893A= (p.Met965=)
c.1756A= (p.Met586=)
c.4825A= (p.Met1609=)
c.4726A= (p.Met1576=)
c.4696A= (p.Met1566=)
c.4666A= (p.Met1556=)
c.4537A= (p.Met1513=)
c.4516A= (p.Met1506=)
n.4811A=
6g.157201089A>CCA366241925ARID1Bc.4705A>C (p.Met1569Leu)
c.4774A>C (p.Met1592Leu)
c.4993A>C (p.Met1665Leu)
c.4744A>C (p.Met1582Leu)
c.4456A>C (p.Met1486Leu)
c.3022A>C (p.Met1008Leu)
c.2185A>C (p.Met729Leu)
c.1816A>C (p.Met606Leu)
n.3327A>C
n.784A>C
c.4864A>C (p.Met1622Leu)
n.2861A>C
c.2232A>C
c.2146A>C
n.1530A>C
c.2206A>C (p.Met736Leu)
c.2365A>C (p.Met789Leu)
c.4495A>C (p.Met1499Leu)
c.4615A>C (p.Met1539Leu)
c.3694A>C (p.Met1232Leu)
c.3514A>C (p.Met1172Leu)
c.3274A>C (p.Met1092Leu)
c.2893A>C (p.Met965Leu)
c.1756A>C (p.Met586Leu)
c.4825A>C (p.Met1609Leu)
c.4726A>C (p.Met1576Leu)
c.4696A>C (p.Met1566Leu)
c.4666A>C (p.Met1556Leu)
c.4537A>C (p.Met1513Leu)
c.4516A>C (p.Met1506Leu)
n.4811A>C
6g.157201089A>GCA366241929ARID1Bc.4705A>G (p.Met1569Val)
c.4774A>G (p.Met1592Val)
c.4993A>G (p.Met1665Val)
c.4744A>G (p.Met1582Val)
c.4456A>G (p.Met1486Val)
c.3022A>G (p.Met1008Val)
c.2185A>G (p.Met729Val)
c.1816A>G (p.Met606Val)
n.3327A>G
n.784A>G
c.4864A>G (p.Met1622Val)
n.2861A>G
c.2232A>G
c.2146A>G
n.1530A>G
c.2206A>G (p.Met736Val)
c.2365A>G (p.Met789Val)
c.4495A>G (p.Met1499Val)
c.4615A>G (p.Met1539Val)
c.3694A>G (p.Met1232Val)
c.3514A>G (p.Met1172Val)
c.3274A>G (p.Met1092Val)
c.2893A>G (p.Met965Val)
c.1756A>G (p.Met586Val)
c.4825A>G (p.Met1609Val)
c.4726A>G (p.Met1576Val)
c.4696A>G (p.Met1566Val)
c.4666A>G (p.Met1556Val)
c.4537A>G (p.Met1513Val)
c.4516A>G (p.Met1506Val)
n.4811A>G
dbSNP gnomAD v4
6g.157201089A>TCA151062ARID1Bc.4705A>T (p.Met1569Leu)
c.4774A>T (p.Met1592Leu)
c.4993A>T (p.Met1665Leu)
c.4744A>T (p.Met1582Leu)
c.4456A>T (p.Met1486Leu)
c.3022A>T (p.Met1008Leu)
c.2185A>T (p.Met729Leu)
c.1816A>T (p.Met606Leu)
n.3327A>T
n.784A>T
c.4864A>T (p.Met1622Leu)
n.2861A>T
c.2232A>T
c.2146A>T
n.1530A>T
c.2206A>T (p.Met736Leu)
c.2365A>T (p.Met789Leu)
c.4495A>T (p.Met1499Leu)
c.4615A>T (p.Met1539Leu)
c.3694A>T (p.Met1232Leu)
c.3514A>T (p.Met1172Leu)
c.3274A>T (p.Met1092Leu)
c.2893A>T (p.Met965Leu)
c.1756A>T (p.Met586Leu)
c.4825A>T (p.Met1609Leu)
c.4726A>T (p.Met1576Leu)
c.4696A>T (p.Met1566Leu)
c.4666A>T (p.Met1556Leu)
c.4537A>T (p.Met1513Leu)
c.4516A>T (p.Met1506Leu)
n.4811A>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.157201090T>ACA366241931ARID1Bc.4706T>A (p.Met1569Lys)
c.4775T>A (p.Met1592Lys)
c.4994T>A (p.Met1665Lys)
c.4745T>A (p.Met1582Lys)
c.4457T>A (p.Met1486Lys)
c.3023T>A (p.Met1008Lys)
c.2186T>A (p.Met729Lys)
c.1817T>A (p.Met606Lys)
n.3328T>A
n.785T>A
c.4865T>A (p.Met1622Lys)
n.2862T>A
c.2233T>A
c.2147T>A
n.1531T>A
c.2207T>A (p.Met736Lys)
c.2366T>A (p.Met789Lys)
c.4496T>A (p.Met1499Lys)
c.4616T>A (p.Met1539Lys)
c.3695T>A (p.Met1232Lys)
c.3515T>A (p.Met1172Lys)
c.3275T>A (p.Met1092Lys)
c.2894T>A (p.Met965Lys)
c.1757T>A (p.Met586Lys)
c.4826T>A (p.Met1609Lys)
c.4727T>A (p.Met1576Lys)
c.4697T>A (p.Met1566Lys)
c.4667T>A (p.Met1556Lys)
c.4538T>A (p.Met1513Lys)
c.4517T>A (p.Met1506Lys)
n.4812T>A
gnomAD v4
6g.157201090T>CCA4067725ARID1Bc.4706T>C (p.Met1569Thr)
c.4775T>C (p.Met1592Thr)
c.4994T>C (p.Met1665Thr)
c.4745T>C (p.Met1582Thr)
c.4457T>C (p.Met1486Thr)
c.3023T>C (p.Met1008Thr)
c.2186T>C (p.Met729Thr)
c.1817T>C (p.Met606Thr)
n.3328T>C
n.785T>C
c.4865T>C (p.Met1622Thr)
n.2862T>C
c.2233T>C
c.2147T>C
n.1531T>C
c.2207T>C (p.Met736Thr)
c.2366T>C (p.Met789Thr)
c.4496T>C (p.Met1499Thr)
c.4616T>C (p.Met1539Thr)
c.3695T>C (p.Met1232Thr)
c.3515T>C (p.Met1172Thr)
c.3275T>C (p.Met1092Thr)
c.2894T>C (p.Met965Thr)
c.1757T>C (p.Met586Thr)
c.4826T>C (p.Met1609Thr)
c.4727T>C (p.Met1576Thr)
c.4697T>C (p.Met1566Thr)
c.4667T>C (p.Met1556Thr)
c.4538T>C (p.Met1513Thr)
c.4517T>C (p.Met1506Thr)
n.4812T>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.157201090T>GCA366241934ARID1Bc.4706T>G (p.Met1569Arg)
c.4775T>G (p.Met1592Arg)
c.4994T>G (p.Met1665Arg)
c.4745T>G (p.Met1582Arg)
c.4457T>G (p.Met1486Arg)
c.3023T>G (p.Met1008Arg)
c.2186T>G (p.Met729Arg)
c.1817T>G (p.Met606Arg)
n.3328T>G
n.785T>G
c.4865T>G (p.Met1622Arg)
n.2862T>G
c.2233T>G
c.2147T>G
n.1531T>G
c.2207T>G (p.Met736Arg)
c.2366T>G (p.Met789Arg)
c.4496T>G (p.Met1499Arg)
c.4616T>G (p.Met1539Arg)
c.3695T>G (p.Met1232Arg)
c.3515T>G (p.Met1172Arg)
c.3275T>G (p.Met1092Arg)
c.2894T>G (p.Met965Arg)
c.1757T>G (p.Met586Arg)
c.4826T>G (p.Met1609Arg)
c.4727T>G (p.Met1576Arg)
c.4697T>G (p.Met1566Arg)
c.4667T>G (p.Met1556Arg)
c.4538T>G (p.Met1513Arg)
c.4517T>G (p.Met1506Arg)
n.4812T>G
6g.157201090T=CA1675522962ARID1Bc.4706T= (p.Met1569=)
c.4775T= (p.Met1592=)
c.4994T= (p.Met1665=)
c.4745T= (p.Met1582=)
c.4457T= (p.Met1486=)
c.3023T= (p.Met1008=)
c.2186T= (p.Met729=)
c.1817T= (p.Met606=)
n.3328T=
n.785T=
c.4865T= (p.Met1622=)
n.2862T=
c.2233T=
c.2147T=
n.1531T=
c.2207T= (p.Met736=)
c.2366T= (p.Met789=)
c.4496T= (p.Met1499=)
c.4616T= (p.Met1539=)
c.3695T= (p.Met1232=)
c.3515T= (p.Met1172=)
c.3275T= (p.Met1092=)
c.2894T= (p.Met965=)
c.1757T= (p.Met586=)
c.4826T= (p.Met1609=)
c.4727T= (p.Met1576=)
c.4697T= (p.Met1566=)
c.4667T= (p.Met1556=)
c.4538T= (p.Met1513=)
c.4517T= (p.Met1506=)
n.4812T=
6g.157201091G>ACA366241937ARID1Bc.4707G>A (p.Met1569Ile)
c.4776G>A (p.Met1592Ile)
c.4995G>A (p.Met1665Ile)
c.4746G>A (p.Met1582Ile)
c.4458G>A (p.Met1486Ile)
c.3024G>A (p.Met1008Ile)
c.2187G>A (p.Met729Ile)
c.1818G>A (p.Met606Ile)
n.3329G>A
n.786G>A
c.4866G>A (p.Met1622Ile)
n.2863G>A
c.2234G>A
c.2148G>A
n.1532G>A
c.2208G>A (p.Met736Ile)
c.2367G>A (p.Met789Ile)
c.4497G>A (p.Met1499Ile)
c.4617G>A (p.Met1539Ile)
c.3696G>A (p.Met1232Ile)
c.3516G>A (p.Met1172Ile)
c.3276G>A (p.Met1092Ile)
c.2895G>A (p.Met965Ile)
c.1758G>A (p.Met586Ile)
c.4827G>A (p.Met1609Ile)
c.4728G>A (p.Met1576Ile)
c.4698G>A (p.Met1566Ile)
c.4668G>A (p.Met1556Ile)
c.4539G>A (p.Met1513Ile)
c.4518G>A (p.Met1506Ile)
n.4813G>A
dbSNP gnomAD v4
6g.157201091G>CCA366241940ARID1Bc.4707G>C (p.Met1569Ile)
c.4776G>C (p.Met1592Ile)
c.4995G>C (p.Met1665Ile)
c.4746G>C (p.Met1582Ile)
c.4458G>C (p.Met1486Ile)
c.3024G>C (p.Met1008Ile)
c.2187G>C (p.Met729Ile)
c.1818G>C (p.Met606Ile)
n.3329G>C
n.786G>C
c.4866G>C (p.Met1622Ile)
n.2863G>C
c.2234G>C
c.2148G>C
n.1532G>C
c.2208G>C (p.Met736Ile)
c.2367G>C (p.Met789Ile)
c.4497G>C (p.Met1499Ile)
c.4617G>C (p.Met1539Ile)
c.3696G>C (p.Met1232Ile)
c.3516G>C (p.Met1172Ile)
c.3276G>C (p.Met1092Ile)
c.2895G>C (p.Met965Ile)
c.1758G>C (p.Met586Ile)
c.4827G>C (p.Met1609Ile)
c.4728G>C (p.Met1576Ile)
c.4698G>C (p.Met1566Ile)
c.4668G>C (p.Met1556Ile)
c.4539G>C (p.Met1513Ile)
c.4518G>C (p.Met1506Ile)
n.4813G>C
dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
6g.157201091G=CA1675522965ARID1Bc.4707G= (p.Met1569=)
c.4776G= (p.Met1592=)
c.4995G= (p.Met1665=)
c.4746G= (p.Met1582=)
c.4458G= (p.Met1486=)
c.3024G= (p.Met1008=)
c.2187G= (p.Met729=)
c.1818G= (p.Met606=)
n.3329G=
n.786G=
c.4866G= (p.Met1622=)
n.2863G=
c.2234G=
c.2148G=
n.1532G=
c.2208G= (p.Met736=)
c.2367G= (p.Met789=)
c.4497G= (p.Met1499=)
c.4617G= (p.Met1539=)
c.3696G= (p.Met1232=)
c.3516G= (p.Met1172=)
c.3276G= (p.Met1092=)
c.2895G= (p.Met965=)
c.1758G= (p.Met586=)
c.4827G= (p.Met1609=)
c.4728G= (p.Met1576=)
c.4698G= (p.Met1566=)
c.4668G= (p.Met1556=)
c.4539G= (p.Met1513=)
c.4518G= (p.Met1506=)
n.4813G=
6g.157201091G>TCA366241943ARID1Bc.4707G>T (p.Met1569Ile)
c.4776G>T (p.Met1592Ile)
c.4995G>T (p.Met1665Ile)
c.4746G>T (p.Met1582Ile)
c.4458G>T (p.Met1486Ile)
c.3024G>T (p.Met1008Ile)
c.2187G>T (p.Met729Ile)
c.1818G>T (p.Met606Ile)
n.3329G>T
n.786G>T
c.4866G>T (p.Met1622Ile)
n.2863G>T
c.2234G>T
c.2148G>T
n.1532G>T
c.2208G>T (p.Met736Ile)
c.2367G>T (p.Met789Ile)
c.4497G>T (p.Met1499Ile)
c.4617G>T (p.Met1539Ile)
c.3696G>T (p.Met1232Ile)
c.3516G>T (p.Met1172Ile)
c.3276G>T (p.Met1092Ile)
c.2895G>T (p.Met965Ile)
c.1758G>T (p.Met586Ile)
c.4827G>T (p.Met1609Ile)
c.4728G>T (p.Met1576Ile)
c.4698G>T (p.Met1566Ile)
c.4668G>T (p.Met1556Ile)
c.4539G>T (p.Met1513Ile)
c.4518G>T (p.Met1506Ile)
n.4813G>T
6g.157201092A>CCA366241945ARID1Bc.4708A>C (p.Met1570Leu)
c.4777A>C (p.Met1593Leu)
c.4996A>C (p.Met1666Leu)
c.4747A>C (p.Met1583Leu)
c.4459A>C (p.Met1487Leu)
c.3025A>C (p.Met1009Leu)
c.2188A>C (p.Met730Leu)
c.1819A>C (p.Met607Leu)
n.3330A>C
n.787A>C
c.4867A>C (p.Met1623Leu)
n.2864A>C
c.2235A>C
c.2149A>C
n.1533A>C
c.2209A>C (p.Met737Leu)
c.2368A>C (p.Met790Leu)
c.4498A>C (p.Met1500Leu)
c.4618A>C (p.Met1540Leu)
c.3697A>C (p.Met1233Leu)
c.3517A>C (p.Met1173Leu)
c.3277A>C (p.Met1093Leu)
c.2896A>C (p.Met966Leu)
c.1759A>C (p.Met587Leu)
c.4828A>C (p.Met1610Leu)
c.4729A>C (p.Met1577Leu)
c.4699A>C (p.Met1567Leu)
c.4669A>C (p.Met1557Leu)
c.4540A>C (p.Met1514Leu)
c.4519A>C (p.Met1507Leu)
n.4814A>C
6g.157201092A>GCA366241947ARID1Bc.4708A>G (p.Met1570Val)
c.4777A>G (p.Met1593Val)
c.4996A>G (p.Met1666Val)
c.4747A>G (p.Met1583Val)
c.4459A>G (p.Met1487Val)
c.3025A>G (p.Met1009Val)
c.2188A>G (p.Met730Val)
c.1819A>G (p.Met607Val)
n.3330A>G
n.787A>G
c.4867A>G (p.Met1623Val)
n.2864A>G
c.2235A>G
c.2149A>G
n.1533A>G
c.2209A>G (p.Met737Val)
c.2368A>G (p.Met790Val)
c.4498A>G (p.Met1500Val)
c.4618A>G (p.Met1540Val)
c.3697A>G (p.Met1233Val)
c.3517A>G (p.Met1173Val)
c.3277A>G (p.Met1093Val)
c.2896A>G (p.Met966Val)
c.1759A>G (p.Met587Val)
c.4828A>G (p.Met1610Val)
c.4729A>G (p.Met1577Val)
c.4699A>G (p.Met1567Val)
c.4669A>G (p.Met1557Val)
c.4540A>G (p.Met1514Val)
c.4519A>G (p.Met1507Val)
n.4814A>G
6g.157201092A>TCA366241949ARID1Bc.4708A>T (p.Met1570Leu)
c.4777A>T (p.Met1593Leu)
c.4996A>T (p.Met1666Leu)
c.4747A>T (p.Met1583Leu)
c.4459A>T (p.Met1487Leu)
c.3025A>T (p.Met1009Leu)
c.2188A>T (p.Met730Leu)
c.1819A>T (p.Met607Leu)
n.3330A>T
n.787A>T
c.4867A>T (p.Met1623Leu)
n.2864A>T
c.2235A>T
c.2149A>T
n.1533A>T
c.2209A>T (p.Met737Leu)
c.2368A>T (p.Met790Leu)
c.4498A>T (p.Met1500Leu)
c.4618A>T (p.Met1540Leu)
c.3697A>T (p.Met1233Leu)
c.3517A>T (p.Met1173Leu)
c.3277A>T (p.Met1093Leu)
c.2896A>T (p.Met966Leu)
c.1759A>T (p.Met587Leu)
c.4828A>T (p.Met1610Leu)
c.4729A>T (p.Met1577Leu)
c.4699A>T (p.Met1567Leu)
c.4669A>T (p.Met1557Leu)
c.4540A>T (p.Met1514Leu)
c.4519A>T (p.Met1507Leu)
n.4814A>T
6g.157201093T>ACA366241952ARID1Bc.4709T>A (p.Met1570Lys)
c.4778T>A (p.Met1593Lys)
c.4997T>A (p.Met1666Lys)
c.4748T>A (p.Met1583Lys)
c.4460T>A (p.Met1487Lys)
c.3026T>A (p.Met1009Lys)
c.2189T>A (p.Met730Lys)
c.1820T>A (p.Met607Lys)
n.3331T>A
n.788T>A
c.4868T>A (p.Met1623Lys)
n.2865T>A
c.2236T>A
c.2150T>A
n.1534T>A
c.2210T>A (p.Met737Lys)
c.2369T>A (p.Met790Lys)
c.4499T>A (p.Met1500Lys)
c.4619T>A (p.Met1540Lys)
c.3698T>A (p.Met1233Lys)
c.3518T>A (p.Met1173Lys)
c.3278T>A (p.Met1093Lys)
c.2897T>A (p.Met966Lys)
c.1760T>A (p.Met587Lys)
c.4829T>A (p.Met1610Lys)
c.4730T>A (p.Met1577Lys)
c.4700T>A (p.Met1567Lys)
c.4670T>A (p.Met1557Lys)
c.4541T>A (p.Met1514Lys)
c.4520T>A (p.Met1507Lys)
n.4815T>A
6g.157201093T>CCA366241954ARID1Bc.4709T>C (p.Met1570Thr)
c.4778T>C (p.Met1593Thr)
c.4997T>C (p.Met1666Thr)
c.4748T>C (p.Met1583Thr)
c.4460T>C (p.Met1487Thr)
c.3026T>C (p.Met1009Thr)
c.2189T>C (p.Met730Thr)
c.1820T>C (p.Met607Thr)
n.3331T>C
n.788T>C
c.4868T>C (p.Met1623Thr)
n.2865T>C
c.2236T>C
c.2150T>C
n.1534T>C
c.2210T>C (p.Met737Thr)
c.2369T>C (p.Met790Thr)
c.4499T>C (p.Met1500Thr)
c.4619T>C (p.Met1540Thr)
c.3698T>C (p.Met1233Thr)
c.3518T>C (p.Met1173Thr)
c.3278T>C (p.Met1093Thr)
c.2897T>C (p.Met966Thr)
c.1760T>C (p.Met587Thr)
c.4829T>C (p.Met1610Thr)
c.4730T>C (p.Met1577Thr)
c.4700T>C (p.Met1567Thr)
c.4670T>C (p.Met1557Thr)
c.4541T>C (p.Met1514Thr)
c.4520T>C (p.Met1507Thr)
n.4815T>C
6g.157201093T>GCA366241956ARID1Bc.4709T>G (p.Met1570Arg)
c.4778T>G (p.Met1593Arg)
c.4997T>G (p.Met1666Arg)
c.4748T>G (p.Met1583Arg)
c.4460T>G (p.Met1487Arg)
c.3026T>G (p.Met1009Arg)
c.2189T>G (p.Met730Arg)
c.1820T>G (p.Met607Arg)
n.3331T>G
n.788T>G
c.4868T>G (p.Met1623Arg)
n.2865T>G
c.2236T>G
c.2150T>G
n.1534T>G
c.2210T>G (p.Met737Arg)
c.2369T>G (p.Met790Arg)
c.4499T>G (p.Met1500Arg)
c.4619T>G (p.Met1540Arg)
c.3698T>G (p.Met1233Arg)
c.3518T>G (p.Met1173Arg)
c.3278T>G (p.Met1093Arg)
c.2897T>G (p.Met966Arg)
c.1760T>G (p.Met587Arg)
c.4829T>G (p.Met1610Arg)
c.4730T>G (p.Met1577Arg)
c.4700T>G (p.Met1567Arg)
c.4670T>G (p.Met1557Arg)
c.4541T>G (p.Met1514Arg)
c.4520T>G (p.Met1507Arg)
n.4815T>G
6g.157201094G>ACA366241963ARID1Bc.4710G>A (p.Met1570Ile)
c.4779G>A (p.Met1593Ile)
c.4998G>A (p.Met1666Ile)
c.4749G>A (p.Met1583Ile)
c.4461G>A (p.Met1487Ile)
c.3027G>A (p.Met1009Ile)
c.2190G>A (p.Met730Ile)
c.1821G>A (p.Met607Ile)
n.3332G>A
n.789G>A
c.4869G>A (p.Met1623Ile)
n.2866G>A
c.2237G>A
c.2151G>A
n.1535G>A
c.2211G>A (p.Met737Ile)
c.2370G>A (p.Met790Ile)
c.4500G>A (p.Met1500Ile)
c.4620G>A (p.Met1540Ile)
c.3699G>A (p.Met1233Ile)
c.3519G>A (p.Met1173Ile)
c.3279G>A (p.Met1093Ile)
c.2898G>A (p.Met966Ile)
c.1761G>A (p.Met587Ile)
c.4830G>A (p.Met1610Ile)
c.4731G>A (p.Met1577Ile)
c.4701G>A (p.Met1567Ile)
c.4671G>A (p.Met1557Ile)
c.4542G>A (p.Met1514Ile)
c.4521G>A (p.Met1507Ile)
n.4816G>A
6g.157201094G>CCA366241959ARID1Bc.4710G>C (p.Met1570Ile)
c.4779G>C (p.Met1593Ile)
c.4998G>C (p.Met1666Ile)
c.4749G>C (p.Met1583Ile)
c.4461G>C (p.Met1487Ile)
c.3027G>C (p.Met1009Ile)
c.2190G>C (p.Met730Ile)
c.1821G>C (p.Met607Ile)
n.3332G>C
n.789G>C
c.4869G>C (p.Met1623Ile)
n.2866G>C
c.2237G>C
c.2151G>C
n.1535G>C
c.2211G>C (p.Met737Ile)
c.2370G>C (p.Met790Ile)
c.4500G>C (p.Met1500Ile)
c.4620G>C (p.Met1540Ile)
c.3699G>C (p.Met1233Ile)
c.3519G>C (p.Met1173Ile)
c.3279G>C (p.Met1093Ile)
c.2898G>C (p.Met966Ile)
c.1761G>C (p.Met587Ile)
c.4830G>C (p.Met1610Ile)
c.4731G>C (p.Met1577Ile)
c.4701G>C (p.Met1567Ile)
c.4671G>C (p.Met1557Ile)
c.4542G>C (p.Met1514Ile)
c.4521G>C (p.Met1507Ile)
n.4816G>C
6g.157201094G>TCA366241961ARID1Bc.4710G>T (p.Met1570Ile)
c.4779G>T (p.Met1593Ile)
c.4998G>T (p.Met1666Ile)
c.4749G>T (p.Met1583Ile)
c.4461G>T (p.Met1487Ile)
c.3027G>T (p.Met1009Ile)
c.2190G>T (p.Met730Ile)
c.1821G>T (p.Met607Ile)
n.3332G>T
n.789G>T
c.4869G>T (p.Met1623Ile)
n.2866G>T
c.2237G>T
c.2151G>T
n.1535G>T
c.2211G>T (p.Met737Ile)
c.2370G>T (p.Met790Ile)
c.4500G>T (p.Met1500Ile)
c.4620G>T (p.Met1540Ile)
c.3699G>T (p.Met1233Ile)
c.3519G>T (p.Met1173Ile)
c.3279G>T (p.Met1093Ile)
c.2898G>T (p.Met966Ile)
c.1761G>T (p.Met587Ile)
c.4830G>T (p.Met1610Ile)
c.4731G>T (p.Met1577Ile)
c.4701G>T (p.Met1567Ile)
c.4671G>T (p.Met1557Ile)
c.4542G>T (p.Met1514Ile)
c.4521G>T (p.Met1507Ile)
n.4816G>T
6g.157201095dupCA2499218172ARID1Bc.4711dup (p.Val1571GlyfsTer9)
c.4780dup (p.Val1594GlyfsTer9)
c.4999dup (p.Val1667GlyfsTer9)
c.4750dup (p.Val1584GlyfsTer9)
c.4462dup (p.Val1488GlyfsTer9)
c.3028dup (p.Val1010GlyfsTer9)
c.2191dup (p.Val731GlyfsTer9)
c.1822dup (p.Val608GlyfsTer9)
n.3333dup
n.790dup
c.4870dup (p.Val1624GlyfsTer9)
n.2867dup
c.2238dup
c.2152dup
n.1536dup
c.2212dup (p.Val738GlyfsTer9)
c.2371dup (p.Val791GlyfsTer9)
c.4501dup (p.Val1501GlyfsTer9)
c.4621dup (p.Val1541GlyfsTer9)
c.3700dup (p.Val1234GlyfsTer9)
c.3520dup (p.Val1174GlyfsTer9)
c.3280dup (p.Val1094GlyfsTer9)
c.2899dup (p.Val967GlyfsTer9)
c.1762dup (p.Val588GlyfsTer9)
c.4831dup (p.Val1611GlyfsTer9)
c.4732dup (p.Val1578GlyfsTer9)
c.4702dup (p.Val1568GlyfsTer9)
c.4672dup (p.Val1558GlyfsTer9)
c.4543dup (p.Val1515GlyfsTer9)
c.4522dup (p.Val1508GlyfsTer9)
n.4817dup
ClinVar dbSNP
6g.157201095G>ACA4067726ARID1Bc.4711G>A (p.Val1571Ile)
c.4780G>A (p.Val1594Ile)
c.4999G>A (p.Val1667Ile)
c.4750G>A (p.Val1584Ile)
c.4462G>A (p.Val1488Ile)
c.3028G>A (p.Val1010Ile)
c.2191G>A (p.Val731Ile)
c.1822G>A (p.Val608Ile)
n.3333G>A
n.790G>A
c.4870G>A (p.Val1624Ile)
n.2867G>A
c.2238G>A
c.2152G>A
n.1536G>A
c.2212G>A (p.Val738Ile)
c.2371G>A (p.Val791Ile)
c.4501G>A (p.Val1501Ile)
c.4621G>A (p.Val1541Ile)
c.3700G>A (p.Val1234Ile)
c.3520G>A (p.Val1174Ile)
c.3280G>A (p.Val1094Ile)
c.2899G>A (p.Val967Ile)
c.1762G>A (p.Val588Ile)
c.4831G>A (p.Val1611Ile)
c.4732G>A (p.Val1578Ile)
c.4702G>A (p.Val1568Ile)
c.4672G>A (p.Val1558Ile)
c.4543G>A (p.Val1515Ile)
c.4522G>A (p.Val1508Ile)
n.4817G>A
dbSNP ExAC gnomAD v2 gnomAD v4
6g.157201095G>CCA366241967ARID1Bc.4711G>C (p.Val1571Leu)
c.4780G>C (p.Val1594Leu)
c.4999G>C (p.Val1667Leu)
c.4750G>C (p.Val1584Leu)
c.4462G>C (p.Val1488Leu)
c.3028G>C (p.Val1010Leu)
c.2191G>C (p.Val731Leu)
c.1822G>C (p.Val608Leu)
n.3333G>C
n.790G>C
c.4870G>C (p.Val1624Leu)
n.2867G>C
c.2238G>C
c.2152G>C
n.1536G>C
c.2212G>C (p.Val738Leu)
c.2371G>C (p.Val791Leu)
c.4501G>C (p.Val1501Leu)
c.4621G>C (p.Val1541Leu)
c.3700G>C (p.Val1234Leu)
c.3520G>C (p.Val1174Leu)
c.3280G>C (p.Val1094Leu)
c.2899G>C (p.Val967Leu)
c.1762G>C (p.Val588Leu)
c.4831G>C (p.Val1611Leu)
c.4732G>C (p.Val1578Leu)
c.4702G>C (p.Val1568Leu)
c.4672G>C (p.Val1558Leu)
c.4543G>C (p.Val1515Leu)
c.4522G>C (p.Val1508Leu)
n.4817G>C
6g.157201095G=CA1675522970ARID1Bc.4711G= (p.Val1571=)
c.4780G= (p.Val1594=)
c.4999G= (p.Val1667=)
c.4750G= (p.Val1584=)
c.4462G= (p.Val1488=)
c.3028G= (p.Val1010=)
c.2191G= (p.Val731=)
c.1822G= (p.Val608=)
n.3333G=
n.790G=
c.4870G= (p.Val1624=)
n.2867G=
c.2238G=
c.2152G=
n.1536G=
c.2212G= (p.Val738=)
c.2371G= (p.Val791=)
c.4501G= (p.Val1501=)
c.4621G= (p.Val1541=)
c.3700G= (p.Val1234=)
c.3520G= (p.Val1174=)
c.3280G= (p.Val1094=)
c.2899G= (p.Val967=)
c.1762G= (p.Val588=)
c.4831G= (p.Val1611=)
c.4732G= (p.Val1578=)
c.4702G= (p.Val1568=)
c.4672G= (p.Val1558=)
c.4543G= (p.Val1515=)
c.4522G= (p.Val1508=)
n.4817G=
6g.157201095G>TCA4067727ARID1Bc.4711G>T (p.Val1571Leu)
c.4780G>T (p.Val1594Leu)
c.4999G>T (p.Val1667Leu)
c.4750G>T (p.Val1584Leu)
c.4462G>T (p.Val1488Leu)
c.3028G>T (p.Val1010Leu)
c.2191G>T (p.Val731Leu)
c.1822G>T (p.Val608Leu)
n.3333G>T
n.790G>T
c.4870G>T (p.Val1624Leu)
n.2867G>T
c.2238G>T
c.2152G>T
n.1536G>T
c.2212G>T (p.Val738Leu)
c.2371G>T (p.Val791Leu)
c.4501G>T (p.Val1501Leu)
c.4621G>T (p.Val1541Leu)
c.3700G>T (p.Val1234Leu)
c.3520G>T (p.Val1174Leu)
c.3280G>T (p.Val1094Leu)
c.2899G>T (p.Val967Leu)
c.1762G>T (p.Val588Leu)
c.4831G>T (p.Val1611Leu)
c.4732G>T (p.Val1578Leu)
c.4702G>T (p.Val1568Leu)
c.4672G>T (p.Val1558Leu)
c.4543G>T (p.Val1515Leu)
c.4522G>T (p.Val1508Leu)
n.4817G>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.157201096T>ACA366241972ARID1Bc.4712T>A (p.Val1571Glu)
c.4781T>A (p.Val1594Glu)
c.5000T>A (p.Val1667Glu)
c.4751T>A (p.Val1584Glu)
c.4463T>A (p.Val1488Glu)
c.3029T>A (p.Val1010Glu)
c.2192T>A (p.Val731Glu)
c.1823T>A (p.Val608Glu)
n.3334T>A
n.791T>A
c.4871T>A (p.Val1624Glu)
n.2868T>A
c.2239T>A
c.2153T>A
n.1537T>A
c.2213T>A (p.Val738Glu)
c.2372T>A (p.Val791Glu)
c.4502T>A (p.Val1501Glu)
c.4622T>A (p.Val1541Glu)
c.3701T>A (p.Val1234Glu)
c.3521T>A (p.Val1174Glu)
c.3281T>A (p.Val1094Glu)
c.2900T>A (p.Val967Glu)
c.1763T>A (p.Val588Glu)
c.4832T>A (p.Val1611Glu)
c.4733T>A (p.Val1578Glu)
c.4703T>A (p.Val1568Glu)
c.4673T>A (p.Val1558Glu)
c.4544T>A (p.Val1515Glu)
c.4523T>A (p.Val1508Glu)
n.4818T>A
6g.157201096T>CCA366241974ARID1Bc.4712T>C (p.Val1571Ala)
c.4781T>C (p.Val1594Ala)
c.5000T>C (p.Val1667Ala)
c.4751T>C (p.Val1584Ala)
c.4463T>C (p.Val1488Ala)
c.3029T>C (p.Val1010Ala)
c.2192T>C (p.Val731Ala)
c.1823T>C (p.Val608Ala)
n.3334T>C
n.791T>C
c.4871T>C (p.Val1624Ala)
n.2868T>C
c.2239T>C
c.2153T>C
n.1537T>C
c.2213T>C (p.Val738Ala)
c.2372T>C (p.Val791Ala)
c.4502T>C (p.Val1501Ala)
c.4622T>C (p.Val1541Ala)
c.3701T>C (p.Val1234Ala)
c.3521T>C (p.Val1174Ala)
c.3281T>C (p.Val1094Ala)
c.2900T>C (p.Val967Ala)
c.1763T>C (p.Val588Ala)
c.4832T>C (p.Val1611Ala)
c.4733T>C (p.Val1578Ala)
c.4703T>C (p.Val1568Ala)
c.4673T>C (p.Val1558Ala)
c.4544T>C (p.Val1515Ala)
c.4523T>C (p.Val1508Ala)
n.4818T>C
6g.157201096T>GCA366241976ARID1Bc.4712T>G (p.Val1571Gly)
c.4781T>G (p.Val1594Gly)
c.5000T>G (p.Val1667Gly)
c.4751T>G (p.Val1584Gly)
c.4463T>G (p.Val1488Gly)
c.3029T>G (p.Val1010Gly)
c.2192T>G (p.Val731Gly)
c.1823T>G (p.Val608Gly)
n.3334T>G
n.791T>G
c.4871T>G (p.Val1624Gly)
n.2868T>G
c.2239T>G
c.2153T>G
n.1537T>G
c.2213T>G (p.Val738Gly)
c.2372T>G (p.Val791Gly)
c.4502T>G (p.Val1501Gly)
c.4622T>G (p.Val1541Gly)
c.3701T>G (p.Val1234Gly)
c.3521T>G (p.Val1174Gly)
c.3281T>G (p.Val1094Gly)
c.2900T>G (p.Val967Gly)
c.1763T>G (p.Val588Gly)
c.4832T>G (p.Val1611Gly)
c.4733T>G (p.Val1578Gly)
c.4703T>G (p.Val1568Gly)
c.4673T>G (p.Val1558Gly)
c.4544T>G (p.Val1515Gly)
c.4523T>G (p.Val1508Gly)
n.4818T>G
dbSNP
6g.157201096T=CA1675522974ARID1Bc.4712T= (p.Val1571=)
c.4781T= (p.Val1594=)
c.5000T= (p.Val1667=)
c.4751T= (p.Val1584=)
c.4463T= (p.Val1488=)
c.3029T= (p.Val1010=)
c.2192T= (p.Val731=)
c.1823T= (p.Val608=)
n.3334T=
n.791T=
c.4871T= (p.Val1624=)
n.2868T=
c.2239T=
c.2153T=
n.1537T=
c.2213T= (p.Val738=)
c.2372T= (p.Val791=)
c.4502T= (p.Val1501=)
c.4622T= (p.Val1541=)
c.3701T= (p.Val1234=)
c.3521T= (p.Val1174=)
c.3281T= (p.Val1094=)
c.2900T= (p.Val967=)
c.1763T= (p.Val588=)
c.4832T= (p.Val1611=)
c.4733T= (p.Val1578=)
c.4703T= (p.Val1568=)
c.4673T= (p.Val1558=)
c.4544T= (p.Val1515=)
c.4523T= (p.Val1508=)
n.4818T=
6g.157201097A>CCA452978429ARID1Bc.4713A>C (p.Val1571=)
c.4782A>C (p.Val1594=)
c.5001A>C (p.Val1667=)
c.4752A>C (p.Val1584=)
c.4464A>C (p.Val1488=)
c.3030A>C (p.Val1010=)
c.2193A>C (p.Val731=)
c.1824A>C (p.Val608=)
n.3335A>C
n.792A>C
c.4872A>C (p.Val1624=)
n.2869A>C
c.2240A>C
c.2154A>C
n.1538A>C
c.2214A>C (p.Val738=)
c.2373A>C (p.Val791=)
c.4503A>C (p.Val1501=)
c.4623A>C (p.Val1541=)
c.3702A>C (p.Val1234=)
c.3522A>C (p.Val1174=)
c.3282A>C (p.Val1094=)
c.2901A>C (p.Val967=)
c.1764A>C (p.Val588=)
c.4833A>C (p.Val1611=)
c.4734A>C (p.Val1578=)
c.4704A>C (p.Val1568=)
c.4674A>C (p.Val1558=)
c.4545A>C (p.Val1515=)
c.4524A>C (p.Val1508=)
n.4819A>C
6g.157201097A>GCA452978430ARID1Bc.4713A>G (p.Val1571=)
c.4782A>G (p.Val1594=)
c.5001A>G (p.Val1667=)
c.4752A>G (p.Val1584=)
c.4464A>G (p.Val1488=)
c.3030A>G (p.Val1010=)
c.2193A>G (p.Val731=)
c.1824A>G (p.Val608=)
n.3335A>G
n.792A>G
c.4872A>G (p.Val1624=)
n.2869A>G
c.2240A>G
c.2154A>G
n.1538A>G
c.2214A>G (p.Val738=)
c.2373A>G (p.Val791=)
c.4503A>G (p.Val1501=)
c.4623A>G (p.Val1541=)
c.3702A>G (p.Val1234=)
c.3522A>G (p.Val1174=)
c.3282A>G (p.Val1094=)
c.2901A>G (p.Val967=)
c.1764A>G (p.Val588=)
c.4833A>G (p.Val1611=)
c.4734A>G (p.Val1578=)
c.4704A>G (p.Val1568=)
c.4674A>G (p.Val1558=)
c.4545A>G (p.Val1515=)
c.4524A>G (p.Val1508=)
n.4819A>G
6g.157201097A>TCA452978431ARID1Bc.4713A>T (p.Val1571=)
c.4782A>T (p.Val1594=)
c.5001A>T (p.Val1667=)
c.4752A>T (p.Val1584=)
c.4464A>T (p.Val1488=)
c.3030A>T (p.Val1010=)
c.2193A>T (p.Val731=)
c.1824A>T (p.Val608=)
n.3335A>T
n.792A>T
c.4872A>T (p.Val1624=)
n.2869A>T
c.2240A>T
c.2154A>T
n.1538A>T
c.2214A>T (p.Val738=)
c.2373A>T (p.Val791=)
c.4503A>T (p.Val1501=)
c.4623A>T (p.Val1541=)
c.3702A>T (p.Val1234=)
c.3522A>T (p.Val1174=)
c.3282A>T (p.Val1094=)
c.2901A>T (p.Val967=)
c.1764A>T (p.Val588=)
c.4833A>T (p.Val1611=)
c.4734A>T (p.Val1578=)
c.4704A>T (p.Val1568=)
c.4674A>T (p.Val1558=)
c.4545A>T (p.Val1515=)
c.4524A>T (p.Val1508=)
n.4819A>T
6g.157201098C>ACA366241979ARID1Bc.4714C>A (p.Pro1572Thr)
c.4783C>A (p.Pro1595Thr)
c.5002C>A (p.Pro1668Thr)
c.4753C>A (p.Pro1585Thr)
c.4465C>A (p.Pro1489Thr)
c.3031C>A (p.Pro1011Thr)
c.2194C>A (p.Pro732Thr)
c.1825C>A (p.Pro609Thr)
n.3336C>A
n.793C>A
c.4873C>A (p.Pro1625Thr)
n.2870C>A
c.2241C>A
c.2155C>A
n.1539C>A
c.2215C>A (p.Pro739Thr)
c.2374C>A (p.Pro792Thr)
c.4504C>A (p.Pro1502Thr)
c.4624C>A (p.Pro1542Thr)
c.3703C>A (p.Pro1235Thr)
c.3523C>A (p.Pro1175Thr)
c.3283C>A (p.Pro1095Thr)
c.2902C>A (p.Pro968Thr)
c.1765C>A (p.Pro589Thr)
c.4834C>A (p.Pro1612Thr)
c.4735C>A (p.Pro1579Thr)
c.4705C>A (p.Pro1569Thr)
c.4675C>A (p.Pro1559Thr)
c.4546C>A (p.Pro1516Thr)
c.4525C>A (p.Pro1509Thr)
n.4820C>A
6g.157201098C>GCA366241980ARID1Bc.4714C>G (p.Pro1572Ala)
c.4783C>G (p.Pro1595Ala)
c.5002C>G (p.Pro1668Ala)
c.4753C>G (p.Pro1585Ala)
c.4465C>G (p.Pro1489Ala)
c.3031C>G (p.Pro1011Ala)
c.2194C>G (p.Pro732Ala)
c.1825C>G (p.Pro609Ala)
n.3336C>G
n.793C>G
c.4873C>G (p.Pro1625Ala)
n.2870C>G
c.2241C>G
c.2155C>G
n.1539C>G
c.2215C>G (p.Pro739Ala)
c.2374C>G (p.Pro792Ala)
c.4504C>G (p.Pro1502Ala)
c.4624C>G (p.Pro1542Ala)
c.3703C>G (p.Pro1235Ala)
c.3523C>G (p.Pro1175Ala)
c.3283C>G (p.Pro1095Ala)
c.2902C>G (p.Pro968Ala)
c.1765C>G (p.Pro589Ala)
c.4834C>G (p.Pro1612Ala)
c.4735C>G (p.Pro1579Ala)
c.4705C>G (p.Pro1569Ala)
c.4675C>G (p.Pro1559Ala)
c.4546C>G (p.Pro1516Ala)
c.4525C>G (p.Pro1509Ala)
n.4820C>G
dbSNP
6g.157201098C>TCA366241981ARID1Bc.4714C>T (p.Pro1572Ser)
c.4783C>T (p.Pro1595Ser)
c.5002C>T (p.Pro1668Ser)
c.4753C>T (p.Pro1585Ser)
c.4465C>T (p.Pro1489Ser)
c.3031C>T (p.Pro1011Ser)
c.2194C>T (p.Pro732Ser)
c.1825C>T (p.Pro609Ser)
n.3336C>T
n.793C>T
c.4873C>T (p.Pro1625Ser)
n.2870C>T
c.2241C>T
c.2155C>T
n.1539C>T
c.2215C>T (p.Pro739Ser)
c.2374C>T (p.Pro792Ser)
c.4504C>T (p.Pro1502Ser)
c.4624C>T (p.Pro1542Ser)
c.3703C>T (p.Pro1235Ser)
c.3523C>T (p.Pro1175Ser)
c.3283C>T (p.Pro1095Ser)
c.2902C>T (p.Pro968Ser)
c.1765C>T (p.Pro589Ser)
c.4834C>T (p.Pro1612Ser)
c.4735C>T (p.Pro1579Ser)
c.4705C>T (p.Pro1569Ser)
c.4675C>T (p.Pro1559Ser)
c.4546C>T (p.Pro1516Ser)
c.4525C>T (p.Pro1509Ser)
n.4820C>T
dbSNP gnomAD v4
6g.157201099C>ACA366241985ARID1Bc.4715C>A (p.Pro1572His)
c.4784C>A (p.Pro1595His)
c.5003C>A (p.Pro1668His)
c.4754C>A (p.Pro1585His)
c.4466C>A (p.Pro1489His)
c.3032C>A (p.Pro1011His)
c.2195C>A (p.Pro732His)
c.1826C>A (p.Pro609His)
n.3337C>A
n.794C>A
c.4874C>A (p.Pro1625His)
n.2871C>A
c.2242C>A
c.2156C>A
n.1540C>A
c.2216C>A (p.Pro739His)
c.2375C>A (p.Pro792His)
c.4505C>A (p.Pro1502His)
c.4625C>A (p.Pro1542His)
c.3704C>A (p.Pro1235His)
c.3524C>A (p.Pro1175His)
c.3284C>A (p.Pro1095His)
c.2903C>A (p.Pro968His)
c.1766C>A (p.Pro589His)
c.4835C>A (p.Pro1612His)
c.4736C>A (p.Pro1579His)
c.4706C>A (p.Pro1569His)
c.4676C>A (p.Pro1559His)
c.4547C>A (p.Pro1516His)
c.4526C>A (p.Pro1509His)
n.4821C>A
dbSNP gnomAD v4
6g.157201099C=CA1675522976ARID1Bc.4715C= (p.Pro1572=)
c.4784C= (p.Pro1595=)
c.5003C= (p.Pro1668=)
c.4754C= (p.Pro1585=)
c.4466C= (p.Pro1489=)
c.3032C= (p.Pro1011=)
c.2195C= (p.Pro732=)
c.1826C= (p.Pro609=)
n.3337C=
n.794C=
c.4874C= (p.Pro1625=)
n.2871C=
c.2242C=
c.2156C=
n.1540C=
c.2216C= (p.Pro739=)
c.2375C= (p.Pro792=)
c.4505C= (p.Pro1502=)
c.4625C= (p.Pro1542=)
c.3704C= (p.Pro1235=)
c.3524C= (p.Pro1175=)
c.3284C= (p.Pro1095=)
c.2903C= (p.Pro968=)
c.1766C= (p.Pro589=)
c.4835C= (p.Pro1612=)
c.4736C= (p.Pro1579=)
c.4706C= (p.Pro1569=)
c.4676C= (p.Pro1559=)
c.4547C= (p.Pro1516=)
c.4526C= (p.Pro1509=)
n.4821C=
6g.157201099C>GCA366241986ARID1Bc.4715C>G (p.Pro1572Arg)
c.4784C>G (p.Pro1595Arg)
c.5003C>G (p.Pro1668Arg)
c.4754C>G (p.Pro1585Arg)
c.4466C>G (p.Pro1489Arg)
c.3032C>G (p.Pro1011Arg)
c.2195C>G (p.Pro732Arg)
c.1826C>G (p.Pro609Arg)
n.3337C>G
n.794C>G
c.4874C>G (p.Pro1625Arg)
n.2871C>G
c.2242C>G
c.2156C>G
n.1540C>G
c.2216C>G (p.Pro739Arg)
c.2375C>G (p.Pro792Arg)
c.4505C>G (p.Pro1502Arg)
c.4625C>G (p.Pro1542Arg)
c.3704C>G (p.Pro1235Arg)
c.3524C>G (p.Pro1175Arg)
c.3284C>G (p.Pro1095Arg)
c.2903C>G (p.Pro968Arg)
c.1766C>G (p.Pro589Arg)
c.4835C>G (p.Pro1612Arg)
c.4736C>G (p.Pro1579Arg)
c.4706C>G (p.Pro1569Arg)
c.4676C>G (p.Pro1559Arg)
c.4547C>G (p.Pro1516Arg)
c.4526C>G (p.Pro1509Arg)
n.4821C>G
6g.157201099C>TCA366241988ARID1Bc.4715C>T (p.Pro1572Leu)
c.4784C>T (p.Pro1595Leu)
c.5003C>T (p.Pro1668Leu)
c.4754C>T (p.Pro1585Leu)
c.4466C>T (p.Pro1489Leu)
c.3032C>T (p.Pro1011Leu)
c.2195C>T (p.Pro732Leu)
c.1826C>T (p.Pro609Leu)
n.3337C>T
n.794C>T
c.4874C>T (p.Pro1625Leu)
n.2871C>T
c.2242C>T
c.2156C>T
n.1540C>T
c.2216C>T (p.Pro739Leu)
c.2375C>T (p.Pro792Leu)
c.4505C>T (p.Pro1502Leu)
c.4625C>T (p.Pro1542Leu)
c.3704C>T (p.Pro1235Leu)
c.3524C>T (p.Pro1175Leu)
c.3284C>T (p.Pro1095Leu)
c.2903C>T (p.Pro968Leu)
c.1766C>T (p.Pro589Leu)
c.4835C>T (p.Pro1612Leu)
c.4736C>T (p.Pro1579Leu)
c.4706C>T (p.Pro1569Leu)
c.4676C>T (p.Pro1559Leu)
c.4547C>T (p.Pro1516Leu)
c.4526C>T (p.Pro1509Leu)
n.4821C>T
dbSNP
6g.157201100C>ACA452978041ARID1Bc.4716C>A (p.Pro1572=)
c.4785C>A (p.Pro1595=)
c.5004C>A (p.Pro1668=)
c.4755C>A (p.Pro1585=)
c.4467C>A (p.Pro1489=)
c.3033C>A (p.Pro1011=)
c.2196C>A (p.Pro732=)
c.1827C>A (p.Pro609=)
n.3338C>A
n.795C>A
c.4875C>A (p.Pro1625=)
n.2872C>A
c.2243C>A
c.2157C>A
n.1541C>A
c.2217C>A (p.Pro739=)
c.2376C>A (p.Pro792=)
c.4506C>A (p.Pro1502=)
c.4626C>A (p.Pro1542=)
c.3705C>A (p.Pro1235=)
c.3525C>A (p.Pro1175=)
c.3285C>A (p.Pro1095=)
c.2904C>A (p.Pro968=)
c.1767C>A (p.Pro589=)
c.4836C>A (p.Pro1612=)
c.4737C>A (p.Pro1579=)
c.4707C>A (p.Pro1569=)
c.4677C>A (p.Pro1559=)
c.4548C>A (p.Pro1516=)
c.4527C>A (p.Pro1509=)
n.4822C>A
6g.157201100C=CA1675522980ARID1Bc.4716C= (p.Pro1572=)
c.4785C= (p.Pro1595=)
c.5004C= (p.Pro1668=)
c.4755C= (p.Pro1585=)
c.4467C= (p.Pro1489=)
c.3033C= (p.Pro1011=)
c.2196C= (p.Pro732=)
c.1827C= (p.Pro609=)
n.3338C=
n.795C=
c.4875C= (p.Pro1625=)
n.2872C=
c.2243C=
c.2157C=
n.1541C=
c.2217C= (p.Pro739=)
c.2376C= (p.Pro792=)
c.4506C= (p.Pro1502=)
c.4626C= (p.Pro1542=)
c.3705C= (p.Pro1235=)
c.3525C= (p.Pro1175=)
c.3285C= (p.Pro1095=)
c.2904C= (p.Pro968=)
c.1767C= (p.Pro589=)
c.4836C= (p.Pro1612=)
c.4737C= (p.Pro1579=)
c.4707C= (p.Pro1569=)
c.4677C= (p.Pro1559=)
c.4548C= (p.Pro1516=)
c.4527C= (p.Pro1509=)
n.4822C=
6g.157201100C>GCA452978042ARID1Bc.4716C>G (p.Pro1572=)
c.4785C>G (p.Pro1595=)
c.5004C>G (p.Pro1668=)
c.4755C>G (p.Pro1585=)
c.4467C>G (p.Pro1489=)
c.3033C>G (p.Pro1011=)
c.2196C>G (p.Pro732=)
c.1827C>G (p.Pro609=)
n.3338C>G
n.795C>G
c.4875C>G (p.Pro1625=)
n.2872C>G
c.2243C>G
c.2157C>G
n.1541C>G
c.2217C>G (p.Pro739=)
c.2376C>G (p.Pro792=)
c.4506C>G (p.Pro1502=)
c.4626C>G (p.Pro1542=)
c.3705C>G (p.Pro1235=)
c.3525C>G (p.Pro1175=)
c.3285C>G (p.Pro1095=)
c.2904C>G (p.Pro968=)
c.1767C>G (p.Pro589=)
c.4836C>G (p.Pro1612=)
c.4737C>G (p.Pro1579=)
c.4707C>G (p.Pro1569=)
c.4677C>G (p.Pro1559=)
c.4548C>G (p.Pro1516=)
c.4527C>G (p.Pro1509=)
n.4822C>G
6g.157201100C>TCA4067728ARID1Bc.4716C>T (p.Pro1572=)
c.4785C>T (p.Pro1595=)
c.5004C>T (p.Pro1668=)
c.4755C>T (p.Pro1585=)
c.4467C>T (p.Pro1489=)
c.3033C>T (p.Pro1011=)
c.2196C>T (p.Pro732=)
c.1827C>T (p.Pro609=)
n.3338C>T
n.795C>T
c.4875C>T (p.Pro1625=)
n.2872C>T
c.2243C>T
c.2157C>T
n.1541C>T
c.2217C>T (p.Pro739=)
c.2376C>T (p.Pro792=)
c.4506C>T (p.Pro1502=)
c.4626C>T (p.Pro1542=)
c.3705C>T (p.Pro1235=)
c.3525C>T (p.Pro1175=)
c.3285C>T (p.Pro1095=)
c.2904C>T (p.Pro968=)
c.1767C>T (p.Pro589=)
c.4836C>T (p.Pro1612=)
c.4737C>T (p.Pro1579=)
c.4707C>T (p.Pro1569=)
c.4677C>T (p.Pro1559=)
c.4548C>T (p.Pro1516=)
c.4527C>T (p.Pro1509=)
n.4822C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.157201101G>ACA366241995ARID1Bc.4717G>A (p.Asp1573Asn)
c.4786G>A (p.Asp1596Asn)
c.5005G>A (p.Asp1669Asn)
c.4756G>A (p.Asp1586Asn)
c.4468G>A (p.Asp1490Asn)
c.3034G>A (p.Asp1012Asn)
c.2197G>A (p.Asp733Asn)
c.1828G>A (p.Asp610Asn)
n.3339G>A
n.796G>A
c.4876G>A (p.Asp1626Asn)
n.2873G>A
c.2244G>A
c.2158G>A
n.1542G>A
c.2218G>A (p.Asp740Asn)
c.2377G>A (p.Asp793Asn)
c.4507G>A (p.Asp1503Asn)
c.4627G>A (p.Asp1543Asn)
c.3706G>A (p.Asp1236Asn)
c.3526G>A (p.Asp1176Asn)
c.3286G>A (p.Asp1096Asn)
c.2905G>A (p.Asp969Asn)
c.1768G>A (p.Asp590Asn)
c.4837G>A (p.Asp1613Asn)
c.4738G>A (p.Asp1580Asn)
c.4708G>A (p.Asp1570Asn)
c.4678G>A (p.Asp1560Asn)
c.4549G>A (p.Asp1517Asn)
c.4528G>A (p.Asp1510Asn)
n.4823G>A
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.157201101G>CCA366241993ARID1Bc.4717G>C (p.Asp1573His)
c.4786G>C (p.Asp1596His)
c.5005G>C (p.Asp1669His)
c.4756G>C (p.Asp1586His)
c.4468G>C (p.Asp1490His)
c.3034G>C (p.Asp1012His)
c.2197G>C (p.Asp733His)
c.1828G>C (p.Asp610His)
n.3339G>C
n.796G>C
c.4876G>C (p.Asp1626His)
n.2873G>C
c.2244G>C
c.2158G>C
n.1542G>C
c.2218G>C (p.Asp740His)
c.2377G>C (p.Asp793His)
c.4507G>C (p.Asp1503His)
c.4627G>C (p.Asp1543His)
c.3706G>C (p.Asp1236His)
c.3526G>C (p.Asp1176His)
c.3286G>C (p.Asp1096His)
c.2905G>C (p.Asp969His)
c.1768G>C (p.Asp590His)
c.4837G>C (p.Asp1613His)
c.4738G>C (p.Asp1580His)
c.4708G>C (p.Asp1570His)
c.4678G>C (p.Asp1560His)
c.4549G>C (p.Asp1517His)
c.4528G>C (p.Asp1510His)
n.4823G>C
dbSNP
6g.157201101G=CA1675522982ARID1Bc.4717G= (p.Asp1573=)
c.4786G= (p.Asp1596=)
c.5005G= (p.Asp1669=)
c.4756G= (p.Asp1586=)
c.4468G= (p.Asp1490=)
c.3034G= (p.Asp1012=)
c.2197G= (p.Asp733=)
c.1828G= (p.Asp610=)
n.3339G=
n.796G=
c.4876G= (p.Asp1626=)
n.2873G=
c.2244G=
c.2158G=
n.1542G=
c.2218G= (p.Asp740=)
c.2377G= (p.Asp793=)
c.4507G= (p.Asp1503=)
c.4627G= (p.Asp1543=)
c.3706G= (p.Asp1236=)
c.3526G= (p.Asp1176=)
c.3286G= (p.Asp1096=)
c.2905G= (p.Asp969=)
c.1768G= (p.Asp590=)
c.4837G= (p.Asp1613=)
c.4738G= (p.Asp1580=)
c.4708G= (p.Asp1570=)
c.4678G= (p.Asp1560=)
c.4549G= (p.Asp1517=)
c.4528G= (p.Asp1510=)
n.4823G=
6g.157201101G>TCA366241997ARID1Bc.4717G>T (p.Asp1573Tyr)
c.4786G>T (p.Asp1596Tyr)
c.5005G>T (p.Asp1669Tyr)
c.4756G>T (p.Asp1586Tyr)
c.4468G>T (p.Asp1490Tyr)
c.3034G>T (p.Asp1012Tyr)
c.2197G>T (p.Asp733Tyr)
c.1828G>T (p.Asp610Tyr)
n.3339G>T
n.796G>T
c.4876G>T (p.Asp1626Tyr)
n.2873G>T
c.2244G>T
c.2158G>T
n.1542G>T
c.2218G>T (p.Asp740Tyr)
c.2377G>T (p.Asp793Tyr)
c.4507G>T (p.Asp1503Tyr)
c.4627G>T (p.Asp1543Tyr)
c.3706G>T (p.Asp1236Tyr)
c.3526G>T (p.Asp1176Tyr)
c.3286G>T (p.Asp1096Tyr)
c.2905G>T (p.Asp969Tyr)
c.1768G>T (p.Asp590Tyr)
c.4837G>T (p.Asp1613Tyr)
c.4738G>T (p.Asp1580Tyr)
c.4708G>T (p.Asp1570Tyr)
c.4678G>T (p.Asp1560Tyr)
c.4549G>T (p.Asp1517Tyr)
c.4528G>T (p.Asp1510Tyr)
n.4823G>T
6g.157201102A>CCA366241999ARID1Bc.4718A>C (p.Asp1573Ala)
c.4787A>C (p.Asp1596Ala)
c.5006A>C (p.Asp1669Ala)
c.4757A>C (p.Asp1586Ala)
c.4469A>C (p.Asp1490Ala)
c.3035A>C (p.Asp1012Ala)
c.2198A>C (p.Asp733Ala)
c.1829A>C (p.Asp610Ala)
n.3340A>C
n.797A>C
c.4877A>C (p.Asp1626Ala)
n.2874A>C
c.2245A>C
c.2159A>C
n.1543A>C
c.2219A>C (p.Asp740Ala)
c.2378A>C (p.Asp793Ala)
c.4508A>C (p.Asp1503Ala)
c.4628A>C (p.Asp1543Ala)
c.3707A>C (p.Asp1236Ala)
c.3527A>C (p.Asp1176Ala)
c.3287A>C (p.Asp1096Ala)
c.2906A>C (p.Asp969Ala)
c.1769A>C (p.Asp590Ala)
c.4838A>C (p.Asp1613Ala)
c.4739A>C (p.Asp1580Ala)
c.4709A>C (p.Asp1570Ala)
c.4679A>C (p.Asp1560Ala)
c.4550A>C (p.Asp1517Ala)
c.4529A>C (p.Asp1510Ala)
n.4824A>C
6g.157201102A>GCA366242000ARID1Bc.4718A>G (p.Asp1573Gly)
c.4787A>G (p.Asp1596Gly)
c.5006A>G (p.Asp1669Gly)
c.4757A>G (p.Asp1586Gly)
c.4469A>G (p.Asp1490Gly)
c.3035A>G (p.Asp1012Gly)
c.2198A>G (p.Asp733Gly)
c.1829A>G (p.Asp610Gly)
n.3340A>G
n.797A>G
c.4877A>G (p.Asp1626Gly)
n.2874A>G
c.2245A>G
c.2159A>G
n.1543A>G
c.2219A>G (p.Asp740Gly)
c.2378A>G (p.Asp793Gly)
c.4508A>G (p.Asp1503Gly)
c.4628A>G (p.Asp1543Gly)
c.3707A>G (p.Asp1236Gly)
c.3527A>G (p.Asp1176Gly)
c.3287A>G (p.Asp1096Gly)
c.2906A>G (p.Asp969Gly)
c.1769A>G (p.Asp590Gly)
c.4838A>G (p.Asp1613Gly)
c.4739A>G (p.Asp1580Gly)
c.4709A>G (p.Asp1570Gly)
c.4679A>G (p.Asp1560Gly)
c.4550A>G (p.Asp1517Gly)
c.4529A>G (p.Asp1510Gly)
n.4824A>G
6g.157201102A>TCA366242001ARID1Bc.4718A>T (p.Asp1573Val)
c.4787A>T (p.Asp1596Val)
c.5006A>T (p.Asp1669Val)
c.4757A>T (p.Asp1586Val)
c.4469A>T (p.Asp1490Val)
c.3035A>T (p.Asp1012Val)
c.2198A>T (p.Asp733Val)
c.1829A>T (p.Asp610Val)
n.3340A>T
n.797A>T
c.4877A>T (p.Asp1626Val)
n.2874A>T
c.2245A>T
c.2159A>T
n.1543A>T
c.2219A>T (p.Asp740Val)
c.2378A>T (p.Asp793Val)
c.4508A>T (p.Asp1503Val)
c.4628A>T (p.Asp1543Val)
c.3707A>T (p.Asp1236Val)
c.3527A>T (p.Asp1176Val)
c.3287A>T (p.Asp1096Val)
c.2906A>T (p.Asp969Val)
c.1769A>T (p.Asp590Val)
c.4838A>T (p.Asp1613Val)
c.4739A>T (p.Asp1580Val)
c.4709A>T (p.Asp1570Val)
c.4679A>T (p.Asp1560Val)
c.4550A>T (p.Asp1517Val)
c.4529A>T (p.Asp1510Val)
n.4824A>T
6g.157201103T>ACA366242002ARID1Bc.4719T>A (p.Asp1573Glu)
c.4788T>A (p.Asp1596Glu)
c.5007T>A (p.Asp1669Glu)
c.4758T>A (p.Asp1586Glu)
c.4470T>A (p.Asp1490Glu)
c.3036T>A (p.Asp1012Glu)
c.2199T>A (p.Asp733Glu)
c.1830T>A (p.Asp610Glu)
n.3341T>A
n.798T>A
c.4878T>A (p.Asp1626Glu)
n.2875T>A
c.2246T>A
c.2160T>A
n.1544T>A
c.2220T>A (p.Asp740Glu)
c.2379T>A (p.Asp793Glu)
c.4509T>A (p.Asp1503Glu)
c.4629T>A (p.Asp1543Glu)
c.3708T>A (p.Asp1236Glu)
c.3528T>A (p.Asp1176Glu)
c.3288T>A (p.Asp1096Glu)
c.2907T>A (p.Asp969Glu)
c.1770T>A (p.Asp590Glu)
c.4839T>A (p.Asp1613Glu)
c.4740T>A (p.Asp1580Glu)
c.4710T>A (p.Asp1570Glu)
c.4680T>A (p.Asp1560Glu)
c.4551T>A (p.Asp1517Glu)
c.4530T>A (p.Asp1510Glu)
n.4825T>A
6g.157201103T>CCA452978047ARID1Bc.4719T>C (p.Asp1573=)
c.4788T>C (p.Asp1596=)
c.5007T>C (p.Asp1669=)
c.4758T>C (p.Asp1586=)
c.4470T>C (p.Asp1490=)
c.3036T>C (p.Asp1012=)
c.2199T>C (p.Asp733=)
c.1830T>C (p.Asp610=)
n.3341T>C
n.798T>C
c.4878T>C (p.Asp1626=)
n.2875T>C
c.2246T>C
c.2160T>C
n.1544T>C
c.2220T>C (p.Asp740=)
c.2379T>C (p.Asp793=)
c.4509T>C (p.Asp1503=)
c.4629T>C (p.Asp1543=)
c.3708T>C (p.Asp1236=)
c.3528T>C (p.Asp1176=)
c.3288T>C (p.Asp1096=)
c.2907T>C (p.Asp969=)
c.1770T>C (p.Asp590=)
c.4839T>C (p.Asp1613=)
c.4740T>C (p.Asp1580=)
c.4710T>C (p.Asp1570=)
c.4680T>C (p.Asp1560=)
c.4551T>C (p.Asp1517=)
c.4530T>C (p.Asp1510=)
n.4825T>C
dbSNP
6g.157201103T>GCA366242003ARID1Bc.4719T>G (p.Asp1573Glu)
c.4788T>G (p.Asp1596Glu)
c.5007T>G (p.Asp1669Glu)
c.4758T>G (p.Asp1586Glu)
c.4470T>G (p.Asp1490Glu)
c.3036T>G (p.Asp1012Glu)
c.2199T>G (p.Asp733Glu)
c.1830T>G (p.Asp610Glu)
n.3341T>G
n.798T>G
c.4878T>G (p.Asp1626Glu)
n.2875T>G
c.2246T>G
c.2160T>G
n.1544T>G
c.2220T>G (p.Asp740Glu)
c.2379T>G (p.Asp793Glu)
c.4509T>G (p.Asp1503Glu)
c.4629T>G (p.Asp1543Glu)
c.3708T>G (p.Asp1236Glu)
c.3528T>G (p.Asp1176Glu)
c.3288T>G (p.Asp1096Glu)
c.2907T>G (p.Asp969Glu)
c.1770T>G (p.Asp590Glu)
c.4839T>G (p.Asp1613Glu)
c.4740T>G (p.Asp1580Glu)
c.4710T>G (p.Asp1570Glu)
c.4680T>G (p.Asp1560Glu)
c.4551T>G (p.Asp1517Glu)
c.4530T>G (p.Asp1510Glu)
n.4825T>G
6g.157201103T=CA1675522984ARID1Bc.4719T= (p.Asp1573=)
c.4788T= (p.Asp1596=)
c.5007T= (p.Asp1669=)
c.4758T= (p.Asp1586=)
c.4470T= (p.Asp1490=)
c.3036T= (p.Asp1012=)
c.2199T= (p.Asp733=)
c.1830T= (p.Asp610=)
n.3341T=
n.798T=
c.4878T= (p.Asp1626=)
n.2875T=
c.2246T=
c.2160T=
n.1544T=
c.2220T= (p.Asp740=)
c.2379T= (p.Asp793=)
c.4509T= (p.Asp1503=)
c.4629T= (p.Asp1543=)
c.3708T= (p.Asp1236=)
c.3528T= (p.Asp1176=)
c.3288T= (p.Asp1096=)
c.2907T= (p.Asp969=)
c.1770T= (p.Asp590=)
c.4839T= (p.Asp1613=)
c.4740T= (p.Asp1580=)
c.4710T= (p.Asp1570=)
c.4680T= (p.Asp1560=)
c.4551T= (p.Asp1517=)
c.4530T= (p.Asp1510=)
n.4825T=
6g.157201104C>ACA366242004ARID1Bc.4720C>A (p.Gln1574Lys)
c.4789C>A (p.Gln1597Lys)
c.5008C>A (p.Gln1670Lys)
c.4759C>A (p.Gln1587Lys)
c.4471C>A (p.Gln1491Lys)
c.3037C>A (p.Gln1013Lys)
c.2200C>A (p.Gln734Lys)
c.1831C>A (p.Gln611Lys)
n.3342C>A
n.799C>A
c.4879C>A (p.Gln1627Lys)
n.2876C>A
c.2247C>A
c.2161C>A
n.1545C>A
c.2221C>A (p.Gln741Lys)
c.2380C>A (p.Gln794Lys)
c.4510C>A (p.Gln1504Lys)
c.4630C>A (p.Gln1544Lys)
c.3709C>A (p.Gln1237Lys)
c.3529C>A (p.Gln1177Lys)
c.3289C>A (p.Gln1097Lys)
c.2908C>A (p.Gln970Lys)
c.1771C>A (p.Gln591Lys)
c.4840C>A (p.Gln1614Lys)
c.4741C>A (p.Gln1581Lys)
c.4711C>A (p.Gln1571Lys)
c.4681C>A (p.Gln1561Lys)
c.4552C>A (p.Gln1518Lys)
c.4531C>A (p.Gln1511Lys)
n.4826C>A
6g.157201104C=CA1675522986ARID1Bc.4720C= (p.Gln1574=)
c.4789C= (p.Gln1597=)
c.5008C= (p.Gln1670=)
c.4759C= (p.Gln1587=)
c.4471C= (p.Gln1491=)
c.3037C= (p.Gln1013=)
c.2200C= (p.Gln734=)
c.1831C= (p.Gln611=)
n.3342C=
n.799C=
c.4879C= (p.Gln1627=)
n.2876C=
c.2247C=
c.2161C=
n.1545C=
c.2221C= (p.Gln741=)
c.2380C= (p.Gln794=)
c.4510C= (p.Gln1504=)
c.4630C= (p.Gln1544=)
c.3709C= (p.Gln1237=)
c.3529C= (p.Gln1177=)
c.3289C= (p.Gln1097=)
c.2908C= (p.Gln970=)
c.1771C= (p.Gln591=)
c.4840C= (p.Gln1614=)
c.4741C= (p.Gln1581=)
c.4711C= (p.Gln1571=)
c.4681C= (p.Gln1561=)
c.4552C= (p.Gln1518=)
c.4531C= (p.Gln1511=)
n.4826C=
6g.157201104C>GCA366242005ARID1Bc.4720C>G (p.Gln1574Glu)
c.4789C>G (p.Gln1597Glu)
c.5008C>G (p.Gln1670Glu)
c.4759C>G (p.Gln1587Glu)
c.4471C>G (p.Gln1491Glu)
c.3037C>G (p.Gln1013Glu)
c.2200C>G (p.Gln734Glu)
c.1831C>G (p.Gln611Glu)
n.3342C>G
n.799C>G
c.4879C>G (p.Gln1627Glu)
n.2876C>G
c.2247C>G
c.2161C>G
n.1545C>G
c.2221C>G (p.Gln741Glu)
c.2380C>G (p.Gln794Glu)
c.4510C>G (p.Gln1504Glu)
c.4630C>G (p.Gln1544Glu)
c.3709C>G (p.Gln1237Glu)
c.3529C>G (p.Gln1177Glu)
c.3289C>G (p.Gln1097Glu)
c.2908C>G (p.Gln970Glu)
c.1771C>G (p.Gln591Glu)
c.4840C>G (p.Gln1614Glu)
c.4741C>G (p.Gln1581Glu)
c.4711C>G (p.Gln1571Glu)
c.4681C>G (p.Gln1561Glu)
c.4552C>G (p.Gln1518Glu)
c.4531C>G (p.Gln1511Glu)
n.4826C>G
dbSNP gnomAD v4
6g.157201104C>TCA366242006ARID1Bc.4720C>T (p.Gln1574Ter)
c.4789C>T (p.Gln1597Ter)
c.5008C>T (p.Gln1670Ter)
c.4759C>T (p.Gln1587Ter)
c.4471C>T (p.Gln1491Ter)
c.3037C>T (p.Gln1013Ter)
c.2200C>T (p.Gln734Ter)
c.1831C>T (p.Gln611Ter)
n.3342C>T
n.799C>T
c.4879C>T (p.Gln1627Ter)
n.2876C>T
c.2247C>T
c.2161C>T
n.1545C>T
c.2221C>T (p.Gln741Ter)
c.2380C>T (p.Gln794Ter)
c.4510C>T (p.Gln1504Ter)
c.4630C>T (p.Gln1544Ter)
c.3709C>T (p.Gln1237Ter)
c.3529C>T (p.Gln1177Ter)
c.3289C>T (p.Gln1097Ter)
c.2908C>T (p.Gln970Ter)
c.1771C>T (p.Gln591Ter)
c.4840C>T (p.Gln1614Ter)
c.4741C>T (p.Gln1581Ter)
c.4711C>T (p.Gln1571Ter)
c.4681C>T (p.Gln1561Ter)
c.4552C>T (p.Gln1518Ter)
c.4531C>T (p.Gln1511Ter)
n.4826C>T
dbSNP
6g.157201105A>CCA366242007ARID1Bc.4721A>C (p.Gln1574Pro)
c.4790A>C (p.Gln1597Pro)
c.5009A>C (p.Gln1670Pro)
c.4760A>C (p.Gln1587Pro)
c.4472A>C (p.Gln1491Pro)
c.3038A>C (p.Gln1013Pro)
c.2201A>C (p.Gln734Pro)
c.1832A>C (p.Gln611Pro)
n.3343A>C
n.800A>C
c.4880A>C (p.Gln1627Pro)
n.2877A>C
c.2248A>C
c.2162A>C
n.1546A>C
c.2222A>C (p.Gln741Pro)
c.2381A>C (p.Gln794Pro)
c.4511A>C (p.Gln1504Pro)
c.4631A>C (p.Gln1544Pro)
c.3710A>C (p.Gln1237Pro)
c.3530A>C (p.Gln1177Pro)
c.3290A>C (p.Gln1097Pro)
c.2909A>C (p.Gln970Pro)
c.1772A>C (p.Gln591Pro)
c.4841A>C (p.Gln1614Pro)
c.4742A>C (p.Gln1581Pro)
c.4712A>C (p.Gln1571Pro)
c.4682A>C (p.Gln1561Pro)
c.4553A>C (p.Gln1518Pro)
c.4532A>C (p.Gln1511Pro)
n.4827A>C
6g.157201105A>GCA366242008ARID1Bc.4721A>G (p.Gln1574Arg)
c.4790A>G (p.Gln1597Arg)
c.5009A>G (p.Gln1670Arg)
c.4760A>G (p.Gln1587Arg)
c.4472A>G (p.Gln1491Arg)
c.3038A>G (p.Gln1013Arg)
c.2201A>G (p.Gln734Arg)
c.1832A>G (p.Gln611Arg)
n.3343A>G
n.800A>G
c.4880A>G (p.Gln1627Arg)
n.2877A>G
c.2248A>G
c.2162A>G
n.1546A>G
c.2222A>G (p.Gln741Arg)
c.2381A>G (p.Gln794Arg)
c.4511A>G (p.Gln1504Arg)
c.4631A>G (p.Gln1544Arg)
c.3710A>G (p.Gln1237Arg)
c.3530A>G (p.Gln1177Arg)
c.3290A>G (p.Gln1097Arg)
c.2909A>G (p.Gln970Arg)
c.1772A>G (p.Gln591Arg)
c.4841A>G (p.Gln1614Arg)
c.4742A>G (p.Gln1581Arg)
c.4712A>G (p.Gln1571Arg)
c.4682A>G (p.Gln1561Arg)
c.4553A>G (p.Gln1518Arg)
c.4532A>G (p.Gln1511Arg)
n.4827A>G
6g.157201105A>TCA366242009ARID1Bc.4721A>T (p.Gln1574Leu)
c.4790A>T (p.Gln1597Leu)
c.5009A>T (p.Gln1670Leu)
c.4760A>T (p.Gln1587Leu)
c.4472A>T (p.Gln1491Leu)
c.3038A>T (p.Gln1013Leu)
c.2201A>T (p.Gln734Leu)
c.1832A>T (p.Gln611Leu)
n.3343A>T
n.800A>T
c.4880A>T (p.Gln1627Leu)
n.2877A>T
c.2248A>T
c.2162A>T
n.1546A>T
c.2222A>T (p.Gln741Leu)
c.2381A>T (p.Gln794Leu)
c.4511A>T (p.Gln1504Leu)
c.4631A>T (p.Gln1544Leu)
c.3710A>T (p.Gln1237Leu)
c.3530A>T (p.Gln1177Leu)
c.3290A>T (p.Gln1097Leu)
c.2909A>T (p.Gln970Leu)
c.1772A>T (p.Gln591Leu)
c.4841A>T (p.Gln1614Leu)
c.4742A>T (p.Gln1581Leu)
c.4712A>T (p.Gln1571Leu)
c.4682A>T (p.Gln1561Leu)
c.4553A>T (p.Gln1518Leu)
c.4532A>T (p.Gln1511Leu)
n.4827A>T
6g.157201106G>ACA452978050ARID1Bc.4722G>A (p.Gln1574=)
c.4791G>A (p.Gln1597=)
c.5010G>A (p.Gln1670=)
c.4761G>A (p.Gln1587=)
c.4473G>A (p.Gln1491=)
c.3039G>A (p.Gln1013=)
c.2202G>A (p.Gln734=)
c.1833G>A (p.Gln611=)
n.3344G>A
n.801G>A
c.4881G>A (p.Gln1627=)
n.2878G>A
c.2249G>A
c.2163G>A
n.1547G>A
c.2223G>A (p.Gln741=)
c.2382G>A (p.Gln794=)
c.4512G>A (p.Gln1504=)
c.4632G>A (p.Gln1544=)
c.3711G>A (p.Gln1237=)
c.3531G>A (p.Gln1177=)
c.3291G>A (p.Gln1097=)
c.2910G>A (p.Gln970=)
c.1773G>A (p.Gln591=)
c.4842G>A (p.Gln1614=)
c.4743G>A (p.Gln1581=)
c.4713G>A (p.Gln1571=)
c.4683G>A (p.Gln1561=)
c.4554G>A (p.Gln1518=)
c.4533G>A (p.Gln1511=)
n.4828G>A
dbSNP gnomAD v2
6g.157201106G>CCA366242010ARID1Bc.4722G>C (p.Gln1574His)
c.4791G>C (p.Gln1597His)
c.5010G>C (p.Gln1670His)
c.4761G>C (p.Gln1587His)
c.4473G>C (p.Gln1491His)
c.3039G>C (p.Gln1013His)
c.2202G>C (p.Gln734His)
c.1833G>C (p.Gln611His)
n.3344G>C
n.801G>C
c.4881G>C (p.Gln1627His)
n.2878G>C
c.2249G>C
c.2163G>C
n.1547G>C
c.2223G>C (p.Gln741His)
c.2382G>C (p.Gln794His)
c.4512G>C (p.Gln1504His)
c.4632G>C (p.Gln1544His)
c.3711G>C (p.Gln1237His)
c.3531G>C (p.Gln1177His)
c.3291G>C (p.Gln1097His)
c.2910G>C (p.Gln970His)
c.1773G>C (p.Gln591His)
c.4842G>C (p.Gln1614His)
c.4743G>C (p.Gln1581His)
c.4713G>C (p.Gln1571His)
c.4683G>C (p.Gln1561His)
c.4554G>C (p.Gln1518His)
c.4533G>C (p.Gln1511His)
n.4828G>C
6g.157201106G=CA1675522989ARID1Bc.4722G= (p.Gln1574=)
c.4791G= (p.Gln1597=)
c.5010G= (p.Gln1670=)
c.4761G= (p.Gln1587=)
c.4473G= (p.Gln1491=)
c.3039G= (p.Gln1013=)
c.2202G= (p.Gln734=)
c.1833G= (p.Gln611=)
n.3344G=
n.801G=
c.4881G= (p.Gln1627=)
n.2878G=
c.2249G=
c.2163G=
n.1547G=
c.2223G= (p.Gln741=)
c.2382G= (p.Gln794=)
c.4512G= (p.Gln1504=)
c.4632G= (p.Gln1544=)
c.3711G= (p.Gln1237=)
c.3531G= (p.Gln1177=)
c.3291G= (p.Gln1097=)
c.2910G= (p.Gln970=)
c.1773G= (p.Gln591=)
c.4842G= (p.Gln1614=)
c.4743G= (p.Gln1581=)
c.4713G= (p.Gln1571=)
c.4683G= (p.Gln1561=)
c.4554G= (p.Gln1518=)
c.4533G= (p.Gln1511=)
n.4828G=
6g.157201106G>TCA366242011ARID1Bc.4722G>T (p.Gln1574His)
c.4791G>T (p.Gln1597His)
c.5010G>T (p.Gln1670His)
c.4761G>T (p.Gln1587His)
c.4473G>T (p.Gln1491His)
c.3039G>T (p.Gln1013His)
c.2202G>T (p.Gln734His)
c.1833G>T (p.Gln611His)
n.3344G>T
n.801G>T
c.4881G>T (p.Gln1627His)
n.2878G>T
c.2249G>T
c.2163G>T
n.1547G>T
c.2223G>T (p.Gln741His)
c.2382G>T (p.Gln794His)
c.4512G>T (p.Gln1504His)
c.4632G>T (p.Gln1544His)
c.3711G>T (p.Gln1237His)
c.3531G>T (p.Gln1177His)
c.3291G>T (p.Gln1097His)
c.2910G>T (p.Gln970His)
c.1773G>T (p.Gln591His)
c.4842G>T (p.Gln1614His)
c.4743G>T (p.Gln1581His)
c.4713G>T (p.Gln1571His)
c.4683G>T (p.Gln1561His)
c.4554G>T (p.Gln1518His)
c.4533G>T (p.Gln1511His)
n.4828G>T
6g.157201107A>CCA452978051ARID1Bc.4723A>C (p.Arg1575=)
c.4792A>C (p.Arg1598=)
c.5011A>C (p.Arg1671=)
c.4762A>C (p.Arg1588=)
c.4474A>C (p.Arg1492=)
c.3040A>C (p.Arg1014=)
c.2203A>C (p.Arg735=)
c.1834A>C (p.Arg612=)
n.3345A>C
n.802A>C
c.4882A>C (p.Arg1628=)
n.2879A>C
c.2250A>C
c.2164A>C
n.1548A>C
c.2224A>C (p.Arg742=)
c.2383A>C (p.Arg795=)
c.4513A>C (p.Arg1505=)
c.4633A>C (p.Arg1545=)
c.3712A>C (p.Arg1238=)
c.3532A>C (p.Arg1178=)
c.3292A>C (p.Arg1098=)
c.2911A>C (p.Arg971=)
c.1774A>C (p.Arg592=)
c.4843A>C (p.Arg1615=)
c.4744A>C (p.Arg1582=)
c.4714A>C (p.Arg1572=)
c.4684A>C (p.Arg1562=)
c.4555A>C (p.Arg1519=)
c.4534A>C (p.Arg1512=)
n.4829A>C
6g.157201107A>GCA366242012ARID1Bc.4723A>G (p.Arg1575Gly)
c.4792A>G (p.Arg1598Gly)
c.5011A>G (p.Arg1671Gly)
c.4762A>G (p.Arg1588Gly)
c.4474A>G (p.Arg1492Gly)
c.3040A>G (p.Arg1014Gly)
c.2203A>G (p.Arg735Gly)
c.1834A>G (p.Arg612Gly)
n.3345A>G
n.802A>G
c.4882A>G (p.Arg1628Gly)
n.2879A>G
c.2250A>G
c.2164A>G
n.1548A>G
c.2224A>G (p.Arg742Gly)
c.2383A>G (p.Arg795Gly)
c.4513A>G (p.Arg1505Gly)
c.4633A>G (p.Arg1545Gly)
c.3712A>G (p.Arg1238Gly)
c.3532A>G (p.Arg1178Gly)
c.3292A>G (p.Arg1098Gly)
c.2911A>G (p.Arg971Gly)
c.1774A>G (p.Arg592Gly)
c.4843A>G (p.Arg1615Gly)
c.4744A>G (p.Arg1582Gly)
c.4714A>G (p.Arg1572Gly)
c.4684A>G (p.Arg1562Gly)
c.4555A>G (p.Arg1519Gly)
c.4534A>G (p.Arg1512Gly)
n.4829A>G
gnomAD v4
6g.157201107A>TCA366242013ARID1Bc.4723A>T (p.Arg1575Trp)
c.4792A>T (p.Arg1598Trp)
c.5011A>T (p.Arg1671Trp)
c.4762A>T (p.Arg1588Trp)
c.4474A>T (p.Arg1492Trp)
c.3040A>T (p.Arg1014Trp)
c.2203A>T (p.Arg735Trp)
c.1834A>T (p.Arg612Trp)
n.3345A>T
n.802A>T
c.4882A>T (p.Arg1628Trp)
n.2879A>T
c.2250A>T
c.2164A>T
n.1548A>T
c.2224A>T (p.Arg742Trp)
c.2383A>T (p.Arg795Trp)
c.4513A>T (p.Arg1505Trp)
c.4633A>T (p.Arg1545Trp)
c.3712A>T (p.Arg1238Trp)
c.3532A>T (p.Arg1178Trp)
c.3292A>T (p.Arg1098Trp)
c.2911A>T (p.Arg971Trp)
c.1774A>T (p.Arg592Trp)
c.4843A>T (p.Arg1615Trp)
c.4744A>T (p.Arg1582Trp)
c.4714A>T (p.Arg1572Trp)
c.4684A>T (p.Arg1562Trp)
c.4555A>T (p.Arg1519Trp)
c.4534A>T (p.Arg1512Trp)
n.4829A>T
6g.157201108G>ACA366242014ARID1Bc.4724G>A (p.Arg1575Lys)
c.4793G>A (p.Arg1598Lys)
c.5012G>A (p.Arg1671Lys)
c.4763G>A (p.Arg1588Lys)
c.4475G>A (p.Arg1492Lys)
c.3041G>A (p.Arg1014Lys)
c.2204G>A (p.Arg735Lys)
c.1835G>A (p.Arg612Lys)
n.3346G>A
n.803G>A
c.4883G>A (p.Arg1628Lys)
n.2880G>A
c.2251G>A
c.2165G>A
n.1549G>A
c.2225G>A (p.Arg742Lys)
c.2384G>A (p.Arg795Lys)
c.4514G>A (p.Arg1505Lys)
c.4634G>A (p.Arg1545Lys)
c.3713G>A (p.Arg1238Lys)
c.3533G>A (p.Arg1178Lys)
c.3293G>A (p.Arg1098Lys)
c.2912G>A (p.Arg971Lys)
c.1775G>A (p.Arg592Lys)
c.4844G>A (p.Arg1615Lys)
c.4745G>A (p.Arg1582Lys)
c.4715G>A (p.Arg1572Lys)
c.4685G>A (p.Arg1562Lys)
c.4556G>A (p.Arg1519Lys)
c.4535G>A (p.Arg1512Lys)
n.4830G>A
dbSNP
6g.157201108G>CCA366242015ARID1Bc.4724G>C (p.Arg1575Thr)
c.4793G>C (p.Arg1598Thr)
c.5012G>C (p.Arg1671Thr)
c.4763G>C (p.Arg1588Thr)
c.4475G>C (p.Arg1492Thr)
c.3041G>C (p.Arg1014Thr)
c.2204G>C (p.Arg735Thr)
c.1835G>C (p.Arg612Thr)
n.3346G>C
n.803G>C
c.4883G>C (p.Arg1628Thr)
n.2880G>C
c.2251G>C
c.2165G>C
n.1549G>C
c.2225G>C (p.Arg742Thr)
c.2384G>C (p.Arg795Thr)
c.4514G>C (p.Arg1505Thr)
c.4634G>C (p.Arg1545Thr)
c.3713G>C (p.Arg1238Thr)
c.3533G>C (p.Arg1178Thr)
c.3293G>C (p.Arg1098Thr)
c.2912G>C (p.Arg971Thr)
c.1775G>C (p.Arg592Thr)
c.4844G>C (p.Arg1615Thr)
c.4745G>C (p.Arg1582Thr)
c.4715G>C (p.Arg1572Thr)
c.4685G>C (p.Arg1562Thr)
c.4556G>C (p.Arg1519Thr)
c.4535G>C (p.Arg1512Thr)
n.4830G>C
6g.157201108G>TCA366242016ARID1Bc.4724G>T (p.Arg1575Met)
c.4793G>T (p.Arg1598Met)
c.5012G>T (p.Arg1671Met)
c.4763G>T (p.Arg1588Met)
c.4475G>T (p.Arg1492Met)
c.3041G>T (p.Arg1014Met)
c.2204G>T (p.Arg735Met)
c.1835G>T (p.Arg612Met)
n.3346G>T
n.803G>T
c.4883G>T (p.Arg1628Met)
n.2880G>T
c.2251G>T
c.2165G>T
n.1549G>T
c.2225G>T (p.Arg742Met)
c.2384G>T (p.Arg795Met)
c.4514G>T (p.Arg1505Met)
c.4634G>T (p.Arg1545Met)
c.3713G>T (p.Arg1238Met)
c.3533G>T (p.Arg1178Met)
c.3293G>T (p.Arg1098Met)
c.2912G>T (p.Arg971Met)
c.1775G>T (p.Arg592Met)
c.4844G>T (p.Arg1615Met)
c.4745G>T (p.Arg1582Met)
c.4715G>T (p.Arg1572Met)
c.4685G>T (p.Arg1562Met)
c.4556G>T (p.Arg1519Met)
c.4535G>T (p.Arg1512Met)
n.4830G>T
6g.157201109G>ACA452978054ARID1Bc.4725G>A (p.Arg1575=)
c.4794G>A (p.Arg1598=)
c.5013G>A (p.Arg1671=)
c.4764G>A (p.Arg1588=)
c.4476G>A (p.Arg1492=)
c.3042G>A (p.Arg1014=)
c.2205G>A (p.Arg735=)
c.1836G>A (p.Arg612=)
n.3347G>A
n.804G>A
c.4884G>A (p.Arg1628=)
n.2881G>A
c.2252G>A
c.2166G>A
n.1550G>A
c.2226G>A (p.Arg742=)
c.2385G>A (p.Arg795=)
c.4515G>A (p.Arg1505=)
c.4635G>A (p.Arg1545=)
c.3714G>A (p.Arg1238=)
c.3534G>A (p.Arg1178=)
c.3294G>A (p.Arg1098=)
c.2913G>A (p.Arg971=)
c.1776G>A (p.Arg592=)
c.4845G>A (p.Arg1615=)
c.4746G>A (p.Arg1582=)
c.4716G>A (p.Arg1572=)
c.4686G>A (p.Arg1562=)
c.4557G>A (p.Arg1519=)
c.4536G>A (p.Arg1512=)
n.4831G>A
6g.157201109G>CCA366242017ARID1Bc.4725G>C (p.Arg1575Ser)
c.4794G>C (p.Arg1598Ser)
c.5013G>C (p.Arg1671Ser)
c.4764G>C (p.Arg1588Ser)
c.4476G>C (p.Arg1492Ser)
c.3042G>C (p.Arg1014Ser)
c.2205G>C (p.Arg735Ser)
c.1836G>C (p.Arg612Ser)
n.3347G>C
n.804G>C
c.4884G>C (p.Arg1628Ser)
n.2881G>C
c.2252G>C
c.2166G>C
n.1550G>C
c.2226G>C (p.Arg742Ser)
c.2385G>C (p.Arg795Ser)
c.4515G>C (p.Arg1505Ser)
c.4635G>C (p.Arg1545Ser)
c.3714G>C (p.Arg1238Ser)
c.3534G>C (p.Arg1178Ser)
c.3294G>C (p.Arg1098Ser)
c.2913G>C (p.Arg971Ser)
c.1776G>C (p.Arg592Ser)
c.4845G>C (p.Arg1615Ser)
c.4746G>C (p.Arg1582Ser)
c.4716G>C (p.Arg1572Ser)
c.4686G>C (p.Arg1562Ser)
c.4557G>C (p.Arg1519Ser)
c.4536G>C (p.Arg1512Ser)
n.4831G>C
dbSNP
6g.157201109G>TCA366242018ARID1Bc.4725G>T (p.Arg1575Ser)
c.4794G>T (p.Arg1598Ser)
c.5013G>T (p.Arg1671Ser)
c.4764G>T (p.Arg1588Ser)
c.4476G>T (p.Arg1492Ser)
c.3042G>T (p.Arg1014Ser)
c.2205G>T (p.Arg735Ser)
c.1836G>T (p.Arg612Ser)
n.3347G>T
n.804G>T
c.4884G>T (p.Arg1628Ser)
n.2881G>T
c.2252G>T
c.2166G>T
n.1550G>T
c.2226G>T (p.Arg742Ser)
c.2385G>T (p.Arg795Ser)
c.4515G>T (p.Arg1505Ser)
c.4635G>T (p.Arg1545Ser)
c.3714G>T (p.Arg1238Ser)
c.3534G>T (p.Arg1178Ser)
c.3294G>T (p.Arg1098Ser)
c.2913G>T (p.Arg971Ser)
c.1776G>T (p.Arg592Ser)
c.4845G>T (p.Arg1615Ser)
c.4746G>T (p.Arg1582Ser)
c.4716G>T (p.Arg1572Ser)
c.4686G>T (p.Arg1562Ser)
c.4557G>T (p.Arg1519Ser)
c.4536G>T (p.Arg1512Ser)
n.4831G>T
6g.157201110A>CCA366242019ARID1Bc.4726A>C (p.Ile1576Leu)
c.4795A>C (p.Ile1599Leu)
c.5014A>C (p.Ile1672Leu)
c.4765A>C (p.Ile1589Leu)
c.4477A>C (p.Ile1493Leu)
c.3043A>C (p.Ile1015Leu)
c.2206A>C (p.Ile736Leu)
c.1837A>C (p.Ile613Leu)
n.3348A>C
n.805A>C
c.4885A>C (p.Ile1629Leu)
n.2882A>C
c.2253A>C
c.2167A>C
n.1551A>C
c.2227A>C (p.Ile743Leu)
c.2386A>C (p.Ile796Leu)
c.4516A>C (p.Ile1506Leu)
c.4636A>C (p.Ile1546Leu)
c.3715A>C (p.Ile1239Leu)
c.3535A>C (p.Ile1179Leu)
c.3295A>C (p.Ile1099Leu)
c.2914A>C (p.Ile972Leu)
c.1777A>C (p.Ile593Leu)
c.4846A>C (p.Ile1616Leu)
c.4747A>C (p.Ile1583Leu)
c.4717A>C (p.Ile1573Leu)
c.4687A>C (p.Ile1563Leu)
c.4558A>C (p.Ile1520Leu)
c.4537A>C (p.Ile1513Leu)
n.4832A>C
6g.157201110A>GCA366242020ARID1Bc.4726A>G (p.Ile1576Val)
c.4795A>G (p.Ile1599Val)
c.5014A>G (p.Ile1672Val)
c.4765A>G (p.Ile1589Val)
c.4477A>G (p.Ile1493Val)
c.3043A>G (p.Ile1015Val)
c.2206A>G (p.Ile736Val)
c.1837A>G (p.Ile613Val)
n.3348A>G
n.805A>G
c.4885A>G (p.Ile1629Val)
n.2882A>G
c.2253A>G
c.2167A>G
n.1551A>G
c.2227A>G (p.Ile743Val)
c.2386A>G (p.Ile796Val)
c.4516A>G (p.Ile1506Val)
c.4636A>G (p.Ile1546Val)
c.3715A>G (p.Ile1239Val)
c.3535A>G (p.Ile1179Val)
c.3295A>G (p.Ile1099Val)
c.2914A>G (p.Ile972Val)
c.1777A>G (p.Ile593Val)
c.4846A>G (p.Ile1616Val)
c.4747A>G (p.Ile1583Val)
c.4717A>G (p.Ile1573Val)
c.4687A>G (p.Ile1563Val)
c.4558A>G (p.Ile1520Val)
c.4537A>G (p.Ile1513Val)
n.4832A>G
6g.157201110A>TCA366242021ARID1Bc.4726A>T (p.Ile1576Leu)
c.4795A>T (p.Ile1599Leu)
c.5014A>T (p.Ile1672Leu)
c.4765A>T (p.Ile1589Leu)
c.4477A>T (p.Ile1493Leu)
c.3043A>T (p.Ile1015Leu)
c.2206A>T (p.Ile736Leu)
c.1837A>T (p.Ile613Leu)
n.3348A>T
n.805A>T
c.4885A>T (p.Ile1629Leu)
n.2882A>T
c.2253A>T
c.2167A>T
n.1551A>T
c.2227A>T (p.Ile743Leu)
c.2386A>T (p.Ile796Leu)
c.4516A>T (p.Ile1506Leu)
c.4636A>T (p.Ile1546Leu)
c.3715A>T (p.Ile1239Leu)
c.3535A>T (p.Ile1179Leu)
c.3295A>T (p.Ile1099Leu)
c.2914A>T (p.Ile972Leu)
c.1777A>T (p.Ile593Leu)
c.4846A>T (p.Ile1616Leu)
c.4747A>T (p.Ile1583Leu)
c.4717A>T (p.Ile1573Leu)
c.4687A>T (p.Ile1563Leu)
c.4558A>T (p.Ile1520Leu)
c.4537A>T (p.Ile1513Leu)
n.4832A>T
gnomAD v4
6g.157201111T>ACA366242022ARID1Bc.4727T>A (p.Ile1576Lys)
c.4796T>A (p.Ile1599Lys)
c.5015T>A (p.Ile1672Lys)
c.4766T>A (p.Ile1589Lys)
c.4478T>A (p.Ile1493Lys)
c.3044T>A (p.Ile1015Lys)
c.2207T>A (p.Ile736Lys)
c.1838T>A (p.Ile613Lys)
n.3349T>A
n.806T>A
c.4886T>A (p.Ile1629Lys)
n.2883T>A
c.2254T>A
c.2168T>A
n.1552T>A
c.2228T>A (p.Ile743Lys)
c.2387T>A (p.Ile796Lys)
c.4517T>A (p.Ile1506Lys)
c.4637T>A (p.Ile1546Lys)
c.3716T>A (p.Ile1239Lys)
c.3536T>A (p.Ile1179Lys)
c.3296T>A (p.Ile1099Lys)
c.2915T>A (p.Ile972Lys)
c.1778T>A (p.Ile593Lys)
c.4847T>A (p.Ile1616Lys)
c.4748T>A (p.Ile1583Lys)
c.4718T>A (p.Ile1573Lys)
c.4688T>A (p.Ile1563Lys)
c.4559T>A (p.Ile1520Lys)
c.4538T>A (p.Ile1513Lys)
n.4833T>A
dbSNP gnomAD v4
6g.157201111T>CCA366242023ARID1Bc.4727T>C (p.Ile1576Thr)
c.4796T>C (p.Ile1599Thr)
c.5015T>C (p.Ile1672Thr)
c.4766T>C (p.Ile1589Thr)
c.4478T>C (p.Ile1493Thr)
c.3044T>C (p.Ile1015Thr)
c.2207T>C (p.Ile736Thr)
c.1838T>C (p.Ile613Thr)
n.3349T>C
n.806T>C
c.4886T>C (p.Ile1629Thr)
n.2883T>C
c.2254T>C
c.2168T>C
n.1552T>C
c.2228T>C (p.Ile743Thr)
c.2387T>C (p.Ile796Thr)
c.4517T>C (p.Ile1506Thr)
c.4637T>C (p.Ile1546Thr)
c.3716T>C (p.Ile1239Thr)
c.3536T>C (p.Ile1179Thr)
c.3296T>C (p.Ile1099Thr)
c.2915T>C (p.Ile972Thr)
c.1778T>C (p.Ile593Thr)
c.4847T>C (p.Ile1616Thr)
c.4748T>C (p.Ile1583Thr)
c.4718T>C (p.Ile1573Thr)
c.4688T>C (p.Ile1563Thr)
c.4559T>C (p.Ile1520Thr)
c.4538T>C (p.Ile1513Thr)
n.4833T>C
6g.157201111T>GCA366242024ARID1Bc.4727T>G (p.Ile1576Arg)
c.4796T>G (p.Ile1599Arg)
c.5015T>G (p.Ile1672Arg)
c.4766T>G (p.Ile1589Arg)
c.4478T>G (p.Ile1493Arg)
c.3044T>G (p.Ile1015Arg)
c.2207T>G (p.Ile736Arg)
c.1838T>G (p.Ile613Arg)
n.3349T>G
n.806T>G
c.4886T>G (p.Ile1629Arg)
n.2883T>G
c.2254T>G
c.2168T>G
n.1552T>G
c.2228T>G (p.Ile743Arg)
c.2387T>G (p.Ile796Arg)
c.4517T>G (p.Ile1506Arg)
c.4637T>G (p.Ile1546Arg)
c.3716T>G (p.Ile1239Arg)
c.3536T>G (p.Ile1179Arg)
c.3296T>G (p.Ile1099Arg)
c.2915T>G (p.Ile972Arg)
c.1778T>G (p.Ile593Arg)
c.4847T>G (p.Ile1616Arg)
c.4748T>G (p.Ile1583Arg)
c.4718T>G (p.Ile1573Arg)
c.4688T>G (p.Ile1563Arg)
c.4559T>G (p.Ile1520Arg)
c.4538T>G (p.Ile1513Arg)
n.4833T>G
6g.157201111T=CA1675522994ARID1Bc.4727T= (p.Ile1576=)
c.4796T= (p.Ile1599=)
c.5015T= (p.Ile1672=)
c.4766T= (p.Ile1589=)
c.4478T= (p.Ile1493=)
c.3044T= (p.Ile1015=)
c.2207T= (p.Ile736=)
c.1838T= (p.Ile613=)
n.3349T=
n.806T=
c.4886T= (p.Ile1629=)
n.2883T=
c.2254T=
c.2168T=
n.1552T=
c.2228T= (p.Ile743=)
c.2387T= (p.Ile796=)
c.4517T= (p.Ile1506=)
c.4637T= (p.Ile1546=)
c.3716T= (p.Ile1239=)
c.3536T= (p.Ile1179=)
c.3296T= (p.Ile1099=)
c.2915T= (p.Ile972=)
c.1778T= (p.Ile593=)
c.4847T= (p.Ile1616=)
c.4748T= (p.Ile1583=)
c.4718T= (p.Ile1573=)
c.4688T= (p.Ile1563=)
c.4559T= (p.Ile1520=)
c.4538T= (p.Ile1513=)
n.4833T=
6g.157201112A>CCA452978057ARID1Bc.4728A>C (p.Ile1576=)
c.4797A>C (p.Ile1599=)
c.5016A>C (p.Ile1672=)
c.4767A>C (p.Ile1589=)
c.4479A>C (p.Ile1493=)
c.3045A>C (p.Ile1015=)
c.2208A>C (p.Ile736=)
c.1839A>C (p.Ile613=)
n.3350A>C
n.807A>C
c.4887A>C (p.Ile1629=)
n.2884A>C
c.2255A>C
c.2169A>C
n.1553A>C
c.2229A>C (p.Ile743=)
c.2388A>C (p.Ile796=)
c.4518A>C (p.Ile1506=)
c.4638A>C (p.Ile1546=)
c.3717A>C (p.Ile1239=)
c.3537A>C (p.Ile1179=)
c.3297A>C (p.Ile1099=)
c.2916A>C (p.Ile972=)
c.1779A>C (p.Ile593=)
c.4848A>C (p.Ile1616=)
c.4749A>C (p.Ile1583=)
c.4719A>C (p.Ile1573=)
c.4689A>C (p.Ile1563=)
c.4560A>C (p.Ile1520=)
c.4539A>C (p.Ile1513=)
n.4834A>C
6g.157201112A>GCA366242025ARID1Bc.4728A>G (p.Ile1576Met)
c.4797A>G (p.Ile1599Met)
c.5016A>G (p.Ile1672Met)
c.4767A>G (p.Ile1589Met)
c.4479A>G (p.Ile1493Met)
c.3045A>G (p.Ile1015Met)
c.2208A>G (p.Ile736Met)
c.1839A>G (p.Ile613Met)
n.3350A>G
n.807A>G
c.4887A>G (p.Ile1629Met)
n.2884A>G
c.2255A>G
c.2169A>G
n.1553A>G
c.2229A>G (p.Ile743Met)
c.2388A>G (p.Ile796Met)
c.4518A>G (p.Ile1506Met)
c.4638A>G (p.Ile1546Met)
c.3717A>G (p.Ile1239Met)
c.3537A>G (p.Ile1179Met)
c.3297A>G (p.Ile1099Met)
c.2916A>G (p.Ile972Met)
c.1779A>G (p.Ile593Met)
c.4848A>G (p.Ile1616Met)
c.4749A>G (p.Ile1583Met)
c.4719A>G (p.Ile1573Met)
c.4689A>G (p.Ile1563Met)
c.4560A>G (p.Ile1520Met)
c.4539A>G (p.Ile1513Met)
n.4834A>G
6g.157201112A>TCA452978058ARID1Bc.4728A>T (p.Ile1576=)
c.4797A>T (p.Ile1599=)
c.5016A>T (p.Ile1672=)
c.4767A>T (p.Ile1589=)
c.4479A>T (p.Ile1493=)
c.3045A>T (p.Ile1015=)
c.2208A>T (p.Ile736=)
c.1839A>T (p.Ile613=)
n.3350A>T
n.807A>T
c.4887A>T (p.Ile1629=)
n.2884A>T
c.2255A>T
c.2169A>T
n.1553A>T
c.2229A>T (p.Ile743=)
c.2388A>T (p.Ile796=)
c.4518A>T (p.Ile1506=)
c.4638A>T (p.Ile1546=)
c.3717A>T (p.Ile1239=)
c.3537A>T (p.Ile1179=)
c.3297A>T (p.Ile1099=)
c.2916A>T (p.Ile972=)
c.1779A>T (p.Ile593=)
c.4848A>T (p.Ile1616=)
c.4749A>T (p.Ile1583=)
c.4719A>T (p.Ile1573=)
c.4689A>T (p.Ile1563=)
c.4560A>T (p.Ile1520=)
c.4539A>T (p.Ile1513=)
n.4834A>T
6g.157201114delCA2713416337ARID1Bc.4730del (p.Asn1577IlefsTer?)
c.4799del (p.Asn1600IlefsTer?)
c.5018del (p.Asn1673IlefsTer?)
c.4769del (p.Asn1590IlefsTer?)
c.4481del (p.Asn1494IlefsTer?)
c.3047del (p.Asn1016IlefsTer?)
c.2210del (p.Asn737IlefsTer?)
c.1841del (p.Asn614IlefsTer?)
n.3352del
n.809del
c.4889del (p.Asn1630IlefsTer?)
n.2886del
c.2257del
c.2171del
n.1555del
c.2231del (p.Asn744IlefsTer?)
c.2390del (p.Asn797IlefsTer?)
c.4520del (p.Asn1507IlefsTer?)
c.4640del (p.Asn1547IlefsTer?)
c.3719del (p.Asn1240IlefsTer?)
c.3539del (p.Asn1180IlefsTer?)
c.3299del (p.Asn1100IlefsTer?)
c.2918del (p.Asn973IlefsTer?)
c.1781del (p.Asn594IlefsTer?)
c.4850del (p.Asn1617IlefsTer?)
c.4751del (p.Asn1584IlefsTer?)
c.4721del (p.Asn1574IlefsTer?)
c.4691del (p.Asn1564IlefsTer?)
c.4562del (p.Asn1521IlefsTer?)
c.4541del (p.Asn1514IlefsTer?)
n.4836del
ClinVar dbSNP
6g.157201113A=CA1675522995ARID1Bc.4729A= (p.Asn1577=)
c.4798A= (p.Asn1600=)
c.5017A= (p.Asn1673=)
c.4768A= (p.Asn1590=)
c.4480A= (p.Asn1494=)
c.3046A= (p.Asn1016=)
c.2209A= (p.Asn737=)
c.1840A= (p.Asn614=)
n.3351A=
n.808A=
c.4888A= (p.Asn1630=)
n.2885A=
c.2256A=
c.2170A=
n.1554A=
c.2230A= (p.Asn744=)
c.2389A= (p.Asn797=)
c.4519A= (p.Asn1507=)
c.4639A= (p.Asn1547=)
c.3718A= (p.Asn1240=)
c.3538A= (p.Asn1180=)
c.3298A= (p.Asn1100=)
c.2917A= (p.Asn973=)
c.1780A= (p.Asn594=)
c.4849A= (p.Asn1617=)
c.4750A= (p.Asn1584=)
c.4720A= (p.Asn1574=)
c.4690A= (p.Asn1564=)
c.4561A= (p.Asn1521=)
c.4540A= (p.Asn1514=)
n.4835A=
6g.157201113A>CCA366242026ARID1Bc.4729A>C (p.Asn1577His)
c.4798A>C (p.Asn1600His)
c.5017A>C (p.Asn1673His)
c.4768A>C (p.Asn1590His)
c.4480A>C (p.Asn1494His)
c.3046A>C (p.Asn1016His)
c.2209A>C (p.Asn737His)
c.1840A>C (p.Asn614His)
n.3351A>C
n.808A>C
c.4888A>C (p.Asn1630His)
n.2885A>C
c.2256A>C
c.2170A>C
n.1554A>C
c.2230A>C (p.Asn744His)
c.2389A>C (p.Asn797His)
c.4519A>C (p.Asn1507His)
c.4639A>C (p.Asn1547His)
c.3718A>C (p.Asn1240His)
c.3538A>C (p.Asn1180His)
c.3298A>C (p.Asn1100His)
c.2917A>C (p.Asn973His)
c.1780A>C (p.Asn594His)
c.4849A>C (p.Asn1617His)
c.4750A>C (p.Asn1584His)
c.4720A>C (p.Asn1574His)
c.4690A>C (p.Asn1564His)
c.4561A>C (p.Asn1521His)
c.4540A>C (p.Asn1514His)
n.4835A>C
6g.157201113A>GCA150370233ARID1Bc.4729A>G (p.Asn1577Asp)
c.4798A>G (p.Asn1600Asp)
c.5017A>G (p.Asn1673Asp)
c.4768A>G (p.Asn1590Asp)
c.4480A>G (p.Asn1494Asp)
c.3046A>G (p.Asn1016Asp)
c.2209A>G (p.Asn737Asp)
c.1840A>G (p.Asn614Asp)
n.3351A>G
n.808A>G
c.4888A>G (p.Asn1630Asp)
n.2885A>G
c.2256A>G
c.2170A>G
n.1554A>G
c.2230A>G (p.Asn744Asp)
c.2389A>G (p.Asn797Asp)
c.4519A>G (p.Asn1507Asp)
c.4639A>G (p.Asn1547Asp)
c.3718A>G (p.Asn1240Asp)
c.3538A>G (p.Asn1180Asp)
c.3298A>G (p.Asn1100Asp)
c.2917A>G (p.Asn973Asp)
c.1780A>G (p.Asn594Asp)
c.4849A>G (p.Asn1617Asp)
c.4750A>G (p.Asn1584Asp)
c.4720A>G (p.Asn1574Asp)
c.4690A>G (p.Asn1564Asp)
c.4561A>G (p.Asn1521Asp)
c.4540A>G (p.Asn1514Asp)
n.4835A>G
dbSNP
6g.157201113A>TCA366242027ARID1Bc.4729A>T (p.Asn1577Tyr)
c.4798A>T (p.Asn1600Tyr)
c.5017A>T (p.Asn1673Tyr)
c.4768A>T (p.Asn1590Tyr)
c.4480A>T (p.Asn1494Tyr)
c.3046A>T (p.Asn1016Tyr)
c.2209A>T (p.Asn737Tyr)
c.1840A>T (p.Asn614Tyr)
n.3351A>T
n.808A>T
c.4888A>T (p.Asn1630Tyr)
n.2885A>T
c.2256A>T
c.2170A>T
n.1554A>T
c.2230A>T (p.Asn744Tyr)
c.2389A>T (p.Asn797Tyr)
c.4519A>T (p.Asn1507Tyr)
c.4639A>T (p.Asn1547Tyr)
c.3718A>T (p.Asn1240Tyr)
c.3538A>T (p.Asn1180Tyr)
c.3298A>T (p.Asn1100Tyr)
c.2917A>T (p.Asn973Tyr)
c.1780A>T (p.Asn594Tyr)
c.4849A>T (p.Asn1617Tyr)
c.4750A>T (p.Asn1584Tyr)
c.4720A>T (p.Asn1574Tyr)
c.4690A>T (p.Asn1564Tyr)
c.4561A>T (p.Asn1521Tyr)
c.4540A>T (p.Asn1514Tyr)
n.4835A>T
6g.157201114A=CA1675522997ARID1Bc.4730A= (p.Asn1577=)
c.4799A= (p.Asn1600=)
c.5018A= (p.Asn1673=)
c.4769A= (p.Asn1590=)
c.4481A= (p.Asn1494=)
c.3047A= (p.Asn1016=)
c.2210A= (p.Asn737=)
c.1841A= (p.Asn614=)
n.3352A=
n.809A=
c.4889A= (p.Asn1630=)
n.2886A=
c.2257A=
c.2171A=
n.1555A=
c.2231A= (p.Asn744=)
c.2390A= (p.Asn797=)
c.4520A= (p.Asn1507=)
c.4640A= (p.Asn1547=)
c.3719A= (p.Asn1240=)
c.3539A= (p.Asn1180=)
c.3299A= (p.Asn1100=)
c.2918A= (p.Asn973=)
c.1781A= (p.Asn594=)
c.4850A= (p.Asn1617=)
c.4751A= (p.Asn1584=)
c.4721A= (p.Asn1574=)
c.4691A= (p.Asn1564=)
c.4562A= (p.Asn1521=)
c.4541A= (p.Asn1514=)
n.4836A=
6g.157201114A>CCA366242028ARID1Bc.4730A>C (p.Asn1577Thr)
c.4799A>C (p.Asn1600Thr)
c.5018A>C (p.Asn1673Thr)
c.4769A>C (p.Asn1590Thr)
c.4481A>C (p.Asn1494Thr)
c.3047A>C (p.Asn1016Thr)
c.2210A>C (p.Asn737Thr)
c.1841A>C (p.Asn614Thr)
n.3352A>C
n.809A>C
c.4889A>C (p.Asn1630Thr)
n.2886A>C
c.2257A>C
c.2171A>C
n.1555A>C
c.2231A>C (p.Asn744Thr)
c.2390A>C (p.Asn797Thr)
c.4520A>C (p.Asn1507Thr)
c.4640A>C (p.Asn1547Thr)
c.3719A>C (p.Asn1240Thr)
c.3539A>C (p.Asn1180Thr)
c.3299A>C (p.Asn1100Thr)
c.2918A>C (p.Asn973Thr)
c.1781A>C (p.Asn594Thr)
c.4850A>C (p.Asn1617Thr)
c.4751A>C (p.Asn1584Thr)
c.4721A>C (p.Asn1574Thr)
c.4691A>C (p.Asn1564Thr)
c.4562A>C (p.Asn1521Thr)
c.4541A>C (p.Asn1514Thr)
n.4836A>C
6g.157201114A>GCA366242029ARID1Bc.4730A>G (p.Asn1577Ser)
c.4799A>G (p.Asn1600Ser)
c.5018A>G (p.Asn1673Ser)
c.4769A>G (p.Asn1590Ser)
c.4481A>G (p.Asn1494Ser)
c.3047A>G (p.Asn1016Ser)
c.2210A>G (p.Asn737Ser)
c.1841A>G (p.Asn614Ser)
n.3352A>G
n.809A>G
c.4889A>G (p.Asn1630Ser)
n.2886A>G
c.2257A>G
c.2171A>G
n.1555A>G
c.2231A>G (p.Asn744Ser)
c.2390A>G (p.Asn797Ser)
c.4520A>G (p.Asn1507Ser)
c.4640A>G (p.Asn1547Ser)
c.3719A>G (p.Asn1240Ser)
c.3539A>G (p.Asn1180Ser)
c.3299A>G (p.Asn1100Ser)
c.2918A>G (p.Asn973Ser)
c.1781A>G (p.Asn594Ser)
c.4850A>G (p.Asn1617Ser)
c.4751A>G (p.Asn1584Ser)
c.4721A>G (p.Asn1574Ser)
c.4691A>G (p.Asn1564Ser)
c.4562A>G (p.Asn1521Ser)
c.4541A>G (p.Asn1514Ser)
n.4836A>G
dbSNP
6g.157201114A>TCA366242030ARID1Bc.4730A>T (p.Asn1577Ile)
c.4799A>T (p.Asn1600Ile)
c.5018A>T (p.Asn1673Ile)
c.4769A>T (p.Asn1590Ile)
c.4481A>T (p.Asn1494Ile)
c.3047A>T (p.Asn1016Ile)
c.2210A>T (p.Asn737Ile)
c.1841A>T (p.Asn614Ile)
n.3352A>T
n.809A>T
c.4889A>T (p.Asn1630Ile)
n.2886A>T
c.2257A>T
c.2171A>T
n.1555A>T
c.2231A>T (p.Asn744Ile)
c.2390A>T (p.Asn797Ile)
c.4520A>T (p.Asn1507Ile)
c.4640A>T (p.Asn1547Ile)
c.3719A>T (p.Asn1240Ile)
c.3539A>T (p.Asn1180Ile)
c.3299A>T (p.Asn1100Ile)
c.2918A>T (p.Asn973Ile)
c.1781A>T (p.Asn594Ile)
c.4850A>T (p.Asn1617Ile)
c.4751A>T (p.Asn1584Ile)
c.4721A>T (p.Asn1574Ile)
c.4691A>T (p.Asn1564Ile)
c.4562A>T (p.Asn1521Ile)
c.4541A>T (p.Asn1514Ile)
n.4836A>T

Number of alleles fetched