Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.157200916_157200917delCA2695207265ARID1Bc.4532_4533del (p.His1511ArgfsTer17)
c.4601_4602del (p.His1534ArgfsTer17)
c.4820_4821del (p.His1607ArgfsTer17)
c.4571_4572del (p.His1524ArgfsTer17)
c.4283_4284del (p.His1428ArgfsTer17)
c.2849_2850del (p.His950ArgfsTer17)
c.2012_2013del (p.His671ArgfsTer17)
c.1643_1644del (p.His548ArgfsTer17)
n.3154_3155del
n.611_612del
c.4691_4692del (p.His1564ArgfsTer17)
n.2688_2689del
c.2059_2060del
c.1973_1974del
n.1357_1358del
c.2033_2034del (p.His678ArgfsTer17)
c.2192_2193del (p.His731ArgfsTer17)
c.4322_4323del (p.His1441ArgfsTer17)
c.4442_4443del (p.His1481ArgfsTer17)
c.3521_3522del (p.His1174ArgfsTer17)
c.3341_3342del (p.His1114ArgfsTer17)
c.3101_3102del (p.His1034ArgfsTer17)
c.2720_2721del (p.His907ArgfsTer17)
c.1583_1584del (p.His528ArgfsTer17)
c.4652_4653del (p.His1551ArgfsTer17)
c.4553_4554del (p.His1518ArgfsTer17)
c.4523_4524del (p.His1508ArgfsTer17)
c.4493_4494del (p.His1498ArgfsTer17)
c.4364_4365del (p.His1455ArgfsTer17)
c.4343_4344del (p.His1448ArgfsTer17)
n.4638_4639del
6g.157200914delCA2580075312ARID1Bc.4530del (p.His1511ThrfsTer7)
c.4599del (p.His1534ThrfsTer7)
c.4818del (p.His1607ThrfsTer7)
c.4569del (p.His1524ThrfsTer7)
c.4281del (p.His1428ThrfsTer7)
c.2847del (p.His950ThrfsTer7)
c.2010del (p.His671ThrfsTer7)
c.1641del (p.His548ThrfsTer7)
n.3152del
n.609del
c.4689del (p.His1564ThrfsTer7)
n.2686del
c.2057del
c.1971del
n.1355del
c.2031del (p.His678ThrfsTer7)
c.2190del (p.His731ThrfsTer7)
c.4320del (p.His1441ThrfsTer7)
c.4440del (p.His1481ThrfsTer7)
c.3519del (p.His1174ThrfsTer7)
c.3339del (p.His1114ThrfsTer7)
c.3099del (p.His1034ThrfsTer7)
c.2718del (p.His907ThrfsTer7)
c.1581del (p.His528ThrfsTer7)
c.4650del (p.His1551ThrfsTer7)
c.4551del (p.His1518ThrfsTer7)
c.4521del (p.His1508ThrfsTer7)
c.4491del (p.His1498ThrfsTer7)
c.4362del (p.His1455ThrfsTer7)
c.4341del (p.His1448ThrfsTer7)
n.4636del
ClinVar
6g.157200914A=CA1675543142ARID1Bc.4530A= (p.Thr1510=)
c.4599A= (p.Thr1533=)
c.4818A= (p.Thr1606=)
c.4569A= (p.Thr1523=)
c.4281A= (p.Thr1427=)
c.2847A= (p.Thr949=)
c.2010A= (p.Thr670=)
c.1641A= (p.Thr547=)
n.3152A=
n.609A=
c.4689A= (p.Thr1563=)
n.2686A=
c.2057A=
c.1971A=
n.1355A=
c.2031A= (p.Thr677=)
c.2190A= (p.Thr730=)
c.4320A= (p.Thr1440=)
c.4440A= (p.Thr1480=)
c.3519A= (p.Thr1173=)
c.3339A= (p.Thr1113=)
c.3099A= (p.Thr1033=)
c.2718A= (p.Thr906=)
c.1581A= (p.Thr527=)
c.4650A= (p.Thr1550=)
c.4551A= (p.Thr1517=)
c.4521A= (p.Thr1507=)
c.4491A= (p.Thr1497=)
c.4362A= (p.Thr1454=)
c.4341A= (p.Thr1447=)
n.4636A=
6g.157200914A>CCA452977989ARID1Bc.4530A>C (p.Thr1510=)
c.4599A>C (p.Thr1533=)
c.4818A>C (p.Thr1606=)
c.4569A>C (p.Thr1523=)
c.4281A>C (p.Thr1427=)
c.2847A>C (p.Thr949=)
c.2010A>C (p.Thr670=)
c.1641A>C (p.Thr547=)
n.3152A>C
n.609A>C
c.4689A>C (p.Thr1563=)
n.2686A>C
c.2057A>C
c.1971A>C
n.1355A>C
c.2031A>C (p.Thr677=)
c.2190A>C (p.Thr730=)
c.4320A>C (p.Thr1440=)
c.4440A>C (p.Thr1480=)
c.3519A>C (p.Thr1173=)
c.3339A>C (p.Thr1113=)
c.3099A>C (p.Thr1033=)
c.2718A>C (p.Thr906=)
c.1581A>C (p.Thr527=)
c.4650A>C (p.Thr1550=)
c.4551A>C (p.Thr1517=)
c.4521A>C (p.Thr1507=)
c.4491A>C (p.Thr1497=)
c.4362A>C (p.Thr1454=)
c.4341A>C (p.Thr1447=)
n.4636A>C
6g.157200914A>GCA452977988ARID1Bc.4530A>G (p.Thr1510=)
c.4599A>G (p.Thr1533=)
c.4818A>G (p.Thr1606=)
c.4569A>G (p.Thr1523=)
c.4281A>G (p.Thr1427=)
c.2847A>G (p.Thr949=)
c.2010A>G (p.Thr670=)
c.1641A>G (p.Thr547=)
n.3152A>G
n.609A>G
c.4689A>G (p.Thr1563=)
n.2686A>G
c.2057A>G
c.1971A>G
n.1355A>G
c.2031A>G (p.Thr677=)
c.2190A>G (p.Thr730=)
c.4320A>G (p.Thr1440=)
c.4440A>G (p.Thr1480=)
c.3519A>G (p.Thr1173=)
c.3339A>G (p.Thr1113=)
c.3099A>G (p.Thr1033=)
c.2718A>G (p.Thr906=)
c.1581A>G (p.Thr527=)
c.4650A>G (p.Thr1550=)
c.4551A>G (p.Thr1517=)
c.4521A>G (p.Thr1507=)
c.4491A>G (p.Thr1497=)
c.4362A>G (p.Thr1454=)
c.4341A>G (p.Thr1447=)
n.4636A>G
6g.157200914A>TCA452977990ARID1Bc.4530A>T (p.Thr1510=)
c.4599A>T (p.Thr1533=)
c.4818A>T (p.Thr1606=)
c.4569A>T (p.Thr1523=)
c.4281A>T (p.Thr1427=)
c.2847A>T (p.Thr949=)
c.2010A>T (p.Thr670=)
c.1641A>T (p.Thr547=)
n.3152A>T
n.609A>T
c.4689A>T (p.Thr1563=)
n.2686A>T
c.2057A>T
c.1971A>T
n.1355A>T
c.2031A>T (p.Thr677=)
c.2190A>T (p.Thr730=)
c.4320A>T (p.Thr1440=)
c.4440A>T (p.Thr1480=)
c.3519A>T (p.Thr1173=)
c.3339A>T (p.Thr1113=)
c.3099A>T (p.Thr1033=)
c.2718A>T (p.Thr906=)
c.1581A>T (p.Thr527=)
c.4650A>T (p.Thr1550=)
c.4551A>T (p.Thr1517=)
c.4521A>T (p.Thr1507=)
c.4491A>T (p.Thr1497=)
c.4362A>T (p.Thr1454=)
c.4341A>T (p.Thr1447=)
n.4636A>T
dbSNP gnomAD v2 gnomAD v4
6g.157200915C>ACA366241219ARID1Bc.4531C>A (p.His1511Asn)
c.4600C>A (p.His1534Asn)
c.4819C>A (p.His1607Asn)
c.4570C>A (p.His1524Asn)
c.4282C>A (p.His1428Asn)
c.2848C>A (p.His950Asn)
c.2011C>A (p.His671Asn)
c.1642C>A (p.His548Asn)
n.3153C>A
n.610C>A
c.4690C>A (p.His1564Asn)
n.2687C>A
c.2058C>A
c.1972C>A
n.1356C>A
c.2032C>A (p.His678Asn)
c.2191C>A (p.His731Asn)
c.4321C>A (p.His1441Asn)
c.4441C>A (p.His1481Asn)
c.3520C>A (p.His1174Asn)
c.3340C>A (p.His1114Asn)
c.3100C>A (p.His1034Asn)
c.2719C>A (p.His907Asn)
c.1582C>A (p.His528Asn)
c.4651C>A (p.His1551Asn)
c.4552C>A (p.His1518Asn)
c.4522C>A (p.His1508Asn)
c.4492C>A (p.His1498Asn)
c.4363C>A (p.His1455Asn)
c.4342C>A (p.His1448Asn)
n.4637C>A
6g.157200915C=CA1675543143ARID1Bc.4531C= (p.His1511=)
c.4600C= (p.His1534=)
c.4819C= (p.His1607=)
c.4570C= (p.His1524=)
c.4282C= (p.His1428=)
c.2848C= (p.His950=)
c.2011C= (p.His671=)
c.1642C= (p.His548=)
n.3153C=
n.610C=
c.4690C= (p.His1564=)
n.2687C=
c.2058C=
c.1972C=
n.1356C=
c.2032C= (p.His678=)
c.2191C= (p.His731=)
c.4321C= (p.His1441=)
c.4441C= (p.His1481=)
c.3520C= (p.His1174=)
c.3340C= (p.His1114=)
c.3100C= (p.His1034=)
c.2719C= (p.His907=)
c.1582C= (p.His528=)
c.4651C= (p.His1551=)
c.4552C= (p.His1518=)
c.4522C= (p.His1508=)
c.4492C= (p.His1498=)
c.4363C= (p.His1455=)
c.4342C= (p.His1448=)
n.4637C=
6g.157200915C>GCA366241220ARID1Bc.4531C>G (p.His1511Asp)
c.4600C>G (p.His1534Asp)
c.4819C>G (p.His1607Asp)
c.4570C>G (p.His1524Asp)
c.4282C>G (p.His1428Asp)
c.2848C>G (p.His950Asp)
c.2011C>G (p.His671Asp)
c.1642C>G (p.His548Asp)
n.3153C>G
n.610C>G
c.4690C>G (p.His1564Asp)
n.2687C>G
c.2058C>G
c.1972C>G
n.1356C>G
c.2032C>G (p.His678Asp)
c.2191C>G (p.His731Asp)
c.4321C>G (p.His1441Asp)
c.4441C>G (p.His1481Asp)
c.3520C>G (p.His1174Asp)
c.3340C>G (p.His1114Asp)
c.3100C>G (p.His1034Asp)
c.2719C>G (p.His907Asp)
c.1582C>G (p.His528Asp)
c.4651C>G (p.His1551Asp)
c.4552C>G (p.His1518Asp)
c.4522C>G (p.His1508Asp)
c.4492C>G (p.His1498Asp)
c.4363C>G (p.His1455Asp)
c.4342C>G (p.His1448Asp)
n.4637C>G
6g.157200915C>TCA366241221ARID1Bc.4531C>T (p.His1511Tyr)
c.4600C>T (p.His1534Tyr)
c.4819C>T (p.His1607Tyr)
c.4570C>T (p.His1524Tyr)
c.4282C>T (p.His1428Tyr)
c.2848C>T (p.His950Tyr)
c.2011C>T (p.His671Tyr)
c.1642C>T (p.His548Tyr)
n.3153C>T
n.610C>T
c.4690C>T (p.His1564Tyr)
n.2687C>T
c.2058C>T
c.1972C>T
n.1356C>T
c.2032C>T (p.His678Tyr)
c.2191C>T (p.His731Tyr)
c.4321C>T (p.His1441Tyr)
c.4441C>T (p.His1481Tyr)
c.3520C>T (p.His1174Tyr)
c.3340C>T (p.His1114Tyr)
c.3100C>T (p.His1034Tyr)
c.2719C>T (p.His907Tyr)
c.1582C>T (p.His528Tyr)
c.4651C>T (p.His1551Tyr)
c.4552C>T (p.His1518Tyr)
c.4522C>T (p.His1508Tyr)
c.4492C>T (p.His1498Tyr)
c.4363C>T (p.His1455Tyr)
c.4342C>T (p.His1448Tyr)
n.4637C>T
6g.157200916A=CA1675543144ARID1Bc.4532A= (p.His1511=)
c.4601A= (p.His1534=)
c.4820A= (p.His1607=)
c.4571A= (p.His1524=)
c.4283A= (p.His1428=)
c.2849A= (p.His950=)
c.2012A= (p.His671=)
c.1643A= (p.His548=)
n.3154A=
n.611A=
c.4691A= (p.His1564=)
n.2688A=
c.2059A=
c.1973A=
n.1357A=
c.2033A= (p.His678=)
c.2192A= (p.His731=)
c.4322A= (p.His1441=)
c.4442A= (p.His1481=)
c.3521A= (p.His1174=)
c.3341A= (p.His1114=)
c.3101A= (p.His1034=)
c.2720A= (p.His907=)
c.1583A= (p.His528=)
c.4652A= (p.His1551=)
c.4553A= (p.His1518=)
c.4523A= (p.His1508=)
c.4493A= (p.His1498=)
c.4364A= (p.His1455=)
c.4343A= (p.His1448=)
n.4638A=
6g.157200916A>CCA366241222ARID1Bc.4532A>C (p.His1511Pro)
c.4601A>C (p.His1534Pro)
c.4820A>C (p.His1607Pro)
c.4571A>C (p.His1524Pro)
c.4283A>C (p.His1428Pro)
c.2849A>C (p.His950Pro)
c.2012A>C (p.His671Pro)
c.1643A>C (p.His548Pro)
n.3154A>C
n.611A>C
c.4691A>C (p.His1564Pro)
n.2688A>C
c.2059A>C
c.1973A>C
n.1357A>C
c.2033A>C (p.His678Pro)
c.2192A>C (p.His731Pro)
c.4322A>C (p.His1441Pro)
c.4442A>C (p.His1481Pro)
c.3521A>C (p.His1174Pro)
c.3341A>C (p.His1114Pro)
c.3101A>C (p.His1034Pro)
c.2720A>C (p.His907Pro)
c.1583A>C (p.His528Pro)
c.4652A>C (p.His1551Pro)
c.4553A>C (p.His1518Pro)
c.4523A>C (p.His1508Pro)
c.4493A>C (p.His1498Pro)
c.4364A>C (p.His1455Pro)
c.4343A>C (p.His1448Pro)
n.4638A>C
6g.157200916A>GCA366241223ARID1Bc.4532A>G (p.His1511Arg)
c.4601A>G (p.His1534Arg)
c.4820A>G (p.His1607Arg)
c.4571A>G (p.His1524Arg)
c.4283A>G (p.His1428Arg)
c.2849A>G (p.His950Arg)
c.2012A>G (p.His671Arg)
c.1643A>G (p.His548Arg)
n.3154A>G
n.611A>G
c.4691A>G (p.His1564Arg)
n.2688A>G
c.2059A>G
c.1973A>G
n.1357A>G
c.2033A>G (p.His678Arg)
c.2192A>G (p.His731Arg)
c.4322A>G (p.His1441Arg)
c.4442A>G (p.His1481Arg)
c.3521A>G (p.His1174Arg)
c.3341A>G (p.His1114Arg)
c.3101A>G (p.His1034Arg)
c.2720A>G (p.His907Arg)
c.1583A>G (p.His528Arg)
c.4652A>G (p.His1551Arg)
c.4553A>G (p.His1518Arg)
c.4523A>G (p.His1508Arg)
c.4493A>G (p.His1498Arg)
c.4364A>G (p.His1455Arg)
c.4343A>G (p.His1448Arg)
n.4638A>G
6g.157200916A>TCA4067684ARID1Bc.4532A>T (p.His1511Leu)
c.4601A>T (p.His1534Leu)
c.4820A>T (p.His1607Leu)
c.4571A>T (p.His1524Leu)
c.4283A>T (p.His1428Leu)
c.2849A>T (p.His950Leu)
c.2012A>T (p.His671Leu)
c.1643A>T (p.His548Leu)
n.3154A>T
n.611A>T
c.4691A>T (p.His1564Leu)
n.2688A>T
c.2059A>T
c.1973A>T
n.1357A>T
c.2033A>T (p.His678Leu)
c.2192A>T (p.His731Leu)
c.4322A>T (p.His1441Leu)
c.4442A>T (p.His1481Leu)
c.3521A>T (p.His1174Leu)
c.3341A>T (p.His1114Leu)
c.3101A>T (p.His1034Leu)
c.2720A>T (p.His907Leu)
c.1583A>T (p.His528Leu)
c.4652A>T (p.His1551Leu)
c.4553A>T (p.His1518Leu)
c.4523A>T (p.His1508Leu)
c.4493A>T (p.His1498Leu)
c.4364A>T (p.His1455Leu)
c.4343A>T (p.His1448Leu)
n.4638A>T
dbSNP ExAC gnomAD v2 gnomAD v4
6g.157200916dupCA10602993ARID1Bc.4532dup (p.His1511GlnfsTer18)
c.4601dup (p.His1534GlnfsTer18)
c.4820dup (p.His1607GlnfsTer18)
c.4571dup (p.His1524GlnfsTer18)
c.4283dup (p.His1428GlnfsTer18)
c.2849dup (p.His950GlnfsTer18)
c.2012dup (p.His671GlnfsTer18)
c.1643dup (p.His548GlnfsTer18)
n.3154dup
n.611dup
c.4691dup (p.His1564GlnfsTer18)
n.2688dup
c.2059dup
c.1973dup
n.1357dup
c.2033dup (p.His678GlnfsTer18)
c.2192dup (p.His731GlnfsTer18)
c.4322dup (p.His1441GlnfsTer18)
c.4442dup (p.His1481GlnfsTer18)
c.3521dup (p.His1174GlnfsTer18)
c.3341dup (p.His1114GlnfsTer18)
c.3101dup (p.His1034GlnfsTer18)
c.2720dup (p.His907GlnfsTer18)
c.1583dup (p.His528GlnfsTer18)
c.4652dup (p.His1551GlnfsTer18)
c.4553dup (p.His1518GlnfsTer18)
c.4523dup (p.His1508GlnfsTer18)
c.4493dup (p.His1498GlnfsTer18)
c.4364dup (p.His1455GlnfsTer18)
c.4343dup (p.His1448GlnfsTer18)
n.4638dup
ClinVar dbSNP
6g.157200917C>ACA366241224ARID1Bc.4533C>A (p.His1511Gln)
c.4602C>A (p.His1534Gln)
c.4821C>A (p.His1607Gln)
c.4572C>A (p.His1524Gln)
c.4284C>A (p.His1428Gln)
c.2850C>A (p.His950Gln)
c.2013C>A (p.His671Gln)
c.1644C>A (p.His548Gln)
n.3155C>A
n.612C>A
c.4692C>A (p.His1564Gln)
n.2689C>A
c.2060C>A
c.1974C>A
n.1358C>A
c.2034C>A (p.His678Gln)
c.2193C>A (p.His731Gln)
c.4323C>A (p.His1441Gln)
c.4443C>A (p.His1481Gln)
c.3522C>A (p.His1174Gln)
c.3342C>A (p.His1114Gln)
c.3102C>A (p.His1034Gln)
c.2721C>A (p.His907Gln)
c.1584C>A (p.His528Gln)
c.4653C>A (p.His1551Gln)
c.4554C>A (p.His1518Gln)
c.4524C>A (p.His1508Gln)
c.4494C>A (p.His1498Gln)
c.4365C>A (p.His1455Gln)
c.4344C>A (p.His1448Gln)
n.4639C>A
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.157200917C=CA1675543145ARID1Bc.4533C= (p.His1511=)
c.4602C= (p.His1534=)
c.4821C= (p.His1607=)
c.4572C= (p.His1524=)
c.4284C= (p.His1428=)
c.2850C= (p.His950=)
c.2013C= (p.His671=)
c.1644C= (p.His548=)
n.3155C=
n.612C=
c.4692C= (p.His1564=)
n.2689C=
c.2060C=
c.1974C=
n.1358C=
c.2034C= (p.His678=)
c.2193C= (p.His731=)
c.4323C= (p.His1441=)
c.4443C= (p.His1481=)
c.3522C= (p.His1174=)
c.3342C= (p.His1114=)
c.3102C= (p.His1034=)
c.2721C= (p.His907=)
c.1584C= (p.His528=)
c.4653C= (p.His1551=)
c.4554C= (p.His1518=)
c.4524C= (p.His1508=)
c.4494C= (p.His1498=)
c.4365C= (p.His1455=)
c.4344C= (p.His1448=)
n.4639C=
6g.157200917C>GCA366241225ARID1Bc.4533C>G (p.His1511Gln)
c.4602C>G (p.His1534Gln)
c.4821C>G (p.His1607Gln)
c.4572C>G (p.His1524Gln)
c.4284C>G (p.His1428Gln)
c.2850C>G (p.His950Gln)
c.2013C>G (p.His671Gln)
c.1644C>G (p.His548Gln)
n.3155C>G
n.612C>G
c.4692C>G (p.His1564Gln)
n.2689C>G
c.2060C>G
c.1974C>G
n.1358C>G
c.2034C>G (p.His678Gln)
c.2193C>G (p.His731Gln)
c.4323C>G (p.His1441Gln)
c.4443C>G (p.His1481Gln)
c.3522C>G (p.His1174Gln)
c.3342C>G (p.His1114Gln)
c.3102C>G (p.His1034Gln)
c.2721C>G (p.His907Gln)
c.1584C>G (p.His528Gln)
c.4653C>G (p.His1551Gln)
c.4554C>G (p.His1518Gln)
c.4524C>G (p.His1508Gln)
c.4494C>G (p.His1498Gln)
c.4365C>G (p.His1455Gln)
c.4344C>G (p.His1448Gln)
n.4639C>G
6g.157200917C>TCA150369893ARID1Bc.4533C>T (p.His1511=)
c.4602C>T (p.His1534=)
c.4821C>T (p.His1607=)
c.4572C>T (p.His1524=)
c.4284C>T (p.His1428=)
c.2850C>T (p.His950=)
c.2013C>T (p.His671=)
c.1644C>T (p.His548=)
n.3155C>T
n.612C>T
c.4692C>T (p.His1564=)
n.2689C>T
c.2060C>T
c.1974C>T
n.1358C>T
c.2034C>T (p.His678=)
c.2193C>T (p.His731=)
c.4323C>T (p.His1441=)
c.4443C>T (p.His1481=)
c.3522C>T (p.His1174=)
c.3342C>T (p.His1114=)
c.3102C>T (p.His1034=)
c.2721C>T (p.His907=)
c.1584C>T (p.His528=)
c.4653C>T (p.His1551=)
c.4554C>T (p.His1518=)
c.4524C>T (p.His1508=)
c.4494C>T (p.His1498=)
c.4365C>T (p.His1455=)
c.4344C>T (p.His1448=)
n.4639C>T
ClinVar dbSNP gnomAD v3 gnomAD v4
6g.157200918G>ACA4067685ARID1Bc.4534G>A (p.Gly1512Arg)
c.4603G>A (p.Gly1535Arg)
c.4822G>A (p.Gly1608Arg)
c.4573G>A (p.Gly1525Arg)
c.4285G>A (p.Gly1429Arg)
c.2851G>A (p.Gly951Arg)
c.2014G>A (p.Gly672Arg)
c.1645G>A (p.Gly549Arg)
n.3156G>A
n.613G>A
c.4693G>A (p.Gly1565Arg)
n.2690G>A
c.2061G>A
c.1975G>A
n.1359G>A
c.2035G>A (p.Gly679Arg)
c.2194G>A (p.Gly732Arg)
c.4324G>A (p.Gly1442Arg)
c.4444G>A (p.Gly1482Arg)
c.3523G>A (p.Gly1175Arg)
c.3343G>A (p.Gly1115Arg)
c.3103G>A (p.Gly1035Arg)
c.2722G>A (p.Gly908Arg)
c.1585G>A (p.Gly529Arg)
c.4654G>A (p.Gly1552Arg)
c.4555G>A (p.Gly1519Arg)
c.4525G>A (p.Gly1509Arg)
c.4495G>A (p.Gly1499Arg)
c.4366G>A (p.Gly1456Arg)
c.4345G>A (p.Gly1449Arg)
n.4640G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.157200918G>CCA366241227ARID1Bc.4534G>C (p.Gly1512Arg)
c.4603G>C (p.Gly1535Arg)
c.4822G>C (p.Gly1608Arg)
c.4573G>C (p.Gly1525Arg)
c.4285G>C (p.Gly1429Arg)
c.2851G>C (p.Gly951Arg)
c.2014G>C (p.Gly672Arg)
c.1645G>C (p.Gly549Arg)
n.3156G>C
n.613G>C
c.4693G>C (p.Gly1565Arg)
n.2690G>C
c.2061G>C
c.1975G>C
n.1359G>C
c.2035G>C (p.Gly679Arg)
c.2194G>C (p.Gly732Arg)
c.4324G>C (p.Gly1442Arg)
c.4444G>C (p.Gly1482Arg)
c.3523G>C (p.Gly1175Arg)
c.3343G>C (p.Gly1115Arg)
c.3103G>C (p.Gly1035Arg)
c.2722G>C (p.Gly908Arg)
c.1585G>C (p.Gly529Arg)
c.4654G>C (p.Gly1552Arg)
c.4555G>C (p.Gly1519Arg)
c.4525G>C (p.Gly1509Arg)
c.4495G>C (p.Gly1499Arg)
c.4366G>C (p.Gly1456Arg)
c.4345G>C (p.Gly1449Arg)
n.4640G>C
6g.157200918G=CA1675543146ARID1Bc.4534G= (p.Gly1512=)
c.4603G= (p.Gly1535=)
c.4822G= (p.Gly1608=)
c.4573G= (p.Gly1525=)
c.4285G= (p.Gly1429=)
c.2851G= (p.Gly951=)
c.2014G= (p.Gly672=)
c.1645G= (p.Gly549=)
n.3156G=
n.613G=
c.4693G= (p.Gly1565=)
n.2690G=
c.2061G=
c.1975G=
n.1359G=
c.2035G= (p.Gly679=)
c.2194G= (p.Gly732=)
c.4324G= (p.Gly1442=)
c.4444G= (p.Gly1482=)
c.3523G= (p.Gly1175=)
c.3343G= (p.Gly1115=)
c.3103G= (p.Gly1035=)
c.2722G= (p.Gly908=)
c.1585G= (p.Gly529=)
c.4654G= (p.Gly1552=)
c.4555G= (p.Gly1519=)
c.4525G= (p.Gly1509=)
c.4495G= (p.Gly1499=)
c.4366G= (p.Gly1456=)
c.4345G= (p.Gly1449=)
n.4640G=
6g.157200918G>TCA366241226ARID1Bc.4534G>T (p.Gly1512Ter)
c.4603G>T (p.Gly1535Ter)
c.4822G>T (p.Gly1608Ter)
c.4573G>T (p.Gly1525Ter)
c.4285G>T (p.Gly1429Ter)
c.2851G>T (p.Gly951Ter)
c.2014G>T (p.Gly672Ter)
c.1645G>T (p.Gly549Ter)
n.3156G>T
n.613G>T
c.4693G>T (p.Gly1565Ter)
n.2690G>T
c.2061G>T
c.1975G>T
n.1359G>T
c.2035G>T (p.Gly679Ter)
c.2194G>T (p.Gly732Ter)
c.4324G>T (p.Gly1442Ter)
c.4444G>T (p.Gly1482Ter)
c.3523G>T (p.Gly1175Ter)
c.3343G>T (p.Gly1115Ter)
c.3103G>T (p.Gly1035Ter)
c.2722G>T (p.Gly908Ter)
c.1585G>T (p.Gly529Ter)
c.4654G>T (p.Gly1552Ter)
c.4555G>T (p.Gly1519Ter)
c.4525G>T (p.Gly1509Ter)
c.4495G>T (p.Gly1499Ter)
c.4366G>T (p.Gly1456Ter)
c.4345G>T (p.Gly1449Ter)
n.4640G>T
ClinVar dbSNP
6g.157200919G>ACA366241228ARID1Bc.4535G>A (p.Gly1512Glu)
c.4604G>A (p.Gly1535Glu)
c.4823G>A (p.Gly1608Glu)
c.4574G>A (p.Gly1525Glu)
c.4286G>A (p.Gly1429Glu)
c.2852G>A (p.Gly951Glu)
c.2015G>A (p.Gly672Glu)
c.1646G>A (p.Gly549Glu)
n.3157G>A
n.614G>A
c.4694G>A (p.Gly1565Glu)
n.2691G>A
c.2062G>A
c.1976G>A
n.1360G>A
c.2036G>A (p.Gly679Glu)
c.2195G>A (p.Gly732Glu)
c.4325G>A (p.Gly1442Glu)
c.4445G>A (p.Gly1482Glu)
c.3524G>A (p.Gly1175Glu)
c.3344G>A (p.Gly1115Glu)
c.3104G>A (p.Gly1035Glu)
c.2723G>A (p.Gly908Glu)
c.1586G>A (p.Gly529Glu)
c.4655G>A (p.Gly1552Glu)
c.4556G>A (p.Gly1519Glu)
c.4526G>A (p.Gly1509Glu)
c.4496G>A (p.Gly1499Glu)
c.4367G>A (p.Gly1456Glu)
c.4346G>A (p.Gly1449Glu)
n.4641G>A
6g.157200919G>CCA366241230ARID1Bc.4535G>C (p.Gly1512Ala)
c.4604G>C (p.Gly1535Ala)
c.4823G>C (p.Gly1608Ala)
c.4574G>C (p.Gly1525Ala)
c.4286G>C (p.Gly1429Ala)
c.2852G>C (p.Gly951Ala)
c.2015G>C (p.Gly672Ala)
c.1646G>C (p.Gly549Ala)
n.3157G>C
n.614G>C
c.4694G>C (p.Gly1565Ala)
n.2691G>C
c.2062G>C
c.1976G>C
n.1360G>C
c.2036G>C (p.Gly679Ala)
c.2195G>C (p.Gly732Ala)
c.4325G>C (p.Gly1442Ala)
c.4445G>C (p.Gly1482Ala)
c.3524G>C (p.Gly1175Ala)
c.3344G>C (p.Gly1115Ala)
c.3104G>C (p.Gly1035Ala)
c.2723G>C (p.Gly908Ala)
c.1586G>C (p.Gly529Ala)
c.4655G>C (p.Gly1552Ala)
c.4556G>C (p.Gly1519Ala)
c.4526G>C (p.Gly1509Ala)
c.4496G>C (p.Gly1499Ala)
c.4367G>C (p.Gly1456Ala)
c.4346G>C (p.Gly1449Ala)
n.4641G>C
6g.157200919G>TCA366241229ARID1Bc.4535G>T (p.Gly1512Val)
c.4604G>T (p.Gly1535Val)
c.4823G>T (p.Gly1608Val)
c.4574G>T (p.Gly1525Val)
c.4286G>T (p.Gly1429Val)
c.2852G>T (p.Gly951Val)
c.2015G>T (p.Gly672Val)
c.1646G>T (p.Gly549Val)
n.3157G>T
n.614G>T
c.4694G>T (p.Gly1565Val)
n.2691G>T
c.2062G>T
c.1976G>T
n.1360G>T
c.2036G>T (p.Gly679Val)
c.2195G>T (p.Gly732Val)
c.4325G>T (p.Gly1442Val)
c.4445G>T (p.Gly1482Val)
c.3524G>T (p.Gly1175Val)
c.3344G>T (p.Gly1115Val)
c.3104G>T (p.Gly1035Val)
c.2723G>T (p.Gly908Val)
c.1586G>T (p.Gly529Val)
c.4655G>T (p.Gly1552Val)
c.4556G>T (p.Gly1519Val)
c.4526G>T (p.Gly1509Val)
c.4496G>T (p.Gly1499Val)
c.4367G>T (p.Gly1456Val)
c.4346G>T (p.Gly1449Val)
n.4641G>T
6g.157200920A>CCA452977998ARID1Bc.4536A>C (p.Gly1512=)
c.4605A>C (p.Gly1535=)
c.4824A>C (p.Gly1608=)
c.4575A>C (p.Gly1525=)
c.4287A>C (p.Gly1429=)
c.2853A>C (p.Gly951=)
c.2016A>C (p.Gly672=)
c.1647A>C (p.Gly549=)
n.3158A>C
n.615A>C
c.4695A>C (p.Gly1565=)
n.2692A>C
c.2063A>C
c.1977A>C
n.1361A>C
c.2037A>C (p.Gly679=)
c.2196A>C (p.Gly732=)
c.4326A>C (p.Gly1442=)
c.4446A>C (p.Gly1482=)
c.3525A>C (p.Gly1175=)
c.3345A>C (p.Gly1115=)
c.3105A>C (p.Gly1035=)
c.2724A>C (p.Gly908=)
c.1587A>C (p.Gly529=)
c.4656A>C (p.Gly1552=)
c.4557A>C (p.Gly1519=)
c.4527A>C (p.Gly1509=)
c.4497A>C (p.Gly1499=)
c.4368A>C (p.Gly1456=)
c.4347A>C (p.Gly1449=)
n.4642A>C
6g.157200920A>GCA452977999ARID1Bc.4536A>G (p.Gly1512=)
c.4605A>G (p.Gly1535=)
c.4824A>G (p.Gly1608=)
c.4575A>G (p.Gly1525=)
c.4287A>G (p.Gly1429=)
c.2853A>G (p.Gly951=)
c.2016A>G (p.Gly672=)
c.1647A>G (p.Gly549=)
n.3158A>G
n.615A>G
c.4695A>G (p.Gly1565=)
n.2692A>G
c.2063A>G
c.1977A>G
n.1361A>G
c.2037A>G (p.Gly679=)
c.2196A>G (p.Gly732=)
c.4326A>G (p.Gly1442=)
c.4446A>G (p.Gly1482=)
c.3525A>G (p.Gly1175=)
c.3345A>G (p.Gly1115=)
c.3105A>G (p.Gly1035=)
c.2724A>G (p.Gly908=)
c.1587A>G (p.Gly529=)
c.4656A>G (p.Gly1552=)
c.4557A>G (p.Gly1519=)
c.4527A>G (p.Gly1509=)
c.4497A>G (p.Gly1499=)
c.4368A>G (p.Gly1456=)
c.4347A>G (p.Gly1449=)
n.4642A>G
6g.157200920A>TCA452978001ARID1Bc.4536A>T (p.Gly1512=)
c.4605A>T (p.Gly1535=)
c.4824A>T (p.Gly1608=)
c.4575A>T (p.Gly1525=)
c.4287A>T (p.Gly1429=)
c.2853A>T (p.Gly951=)
c.2016A>T (p.Gly672=)
c.1647A>T (p.Gly549=)
n.3158A>T
n.615A>T
c.4695A>T (p.Gly1565=)
n.2692A>T
c.2063A>T
c.1977A>T
n.1361A>T
c.2037A>T (p.Gly679=)
c.2196A>T (p.Gly732=)
c.4326A>T (p.Gly1442=)
c.4446A>T (p.Gly1482=)
c.3525A>T (p.Gly1175=)
c.3345A>T (p.Gly1115=)
c.3105A>T (p.Gly1035=)
c.2724A>T (p.Gly908=)
c.1587A>T (p.Gly529=)
c.4656A>T (p.Gly1552=)
c.4557A>T (p.Gly1519=)
c.4527A>T (p.Gly1509=)
c.4497A>T (p.Gly1499=)
c.4368A>T (p.Gly1456=)
c.4347A>T (p.Gly1449=)
n.4642A>T
6g.157200921A>CCA366241231ARID1Bc.4537A>C (p.Ile1513Leu)
c.4606A>C (p.Ile1536Leu)
c.4825A>C (p.Ile1609Leu)
c.4576A>C (p.Ile1526Leu)
c.4288A>C (p.Ile1430Leu)
c.2854A>C (p.Ile952Leu)
c.2017A>C (p.Ile673Leu)
c.1648A>C (p.Ile550Leu)
n.3159A>C
n.616A>C
c.4696A>C (p.Ile1566Leu)
n.2693A>C
c.2064A>C
c.1978A>C
n.1362A>C
c.2038A>C (p.Ile680Leu)
c.2197A>C (p.Ile733Leu)
c.4327A>C (p.Ile1443Leu)
c.4447A>C (p.Ile1483Leu)
c.3526A>C (p.Ile1176Leu)
c.3346A>C (p.Ile1116Leu)
c.3106A>C (p.Ile1036Leu)
c.2725A>C (p.Ile909Leu)
c.1588A>C (p.Ile530Leu)
c.4657A>C (p.Ile1553Leu)
c.4558A>C (p.Ile1520Leu)
c.4528A>C (p.Ile1510Leu)
c.4498A>C (p.Ile1500Leu)
c.4369A>C (p.Ile1457Leu)
c.4348A>C (p.Ile1450Leu)
n.4643A>C
6g.157200921A>GCA366241232ARID1Bc.4537A>G (p.Ile1513Val)
c.4606A>G (p.Ile1536Val)
c.4825A>G (p.Ile1609Val)
c.4576A>G (p.Ile1526Val)
c.4288A>G (p.Ile1430Val)
c.2854A>G (p.Ile952Val)
c.2017A>G (p.Ile673Val)
c.1648A>G (p.Ile550Val)
n.3159A>G
n.616A>G
c.4696A>G (p.Ile1566Val)
n.2693A>G
c.2064A>G
c.1978A>G
n.1362A>G
c.2038A>G (p.Ile680Val)
c.2197A>G (p.Ile733Val)
c.4327A>G (p.Ile1443Val)
c.4447A>G (p.Ile1483Val)
c.3526A>G (p.Ile1176Val)
c.3346A>G (p.Ile1116Val)
c.3106A>G (p.Ile1036Val)
c.2725A>G (p.Ile909Val)
c.1588A>G (p.Ile530Val)
c.4657A>G (p.Ile1553Val)
c.4558A>G (p.Ile1520Val)
c.4528A>G (p.Ile1510Val)
c.4498A>G (p.Ile1500Val)
c.4369A>G (p.Ile1457Val)
c.4348A>G (p.Ile1450Val)
n.4643A>G
gnomAD v4 COSMIC COSMIC
6g.157200921A>TCA366241233ARID1Bc.4537A>T (p.Ile1513Phe)
c.4606A>T (p.Ile1536Phe)
c.4825A>T (p.Ile1609Phe)
c.4576A>T (p.Ile1526Phe)
c.4288A>T (p.Ile1430Phe)
c.2854A>T (p.Ile952Phe)
c.2017A>T (p.Ile673Phe)
c.1648A>T (p.Ile550Phe)
n.3159A>T
n.616A>T
c.4696A>T (p.Ile1566Phe)
n.2693A>T
c.2064A>T
c.1978A>T
n.1362A>T
c.2038A>T (p.Ile680Phe)
c.2197A>T (p.Ile733Phe)
c.4327A>T (p.Ile1443Phe)
c.4447A>T (p.Ile1483Phe)
c.3526A>T (p.Ile1176Phe)
c.3346A>T (p.Ile1116Phe)
c.3106A>T (p.Ile1036Phe)
c.2725A>T (p.Ile909Phe)
c.1588A>T (p.Ile530Phe)
c.4657A>T (p.Ile1553Phe)
c.4558A>T (p.Ile1520Phe)
c.4528A>T (p.Ile1510Phe)
c.4498A>T (p.Ile1500Phe)
c.4369A>T (p.Ile1457Phe)
c.4348A>T (p.Ile1450Phe)
n.4643A>T
6g.157200922T>ACA366241234ARID1Bc.4538T>A (p.Ile1513Asn)
c.4607T>A (p.Ile1536Asn)
c.4826T>A (p.Ile1609Asn)
c.4577T>A (p.Ile1526Asn)
c.4289T>A (p.Ile1430Asn)
c.2855T>A (p.Ile952Asn)
c.2018T>A (p.Ile673Asn)
c.1649T>A (p.Ile550Asn)
n.3160T>A
n.617T>A
c.4697T>A (p.Ile1566Asn)
n.2694T>A
c.2065T>A
c.1979T>A
n.1363T>A
c.2039T>A (p.Ile680Asn)
c.2198T>A (p.Ile733Asn)
c.4328T>A (p.Ile1443Asn)
c.4448T>A (p.Ile1483Asn)
c.3527T>A (p.Ile1176Asn)
c.3347T>A (p.Ile1116Asn)
c.3107T>A (p.Ile1036Asn)
c.2726T>A (p.Ile909Asn)
c.1589T>A (p.Ile530Asn)
c.4658T>A (p.Ile1553Asn)
c.4559T>A (p.Ile1520Asn)
c.4529T>A (p.Ile1510Asn)
c.4499T>A (p.Ile1500Asn)
c.4370T>A (p.Ile1457Asn)
c.4349T>A (p.Ile1450Asn)
n.4644T>A
6g.157200922T>CCA366241235ARID1Bc.4538T>C (p.Ile1513Thr)
c.4607T>C (p.Ile1536Thr)
c.4826T>C (p.Ile1609Thr)
c.4577T>C (p.Ile1526Thr)
c.4289T>C (p.Ile1430Thr)
c.2855T>C (p.Ile952Thr)
c.2018T>C (p.Ile673Thr)
c.1649T>C (p.Ile550Thr)
n.3160T>C
n.617T>C
c.4697T>C (p.Ile1566Thr)
n.2694T>C
c.2065T>C
c.1979T>C
n.1363T>C
c.2039T>C (p.Ile680Thr)
c.2198T>C (p.Ile733Thr)
c.4328T>C (p.Ile1443Thr)
c.4448T>C (p.Ile1483Thr)
c.3527T>C (p.Ile1176Thr)
c.3347T>C (p.Ile1116Thr)
c.3107T>C (p.Ile1036Thr)
c.2726T>C (p.Ile909Thr)
c.1589T>C (p.Ile530Thr)
c.4658T>C (p.Ile1553Thr)
c.4559T>C (p.Ile1520Thr)
c.4529T>C (p.Ile1510Thr)
c.4499T>C (p.Ile1500Thr)
c.4370T>C (p.Ile1457Thr)
c.4349T>C (p.Ile1450Thr)
n.4644T>C
gnomAD v4
6g.157200922T>GCA366241236ARID1Bc.4538T>G (p.Ile1513Ser)
c.4607T>G (p.Ile1536Ser)
c.4826T>G (p.Ile1609Ser)
c.4577T>G (p.Ile1526Ser)
c.4289T>G (p.Ile1430Ser)
c.2855T>G (p.Ile952Ser)
c.2018T>G (p.Ile673Ser)
c.1649T>G (p.Ile550Ser)
n.3160T>G
n.617T>G
c.4697T>G (p.Ile1566Ser)
n.2694T>G
c.2065T>G
c.1979T>G
n.1363T>G
c.2039T>G (p.Ile680Ser)
c.2198T>G (p.Ile733Ser)
c.4328T>G (p.Ile1443Ser)
c.4448T>G (p.Ile1483Ser)
c.3527T>G (p.Ile1176Ser)
c.3347T>G (p.Ile1116Ser)
c.3107T>G (p.Ile1036Ser)
c.2726T>G (p.Ile909Ser)
c.1589T>G (p.Ile530Ser)
c.4658T>G (p.Ile1553Ser)
c.4559T>G (p.Ile1520Ser)
c.4529T>G (p.Ile1510Ser)
c.4499T>G (p.Ile1500Ser)
c.4370T>G (p.Ile1457Ser)
c.4349T>G (p.Ile1450Ser)
n.4644T>G
6g.157200922_157200923delCA2695207266ARID1Bc.4538_4539del (p.Ile1513ThrfsTer15)
c.4607_4608del (p.Ile1536ThrfsTer15)
c.4826_4827del (p.Ile1609ThrfsTer15)
c.4577_4578del (p.Ile1526ThrfsTer15)
c.4289_4290del (p.Ile1430ThrfsTer15)
c.2855_2856del (p.Ile952ThrfsTer15)
c.2018_2019del (p.Ile673ThrfsTer15)
c.1649_1650del (p.Ile550ThrfsTer15)
n.3160_3161del
n.617_618del
c.4697_4698del (p.Ile1566ThrfsTer15)
n.2694_2695del
c.2065_2066del
c.1979_1980del
n.1363_1364del
c.2039_2040del (p.Ile680ThrfsTer15)
c.2198_2199del (p.Ile733ThrfsTer15)
c.4328_4329del (p.Ile1443ThrfsTer15)
c.4448_4449del (p.Ile1483ThrfsTer15)
c.3527_3528del (p.Ile1176ThrfsTer15)
c.3347_3348del (p.Ile1116ThrfsTer15)
c.3107_3108del (p.Ile1036ThrfsTer15)
c.2726_2727del (p.Ile909ThrfsTer15)
c.1589_1590del (p.Ile530ThrfsTer15)
c.4658_4659del (p.Ile1553ThrfsTer15)
c.4559_4560del (p.Ile1520ThrfsTer15)
c.4529_4530del (p.Ile1510ThrfsTer15)
c.4499_4500del (p.Ile1500ThrfsTer15)
c.4370_4371del (p.Ile1457ThrfsTer15)
c.4349_4350del (p.Ile1450ThrfsTer15)
n.4644_4645del
6g.157200923C>ACA4067686ARID1Bc.4539C>A (p.Ile1513=)
c.4608C>A (p.Ile1536=)
c.4827C>A (p.Ile1609=)
c.4578C>A (p.Ile1526=)
c.4290C>A (p.Ile1430=)
c.2856C>A (p.Ile952=)
c.2019C>A (p.Ile673=)
c.1650C>A (p.Ile550=)
n.3161C>A
n.618C>A
c.4698C>A (p.Ile1566=)
n.2695C>A
c.2066C>A
c.1980C>A
n.1364C>A
c.2040C>A (p.Ile680=)
c.2199C>A (p.Ile733=)
c.4329C>A (p.Ile1443=)
c.4449C>A (p.Ile1483=)
c.3528C>A (p.Ile1176=)
c.3348C>A (p.Ile1116=)
c.3108C>A (p.Ile1036=)
c.2727C>A (p.Ile909=)
c.1590C>A (p.Ile530=)
c.4659C>A (p.Ile1553=)
c.4560C>A (p.Ile1520=)
c.4530C>A (p.Ile1510=)
c.4500C>A (p.Ile1500=)
c.4371C>A (p.Ile1457=)
c.4350C>A (p.Ile1450=)
n.4645C>A
dbSNP ExAC gnomAD v2 gnomAD v4
6g.157200923C=CA1675543147ARID1Bc.4539C= (p.Ile1513=)
c.4608C= (p.Ile1536=)
c.4827C= (p.Ile1609=)
c.4578C= (p.Ile1526=)
c.4290C= (p.Ile1430=)
c.2856C= (p.Ile952=)
c.2019C= (p.Ile673=)
c.1650C= (p.Ile550=)
n.3161C=
n.618C=
c.4698C= (p.Ile1566=)
n.2695C=
c.2066C=
c.1980C=
n.1364C=
c.2040C= (p.Ile680=)
c.2199C= (p.Ile733=)
c.4329C= (p.Ile1443=)
c.4449C= (p.Ile1483=)
c.3528C= (p.Ile1176=)
c.3348C= (p.Ile1116=)
c.3108C= (p.Ile1036=)
c.2727C= (p.Ile909=)
c.1590C= (p.Ile530=)
c.4659C= (p.Ile1553=)
c.4560C= (p.Ile1520=)
c.4530C= (p.Ile1510=)
c.4500C= (p.Ile1500=)
c.4371C= (p.Ile1457=)
c.4350C= (p.Ile1450=)
n.4645C=
6g.157200923C>GCA366241237ARID1Bc.4539C>G (p.Ile1513Met)
c.4608C>G (p.Ile1536Met)
c.4827C>G (p.Ile1609Met)
c.4578C>G (p.Ile1526Met)
c.4290C>G (p.Ile1430Met)
c.2856C>G (p.Ile952Met)
c.2019C>G (p.Ile673Met)
c.1650C>G (p.Ile550Met)
n.3161C>G
n.618C>G
c.4698C>G (p.Ile1566Met)
n.2695C>G
c.2066C>G
c.1980C>G
n.1364C>G
c.2040C>G (p.Ile680Met)
c.2199C>G (p.Ile733Met)
c.4329C>G (p.Ile1443Met)
c.4449C>G (p.Ile1483Met)
c.3528C>G (p.Ile1176Met)
c.3348C>G (p.Ile1116Met)
c.3108C>G (p.Ile1036Met)
c.2727C>G (p.Ile909Met)
c.1590C>G (p.Ile530Met)
c.4659C>G (p.Ile1553Met)
c.4560C>G (p.Ile1520Met)
c.4530C>G (p.Ile1510Met)
c.4500C>G (p.Ile1500Met)
c.4371C>G (p.Ile1457Met)
c.4350C>G (p.Ile1450Met)
n.4645C>G
6g.157200923C>TCA452978007ARID1Bc.4539C>T (p.Ile1513=)
c.4608C>T (p.Ile1536=)
c.4827C>T (p.Ile1609=)
c.4578C>T (p.Ile1526=)
c.4290C>T (p.Ile1430=)
c.2856C>T (p.Ile952=)
c.2019C>T (p.Ile673=)
c.1650C>T (p.Ile550=)
n.3161C>T
n.618C>T
c.4698C>T (p.Ile1566=)
n.2695C>T
c.2066C>T
c.1980C>T
n.1364C>T
c.2040C>T (p.Ile680=)
c.2199C>T (p.Ile733=)
c.4329C>T (p.Ile1443=)
c.4449C>T (p.Ile1483=)
c.3528C>T (p.Ile1176=)
c.3348C>T (p.Ile1116=)
c.3108C>T (p.Ile1036=)
c.2727C>T (p.Ile909=)
c.1590C>T (p.Ile530=)
c.4659C>T (p.Ile1553=)
c.4560C>T (p.Ile1520=)
c.4530C>T (p.Ile1510=)
c.4500C>T (p.Ile1500=)
c.4371C>T (p.Ile1457=)
c.4350C>T (p.Ile1450=)
n.4645C>T
6g.157200924C>ACA366241238ARID1Bc.4540C>A (p.Pro1514Thr)
c.4609C>A (p.Pro1537Thr)
c.4828C>A (p.Pro1610Thr)
c.4579C>A (p.Pro1527Thr)
c.4291C>A (p.Pro1431Thr)
c.2857C>A (p.Pro953Thr)
c.2020C>A (p.Pro674Thr)
c.1651C>A (p.Pro551Thr)
n.3162C>A
n.619C>A
c.4699C>A (p.Pro1567Thr)
n.2696C>A
c.2067C>A
c.1981C>A
n.1365C>A
c.2041C>A (p.Pro681Thr)
c.2200C>A (p.Pro734Thr)
c.4330C>A (p.Pro1444Thr)
c.4450C>A (p.Pro1484Thr)
c.3529C>A (p.Pro1177Thr)
c.3349C>A (p.Pro1117Thr)
c.3109C>A (p.Pro1037Thr)
c.2728C>A (p.Pro910Thr)
c.1591C>A (p.Pro531Thr)
c.4660C>A (p.Pro1554Thr)
c.4561C>A (p.Pro1521Thr)
c.4531C>A (p.Pro1511Thr)
c.4501C>A (p.Pro1501Thr)
c.4372C>A (p.Pro1458Thr)
c.4351C>A (p.Pro1451Thr)
n.4646C>A
6g.157200924C>GCA366241240ARID1Bc.4540C>G (p.Pro1514Ala)
c.4609C>G (p.Pro1537Ala)
c.4828C>G (p.Pro1610Ala)
c.4579C>G (p.Pro1527Ala)
c.4291C>G (p.Pro1431Ala)
c.2857C>G (p.Pro953Ala)
c.2020C>G (p.Pro674Ala)
c.1651C>G (p.Pro551Ala)
n.3162C>G
n.619C>G
c.4699C>G (p.Pro1567Ala)
n.2696C>G
c.2067C>G
c.1981C>G
n.1365C>G
c.2041C>G (p.Pro681Ala)
c.2200C>G (p.Pro734Ala)
c.4330C>G (p.Pro1444Ala)
c.4450C>G (p.Pro1484Ala)
c.3529C>G (p.Pro1177Ala)
c.3349C>G (p.Pro1117Ala)
c.3109C>G (p.Pro1037Ala)
c.2728C>G (p.Pro910Ala)
c.1591C>G (p.Pro531Ala)
c.4660C>G (p.Pro1554Ala)
c.4561C>G (p.Pro1521Ala)
c.4531C>G (p.Pro1511Ala)
c.4501C>G (p.Pro1501Ala)
c.4372C>G (p.Pro1458Ala)
c.4351C>G (p.Pro1451Ala)
n.4646C>G
6g.157200924C>TCA366241239ARID1Bc.4540C>T (p.Pro1514Ser)
c.4609C>T (p.Pro1537Ser)
c.4828C>T (p.Pro1610Ser)
c.4579C>T (p.Pro1527Ser)
c.4291C>T (p.Pro1431Ser)
c.2857C>T (p.Pro953Ser)
c.2020C>T (p.Pro674Ser)
c.1651C>T (p.Pro551Ser)
n.3162C>T
n.619C>T
c.4699C>T (p.Pro1567Ser)
n.2696C>T
c.2067C>T
c.1981C>T
n.1365C>T
c.2041C>T (p.Pro681Ser)
c.2200C>T (p.Pro734Ser)
c.4330C>T (p.Pro1444Ser)
c.4450C>T (p.Pro1484Ser)
c.3529C>T (p.Pro1177Ser)
c.3349C>T (p.Pro1117Ser)
c.3109C>T (p.Pro1037Ser)
c.2728C>T (p.Pro910Ser)
c.1591C>T (p.Pro531Ser)
c.4660C>T (p.Pro1554Ser)
c.4561C>T (p.Pro1521Ser)
c.4531C>T (p.Pro1511Ser)
c.4501C>T (p.Pro1501Ser)
c.4372C>T (p.Pro1458Ser)
c.4351C>T (p.Pro1451Ser)
n.4646C>T
gnomAD v4
6g.157200925C>ACA366241241ARID1Bc.4541C>A (p.Pro1514Gln)
c.4610C>A (p.Pro1537Gln)
c.4829C>A (p.Pro1610Gln)
c.4580C>A (p.Pro1527Gln)
c.4292C>A (p.Pro1431Gln)
c.2858C>A (p.Pro953Gln)
c.2021C>A (p.Pro674Gln)
c.1652C>A (p.Pro551Gln)
n.3163C>A
n.620C>A
c.4700C>A (p.Pro1567Gln)
n.2697C>A
c.2068C>A
c.1982C>A
n.1366C>A
c.2042C>A (p.Pro681Gln)
c.2201C>A (p.Pro734Gln)
c.4331C>A (p.Pro1444Gln)
c.4451C>A (p.Pro1484Gln)
c.3530C>A (p.Pro1177Gln)
c.3350C>A (p.Pro1117Gln)
c.3110C>A (p.Pro1037Gln)
c.2729C>A (p.Pro910Gln)
c.1592C>A (p.Pro531Gln)
c.4661C>A (p.Pro1554Gln)
c.4562C>A (p.Pro1521Gln)
c.4532C>A (p.Pro1511Gln)
c.4502C>A (p.Pro1501Gln)
c.4373C>A (p.Pro1458Gln)
c.4352C>A (p.Pro1451Gln)
n.4647C>A
dbSNP gnomAD v4
6g.157200925C=CA1675543148ARID1Bc.4541C= (p.Pro1514=)
c.4610C= (p.Pro1537=)
c.4829C= (p.Pro1610=)
c.4580C= (p.Pro1527=)
c.4292C= (p.Pro1431=)
c.2858C= (p.Pro953=)
c.2021C= (p.Pro674=)
c.1652C= (p.Pro551=)
n.3163C=
n.620C=
c.4700C= (p.Pro1567=)
n.2697C=
c.2068C=
c.1982C=
n.1366C=
c.2042C= (p.Pro681=)
c.2201C= (p.Pro734=)
c.4331C= (p.Pro1444=)
c.4451C= (p.Pro1484=)
c.3530C= (p.Pro1177=)
c.3350C= (p.Pro1117=)
c.3110C= (p.Pro1037=)
c.2729C= (p.Pro910=)
c.1592C= (p.Pro531=)
c.4661C= (p.Pro1554=)
c.4562C= (p.Pro1521=)
c.4532C= (p.Pro1511=)
c.4502C= (p.Pro1501=)
c.4373C= (p.Pro1458=)
c.4352C= (p.Pro1451=)
n.4647C=
6g.157200925C>GCA366241242ARID1Bc.4541C>G (p.Pro1514Arg)
c.4610C>G (p.Pro1537Arg)
c.4829C>G (p.Pro1610Arg)
c.4580C>G (p.Pro1527Arg)
c.4292C>G (p.Pro1431Arg)
c.2858C>G (p.Pro953Arg)
c.2021C>G (p.Pro674Arg)
c.1652C>G (p.Pro551Arg)
n.3163C>G
n.620C>G
c.4700C>G (p.Pro1567Arg)
n.2697C>G
c.2068C>G
c.1982C>G
n.1366C>G
c.2042C>G (p.Pro681Arg)
c.2201C>G (p.Pro734Arg)
c.4331C>G (p.Pro1444Arg)
c.4451C>G (p.Pro1484Arg)
c.3530C>G (p.Pro1177Arg)
c.3350C>G (p.Pro1117Arg)
c.3110C>G (p.Pro1037Arg)
c.2729C>G (p.Pro910Arg)
c.1592C>G (p.Pro531Arg)
c.4661C>G (p.Pro1554Arg)
c.4562C>G (p.Pro1521Arg)
c.4532C>G (p.Pro1511Arg)
c.4502C>G (p.Pro1501Arg)
c.4373C>G (p.Pro1458Arg)
c.4352C>G (p.Pro1451Arg)
n.4647C>G
dbSNP
6g.157200925C>TCA4067687ARID1Bc.4541C>T (p.Pro1514Leu)
c.4610C>T (p.Pro1537Leu)
c.4829C>T (p.Pro1610Leu)
c.4580C>T (p.Pro1527Leu)
c.4292C>T (p.Pro1431Leu)
c.2858C>T (p.Pro953Leu)
c.2021C>T (p.Pro674Leu)
c.1652C>T (p.Pro551Leu)
n.3163C>T
n.620C>T
c.4700C>T (p.Pro1567Leu)
n.2697C>T
c.2068C>T
c.1982C>T
n.1366C>T
c.2042C>T (p.Pro681Leu)
c.2201C>T (p.Pro734Leu)
c.4331C>T (p.Pro1444Leu)
c.4451C>T (p.Pro1484Leu)
c.3530C>T (p.Pro1177Leu)
c.3350C>T (p.Pro1117Leu)
c.3110C>T (p.Pro1037Leu)
c.2729C>T (p.Pro910Leu)
c.1592C>T (p.Pro531Leu)
c.4661C>T (p.Pro1554Leu)
c.4562C>T (p.Pro1521Leu)
c.4532C>T (p.Pro1511Leu)
c.4502C>T (p.Pro1501Leu)
c.4373C>T (p.Pro1458Leu)
c.4352C>T (p.Pro1451Leu)
n.4647C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.157200926G>ACA4067688ARID1Bc.4542G>A (p.Pro1514=)
c.4611G>A (p.Pro1537=)
c.4830G>A (p.Pro1610=)
c.4581G>A (p.Pro1527=)
c.4293G>A (p.Pro1431=)
c.2859G>A (p.Pro953=)
c.2022G>A (p.Pro674=)
c.1653G>A (p.Pro551=)
n.3164G>A
n.621G>A
c.4701G>A (p.Pro1567=)
n.2698G>A
c.2069G>A
c.1983G>A
n.1367G>A
c.2043G>A (p.Pro681=)
c.2202G>A (p.Pro734=)
c.4332G>A (p.Pro1444=)
c.4452G>A (p.Pro1484=)
c.3531G>A (p.Pro1177=)
c.3351G>A (p.Pro1117=)
c.3111G>A (p.Pro1037=)
c.2730G>A (p.Pro910=)
c.1593G>A (p.Pro531=)
c.4662G>A (p.Pro1554=)
c.4563G>A (p.Pro1521=)
c.4533G>A (p.Pro1511=)
c.4503G>A (p.Pro1501=)
c.4374G>A (p.Pro1458=)
c.4353G>A (p.Pro1451=)
n.4648G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.157200926G>CCA452978010ARID1Bc.4542G>C (p.Pro1514=)
c.4611G>C (p.Pro1537=)
c.4830G>C (p.Pro1610=)
c.4581G>C (p.Pro1527=)
c.4293G>C (p.Pro1431=)
c.2859G>C (p.Pro953=)
c.2022G>C (p.Pro674=)
c.1653G>C (p.Pro551=)
n.3164G>C
n.621G>C
c.4701G>C (p.Pro1567=)
n.2698G>C
c.2069G>C
c.1983G>C
n.1367G>C
c.2043G>C (p.Pro681=)
c.2202G>C (p.Pro734=)
c.4332G>C (p.Pro1444=)
c.4452G>C (p.Pro1484=)
c.3531G>C (p.Pro1177=)
c.3351G>C (p.Pro1117=)
c.3111G>C (p.Pro1037=)
c.2730G>C (p.Pro910=)
c.1593G>C (p.Pro531=)
c.4662G>C (p.Pro1554=)
c.4563G>C (p.Pro1521=)
c.4533G>C (p.Pro1511=)
c.4503G>C (p.Pro1501=)
c.4374G>C (p.Pro1458=)
c.4353G>C (p.Pro1451=)
n.4648G>C
dbSNP
6g.157200926G=CA1675543149ARID1Bc.4542G= (p.Pro1514=)
c.4611G= (p.Pro1537=)
c.4830G= (p.Pro1610=)
c.4581G= (p.Pro1527=)
c.4293G= (p.Pro1431=)
c.2859G= (p.Pro953=)
c.2022G= (p.Pro674=)
c.1653G= (p.Pro551=)
n.3164G=
n.621G=
c.4701G= (p.Pro1567=)
n.2698G=
c.2069G=
c.1983G=
n.1367G=
c.2043G= (p.Pro681=)
c.2202G= (p.Pro734=)
c.4332G= (p.Pro1444=)
c.4452G= (p.Pro1484=)
c.3531G= (p.Pro1177=)
c.3351G= (p.Pro1117=)
c.3111G= (p.Pro1037=)
c.2730G= (p.Pro910=)
c.1593G= (p.Pro531=)
c.4662G= (p.Pro1554=)
c.4563G= (p.Pro1521=)
c.4533G= (p.Pro1511=)
c.4503G= (p.Pro1501=)
c.4374G= (p.Pro1458=)
c.4353G= (p.Pro1451=)
n.4648G=
6g.157200926G>TCA452978011ARID1Bc.4542G>T (p.Pro1514=)
c.4611G>T (p.Pro1537=)
c.4830G>T (p.Pro1610=)
c.4581G>T (p.Pro1527=)
c.4293G>T (p.Pro1431=)
c.2859G>T (p.Pro953=)
c.2022G>T (p.Pro674=)
c.1653G>T (p.Pro551=)
n.3164G>T
n.621G>T
c.4701G>T (p.Pro1567=)
n.2698G>T
c.2069G>T
c.1983G>T
n.1367G>T
c.2043G>T (p.Pro681=)
c.2202G>T (p.Pro734=)
c.4332G>T (p.Pro1444=)
c.4452G>T (p.Pro1484=)
c.3531G>T (p.Pro1177=)
c.3351G>T (p.Pro1117=)
c.3111G>T (p.Pro1037=)
c.2730G>T (p.Pro910=)
c.1593G>T (p.Pro531=)
c.4662G>T (p.Pro1554=)
c.4563G>T (p.Pro1521=)
c.4533G>T (p.Pro1511=)
c.4503G>T (p.Pro1501=)
c.4374G>T (p.Pro1458=)
c.4353G>T (p.Pro1451=)
n.4648G>T
6g.157200927C>ACA366241243ARID1Bc.4543C>A (p.Pro1515Thr)
c.4612C>A (p.Pro1538Thr)
c.4831C>A (p.Pro1611Thr)
c.4582C>A (p.Pro1528Thr)
c.4294C>A (p.Pro1432Thr)
c.2860C>A (p.Pro954Thr)
c.2023C>A (p.Pro675Thr)
c.1654C>A (p.Pro552Thr)
n.3165C>A
n.622C>A
c.4702C>A (p.Pro1568Thr)
n.2699C>A
c.2070C>A
c.1984C>A
n.1368C>A
c.2044C>A (p.Pro682Thr)
c.2203C>A (p.Pro735Thr)
c.4333C>A (p.Pro1445Thr)
c.4453C>A (p.Pro1485Thr)
c.3532C>A (p.Pro1178Thr)
c.3352C>A (p.Pro1118Thr)
c.3112C>A (p.Pro1038Thr)
c.2731C>A (p.Pro911Thr)
c.1594C>A (p.Pro532Thr)
c.4663C>A (p.Pro1555Thr)
c.4564C>A (p.Pro1522Thr)
c.4534C>A (p.Pro1512Thr)
c.4504C>A (p.Pro1502Thr)
c.4375C>A (p.Pro1459Thr)
c.4354C>A (p.Pro1452Thr)
n.4649C>A
6g.157200927C>GCA366241245ARID1Bc.4543C>G (p.Pro1515Ala)
c.4612C>G (p.Pro1538Ala)
c.4831C>G (p.Pro1611Ala)
c.4582C>G (p.Pro1528Ala)
c.4294C>G (p.Pro1432Ala)
c.2860C>G (p.Pro954Ala)
c.2023C>G (p.Pro675Ala)
c.1654C>G (p.Pro552Ala)
n.3165C>G
n.622C>G
c.4702C>G (p.Pro1568Ala)
n.2699C>G
c.2070C>G
c.1984C>G
n.1368C>G
c.2044C>G (p.Pro682Ala)
c.2203C>G (p.Pro735Ala)
c.4333C>G (p.Pro1445Ala)
c.4453C>G (p.Pro1485Ala)
c.3532C>G (p.Pro1178Ala)
c.3352C>G (p.Pro1118Ala)
c.3112C>G (p.Pro1038Ala)
c.2731C>G (p.Pro911Ala)
c.1594C>G (p.Pro532Ala)
c.4663C>G (p.Pro1555Ala)
c.4564C>G (p.Pro1522Ala)
c.4534C>G (p.Pro1512Ala)
c.4504C>G (p.Pro1502Ala)
c.4375C>G (p.Pro1459Ala)
c.4354C>G (p.Pro1452Ala)
n.4649C>G
6g.157200927C>TCA366241244ARID1Bc.4543C>T (p.Pro1515Ser)
c.4612C>T (p.Pro1538Ser)
c.4831C>T (p.Pro1611Ser)
c.4582C>T (p.Pro1528Ser)
c.4294C>T (p.Pro1432Ser)
c.2860C>T (p.Pro954Ser)
c.2023C>T (p.Pro675Ser)
c.1654C>T (p.Pro552Ser)
n.3165C>T
n.622C>T
c.4702C>T (p.Pro1568Ser)
n.2699C>T
c.2070C>T
c.1984C>T
n.1368C>T
c.2044C>T (p.Pro682Ser)
c.2203C>T (p.Pro735Ser)
c.4333C>T (p.Pro1445Ser)
c.4453C>T (p.Pro1485Ser)
c.3532C>T (p.Pro1178Ser)
c.3352C>T (p.Pro1118Ser)
c.3112C>T (p.Pro1038Ser)
c.2731C>T (p.Pro911Ser)
c.1594C>T (p.Pro532Ser)
c.4663C>T (p.Pro1555Ser)
c.4564C>T (p.Pro1522Ser)
c.4534C>T (p.Pro1512Ser)
c.4504C>T (p.Pro1502Ser)
c.4375C>T (p.Pro1459Ser)
c.4354C>T (p.Pro1452Ser)
n.4649C>T
dbSNP
6g.157200928C>ACA366241246ARID1Bc.4544C>A (p.Pro1515His)
c.4613C>A (p.Pro1538His)
c.4832C>A (p.Pro1611His)
c.4583C>A (p.Pro1528His)
c.4295C>A (p.Pro1432His)
c.2861C>A (p.Pro954His)
c.2024C>A (p.Pro675His)
c.1655C>A (p.Pro552His)
n.3166C>A
n.623C>A
c.4703C>A (p.Pro1568His)
n.2700C>A
c.2071C>A
c.1985C>A
n.1369C>A
c.2045C>A (p.Pro682His)
c.2204C>A (p.Pro735His)
c.4334C>A (p.Pro1445His)
c.4454C>A (p.Pro1485His)
c.3533C>A (p.Pro1178His)
c.3353C>A (p.Pro1118His)
c.3113C>A (p.Pro1038His)
c.2732C>A (p.Pro911His)
c.1595C>A (p.Pro532His)
c.4664C>A (p.Pro1555His)
c.4565C>A (p.Pro1522His)
c.4535C>A (p.Pro1512His)
c.4505C>A (p.Pro1502His)
c.4376C>A (p.Pro1459His)
c.4355C>A (p.Pro1452His)
n.4650C>A
6g.157200928C>GCA366241247ARID1Bc.4544C>G (p.Pro1515Arg)
c.4613C>G (p.Pro1538Arg)
c.4832C>G (p.Pro1611Arg)
c.4583C>G (p.Pro1528Arg)
c.4295C>G (p.Pro1432Arg)
c.2861C>G (p.Pro954Arg)
c.2024C>G (p.Pro675Arg)
c.1655C>G (p.Pro552Arg)
n.3166C>G
n.623C>G
c.4703C>G (p.Pro1568Arg)
n.2700C>G
c.2071C>G
c.1985C>G
n.1369C>G
c.2045C>G (p.Pro682Arg)
c.2204C>G (p.Pro735Arg)
c.4334C>G (p.Pro1445Arg)
c.4454C>G (p.Pro1485Arg)
c.3533C>G (p.Pro1178Arg)
c.3353C>G (p.Pro1118Arg)
c.3113C>G (p.Pro1038Arg)
c.2732C>G (p.Pro911Arg)
c.1595C>G (p.Pro532Arg)
c.4664C>G (p.Pro1555Arg)
c.4565C>G (p.Pro1522Arg)
c.4535C>G (p.Pro1512Arg)
c.4505C>G (p.Pro1502Arg)
c.4376C>G (p.Pro1459Arg)
c.4355C>G (p.Pro1452Arg)
n.4650C>G
6g.157200928C>TCA366241248ARID1Bc.4544C>T (p.Pro1515Leu)
c.4613C>T (p.Pro1538Leu)
c.4832C>T (p.Pro1611Leu)
c.4583C>T (p.Pro1528Leu)
c.4295C>T (p.Pro1432Leu)
c.2861C>T (p.Pro954Leu)
c.2024C>T (p.Pro675Leu)
c.1655C>T (p.Pro552Leu)
n.3166C>T
n.623C>T
c.4703C>T (p.Pro1568Leu)
n.2700C>T
c.2071C>T
c.1985C>T
n.1369C>T
c.2045C>T (p.Pro682Leu)
c.2204C>T (p.Pro735Leu)
c.4334C>T (p.Pro1445Leu)
c.4454C>T (p.Pro1485Leu)
c.3533C>T (p.Pro1178Leu)
c.3353C>T (p.Pro1118Leu)
c.3113C>T (p.Pro1038Leu)
c.2732C>T (p.Pro911Leu)
c.1595C>T (p.Pro532Leu)
c.4664C>T (p.Pro1555Leu)
c.4565C>T (p.Pro1522Leu)
c.4535C>T (p.Pro1512Leu)
c.4505C>T (p.Pro1502Leu)
c.4376C>T (p.Pro1459Leu)
c.4355C>T (p.Pro1452Leu)
n.4650C>T
6g.157200929T>ACA452978015ARID1Bc.4545T>A (p.Pro1515=)
c.4614T>A (p.Pro1538=)
c.4833T>A (p.Pro1611=)
c.4584T>A (p.Pro1528=)
c.4296T>A (p.Pro1432=)
c.2862T>A (p.Pro954=)
c.2025T>A (p.Pro675=)
c.1656T>A (p.Pro552=)
n.3167T>A
n.624T>A
c.4704T>A (p.Pro1568=)
n.2701T>A
c.2072T>A
c.1986T>A
n.1370T>A
c.2046T>A (p.Pro682=)
c.2205T>A (p.Pro735=)
c.4335T>A (p.Pro1445=)
c.4455T>A (p.Pro1485=)
c.3534T>A (p.Pro1178=)
c.3354T>A (p.Pro1118=)
c.3114T>A (p.Pro1038=)
c.2733T>A (p.Pro911=)
c.1596T>A (p.Pro532=)
c.4665T>A (p.Pro1555=)
c.4566T>A (p.Pro1522=)
c.4536T>A (p.Pro1512=)
c.4506T>A (p.Pro1502=)
c.4377T>A (p.Pro1459=)
c.4356T>A (p.Pro1452=)
n.4651T>A
6g.157200929T>CCA452978016ARID1Bc.4545T>C (p.Pro1515=)
c.4614T>C (p.Pro1538=)
c.4833T>C (p.Pro1611=)
c.4584T>C (p.Pro1528=)
c.4296T>C (p.Pro1432=)
c.2862T>C (p.Pro954=)
c.2025T>C (p.Pro675=)
c.1656T>C (p.Pro552=)
n.3167T>C
n.624T>C
c.4704T>C (p.Pro1568=)
n.2701T>C
c.2072T>C
c.1986T>C
n.1370T>C
c.2046T>C (p.Pro682=)
c.2205T>C (p.Pro735=)
c.4335T>C (p.Pro1445=)
c.4455T>C (p.Pro1485=)
c.3534T>C (p.Pro1178=)
c.3354T>C (p.Pro1118=)
c.3114T>C (p.Pro1038=)
c.2733T>C (p.Pro911=)
c.1596T>C (p.Pro532=)
c.4665T>C (p.Pro1555=)
c.4566T>C (p.Pro1522=)
c.4536T>C (p.Pro1512=)
c.4506T>C (p.Pro1502=)
c.4377T>C (p.Pro1459=)
c.4356T>C (p.Pro1452=)
n.4651T>C
6g.157200929T>GCA452978017ARID1Bc.4545T>G (p.Pro1515=)
c.4614T>G (p.Pro1538=)
c.4833T>G (p.Pro1611=)
c.4584T>G (p.Pro1528=)
c.4296T>G (p.Pro1432=)
c.2862T>G (p.Pro954=)
c.2025T>G (p.Pro675=)
c.1656T>G (p.Pro552=)
n.3167T>G
n.624T>G
c.4704T>G (p.Pro1568=)
n.2701T>G
c.2072T>G
c.1986T>G
n.1370T>G
c.2046T>G (p.Pro682=)
c.2205T>G (p.Pro735=)
c.4335T>G (p.Pro1445=)
c.4455T>G (p.Pro1485=)
c.3534T>G (p.Pro1178=)
c.3354T>G (p.Pro1118=)
c.3114T>G (p.Pro1038=)
c.2733T>G (p.Pro911=)
c.1596T>G (p.Pro532=)
c.4665T>G (p.Pro1555=)
c.4566T>G (p.Pro1522=)
c.4536T>G (p.Pro1512=)
c.4506T>G (p.Pro1502=)
c.4377T>G (p.Pro1459=)
c.4356T>G (p.Pro1452=)
n.4651T>G
6g.157200930C>ACA366241249ARID1Bc.4546C>A (p.Gln1516Lys)
c.4615C>A (p.Gln1539Lys)
c.4834C>A (p.Gln1612Lys)
c.4585C>A (p.Gln1529Lys)
c.4297C>A (p.Gln1433Lys)
c.2863C>A (p.Gln955Lys)
c.2026C>A (p.Gln676Lys)
c.1657C>A (p.Gln553Lys)
n.3168C>A
n.625C>A
c.4705C>A (p.Gln1569Lys)
n.2702C>A
c.2073C>A
c.1987C>A
n.1371C>A
c.2047C>A (p.Gln683Lys)
c.2206C>A (p.Gln736Lys)
c.4336C>A (p.Gln1446Lys)
c.4456C>A (p.Gln1486Lys)
c.3535C>A (p.Gln1179Lys)
c.3355C>A (p.Gln1119Lys)
c.3115C>A (p.Gln1039Lys)
c.2734C>A (p.Gln912Lys)
c.1597C>A (p.Gln533Lys)
c.4666C>A (p.Gln1556Lys)
c.4567C>A (p.Gln1523Lys)
c.4537C>A (p.Gln1513Lys)
c.4507C>A (p.Gln1503Lys)
c.4378C>A (p.Gln1460Lys)
c.4357C>A (p.Gln1453Lys)
n.4652C>A
6g.157200930C=CA1675543150ARID1Bc.4546C= (p.Gln1516=)
c.4615C= (p.Gln1539=)
c.4834C= (p.Gln1612=)
c.4585C= (p.Gln1529=)
c.4297C= (p.Gln1433=)
c.2863C= (p.Gln955=)
c.2026C= (p.Gln676=)
c.1657C= (p.Gln553=)
n.3168C=
n.625C=
c.4705C= (p.Gln1569=)
n.2702C=
c.2073C=
c.1987C=
n.1371C=
c.2047C= (p.Gln683=)
c.2206C= (p.Gln736=)
c.4336C= (p.Gln1446=)
c.4456C= (p.Gln1486=)
c.3535C= (p.Gln1179=)
c.3355C= (p.Gln1119=)
c.3115C= (p.Gln1039=)
c.2734C= (p.Gln912=)
c.1597C= (p.Gln533=)
c.4666C= (p.Gln1556=)
c.4567C= (p.Gln1523=)
c.4537C= (p.Gln1513=)
c.4507C= (p.Gln1503=)
c.4378C= (p.Gln1460=)
c.4357C= (p.Gln1453=)
n.4652C=
6g.157200930C>GCA366241250ARID1Bc.4546C>G (p.Gln1516Glu)
c.4615C>G (p.Gln1539Glu)
c.4834C>G (p.Gln1612Glu)
c.4585C>G (p.Gln1529Glu)
c.4297C>G (p.Gln1433Glu)
c.2863C>G (p.Gln955Glu)
c.2026C>G (p.Gln676Glu)
c.1657C>G (p.Gln553Glu)
n.3168C>G
n.625C>G
c.4705C>G (p.Gln1569Glu)
n.2702C>G
c.2073C>G
c.1987C>G
n.1371C>G
c.2047C>G (p.Gln683Glu)
c.2206C>G (p.Gln736Glu)
c.4336C>G (p.Gln1446Glu)
c.4456C>G (p.Gln1486Glu)
c.3535C>G (p.Gln1179Glu)
c.3355C>G (p.Gln1119Glu)
c.3115C>G (p.Gln1039Glu)
c.2734C>G (p.Gln912Glu)
c.1597C>G (p.Gln533Glu)
c.4666C>G (p.Gln1556Glu)
c.4567C>G (p.Gln1523Glu)
c.4537C>G (p.Gln1513Glu)
c.4507C>G (p.Gln1503Glu)
c.4378C>G (p.Gln1460Glu)
c.4357C>G (p.Gln1453Glu)
n.4652C>G
6g.157200930C>TCA206215ARID1Bc.4546C>T (p.Gln1516Ter)
c.4615C>T (p.Gln1539Ter)
c.4834C>T (p.Gln1612Ter)
c.4585C>T (p.Gln1529Ter)
c.4297C>T (p.Gln1433Ter)
c.2863C>T (p.Gln955Ter)
c.2026C>T (p.Gln676Ter)
c.1657C>T (p.Gln553Ter)
n.3168C>T
n.625C>T
c.4705C>T (p.Gln1569Ter)
n.2702C>T
c.2073C>T
c.1987C>T
n.1371C>T
c.2047C>T (p.Gln683Ter)
c.2206C>T (p.Gln736Ter)
c.4336C>T (p.Gln1446Ter)
c.4456C>T (p.Gln1486Ter)
c.3535C>T (p.Gln1179Ter)
c.3355C>T (p.Gln1119Ter)
c.3115C>T (p.Gln1039Ter)
c.2734C>T (p.Gln912Ter)
c.1597C>T (p.Gln533Ter)
c.4666C>T (p.Gln1556Ter)
c.4567C>T (p.Gln1523Ter)
c.4537C>T (p.Gln1513Ter)
c.4507C>T (p.Gln1503Ter)
c.4378C>T (p.Gln1460Ter)
c.4357C>T (p.Gln1453Ter)
n.4652C>T
ClinVar dbSNP
6g.157200931A>CCA366241251ARID1Bc.4547A>C (p.Gln1516Pro)
c.4616A>C (p.Gln1539Pro)
c.4835A>C (p.Gln1612Pro)
c.4586A>C (p.Gln1529Pro)
c.4298A>C (p.Gln1433Pro)
c.2864A>C (p.Gln955Pro)
c.2027A>C (p.Gln676Pro)
c.1658A>C (p.Gln553Pro)
n.3169A>C
n.626A>C
c.4706A>C (p.Gln1569Pro)
n.2703A>C
c.2074A>C
c.1988A>C
n.1372A>C
c.2048A>C (p.Gln683Pro)
c.2207A>C (p.Gln736Pro)
c.4337A>C (p.Gln1446Pro)
c.4457A>C (p.Gln1486Pro)
c.3536A>C (p.Gln1179Pro)
c.3356A>C (p.Gln1119Pro)
c.3116A>C (p.Gln1039Pro)
c.2735A>C (p.Gln912Pro)
c.1598A>C (p.Gln533Pro)
c.4667A>C (p.Gln1556Pro)
c.4568A>C (p.Gln1523Pro)
c.4538A>C (p.Gln1513Pro)
c.4508A>C (p.Gln1503Pro)
c.4379A>C (p.Gln1460Pro)
c.4358A>C (p.Gln1453Pro)
n.4653A>C
6g.157200931A>GCA366241252ARID1Bc.4547A>G (p.Gln1516Arg)
c.4616A>G (p.Gln1539Arg)
c.4835A>G (p.Gln1612Arg)
c.4586A>G (p.Gln1529Arg)
c.4298A>G (p.Gln1433Arg)
c.2864A>G (p.Gln955Arg)
c.2027A>G (p.Gln676Arg)
c.1658A>G (p.Gln553Arg)
n.3169A>G
n.626A>G
c.4706A>G (p.Gln1569Arg)
n.2703A>G
c.2074A>G
c.1988A>G
n.1372A>G
c.2048A>G (p.Gln683Arg)
c.2207A>G (p.Gln736Arg)
c.4337A>G (p.Gln1446Arg)
c.4457A>G (p.Gln1486Arg)
c.3536A>G (p.Gln1179Arg)
c.3356A>G (p.Gln1119Arg)
c.3116A>G (p.Gln1039Arg)
c.2735A>G (p.Gln912Arg)
c.1598A>G (p.Gln533Arg)
c.4667A>G (p.Gln1556Arg)
c.4568A>G (p.Gln1523Arg)
c.4538A>G (p.Gln1513Arg)
c.4508A>G (p.Gln1503Arg)
c.4379A>G (p.Gln1460Arg)
c.4358A>G (p.Gln1453Arg)
n.4653A>G
dbSNP
6g.157200931A>TCA366241253ARID1Bc.4547A>T (p.Gln1516Leu)
c.4616A>T (p.Gln1539Leu)
c.4835A>T (p.Gln1612Leu)
c.4586A>T (p.Gln1529Leu)
c.4298A>T (p.Gln1433Leu)
c.2864A>T (p.Gln955Leu)
c.2027A>T (p.Gln676Leu)
c.1658A>T (p.Gln553Leu)
n.3169A>T
n.626A>T
c.4706A>T (p.Gln1569Leu)
n.2703A>T
c.2074A>T
c.1988A>T
n.1372A>T
c.2048A>T (p.Gln683Leu)
c.2207A>T (p.Gln736Leu)
c.4337A>T (p.Gln1446Leu)
c.4457A>T (p.Gln1486Leu)
c.3536A>T (p.Gln1179Leu)
c.3356A>T (p.Gln1119Leu)
c.3116A>T (p.Gln1039Leu)
c.2735A>T (p.Gln912Leu)
c.1598A>T (p.Gln533Leu)
c.4667A>T (p.Gln1556Leu)
c.4568A>T (p.Gln1523Leu)
c.4538A>T (p.Gln1513Leu)
c.4508A>T (p.Gln1503Leu)
c.4379A>T (p.Gln1460Leu)
c.4358A>T (p.Gln1453Leu)
n.4653A>T
6g.157200931_157200934delinsAGATCA1675543151ARID1Bc.4547_4550delinsAGAT (p.Gln1516=)
c.4616_4619delinsAGAT (p.Gln1539=)
c.4835_4838delinsAGAT (p.Gln1612=)
c.4586_4589delinsAGAT (p.Gln1529=)
c.4298_4301delinsAGAT (p.Gln1433=)
c.2864_2867delinsAGAT (p.Gln955=)
c.2027_2030delinsAGAT (p.Gln676=)
c.1658_1661delinsAGAT (p.Gln553=)
n.3169_3172delinsAGAT
n.626_629delinsAGAT
c.4706_4709delinsAGAT (p.Gln1569=)
n.2703_2706delinsAGAT
c.2074_2077delinsAGAT
c.1988_1991delinsAGAT
n.1372_1375delinsAGAT
c.2048_2051delinsAGAT (p.Gln683=)
c.2207_2210delinsAGAT (p.Gln736=)
c.4337_4340delinsAGAT (p.Gln1446=)
c.4457_4460delinsAGAT (p.Gln1486=)
c.3536_3539delinsAGAT (p.Gln1179=)
c.3356_3359delinsAGAT (p.Gln1119=)
c.3116_3119delinsAGAT (p.Gln1039=)
c.2735_2738delinsAGAT (p.Gln912=)
c.1598_1601delinsAGAT (p.Gln533=)
c.4667_4670delinsAGAT (p.Gln1556=)
c.4568_4571delinsAGAT (p.Gln1523=)
c.4538_4541delinsAGAT (p.Gln1513=)
c.4508_4511delinsAGAT (p.Gln1503=)
c.4379_4382delinsAGAT (p.Gln1460=)
c.4358_4361delinsAGAT (p.Gln1453=)
n.4653_4656delinsAGAT
6g.157200932G>ACA452978019ARID1Bc.4548G>A (p.Gln1516=)
c.4617G>A (p.Gln1539=)
c.4836G>A (p.Gln1612=)
c.4587G>A (p.Gln1529=)
c.4299G>A (p.Gln1433=)
c.2865G>A (p.Gln955=)
c.2028G>A (p.Gln676=)
c.1659G>A (p.Gln553=)
n.3170G>A
n.627G>A
c.4707G>A (p.Gln1569=)
n.2704G>A
c.2075G>A
c.1989G>A
n.1373G>A
c.2049G>A (p.Gln683=)
c.2208G>A (p.Gln736=)
c.4338G>A (p.Gln1446=)
c.4458G>A (p.Gln1486=)
c.3537G>A (p.Gln1179=)
c.3357G>A (p.Gln1119=)
c.3117G>A (p.Gln1039=)
c.2736G>A (p.Gln912=)
c.1599G>A (p.Gln533=)
c.4668G>A (p.Gln1556=)
c.4569G>A (p.Gln1523=)
c.4539G>A (p.Gln1513=)
c.4509G>A (p.Gln1503=)
c.4380G>A (p.Gln1460=)
c.4359G>A (p.Gln1453=)
n.4654G>A
6g.157200932G>CCA366241254ARID1Bc.4548G>C (p.Gln1516His)
c.4617G>C (p.Gln1539His)
c.4836G>C (p.Gln1612His)
c.4587G>C (p.Gln1529His)
c.4299G>C (p.Gln1433His)
c.2865G>C (p.Gln955His)
c.2028G>C (p.Gln676His)
c.1659G>C (p.Gln553His)
n.3170G>C
n.627G>C
c.4707G>C (p.Gln1569His)
n.2704G>C
c.2075G>C
c.1989G>C
n.1373G>C
c.2049G>C (p.Gln683His)
c.2208G>C (p.Gln736His)
c.4338G>C (p.Gln1446His)
c.4458G>C (p.Gln1486His)
c.3537G>C (p.Gln1179His)
c.3357G>C (p.Gln1119His)
c.3117G>C (p.Gln1039His)
c.2736G>C (p.Gln912His)
c.1599G>C (p.Gln533His)
c.4668G>C (p.Gln1556His)
c.4569G>C (p.Gln1523His)
c.4539G>C (p.Gln1513His)
c.4509G>C (p.Gln1503His)
c.4380G>C (p.Gln1460His)
c.4359G>C (p.Gln1453His)
n.4654G>C
6g.157200932G>TCA366241255ARID1Bc.4548G>T (p.Gln1516His)
c.4617G>T (p.Gln1539His)
c.4836G>T (p.Gln1612His)
c.4587G>T (p.Gln1529His)
c.4299G>T (p.Gln1433His)
c.2865G>T (p.Gln955His)
c.2028G>T (p.Gln676His)
c.1659G>T (p.Gln553His)
n.3170G>T
n.627G>T
c.4707G>T (p.Gln1569His)
n.2704G>T
c.2075G>T
c.1989G>T
n.1373G>T
c.2049G>T (p.Gln683His)
c.2208G>T (p.Gln736His)
c.4338G>T (p.Gln1446His)
c.4458G>T (p.Gln1486His)
c.3537G>T (p.Gln1179His)
c.3357G>T (p.Gln1119His)
c.3117G>T (p.Gln1039His)
c.2736G>T (p.Gln912His)
c.1599G>T (p.Gln533His)
c.4668G>T (p.Gln1556His)
c.4569G>T (p.Gln1523His)
c.4539G>T (p.Gln1513His)
c.4509G>T (p.Gln1503His)
c.4380G>T (p.Gln1460His)
c.4359G>T (p.Gln1453His)
n.4654G>T
6g.157200936_157200938delCA571903909ARID1Bc.4552_4554del (p.Met1518del)
c.4621_4623del (p.Met1541del)
c.4840_4842del (p.Met1614del)
c.4591_4593del (p.Met1531del)
c.4303_4305del (p.Met1435del)
c.2869_2871del (p.Met957del)
c.2032_2034del (p.Met678del)
c.1663_1665del (p.Met555del)
n.3174_3176del
n.631_633del
c.4711_4713del (p.Met1571del)
n.2708_2710del
c.2079_2081del
c.1993_1995del
n.1377_1379del
c.2053_2055del (p.Met685del)
c.2212_2214del (p.Met738del)
c.4342_4344del (p.Met1448del)
c.4462_4464del (p.Met1488del)
c.3541_3543del (p.Met1181del)
c.3361_3363del (p.Met1121del)
c.3121_3123del (p.Met1041del)
c.2740_2742del (p.Met914del)
c.1603_1605del (p.Met535del)
c.4672_4674del (p.Met1558del)
c.4573_4575del (p.Met1525del)
c.4543_4545del (p.Met1515del)
c.4513_4515del (p.Met1505del)
c.4384_4386del (p.Met1462del)
c.4363_4365del (p.Met1455del)
n.4658_4660del
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.157200933A>CCA366241256ARID1Bc.4549A>C (p.Met1517Leu)
c.4618A>C (p.Met1540Leu)
c.4837A>C (p.Met1613Leu)
c.4588A>C (p.Met1530Leu)
c.4300A>C (p.Met1434Leu)
c.2866A>C (p.Met956Leu)
c.2029A>C (p.Met677Leu)
c.1660A>C (p.Met554Leu)
n.3171A>C
n.628A>C
c.4708A>C (p.Met1570Leu)
n.2705A>C
c.2076A>C
c.1990A>C
n.1374A>C
c.2050A>C (p.Met684Leu)
c.2209A>C (p.Met737Leu)
c.4339A>C (p.Met1447Leu)
c.4459A>C (p.Met1487Leu)
c.3538A>C (p.Met1180Leu)
c.3358A>C (p.Met1120Leu)
c.3118A>C (p.Met1040Leu)
c.2737A>C (p.Met913Leu)
c.1600A>C (p.Met534Leu)
c.4669A>C (p.Met1557Leu)
c.4570A>C (p.Met1524Leu)
c.4540A>C (p.Met1514Leu)
c.4510A>C (p.Met1504Leu)
c.4381A>C (p.Met1461Leu)
c.4360A>C (p.Met1454Leu)
n.4655A>C
6g.157200933A>GCA366241258ARID1Bc.4549A>G (p.Met1517Val)
c.4618A>G (p.Met1540Val)
c.4837A>G (p.Met1613Val)
c.4588A>G (p.Met1530Val)
c.4300A>G (p.Met1434Val)
c.2866A>G (p.Met956Val)
c.2029A>G (p.Met677Val)
c.1660A>G (p.Met554Val)
n.3171A>G
n.628A>G
c.4708A>G (p.Met1570Val)
n.2705A>G
c.2076A>G
c.1990A>G
n.1374A>G
c.2050A>G (p.Met684Val)
c.2209A>G (p.Met737Val)
c.4339A>G (p.Met1447Val)
c.4459A>G (p.Met1487Val)
c.3538A>G (p.Met1180Val)
c.3358A>G (p.Met1120Val)
c.3118A>G (p.Met1040Val)
c.2737A>G (p.Met913Val)
c.1600A>G (p.Met534Val)
c.4669A>G (p.Met1557Val)
c.4570A>G (p.Met1524Val)
c.4540A>G (p.Met1514Val)
c.4510A>G (p.Met1504Val)
c.4381A>G (p.Met1461Val)
c.4360A>G (p.Met1454Val)
n.4655A>G
6g.157200933A>TCA366241257ARID1Bc.4549A>T (p.Met1517Leu)
c.4618A>T (p.Met1540Leu)
c.4837A>T (p.Met1613Leu)
c.4588A>T (p.Met1530Leu)
c.4300A>T (p.Met1434Leu)
c.2866A>T (p.Met956Leu)
c.2029A>T (p.Met677Leu)
c.1660A>T (p.Met554Leu)
n.3171A>T
n.628A>T
c.4708A>T (p.Met1570Leu)
n.2705A>T
c.2076A>T
c.1990A>T
n.1374A>T
c.2050A>T (p.Met684Leu)
c.2209A>T (p.Met737Leu)
c.4339A>T (p.Met1447Leu)
c.4459A>T (p.Met1487Leu)
c.3538A>T (p.Met1180Leu)
c.3358A>T (p.Met1120Leu)
c.3118A>T (p.Met1040Leu)
c.2737A>T (p.Met913Leu)
c.1600A>T (p.Met534Leu)
c.4669A>T (p.Met1557Leu)
c.4570A>T (p.Met1524Leu)
c.4540A>T (p.Met1514Leu)
c.4510A>T (p.Met1504Leu)
c.4381A>T (p.Met1461Leu)
c.4360A>T (p.Met1454Leu)
n.4655A>T
6g.157200934T>ACA366241259ARID1Bc.4550T>A (p.Met1517Lys)
c.4619T>A (p.Met1540Lys)
c.4838T>A (p.Met1613Lys)
c.4589T>A (p.Met1530Lys)
c.4301T>A (p.Met1434Lys)
c.2867T>A (p.Met956Lys)
c.2030T>A (p.Met677Lys)
c.1661T>A (p.Met554Lys)
n.3172T>A
n.629T>A
c.4709T>A (p.Met1570Lys)
n.2706T>A
c.2077T>A
c.1991T>A
n.1375T>A
c.2051T>A (p.Met684Lys)
c.2210T>A (p.Met737Lys)
c.4340T>A (p.Met1447Lys)
c.4460T>A (p.Met1487Lys)
c.3539T>A (p.Met1180Lys)
c.3359T>A (p.Met1120Lys)
c.3119T>A (p.Met1040Lys)
c.2738T>A (p.Met913Lys)
c.1601T>A (p.Met534Lys)
c.4670T>A (p.Met1557Lys)
c.4571T>A (p.Met1524Lys)
c.4541T>A (p.Met1514Lys)
c.4511T>A (p.Met1504Lys)
c.4382T>A (p.Met1461Lys)
c.4361T>A (p.Met1454Lys)
n.4656T>A
6g.157200934T>CCA366241260ARID1Bc.4550T>C (p.Met1517Thr)
c.4619T>C (p.Met1540Thr)
c.4838T>C (p.Met1613Thr)
c.4589T>C (p.Met1530Thr)
c.4301T>C (p.Met1434Thr)
c.2867T>C (p.Met956Thr)
c.2030T>C (p.Met677Thr)
c.1661T>C (p.Met554Thr)
n.3172T>C
n.629T>C
c.4709T>C (p.Met1570Thr)
n.2706T>C
c.2077T>C
c.1991T>C
n.1375T>C
c.2051T>C (p.Met684Thr)
c.2210T>C (p.Met737Thr)
c.4340T>C (p.Met1447Thr)
c.4460T>C (p.Met1487Thr)
c.3539T>C (p.Met1180Thr)
c.3359T>C (p.Met1120Thr)
c.3119T>C (p.Met1040Thr)
c.2738T>C (p.Met913Thr)
c.1601T>C (p.Met534Thr)
c.4670T>C (p.Met1557Thr)
c.4571T>C (p.Met1524Thr)
c.4541T>C (p.Met1514Thr)
c.4511T>C (p.Met1504Thr)
c.4382T>C (p.Met1461Thr)
c.4361T>C (p.Met1454Thr)
n.4656T>C
6g.157200934T>GCA366241261ARID1Bc.4550T>G (p.Met1517Arg)
c.4619T>G (p.Met1540Arg)
c.4838T>G (p.Met1613Arg)
c.4589T>G (p.Met1530Arg)
c.4301T>G (p.Met1434Arg)
c.2867T>G (p.Met956Arg)
c.2030T>G (p.Met677Arg)
c.1661T>G (p.Met554Arg)
n.3172T>G
n.629T>G
c.4709T>G (p.Met1570Arg)
n.2706T>G
c.2077T>G
c.1991T>G
n.1375T>G
c.2051T>G (p.Met684Arg)
c.2210T>G (p.Met737Arg)
c.4340T>G (p.Met1447Arg)
c.4460T>G (p.Met1487Arg)
c.3539T>G (p.Met1180Arg)
c.3359T>G (p.Met1120Arg)
c.3119T>G (p.Met1040Arg)
c.2738T>G (p.Met913Arg)
c.1601T>G (p.Met534Arg)
c.4670T>G (p.Met1557Arg)
c.4571T>G (p.Met1524Arg)
c.4541T>G (p.Met1514Arg)
c.4511T>G (p.Met1504Arg)
c.4382T>G (p.Met1461Arg)
c.4361T>G (p.Met1454Arg)
n.4656T>G
6g.157200935G>ACA366241262ARID1Bc.4551G>A (p.Met1517Ile)
c.4620G>A (p.Met1540Ile)
c.4839G>A (p.Met1613Ile)
c.4590G>A (p.Met1530Ile)
c.4302G>A (p.Met1434Ile)
c.2868G>A (p.Met956Ile)
c.2031G>A (p.Met677Ile)
c.1662G>A (p.Met554Ile)
n.3173G>A
n.630G>A
c.4710G>A (p.Met1570Ile)
n.2707G>A
c.2078G>A
c.1992G>A
n.1376G>A
c.2052G>A (p.Met684Ile)
c.2211G>A (p.Met737Ile)
c.4341G>A (p.Met1447Ile)
c.4461G>A (p.Met1487Ile)
c.3540G>A (p.Met1180Ile)
c.3360G>A (p.Met1120Ile)
c.3120G>A (p.Met1040Ile)
c.2739G>A (p.Met913Ile)
c.1602G>A (p.Met534Ile)
c.4671G>A (p.Met1557Ile)
c.4572G>A (p.Met1524Ile)
c.4542G>A (p.Met1514Ile)
c.4512G>A (p.Met1504Ile)
c.4383G>A (p.Met1461Ile)
c.4362G>A (p.Met1454Ile)
n.4657G>A
ClinVar dbSNP gnomAD v2 gnomAD v4
6g.157200935G>CCA4067689ARID1Bc.4551G>C (p.Met1517Ile)
c.4620G>C (p.Met1540Ile)
c.4839G>C (p.Met1613Ile)
c.4590G>C (p.Met1530Ile)
c.4302G>C (p.Met1434Ile)
c.2868G>C (p.Met956Ile)
c.2031G>C (p.Met677Ile)
c.1662G>C (p.Met554Ile)
n.3173G>C
n.630G>C
c.4710G>C (p.Met1570Ile)
n.2707G>C
c.2078G>C
c.1992G>C
n.1376G>C
c.2052G>C (p.Met684Ile)
c.2211G>C (p.Met737Ile)
c.4341G>C (p.Met1447Ile)
c.4461G>C (p.Met1487Ile)
c.3540G>C (p.Met1180Ile)
c.3360G>C (p.Met1120Ile)
c.3120G>C (p.Met1040Ile)
c.2739G>C (p.Met913Ile)
c.1602G>C (p.Met534Ile)
c.4671G>C (p.Met1557Ile)
c.4572G>C (p.Met1524Ile)
c.4542G>C (p.Met1514Ile)
c.4512G>C (p.Met1504Ile)
c.4383G>C (p.Met1461Ile)
c.4362G>C (p.Met1454Ile)
n.4657G>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.157200935G=CA1675543152ARID1Bc.4551G= (p.Met1517=)
c.4620G= (p.Met1540=)
c.4839G= (p.Met1613=)
c.4590G= (p.Met1530=)
c.4302G= (p.Met1434=)
c.2868G= (p.Met956=)
c.2031G= (p.Met677=)
c.1662G= (p.Met554=)
n.3173G=
n.630G=
c.4710G= (p.Met1570=)
n.2707G=
c.2078G=
c.1992G=
n.1376G=
c.2052G= (p.Met684=)
c.2211G= (p.Met737=)
c.4341G= (p.Met1447=)
c.4461G= (p.Met1487=)
c.3540G= (p.Met1180=)
c.3360G= (p.Met1120=)
c.3120G= (p.Met1040=)
c.2739G= (p.Met913=)
c.1602G= (p.Met534=)
c.4671G= (p.Met1557=)
c.4572G= (p.Met1524=)
c.4542G= (p.Met1514=)
c.4512G= (p.Met1504=)
c.4383G= (p.Met1461=)
c.4362G= (p.Met1454=)
n.4657G=
6g.157200935G>TCA366241263ARID1Bc.4551G>T (p.Met1517Ile)
c.4620G>T (p.Met1540Ile)
c.4839G>T (p.Met1613Ile)
c.4590G>T (p.Met1530Ile)
c.4302G>T (p.Met1434Ile)
c.2868G>T (p.Met956Ile)
c.2031G>T (p.Met677Ile)
c.1662G>T (p.Met554Ile)
n.3173G>T
n.630G>T
c.4710G>T (p.Met1570Ile)
n.2707G>T
c.2078G>T
c.1992G>T
n.1376G>T
c.2052G>T (p.Met684Ile)
c.2211G>T (p.Met737Ile)
c.4341G>T (p.Met1447Ile)
c.4461G>T (p.Met1487Ile)
c.3540G>T (p.Met1180Ile)
c.3360G>T (p.Met1120Ile)
c.3120G>T (p.Met1040Ile)
c.2739G>T (p.Met913Ile)
c.1602G>T (p.Met534Ile)
c.4671G>T (p.Met1557Ile)
c.4572G>T (p.Met1524Ile)
c.4542G>T (p.Met1514Ile)
c.4512G>T (p.Met1504Ile)
c.4383G>T (p.Met1461Ile)
c.4362G>T (p.Met1454Ile)
n.4657G>T
6g.157200936A=CA1675543153ARID1Bc.4552A= (p.Met1518=)
c.4621A= (p.Met1541=)
c.4840A= (p.Met1614=)
c.4591A= (p.Met1531=)
c.4303A= (p.Met1435=)
c.2869A= (p.Met957=)
c.2032A= (p.Met678=)
c.1663A= (p.Met555=)
n.3174A=
n.631A=
c.4711A= (p.Met1571=)
n.2708A=
c.2079A=
c.1993A=
n.1377A=
c.2053A= (p.Met685=)
c.2212A= (p.Met738=)
c.4342A= (p.Met1448=)
c.4462A= (p.Met1488=)
c.3541A= (p.Met1181=)
c.3361A= (p.Met1121=)
c.3121A= (p.Met1041=)
c.2740A= (p.Met914=)
c.1603A= (p.Met535=)
c.4672A= (p.Met1558=)
c.4573A= (p.Met1525=)
c.4543A= (p.Met1515=)
c.4513A= (p.Met1505=)
c.4384A= (p.Met1462=)
c.4363A= (p.Met1455=)
n.4658A=
6g.157200936A>CCA366241264ARID1Bc.4552A>C (p.Met1518Leu)
c.4621A>C (p.Met1541Leu)
c.4840A>C (p.Met1614Leu)
c.4591A>C (p.Met1531Leu)
c.4303A>C (p.Met1435Leu)
c.2869A>C (p.Met957Leu)
c.2032A>C (p.Met678Leu)
c.1663A>C (p.Met555Leu)
n.3174A>C
n.631A>C
c.4711A>C (p.Met1571Leu)
n.2708A>C
c.2079A>C
c.1993A>C
n.1377A>C
c.2053A>C (p.Met685Leu)
c.2212A>C (p.Met738Leu)
c.4342A>C (p.Met1448Leu)
c.4462A>C (p.Met1488Leu)
c.3541A>C (p.Met1181Leu)
c.3361A>C (p.Met1121Leu)
c.3121A>C (p.Met1041Leu)
c.2740A>C (p.Met914Leu)
c.1603A>C (p.Met535Leu)
c.4672A>C (p.Met1558Leu)
c.4573A>C (p.Met1525Leu)
c.4543A>C (p.Met1515Leu)
c.4513A>C (p.Met1505Leu)
c.4384A>C (p.Met1462Leu)
c.4363A>C (p.Met1455Leu)
n.4658A>C
6g.157200936A>GCA366241265ARID1Bc.4552A>G (p.Met1518Val)
c.4621A>G (p.Met1541Val)
c.4840A>G (p.Met1614Val)
c.4591A>G (p.Met1531Val)
c.4303A>G (p.Met1435Val)
c.2869A>G (p.Met957Val)
c.2032A>G (p.Met678Val)
c.1663A>G (p.Met555Val)
n.3174A>G
n.631A>G
c.4711A>G (p.Met1571Val)
n.2708A>G
c.2079A>G
c.1993A>G
n.1377A>G
c.2053A>G (p.Met685Val)
c.2212A>G (p.Met738Val)
c.4342A>G (p.Met1448Val)
c.4462A>G (p.Met1488Val)
c.3541A>G (p.Met1181Val)
c.3361A>G (p.Met1121Val)
c.3121A>G (p.Met1041Val)
c.2740A>G (p.Met914Val)
c.1603A>G (p.Met535Val)
c.4672A>G (p.Met1558Val)
c.4573A>G (p.Met1525Val)
c.4543A>G (p.Met1515Val)
c.4513A>G (p.Met1505Val)
c.4384A>G (p.Met1462Val)
c.4363A>G (p.Met1455Val)
n.4658A>G
ClinVar
6g.157200936A>TCA366241266ARID1Bc.4552A>T (p.Met1518Leu)
c.4621A>T (p.Met1541Leu)
c.4840A>T (p.Met1614Leu)
c.4591A>T (p.Met1531Leu)
c.4303A>T (p.Met1435Leu)
c.2869A>T (p.Met957Leu)
c.2032A>T (p.Met678Leu)
c.1663A>T (p.Met555Leu)
n.3174A>T
n.631A>T
c.4711A>T (p.Met1571Leu)
n.2708A>T
c.2079A>T
c.1993A>T
n.1377A>T
c.2053A>T (p.Met685Leu)
c.2212A>T (p.Met738Leu)
c.4342A>T (p.Met1448Leu)
c.4462A>T (p.Met1488Leu)
c.3541A>T (p.Met1181Leu)
c.3361A>T (p.Met1121Leu)
c.3121A>T (p.Met1041Leu)
c.2740A>T (p.Met914Leu)
c.1603A>T (p.Met535Leu)
c.4672A>T (p.Met1558Leu)
c.4573A>T (p.Met1525Leu)
c.4543A>T (p.Met1515Leu)
c.4513A>T (p.Met1505Leu)
c.4384A>T (p.Met1462Leu)
c.4363A>T (p.Met1455Leu)
n.4658A>T
dbSNP gnomAD v3 gnomAD v4
6g.157200936_157200937delinsATCA1675543154ARID1Bc.4552_4553delinsAT (p.Met1518=)
c.4621_4622delinsAT (p.Met1541=)
c.4840_4841delinsAT (p.Met1614=)
c.4591_4592delinsAT (p.Met1531=)
c.4303_4304delinsAT (p.Met1435=)
c.2869_2870delinsAT (p.Met957=)
c.2032_2033delinsAT (p.Met678=)
c.1663_1664delinsAT (p.Met555=)
n.3174_3175delinsAT
n.631_632delinsAT
c.4711_4712delinsAT (p.Met1571=)
n.2708_2709delinsAT
c.2079_2080delinsAT
c.1993_1994delinsAT
n.1377_1378delinsAT
c.2053_2054delinsAT (p.Met685=)
c.2212_2213delinsAT (p.Met738=)
c.4342_4343delinsAT (p.Met1448=)
c.4462_4463delinsAT (p.Met1488=)
c.3541_3542delinsAT (p.Met1181=)
c.3361_3362delinsAT (p.Met1121=)
c.3121_3122delinsAT (p.Met1041=)
c.2740_2741delinsAT (p.Met914=)
c.1603_1604delinsAT (p.Met535=)
c.4672_4673delinsAT (p.Met1558=)
c.4573_4574delinsAT (p.Met1525=)
c.4543_4544delinsAT (p.Met1515=)
c.4513_4514delinsAT (p.Met1505=)
c.4384_4385delinsAT (p.Met1462=)
c.4363_4364delinsAT (p.Met1455=)
n.4658_4659delinsAT
6g.157200937delCA1139659897ARID1Bc.4553del (p.Met1518ArgfsTer?)
c.4622del (p.Met1541ArgfsTer?)
c.4841del (p.Met1614ArgfsTer?)
c.4592del (p.Met1531ArgfsTer?)
c.4304del (p.Met1435ArgfsTer?)
c.2870del (p.Met957ArgfsTer?)
c.2033del (p.Met678ArgfsTer?)
c.1664del (p.Met555ArgfsTer?)
n.3175del
n.632del
c.4712del (p.Met1571ArgfsTer?)
n.2709del
c.2080del
c.1994del
n.1378del
c.2054del (p.Met685ArgfsTer?)
c.2213del (p.Met738ArgfsTer?)
c.4343del (p.Met1448ArgfsTer?)
c.4463del (p.Met1488ArgfsTer?)
c.3542del (p.Met1181ArgfsTer?)
c.3362del (p.Met1121ArgfsTer?)
c.3122del (p.Met1041ArgfsTer?)
c.2741del (p.Met914ArgfsTer?)
c.1604del (p.Met535ArgfsTer?)
c.4673del (p.Met1558ArgfsTer?)
c.4574del (p.Met1525ArgfsTer?)
c.4544del (p.Met1515ArgfsTer?)
c.4514del (p.Met1505ArgfsTer?)
c.4385del (p.Met1462ArgfsTer?)
c.4364del (p.Met1455ArgfsTer?)
n.4659del
ClinVar dbSNP
6g.157200937T>ACA366241267ARID1Bc.4553T>A (p.Met1518Lys)
c.4622T>A (p.Met1541Lys)
c.4841T>A (p.Met1614Lys)
c.4592T>A (p.Met1531Lys)
c.4304T>A (p.Met1435Lys)
c.2870T>A (p.Met957Lys)
c.2033T>A (p.Met678Lys)
c.1664T>A (p.Met555Lys)
n.3175T>A
n.632T>A
c.4712T>A (p.Met1571Lys)
n.2709T>A
c.2080T>A
c.1994T>A
n.1378T>A
c.2054T>A (p.Met685Lys)
c.2213T>A (p.Met738Lys)
c.4343T>A (p.Met1448Lys)
c.4463T>A (p.Met1488Lys)
c.3542T>A (p.Met1181Lys)
c.3362T>A (p.Met1121Lys)
c.3122T>A (p.Met1041Lys)
c.2741T>A (p.Met914Lys)
c.1604T>A (p.Met535Lys)
c.4673T>A (p.Met1558Lys)
c.4574T>A (p.Met1525Lys)
c.4544T>A (p.Met1515Lys)
c.4514T>A (p.Met1505Lys)
c.4385T>A (p.Met1462Lys)
c.4364T>A (p.Met1455Lys)
n.4659T>A
6g.157200937T>CCA366241268ARID1Bc.4553T>C (p.Met1518Thr)
c.4622T>C (p.Met1541Thr)
c.4841T>C (p.Met1614Thr)
c.4592T>C (p.Met1531Thr)
c.4304T>C (p.Met1435Thr)
c.2870T>C (p.Met957Thr)
c.2033T>C (p.Met678Thr)
c.1664T>C (p.Met555Thr)
n.3175T>C
n.632T>C
c.4712T>C (p.Met1571Thr)
n.2709T>C
c.2080T>C
c.1994T>C
n.1378T>C
c.2054T>C (p.Met685Thr)
c.2213T>C (p.Met738Thr)
c.4343T>C (p.Met1448Thr)
c.4463T>C (p.Met1488Thr)
c.3542T>C (p.Met1181Thr)
c.3362T>C (p.Met1121Thr)
c.3122T>C (p.Met1041Thr)
c.2741T>C (p.Met914Thr)
c.1604T>C (p.Met535Thr)
c.4673T>C (p.Met1558Thr)
c.4574T>C (p.Met1525Thr)
c.4544T>C (p.Met1515Thr)
c.4514T>C (p.Met1505Thr)
c.4385T>C (p.Met1462Thr)
c.4364T>C (p.Met1455Thr)
n.4659T>C
6g.157200937T>GCA366241269ARID1Bc.4553T>G (p.Met1518Arg)
c.4622T>G (p.Met1541Arg)
c.4841T>G (p.Met1614Arg)
c.4592T>G (p.Met1531Arg)
c.4304T>G (p.Met1435Arg)
c.2870T>G (p.Met957Arg)
c.2033T>G (p.Met678Arg)
c.1664T>G (p.Met555Arg)
n.3175T>G
n.632T>G
c.4712T>G (p.Met1571Arg)
n.2709T>G
c.2080T>G
c.1994T>G
n.1378T>G
c.2054T>G (p.Met685Arg)
c.2213T>G (p.Met738Arg)
c.4343T>G (p.Met1448Arg)
c.4463T>G (p.Met1488Arg)
c.3542T>G (p.Met1181Arg)
c.3362T>G (p.Met1121Arg)
c.3122T>G (p.Met1041Arg)
c.2741T>G (p.Met914Arg)
c.1604T>G (p.Met535Arg)
c.4673T>G (p.Met1558Arg)
c.4574T>G (p.Met1525Arg)
c.4544T>G (p.Met1515Arg)
c.4514T>G (p.Met1505Arg)
c.4385T>G (p.Met1462Arg)
c.4364T>G (p.Met1455Arg)
n.4659T>G
6g.157200938G>ACA366241272ARID1Bc.4554G>A (p.Met1518Ile)
c.4623G>A (p.Met1541Ile)
c.4842G>A (p.Met1614Ile)
c.4593G>A (p.Met1531Ile)
c.4305G>A (p.Met1435Ile)
c.2871G>A (p.Met957Ile)
c.2034G>A (p.Met678Ile)
c.1665G>A (p.Met555Ile)
n.3176G>A
n.633G>A
c.4713G>A (p.Met1571Ile)
n.2710G>A
c.2081G>A
c.1995G>A
n.1379G>A
c.2055G>A (p.Met685Ile)
c.2214G>A (p.Met738Ile)
c.4344G>A (p.Met1448Ile)
c.4464G>A (p.Met1488Ile)
c.3543G>A (p.Met1181Ile)
c.3363G>A (p.Met1121Ile)
c.3123G>A (p.Met1041Ile)
c.2742G>A (p.Met914Ile)
c.1605G>A (p.Met535Ile)
c.4674G>A (p.Met1558Ile)
c.4575G>A (p.Met1525Ile)
c.4545G>A (p.Met1515Ile)
c.4515G>A (p.Met1505Ile)
c.4386G>A (p.Met1462Ile)
c.4365G>A (p.Met1455Ile)
n.4660G>A
6g.157200938G>CCA366241270ARID1Bc.4554G>C (p.Met1518Ile)
c.4623G>C (p.Met1541Ile)
c.4842G>C (p.Met1614Ile)
c.4593G>C (p.Met1531Ile)
c.4305G>C (p.Met1435Ile)
c.2871G>C (p.Met957Ile)
c.2034G>C (p.Met678Ile)
c.1665G>C (p.Met555Ile)
n.3176G>C
n.633G>C
c.4713G>C (p.Met1571Ile)
n.2710G>C
c.2081G>C
c.1995G>C
n.1379G>C
c.2055G>C (p.Met685Ile)
c.2214G>C (p.Met738Ile)
c.4344G>C (p.Met1448Ile)
c.4464G>C (p.Met1488Ile)
c.3543G>C (p.Met1181Ile)
c.3363G>C (p.Met1121Ile)
c.3123G>C (p.Met1041Ile)
c.2742G>C (p.Met914Ile)
c.1605G>C (p.Met535Ile)
c.4674G>C (p.Met1558Ile)
c.4575G>C (p.Met1525Ile)
c.4545G>C (p.Met1515Ile)
c.4515G>C (p.Met1505Ile)
c.4386G>C (p.Met1462Ile)
c.4365G>C (p.Met1455Ile)
n.4660G>C
gnomAD v4
6g.157200938G>TCA366241271ARID1Bc.4554G>T (p.Met1518Ile)
c.4623G>T (p.Met1541Ile)
c.4842G>T (p.Met1614Ile)
c.4593G>T (p.Met1531Ile)
c.4305G>T (p.Met1435Ile)
c.2871G>T (p.Met957Ile)
c.2034G>T (p.Met678Ile)
c.1665G>T (p.Met555Ile)
n.3176G>T
n.633G>T
c.4713G>T (p.Met1571Ile)
n.2710G>T
c.2081G>T
c.1995G>T
n.1379G>T
c.2055G>T (p.Met685Ile)
c.2214G>T (p.Met738Ile)
c.4344G>T (p.Met1448Ile)
c.4464G>T (p.Met1488Ile)
c.3543G>T (p.Met1181Ile)
c.3363G>T (p.Met1121Ile)
c.3123G>T (p.Met1041Ile)
c.2742G>T (p.Met914Ile)
c.1605G>T (p.Met535Ile)
c.4674G>T (p.Met1558Ile)
c.4575G>T (p.Met1525Ile)
c.4545G>T (p.Met1515Ile)
c.4515G>T (p.Met1505Ile)
c.4386G>T (p.Met1462Ile)
c.4365G>T (p.Met1455Ile)
n.4660G>T
ClinVar dbSNP gnomAD v3 gnomAD v4
6g.157200939G>ACA4067690ARID1Bc.4555G>A (p.Gly1519Ser)
c.4624G>A (p.Gly1542Ser)
c.4843G>A (p.Gly1615Ser)
c.4594G>A (p.Gly1532Ser)
c.4306G>A (p.Gly1436Ser)
c.2872G>A (p.Gly958Ser)
c.2035G>A (p.Gly679Ser)
c.1666G>A (p.Gly556Ser)
n.3177G>A
n.634G>A
c.4714G>A (p.Gly1572Ser)
n.2711G>A
c.2082G>A
c.1996G>A
n.1380G>A
c.2056G>A (p.Gly686Ser)
c.2215G>A (p.Gly739Ser)
c.4345G>A (p.Gly1449Ser)
c.4465G>A (p.Gly1489Ser)
c.3544G>A (p.Gly1182Ser)
c.3364G>A (p.Gly1122Ser)
c.3124G>A (p.Gly1042Ser)
c.2743G>A (p.Gly915Ser)
c.1606G>A (p.Gly536Ser)
c.4675G>A (p.Gly1559Ser)
c.4576G>A (p.Gly1526Ser)
c.4546G>A (p.Gly1516Ser)
c.4516G>A (p.Gly1506Ser)
c.4387G>A (p.Gly1463Ser)
c.4366G>A (p.Gly1456Ser)
n.4661G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.157200939G>CCA366241273ARID1Bc.4555G>C (p.Gly1519Arg)
c.4624G>C (p.Gly1542Arg)
c.4843G>C (p.Gly1615Arg)
c.4594G>C (p.Gly1532Arg)
c.4306G>C (p.Gly1436Arg)
c.2872G>C (p.Gly958Arg)
c.2035G>C (p.Gly679Arg)
c.1666G>C (p.Gly556Arg)
n.3177G>C
n.634G>C
c.4714G>C (p.Gly1572Arg)
n.2711G>C
c.2082G>C
c.1996G>C
n.1380G>C
c.2056G>C (p.Gly686Arg)
c.2215G>C (p.Gly739Arg)
c.4345G>C (p.Gly1449Arg)
c.4465G>C (p.Gly1489Arg)
c.3544G>C (p.Gly1182Arg)
c.3364G>C (p.Gly1122Arg)
c.3124G>C (p.Gly1042Arg)
c.2743G>C (p.Gly915Arg)
c.1606G>C (p.Gly536Arg)
c.4675G>C (p.Gly1559Arg)
c.4576G>C (p.Gly1526Arg)
c.4546G>C (p.Gly1516Arg)
c.4516G>C (p.Gly1506Arg)
c.4387G>C (p.Gly1463Arg)
c.4366G>C (p.Gly1456Arg)
n.4661G>C
dbSNP gnomAD v4
6g.157200939G=CA1675543155ARID1Bc.4555G= (p.Gly1519=)
c.4624G= (p.Gly1542=)
c.4843G= (p.Gly1615=)
c.4594G= (p.Gly1532=)
c.4306G= (p.Gly1436=)
c.2872G= (p.Gly958=)
c.2035G= (p.Gly679=)
c.1666G= (p.Gly556=)
n.3177G=
n.634G=
c.4714G= (p.Gly1572=)
n.2711G=
c.2082G=
c.1996G=
n.1380G=
c.2056G= (p.Gly686=)
c.2215G= (p.Gly739=)
c.4345G= (p.Gly1449=)
c.4465G= (p.Gly1489=)
c.3544G= (p.Gly1182=)
c.3364G= (p.Gly1122=)
c.3124G= (p.Gly1042=)
c.2743G= (p.Gly915=)
c.1606G= (p.Gly536=)
c.4675G= (p.Gly1559=)
c.4576G= (p.Gly1526=)
c.4546G= (p.Gly1516=)
c.4516G= (p.Gly1506=)
c.4387G= (p.Gly1463=)
c.4366G= (p.Gly1456=)
n.4661G=
6g.157200939G>TCA366241274ARID1Bc.4555G>T (p.Gly1519Cys)
c.4624G>T (p.Gly1542Cys)
c.4843G>T (p.Gly1615Cys)
c.4594G>T (p.Gly1532Cys)
c.4306G>T (p.Gly1436Cys)
c.2872G>T (p.Gly958Cys)
c.2035G>T (p.Gly679Cys)
c.1666G>T (p.Gly556Cys)
n.3177G>T
n.634G>T
c.4714G>T (p.Gly1572Cys)
n.2711G>T
c.2082G>T
c.1996G>T
n.1380G>T
c.2056G>T (p.Gly686Cys)
c.2215G>T (p.Gly739Cys)
c.4345G>T (p.Gly1449Cys)
c.4465G>T (p.Gly1489Cys)
c.3544G>T (p.Gly1182Cys)
c.3364G>T (p.Gly1122Cys)
c.3124G>T (p.Gly1042Cys)
c.2743G>T (p.Gly915Cys)
c.1606G>T (p.Gly536Cys)
c.4675G>T (p.Gly1559Cys)
c.4576G>T (p.Gly1526Cys)
c.4546G>T (p.Gly1516Cys)
c.4516G>T (p.Gly1506Cys)
c.4387G>T (p.Gly1463Cys)
c.4366G>T (p.Gly1456Cys)
n.4661G>T
6g.157200940G>ACA366241275ARID1Bc.4556G>A (p.Gly1519Asp)
c.4625G>A (p.Gly1542Asp)
c.4844G>A (p.Gly1615Asp)
c.4595G>A (p.Gly1532Asp)
c.4307G>A (p.Gly1436Asp)
c.2873G>A (p.Gly958Asp)
c.2036G>A (p.Gly679Asp)
c.1667G>A (p.Gly556Asp)
n.3178G>A
n.635G>A
c.4715G>A (p.Gly1572Asp)
n.2712G>A
c.2083G>A
c.1997G>A
n.1381G>A
c.2057G>A (p.Gly686Asp)
c.2216G>A (p.Gly739Asp)
c.4346G>A (p.Gly1449Asp)
c.4466G>A (p.Gly1489Asp)
c.3545G>A (p.Gly1182Asp)
c.3365G>A (p.Gly1122Asp)
c.3125G>A (p.Gly1042Asp)
c.2744G>A (p.Gly915Asp)
c.1607G>A (p.Gly536Asp)
c.4676G>A (p.Gly1559Asp)
c.4577G>A (p.Gly1526Asp)
c.4547G>A (p.Gly1516Asp)
c.4517G>A (p.Gly1506Asp)
c.4388G>A (p.Gly1463Asp)
c.4367G>A (p.Gly1456Asp)
n.4662G>A
6g.157200940G>CCA366241276ARID1Bc.4556G>C (p.Gly1519Ala)
c.4625G>C (p.Gly1542Ala)
c.4844G>C (p.Gly1615Ala)
c.4595G>C (p.Gly1532Ala)
c.4307G>C (p.Gly1436Ala)
c.2873G>C (p.Gly958Ala)
c.2036G>C (p.Gly679Ala)
c.1667G>C (p.Gly556Ala)
n.3178G>C
n.635G>C
c.4715G>C (p.Gly1572Ala)
n.2712G>C
c.2083G>C
c.1997G>C
n.1381G>C
c.2057G>C (p.Gly686Ala)
c.2216G>C (p.Gly739Ala)
c.4346G>C (p.Gly1449Ala)
c.4466G>C (p.Gly1489Ala)
c.3545G>C (p.Gly1182Ala)
c.3365G>C (p.Gly1122Ala)
c.3125G>C (p.Gly1042Ala)
c.2744G>C (p.Gly915Ala)
c.1607G>C (p.Gly536Ala)
c.4676G>C (p.Gly1559Ala)
c.4577G>C (p.Gly1526Ala)
c.4547G>C (p.Gly1516Ala)
c.4517G>C (p.Gly1506Ala)
c.4388G>C (p.Gly1463Ala)
c.4367G>C (p.Gly1456Ala)
n.4662G>C
dbSNP
6g.157200940G>TCA366241277ARID1Bc.4556G>T (p.Gly1519Val)
c.4625G>T (p.Gly1542Val)
c.4844G>T (p.Gly1615Val)
c.4595G>T (p.Gly1532Val)
c.4307G>T (p.Gly1436Val)
c.2873G>T (p.Gly958Val)
c.2036G>T (p.Gly679Val)
c.1667G>T (p.Gly556Val)
n.3178G>T
n.635G>T
c.4715G>T (p.Gly1572Val)
n.2712G>T
c.2083G>T
c.1997G>T
n.1381G>T
c.2057G>T (p.Gly686Val)
c.2216G>T (p.Gly739Val)
c.4346G>T (p.Gly1449Val)
c.4466G>T (p.Gly1489Val)
c.3545G>T (p.Gly1182Val)
c.3365G>T (p.Gly1122Val)
c.3125G>T (p.Gly1042Val)
c.2744G>T (p.Gly915Val)
c.1607G>T (p.Gly536Val)
c.4676G>T (p.Gly1559Val)
c.4577G>T (p.Gly1526Val)
c.4547G>T (p.Gly1516Val)
c.4517G>T (p.Gly1506Val)
c.4388G>T (p.Gly1463Val)
c.4367G>T (p.Gly1456Val)
n.4662G>T
6g.157200941C>ACA452978026ARID1Bc.4557C>A (p.Gly1519=)
c.4626C>A (p.Gly1542=)
c.4845C>A (p.Gly1615=)
c.4596C>A (p.Gly1532=)
c.4308C>A (p.Gly1436=)
c.2874C>A (p.Gly958=)
c.2037C>A (p.Gly679=)
c.1668C>A (p.Gly556=)
n.3179C>A
n.636C>A
c.4716C>A (p.Gly1572=)
n.2713C>A
c.2084C>A
c.1998C>A
n.1382C>A
c.2058C>A (p.Gly686=)
c.2217C>A (p.Gly739=)
c.4347C>A (p.Gly1449=)
c.4467C>A (p.Gly1489=)
c.3546C>A (p.Gly1182=)
c.3366C>A (p.Gly1122=)
c.3126C>A (p.Gly1042=)
c.2745C>A (p.Gly915=)
c.1608C>A (p.Gly536=)
c.4677C>A (p.Gly1559=)
c.4578C>A (p.Gly1526=)
c.4548C>A (p.Gly1516=)
c.4518C>A (p.Gly1506=)
c.4389C>A (p.Gly1463=)
c.4368C>A (p.Gly1456=)
n.4663C>A
dbSNP
6g.157200941C=CA1675543156ARID1Bc.4557C= (p.Gly1519=)
c.4626C= (p.Gly1542=)
c.4845C= (p.Gly1615=)
c.4596C= (p.Gly1532=)
c.4308C= (p.Gly1436=)
c.2874C= (p.Gly958=)
c.2037C= (p.Gly679=)
c.1668C= (p.Gly556=)
n.3179C=
n.636C=
c.4716C= (p.Gly1572=)
n.2713C=
c.2084C=
c.1998C=
n.1382C=
c.2058C= (p.Gly686=)
c.2217C= (p.Gly739=)
c.4347C= (p.Gly1449=)
c.4467C= (p.Gly1489=)
c.3546C= (p.Gly1182=)
c.3366C= (p.Gly1122=)
c.3126C= (p.Gly1042=)
c.2745C= (p.Gly915=)
c.1608C= (p.Gly536=)
c.4677C= (p.Gly1559=)
c.4578C= (p.Gly1526=)
c.4548C= (p.Gly1516=)
c.4518C= (p.Gly1506=)
c.4389C= (p.Gly1463=)
c.4368C= (p.Gly1456=)
n.4663C=
6g.157200941C>GCA452978028ARID1Bc.4557C>G (p.Gly1519=)
c.4626C>G (p.Gly1542=)
c.4845C>G (p.Gly1615=)
c.4596C>G (p.Gly1532=)
c.4308C>G (p.Gly1436=)
c.2874C>G (p.Gly958=)
c.2037C>G (p.Gly679=)
c.1668C>G (p.Gly556=)
n.3179C>G
n.636C>G
c.4716C>G (p.Gly1572=)
n.2713C>G
c.2084C>G
c.1998C>G
n.1382C>G
c.2058C>G (p.Gly686=)
c.2217C>G (p.Gly739=)
c.4347C>G (p.Gly1449=)
c.4467C>G (p.Gly1489=)
c.3546C>G (p.Gly1182=)
c.3366C>G (p.Gly1122=)
c.3126C>G (p.Gly1042=)
c.2745C>G (p.Gly915=)
c.1608C>G (p.Gly536=)
c.4677C>G (p.Gly1559=)
c.4578C>G (p.Gly1526=)
c.4548C>G (p.Gly1516=)
c.4518C>G (p.Gly1506=)
c.4389C>G (p.Gly1463=)
c.4368C>G (p.Gly1456=)
n.4663C>G
dbSNP
6g.157200941C>TCA4067691ARID1Bc.4557C>T (p.Gly1519=)
c.4626C>T (p.Gly1542=)
c.4845C>T (p.Gly1615=)
c.4596C>T (p.Gly1532=)
c.4308C>T (p.Gly1436=)
c.2874C>T (p.Gly958=)
c.2037C>T (p.Gly679=)
c.1668C>T (p.Gly556=)
n.3179C>T
n.636C>T
c.4716C>T (p.Gly1572=)
n.2713C>T
c.2084C>T
c.1998C>T
n.1382C>T
c.2058C>T (p.Gly686=)
c.2217C>T (p.Gly739=)
c.4347C>T (p.Gly1449=)
c.4467C>T (p.Gly1489=)
c.3546C>T (p.Gly1182=)
c.3366C>T (p.Gly1122=)
c.3126C>T (p.Gly1042=)
c.2745C>T (p.Gly915=)
c.1608C>T (p.Gly536=)
c.4677C>T (p.Gly1559=)
c.4578C>T (p.Gly1526=)
c.4548C>T (p.Gly1516=)
c.4518C>T (p.Gly1506=)
c.4389C>T (p.Gly1463=)
c.4368C>T (p.Gly1456=)
n.4663C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.157200942G>ACA4067692ARID1Bc.4558G>A (p.Gly1520Ser)
c.4627G>A (p.Gly1543Ser)
c.4846G>A (p.Gly1616Ser)
c.4597G>A (p.Gly1533Ser)
c.4309G>A (p.Gly1437Ser)
c.2875G>A (p.Gly959Ser)
c.2038G>A (p.Gly680Ser)
c.1669G>A (p.Gly557Ser)
n.3180G>A
n.637G>A
c.4717G>A (p.Gly1573Ser)
n.2714G>A
c.2085G>A
c.1999G>A
n.1383G>A
c.2059G>A (p.Gly687Ser)
c.2218G>A (p.Gly740Ser)
c.4348G>A (p.Gly1450Ser)
c.4468G>A (p.Gly1490Ser)
c.3547G>A (p.Gly1183Ser)
c.3367G>A (p.Gly1123Ser)
c.3127G>A (p.Gly1043Ser)
c.2746G>A (p.Gly916Ser)
c.1609G>A (p.Gly537Ser)
c.4678G>A (p.Gly1560Ser)
c.4579G>A (p.Gly1527Ser)
c.4549G>A (p.Gly1517Ser)
c.4519G>A (p.Gly1507Ser)
c.4390G>A (p.Gly1464Ser)
c.4369G>A (p.Gly1457Ser)
n.4664G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.157200942G>CCA366241278ARID1Bc.4558G>C (p.Gly1520Arg)
c.4627G>C (p.Gly1543Arg)
c.4846G>C (p.Gly1616Arg)
c.4597G>C (p.Gly1533Arg)
c.4309G>C (p.Gly1437Arg)
c.2875G>C (p.Gly959Arg)
c.2038G>C (p.Gly680Arg)
c.1669G>C (p.Gly557Arg)
n.3180G>C
n.637G>C
c.4717G>C (p.Gly1573Arg)
n.2714G>C
c.2085G>C
c.1999G>C
n.1383G>C
c.2059G>C (p.Gly687Arg)
c.2218G>C (p.Gly740Arg)
c.4348G>C (p.Gly1450Arg)
c.4468G>C (p.Gly1490Arg)
c.3547G>C (p.Gly1183Arg)
c.3367G>C (p.Gly1123Arg)
c.3127G>C (p.Gly1043Arg)
c.2746G>C (p.Gly916Arg)
c.1609G>C (p.Gly537Arg)
c.4678G>C (p.Gly1560Arg)
c.4579G>C (p.Gly1527Arg)
c.4549G>C (p.Gly1517Arg)
c.4519G>C (p.Gly1507Arg)
c.4390G>C (p.Gly1464Arg)
c.4369G>C (p.Gly1457Arg)
n.4664G>C
6g.157200942G=CA1675543157ARID1Bc.4558G= (p.Gly1520=)
c.4627G= (p.Gly1543=)
c.4846G= (p.Gly1616=)
c.4597G= (p.Gly1533=)
c.4309G= (p.Gly1437=)
c.2875G= (p.Gly959=)
c.2038G= (p.Gly680=)
c.1669G= (p.Gly557=)
n.3180G=
n.637G=
c.4717G= (p.Gly1573=)
n.2714G=
c.2085G=
c.1999G=
n.1383G=
c.2059G= (p.Gly687=)
c.2218G= (p.Gly740=)
c.4348G= (p.Gly1450=)
c.4468G= (p.Gly1490=)
c.3547G= (p.Gly1183=)
c.3367G= (p.Gly1123=)
c.3127G= (p.Gly1043=)
c.2746G= (p.Gly916=)
c.1609G= (p.Gly537=)
c.4678G= (p.Gly1560=)
c.4579G= (p.Gly1527=)
c.4549G= (p.Gly1517=)
c.4519G= (p.Gly1507=)
c.4390G= (p.Gly1464=)
c.4369G= (p.Gly1457=)
n.4664G=
6g.157200942G>TCA366241279ARID1Bc.4558G>T (p.Gly1520Cys)
c.4627G>T (p.Gly1543Cys)
c.4846G>T (p.Gly1616Cys)
c.4597G>T (p.Gly1533Cys)
c.4309G>T (p.Gly1437Cys)
c.2875G>T (p.Gly959Cys)
c.2038G>T (p.Gly680Cys)
c.1669G>T (p.Gly557Cys)
n.3180G>T
n.637G>T
c.4717G>T (p.Gly1573Cys)
n.2714G>T
c.2085G>T
c.1999G>T
n.1383G>T
c.2059G>T (p.Gly687Cys)
c.2218G>T (p.Gly740Cys)
c.4348G>T (p.Gly1450Cys)
c.4468G>T (p.Gly1490Cys)
c.3547G>T (p.Gly1183Cys)
c.3367G>T (p.Gly1123Cys)
c.3127G>T (p.Gly1043Cys)
c.2746G>T (p.Gly916Cys)
c.1609G>T (p.Gly537Cys)
c.4678G>T (p.Gly1560Cys)
c.4579G>T (p.Gly1527Cys)
c.4549G>T (p.Gly1517Cys)
c.4519G>T (p.Gly1507Cys)
c.4390G>T (p.Gly1464Cys)
c.4369G>T (p.Gly1457Cys)
n.4664G>T
6g.157200943G>ACA366241282ARID1Bc.4559G>A (p.Gly1520Asp)
c.4628G>A (p.Gly1543Asp)
c.4847G>A (p.Gly1616Asp)
c.4598G>A (p.Gly1533Asp)
c.4310G>A (p.Gly1437Asp)
c.2876G>A (p.Gly959Asp)
c.2039G>A (p.Gly680Asp)
c.1670G>A (p.Gly557Asp)
n.3181G>A
n.638G>A
c.4718G>A (p.Gly1573Asp)
n.2715G>A
c.2086G>A
c.2000G>A
n.1384G>A
c.2060G>A (p.Gly687Asp)
c.2219G>A (p.Gly740Asp)
c.4349G>A (p.Gly1450Asp)
c.4469G>A (p.Gly1490Asp)
c.3548G>A (p.Gly1183Asp)
c.3368G>A (p.Gly1123Asp)
c.3128G>A (p.Gly1043Asp)
c.2747G>A (p.Gly916Asp)
c.1610G>A (p.Gly537Asp)
c.4679G>A (p.Gly1560Asp)
c.4580G>A (p.Gly1527Asp)
c.4550G>A (p.Gly1517Asp)
c.4520G>A (p.Gly1507Asp)
c.4391G>A (p.Gly1464Asp)
c.4370G>A (p.Gly1457Asp)
n.4665G>A
dbSNP
6g.157200943G>CCA366241281ARID1Bc.4559G>C (p.Gly1520Ala)
c.4628G>C (p.Gly1543Ala)
c.4847G>C (p.Gly1616Ala)
c.4598G>C (p.Gly1533Ala)
c.4310G>C (p.Gly1437Ala)
c.2876G>C (p.Gly959Ala)
c.2039G>C (p.Gly680Ala)
c.1670G>C (p.Gly557Ala)
n.3181G>C
n.638G>C
c.4718G>C (p.Gly1573Ala)
n.2715G>C
c.2086G>C
c.2000G>C
n.1384G>C
c.2060G>C (p.Gly687Ala)
c.2219G>C (p.Gly740Ala)
c.4349G>C (p.Gly1450Ala)
c.4469G>C (p.Gly1490Ala)
c.3548G>C (p.Gly1183Ala)
c.3368G>C (p.Gly1123Ala)
c.3128G>C (p.Gly1043Ala)
c.2747G>C (p.Gly916Ala)
c.1610G>C (p.Gly537Ala)
c.4679G>C (p.Gly1560Ala)
c.4580G>C (p.Gly1527Ala)
c.4550G>C (p.Gly1517Ala)
c.4520G>C (p.Gly1507Ala)
c.4391G>C (p.Gly1464Ala)
c.4370G>C (p.Gly1457Ala)
n.4665G>C
dbSNP gnomAD v4
6g.157200943G=CA1675543158ARID1Bc.4559G= (p.Gly1520=)
c.4628G= (p.Gly1543=)
c.4847G= (p.Gly1616=)
c.4598G= (p.Gly1533=)
c.4310G= (p.Gly1437=)
c.2876G= (p.Gly959=)
c.2039G= (p.Gly680=)
c.1670G= (p.Gly557=)
n.3181G=
n.638G=
c.4718G= (p.Gly1573=)
n.2715G=
c.2086G=
c.2000G=
n.1384G=
c.2060G= (p.Gly687=)
c.2219G= (p.Gly740=)
c.4349G= (p.Gly1450=)
c.4469G= (p.Gly1490=)
c.3548G= (p.Gly1183=)
c.3368G= (p.Gly1123=)
c.3128G= (p.Gly1043=)
c.2747G= (p.Gly916=)
c.1610G= (p.Gly537=)
c.4679G= (p.Gly1560=)
c.4580G= (p.Gly1527=)
c.4550G= (p.Gly1517=)
c.4520G= (p.Gly1507=)
c.4391G= (p.Gly1464=)
c.4370G= (p.Gly1457=)
n.4665G=
6g.157200943G>TCA366241280ARID1Bc.4559G>T (p.Gly1520Val)
c.4628G>T (p.Gly1543Val)
c.4847G>T (p.Gly1616Val)
c.4598G>T (p.Gly1533Val)
c.4310G>T (p.Gly1437Val)
c.2876G>T (p.Gly959Val)
c.2039G>T (p.Gly680Val)
c.1670G>T (p.Gly557Val)
n.3181G>T
n.638G>T
c.4718G>T (p.Gly1573Val)
n.2715G>T
c.2086G>T
c.2000G>T
n.1384G>T
c.2060G>T (p.Gly687Val)
c.2219G>T (p.Gly740Val)
c.4349G>T (p.Gly1450Val)
c.4469G>T (p.Gly1490Val)
c.3548G>T (p.Gly1183Val)
c.3368G>T (p.Gly1123Val)
c.3128G>T (p.Gly1043Val)
c.2747G>T (p.Gly916Val)
c.1610G>T (p.Gly537Val)
c.4679G>T (p.Gly1560Val)
c.4580G>T (p.Gly1527Val)
c.4550G>T (p.Gly1517Val)
c.4520G>T (p.Gly1507Val)
c.4391G>T (p.Gly1464Val)
c.4370G>T (p.Gly1457Val)
n.4665G>T
6g.157200944C>ACA452978029ARID1Bc.4560C>A (p.Gly1520=)
c.4629C>A (p.Gly1543=)
c.4848C>A (p.Gly1616=)
c.4599C>A (p.Gly1533=)
c.4311C>A (p.Gly1437=)
c.2877C>A (p.Gly959=)
c.2040C>A (p.Gly680=)
c.1671C>A (p.Gly557=)
n.3182C>A
n.639C>A
c.4719C>A (p.Gly1573=)
n.2716C>A
c.2087C>A
c.2001C>A
n.1385C>A
c.2061C>A (p.Gly687=)
c.2220C>A (p.Gly740=)
c.4350C>A (p.Gly1450=)
c.4470C>A (p.Gly1490=)
c.3549C>A (p.Gly1183=)
c.3369C>A (p.Gly1123=)
c.3129C>A (p.Gly1043=)
c.2748C>A (p.Gly916=)
c.1611C>A (p.Gly537=)
c.4680C>A (p.Gly1560=)
c.4581C>A (p.Gly1527=)
c.4551C>A (p.Gly1517=)
c.4521C>A (p.Gly1507=)
c.4392C>A (p.Gly1464=)
c.4371C>A (p.Gly1457=)
n.4666C>A
6g.157200944C=CA1675543159ARID1Bc.4560C= (p.Gly1520=)
c.4629C= (p.Gly1543=)
c.4848C= (p.Gly1616=)
c.4599C= (p.Gly1533=)
c.4311C= (p.Gly1437=)
c.2877C= (p.Gly959=)
c.2040C= (p.Gly680=)
c.1671C= (p.Gly557=)
n.3182C=
n.639C=
c.4719C= (p.Gly1573=)
n.2716C=
c.2087C=
c.2001C=
n.1385C=
c.2061C= (p.Gly687=)
c.2220C= (p.Gly740=)
c.4350C= (p.Gly1450=)
c.4470C= (p.Gly1490=)
c.3549C= (p.Gly1183=)
c.3369C= (p.Gly1123=)
c.3129C= (p.Gly1043=)
c.2748C= (p.Gly916=)
c.1611C= (p.Gly537=)
c.4680C= (p.Gly1560=)
c.4581C= (p.Gly1527=)
c.4551C= (p.Gly1517=)
c.4521C= (p.Gly1507=)
c.4392C= (p.Gly1464=)
c.4371C= (p.Gly1457=)
n.4666C=
6g.157200944C>GCA452978031ARID1Bc.4560C>G (p.Gly1520=)
c.4629C>G (p.Gly1543=)
c.4848C>G (p.Gly1616=)
c.4599C>G (p.Gly1533=)
c.4311C>G (p.Gly1437=)
c.2877C>G (p.Gly959=)
c.2040C>G (p.Gly680=)
c.1671C>G (p.Gly557=)
n.3182C>G
n.639C>G
c.4719C>G (p.Gly1573=)
n.2716C>G
c.2087C>G
c.2001C>G
n.1385C>G
c.2061C>G (p.Gly687=)
c.2220C>G (p.Gly740=)
c.4350C>G (p.Gly1450=)
c.4470C>G (p.Gly1490=)
c.3549C>G (p.Gly1183=)
c.3369C>G (p.Gly1123=)
c.3129C>G (p.Gly1043=)
c.2748C>G (p.Gly916=)
c.1611C>G (p.Gly537=)
c.4680C>G (p.Gly1560=)
c.4581C>G (p.Gly1527=)
c.4551C>G (p.Gly1517=)
c.4521C>G (p.Gly1507=)
c.4392C>G (p.Gly1464=)
c.4371C>G (p.Gly1457=)
n.4666C>G
6g.157200944C>TCA452978033ARID1Bc.4560C>T (p.Gly1520=)
c.4629C>T (p.Gly1543=)
c.4848C>T (p.Gly1616=)
c.4599C>T (p.Gly1533=)
c.4311C>T (p.Gly1437=)
c.2877C>T (p.Gly959=)
c.2040C>T (p.Gly680=)
c.1671C>T (p.Gly557=)
n.3182C>T
n.639C>T
c.4719C>T (p.Gly1573=)
n.2716C>T
c.2087C>T
c.2001C>T
n.1385C>T
c.2061C>T (p.Gly687=)
c.2220C>T (p.Gly740=)
c.4350C>T (p.Gly1450=)
c.4470C>T (p.Gly1490=)
c.3549C>T (p.Gly1183=)
c.3369C>T (p.Gly1123=)
c.3129C>T (p.Gly1043=)
c.2748C>T (p.Gly916=)
c.1611C>T (p.Gly537=)
c.4680C>T (p.Gly1560=)
c.4581C>T (p.Gly1527=)
c.4551C>T (p.Gly1517=)
c.4521C>T (p.Gly1507=)
c.4392C>T (p.Gly1464=)
c.4371C>T (p.Gly1457=)
n.4666C>T
dbSNP gnomAD v2
6g.157200945C>ACA366241283ARID1Bc.4561C>A (p.Pro1521Thr)
c.4630C>A (p.Pro1544Thr)
c.4849C>A (p.Pro1617Thr)
c.4600C>A (p.Pro1534Thr)
c.4312C>A (p.Pro1438Thr)
c.2878C>A (p.Pro960Thr)
c.2041C>A (p.Pro681Thr)
c.1672C>A (p.Pro558Thr)
n.3183C>A
n.640C>A
c.4720C>A (p.Pro1574Thr)
n.2717C>A
c.2088C>A
c.2002C>A
n.1386C>A
c.2062C>A (p.Pro688Thr)
c.2221C>A (p.Pro741Thr)
c.4351C>A (p.Pro1451Thr)
c.4471C>A (p.Pro1491Thr)
c.3550C>A (p.Pro1184Thr)
c.3370C>A (p.Pro1124Thr)
c.3130C>A (p.Pro1044Thr)
c.2749C>A (p.Pro917Thr)
c.1612C>A (p.Pro538Thr)
c.4681C>A (p.Pro1561Thr)
c.4582C>A (p.Pro1528Thr)
c.4552C>A (p.Pro1518Thr)
c.4522C>A (p.Pro1508Thr)
c.4393C>A (p.Pro1465Thr)
c.4372C>A (p.Pro1458Thr)
n.4667C>A
6g.157200945C>GCA366241284ARID1Bc.4561C>G (p.Pro1521Ala)
c.4630C>G (p.Pro1544Ala)
c.4849C>G (p.Pro1617Ala)
c.4600C>G (p.Pro1534Ala)
c.4312C>G (p.Pro1438Ala)
c.2878C>G (p.Pro960Ala)
c.2041C>G (p.Pro681Ala)
c.1672C>G (p.Pro558Ala)
n.3183C>G
n.640C>G
c.4720C>G (p.Pro1574Ala)
n.2717C>G
c.2088C>G
c.2002C>G
n.1386C>G
c.2062C>G (p.Pro688Ala)
c.2221C>G (p.Pro741Ala)
c.4351C>G (p.Pro1451Ala)
c.4471C>G (p.Pro1491Ala)
c.3550C>G (p.Pro1184Ala)
c.3370C>G (p.Pro1124Ala)
c.3130C>G (p.Pro1044Ala)
c.2749C>G (p.Pro917Ala)
c.1612C>G (p.Pro538Ala)
c.4681C>G (p.Pro1561Ala)
c.4582C>G (p.Pro1528Ala)
c.4552C>G (p.Pro1518Ala)
c.4522C>G (p.Pro1508Ala)
c.4393C>G (p.Pro1465Ala)
c.4372C>G (p.Pro1458Ala)
n.4667C>G
6g.157200945C>TCA366241285ARID1Bc.4561C>T (p.Pro1521Ser)
c.4630C>T (p.Pro1544Ser)
c.4849C>T (p.Pro1617Ser)
c.4600C>T (p.Pro1534Ser)
c.4312C>T (p.Pro1438Ser)
c.2878C>T (p.Pro960Ser)
c.2041C>T (p.Pro681Ser)
c.1672C>T (p.Pro558Ser)
n.3183C>T
n.640C>T
c.4720C>T (p.Pro1574Ser)
n.2717C>T
c.2088C>T
c.2002C>T
n.1386C>T
c.2062C>T (p.Pro688Ser)
c.2221C>T (p.Pro741Ser)
c.4351C>T (p.Pro1451Ser)
c.4471C>T (p.Pro1491Ser)
c.3550C>T (p.Pro1184Ser)
c.3370C>T (p.Pro1124Ser)
c.3130C>T (p.Pro1044Ser)
c.2749C>T (p.Pro917Ser)
c.1612C>T (p.Pro538Ser)
c.4681C>T (p.Pro1561Ser)
c.4582C>T (p.Pro1528Ser)
c.4552C>T (p.Pro1518Ser)
c.4522C>T (p.Pro1508Ser)
c.4393C>T (p.Pro1465Ser)
c.4372C>T (p.Pro1458Ser)
n.4667C>T
gnomAD v4
6g.157200946C>ACA366241286ARID1Bc.4562C>A (p.Pro1521Gln)
c.4631C>A (p.Pro1544Gln)
c.4850C>A (p.Pro1617Gln)
c.4601C>A (p.Pro1534Gln)
c.4313C>A (p.Pro1438Gln)
c.2879C>A (p.Pro960Gln)
c.2042C>A (p.Pro681Gln)
c.1673C>A (p.Pro558Gln)
n.3184C>A
n.641C>A
c.4721C>A (p.Pro1574Gln)
n.2718C>A
c.2089C>A
c.2003C>A
n.1387C>A
c.2063C>A (p.Pro688Gln)
c.2222C>A (p.Pro741Gln)
c.4352C>A (p.Pro1451Gln)
c.4472C>A (p.Pro1491Gln)
c.3551C>A (p.Pro1184Gln)
c.3371C>A (p.Pro1124Gln)
c.3131C>A (p.Pro1044Gln)
c.2750C>A (p.Pro917Gln)
c.1613C>A (p.Pro538Gln)
c.4682C>A (p.Pro1561Gln)
c.4583C>A (p.Pro1528Gln)
c.4553C>A (p.Pro1518Gln)
c.4523C>A (p.Pro1508Gln)
c.4394C>A (p.Pro1465Gln)
c.4373C>A (p.Pro1458Gln)
n.4668C>A
6g.157200946C=CA1675543160ARID1Bc.4562C= (p.Pro1521=)
c.4631C= (p.Pro1544=)
c.4850C= (p.Pro1617=)
c.4601C= (p.Pro1534=)
c.4313C= (p.Pro1438=)
c.2879C= (p.Pro960=)
c.2042C= (p.Pro681=)
c.1673C= (p.Pro558=)
n.3184C=
n.641C=
c.4721C= (p.Pro1574=)
n.2718C=
c.2089C=
c.2003C=
n.1387C=
c.2063C= (p.Pro688=)
c.2222C= (p.Pro741=)
c.4352C= (p.Pro1451=)
c.4472C= (p.Pro1491=)
c.3551C= (p.Pro1184=)
c.3371C= (p.Pro1124=)
c.3131C= (p.Pro1044=)
c.2750C= (p.Pro917=)
c.1613C= (p.Pro538=)
c.4682C= (p.Pro1561=)
c.4583C= (p.Pro1528=)
c.4553C= (p.Pro1518=)
c.4523C= (p.Pro1508=)
c.4394C= (p.Pro1465=)
c.4373C= (p.Pro1458=)
n.4668C=
6g.157200946C>GCA366241287ARID1Bc.4562C>G (p.Pro1521Arg)
c.4631C>G (p.Pro1544Arg)
c.4850C>G (p.Pro1617Arg)
c.4601C>G (p.Pro1534Arg)
c.4313C>G (p.Pro1438Arg)
c.2879C>G (p.Pro960Arg)
c.2042C>G (p.Pro681Arg)
c.1673C>G (p.Pro558Arg)
n.3184C>G
n.641C>G
c.4721C>G (p.Pro1574Arg)
n.2718C>G
c.2089C>G
c.2003C>G
n.1387C>G
c.2063C>G (p.Pro688Arg)
c.2222C>G (p.Pro741Arg)
c.4352C>G (p.Pro1451Arg)
c.4472C>G (p.Pro1491Arg)
c.3551C>G (p.Pro1184Arg)
c.3371C>G (p.Pro1124Arg)
c.3131C>G (p.Pro1044Arg)
c.2750C>G (p.Pro917Arg)
c.1613C>G (p.Pro538Arg)
c.4682C>G (p.Pro1561Arg)
c.4583C>G (p.Pro1528Arg)
c.4553C>G (p.Pro1518Arg)
c.4523C>G (p.Pro1508Arg)
c.4394C>G (p.Pro1465Arg)
c.4373C>G (p.Pro1458Arg)
n.4668C>G
6g.157200946C>TCA4067693ARID1Bc.4562C>T (p.Pro1521Leu)
c.4631C>T (p.Pro1544Leu)
c.4850C>T (p.Pro1617Leu)
c.4601C>T (p.Pro1534Leu)
c.4313C>T (p.Pro1438Leu)
c.2879C>T (p.Pro960Leu)
c.2042C>T (p.Pro681Leu)
c.1673C>T (p.Pro558Leu)
n.3184C>T
n.641C>T
c.4721C>T (p.Pro1574Leu)
n.2718C>T
c.2089C>T
c.2003C>T
n.1387C>T
c.2063C>T (p.Pro688Leu)
c.2222C>T (p.Pro741Leu)
c.4352C>T (p.Pro1451Leu)
c.4472C>T (p.Pro1491Leu)
c.3551C>T (p.Pro1184Leu)
c.3371C>T (p.Pro1124Leu)
c.3131C>T (p.Pro1044Leu)
c.2750C>T (p.Pro917Leu)
c.1613C>T (p.Pro538Leu)
c.4682C>T (p.Pro1561Leu)
c.4583C>T (p.Pro1528Leu)
c.4553C>T (p.Pro1518Leu)
c.4523C>T (p.Pro1508Leu)
c.4394C>T (p.Pro1465Leu)
c.4373C>T (p.Pro1458Leu)
n.4668C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.157200947G>ACA4067694ARID1Bc.4563G>A (p.Pro1521=)
c.4632G>A (p.Pro1544=)
c.4851G>A (p.Pro1617=)
c.4602G>A (p.Pro1534=)
c.4314G>A (p.Pro1438=)
c.2880G>A (p.Pro960=)
c.2043G>A (p.Pro681=)
c.1674G>A (p.Pro558=)
n.3185G>A
n.642G>A
c.4722G>A (p.Pro1574=)
n.2719G>A
c.2090G>A
c.2004G>A
n.1388G>A
c.2064G>A (p.Pro688=)
c.2223G>A (p.Pro741=)
c.4353G>A (p.Pro1451=)
c.4473G>A (p.Pro1491=)
c.3552G>A (p.Pro1184=)
c.3372G>A (p.Pro1124=)
c.3132G>A (p.Pro1044=)
c.2751G>A (p.Pro917=)
c.1614G>A (p.Pro538=)
c.4683G>A (p.Pro1561=)
c.4584G>A (p.Pro1528=)
c.4554G>A (p.Pro1518=)
c.4524G>A (p.Pro1508=)
c.4395G>A (p.Pro1465=)
c.4374G>A (p.Pro1458=)
n.4669G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.157200947G>CCA452978037ARID1Bc.4563G>C (p.Pro1521=)
c.4632G>C (p.Pro1544=)
c.4851G>C (p.Pro1617=)
c.4602G>C (p.Pro1534=)
c.4314G>C (p.Pro1438=)
c.2880G>C (p.Pro960=)
c.2043G>C (p.Pro681=)
c.1674G>C (p.Pro558=)
n.3185G>C
n.642G>C
c.4722G>C (p.Pro1574=)
n.2719G>C
c.2090G>C
c.2004G>C
n.1388G>C
c.2064G>C (p.Pro688=)
c.2223G>C (p.Pro741=)
c.4353G>C (p.Pro1451=)
c.4473G>C (p.Pro1491=)
c.3552G>C (p.Pro1184=)
c.3372G>C (p.Pro1124=)
c.3132G>C (p.Pro1044=)
c.2751G>C (p.Pro917=)
c.1614G>C (p.Pro538=)
c.4683G>C (p.Pro1561=)
c.4584G>C (p.Pro1528=)
c.4554G>C (p.Pro1518=)
c.4524G>C (p.Pro1508=)
c.4395G>C (p.Pro1465=)
c.4374G>C (p.Pro1458=)
n.4669G>C
gnomAD v4
6g.157200947G=CA1675543161ARID1Bc.4563G= (p.Pro1521=)
c.4632G= (p.Pro1544=)
c.4851G= (p.Pro1617=)
c.4602G= (p.Pro1534=)
c.4314G= (p.Pro1438=)
c.2880G= (p.Pro960=)
c.2043G= (p.Pro681=)
c.1674G= (p.Pro558=)
n.3185G=
n.642G=
c.4722G= (p.Pro1574=)
n.2719G=
c.2090G=
c.2004G=
n.1388G=
c.2064G= (p.Pro688=)
c.2223G= (p.Pro741=)
c.4353G= (p.Pro1451=)
c.4473G= (p.Pro1491=)
c.3552G= (p.Pro1184=)
c.3372G= (p.Pro1124=)
c.3132G= (p.Pro1044=)
c.2751G= (p.Pro917=)
c.1614G= (p.Pro538=)
c.4683G= (p.Pro1561=)
c.4584G= (p.Pro1528=)
c.4554G= (p.Pro1518=)
c.4524G= (p.Pro1508=)
c.4395G= (p.Pro1465=)
c.4374G= (p.Pro1458=)
n.4669G=
6g.157200947G>TCA452978039ARID1Bc.4563G>T (p.Pro1521=)
c.4632G>T (p.Pro1544=)
c.4851G>T (p.Pro1617=)
c.4602G>T (p.Pro1534=)
c.4314G>T (p.Pro1438=)
c.2880G>T (p.Pro960=)
c.2043G>T (p.Pro681=)
c.1674G>T (p.Pro558=)
n.3185G>T
n.642G>T
c.4722G>T (p.Pro1574=)
n.2719G>T
c.2090G>T
c.2004G>T
n.1388G>T
c.2064G>T (p.Pro688=)
c.2223G>T (p.Pro741=)
c.4353G>T (p.Pro1451=)
c.4473G>T (p.Pro1491=)
c.3552G>T (p.Pro1184=)
c.3372G>T (p.Pro1124=)
c.3132G>T (p.Pro1044=)
c.2751G>T (p.Pro917=)
c.1614G>T (p.Pro538=)
c.4683G>T (p.Pro1561=)
c.4584G>T (p.Pro1528=)
c.4554G>T (p.Pro1518=)
c.4524G>T (p.Pro1508=)
c.4395G>T (p.Pro1465=)
c.4374G>T (p.Pro1458=)
n.4669G>T
6g.157200948C>ACA4067695ARID1Bc.4564C>A (p.Leu1522Met)
c.4633C>A (p.Leu1545Met)
c.4852C>A (p.Leu1618Met)
c.4603C>A (p.Leu1535Met)
c.4315C>A (p.Leu1439Met)
c.2881C>A (p.Leu961Met)
c.2044C>A (p.Leu682Met)
c.1675C>A (p.Leu559Met)
n.3186C>A
n.643C>A
c.4723C>A (p.Leu1575Met)
n.2720C>A
c.2091C>A
c.2005C>A
n.1389C>A
c.2065C>A (p.Leu689Met)
c.2224C>A (p.Leu742Met)
c.4354C>A (p.Leu1452Met)
c.4474C>A (p.Leu1492Met)
c.3553C>A (p.Leu1185Met)
c.3373C>A (p.Leu1125Met)
c.3133C>A (p.Leu1045Met)
c.2752C>A (p.Leu918Met)
c.1615C>A (p.Leu539Met)
c.4684C>A (p.Leu1562Met)
c.4585C>A (p.Leu1529Met)
c.4555C>A (p.Leu1519Met)
c.4525C>A (p.Leu1509Met)
c.4396C>A (p.Leu1466Met)
c.4375C>A (p.Leu1459Met)
n.4670C>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.157200948C=CA1675543162ARID1Bc.4564C= (p.Leu1522=)
c.4633C= (p.Leu1545=)
c.4852C= (p.Leu1618=)
c.4603C= (p.Leu1535=)
c.4315C= (p.Leu1439=)
c.2881C= (p.Leu961=)
c.2044C= (p.Leu682=)
c.1675C= (p.Leu559=)
n.3186C=
n.643C=
c.4723C= (p.Leu1575=)
n.2720C=
c.2091C=
c.2005C=
n.1389C=
c.2065C= (p.Leu689=)
c.2224C= (p.Leu742=)
c.4354C= (p.Leu1452=)
c.4474C= (p.Leu1492=)
c.3553C= (p.Leu1185=)
c.3373C= (p.Leu1125=)
c.3133C= (p.Leu1045=)
c.2752C= (p.Leu918=)
c.1615C= (p.Leu539=)
c.4684C= (p.Leu1562=)
c.4585C= (p.Leu1529=)
c.4555C= (p.Leu1519=)
c.4525C= (p.Leu1509=)
c.4396C= (p.Leu1466=)
c.4375C= (p.Leu1459=)
n.4670C=
6g.157200948C>GCA366241288ARID1Bc.4564C>G (p.Leu1522Val)
c.4633C>G (p.Leu1545Val)
c.4852C>G (p.Leu1618Val)
c.4603C>G (p.Leu1535Val)
c.4315C>G (p.Leu1439Val)
c.2881C>G (p.Leu961Val)
c.2044C>G (p.Leu682Val)
c.1675C>G (p.Leu559Val)
n.3186C>G
n.643C>G
c.4723C>G (p.Leu1575Val)
n.2720C>G
c.2091C>G
c.2005C>G
n.1389C>G
c.2065C>G (p.Leu689Val)
c.2224C>G (p.Leu742Val)
c.4354C>G (p.Leu1452Val)
c.4474C>G (p.Leu1492Val)
c.3553C>G (p.Leu1185Val)
c.3373C>G (p.Leu1125Val)
c.3133C>G (p.Leu1045Val)
c.2752C>G (p.Leu918Val)
c.1615C>G (p.Leu539Val)
c.4684C>G (p.Leu1562Val)
c.4585C>G (p.Leu1529Val)
c.4555C>G (p.Leu1519Val)
c.4525C>G (p.Leu1509Val)
c.4396C>G (p.Leu1466Val)
c.4375C>G (p.Leu1459Val)
n.4670C>G
6g.157200948C>TCA452978040ARID1Bc.4564C>T (p.Leu1522=)
c.4633C>T (p.Leu1545=)
c.4852C>T (p.Leu1618=)
c.4603C>T (p.Leu1535=)
c.4315C>T (p.Leu1439=)
c.2881C>T (p.Leu961=)
c.2044C>T (p.Leu682=)
c.1675C>T (p.Leu559=)
n.3186C>T
n.643C>T
c.4723C>T (p.Leu1575=)
n.2720C>T
c.2091C>T
c.2005C>T
n.1389C>T
c.2065C>T (p.Leu689=)
c.2224C>T (p.Leu742=)
c.4354C>T (p.Leu1452=)
c.4474C>T (p.Leu1492=)
c.3553C>T (p.Leu1185=)
c.3373C>T (p.Leu1125=)
c.3133C>T (p.Leu1045=)
c.2752C>T (p.Leu918=)
c.1615C>T (p.Leu539=)
c.4684C>T (p.Leu1562=)
c.4585C>T (p.Leu1529=)
c.4555C>T (p.Leu1519=)
c.4525C>T (p.Leu1509=)
c.4396C>T (p.Leu1466=)
c.4375C>T (p.Leu1459=)
n.4670C>T
dbSNP gnomAD v4
6g.157200949T>ACA366241289ARID1Bc.4565T>A (p.Leu1522Gln)
c.4634T>A (p.Leu1545Gln)
c.4853T>A (p.Leu1618Gln)
c.4604T>A (p.Leu1535Gln)
c.4316T>A (p.Leu1439Gln)
c.2882T>A (p.Leu961Gln)
c.2045T>A (p.Leu682Gln)
c.1676T>A (p.Leu559Gln)
n.3187T>A
n.644T>A
c.4724T>A (p.Leu1575Gln)
n.2721T>A
c.2092T>A
c.2006T>A
n.1390T>A
c.2066T>A (p.Leu689Gln)
c.2225T>A (p.Leu742Gln)
c.4355T>A (p.Leu1452Gln)
c.4475T>A (p.Leu1492Gln)
c.3554T>A (p.Leu1185Gln)
c.3374T>A (p.Leu1125Gln)
c.3134T>A (p.Leu1045Gln)
c.2753T>A (p.Leu918Gln)
c.1616T>A (p.Leu539Gln)
c.4685T>A (p.Leu1562Gln)
c.4586T>A (p.Leu1529Gln)
c.4556T>A (p.Leu1519Gln)
c.4526T>A (p.Leu1509Gln)
c.4397T>A (p.Leu1466Gln)
c.4376T>A (p.Leu1459Gln)
n.4671T>A
6g.157200949T>CCA366241290ARID1Bc.4565T>C (p.Leu1522Pro)
c.4634T>C (p.Leu1545Pro)
c.4853T>C (p.Leu1618Pro)
c.4604T>C (p.Leu1535Pro)
c.4316T>C (p.Leu1439Pro)
c.2882T>C (p.Leu961Pro)
c.2045T>C (p.Leu682Pro)
c.1676T>C (p.Leu559Pro)
n.3187T>C
n.644T>C
c.4724T>C (p.Leu1575Pro)
n.2721T>C
c.2092T>C
c.2006T>C
n.1390T>C
c.2066T>C (p.Leu689Pro)
c.2225T>C (p.Leu742Pro)
c.4355T>C (p.Leu1452Pro)
c.4475T>C (p.Leu1492Pro)
c.3554T>C (p.Leu1185Pro)
c.3374T>C (p.Leu1125Pro)
c.3134T>C (p.Leu1045Pro)
c.2753T>C (p.Leu918Pro)
c.1616T>C (p.Leu539Pro)
c.4685T>C (p.Leu1562Pro)
c.4586T>C (p.Leu1529Pro)
c.4556T>C (p.Leu1519Pro)
c.4526T>C (p.Leu1509Pro)
c.4397T>C (p.Leu1466Pro)
c.4376T>C (p.Leu1459Pro)
n.4671T>C
6g.157200949T>GCA366241291ARID1Bc.4565T>G (p.Leu1522Arg)
c.4634T>G (p.Leu1545Arg)
c.4853T>G (p.Leu1618Arg)
c.4604T>G (p.Leu1535Arg)
c.4316T>G (p.Leu1439Arg)
c.2882T>G (p.Leu961Arg)
c.2045T>G (p.Leu682Arg)
c.1676T>G (p.Leu559Arg)
n.3187T>G
n.644T>G
c.4724T>G (p.Leu1575Arg)
n.2721T>G
c.2092T>G
c.2006T>G
n.1390T>G
c.2066T>G (p.Leu689Arg)
c.2225T>G (p.Leu742Arg)
c.4355T>G (p.Leu1452Arg)
c.4475T>G (p.Leu1492Arg)
c.3554T>G (p.Leu1185Arg)
c.3374T>G (p.Leu1125Arg)
c.3134T>G (p.Leu1045Arg)
c.2753T>G (p.Leu918Arg)
c.1616T>G (p.Leu539Arg)
c.4685T>G (p.Leu1562Arg)
c.4586T>G (p.Leu1529Arg)
c.4556T>G (p.Leu1519Arg)
c.4526T>G (p.Leu1509Arg)
c.4397T>G (p.Leu1466Arg)
c.4376T>G (p.Leu1459Arg)
n.4671T>G
6g.157200950G>ACA452978043ARID1Bc.4566G>A (p.Leu1522=)
c.4635G>A (p.Leu1545=)
c.4854G>A (p.Leu1618=)
c.4605G>A (p.Leu1535=)
c.4317G>A (p.Leu1439=)
c.2883G>A (p.Leu961=)
c.2046G>A (p.Leu682=)
c.1677G>A (p.Leu559=)
n.3188G>A
n.645G>A
c.4725G>A (p.Leu1575=)
n.2722G>A
c.2093G>A
c.2007G>A
n.1391G>A
c.2067G>A (p.Leu689=)
c.2226G>A (p.Leu742=)
c.4356G>A (p.Leu1452=)
c.4476G>A (p.Leu1492=)
c.3555G>A (p.Leu1185=)
c.3375G>A (p.Leu1125=)
c.3135G>A (p.Leu1045=)
c.2754G>A (p.Leu918=)
c.1617G>A (p.Leu539=)
c.4686G>A (p.Leu1562=)
c.4587G>A (p.Leu1529=)
c.4557G>A (p.Leu1519=)
c.4527G>A (p.Leu1509=)
c.4398G>A (p.Leu1466=)
c.4377G>A (p.Leu1459=)
n.4672G>A
dbSNP gnomAD v2 gnomAD v4
6g.157200950G>CCA452978045ARID1Bc.4566G>C (p.Leu1522=)
c.4635G>C (p.Leu1545=)
c.4854G>C (p.Leu1618=)
c.4605G>C (p.Leu1535=)
c.4317G>C (p.Leu1439=)
c.2883G>C (p.Leu961=)
c.2046G>C (p.Leu682=)
c.1677G>C (p.Leu559=)
n.3188G>C
n.645G>C
c.4725G>C (p.Leu1575=)
n.2722G>C
c.2093G>C
c.2007G>C
n.1391G>C
c.2067G>C (p.Leu689=)
c.2226G>C (p.Leu742=)
c.4356G>C (p.Leu1452=)
c.4476G>C (p.Leu1492=)
c.3555G>C (p.Leu1185=)
c.3375G>C (p.Leu1125=)
c.3135G>C (p.Leu1045=)
c.2754G>C (p.Leu918=)
c.1617G>C (p.Leu539=)
c.4686G>C (p.Leu1562=)
c.4587G>C (p.Leu1529=)
c.4557G>C (p.Leu1519=)
c.4527G>C (p.Leu1509=)
c.4398G>C (p.Leu1466=)
c.4377G>C (p.Leu1459=)
n.4672G>C
6g.157200950G=CA1675543163ARID1Bc.4566G= (p.Leu1522=)
c.4635G= (p.Leu1545=)
c.4854G= (p.Leu1618=)
c.4605G= (p.Leu1535=)
c.4317G= (p.Leu1439=)
c.2883G= (p.Leu961=)
c.2046G= (p.Leu682=)
c.1677G= (p.Leu559=)
n.3188G=
n.645G=
c.4725G= (p.Leu1575=)
n.2722G=
c.2093G=
c.2007G=
n.1391G=
c.2067G= (p.Leu689=)
c.2226G= (p.Leu742=)
c.4356G= (p.Leu1452=)
c.4476G= (p.Leu1492=)
c.3555G= (p.Leu1185=)
c.3375G= (p.Leu1125=)
c.3135G= (p.Leu1045=)
c.2754G= (p.Leu918=)
c.1617G= (p.Leu539=)
c.4686G= (p.Leu1562=)
c.4587G= (p.Leu1529=)
c.4557G= (p.Leu1519=)
c.4527G= (p.Leu1509=)
c.4398G= (p.Leu1466=)
c.4377G= (p.Leu1459=)
n.4672G=
6g.157200950G>TCA452978046ARID1Bc.4566G>T (p.Leu1522=)
c.4635G>T (p.Leu1545=)
c.4854G>T (p.Leu1618=)
c.4605G>T (p.Leu1535=)
c.4317G>T (p.Leu1439=)
c.2883G>T (p.Leu961=)
c.2046G>T (p.Leu682=)
c.1677G>T (p.Leu559=)
n.3188G>T
n.645G>T
c.4725G>T (p.Leu1575=)
n.2722G>T
c.2093G>T
c.2007G>T
n.1391G>T
c.2067G>T (p.Leu689=)
c.2226G>T (p.Leu742=)
c.4356G>T (p.Leu1452=)
c.4476G>T (p.Leu1492=)
c.3555G>T (p.Leu1185=)
c.3375G>T (p.Leu1125=)
c.3135G>T (p.Leu1045=)
c.2754G>T (p.Leu918=)
c.1617G>T (p.Leu539=)
c.4686G>T (p.Leu1562=)
c.4587G>T (p.Leu1529=)
c.4557G>T (p.Leu1519=)
c.4527G>T (p.Leu1509=)
c.4398G>T (p.Leu1466=)
c.4377G>T (p.Leu1459=)
n.4672G>T
dbSNP
6g.157200951C>ACA366241292ARID1Bc.4567C>A (p.Gln1523Lys)
c.4636C>A (p.Gln1546Lys)
c.4855C>A (p.Gln1619Lys)
c.4606C>A (p.Gln1536Lys)
c.4318C>A (p.Gln1440Lys)
c.2884C>A (p.Gln962Lys)
c.2047C>A (p.Gln683Lys)
c.1678C>A (p.Gln560Lys)
n.3189C>A
n.646C>A
c.4726C>A (p.Gln1576Lys)
n.2723C>A
c.2094C>A
c.2008C>A
n.1392C>A
c.2068C>A (p.Gln690Lys)
c.2227C>A (p.Gln743Lys)
c.4357C>A (p.Gln1453Lys)
c.4477C>A (p.Gln1493Lys)
c.3556C>A (p.Gln1186Lys)
c.3376C>A (p.Gln1126Lys)
c.3136C>A (p.Gln1046Lys)
c.2755C>A (p.Gln919Lys)
c.1618C>A (p.Gln540Lys)
c.4687C>A (p.Gln1563Lys)
c.4588C>A (p.Gln1530Lys)
c.4558C>A (p.Gln1520Lys)
c.4528C>A (p.Gln1510Lys)
c.4399C>A (p.Gln1467Lys)
c.4378C>A (p.Gln1460Lys)
n.4673C>A
6g.157200951C=CA1675543164ARID1Bc.4567C= (p.Gln1523=)
c.4636C= (p.Gln1546=)
c.4855C= (p.Gln1619=)
c.4606C= (p.Gln1536=)
c.4318C= (p.Gln1440=)
c.2884C= (p.Gln962=)
c.2047C= (p.Gln683=)
c.1678C= (p.Gln560=)
n.3189C=
n.646C=
c.4726C= (p.Gln1576=)
n.2723C=
c.2094C=
c.2008C=
n.1392C=
c.2068C= (p.Gln690=)
c.2227C= (p.Gln743=)
c.4357C= (p.Gln1453=)
c.4477C= (p.Gln1493=)
c.3556C= (p.Gln1186=)
c.3376C= (p.Gln1126=)
c.3136C= (p.Gln1046=)
c.2755C= (p.Gln919=)
c.1618C= (p.Gln540=)
c.4687C= (p.Gln1563=)
c.4588C= (p.Gln1530=)
c.4558C= (p.Gln1520=)
c.4528C= (p.Gln1510=)
c.4399C= (p.Gln1467=)
c.4378C= (p.Gln1460=)
n.4673C=
6g.157200951C>GCA366241293ARID1Bc.4567C>G (p.Gln1523Glu)
c.4636C>G (p.Gln1546Glu)
c.4855C>G (p.Gln1619Glu)
c.4606C>G (p.Gln1536Glu)
c.4318C>G (p.Gln1440Glu)
c.2884C>G (p.Gln962Glu)
c.2047C>G (p.Gln683Glu)
c.1678C>G (p.Gln560Glu)
n.3189C>G
n.646C>G
c.4726C>G (p.Gln1576Glu)
n.2723C>G
c.2094C>G
c.2008C>G
n.1392C>G
c.2068C>G (p.Gln690Glu)
c.2227C>G (p.Gln743Glu)
c.4357C>G (p.Gln1453Glu)
c.4477C>G (p.Gln1493Glu)
c.3556C>G (p.Gln1186Glu)
c.3376C>G (p.Gln1126Glu)
c.3136C>G (p.Gln1046Glu)
c.2755C>G (p.Gln919Glu)
c.1618C>G (p.Gln540Glu)
c.4687C>G (p.Gln1563Glu)
c.4588C>G (p.Gln1530Glu)
c.4558C>G (p.Gln1520Glu)
c.4528C>G (p.Gln1510Glu)
c.4399C>G (p.Gln1467Glu)
c.4378C>G (p.Gln1460Glu)
n.4673C>G
6g.157200951C>TCA366241294ARID1Bc.4567C>T (p.Gln1523Ter)
c.4636C>T (p.Gln1546Ter)
c.4855C>T (p.Gln1619Ter)
c.4606C>T (p.Gln1536Ter)
c.4318C>T (p.Gln1440Ter)
c.2884C>T (p.Gln962Ter)
c.2047C>T (p.Gln683Ter)
c.1678C>T (p.Gln560Ter)
n.3189C>T
n.646C>T
c.4726C>T (p.Gln1576Ter)
n.2723C>T
c.2094C>T
c.2008C>T
n.1392C>T
c.2068C>T (p.Gln690Ter)
c.2227C>T (p.Gln743Ter)
c.4357C>T (p.Gln1453Ter)
c.4477C>T (p.Gln1493Ter)
c.3556C>T (p.Gln1186Ter)
c.3376C>T (p.Gln1126Ter)
c.3136C>T (p.Gln1046Ter)
c.2755C>T (p.Gln919Ter)
c.1618C>T (p.Gln540Ter)
c.4687C>T (p.Gln1563Ter)
c.4588C>T (p.Gln1530Ter)
c.4558C>T (p.Gln1520Ter)
c.4528C>T (p.Gln1510Ter)
c.4399C>T (p.Gln1467Ter)
c.4378C>T (p.Gln1460Ter)
n.4673C>T
dbSNP COSMIC COSMIC
6g.157200952A>CCA366241295ARID1Bc.4568A>C (p.Gln1523Pro)
c.4637A>C (p.Gln1546Pro)
c.4856A>C (p.Gln1619Pro)
c.4607A>C (p.Gln1536Pro)
c.4319A>C (p.Gln1440Pro)
c.2885A>C (p.Gln962Pro)
c.2048A>C (p.Gln683Pro)
c.1679A>C (p.Gln560Pro)
n.3190A>C
n.647A>C
c.4727A>C (p.Gln1576Pro)
n.2724A>C
c.2095A>C
c.2009A>C
n.1393A>C
c.2069A>C (p.Gln690Pro)
c.2228A>C (p.Gln743Pro)
c.4358A>C (p.Gln1453Pro)
c.4478A>C (p.Gln1493Pro)
c.3557A>C (p.Gln1186Pro)
c.3377A>C (p.Gln1126Pro)
c.3137A>C (p.Gln1046Pro)
c.2756A>C (p.Gln919Pro)
c.1619A>C (p.Gln540Pro)
c.4688A>C (p.Gln1563Pro)
c.4589A>C (p.Gln1530Pro)
c.4559A>C (p.Gln1520Pro)
c.4529A>C (p.Gln1510Pro)
c.4400A>C (p.Gln1467Pro)
c.4379A>C (p.Gln1460Pro)
n.4674A>C
6g.157200952A>GCA366241297ARID1Bc.4568A>G (p.Gln1523Arg)
c.4637A>G (p.Gln1546Arg)
c.4856A>G (p.Gln1619Arg)
c.4607A>G (p.Gln1536Arg)
c.4319A>G (p.Gln1440Arg)
c.2885A>G (p.Gln962Arg)
c.2048A>G (p.Gln683Arg)
c.1679A>G (p.Gln560Arg)
n.3190A>G
n.647A>G
c.4727A>G (p.Gln1576Arg)
n.2724A>G
c.2095A>G
c.2009A>G
n.1393A>G
c.2069A>G (p.Gln690Arg)
c.2228A>G (p.Gln743Arg)
c.4358A>G (p.Gln1453Arg)
c.4478A>G (p.Gln1493Arg)
c.3557A>G (p.Gln1186Arg)
c.3377A>G (p.Gln1126Arg)
c.3137A>G (p.Gln1046Arg)
c.2756A>G (p.Gln919Arg)
c.1619A>G (p.Gln540Arg)
c.4688A>G (p.Gln1563Arg)
c.4589A>G (p.Gln1530Arg)
c.4559A>G (p.Gln1520Arg)
c.4529A>G (p.Gln1510Arg)
c.4400A>G (p.Gln1467Arg)
c.4379A>G (p.Gln1460Arg)
n.4674A>G
6g.157200952A>TCA366241296ARID1Bc.4568A>T (p.Gln1523Leu)
c.4637A>T (p.Gln1546Leu)
c.4856A>T (p.Gln1619Leu)
c.4607A>T (p.Gln1536Leu)
c.4319A>T (p.Gln1440Leu)
c.2885A>T (p.Gln962Leu)
c.2048A>T (p.Gln683Leu)
c.1679A>T (p.Gln560Leu)
n.3190A>T
n.647A>T
c.4727A>T (p.Gln1576Leu)
n.2724A>T
c.2095A>T
c.2009A>T
n.1393A>T
c.2069A>T (p.Gln690Leu)
c.2228A>T (p.Gln743Leu)
c.4358A>T (p.Gln1453Leu)
c.4478A>T (p.Gln1493Leu)
c.3557A>T (p.Gln1186Leu)
c.3377A>T (p.Gln1126Leu)
c.3137A>T (p.Gln1046Leu)
c.2756A>T (p.Gln919Leu)
c.1619A>T (p.Gln540Leu)
c.4688A>T (p.Gln1563Leu)
c.4589A>T (p.Gln1530Leu)
c.4559A>T (p.Gln1520Leu)
c.4529A>T (p.Gln1510Leu)
c.4400A>T (p.Gln1467Leu)
c.4379A>T (p.Gln1460Leu)
n.4674A>T
6g.157200953G>ACA452978049ARID1Bc.4569G>A (p.Gln1523=)
c.4638G>A (p.Gln1546=)
c.4857G>A (p.Gln1619=)
c.4608G>A (p.Gln1536=)
c.4320G>A (p.Gln1440=)
c.2886G>A (p.Gln962=)
c.2049G>A (p.Gln683=)
c.1680G>A (p.Gln560=)
n.3191G>A
n.648G>A
c.4728G>A (p.Gln1576=)
n.2725G>A
c.2096G>A
c.2010G>A
n.1394G>A
c.2070G>A (p.Gln690=)
c.2229G>A (p.Gln743=)
c.4359G>A (p.Gln1453=)
c.4479G>A (p.Gln1493=)
c.3558G>A (p.Gln1186=)
c.3378G>A (p.Gln1126=)
c.3138G>A (p.Gln1046=)
c.2757G>A (p.Gln919=)
c.1620G>A (p.Gln540=)
c.4689G>A (p.Gln1563=)
c.4590G>A (p.Gln1530=)
c.4560G>A (p.Gln1520=)
c.4530G>A (p.Gln1510=)
c.4401G>A (p.Gln1467=)
c.4380G>A (p.Gln1460=)
n.4675G>A
dbSNP gnomAD v2 gnomAD v4
6g.157200953G>CCA366241298ARID1Bc.4569G>C (p.Gln1523His)
c.4638G>C (p.Gln1546His)
c.4857G>C (p.Gln1619His)
c.4608G>C (p.Gln1536His)
c.4320G>C (p.Gln1440His)
c.2886G>C (p.Gln962His)
c.2049G>C (p.Gln683His)
c.1680G>C (p.Gln560His)
n.3191G>C
n.648G>C
c.4728G>C (p.Gln1576His)
n.2725G>C
c.2096G>C
c.2010G>C
n.1394G>C
c.2070G>C (p.Gln690His)
c.2229G>C (p.Gln743His)
c.4359G>C (p.Gln1453His)
c.4479G>C (p.Gln1493His)
c.3558G>C (p.Gln1186His)
c.3378G>C (p.Gln1126His)
c.3138G>C (p.Gln1046His)
c.2757G>C (p.Gln919His)
c.1620G>C (p.Gln540His)
c.4689G>C (p.Gln1563His)
c.4590G>C (p.Gln1530His)
c.4560G>C (p.Gln1520His)
c.4530G>C (p.Gln1510His)
c.4401G>C (p.Gln1467His)
c.4380G>C (p.Gln1460His)
n.4675G>C
dbSNP
6g.157200953G=CA1675543165ARID1Bc.4569G= (p.Gln1523=)
c.4638G= (p.Gln1546=)
c.4857G= (p.Gln1619=)
c.4608G= (p.Gln1536=)
c.4320G= (p.Gln1440=)
c.2886G= (p.Gln962=)
c.2049G= (p.Gln683=)
c.1680G= (p.Gln560=)
n.3191G=
n.648G=
c.4728G= (p.Gln1576=)
n.2725G=
c.2096G=
c.2010G=
n.1394G=
c.2070G= (p.Gln690=)
c.2229G= (p.Gln743=)
c.4359G= (p.Gln1453=)
c.4479G= (p.Gln1493=)
c.3558G= (p.Gln1186=)
c.3378G= (p.Gln1126=)
c.3138G= (p.Gln1046=)
c.2757G= (p.Gln919=)
c.1620G= (p.Gln540=)
c.4689G= (p.Gln1563=)
c.4590G= (p.Gln1530=)
c.4560G= (p.Gln1520=)
c.4530G= (p.Gln1510=)
c.4401G= (p.Gln1467=)
c.4380G= (p.Gln1460=)
n.4675G=
6g.157200953G>TCA366241299ARID1Bc.4569G>T (p.Gln1523His)
c.4638G>T (p.Gln1546His)
c.4857G>T (p.Gln1619His)
c.4608G>T (p.Gln1536His)
c.4320G>T (p.Gln1440His)
c.2886G>T (p.Gln962His)
c.2049G>T (p.Gln683His)
c.1680G>T (p.Gln560His)
n.3191G>T
n.648G>T
c.4728G>T (p.Gln1576His)
n.2725G>T
c.2096G>T
c.2010G>T
n.1394G>T
c.2070G>T (p.Gln690His)
c.2229G>T (p.Gln743His)
c.4359G>T (p.Gln1453His)
c.4479G>T (p.Gln1493His)
c.3558G>T (p.Gln1186His)
c.3378G>T (p.Gln1126His)
c.3138G>T (p.Gln1046His)
c.2757G>T (p.Gln919His)
c.1620G>T (p.Gln540His)
c.4689G>T (p.Gln1563His)
c.4590G>T (p.Gln1530His)
c.4560G>T (p.Gln1520His)
c.4530G>T (p.Gln1510His)
c.4401G>T (p.Gln1467His)
c.4380G>T (p.Gln1460His)
n.4675G>T
6g.157200954T>ACA366241300ARID1Bc.4570T>A (p.Ser1524Thr)
c.4639T>A (p.Ser1547Thr)
c.4858T>A (p.Ser1620Thr)
c.4609T>A (p.Ser1537Thr)
c.4321T>A (p.Ser1441Thr)
c.2887T>A (p.Ser963Thr)
c.2050T>A (p.Ser684Thr)
c.1681T>A (p.Ser561Thr)
n.3192T>A
n.649T>A
c.4729T>A (p.Ser1577Thr)
n.2726T>A
c.2097T>A
c.2011T>A
n.1395T>A
c.2071T>A (p.Ser691Thr)
c.2230T>A (p.Ser744Thr)
c.4360T>A (p.Ser1454Thr)
c.4480T>A (p.Ser1494Thr)
c.3559T>A (p.Ser1187Thr)
c.3379T>A (p.Ser1127Thr)
c.3139T>A (p.Ser1047Thr)
c.2758T>A (p.Ser920Thr)
c.1621T>A (p.Ser541Thr)
c.4690T>A (p.Ser1564Thr)
c.4591T>A (p.Ser1531Thr)
c.4561T>A (p.Ser1521Thr)
c.4531T>A (p.Ser1511Thr)
c.4402T>A (p.Ser1468Thr)
c.4381T>A (p.Ser1461Thr)
n.4676T>A
6g.157200954T>CCA366241301ARID1Bc.4570T>C (p.Ser1524Pro)
c.4639T>C (p.Ser1547Pro)
c.4858T>C (p.Ser1620Pro)
c.4609T>C (p.Ser1537Pro)
c.4321T>C (p.Ser1441Pro)
c.2887T>C (p.Ser963Pro)
c.2050T>C (p.Ser684Pro)
c.1681T>C (p.Ser561Pro)
n.3192T>C
n.649T>C
c.4729T>C (p.Ser1577Pro)
n.2726T>C
c.2097T>C
c.2011T>C
n.1395T>C
c.2071T>C (p.Ser691Pro)
c.2230T>C (p.Ser744Pro)
c.4360T>C (p.Ser1454Pro)
c.4480T>C (p.Ser1494Pro)
c.3559T>C (p.Ser1187Pro)
c.3379T>C (p.Ser1127Pro)
c.3139T>C (p.Ser1047Pro)
c.2758T>C (p.Ser920Pro)
c.1621T>C (p.Ser541Pro)
c.4690T>C (p.Ser1564Pro)
c.4591T>C (p.Ser1531Pro)
c.4561T>C (p.Ser1521Pro)
c.4531T>C (p.Ser1511Pro)
c.4402T>C (p.Ser1468Pro)
c.4381T>C (p.Ser1461Pro)
n.4676T>C
6g.157200954T>GCA366241302ARID1Bc.4570T>G (p.Ser1524Ala)
c.4639T>G (p.Ser1547Ala)
c.4858T>G (p.Ser1620Ala)
c.4609T>G (p.Ser1537Ala)
c.4321T>G (p.Ser1441Ala)
c.2887T>G (p.Ser963Ala)
c.2050T>G (p.Ser684Ala)
c.1681T>G (p.Ser561Ala)
n.3192T>G
n.649T>G
c.4729T>G (p.Ser1577Ala)
n.2726T>G
c.2097T>G
c.2011T>G
n.1395T>G
c.2071T>G (p.Ser691Ala)
c.2230T>G (p.Ser744Ala)
c.4360T>G (p.Ser1454Ala)
c.4480T>G (p.Ser1494Ala)
c.3559T>G (p.Ser1187Ala)
c.3379T>G (p.Ser1127Ala)
c.3139T>G (p.Ser1047Ala)
c.2758T>G (p.Ser920Ala)
c.1621T>G (p.Ser541Ala)
c.4690T>G (p.Ser1564Ala)
c.4591T>G (p.Ser1531Ala)
c.4561T>G (p.Ser1521Ala)
c.4531T>G (p.Ser1511Ala)
c.4402T>G (p.Ser1468Ala)
c.4381T>G (p.Ser1461Ala)
n.4676T>G
6g.157200955C>ACA366241303ARID1Bc.4571C>A (p.Ser1524Ter)
c.4640C>A (p.Ser1547Ter)
c.4859C>A (p.Ser1620Ter)
c.4610C>A (p.Ser1537Ter)
c.4322C>A (p.Ser1441Ter)
c.2888C>A (p.Ser963Ter)
c.2051C>A (p.Ser684Ter)
c.1682C>A (p.Ser561Ter)
n.3193C>A
n.650C>A
c.4730C>A (p.Ser1577Ter)
n.2727C>A
c.2098C>A
c.2012C>A
n.1396C>A
c.2072C>A (p.Ser691Ter)
c.2231C>A (p.Ser744Ter)
c.4361C>A (p.Ser1454Ter)
c.4481C>A (p.Ser1494Ter)
c.3560C>A (p.Ser1187Ter)
c.3380C>A (p.Ser1127Ter)
c.3140C>A (p.Ser1047Ter)
c.2759C>A (p.Ser920Ter)
c.1622C>A (p.Ser541Ter)
c.4691C>A (p.Ser1564Ter)
c.4592C>A (p.Ser1531Ter)
c.4562C>A (p.Ser1521Ter)
c.4532C>A (p.Ser1511Ter)
c.4403C>A (p.Ser1468Ter)
c.4382C>A (p.Ser1461Ter)
n.4677C>A
dbSNP
6g.157200955C=CA1675543166ARID1Bc.4571C= (p.Ser1524=)
c.4640C= (p.Ser1547=)
c.4859C= (p.Ser1620=)
c.4610C= (p.Ser1537=)
c.4322C= (p.Ser1441=)
c.2888C= (p.Ser963=)
c.2051C= (p.Ser684=)
c.1682C= (p.Ser561=)
n.3193C=
n.650C=
c.4730C= (p.Ser1577=)
n.2727C=
c.2098C=
c.2012C=
n.1396C=
c.2072C= (p.Ser691=)
c.2231C= (p.Ser744=)
c.4361C= (p.Ser1454=)
c.4481C= (p.Ser1494=)
c.3560C= (p.Ser1187=)
c.3380C= (p.Ser1127=)
c.3140C= (p.Ser1047=)
c.2759C= (p.Ser920=)
c.1622C= (p.Ser541=)
c.4691C= (p.Ser1564=)
c.4592C= (p.Ser1531=)
c.4562C= (p.Ser1521=)
c.4532C= (p.Ser1511=)
c.4403C= (p.Ser1468=)
c.4382C= (p.Ser1461=)
n.4677C=
6g.157200955C>GCA366241304ARID1Bc.4571C>G (p.Ser1524Trp)
c.4640C>G (p.Ser1547Trp)
c.4859C>G (p.Ser1620Trp)
c.4610C>G (p.Ser1537Trp)
c.4322C>G (p.Ser1441Trp)
c.2888C>G (p.Ser963Trp)
c.2051C>G (p.Ser684Trp)
c.1682C>G (p.Ser561Trp)
n.3193C>G
n.650C>G
c.4730C>G (p.Ser1577Trp)
n.2727C>G
c.2098C>G
c.2012C>G
n.1396C>G
c.2072C>G (p.Ser691Trp)
c.2231C>G (p.Ser744Trp)
c.4361C>G (p.Ser1454Trp)
c.4481C>G (p.Ser1494Trp)
c.3560C>G (p.Ser1187Trp)
c.3380C>G (p.Ser1127Trp)
c.3140C>G (p.Ser1047Trp)
c.2759C>G (p.Ser920Trp)
c.1622C>G (p.Ser541Trp)
c.4691C>G (p.Ser1564Trp)
c.4592C>G (p.Ser1531Trp)
c.4562C>G (p.Ser1521Trp)
c.4532C>G (p.Ser1511Trp)
c.4403C>G (p.Ser1468Trp)
c.4382C>G (p.Ser1461Trp)
n.4677C>G
6g.157200955C>TCA366241305ARID1Bc.4571C>T (p.Ser1524Leu)
c.4640C>T (p.Ser1547Leu)
c.4859C>T (p.Ser1620Leu)
c.4610C>T (p.Ser1537Leu)
c.4322C>T (p.Ser1441Leu)
c.2888C>T (p.Ser963Leu)
c.2051C>T (p.Ser684Leu)
c.1682C>T (p.Ser561Leu)
n.3193C>T
n.650C>T
c.4730C>T (p.Ser1577Leu)
n.2727C>T
c.2098C>T
c.2012C>T
n.1396C>T
c.2072C>T (p.Ser691Leu)
c.2231C>T (p.Ser744Leu)
c.4361C>T (p.Ser1454Leu)
c.4481C>T (p.Ser1494Leu)
c.3560C>T (p.Ser1187Leu)
c.3380C>T (p.Ser1127Leu)
c.3140C>T (p.Ser1047Leu)
c.2759C>T (p.Ser920Leu)
c.1622C>T (p.Ser541Leu)
c.4691C>T (p.Ser1564Leu)
c.4592C>T (p.Ser1531Leu)
c.4562C>T (p.Ser1521Leu)
c.4532C>T (p.Ser1511Leu)
c.4403C>T (p.Ser1468Leu)
c.4382C>T (p.Ser1461Leu)
n.4677C>T
dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
6g.157200956G>ACA4067696ARID1Bc.4572G>A (p.Ser1524=)
c.4641G>A (p.Ser1547=)
c.4860G>A (p.Ser1620=)
c.4611G>A (p.Ser1537=)
c.4323G>A (p.Ser1441=)
c.2889G>A (p.Ser963=)
c.2052G>A (p.Ser684=)
c.1683G>A (p.Ser561=)
n.3194G>A
n.651G>A
c.4731G>A (p.Ser1577=)
n.2728G>A
c.2099G>A
c.2013G>A
n.1397G>A
c.2073G>A (p.Ser691=)
c.2232G>A (p.Ser744=)
c.4362G>A (p.Ser1454=)
c.4482G>A (p.Ser1494=)
c.3561G>A (p.Ser1187=)
c.3381G>A (p.Ser1127=)
c.3141G>A (p.Ser1047=)
c.2760G>A (p.Ser920=)
c.1623G>A (p.Ser541=)
c.4692G>A (p.Ser1564=)
c.4593G>A (p.Ser1531=)
c.4563G>A (p.Ser1521=)
c.4533G>A (p.Ser1511=)
c.4404G>A (p.Ser1468=)
c.4383G>A (p.Ser1461=)
n.4678G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.157200956G>CCA452978055ARID1Bc.4572G>C (p.Ser1524=)
c.4641G>C (p.Ser1547=)
c.4860G>C (p.Ser1620=)
c.4611G>C (p.Ser1537=)
c.4323G>C (p.Ser1441=)
c.2889G>C (p.Ser963=)
c.2052G>C (p.Ser684=)
c.1683G>C (p.Ser561=)
n.3194G>C
n.651G>C
c.4731G>C (p.Ser1577=)
n.2728G>C
c.2099G>C
c.2013G>C
n.1397G>C
c.2073G>C (p.Ser691=)
c.2232G>C (p.Ser744=)
c.4362G>C (p.Ser1454=)
c.4482G>C (p.Ser1494=)
c.3561G>C (p.Ser1187=)
c.3381G>C (p.Ser1127=)
c.3141G>C (p.Ser1047=)
c.2760G>C (p.Ser920=)
c.1623G>C (p.Ser541=)
c.4692G>C (p.Ser1564=)
c.4593G>C (p.Ser1531=)
c.4563G>C (p.Ser1521=)
c.4533G>C (p.Ser1511=)
c.4404G>C (p.Ser1468=)
c.4383G>C (p.Ser1461=)
n.4678G>C
6g.157200956G=CA1675543167ARID1Bc.4572G= (p.Ser1524=)
c.4641G= (p.Ser1547=)
c.4860G= (p.Ser1620=)
c.4611G= (p.Ser1537=)
c.4323G= (p.Ser1441=)
c.2889G= (p.Ser963=)
c.2052G= (p.Ser684=)
c.1683G= (p.Ser561=)
n.3194G=
n.651G=
c.4731G= (p.Ser1577=)
n.2728G=
c.2099G=
c.2013G=
n.1397G=
c.2073G= (p.Ser691=)
c.2232G= (p.Ser744=)
c.4362G= (p.Ser1454=)
c.4482G= (p.Ser1494=)
c.3561G= (p.Ser1187=)
c.3381G= (p.Ser1127=)
c.3141G= (p.Ser1047=)
c.2760G= (p.Ser920=)
c.1623G= (p.Ser541=)
c.4692G= (p.Ser1564=)
c.4593G= (p.Ser1531=)
c.4563G= (p.Ser1521=)
c.4533G= (p.Ser1511=)
c.4404G= (p.Ser1468=)
c.4383G= (p.Ser1461=)
n.4678G=
6g.157200956G>TCA452978053ARID1Bc.4572G>T (p.Ser1524=)
c.4641G>T (p.Ser1547=)
c.4860G>T (p.Ser1620=)
c.4611G>T (p.Ser1537=)
c.4323G>T (p.Ser1441=)
c.2889G>T (p.Ser963=)
c.2052G>T (p.Ser684=)
c.1683G>T (p.Ser561=)
n.3194G>T
n.651G>T
c.4731G>T (p.Ser1577=)
n.2728G>T
c.2099G>T
c.2013G>T
n.1397G>T
c.2073G>T (p.Ser691=)
c.2232G>T (p.Ser744=)
c.4362G>T (p.Ser1454=)
c.4482G>T (p.Ser1494=)
c.3561G>T (p.Ser1187=)
c.3381G>T (p.Ser1127=)
c.3141G>T (p.Ser1047=)
c.2760G>T (p.Ser920=)
c.1623G>T (p.Ser541=)
c.4692G>T (p.Ser1564=)
c.4593G>T (p.Ser1531=)
c.4563G>T (p.Ser1521=)
c.4533G>T (p.Ser1511=)
c.4404G>T (p.Ser1468=)
c.4383G>T (p.Ser1461=)
n.4678G>T
ClinVar gnomAD v4
6g.157200957T>ACA366241306ARID1Bc.4573T>A (p.Ser1525Thr)
c.4642T>A (p.Ser1548Thr)
c.4861T>A (p.Ser1621Thr)
c.4612T>A (p.Ser1538Thr)
c.4324T>A (p.Ser1442Thr)
c.2890T>A (p.Ser964Thr)
c.2053T>A (p.Ser685Thr)
c.1684T>A (p.Ser562Thr)
n.3195T>A
n.652T>A
c.4732T>A (p.Ser1578Thr)
n.2729T>A
c.2100T>A
c.2014T>A
n.1398T>A
c.2074T>A (p.Ser692Thr)
c.2233T>A (p.Ser745Thr)
c.4363T>A (p.Ser1455Thr)
c.4483T>A (p.Ser1495Thr)
c.3562T>A (p.Ser1188Thr)
c.3382T>A (p.Ser1128Thr)
c.3142T>A (p.Ser1048Thr)
c.2761T>A (p.Ser921Thr)
c.1624T>A (p.Ser542Thr)
c.4693T>A (p.Ser1565Thr)
c.4594T>A (p.Ser1532Thr)
c.4564T>A (p.Ser1522Thr)
c.4534T>A (p.Ser1512Thr)
c.4405T>A (p.Ser1469Thr)
c.4384T>A (p.Ser1462Thr)
n.4679T>A
dbSNP
6g.157200957T>CCA4067697ARID1Bc.4573T>C (p.Ser1525Pro)
c.4642T>C (p.Ser1548Pro)
c.4861T>C (p.Ser1621Pro)
c.4612T>C (p.Ser1538Pro)
c.4324T>C (p.Ser1442Pro)
c.2890T>C (p.Ser964Pro)
c.2053T>C (p.Ser685Pro)
c.1684T>C (p.Ser562Pro)
n.3195T>C
n.652T>C
c.4732T>C (p.Ser1578Pro)
n.2729T>C
c.2100T>C
c.2014T>C
n.1398T>C
c.2074T>C (p.Ser692Pro)
c.2233T>C (p.Ser745Pro)
c.4363T>C (p.Ser1455Pro)
c.4483T>C (p.Ser1495Pro)
c.3562T>C (p.Ser1188Pro)
c.3382T>C (p.Ser1128Pro)
c.3142T>C (p.Ser1048Pro)
c.2761T>C (p.Ser921Pro)
c.1624T>C (p.Ser542Pro)
c.4693T>C (p.Ser1565Pro)
c.4594T>C (p.Ser1532Pro)
c.4564T>C (p.Ser1522Pro)
c.4534T>C (p.Ser1512Pro)
c.4405T>C (p.Ser1469Pro)
c.4384T>C (p.Ser1462Pro)
n.4679T>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.157200957T>GCA366241307ARID1Bc.4573T>G (p.Ser1525Ala)
c.4642T>G (p.Ser1548Ala)
c.4861T>G (p.Ser1621Ala)
c.4612T>G (p.Ser1538Ala)
c.4324T>G (p.Ser1442Ala)
c.2890T>G (p.Ser964Ala)
c.2053T>G (p.Ser685Ala)
c.1684T>G (p.Ser562Ala)
n.3195T>G
n.652T>G
c.4732T>G (p.Ser1578Ala)
n.2729T>G
c.2100T>G
c.2014T>G
n.1398T>G
c.2074T>G (p.Ser692Ala)
c.2233T>G (p.Ser745Ala)
c.4363T>G (p.Ser1455Ala)
c.4483T>G (p.Ser1495Ala)
c.3562T>G (p.Ser1188Ala)
c.3382T>G (p.Ser1128Ala)
c.3142T>G (p.Ser1048Ala)
c.2761T>G (p.Ser921Ala)
c.1624T>G (p.Ser542Ala)
c.4693T>G (p.Ser1565Ala)
c.4594T>G (p.Ser1532Ala)
c.4564T>G (p.Ser1522Ala)
c.4534T>G (p.Ser1512Ala)
c.4405T>G (p.Ser1469Ala)
c.4384T>G (p.Ser1462Ala)
n.4679T>G
6g.157200957T=CA1675543168ARID1Bc.4573T= (p.Ser1525=)
c.4642T= (p.Ser1548=)
c.4861T= (p.Ser1621=)
c.4612T= (p.Ser1538=)
c.4324T= (p.Ser1442=)
c.2890T= (p.Ser964=)
c.2053T= (p.Ser685=)
c.1684T= (p.Ser562=)
n.3195T=
n.652T=
c.4732T= (p.Ser1578=)
n.2729T=
c.2100T=
c.2014T=
n.1398T=
c.2074T= (p.Ser692=)
c.2233T= (p.Ser745=)
c.4363T= (p.Ser1455=)
c.4483T= (p.Ser1495=)
c.3562T= (p.Ser1188=)
c.3382T= (p.Ser1128=)
c.3142T= (p.Ser1048=)
c.2761T= (p.Ser921=)
c.1624T= (p.Ser542=)
c.4693T= (p.Ser1565=)
c.4594T= (p.Ser1532=)
c.4564T= (p.Ser1522=)
c.4534T= (p.Ser1512=)
c.4405T= (p.Ser1469=)
c.4384T= (p.Ser1462=)
n.4679T=
6g.157200957_157200958delinsTCCA1675543169ARID1Bc.4573_4574delinsTC (p.Ser1525=)
c.4642_4643delinsTC (p.Ser1548=)
c.4861_4862delinsTC (p.Ser1621=)
c.4612_4613delinsTC (p.Ser1538=)
c.4324_4325delinsTC (p.Ser1442=)
c.2890_2891delinsTC (p.Ser964=)
c.2053_2054delinsTC (p.Ser685=)
c.1684_1685delinsTC (p.Ser562=)
n.3195_3196delinsTC
n.652_653delinsTC
c.4732_4733delinsTC (p.Ser1578=)
n.2729_2730delinsTC
c.2100_2101delinsTC
c.2014_2015delinsTC
n.1398_1399delinsTC
c.2074_2075delinsTC (p.Ser692=)
c.2233_2234delinsTC (p.Ser745=)
c.4363_4364delinsTC (p.Ser1455=)
c.4483_4484delinsTC (p.Ser1495=)
c.3562_3563delinsTC (p.Ser1188=)
c.3382_3383delinsTC (p.Ser1128=)
c.3142_3143delinsTC (p.Ser1048=)
c.2761_2762delinsTC (p.Ser921=)
c.1624_1625delinsTC (p.Ser542=)
c.4693_4694delinsTC (p.Ser1565=)
c.4594_4595delinsTC (p.Ser1532=)
c.4564_4565delinsTC (p.Ser1522=)
c.4534_4535delinsTC (p.Ser1512=)
c.4405_4406delinsTC (p.Ser1469=)
c.4384_4385delinsTC (p.Ser1462=)
n.4679_4680delinsTC
6g.157200958C>ACA366241308ARID1Bc.4574C>A (p.Ser1525Tyr)
c.4643C>A (p.Ser1548Tyr)
c.4862C>A (p.Ser1621Tyr)
c.4613C>A (p.Ser1538Tyr)
c.4325C>A (p.Ser1442Tyr)
c.2891C>A (p.Ser964Tyr)
c.2054C>A (p.Ser685Tyr)
c.1685C>A (p.Ser562Tyr)
n.3196C>A
n.653C>A
c.4733C>A (p.Ser1578Tyr)
n.2730C>A
c.2101C>A
c.2015C>A
n.1399C>A
c.2075C>A (p.Ser692Tyr)
c.2234C>A (p.Ser745Tyr)
c.4364C>A (p.Ser1455Tyr)
c.4484C>A (p.Ser1495Tyr)
c.3563C>A (p.Ser1188Tyr)
c.3383C>A (p.Ser1128Tyr)
c.3143C>A (p.Ser1048Tyr)
c.2762C>A (p.Ser921Tyr)
c.1625C>A (p.Ser542Tyr)
c.4694C>A (p.Ser1565Tyr)
c.4595C>A (p.Ser1532Tyr)
c.4565C>A (p.Ser1522Tyr)
c.4535C>A (p.Ser1512Tyr)
c.4406C>A (p.Ser1469Tyr)
c.4385C>A (p.Ser1462Tyr)
n.4680C>A
6g.157200958C>GCA366241310ARID1Bc.4574C>G (p.Ser1525Cys)
c.4643C>G (p.Ser1548Cys)
c.4862C>G (p.Ser1621Cys)
c.4613C>G (p.Ser1538Cys)
c.4325C>G (p.Ser1442Cys)
c.2891C>G (p.Ser964Cys)
c.2054C>G (p.Ser685Cys)
c.1685C>G (p.Ser562Cys)
n.3196C>G
n.653C>G
c.4733C>G (p.Ser1578Cys)
n.2730C>G
c.2101C>G
c.2015C>G
n.1399C>G
c.2075C>G (p.Ser692Cys)
c.2234C>G (p.Ser745Cys)
c.4364C>G (p.Ser1455Cys)
c.4484C>G (p.Ser1495Cys)
c.3563C>G (p.Ser1188Cys)
c.3383C>G (p.Ser1128Cys)
c.3143C>G (p.Ser1048Cys)
c.2762C>G (p.Ser921Cys)
c.1625C>G (p.Ser542Cys)
c.4694C>G (p.Ser1565Cys)
c.4595C>G (p.Ser1532Cys)
c.4565C>G (p.Ser1522Cys)
c.4535C>G (p.Ser1512Cys)
c.4406C>G (p.Ser1469Cys)
c.4385C>G (p.Ser1462Cys)
n.4680C>G
dbSNP
6g.157200958C>TCA366241309ARID1Bc.4574C>T (p.Ser1525Phe)
c.4643C>T (p.Ser1548Phe)
c.4862C>T (p.Ser1621Phe)
c.4613C>T (p.Ser1538Phe)
c.4325C>T (p.Ser1442Phe)
c.2891C>T (p.Ser964Phe)
c.2054C>T (p.Ser685Phe)
c.1685C>T (p.Ser562Phe)
n.3196C>T
n.653C>T
c.4733C>T (p.Ser1578Phe)
n.2730C>T
c.2101C>T
c.2015C>T
n.1399C>T
c.2075C>T (p.Ser692Phe)
c.2234C>T (p.Ser745Phe)
c.4364C>T (p.Ser1455Phe)
c.4484C>T (p.Ser1495Phe)
c.3563C>T (p.Ser1188Phe)
c.3383C>T (p.Ser1128Phe)
c.3143C>T (p.Ser1048Phe)
c.2762C>T (p.Ser921Phe)
c.1625C>T (p.Ser542Phe)
c.4694C>T (p.Ser1565Phe)
c.4595C>T (p.Ser1532Phe)
c.4565C>T (p.Ser1522Phe)
c.4535C>T (p.Ser1512Phe)
c.4406C>T (p.Ser1469Phe)
c.4385C>T (p.Ser1462Phe)
n.4680C>T
dbSNP gnomAD v4
6g.157200959delCA658821556ARID1Bc.4575del (p.Ser1526ProfsTer?)
c.4644del (p.Ser1549ProfsTer?)
c.4863del (p.Ser1622ProfsTer?)
c.4614del (p.Ser1539ProfsTer?)
c.4326del (p.Ser1443ProfsTer?)
c.2892del (p.Ser965ProfsTer?)
c.2055del (p.Ser686ProfsTer?)
c.1686del (p.Ser563ProfsTer?)
n.3197del
n.654del
c.4734del (p.Ser1579ProfsTer?)
n.2731del
c.2102del
c.2016del
n.1400del
c.2076del (p.Ser693ProfsTer?)
c.2235del (p.Ser746ProfsTer?)
c.4365del (p.Ser1456ProfsTer?)
c.4485del (p.Ser1496ProfsTer?)
c.3564del (p.Ser1189ProfsTer?)
c.3384del (p.Ser1129ProfsTer?)
c.3144del (p.Ser1049ProfsTer?)
c.2763del (p.Ser922ProfsTer?)
c.1626del (p.Ser543ProfsTer?)
c.4695del (p.Ser1566ProfsTer?)
c.4596del (p.Ser1533ProfsTer?)
c.4566del (p.Ser1523ProfsTer?)
c.4536del (p.Ser1513ProfsTer?)
c.4407del (p.Ser1470ProfsTer?)
c.4386del (p.Ser1463ProfsTer?)
n.4681del
ClinVar dbSNP
6g.157200959C>ACA452978059ARID1Bc.4575C>A (p.Ser1525=)
c.4644C>A (p.Ser1548=)
c.4863C>A (p.Ser1621=)
c.4614C>A (p.Ser1538=)
c.4326C>A (p.Ser1442=)
c.2892C>A (p.Ser964=)
c.2055C>A (p.Ser685=)
c.1686C>A (p.Ser562=)
n.3197C>A
n.654C>A
c.4734C>A (p.Ser1578=)
n.2731C>A
c.2102C>A
c.2016C>A
n.1400C>A
c.2076C>A (p.Ser692=)
c.2235C>A (p.Ser745=)
c.4365C>A (p.Ser1455=)
c.4485C>A (p.Ser1495=)
c.3564C>A (p.Ser1188=)
c.3384C>A (p.Ser1128=)
c.3144C>A (p.Ser1048=)
c.2763C>A (p.Ser921=)
c.1626C>A (p.Ser542=)
c.4695C>A (p.Ser1565=)
c.4596C>A (p.Ser1532=)
c.4566C>A (p.Ser1522=)
c.4536C>A (p.Ser1512=)
c.4407C>A (p.Ser1469=)
c.4386C>A (p.Ser1462=)
n.4681C>A
dbSNP
6g.157200959C=CA1675543170ARID1Bc.4575C= (p.Ser1525=)
c.4644C= (p.Ser1548=)
c.4863C= (p.Ser1621=)
c.4614C= (p.Ser1538=)
c.4326C= (p.Ser1442=)
c.2892C= (p.Ser964=)
c.2055C= (p.Ser685=)
c.1686C= (p.Ser562=)
n.3197C=
n.654C=
c.4734C= (p.Ser1578=)
n.2731C=
c.2102C=
c.2016C=
n.1400C=
c.2076C= (p.Ser692=)
c.2235C= (p.Ser745=)
c.4365C= (p.Ser1455=)
c.4485C= (p.Ser1495=)
c.3564C= (p.Ser1188=)
c.3384C= (p.Ser1128=)
c.3144C= (p.Ser1048=)
c.2763C= (p.Ser921=)
c.1626C= (p.Ser542=)
c.4695C= (p.Ser1565=)
c.4596C= (p.Ser1532=)
c.4566C= (p.Ser1522=)
c.4536C= (p.Ser1512=)
c.4407C= (p.Ser1469=)
c.4386C= (p.Ser1462=)
n.4681C=
6g.157200959C>GCA452978060ARID1Bc.4575C>G (p.Ser1525=)
c.4644C>G (p.Ser1548=)
c.4863C>G (p.Ser1621=)
c.4614C>G (p.Ser1538=)
c.4326C>G (p.Ser1442=)
c.2892C>G (p.Ser964=)
c.2055C>G (p.Ser685=)
c.1686C>G (p.Ser562=)
n.3197C>G
n.654C>G
c.4734C>G (p.Ser1578=)
n.2731C>G
c.2102C>G
c.2016C>G
n.1400C>G
c.2076C>G (p.Ser692=)
c.2235C>G (p.Ser745=)
c.4365C>G (p.Ser1455=)
c.4485C>G (p.Ser1495=)
c.3564C>G (p.Ser1188=)
c.3384C>G (p.Ser1128=)
c.3144C>G (p.Ser1048=)
c.2763C>G (p.Ser921=)
c.1626C>G (p.Ser542=)
c.4695C>G (p.Ser1565=)
c.4596C>G (p.Ser1532=)
c.4566C>G (p.Ser1522=)
c.4536C>G (p.Ser1512=)
c.4407C>G (p.Ser1469=)
c.4386C>G (p.Ser1462=)
n.4681C>G
6g.157200959C>TCA452978061ARID1Bc.4575C>T (p.Ser1525=)
c.4644C>T (p.Ser1548=)
c.4863C>T (p.Ser1621=)
c.4614C>T (p.Ser1538=)
c.4326C>T (p.Ser1442=)
c.2892C>T (p.Ser964=)
c.2055C>T (p.Ser685=)
c.1686C>T (p.Ser562=)
n.3197C>T
n.654C>T
c.4734C>T (p.Ser1578=)
n.2731C>T
c.2102C>T
c.2016C>T
n.1400C>T
c.2076C>T (p.Ser692=)
c.2235C>T (p.Ser745=)
c.4365C>T (p.Ser1455=)
c.4485C>T (p.Ser1495=)
c.3564C>T (p.Ser1188=)
c.3384C>T (p.Ser1128=)
c.3144C>T (p.Ser1048=)
c.2763C>T (p.Ser921=)
c.1626C>T (p.Ser542=)
c.4695C>T (p.Ser1565=)
c.4596C>T (p.Ser1532=)
c.4566C>T (p.Ser1522=)
c.4536C>T (p.Ser1512=)
c.4407C>T (p.Ser1469=)
c.4386C>T (p.Ser1462=)
n.4681C>T
dbSNP gnomAD v2 gnomAD v4
6g.157200960T>ACA366241311ARID1Bc.4576T>A (p.Ser1526Thr)
c.4645T>A (p.Ser1549Thr)
c.4864T>A (p.Ser1622Thr)
c.4615T>A (p.Ser1539Thr)
c.4327T>A (p.Ser1443Thr)
c.2893T>A (p.Ser965Thr)
c.2056T>A (p.Ser686Thr)
c.1687T>A (p.Ser563Thr)
n.3198T>A
n.655T>A
c.4735T>A (p.Ser1579Thr)
n.2732T>A
c.2103T>A
c.2017T>A
n.1401T>A
c.2077T>A (p.Ser693Thr)
c.2236T>A (p.Ser746Thr)
c.4366T>A (p.Ser1456Thr)
c.4486T>A (p.Ser1496Thr)
c.3565T>A (p.Ser1189Thr)
c.3385T>A (p.Ser1129Thr)
c.3145T>A (p.Ser1049Thr)
c.2764T>A (p.Ser922Thr)
c.1627T>A (p.Ser543Thr)
c.4696T>A (p.Ser1566Thr)
c.4597T>A (p.Ser1533Thr)
c.4567T>A (p.Ser1523Thr)
c.4537T>A (p.Ser1513Thr)
c.4408T>A (p.Ser1470Thr)
c.4387T>A (p.Ser1463Thr)
n.4682T>A
6g.157200960T>CCA366241312ARID1Bc.4576T>C (p.Ser1526Pro)
c.4645T>C (p.Ser1549Pro)
c.4864T>C (p.Ser1622Pro)
c.4615T>C (p.Ser1539Pro)
c.4327T>C (p.Ser1443Pro)
c.2893T>C (p.Ser965Pro)
c.2056T>C (p.Ser686Pro)
c.1687T>C (p.Ser563Pro)
n.3198T>C
n.655T>C
c.4735T>C (p.Ser1579Pro)
n.2732T>C
c.2103T>C
c.2017T>C
n.1401T>C
c.2077T>C (p.Ser693Pro)
c.2236T>C (p.Ser746Pro)
c.4366T>C (p.Ser1456Pro)
c.4486T>C (p.Ser1496Pro)
c.3565T>C (p.Ser1189Pro)
c.3385T>C (p.Ser1129Pro)
c.3145T>C (p.Ser1049Pro)
c.2764T>C (p.Ser922Pro)
c.1627T>C (p.Ser543Pro)
c.4696T>C (p.Ser1566Pro)
c.4597T>C (p.Ser1533Pro)
c.4567T>C (p.Ser1523Pro)
c.4537T>C (p.Ser1513Pro)
c.4408T>C (p.Ser1470Pro)
c.4387T>C (p.Ser1463Pro)
n.4682T>C
6g.157200960T>GCA366241313ARID1Bc.4576T>G (p.Ser1526Ala)
c.4645T>G (p.Ser1549Ala)
c.4864T>G (p.Ser1622Ala)
c.4615T>G (p.Ser1539Ala)
c.4327T>G (p.Ser1443Ala)
c.2893T>G (p.Ser965Ala)
c.2056T>G (p.Ser686Ala)
c.1687T>G (p.Ser563Ala)
n.3198T>G
n.655T>G
c.4735T>G (p.Ser1579Ala)
n.2732T>G
c.2103T>G
c.2017T>G
n.1401T>G
c.2077T>G (p.Ser693Ala)
c.2236T>G (p.Ser746Ala)
c.4366T>G (p.Ser1456Ala)
c.4486T>G (p.Ser1496Ala)
c.3565T>G (p.Ser1189Ala)
c.3385T>G (p.Ser1129Ala)
c.3145T>G (p.Ser1049Ala)
c.2764T>G (p.Ser922Ala)
c.1627T>G (p.Ser543Ala)
c.4696T>G (p.Ser1566Ala)
c.4597T>G (p.Ser1533Ala)
c.4567T>G (p.Ser1523Ala)
c.4537T>G (p.Ser1513Ala)
c.4408T>G (p.Ser1470Ala)
c.4387T>G (p.Ser1463Ala)
n.4682T>G
6g.157200961C>ACA366241314ARID1Bc.4577C>A (p.Ser1526Tyr)
c.4646C>A (p.Ser1549Tyr)
c.4865C>A (p.Ser1622Tyr)
c.4616C>A (p.Ser1539Tyr)
c.4328C>A (p.Ser1443Tyr)
c.2894C>A (p.Ser965Tyr)
c.2057C>A (p.Ser686Tyr)
c.1688C>A (p.Ser563Tyr)
n.3199C>A
n.656C>A
c.4736C>A (p.Ser1579Tyr)
n.2733C>A
c.2104C>A
c.2018C>A
n.1402C>A
c.2078C>A (p.Ser693Tyr)
c.2237C>A (p.Ser746Tyr)
c.4367C>A (p.Ser1456Tyr)
c.4487C>A (p.Ser1496Tyr)
c.3566C>A (p.Ser1189Tyr)
c.3386C>A (p.Ser1129Tyr)
c.3146C>A (p.Ser1049Tyr)
c.2765C>A (p.Ser922Tyr)
c.1628C>A (p.Ser543Tyr)
c.4697C>A (p.Ser1566Tyr)
c.4598C>A (p.Ser1533Tyr)
c.4568C>A (p.Ser1523Tyr)
c.4538C>A (p.Ser1513Tyr)
c.4409C>A (p.Ser1470Tyr)
c.4388C>A (p.Ser1463Tyr)
n.4683C>A
6g.157200961C>GCA366241315ARID1Bc.4577C>G (p.Ser1526Cys)
c.4646C>G (p.Ser1549Cys)
c.4865C>G (p.Ser1622Cys)
c.4616C>G (p.Ser1539Cys)
c.4328C>G (p.Ser1443Cys)
c.2894C>G (p.Ser965Cys)
c.2057C>G (p.Ser686Cys)
c.1688C>G (p.Ser563Cys)
n.3199C>G
n.656C>G
c.4736C>G (p.Ser1579Cys)
n.2733C>G
c.2104C>G
c.2018C>G
n.1402C>G
c.2078C>G (p.Ser693Cys)
c.2237C>G (p.Ser746Cys)
c.4367C>G (p.Ser1456Cys)
c.4487C>G (p.Ser1496Cys)
c.3566C>G (p.Ser1189Cys)
c.3386C>G (p.Ser1129Cys)
c.3146C>G (p.Ser1049Cys)
c.2765C>G (p.Ser922Cys)
c.1628C>G (p.Ser543Cys)
c.4697C>G (p.Ser1566Cys)
c.4598C>G (p.Ser1533Cys)
c.4568C>G (p.Ser1523Cys)
c.4538C>G (p.Ser1513Cys)
c.4409C>G (p.Ser1470Cys)
c.4388C>G (p.Ser1463Cys)
n.4683C>G
6g.157200961C>TCA366241316ARID1Bc.4577C>T (p.Ser1526Phe)
c.4646C>T (p.Ser1549Phe)
c.4865C>T (p.Ser1622Phe)
c.4616C>T (p.Ser1539Phe)
c.4328C>T (p.Ser1443Phe)
c.2894C>T (p.Ser965Phe)
c.2057C>T (p.Ser686Phe)
c.1688C>T (p.Ser563Phe)
n.3199C>T
n.656C>T
c.4736C>T (p.Ser1579Phe)
n.2733C>T
c.2104C>T
c.2018C>T
n.1402C>T
c.2078C>T (p.Ser693Phe)
c.2237C>T (p.Ser746Phe)
c.4367C>T (p.Ser1456Phe)
c.4487C>T (p.Ser1496Phe)
c.3566C>T (p.Ser1189Phe)
c.3386C>T (p.Ser1129Phe)
c.3146C>T (p.Ser1049Phe)
c.2765C>T (p.Ser922Phe)
c.1628C>T (p.Ser543Phe)
c.4697C>T (p.Ser1566Phe)
c.4598C>T (p.Ser1533Phe)
c.4568C>T (p.Ser1523Phe)
c.4538C>T (p.Ser1513Phe)
c.4409C>T (p.Ser1470Phe)
c.4388C>T (p.Ser1463Phe)
n.4683C>T
6g.157200962delCA2713416290ARID1Bc.4578del (p.Ser1527ValfsTer?)
c.4647del (p.Ser1550ValfsTer?)
c.4866del (p.Ser1623ValfsTer?)
c.4617del (p.Ser1540ValfsTer?)
c.4329del (p.Ser1444ValfsTer?)
c.2895del (p.Ser966ValfsTer?)
c.2058del (p.Ser687ValfsTer?)
c.1689del (p.Ser564ValfsTer?)
n.3200del
n.657del
c.4737del (p.Ser1580ValfsTer?)
n.2734del
c.2105del
c.2019del
n.1403del
c.2079del (p.Ser694ValfsTer?)
c.2238del (p.Ser747ValfsTer?)
c.4368del (p.Ser1457ValfsTer?)
c.4488del (p.Ser1497ValfsTer?)
c.3567del (p.Ser1190ValfsTer?)
c.3387del (p.Ser1130ValfsTer?)
c.3147del (p.Ser1050ValfsTer?)
c.2766del (p.Ser923ValfsTer?)
c.1629del (p.Ser544ValfsTer?)
c.4698del (p.Ser1567ValfsTer?)
c.4599del (p.Ser1534ValfsTer?)
c.4569del (p.Ser1524ValfsTer?)
c.4539del (p.Ser1514ValfsTer?)
c.4410del (p.Ser1471ValfsTer?)
c.4389del (p.Ser1464ValfsTer?)
n.4684del
dbSNP
6g.157200962C>ACA452978065ARID1Bc.4578C>A (p.Ser1526=)
c.4647C>A (p.Ser1549=)
c.4866C>A (p.Ser1622=)
c.4617C>A (p.Ser1539=)
c.4329C>A (p.Ser1443=)
c.2895C>A (p.Ser965=)
c.2058C>A (p.Ser686=)
c.1689C>A (p.Ser563=)
n.3200C>A
n.657C>A
c.4737C>A (p.Ser1579=)
n.2734C>A
c.2105C>A
c.2019C>A
n.1403C>A
c.2079C>A (p.Ser693=)
c.2238C>A (p.Ser746=)
c.4368C>A (p.Ser1456=)
c.4488C>A (p.Ser1496=)
c.3567C>A (p.Ser1189=)
c.3387C>A (p.Ser1129=)
c.3147C>A (p.Ser1049=)
c.2766C>A (p.Ser922=)
c.1629C>A (p.Ser543=)
c.4698C>A (p.Ser1566=)
c.4599C>A (p.Ser1533=)
c.4569C>A (p.Ser1523=)
c.4539C>A (p.Ser1513=)
c.4410C>A (p.Ser1470=)
c.4389C>A (p.Ser1463=)
n.4684C>A
dbSNP gnomAD v2 gnomAD v4
6g.157200962C=CA1675543171ARID1Bc.4578C= (p.Ser1526=)
c.4647C= (p.Ser1549=)
c.4866C= (p.Ser1622=)
c.4617C= (p.Ser1539=)
c.4329C= (p.Ser1443=)
c.2895C= (p.Ser965=)
c.2058C= (p.Ser686=)
c.1689C= (p.Ser563=)
n.3200C=
n.657C=
c.4737C= (p.Ser1579=)
n.2734C=
c.2105C=
c.2019C=
n.1403C=
c.2079C= (p.Ser693=)
c.2238C= (p.Ser746=)
c.4368C= (p.Ser1456=)
c.4488C= (p.Ser1496=)
c.3567C= (p.Ser1189=)
c.3387C= (p.Ser1129=)
c.3147C= (p.Ser1049=)
c.2766C= (p.Ser922=)
c.1629C= (p.Ser543=)
c.4698C= (p.Ser1566=)
c.4599C= (p.Ser1533=)
c.4569C= (p.Ser1523=)
c.4539C= (p.Ser1513=)
c.4410C= (p.Ser1470=)
c.4389C= (p.Ser1463=)
n.4684C=
6g.157200962C>GCA452978067ARID1Bc.4578C>G (p.Ser1526=)
c.4647C>G (p.Ser1549=)
c.4866C>G (p.Ser1622=)
c.4617C>G (p.Ser1539=)
c.4329C>G (p.Ser1443=)
c.2895C>G (p.Ser965=)
c.2058C>G (p.Ser686=)
c.1689C>G (p.Ser563=)
n.3200C>G
n.657C>G
c.4737C>G (p.Ser1579=)
n.2734C>G
c.2105C>G
c.2019C>G
n.1403C>G
c.2079C>G (p.Ser693=)
c.2238C>G (p.Ser746=)
c.4368C>G (p.Ser1456=)
c.4488C>G (p.Ser1496=)
c.3567C>G (p.Ser1189=)
c.3387C>G (p.Ser1129=)
c.3147C>G (p.Ser1049=)
c.2766C>G (p.Ser922=)
c.1629C>G (p.Ser543=)
c.4698C>G (p.Ser1566=)
c.4599C>G (p.Ser1533=)
c.4569C>G (p.Ser1523=)
c.4539C>G (p.Ser1513=)
c.4410C>G (p.Ser1470=)
c.4389C>G (p.Ser1463=)
n.4684C>G
dbSNP
6g.157200962C>TCA4067698ARID1Bc.4578C>T (p.Ser1526=)
c.4647C>T (p.Ser1549=)
c.4866C>T (p.Ser1622=)
c.4617C>T (p.Ser1539=)
c.4329C>T (p.Ser1443=)
c.2895C>T (p.Ser965=)
c.2058C>T (p.Ser686=)
c.1689C>T (p.Ser563=)
n.3200C>T
n.657C>T
c.4737C>T (p.Ser1579=)
n.2734C>T
c.2105C>T
c.2019C>T
n.1403C>T
c.2079C>T (p.Ser693=)
c.2238C>T (p.Ser746=)
c.4368C>T (p.Ser1456=)
c.4488C>T (p.Ser1496=)
c.3567C>T (p.Ser1189=)
c.3387C>T (p.Ser1129=)
c.3147C>T (p.Ser1049=)
c.2766C>T (p.Ser922=)
c.1629C>T (p.Ser543=)
c.4698C>T (p.Ser1566=)
c.4599C>T (p.Ser1533=)
c.4569C>T (p.Ser1523=)
c.4539C>T (p.Ser1513=)
c.4410C>T (p.Ser1470=)
c.4389C>T (p.Ser1463=)
n.4684C>T
dbSNP ExAC gnomAD v2 gnomAD v4
6g.157200963A=CA1675543172ARID1Bc.4579A= (p.Ser1527=)
c.4648A= (p.Ser1550=)
c.4867A= (p.Ser1623=)
c.4618A= (p.Ser1540=)
c.4330A= (p.Ser1444=)
c.2896A= (p.Ser966=)
c.2059A= (p.Ser687=)
c.1690A= (p.Ser564=)
n.3201A=
n.658A=
c.4738A= (p.Ser1580=)
n.2735A=
c.2106A=
c.2020A=
n.1404A=
c.2080A= (p.Ser694=)
c.2239A= (p.Ser747=)
c.4369A= (p.Ser1457=)
c.4489A= (p.Ser1497=)
c.3568A= (p.Ser1190=)
c.3388A= (p.Ser1130=)
c.3148A= (p.Ser1050=)
c.2767A= (p.Ser923=)
c.1630A= (p.Ser544=)
c.4699A= (p.Ser1567=)
c.4600A= (p.Ser1534=)
c.4570A= (p.Ser1524=)
c.4540A= (p.Ser1514=)
c.4411A= (p.Ser1471=)
c.4390A= (p.Ser1464=)
n.4685A=
6g.157200963A>CCA366241317ARID1Bc.4579A>C (p.Ser1527Arg)
c.4648A>C (p.Ser1550Arg)
c.4867A>C (p.Ser1623Arg)
c.4618A>C (p.Ser1540Arg)
c.4330A>C (p.Ser1444Arg)
c.2896A>C (p.Ser966Arg)
c.2059A>C (p.Ser687Arg)
c.1690A>C (p.Ser564Arg)
n.3201A>C
n.658A>C
c.4738A>C (p.Ser1580Arg)
n.2735A>C
c.2106A>C
c.2020A>C
n.1404A>C
c.2080A>C (p.Ser694Arg)
c.2239A>C (p.Ser747Arg)
c.4369A>C (p.Ser1457Arg)
c.4489A>C (p.Ser1497Arg)
c.3568A>C (p.Ser1190Arg)
c.3388A>C (p.Ser1130Arg)
c.3148A>C (p.Ser1050Arg)
c.2767A>C (p.Ser923Arg)
c.1630A>C (p.Ser544Arg)
c.4699A>C (p.Ser1567Arg)
c.4600A>C (p.Ser1534Arg)
c.4570A>C (p.Ser1524Arg)
c.4540A>C (p.Ser1514Arg)
c.4411A>C (p.Ser1471Arg)
c.4390A>C (p.Ser1464Arg)
n.4685A>C
6g.157200963A>GCA366241318ARID1Bc.4579A>G (p.Ser1527Gly)
c.4648A>G (p.Ser1550Gly)
c.4867A>G (p.Ser1623Gly)
c.4618A>G (p.Ser1540Gly)
c.4330A>G (p.Ser1444Gly)
c.2896A>G (p.Ser966Gly)
c.2059A>G (p.Ser687Gly)
c.1690A>G (p.Ser564Gly)
n.3201A>G
n.658A>G
c.4738A>G (p.Ser1580Gly)
n.2735A>G
c.2106A>G
c.2020A>G
n.1404A>G
c.2080A>G (p.Ser694Gly)
c.2239A>G (p.Ser747Gly)
c.4369A>G (p.Ser1457Gly)
c.4489A>G (p.Ser1497Gly)
c.3568A>G (p.Ser1190Gly)
c.3388A>G (p.Ser1130Gly)
c.3148A>G (p.Ser1050Gly)
c.2767A>G (p.Ser923Gly)
c.1630A>G (p.Ser544Gly)
c.4699A>G (p.Ser1567Gly)
c.4600A>G (p.Ser1534Gly)
c.4570A>G (p.Ser1524Gly)
c.4540A>G (p.Ser1514Gly)
c.4411A>G (p.Ser1471Gly)
c.4390A>G (p.Ser1464Gly)
n.4685A>G
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.157200963A>TCA366241319ARID1Bc.4579A>T (p.Ser1527Cys)
c.4648A>T (p.Ser1550Cys)
c.4867A>T (p.Ser1623Cys)
c.4618A>T (p.Ser1540Cys)
c.4330A>T (p.Ser1444Cys)
c.2896A>T (p.Ser966Cys)
c.2059A>T (p.Ser687Cys)
c.1690A>T (p.Ser564Cys)
n.3201A>T
n.658A>T
c.4738A>T (p.Ser1580Cys)
n.2735A>T
c.2106A>T
c.2020A>T
n.1404A>T
c.2080A>T (p.Ser694Cys)
c.2239A>T (p.Ser747Cys)
c.4369A>T (p.Ser1457Cys)
c.4489A>T (p.Ser1497Cys)
c.3568A>T (p.Ser1190Cys)
c.3388A>T (p.Ser1130Cys)
c.3148A>T (p.Ser1050Cys)
c.2767A>T (p.Ser923Cys)
c.1630A>T (p.Ser544Cys)
c.4699A>T (p.Ser1567Cys)
c.4600A>T (p.Ser1534Cys)
c.4570A>T (p.Ser1524Cys)
c.4540A>T (p.Ser1514Cys)
c.4411A>T (p.Ser1471Cys)
c.4390A>T (p.Ser1464Cys)
n.4685A>T
6g.157200964G>ACA366241320ARID1Bc.4580G>A (p.Ser1527Asn)
c.4649G>A (p.Ser1550Asn)
c.4868G>A (p.Ser1623Asn)
c.4619G>A (p.Ser1540Asn)
c.4331G>A (p.Ser1444Asn)
c.2897G>A (p.Ser966Asn)
c.2060G>A (p.Ser687Asn)
c.1691G>A (p.Ser564Asn)
n.3202G>A
n.659G>A
c.4739G>A (p.Ser1580Asn)
n.2736G>A
c.2107G>A
c.2021G>A
n.1405G>A
c.2081G>A (p.Ser694Asn)
c.2240G>A (p.Ser747Asn)
c.4370G>A (p.Ser1457Asn)
c.4490G>A (p.Ser1497Asn)
c.3569G>A (p.Ser1190Asn)
c.3389G>A (p.Ser1130Asn)
c.3149G>A (p.Ser1050Asn)
c.2768G>A (p.Ser923Asn)
c.1631G>A (p.Ser544Asn)
c.4700G>A (p.Ser1567Asn)
c.4601G>A (p.Ser1534Asn)
c.4571G>A (p.Ser1524Asn)
c.4541G>A (p.Ser1514Asn)
c.4412G>A (p.Ser1471Asn)
c.4391G>A (p.Ser1464Asn)
n.4686G>A
dbSNP gnomAD v4
6g.157200964G>CCA366241321ARID1Bc.4580G>C (p.Ser1527Thr)
c.4649G>C (p.Ser1550Thr)
c.4868G>C (p.Ser1623Thr)
c.4619G>C (p.Ser1540Thr)
c.4331G>C (p.Ser1444Thr)
c.2897G>C (p.Ser966Thr)
c.2060G>C (p.Ser687Thr)
c.1691G>C (p.Ser564Thr)
n.3202G>C
n.659G>C
c.4739G>C (p.Ser1580Thr)
n.2736G>C
c.2107G>C
c.2021G>C
n.1405G>C
c.2081G>C (p.Ser694Thr)
c.2240G>C (p.Ser747Thr)
c.4370G>C (p.Ser1457Thr)
c.4490G>C (p.Ser1497Thr)
c.3569G>C (p.Ser1190Thr)
c.3389G>C (p.Ser1130Thr)
c.3149G>C (p.Ser1050Thr)
c.2768G>C (p.Ser923Thr)
c.1631G>C (p.Ser544Thr)
c.4700G>C (p.Ser1567Thr)
c.4601G>C (p.Ser1534Thr)
c.4571G>C (p.Ser1524Thr)
c.4541G>C (p.Ser1514Thr)
c.4412G>C (p.Ser1471Thr)
c.4391G>C (p.Ser1464Thr)
n.4686G>C
dbSNP gnomAD v2 gnomAD v4
6g.157200964G=CA1675543173ARID1Bc.4580G= (p.Ser1527=)
c.4649G= (p.Ser1550=)
c.4868G= (p.Ser1623=)
c.4619G= (p.Ser1540=)
c.4331G= (p.Ser1444=)
c.2897G= (p.Ser966=)
c.2060G= (p.Ser687=)
c.1691G= (p.Ser564=)
n.3202G=
n.659G=
c.4739G= (p.Ser1580=)
n.2736G=
c.2107G=
c.2021G=
n.1405G=
c.2081G= (p.Ser694=)
c.2240G= (p.Ser747=)
c.4370G= (p.Ser1457=)
c.4490G= (p.Ser1497=)
c.3569G= (p.Ser1190=)
c.3389G= (p.Ser1130=)
c.3149G= (p.Ser1050=)
c.2768G= (p.Ser923=)
c.1631G= (p.Ser544=)
c.4700G= (p.Ser1567=)
c.4601G= (p.Ser1534=)
c.4571G= (p.Ser1524=)
c.4541G= (p.Ser1514=)
c.4412G= (p.Ser1471=)
c.4391G= (p.Ser1464=)
n.4686G=
6g.157200964G>TCA366241322ARID1Bc.4580G>T (p.Ser1527Ile)
c.4649G>T (p.Ser1550Ile)
c.4868G>T (p.Ser1623Ile)
c.4619G>T (p.Ser1540Ile)
c.4331G>T (p.Ser1444Ile)
c.2897G>T (p.Ser966Ile)
c.2060G>T (p.Ser687Ile)
c.1691G>T (p.Ser564Ile)
n.3202G>T
n.659G>T
c.4739G>T (p.Ser1580Ile)
n.2736G>T
c.2107G>T
c.2021G>T
n.1405G>T
c.2081G>T (p.Ser694Ile)
c.2240G>T (p.Ser747Ile)
c.4370G>T (p.Ser1457Ile)
c.4490G>T (p.Ser1497Ile)
c.3569G>T (p.Ser1190Ile)
c.3389G>T (p.Ser1130Ile)
c.3149G>T (p.Ser1050Ile)
c.2768G>T (p.Ser923Ile)
c.1631G>T (p.Ser544Ile)
c.4700G>T (p.Ser1567Ile)
c.4601G>T (p.Ser1534Ile)
c.4571G>T (p.Ser1524Ile)
c.4541G>T (p.Ser1514Ile)
c.4412G>T (p.Ser1471Ile)
c.4391G>T (p.Ser1464Ile)
n.4686G>T
6g.157200965T>ACA366241323ARID1Bc.4581T>A (p.Ser1527Arg)
c.4650T>A (p.Ser1550Arg)
c.4869T>A (p.Ser1623Arg)
c.4620T>A (p.Ser1540Arg)
c.4332T>A (p.Ser1444Arg)
c.2898T>A (p.Ser966Arg)
c.2061T>A (p.Ser687Arg)
c.1692T>A (p.Ser564Arg)
n.3203T>A
n.660T>A
c.4740T>A (p.Ser1580Arg)
n.2737T>A
c.2108T>A
c.2022T>A
n.1406T>A
c.2082T>A (p.Ser694Arg)
c.2241T>A (p.Ser747Arg)
c.4371T>A (p.Ser1457Arg)
c.4491T>A (p.Ser1497Arg)
c.3570T>A (p.Ser1190Arg)
c.3390T>A (p.Ser1130Arg)
c.3150T>A (p.Ser1050Arg)
c.2769T>A (p.Ser923Arg)
c.1632T>A (p.Ser544Arg)
c.4701T>A (p.Ser1567Arg)
c.4602T>A (p.Ser1534Arg)
c.4572T>A (p.Ser1524Arg)
c.4542T>A (p.Ser1514Arg)
c.4413T>A (p.Ser1471Arg)
c.4392T>A (p.Ser1464Arg)
n.4687T>A
6g.157200965T>CCA452978069ARID1Bc.4581T>C (p.Ser1527=)
c.4650T>C (p.Ser1550=)
c.4869T>C (p.Ser1623=)
c.4620T>C (p.Ser1540=)
c.4332T>C (p.Ser1444=)
c.2898T>C (p.Ser966=)
c.2061T>C (p.Ser687=)
c.1692T>C (p.Ser564=)
n.3203T>C
n.660T>C
c.4740T>C (p.Ser1580=)
n.2737T>C
c.2108T>C
c.2022T>C
n.1406T>C
c.2082T>C (p.Ser694=)
c.2241T>C (p.Ser747=)
c.4371T>C (p.Ser1457=)
c.4491T>C (p.Ser1497=)
c.3570T>C (p.Ser1190=)
c.3390T>C (p.Ser1130=)
c.3150T>C (p.Ser1050=)
c.2769T>C (p.Ser923=)
c.1632T>C (p.Ser544=)
c.4701T>C (p.Ser1567=)
c.4602T>C (p.Ser1534=)
c.4572T>C (p.Ser1524=)
c.4542T>C (p.Ser1514=)
c.4413T>C (p.Ser1471=)
c.4392T>C (p.Ser1464=)
n.4687T>C
6g.157200965T>GCA366241324ARID1Bc.4581T>G (p.Ser1527Arg)
c.4650T>G (p.Ser1550Arg)
c.4869T>G (p.Ser1623Arg)
c.4620T>G (p.Ser1540Arg)
c.4332T>G (p.Ser1444Arg)
c.2898T>G (p.Ser966Arg)
c.2061T>G (p.Ser687Arg)
c.1692T>G (p.Ser564Arg)
n.3203T>G
n.660T>G
c.4740T>G (p.Ser1580Arg)
n.2737T>G
c.2108T>G
c.2022T>G
n.1406T>G
c.2082T>G (p.Ser694Arg)
c.2241T>G (p.Ser747Arg)
c.4371T>G (p.Ser1457Arg)
c.4491T>G (p.Ser1497Arg)
c.3570T>G (p.Ser1190Arg)
c.3390T>G (p.Ser1130Arg)
c.3150T>G (p.Ser1050Arg)
c.2769T>G (p.Ser923Arg)
c.1632T>G (p.Ser544Arg)
c.4701T>G (p.Ser1567Arg)
c.4602T>G (p.Ser1534Arg)
c.4572T>G (p.Ser1524Arg)
c.4542T>G (p.Ser1514Arg)
c.4413T>G (p.Ser1471Arg)
c.4392T>G (p.Ser1464Arg)
n.4687T>G
6g.157200966G>ACA366241325ARID1Bc.4582G>A (p.Glu1528Lys)
c.4651G>A (p.Glu1551Lys)
c.4870G>A (p.Glu1624Lys)
c.4621G>A (p.Glu1541Lys)
c.4333G>A (p.Glu1445Lys)
c.2899G>A (p.Glu967Lys)
c.2062G>A (p.Glu688Lys)
c.1693G>A (p.Glu565Lys)
n.3204G>A
n.661G>A
c.4741G>A (p.Glu1581Lys)
n.2738G>A
c.2109G>A
c.2023G>A
n.1407G>A
c.2083G>A (p.Glu695Lys)
c.2242G>A (p.Glu748Lys)
c.4372G>A (p.Glu1458Lys)
c.4492G>A (p.Glu1498Lys)
c.3571G>A (p.Glu1191Lys)
c.3391G>A (p.Glu1131Lys)
c.3151G>A (p.Glu1051Lys)
c.2770G>A (p.Glu924Lys)
c.1633G>A (p.Glu545Lys)
c.4702G>A (p.Glu1568Lys)
c.4603G>A (p.Glu1535Lys)
c.4573G>A (p.Glu1525Lys)
c.4543G>A (p.Glu1515Lys)
c.4414G>A (p.Glu1472Lys)
c.4393G>A (p.Glu1465Lys)
n.4688G>A
6g.157200966G>CCA366241326ARID1Bc.4582G>C (p.Glu1528Gln)
c.4651G>C (p.Glu1551Gln)
c.4870G>C (p.Glu1624Gln)
c.4621G>C (p.Glu1541Gln)
c.4333G>C (p.Glu1445Gln)
c.2899G>C (p.Glu967Gln)
c.2062G>C (p.Glu688Gln)
c.1693G>C (p.Glu565Gln)
n.3204G>C
n.661G>C
c.4741G>C (p.Glu1581Gln)
n.2738G>C
c.2109G>C
c.2023G>C
n.1407G>C
c.2083G>C (p.Glu695Gln)
c.2242G>C (p.Glu748Gln)
c.4372G>C (p.Glu1458Gln)
c.4492G>C (p.Glu1498Gln)
c.3571G>C (p.Glu1191Gln)
c.3391G>C (p.Glu1131Gln)
c.3151G>C (p.Glu1051Gln)
c.2770G>C (p.Glu924Gln)
c.1633G>C (p.Glu545Gln)
c.4702G>C (p.Glu1568Gln)
c.4603G>C (p.Glu1535Gln)
c.4573G>C (p.Glu1525Gln)
c.4543G>C (p.Glu1515Gln)
c.4414G>C (p.Glu1472Gln)
c.4393G>C (p.Glu1465Gln)
n.4688G>C
6g.157200966G=CA1675543174ARID1Bc.4582G= (p.Glu1528=)
c.4651G= (p.Glu1551=)
c.4870G= (p.Glu1624=)
c.4621G= (p.Glu1541=)
c.4333G= (p.Glu1445=)
c.2899G= (p.Glu967=)
c.2062G= (p.Glu688=)
c.1693G= (p.Glu565=)
n.3204G=
n.661G=
c.4741G= (p.Glu1581=)
n.2738G=
c.2109G=
c.2023G=
n.1407G=
c.2083G= (p.Glu695=)
c.2242G= (p.Glu748=)
c.4372G= (p.Glu1458=)
c.4492G= (p.Glu1498=)
c.3571G= (p.Glu1191=)
c.3391G= (p.Glu1131=)
c.3151G= (p.Glu1051=)
c.2770G= (p.Glu924=)
c.1633G= (p.Glu545=)
c.4702G= (p.Glu1568=)
c.4603G= (p.Glu1535=)
c.4573G= (p.Glu1525=)
c.4543G= (p.Glu1515=)
c.4414G= (p.Glu1472=)
c.4393G= (p.Glu1465=)
n.4688G=
6g.157200966G>TCA366241327ARID1Bc.4582G>T (p.Glu1528Ter)
c.4651G>T (p.Glu1551Ter)
c.4870G>T (p.Glu1624Ter)
c.4621G>T (p.Glu1541Ter)
c.4333G>T (p.Glu1445Ter)
c.2899G>T (p.Glu967Ter)
c.2062G>T (p.Glu688Ter)
c.1693G>T (p.Glu565Ter)
n.3204G>T
n.661G>T
c.4741G>T (p.Glu1581Ter)
n.2738G>T
c.2109G>T
c.2023G>T
n.1407G>T
c.2083G>T (p.Glu695Ter)
c.2242G>T (p.Glu748Ter)
c.4372G>T (p.Glu1458Ter)
c.4492G>T (p.Glu1498Ter)
c.3571G>T (p.Glu1191Ter)
c.3391G>T (p.Glu1131Ter)
c.3151G>T (p.Glu1051Ter)
c.2770G>T (p.Glu924Ter)
c.1633G>T (p.Glu545Ter)
c.4702G>T (p.Glu1568Ter)
c.4603G>T (p.Glu1535Ter)
c.4573G>T (p.Glu1525Ter)
c.4543G>T (p.Glu1515Ter)
c.4414G>T (p.Glu1472Ter)
c.4393G>T (p.Glu1465Ter)
n.4688G>T
dbSNP
6g.157200967A>CCA366241328ARID1Bc.4583A>C (p.Glu1528Ala)
c.4652A>C (p.Glu1551Ala)
c.4871A>C (p.Glu1624Ala)
c.4622A>C (p.Glu1541Ala)
c.4334A>C (p.Glu1445Ala)
c.2900A>C (p.Glu967Ala)
c.2063A>C (p.Glu688Ala)
c.1694A>C (p.Glu565Ala)
n.3205A>C
n.662A>C
c.4742A>C (p.Glu1581Ala)
n.2739A>C
c.2110A>C
c.2024A>C
n.1408A>C
c.2084A>C (p.Glu695Ala)
c.2243A>C (p.Glu748Ala)
c.4373A>C (p.Glu1458Ala)
c.4493A>C (p.Glu1498Ala)
c.3572A>C (p.Glu1191Ala)
c.3392A>C (p.Glu1131Ala)
c.3152A>C (p.Glu1051Ala)
c.2771A>C (p.Glu924Ala)
c.1634A>C (p.Glu545Ala)
c.4703A>C (p.Glu1568Ala)
c.4604A>C (p.Glu1535Ala)
c.4574A>C (p.Glu1525Ala)
c.4544A>C (p.Glu1515Ala)
c.4415A>C (p.Glu1472Ala)
c.4394A>C (p.Glu1465Ala)
n.4689A>C
6g.157200967A>GCA366241329ARID1Bc.4583A>G (p.Glu1528Gly)
c.4652A>G (p.Glu1551Gly)
c.4871A>G (p.Glu1624Gly)
c.4622A>G (p.Glu1541Gly)
c.4334A>G (p.Glu1445Gly)
c.2900A>G (p.Glu967Gly)
c.2063A>G (p.Glu688Gly)
c.1694A>G (p.Glu565Gly)
n.3205A>G
n.662A>G
c.4742A>G (p.Glu1581Gly)
n.2739A>G
c.2110A>G
c.2024A>G
n.1408A>G
c.2084A>G (p.Glu695Gly)
c.2243A>G (p.Glu748Gly)
c.4373A>G (p.Glu1458Gly)
c.4493A>G (p.Glu1498Gly)
c.3572A>G (p.Glu1191Gly)
c.3392A>G (p.Glu1131Gly)
c.3152A>G (p.Glu1051Gly)
c.2771A>G (p.Glu924Gly)
c.1634A>G (p.Glu545Gly)
c.4703A>G (p.Glu1568Gly)
c.4604A>G (p.Glu1535Gly)
c.4574A>G (p.Glu1525Gly)
c.4544A>G (p.Glu1515Gly)
c.4415A>G (p.Glu1472Gly)
c.4394A>G (p.Glu1465Gly)
n.4689A>G
dbSNP
6g.157200967A>TCA366241330ARID1Bc.4583A>T (p.Glu1528Val)
c.4652A>T (p.Glu1551Val)
c.4871A>T (p.Glu1624Val)
c.4622A>T (p.Glu1541Val)
c.4334A>T (p.Glu1445Val)
c.2900A>T (p.Glu967Val)
c.2063A>T (p.Glu688Val)
c.1694A>T (p.Glu565Val)
n.3205A>T
n.662A>T
c.4742A>T (p.Glu1581Val)
n.2739A>T
c.2110A>T
c.2024A>T
n.1408A>T
c.2084A>T (p.Glu695Val)
c.2243A>T (p.Glu748Val)
c.4373A>T (p.Glu1458Val)
c.4493A>T (p.Glu1498Val)
c.3572A>T (p.Glu1191Val)
c.3392A>T (p.Glu1131Val)
c.3152A>T (p.Glu1051Val)
c.2771A>T (p.Glu924Val)
c.1634A>T (p.Glu545Val)
c.4703A>T (p.Glu1568Val)
c.4604A>T (p.Glu1535Val)
c.4574A>T (p.Glu1525Val)
c.4544A>T (p.Glu1515Val)
c.4415A>T (p.Glu1472Val)
c.4394A>T (p.Glu1465Val)
n.4689A>T
6g.157200967_157200968delinsAGCA1675543175ARID1Bc.4583_4584delinsAG (p.Glu1528=)
c.4652_4653delinsAG (p.Glu1551=)
c.4871_4872delinsAG (p.Glu1624=)
c.4622_4623delinsAG (p.Glu1541=)
c.4334_4335delinsAG (p.Glu1445=)
c.2900_2901delinsAG (p.Glu967=)
c.2063_2064delinsAG (p.Glu688=)
c.1694_1695delinsAG (p.Glu565=)
n.3205_3206delinsAG
n.662_663delinsAG
c.4742_4743delinsAG (p.Glu1581=)
n.2739_2740delinsAG
c.2110_2111delinsAG
c.2024_2025delinsAG
n.1408_1409delinsAG
c.2084_2085delinsAG (p.Glu695=)
c.2243_2244delinsAG (p.Glu748=)
c.4373_4374delinsAG (p.Glu1458=)
c.4493_4494delinsAG (p.Glu1498=)
c.3572_3573delinsAG (p.Glu1191=)
c.3392_3393delinsAG (p.Glu1131=)
c.3152_3153delinsAG (p.Glu1051=)
c.2771_2772delinsAG (p.Glu924=)
c.1634_1635delinsAG (p.Glu545=)
c.4703_4704delinsAG (p.Glu1568=)
c.4604_4605delinsAG (p.Glu1535=)
c.4574_4575delinsAG (p.Glu1525=)
c.4544_4545delinsAG (p.Glu1515=)
c.4415_4416delinsAG (p.Glu1472=)
c.4394_4395delinsAG (p.Glu1465=)
n.4689_4690delinsAG
6g.157200968G>ACA452978074ARID1Bc.4584G>A (p.Glu1528=)
c.4653G>A (p.Glu1551=)
c.4872G>A (p.Glu1624=)
c.4623G>A (p.Glu1541=)
c.4335G>A (p.Glu1445=)
c.2901G>A (p.Glu967=)
c.2064G>A (p.Glu688=)
c.1695G>A (p.Glu565=)
n.3206G>A
n.663G>A
c.4743G>A (p.Glu1581=)
n.2740G>A
c.2111G>A
c.2025G>A
n.1409G>A
c.2085G>A (p.Glu695=)
c.2244G>A (p.Glu748=)
c.4374G>A (p.Glu1458=)
c.4494G>A (p.Glu1498=)
c.3573G>A (p.Glu1191=)
c.3393G>A (p.Glu1131=)
c.3153G>A (p.Glu1051=)
c.2772G>A (p.Glu924=)
c.1635G>A (p.Glu545=)
c.4704G>A (p.Glu1568=)
c.4605G>A (p.Glu1535=)
c.4575G>A (p.Glu1525=)
c.4545G>A (p.Glu1515=)
c.4416G>A (p.Glu1472=)
c.4395G>A (p.Glu1465=)
n.4690G>A
dbSNP gnomAD v3 gnomAD v4
6g.157200968G>CCA366241331ARID1Bc.4584G>C (p.Glu1528Asp)
c.4653G>C (p.Glu1551Asp)
c.4872G>C (p.Glu1624Asp)
c.4623G>C (p.Glu1541Asp)
c.4335G>C (p.Glu1445Asp)
c.2901G>C (p.Glu967Asp)
c.2064G>C (p.Glu688Asp)
c.1695G>C (p.Glu565Asp)
n.3206G>C
n.663G>C
c.4743G>C (p.Glu1581Asp)
n.2740G>C
c.2111G>C
c.2025G>C
n.1409G>C
c.2085G>C (p.Glu695Asp)
c.2244G>C (p.Glu748Asp)
c.4374G>C (p.Glu1458Asp)
c.4494G>C (p.Glu1498Asp)
c.3573G>C (p.Glu1191Asp)
c.3393G>C (p.Glu1131Asp)
c.3153G>C (p.Glu1051Asp)
c.2772G>C (p.Glu924Asp)
c.1635G>C (p.Glu545Asp)
c.4704G>C (p.Glu1568Asp)
c.4605G>C (p.Glu1535Asp)
c.4575G>C (p.Glu1525Asp)
c.4545G>C (p.Glu1515Asp)
c.4416G>C (p.Glu1472Asp)
c.4395G>C (p.Glu1465Asp)
n.4690G>C
6g.157200968G=CA1675543176ARID1Bc.4584G= (p.Glu1528=)
c.4653G= (p.Glu1551=)
c.4872G= (p.Glu1624=)
c.4623G= (p.Glu1541=)
c.4335G= (p.Glu1445=)
c.2901G= (p.Glu967=)
c.2064G= (p.Glu688=)
c.1695G= (p.Glu565=)
n.3206G=
n.663G=
c.4743G= (p.Glu1581=)
n.2740G=
c.2111G=
c.2025G=
n.1409G=
c.2085G= (p.Glu695=)
c.2244G= (p.Glu748=)
c.4374G= (p.Glu1458=)
c.4494G= (p.Glu1498=)
c.3573G= (p.Glu1191=)
c.3393G= (p.Glu1131=)
c.3153G= (p.Glu1051=)
c.2772G= (p.Glu924=)
c.1635G= (p.Glu545=)
c.4704G= (p.Glu1568=)
c.4605G= (p.Glu1535=)
c.4575G= (p.Glu1525=)
c.4545G= (p.Glu1515=)
c.4416G= (p.Glu1472=)
c.4395G= (p.Glu1465=)
n.4690G=
6g.157200968G>TCA366241332ARID1Bc.4584G>T (p.Glu1528Asp)
c.4653G>T (p.Glu1551Asp)
c.4872G>T (p.Glu1624Asp)
c.4623G>T (p.Glu1541Asp)
c.4335G>T (p.Glu1445Asp)
c.2901G>T (p.Glu967Asp)
c.2064G>T (p.Glu688Asp)
c.1695G>T (p.Glu565Asp)
n.3206G>T
n.663G>T
c.4743G>T (p.Glu1581Asp)
n.2740G>T
c.2111G>T
c.2025G>T
n.1409G>T
c.2085G>T (p.Glu695Asp)
c.2244G>T (p.Glu748Asp)
c.4374G>T (p.Glu1458Asp)
c.4494G>T (p.Glu1498Asp)
c.3573G>T (p.Glu1191Asp)
c.3393G>T (p.Glu1131Asp)
c.3153G>T (p.Glu1051Asp)
c.2772G>T (p.Glu924Asp)
c.1635G>T (p.Glu545Asp)
c.4704G>T (p.Glu1568Asp)
c.4605G>T (p.Glu1535Asp)
c.4575G>T (p.Glu1525Asp)
c.4545G>T (p.Glu1515Asp)
c.4416G>T (p.Glu1472Asp)
c.4395G>T (p.Glu1465Asp)
n.4690G>T
dbSNP
6g.157200971delCA151061ARID1Bc.4587del (p.Pro1530LeufsTer?)
c.4656del (p.Pro1553LeufsTer?)
c.4875del (p.Pro1626LeufsTer?)
c.4626del (p.Pro1543LeufsTer?)
c.4338del (p.Pro1447LeufsTer?)
c.2904del (p.Pro969LeufsTer?)
c.2067del (p.Pro690LeufsTer?)
c.1698del (p.Pro567LeufsTer?)
n.3209del
n.666del
c.4746del (p.Pro1583LeufsTer?)
n.2743del
c.2114del
c.2028del
n.1412del
c.2088del (p.Pro697LeufsTer?)
c.2247del (p.Pro750LeufsTer?)
c.4377del (p.Pro1460LeufsTer?)
c.4497del (p.Pro1500LeufsTer?)
c.3576del (p.Pro1193LeufsTer?)
c.3396del (p.Pro1133LeufsTer?)
c.3156del (p.Pro1053LeufsTer?)
c.2775del (p.Pro926LeufsTer?)
c.1638del (p.Pro547LeufsTer?)
c.4707del (p.Pro1570LeufsTer?)
c.4608del (p.Pro1537LeufsTer?)
c.4578del (p.Pro1527LeufsTer?)
c.4548del (p.Pro1517LeufsTer?)
c.4419del (p.Pro1474LeufsTer?)
c.4398del (p.Pro1467LeufsTer?)
n.4693del
ClinVar dbSNP
6g.157200969G>ACA366241333ARID1Bc.4585G>A (p.Gly1529Arg)
c.4654G>A (p.Gly1552Arg)
c.4873G>A (p.Gly1625Arg)
c.4624G>A (p.Gly1542Arg)
c.4336G>A (p.Gly1446Arg)
c.2902G>A (p.Gly968Arg)
c.2065G>A (p.Gly689Arg)
c.1696G>A (p.Gly566Arg)
n.3207G>A
n.664G>A
c.4744G>A (p.Gly1582Arg)
n.2741G>A
c.2112G>A
c.2026G>A
n.1410G>A
c.2086G>A (p.Gly696Arg)
c.2245G>A (p.Gly749Arg)
c.4375G>A (p.Gly1459Arg)
c.4495G>A (p.Gly1499Arg)
c.3574G>A (p.Gly1192Arg)
c.3394G>A (p.Gly1132Arg)
c.3154G>A (p.Gly1052Arg)
c.2773G>A (p.Gly925Arg)
c.1636G>A (p.Gly546Arg)
c.4705G>A (p.Gly1569Arg)
c.4606G>A (p.Gly1536Arg)
c.4576G>A (p.Gly1526Arg)
c.4546G>A (p.Gly1516Arg)
c.4417G>A (p.Gly1473Arg)
c.4396G>A (p.Gly1466Arg)
n.4691G>A
dbSNP
6g.157200969G>CCA366241334ARID1Bc.4585G>C (p.Gly1529Arg)
c.4654G>C (p.Gly1552Arg)
c.4873G>C (p.Gly1625Arg)
c.4624G>C (p.Gly1542Arg)
c.4336G>C (p.Gly1446Arg)
c.2902G>C (p.Gly968Arg)
c.2065G>C (p.Gly689Arg)
c.1696G>C (p.Gly566Arg)
n.3207G>C
n.664G>C
c.4744G>C (p.Gly1582Arg)
n.2741G>C
c.2112G>C
c.2026G>C
n.1410G>C
c.2086G>C (p.Gly696Arg)
c.2245G>C (p.Gly749Arg)
c.4375G>C (p.Gly1459Arg)
c.4495G>C (p.Gly1499Arg)
c.3574G>C (p.Gly1192Arg)
c.3394G>C (p.Gly1132Arg)
c.3154G>C (p.Gly1052Arg)
c.2773G>C (p.Gly925Arg)
c.1636G>C (p.Gly546Arg)
c.4705G>C (p.Gly1569Arg)
c.4606G>C (p.Gly1536Arg)
c.4576G>C (p.Gly1526Arg)
c.4546G>C (p.Gly1516Arg)
c.4417G>C (p.Gly1473Arg)
c.4396G>C (p.Gly1466Arg)
n.4691G>C
6g.157200969G=CA1675543177ARID1Bc.4585G= (p.Gly1529=)
c.4654G= (p.Gly1552=)
c.4873G= (p.Gly1625=)
c.4624G= (p.Gly1542=)
c.4336G= (p.Gly1446=)
c.2902G= (p.Gly968=)
c.2065G= (p.Gly689=)
c.1696G= (p.Gly566=)
n.3207G=
n.664G=
c.4744G= (p.Gly1582=)
n.2741G=
c.2112G=
c.2026G=
n.1410G=
c.2086G= (p.Gly696=)
c.2245G= (p.Gly749=)
c.4375G= (p.Gly1459=)
c.4495G= (p.Gly1499=)
c.3574G= (p.Gly1192=)
c.3394G= (p.Gly1132=)
c.3154G= (p.Gly1052=)
c.2773G= (p.Gly925=)
c.1636G= (p.Gly546=)
c.4705G= (p.Gly1569=)
c.4606G= (p.Gly1536=)
c.4576G= (p.Gly1526=)
c.4546G= (p.Gly1516=)
c.4417G= (p.Gly1473=)
c.4396G= (p.Gly1466=)
n.4691G=
6g.157200969G>TCA366241335ARID1Bc.4585G>T (p.Gly1529Trp)
c.4654G>T (p.Gly1552Trp)
c.4873G>T (p.Gly1625Trp)
c.4624G>T (p.Gly1542Trp)
c.4336G>T (p.Gly1446Trp)
c.2902G>T (p.Gly968Trp)
c.2065G>T (p.Gly689Trp)
c.1696G>T (p.Gly566Trp)
n.3207G>T
n.664G>T
c.4744G>T (p.Gly1582Trp)
n.2741G>T
c.2112G>T
c.2026G>T
n.1410G>T
c.2086G>T (p.Gly696Trp)
c.2245G>T (p.Gly749Trp)
c.4375G>T (p.Gly1459Trp)
c.4495G>T (p.Gly1499Trp)
c.3574G>T (p.Gly1192Trp)
c.3394G>T (p.Gly1132Trp)
c.3154G>T (p.Gly1052Trp)
c.2773G>T (p.Gly925Trp)
c.1636G>T (p.Gly546Trp)
c.4705G>T (p.Gly1569Trp)
c.4606G>T (p.Gly1536Trp)
c.4576G>T (p.Gly1526Trp)
c.4546G>T (p.Gly1516Trp)
c.4417G>T (p.Gly1473Trp)
c.4396G>T (p.Gly1466Trp)
n.4691G>T
6g.157200970G>ACA366241338ARID1Bc.4586G>A (p.Gly1529Glu)
c.4655G>A (p.Gly1552Glu)
c.4874G>A (p.Gly1625Glu)
c.4625G>A (p.Gly1542Glu)
c.4337G>A (p.Gly1446Glu)
c.2903G>A (p.Gly968Glu)
c.2066G>A (p.Gly689Glu)
c.1697G>A (p.Gly566Glu)
n.3208G>A
n.665G>A
c.4745G>A (p.Gly1582Glu)
n.2742G>A
c.2113G>A
c.2027G>A
n.1411G>A
c.2087G>A (p.Gly696Glu)
c.2246G>A (p.Gly749Glu)
c.4376G>A (p.Gly1459Glu)
c.4496G>A (p.Gly1499Glu)
c.3575G>A (p.Gly1192Glu)
c.3395G>A (p.Gly1132Glu)
c.3155G>A (p.Gly1052Glu)
c.2774G>A (p.Gly925Glu)
c.1637G>A (p.Gly546Glu)
c.4706G>A (p.Gly1569Glu)
c.4607G>A (p.Gly1536Glu)
c.4577G>A (p.Gly1526Glu)
c.4547G>A (p.Gly1516Glu)
c.4418G>A (p.Gly1473Glu)
c.4397G>A (p.Gly1466Glu)
n.4692G>A
dbSNP
6g.157200970G>CCA366241336ARID1Bc.4586G>C (p.Gly1529Ala)
c.4655G>C (p.Gly1552Ala)
c.4874G>C (p.Gly1625Ala)
c.4625G>C (p.Gly1542Ala)
c.4337G>C (p.Gly1446Ala)
c.2903G>C (p.Gly968Ala)
c.2066G>C (p.Gly689Ala)
c.1697G>C (p.Gly566Ala)
n.3208G>C
n.665G>C
c.4745G>C (p.Gly1582Ala)
n.2742G>C
c.2113G>C
c.2027G>C
n.1411G>C
c.2087G>C (p.Gly696Ala)
c.2246G>C (p.Gly749Ala)
c.4376G>C (p.Gly1459Ala)
c.4496G>C (p.Gly1499Ala)
c.3575G>C (p.Gly1192Ala)
c.3395G>C (p.Gly1132Ala)
c.3155G>C (p.Gly1052Ala)
c.2774G>C (p.Gly925Ala)
c.1637G>C (p.Gly546Ala)
c.4706G>C (p.Gly1569Ala)
c.4607G>C (p.Gly1536Ala)
c.4577G>C (p.Gly1526Ala)
c.4547G>C (p.Gly1516Ala)
c.4418G>C (p.Gly1473Ala)
c.4397G>C (p.Gly1466Ala)
n.4692G>C
6g.157200970G>TCA366241337ARID1Bc.4586G>T (p.Gly1529Val)
c.4655G>T (p.Gly1552Val)
c.4874G>T (p.Gly1625Val)
c.4625G>T (p.Gly1542Val)
c.4337G>T (p.Gly1446Val)
c.2903G>T (p.Gly968Val)
c.2066G>T (p.Gly689Val)
c.1697G>T (p.Gly566Val)
n.3208G>T
n.665G>T
c.4745G>T (p.Gly1582Val)
n.2742G>T
c.2113G>T
c.2027G>T
n.1411G>T
c.2087G>T (p.Gly696Val)
c.2246G>T (p.Gly749Val)
c.4376G>T (p.Gly1459Val)
c.4496G>T (p.Gly1499Val)
c.3575G>T (p.Gly1192Val)
c.3395G>T (p.Gly1132Val)
c.3155G>T (p.Gly1052Val)
c.2774G>T (p.Gly925Val)
c.1637G>T (p.Gly546Val)
c.4706G>T (p.Gly1569Val)
c.4607G>T (p.Gly1536Val)
c.4577G>T (p.Gly1526Val)
c.4547G>T (p.Gly1516Val)
c.4418G>T (p.Gly1473Val)
c.4397G>T (p.Gly1466Val)
n.4692G>T
6g.157200971G>ACA452978082ARID1Bc.4587G>A (p.Gly1529=)
c.4656G>A (p.Gly1552=)
c.4875G>A (p.Gly1625=)
c.4626G>A (p.Gly1542=)
c.4338G>A (p.Gly1446=)
c.2904G>A (p.Gly968=)
c.2067G>A (p.Gly689=)
c.1698G>A (p.Gly566=)
n.3209G>A
n.666G>A
c.4746G>A (p.Gly1582=)
n.2743G>A
c.2114G>A
c.2028G>A
n.1412G>A
c.2088G>A (p.Gly696=)
c.2247G>A (p.Gly749=)
c.4377G>A (p.Gly1459=)
c.4497G>A (p.Gly1499=)
c.3576G>A (p.Gly1192=)
c.3396G>A (p.Gly1132=)
c.3156G>A (p.Gly1052=)
c.2775G>A (p.Gly925=)
c.1638G>A (p.Gly546=)
c.4707G>A (p.Gly1569=)
c.4608G>A (p.Gly1536=)
c.4578G>A (p.Gly1526=)
c.4548G>A (p.Gly1516=)
c.4419G>A (p.Gly1473=)
c.4398G>A (p.Gly1466=)
n.4693G>A
6g.157200971G>CCA4067699ARID1Bc.4587G>C (p.Gly1529=)
c.4656G>C (p.Gly1552=)
c.4875G>C (p.Gly1625=)
c.4626G>C (p.Gly1542=)
c.4338G>C (p.Gly1446=)
c.2904G>C (p.Gly968=)
c.2067G>C (p.Gly689=)
c.1698G>C (p.Gly566=)
n.3209G>C
n.666G>C
c.4746G>C (p.Gly1582=)
n.2743G>C
c.2114G>C
c.2028G>C
n.1412G>C
c.2088G>C (p.Gly696=)
c.2247G>C (p.Gly749=)
c.4377G>C (p.Gly1459=)
c.4497G>C (p.Gly1499=)
c.3576G>C (p.Gly1192=)
c.3396G>C (p.Gly1132=)
c.3156G>C (p.Gly1052=)
c.2775G>C (p.Gly925=)
c.1638G>C (p.Gly546=)
c.4707G>C (p.Gly1569=)
c.4608G>C (p.Gly1536=)
c.4578G>C (p.Gly1526=)
c.4548G>C (p.Gly1516=)
c.4419G>C (p.Gly1473=)
c.4398G>C (p.Gly1466=)
n.4693G>C
dbSNP ExAC gnomAD v2 gnomAD v4
6g.157200971G=CA1675522790ARID1Bc.4587G= (p.Gly1529=)
c.4656G= (p.Gly1552=)
c.4875G= (p.Gly1625=)
c.4626G= (p.Gly1542=)
c.4338G= (p.Gly1446=)
c.2904G= (p.Gly968=)
c.2067G= (p.Gly689=)
c.1698G= (p.Gly566=)
n.3209G=
n.666G=
c.4746G= (p.Gly1582=)
n.2743G=
c.2114G=
c.2028G=
n.1412G=
c.2088G= (p.Gly696=)
c.2247G= (p.Gly749=)
c.4377G= (p.Gly1459=)
c.4497G= (p.Gly1499=)
c.3576G= (p.Gly1192=)
c.3396G= (p.Gly1132=)
c.3156G= (p.Gly1052=)
c.2775G= (p.Gly925=)
c.1638G= (p.Gly546=)
c.4707G= (p.Gly1569=)
c.4608G= (p.Gly1536=)
c.4578G= (p.Gly1526=)
c.4548G= (p.Gly1516=)
c.4419G= (p.Gly1473=)
c.4398G= (p.Gly1466=)
n.4693G=
6g.157200971G>TCA452978083ARID1Bc.4587G>T (p.Gly1529=)
c.4656G>T (p.Gly1552=)
c.4875G>T (p.Gly1625=)
c.4626G>T (p.Gly1542=)
c.4338G>T (p.Gly1446=)
c.2904G>T (p.Gly968=)
c.2067G>T (p.Gly689=)
c.1698G>T (p.Gly566=)
n.3209G>T
n.666G>T
c.4746G>T (p.Gly1582=)
n.2743G>T
c.2114G>T
c.2028G>T
n.1412G>T
c.2088G>T (p.Gly696=)
c.2247G>T (p.Gly749=)
c.4377G>T (p.Gly1459=)
c.4497G>T (p.Gly1499=)
c.3576G>T (p.Gly1192=)
c.3396G>T (p.Gly1132=)
c.3156G>T (p.Gly1052=)
c.2775G>T (p.Gly925=)
c.1638G>T (p.Gly546=)
c.4707G>T (p.Gly1569=)
c.4608G>T (p.Gly1536=)
c.4578G>T (p.Gly1526=)
c.4548G>T (p.Gly1516=)
c.4419G>T (p.Gly1473=)
c.4398G>T (p.Gly1466=)
n.4693G>T
dbSNP gnomAD v3 gnomAD v4
6g.157200972C>ACA366241340ARID1Bc.4588C>A (p.Pro1530Thr)
c.4657C>A (p.Pro1553Thr)
c.4876C>A (p.Pro1626Thr)
c.4627C>A (p.Pro1543Thr)
c.4339C>A (p.Pro1447Thr)
c.2905C>A (p.Pro969Thr)
c.2068C>A (p.Pro690Thr)
c.1699C>A (p.Pro567Thr)
n.3210C>A
n.667C>A
c.4747C>A (p.Pro1583Thr)
n.2744C>A
c.2115C>A
c.2029C>A
n.1413C>A
c.2089C>A (p.Pro697Thr)
c.2248C>A (p.Pro750Thr)
c.4378C>A (p.Pro1460Thr)
c.4498C>A (p.Pro1500Thr)
c.3577C>A (p.Pro1193Thr)
c.3397C>A (p.Pro1133Thr)
c.3157C>A (p.Pro1053Thr)
c.2776C>A (p.Pro926Thr)
c.1639C>A (p.Pro547Thr)
c.4708C>A (p.Pro1570Thr)
c.4609C>A (p.Pro1537Thr)
c.4579C>A (p.Pro1527Thr)
c.4549C>A (p.Pro1517Thr)
c.4420C>A (p.Pro1474Thr)
c.4399C>A (p.Pro1467Thr)
n.4694C>A
dbSNP
6g.157200972C>GCA366241339ARID1Bc.4588C>G (p.Pro1530Ala)
c.4657C>G (p.Pro1553Ala)
c.4876C>G (p.Pro1626Ala)
c.4627C>G (p.Pro1543Ala)
c.4339C>G (p.Pro1447Ala)
c.2905C>G (p.Pro969Ala)
c.2068C>G (p.Pro690Ala)
c.1699C>G (p.Pro567Ala)
n.3210C>G
n.667C>G
c.4747C>G (p.Pro1583Ala)
n.2744C>G
c.2115C>G
c.2029C>G
n.1413C>G
c.2089C>G (p.Pro697Ala)
c.2248C>G (p.Pro750Ala)
c.4378C>G (p.Pro1460Ala)
c.4498C>G (p.Pro1500Ala)
c.3577C>G (p.Pro1193Ala)
c.3397C>G (p.Pro1133Ala)
c.3157C>G (p.Pro1053Ala)
c.2776C>G (p.Pro926Ala)
c.1639C>G (p.Pro547Ala)
c.4708C>G (p.Pro1570Ala)
c.4609C>G (p.Pro1537Ala)
c.4579C>G (p.Pro1527Ala)
c.4549C>G (p.Pro1517Ala)
c.4420C>G (p.Pro1474Ala)
c.4399C>G (p.Pro1467Ala)
n.4694C>G
dbSNP
6g.157200972C>TCA366241341ARID1Bc.4588C>T (p.Pro1530Ser)
c.4657C>T (p.Pro1553Ser)
c.4876C>T (p.Pro1626Ser)
c.4627C>T (p.Pro1543Ser)
c.4339C>T (p.Pro1447Ser)
c.2905C>T (p.Pro969Ser)
c.2068C>T (p.Pro690Ser)
c.1699C>T (p.Pro567Ser)
n.3210C>T
n.667C>T
c.4747C>T (p.Pro1583Ser)
n.2744C>T
c.2115C>T
c.2029C>T
n.1413C>T
c.2089C>T (p.Pro697Ser)
c.2248C>T (p.Pro750Ser)
c.4378C>T (p.Pro1460Ser)
c.4498C>T (p.Pro1500Ser)
c.3577C>T (p.Pro1193Ser)
c.3397C>T (p.Pro1133Ser)
c.3157C>T (p.Pro1053Ser)
c.2776C>T (p.Pro926Ser)
c.1639C>T (p.Pro547Ser)
c.4708C>T (p.Pro1570Ser)
c.4609C>T (p.Pro1537Ser)
c.4579C>T (p.Pro1527Ser)
c.4549C>T (p.Pro1517Ser)
c.4420C>T (p.Pro1474Ser)
c.4399C>T (p.Pro1467Ser)
n.4694C>T
6g.157200973C>ACA366241342ARID1Bc.4589C>A (p.Pro1530His)
c.4658C>A (p.Pro1553His)
c.4877C>A (p.Pro1626His)
c.4628C>A (p.Pro1543His)
c.4340C>A (p.Pro1447His)
c.2906C>A (p.Pro969His)
c.2069C>A (p.Pro690His)
c.1700C>A (p.Pro567His)
n.3211C>A
n.668C>A
c.4748C>A (p.Pro1583His)
n.2745C>A
c.2116C>A
c.2030C>A
n.1414C>A
c.2090C>A (p.Pro697His)
c.2249C>A (p.Pro750His)
c.4379C>A (p.Pro1460His)
c.4499C>A (p.Pro1500His)
c.3578C>A (p.Pro1193His)
c.3398C>A (p.Pro1133His)
c.3158C>A (p.Pro1053His)
c.2777C>A (p.Pro926His)
c.1640C>A (p.Pro547His)
c.4709C>A (p.Pro1570His)
c.4610C>A (p.Pro1537His)
c.4580C>A (p.Pro1527His)
c.4550C>A (p.Pro1517His)
c.4421C>A (p.Pro1474His)
c.4400C>A (p.Pro1467His)
n.4695C>A
6g.157200973C>GCA366241344ARID1Bc.4589C>G (p.Pro1530Arg)
c.4658C>G (p.Pro1553Arg)
c.4877C>G (p.Pro1626Arg)
c.4628C>G (p.Pro1543Arg)
c.4340C>G (p.Pro1447Arg)
c.2906C>G (p.Pro969Arg)
c.2069C>G (p.Pro690Arg)
c.1700C>G (p.Pro567Arg)
n.3211C>G
n.668C>G
c.4748C>G (p.Pro1583Arg)
n.2745C>G
c.2116C>G
c.2030C>G
n.1414C>G
c.2090C>G (p.Pro697Arg)
c.2249C>G (p.Pro750Arg)
c.4379C>G (p.Pro1460Arg)
c.4499C>G (p.Pro1500Arg)
c.3578C>G (p.Pro1193Arg)
c.3398C>G (p.Pro1133Arg)
c.3158C>G (p.Pro1053Arg)
c.2777C>G (p.Pro926Arg)
c.1640C>G (p.Pro547Arg)
c.4709C>G (p.Pro1570Arg)
c.4610C>G (p.Pro1537Arg)
c.4580C>G (p.Pro1527Arg)
c.4550C>G (p.Pro1517Arg)
c.4421C>G (p.Pro1474Arg)
c.4400C>G (p.Pro1467Arg)
n.4695C>G
6g.157200973C>TCA366241343ARID1Bc.4589C>T (p.Pro1530Leu)
c.4658C>T (p.Pro1553Leu)
c.4877C>T (p.Pro1626Leu)
c.4628C>T (p.Pro1543Leu)
c.4340C>T (p.Pro1447Leu)
c.2906C>T (p.Pro969Leu)
c.2069C>T (p.Pro690Leu)
c.1700C>T (p.Pro567Leu)
n.3211C>T
n.668C>T
c.4748C>T (p.Pro1583Leu)
n.2745C>T
c.2116C>T
c.2030C>T
n.1414C>T
c.2090C>T (p.Pro697Leu)
c.2249C>T (p.Pro750Leu)
c.4379C>T (p.Pro1460Leu)
c.4499C>T (p.Pro1500Leu)
c.3578C>T (p.Pro1193Leu)
c.3398C>T (p.Pro1133Leu)
c.3158C>T (p.Pro1053Leu)
c.2777C>T (p.Pro926Leu)
c.1640C>T (p.Pro547Leu)
c.4709C>T (p.Pro1570Leu)
c.4610C>T (p.Pro1537Leu)
c.4580C>T (p.Pro1527Leu)
c.4550C>T (p.Pro1517Leu)
c.4421C>T (p.Pro1474Leu)
c.4400C>T (p.Pro1467Leu)
n.4695C>T
gnomAD v4
6g.157200974T>ACA452978270ARID1Bc.4590T>A (p.Pro1530=)
c.4659T>A (p.Pro1553=)
c.4878T>A (p.Pro1626=)
c.4629T>A (p.Pro1543=)
c.4341T>A (p.Pro1447=)
c.2907T>A (p.Pro969=)
c.2070T>A (p.Pro690=)
c.1701T>A (p.Pro567=)
n.3212T>A
n.669T>A
c.4749T>A (p.Pro1583=)
n.2746T>A
c.2117T>A
c.2031T>A
n.1415T>A
c.2091T>A (p.Pro697=)
c.2250T>A (p.Pro750=)
c.4380T>A (p.Pro1460=)
c.4500T>A (p.Pro1500=)
c.3579T>A (p.Pro1193=)
c.3399T>A (p.Pro1133=)
c.3159T>A (p.Pro1053=)
c.2778T>A (p.Pro926=)
c.1641T>A (p.Pro547=)
c.4710T>A (p.Pro1570=)
c.4611T>A (p.Pro1537=)
c.4581T>A (p.Pro1527=)
c.4551T>A (p.Pro1517=)
c.4422T>A (p.Pro1474=)
c.4401T>A (p.Pro1467=)
n.4696T>A
dbSNP
6g.157200974T>CCA452978271ARID1Bc.4590T>C (p.Pro1530=)
c.4659T>C (p.Pro1553=)
c.4878T>C (p.Pro1626=)
c.4629T>C (p.Pro1543=)
c.4341T>C (p.Pro1447=)
c.2907T>C (p.Pro969=)
c.2070T>C (p.Pro690=)
c.1701T>C (p.Pro567=)
n.3212T>C
n.669T>C
c.4749T>C (p.Pro1583=)
n.2746T>C
c.2117T>C
c.2031T>C
n.1415T>C
c.2091T>C (p.Pro697=)
c.2250T>C (p.Pro750=)
c.4380T>C (p.Pro1460=)
c.4500T>C (p.Pro1500=)
c.3579T>C (p.Pro1193=)
c.3399T>C (p.Pro1133=)
c.3159T>C (p.Pro1053=)
c.2778T>C (p.Pro926=)
c.1641T>C (p.Pro547=)
c.4710T>C (p.Pro1570=)
c.4611T>C (p.Pro1537=)
c.4581T>C (p.Pro1527=)
c.4551T>C (p.Pro1517=)
c.4422T>C (p.Pro1474=)
c.4401T>C (p.Pro1467=)
n.4696T>C
dbSNP
6g.157200974T>GCA452978272ARID1Bc.4590T>G (p.Pro1530=)
c.4659T>G (p.Pro1553=)
c.4878T>G (p.Pro1626=)
c.4629T>G (p.Pro1543=)
c.4341T>G (p.Pro1447=)
c.2907T>G (p.Pro969=)
c.2070T>G (p.Pro690=)
c.1701T>G (p.Pro567=)
n.3212T>G
n.669T>G
c.4749T>G (p.Pro1583=)
n.2746T>G
c.2117T>G
c.2031T>G
n.1415T>G
c.2091T>G (p.Pro697=)
c.2250T>G (p.Pro750=)
c.4380T>G (p.Pro1460=)
c.4500T>G (p.Pro1500=)
c.3579T>G (p.Pro1193=)
c.3399T>G (p.Pro1133=)
c.3159T>G (p.Pro1053=)
c.2778T>G (p.Pro926=)
c.1641T>G (p.Pro547=)
c.4710T>G (p.Pro1570=)
c.4611T>G (p.Pro1537=)
c.4581T>G (p.Pro1527=)
c.4551T>G (p.Pro1517=)
c.4422T>G (p.Pro1474=)
c.4401T>G (p.Pro1467=)
n.4696T>G
6g.157200975C>ACA366241345ARID1Bc.4591C>A (p.Gln1531Lys)
c.4660C>A (p.Gln1554Lys)
c.4879C>A (p.Gln1627Lys)
c.4630C>A (p.Gln1544Lys)
c.4342C>A (p.Gln1448Lys)
c.2908C>A (p.Gln970Lys)
c.2071C>A (p.Gln691Lys)
c.1702C>A (p.Gln568Lys)
n.3213C>A
n.670C>A
c.4750C>A (p.Gln1584Lys)
n.2747C>A
c.2118C>A
c.2032C>A
n.1416C>A
c.2092C>A (p.Gln698Lys)
c.2251C>A (p.Gln751Lys)
c.4381C>A (p.Gln1461Lys)
c.4501C>A (p.Gln1501Lys)
c.3580C>A (p.Gln1194Lys)
c.3400C>A (p.Gln1134Lys)
c.3160C>A (p.Gln1054Lys)
c.2779C>A (p.Gln927Lys)
c.1642C>A (p.Gln548Lys)
c.4711C>A (p.Gln1571Lys)
c.4612C>A (p.Gln1538Lys)
c.4582C>A (p.Gln1528Lys)
c.4552C>A (p.Gln1518Lys)
c.4423C>A (p.Gln1475Lys)
c.4402C>A (p.Gln1468Lys)
n.4697C>A
6g.157200975C=CA1675522791ARID1Bc.4591C= (p.Gln1531=)
c.4660C= (p.Gln1554=)
c.4879C= (p.Gln1627=)
c.4630C= (p.Gln1544=)
c.4342C= (p.Gln1448=)
c.2908C= (p.Gln970=)
c.2071C= (p.Gln691=)
c.1702C= (p.Gln568=)
n.3213C=
n.670C=
c.4750C= (p.Gln1584=)
n.2747C=
c.2118C=
c.2032C=
n.1416C=
c.2092C= (p.Gln698=)
c.2251C= (p.Gln751=)
c.4381C= (p.Gln1461=)
c.4501C= (p.Gln1501=)
c.3580C= (p.Gln1194=)
c.3400C= (p.Gln1134=)
c.3160C= (p.Gln1054=)
c.2779C= (p.Gln927=)
c.1642C= (p.Gln548=)
c.4711C= (p.Gln1571=)
c.4612C= (p.Gln1538=)
c.4582C= (p.Gln1528=)
c.4552C= (p.Gln1518=)
c.4423C= (p.Gln1475=)
c.4402C= (p.Gln1468=)
n.4697C=
6g.157200975C>GCA366241346ARID1Bc.4591C>G (p.Gln1531Glu)
c.4660C>G (p.Gln1554Glu)
c.4879C>G (p.Gln1627Glu)
c.4630C>G (p.Gln1544Glu)
c.4342C>G (p.Gln1448Glu)
c.2908C>G (p.Gln970Glu)
c.2071C>G (p.Gln691Glu)
c.1702C>G (p.Gln568Glu)
n.3213C>G
n.670C>G
c.4750C>G (p.Gln1584Glu)
n.2747C>G
c.2118C>G
c.2032C>G
n.1416C>G
c.2092C>G (p.Gln698Glu)
c.2251C>G (p.Gln751Glu)
c.4381C>G (p.Gln1461Glu)
c.4501C>G (p.Gln1501Glu)
c.3580C>G (p.Gln1194Glu)
c.3400C>G (p.Gln1134Glu)
c.3160C>G (p.Gln1054Glu)
c.2779C>G (p.Gln927Glu)
c.1642C>G (p.Gln548Glu)
c.4711C>G (p.Gln1571Glu)
c.4612C>G (p.Gln1538Glu)
c.4582C>G (p.Gln1528Glu)
c.4552C>G (p.Gln1518Glu)
c.4423C>G (p.Gln1475Glu)
c.4402C>G (p.Gln1468Glu)
n.4697C>G
6g.157200975C>TCA366241347ARID1Bc.4591C>T (p.Gln1531Ter)
c.4660C>T (p.Gln1554Ter)
c.4879C>T (p.Gln1627Ter)
c.4630C>T (p.Gln1544Ter)
c.4342C>T (p.Gln1448Ter)
c.2908C>T (p.Gln970Ter)
c.2071C>T (p.Gln691Ter)
c.1702C>T (p.Gln568Ter)
n.3213C>T
n.670C>T
c.4750C>T (p.Gln1584Ter)
n.2747C>T
c.2118C>T
c.2032C>T
n.1416C>T
c.2092C>T (p.Gln698Ter)
c.2251C>T (p.Gln751Ter)
c.4381C>T (p.Gln1461Ter)
c.4501C>T (p.Gln1501Ter)
c.3580C>T (p.Gln1194Ter)
c.3400C>T (p.Gln1134Ter)
c.3160C>T (p.Gln1054Ter)
c.2779C>T (p.Gln927Ter)
c.1642C>T (p.Gln548Ter)
c.4711C>T (p.Gln1571Ter)
c.4612C>T (p.Gln1538Ter)
c.4582C>T (p.Gln1528Ter)
c.4552C>T (p.Gln1518Ter)
c.4423C>T (p.Gln1475Ter)
c.4402C>T (p.Gln1468Ter)
n.4697C>T
dbSNP
6g.157200976A=CA1675522792ARID1Bc.4592A= (p.Gln1531=)
c.4661A= (p.Gln1554=)
c.4880A= (p.Gln1627=)
c.4631A= (p.Gln1544=)
c.4343A= (p.Gln1448=)
c.2909A= (p.Gln970=)
c.2072A= (p.Gln691=)
c.1703A= (p.Gln568=)
n.3214A=
n.671A=
c.4751A= (p.Gln1584=)
n.2748A=
c.2119A=
c.2033A=
n.1417A=
c.2093A= (p.Gln698=)
c.2252A= (p.Gln751=)
c.4382A= (p.Gln1461=)
c.4502A= (p.Gln1501=)
c.3581A= (p.Gln1194=)
c.3401A= (p.Gln1134=)
c.3161A= (p.Gln1054=)
c.2780A= (p.Gln927=)
c.1643A= (p.Gln548=)
c.4712A= (p.Gln1571=)
c.4613A= (p.Gln1538=)
c.4583A= (p.Gln1528=)
c.4553A= (p.Gln1518=)
c.4424A= (p.Gln1475=)
c.4403A= (p.Gln1468=)
n.4698A=
6g.157200976A>CCA366241348ARID1Bc.4592A>C (p.Gln1531Pro)
c.4661A>C (p.Gln1554Pro)
c.4880A>C (p.Gln1627Pro)
c.4631A>C (p.Gln1544Pro)
c.4343A>C (p.Gln1448Pro)
c.2909A>C (p.Gln970Pro)
c.2072A>C (p.Gln691Pro)
c.1703A>C (p.Gln568Pro)
n.3214A>C
n.671A>C
c.4751A>C (p.Gln1584Pro)
n.2748A>C
c.2119A>C
c.2033A>C
n.1417A>C
c.2093A>C (p.Gln698Pro)
c.2252A>C (p.Gln751Pro)
c.4382A>C (p.Gln1461Pro)
c.4502A>C (p.Gln1501Pro)
c.3581A>C (p.Gln1194Pro)
c.3401A>C (p.Gln1134Pro)
c.3161A>C (p.Gln1054Pro)
c.2780A>C (p.Gln927Pro)
c.1643A>C (p.Gln548Pro)
c.4712A>C (p.Gln1571Pro)
c.4613A>C (p.Gln1538Pro)
c.4583A>C (p.Gln1528Pro)
c.4553A>C (p.Gln1518Pro)
c.4424A>C (p.Gln1475Pro)
c.4403A>C (p.Gln1468Pro)
n.4698A>C
6g.157200976A>GCA366241349ARID1Bc.4592A>G (p.Gln1531Arg)
c.4661A>G (p.Gln1554Arg)
c.4880A>G (p.Gln1627Arg)
c.4631A>G (p.Gln1544Arg)
c.4343A>G (p.Gln1448Arg)
c.2909A>G (p.Gln970Arg)
c.2072A>G (p.Gln691Arg)
c.1703A>G (p.Gln568Arg)
n.3214A>G
n.671A>G
c.4751A>G (p.Gln1584Arg)
n.2748A>G
c.2119A>G
c.2033A>G
n.1417A>G
c.2093A>G (p.Gln698Arg)
c.2252A>G (p.Gln751Arg)
c.4382A>G (p.Gln1461Arg)
c.4502A>G (p.Gln1501Arg)
c.3581A>G (p.Gln1194Arg)
c.3401A>G (p.Gln1134Arg)
c.3161A>G (p.Gln1054Arg)
c.2780A>G (p.Gln927Arg)
c.1643A>G (p.Gln548Arg)
c.4712A>G (p.Gln1571Arg)
c.4613A>G (p.Gln1538Arg)
c.4583A>G (p.Gln1528Arg)
c.4553A>G (p.Gln1518Arg)
c.4424A>G (p.Gln1475Arg)
c.4403A>G (p.Gln1468Arg)
n.4698A>G
dbSNP
6g.157200976A>TCA366241350ARID1Bc.4592A>T (p.Gln1531Leu)
c.4661A>T (p.Gln1554Leu)
c.4880A>T (p.Gln1627Leu)
c.4631A>T (p.Gln1544Leu)
c.4343A>T (p.Gln1448Leu)
c.2909A>T (p.Gln970Leu)
c.2072A>T (p.Gln691Leu)
c.1703A>T (p.Gln568Leu)
n.3214A>T
n.671A>T
c.4751A>T (p.Gln1584Leu)
n.2748A>T
c.2119A>T
c.2033A>T
n.1417A>T
c.2093A>T (p.Gln698Leu)
c.2252A>T (p.Gln751Leu)
c.4382A>T (p.Gln1461Leu)
c.4502A>T (p.Gln1501Leu)
c.3581A>T (p.Gln1194Leu)
c.3401A>T (p.Gln1134Leu)
c.3161A>T (p.Gln1054Leu)
c.2780A>T (p.Gln927Leu)
c.1643A>T (p.Gln548Leu)
c.4712A>T (p.Gln1571Leu)
c.4613A>T (p.Gln1538Leu)
c.4583A>T (p.Gln1528Leu)
c.4553A>T (p.Gln1518Leu)
c.4424A>T (p.Gln1475Leu)
c.4403A>T (p.Gln1468Leu)
n.4698A>T
6g.157200977G>ACA4067700ARID1Bc.4593G>A (p.Gln1531=)
c.4662G>A (p.Gln1554=)
c.4881G>A (p.Gln1627=)
c.4632G>A (p.Gln1544=)
c.4344G>A (p.Gln1448=)
c.2910G>A (p.Gln970=)
c.2073G>A (p.Gln691=)
c.1704G>A (p.Gln568=)
n.3215G>A
n.672G>A
c.4752G>A (p.Gln1584=)
n.2749G>A
c.2120G>A
c.2034G>A
n.1418G>A
c.2094G>A (p.Gln698=)
c.2253G>A (p.Gln751=)
c.4383G>A (p.Gln1461=)
c.4503G>A (p.Gln1501=)
c.3582G>A (p.Gln1194=)
c.3402G>A (p.Gln1134=)
c.3162G>A (p.Gln1054=)
c.2781G>A (p.Gln927=)
c.1644G>A (p.Gln548=)
c.4713G>A (p.Gln1571=)
c.4614G>A (p.Gln1538=)
c.4584G>A (p.Gln1528=)
c.4554G>A (p.Gln1518=)
c.4425G>A (p.Gln1475=)
c.4404G>A (p.Gln1468=)
n.4699G>A
dbSNP ExAC gnomAD v2 gnomAD v4
6g.157200977G>CCA366241351ARID1Bc.4593G>C (p.Gln1531His)
c.4662G>C (p.Gln1554His)
c.4881G>C (p.Gln1627His)
c.4632G>C (p.Gln1544His)
c.4344G>C (p.Gln1448His)
c.2910G>C (p.Gln970His)
c.2073G>C (p.Gln691His)
c.1704G>C (p.Gln568His)
n.3215G>C
n.672G>C
c.4752G>C (p.Gln1584His)
n.2749G>C
c.2120G>C
c.2034G>C
n.1418G>C
c.2094G>C (p.Gln698His)
c.2253G>C (p.Gln751His)
c.4383G>C (p.Gln1461His)
c.4503G>C (p.Gln1501His)
c.3582G>C (p.Gln1194His)
c.3402G>C (p.Gln1134His)
c.3162G>C (p.Gln1054His)
c.2781G>C (p.Gln927His)
c.1644G>C (p.Gln548His)
c.4713G>C (p.Gln1571His)
c.4614G>C (p.Gln1538His)
c.4584G>C (p.Gln1528His)
c.4554G>C (p.Gln1518His)
c.4425G>C (p.Gln1475His)
c.4404G>C (p.Gln1468His)
n.4699G>C
6g.157200977G=CA1675522793ARID1Bc.4593G= (p.Gln1531=)
c.4662G= (p.Gln1554=)
c.4881G= (p.Gln1627=)
c.4632G= (p.Gln1544=)
c.4344G= (p.Gln1448=)
c.2910G= (p.Gln970=)
c.2073G= (p.Gln691=)
c.1704G= (p.Gln568=)
n.3215G=
n.672G=
c.4752G= (p.Gln1584=)
n.2749G=
c.2120G=
c.2034G=
n.1418G=
c.2094G= (p.Gln698=)
c.2253G= (p.Gln751=)
c.4383G= (p.Gln1461=)
c.4503G= (p.Gln1501=)
c.3582G= (p.Gln1194=)
c.3402G= (p.Gln1134=)
c.3162G= (p.Gln1054=)
c.2781G= (p.Gln927=)
c.1644G= (p.Gln548=)
c.4713G= (p.Gln1571=)
c.4614G= (p.Gln1538=)
c.4584G= (p.Gln1528=)
c.4554G= (p.Gln1518=)
c.4425G= (p.Gln1475=)
c.4404G= (p.Gln1468=)
n.4699G=
6g.157200977G>TCA366241352ARID1Bc.4593G>T (p.Gln1531His)
c.4662G>T (p.Gln1554His)
c.4881G>T (p.Gln1627His)
c.4632G>T (p.Gln1544His)
c.4344G>T (p.Gln1448His)
c.2910G>T (p.Gln970His)
c.2073G>T (p.Gln691His)
c.1704G>T (p.Gln568His)
n.3215G>T
n.672G>T
c.4752G>T (p.Gln1584His)
n.2749G>T
c.2120G>T
c.2034G>T
n.1418G>T
c.2094G>T (p.Gln698His)
c.2253G>T (p.Gln751His)
c.4383G>T (p.Gln1461His)
c.4503G>T (p.Gln1501His)
c.3582G>T (p.Gln1194His)
c.3402G>T (p.Gln1134His)
c.3162G>T (p.Gln1054His)
c.2781G>T (p.Gln927His)
c.1644G>T (p.Gln548His)
c.4713G>T (p.Gln1571His)
c.4614G>T (p.Gln1538His)
c.4584G>T (p.Gln1528His)
c.4554G>T (p.Gln1518His)
c.4425G>T (p.Gln1475His)
c.4404G>T (p.Gln1468His)
n.4699G>T
6g.157200978C>ACA366241353ARID1Bc.4594C>A (p.Gln1532Lys)
c.4663C>A (p.Gln1555Lys)
c.4882C>A (p.Gln1628Lys)
c.4633C>A (p.Gln1545Lys)
c.4345C>A (p.Gln1449Lys)
c.2911C>A (p.Gln971Lys)
c.2074C>A (p.Gln692Lys)
c.1705C>A (p.Gln569Lys)
n.3216C>A
n.673C>A
c.4753C>A (p.Gln1585Lys)
n.2750C>A
c.2121C>A
c.2035C>A
n.1419C>A
c.2095C>A (p.Gln699Lys)
c.2254C>A (p.Gln752Lys)
c.4384C>A (p.Gln1462Lys)
c.4504C>A (p.Gln1502Lys)
c.3583C>A (p.Gln1195Lys)
c.3403C>A (p.Gln1135Lys)
c.3163C>A (p.Gln1055Lys)
c.2782C>A (p.Gln928Lys)
c.1645C>A (p.Gln549Lys)
c.4714C>A (p.Gln1572Lys)
c.4615C>A (p.Gln1539Lys)
c.4585C>A (p.Gln1529Lys)
c.4555C>A (p.Gln1519Lys)
c.4426C>A (p.Gln1476Lys)
c.4405C>A (p.Gln1469Lys)
n.4700C>A
6g.157200978C=CA1675522794ARID1Bc.4594C= (p.Gln1532=)
c.4663C= (p.Gln1555=)
c.4882C= (p.Gln1628=)
c.4633C= (p.Gln1545=)
c.4345C= (p.Gln1449=)
c.2911C= (p.Gln971=)
c.2074C= (p.Gln692=)
c.1705C= (p.Gln569=)
n.3216C=
n.673C=
c.4753C= (p.Gln1585=)
n.2750C=
c.2121C=
c.2035C=
n.1419C=
c.2095C= (p.Gln699=)
c.2254C= (p.Gln752=)
c.4384C= (p.Gln1462=)
c.4504C= (p.Gln1502=)
c.3583C= (p.Gln1195=)
c.3403C= (p.Gln1135=)
c.3163C= (p.Gln1055=)
c.2782C= (p.Gln928=)
c.1645C= (p.Gln549=)
c.4714C= (p.Gln1572=)
c.4615C= (p.Gln1539=)
c.4585C= (p.Gln1529=)
c.4555C= (p.Gln1519=)
c.4426C= (p.Gln1476=)
c.4405C= (p.Gln1469=)
n.4700C=
6g.157200978C>GCA366241354ARID1Bc.4594C>G (p.Gln1532Glu)
c.4663C>G (p.Gln1555Glu)
c.4882C>G (p.Gln1628Glu)
c.4633C>G (p.Gln1545Glu)
c.4345C>G (p.Gln1449Glu)
c.2911C>G (p.Gln971Glu)
c.2074C>G (p.Gln692Glu)
c.1705C>G (p.Gln569Glu)
n.3216C>G
n.673C>G
c.4753C>G (p.Gln1585Glu)
n.2750C>G
c.2121C>G
c.2035C>G
n.1419C>G
c.2095C>G (p.Gln699Glu)
c.2254C>G (p.Gln752Glu)
c.4384C>G (p.Gln1462Glu)
c.4504C>G (p.Gln1502Glu)
c.3583C>G (p.Gln1195Glu)
c.3403C>G (p.Gln1135Glu)
c.3163C>G (p.Gln1055Glu)
c.2782C>G (p.Gln928Glu)
c.1645C>G (p.Gln549Glu)
c.4714C>G (p.Gln1572Glu)
c.4615C>G (p.Gln1539Glu)
c.4585C>G (p.Gln1529Glu)
c.4555C>G (p.Gln1519Glu)
c.4426C>G (p.Gln1476Glu)
c.4405C>G (p.Gln1469Glu)
n.4700C>G
6g.157200978C>TCA366241355ARID1Bc.4594C>T (p.Gln1532Ter)
c.4663C>T (p.Gln1555Ter)
c.4882C>T (p.Gln1628Ter)
c.4633C>T (p.Gln1545Ter)
c.4345C>T (p.Gln1449Ter)
c.2911C>T (p.Gln971Ter)
c.2074C>T (p.Gln692Ter)
c.1705C>T (p.Gln569Ter)
n.3216C>T
n.673C>T
c.4753C>T (p.Gln1585Ter)
n.2750C>T
c.2121C>T
c.2035C>T
n.1419C>T
c.2095C>T (p.Gln699Ter)
c.2254C>T (p.Gln752Ter)
c.4384C>T (p.Gln1462Ter)
c.4504C>T (p.Gln1502Ter)
c.3583C>T (p.Gln1195Ter)
c.3403C>T (p.Gln1135Ter)
c.3163C>T (p.Gln1055Ter)
c.2782C>T (p.Gln928Ter)
c.1645C>T (p.Gln549Ter)
c.4714C>T (p.Gln1572Ter)
c.4615C>T (p.Gln1539Ter)
c.4585C>T (p.Gln1529Ter)
c.4555C>T (p.Gln1519Ter)
c.4426C>T (p.Gln1476Ter)
c.4405C>T (p.Gln1469Ter)
n.4700C>T
dbSNP
6g.157200979A>CCA366241358ARID1Bc.4595A>C (p.Gln1532Pro)
c.4664A>C (p.Gln1555Pro)
c.4883A>C (p.Gln1628Pro)
c.4634A>C (p.Gln1545Pro)
c.4346A>C (p.Gln1449Pro)
c.2912A>C (p.Gln971Pro)
c.2075A>C (p.Gln692Pro)
c.1706A>C (p.Gln569Pro)
n.3217A>C
n.674A>C
c.4754A>C (p.Gln1585Pro)
n.2751A>C
c.2122A>C
c.2036A>C
n.1420A>C
c.2096A>C (p.Gln699Pro)
c.2255A>C (p.Gln752Pro)
c.4385A>C (p.Gln1462Pro)
c.4505A>C (p.Gln1502Pro)
c.3584A>C (p.Gln1195Pro)
c.3404A>C (p.Gln1135Pro)
c.3164A>C (p.Gln1055Pro)
c.2783A>C (p.Gln928Pro)
c.1646A>C (p.Gln549Pro)
c.4715A>C (p.Gln1572Pro)
c.4616A>C (p.Gln1539Pro)
c.4586A>C (p.Gln1529Pro)
c.4556A>C (p.Gln1519Pro)
c.4427A>C (p.Gln1476Pro)
c.4406A>C (p.Gln1469Pro)
n.4701A>C
6g.157200979A>GCA366241356ARID1Bc.4595A>G (p.Gln1532Arg)
c.4664A>G (p.Gln1555Arg)
c.4883A>G (p.Gln1628Arg)
c.4634A>G (p.Gln1545Arg)
c.4346A>G (p.Gln1449Arg)
c.2912A>G (p.Gln971Arg)
c.2075A>G (p.Gln692Arg)
c.1706A>G (p.Gln569Arg)
n.3217A>G
n.674A>G
c.4754A>G (p.Gln1585Arg)
n.2751A>G
c.2122A>G
c.2036A>G
n.1420A>G
c.2096A>G (p.Gln699Arg)
c.2255A>G (p.Gln752Arg)
c.4385A>G (p.Gln1462Arg)
c.4505A>G (p.Gln1502Arg)
c.3584A>G (p.Gln1195Arg)
c.3404A>G (p.Gln1135Arg)
c.3164A>G (p.Gln1055Arg)
c.2783A>G (p.Gln928Arg)
c.1646A>G (p.Gln549Arg)
c.4715A>G (p.Gln1572Arg)
c.4616A>G (p.Gln1539Arg)
c.4586A>G (p.Gln1529Arg)
c.4556A>G (p.Gln1519Arg)
c.4427A>G (p.Gln1476Arg)
c.4406A>G (p.Gln1469Arg)
n.4701A>G
6g.157200979A>TCA366241357ARID1Bc.4595A>T (p.Gln1532Leu)
c.4664A>T (p.Gln1555Leu)
c.4883A>T (p.Gln1628Leu)
c.4634A>T (p.Gln1545Leu)
c.4346A>T (p.Gln1449Leu)
c.2912A>T (p.Gln971Leu)
c.2075A>T (p.Gln692Leu)
c.1706A>T (p.Gln569Leu)
n.3217A>T
n.674A>T
c.4754A>T (p.Gln1585Leu)
n.2751A>T
c.2122A>T
c.2036A>T
n.1420A>T
c.2096A>T (p.Gln699Leu)
c.2255A>T (p.Gln752Leu)
c.4385A>T (p.Gln1462Leu)
c.4505A>T (p.Gln1502Leu)
c.3584A>T (p.Gln1195Leu)
c.3404A>T (p.Gln1135Leu)
c.3164A>T (p.Gln1055Leu)
c.2783A>T (p.Gln928Leu)
c.1646A>T (p.Gln549Leu)
c.4715A>T (p.Gln1572Leu)
c.4616A>T (p.Gln1539Leu)
c.4586A>T (p.Gln1529Leu)
c.4556A>T (p.Gln1519Leu)
c.4427A>T (p.Gln1476Leu)
c.4406A>T (p.Gln1469Leu)
n.4701A>T
6g.157200980G>ACA452978293ARID1Bc.4596G>A (p.Gln1532=)
c.4665G>A (p.Gln1555=)
c.4884G>A (p.Gln1628=)
c.4635G>A (p.Gln1545=)
c.4347G>A (p.Gln1449=)
c.2913G>A (p.Gln971=)
c.2076G>A (p.Gln692=)
c.1707G>A (p.Gln569=)
n.3218G>A
n.675G>A
c.4755G>A (p.Gln1585=)
n.2752G>A
c.2123G>A
c.2037G>A
n.1421G>A
c.2097G>A (p.Gln699=)
c.2256G>A (p.Gln752=)
c.4386G>A (p.Gln1462=)
c.4506G>A (p.Gln1502=)
c.3585G>A (p.Gln1195=)
c.3405G>A (p.Gln1135=)
c.3165G>A (p.Gln1055=)
c.2784G>A (p.Gln928=)
c.1647G>A (p.Gln549=)
c.4716G>A (p.Gln1572=)
c.4617G>A (p.Gln1539=)
c.4587G>A (p.Gln1529=)
c.4557G>A (p.Gln1519=)
c.4428G>A (p.Gln1476=)
c.4407G>A (p.Gln1469=)
n.4702G>A
dbSNP
6g.157200980G>CCA366241359ARID1Bc.4596G>C (p.Gln1532His)
c.4665G>C (p.Gln1555His)
c.4884G>C (p.Gln1628His)
c.4635G>C (p.Gln1545His)
c.4347G>C (p.Gln1449His)
c.2913G>C (p.Gln971His)
c.2076G>C (p.Gln692His)
c.1707G>C (p.Gln569His)
n.3218G>C
n.675G>C
c.4755G>C (p.Gln1585His)
n.2752G>C
c.2123G>C
c.2037G>C
n.1421G>C
c.2097G>C (p.Gln699His)
c.2256G>C (p.Gln752His)
c.4386G>C (p.Gln1462His)
c.4506G>C (p.Gln1502His)
c.3585G>C (p.Gln1195His)
c.3405G>C (p.Gln1135His)
c.3165G>C (p.Gln1055His)
c.2784G>C (p.Gln928His)
c.1647G>C (p.Gln549His)
c.4716G>C (p.Gln1572His)
c.4617G>C (p.Gln1539His)
c.4587G>C (p.Gln1529His)
c.4557G>C (p.Gln1519His)
c.4428G>C (p.Gln1476His)
c.4407G>C (p.Gln1469His)
n.4702G>C
6g.157200980G=CA1675522795ARID1Bc.4596G= (p.Gln1532=)
c.4665G= (p.Gln1555=)
c.4884G= (p.Gln1628=)
c.4635G= (p.Gln1545=)
c.4347G= (p.Gln1449=)
c.2913G= (p.Gln971=)
c.2076G= (p.Gln692=)
c.1707G= (p.Gln569=)
n.3218G=
n.675G=
c.4755G= (p.Gln1585=)
n.2752G=
c.2123G=
c.2037G=
n.1421G=
c.2097G= (p.Gln699=)
c.2256G= (p.Gln752=)
c.4386G= (p.Gln1462=)
c.4506G= (p.Gln1502=)
c.3585G= (p.Gln1195=)
c.3405G= (p.Gln1135=)
c.3165G= (p.Gln1055=)
c.2784G= (p.Gln928=)
c.1647G= (p.Gln549=)
c.4716G= (p.Gln1572=)
c.4617G= (p.Gln1539=)
c.4587G= (p.Gln1529=)
c.4557G= (p.Gln1519=)
c.4428G= (p.Gln1476=)
c.4407G= (p.Gln1469=)
n.4702G=
6g.157200980G>TCA4067701ARID1Bc.4596G>T (p.Gln1532His)
c.4665G>T (p.Gln1555His)
c.4884G>T (p.Gln1628His)
c.4635G>T (p.Gln1545His)
c.4347G>T (p.Gln1449His)
c.2913G>T (p.Gln971His)
c.2076G>T (p.Gln692His)
c.1707G>T (p.Gln569His)
n.3218G>T
n.675G>T
c.4755G>T (p.Gln1585His)
n.2752G>T
c.2123G>T
c.2037G>T
n.1421G>T
c.2097G>T (p.Gln699His)
c.2256G>T (p.Gln752His)
c.4386G>T (p.Gln1462His)
c.4506G>T (p.Gln1502His)
c.3585G>T (p.Gln1195His)
c.3405G>T (p.Gln1135His)
c.3165G>T (p.Gln1055His)
c.2784G>T (p.Gln928His)
c.1647G>T (p.Gln549His)
c.4716G>T (p.Gln1572His)
c.4617G>T (p.Gln1539His)
c.4587G>T (p.Gln1529His)
c.4557G>T (p.Gln1519His)
c.4428G>T (p.Gln1476His)
c.4407G>T (p.Gln1469His)
n.4702G>T
dbSNP ExAC
6g.157200981A>CCA366241360ARID1Bc.4597A>C (p.Asn1533His)
c.4666A>C (p.Asn1556His)
c.4885A>C (p.Asn1629His)
c.4636A>C (p.Asn1546His)
c.4348A>C (p.Asn1450His)
c.2914A>C (p.Asn972His)
c.2077A>C (p.Asn693His)
c.1708A>C (p.Asn570His)
n.3219A>C
n.676A>C
c.4756A>C (p.Asn1586His)
n.2753A>C
c.2124A>C
c.2038A>C
n.1422A>C
c.2098A>C (p.Asn700His)
c.2257A>C (p.Asn753His)
c.4387A>C (p.Asn1463His)
c.4507A>C (p.Asn1503His)
c.3586A>C (p.Asn1196His)
c.3406A>C (p.Asn1136His)
c.3166A>C (p.Asn1056His)
c.2785A>C (p.Asn929His)
c.1648A>C (p.Asn550His)
c.4717A>C (p.Asn1573His)
c.4618A>C (p.Asn1540His)
c.4588A>C (p.Asn1530His)
c.4558A>C (p.Asn1520His)
c.4429A>C (p.Asn1477His)
c.4408A>C (p.Asn1470His)
n.4703A>C
6g.157200981A>GCA366241361ARID1Bc.4597A>G (p.Asn1533Asp)
c.4666A>G (p.Asn1556Asp)
c.4885A>G (p.Asn1629Asp)
c.4636A>G (p.Asn1546Asp)
c.4348A>G (p.Asn1450Asp)
c.2914A>G (p.Asn972Asp)
c.2077A>G (p.Asn693Asp)
c.1708A>G (p.Asn570Asp)
n.3219A>G
n.676A>G
c.4756A>G (p.Asn1586Asp)
n.2753A>G
c.2124A>G
c.2038A>G
n.1422A>G
c.2098A>G (p.Asn700Asp)
c.2257A>G (p.Asn753Asp)
c.4387A>G (p.Asn1463Asp)
c.4507A>G (p.Asn1503Asp)
c.3586A>G (p.Asn1196Asp)
c.3406A>G (p.Asn1136Asp)
c.3166A>G (p.Asn1056Asp)
c.2785A>G (p.Asn929Asp)
c.1648A>G (p.Asn550Asp)
c.4717A>G (p.Asn1573Asp)
c.4618A>G (p.Asn1540Asp)
c.4588A>G (p.Asn1530Asp)
c.4558A>G (p.Asn1520Asp)
c.4429A>G (p.Asn1477Asp)
c.4408A>G (p.Asn1470Asp)
n.4703A>G
6g.157200981A>TCA366241362ARID1Bc.4597A>T (p.Asn1533Tyr)
c.4666A>T (p.Asn1556Tyr)
c.4885A>T (p.Asn1629Tyr)
c.4636A>T (p.Asn1546Tyr)
c.4348A>T (p.Asn1450Tyr)
c.2914A>T (p.Asn972Tyr)
c.2077A>T (p.Asn693Tyr)
c.1708A>T (p.Asn570Tyr)
n.3219A>T
n.676A>T
c.4756A>T (p.Asn1586Tyr)
n.2753A>T
c.2124A>T
c.2038A>T
n.1422A>T
c.2098A>T (p.Asn700Tyr)
c.2257A>T (p.Asn753Tyr)
c.4387A>T (p.Asn1463Tyr)
c.4507A>T (p.Asn1503Tyr)
c.3586A>T (p.Asn1196Tyr)
c.3406A>T (p.Asn1136Tyr)
c.3166A>T (p.Asn1056Tyr)
c.2785A>T (p.Asn929Tyr)
c.1648A>T (p.Asn550Tyr)
c.4717A>T (p.Asn1573Tyr)
c.4618A>T (p.Asn1540Tyr)
c.4588A>T (p.Asn1530Tyr)
c.4558A>T (p.Asn1520Tyr)
c.4429A>T (p.Asn1477Tyr)
c.4408A>T (p.Asn1470Tyr)
n.4703A>T
6g.157200982A=CA1675522796ARID1Bc.4598A= (p.Asn1533=)
c.4667A= (p.Asn1556=)
c.4886A= (p.Asn1629=)
c.4637A= (p.Asn1546=)
c.4349A= (p.Asn1450=)
c.2915A= (p.Asn972=)
c.2078A= (p.Asn693=)
c.1709A= (p.Asn570=)
n.3220A=
n.677A=
c.4757A= (p.Asn1586=)
n.2754A=
c.2125A=
c.2039A=
n.1423A=
c.2099A= (p.Asn700=)
c.2258A= (p.Asn753=)
c.4388A= (p.Asn1463=)
c.4508A= (p.Asn1503=)
c.3587A= (p.Asn1196=)
c.3407A= (p.Asn1136=)
c.3167A= (p.Asn1056=)
c.2786A= (p.Asn929=)
c.1649A= (p.Asn550=)
c.4718A= (p.Asn1573=)
c.4619A= (p.Asn1540=)
c.4589A= (p.Asn1530=)
c.4559A= (p.Asn1520=)
c.4430A= (p.Asn1477=)
c.4409A= (p.Asn1470=)
n.4704A=
6g.157200982A>CCA366241363ARID1Bc.4598A>C (p.Asn1533Thr)
c.4667A>C (p.Asn1556Thr)
c.4886A>C (p.Asn1629Thr)
c.4637A>C (p.Asn1546Thr)
c.4349A>C (p.Asn1450Thr)
c.2915A>C (p.Asn972Thr)
c.2078A>C (p.Asn693Thr)
c.1709A>C (p.Asn570Thr)
n.3220A>C
n.677A>C
c.4757A>C (p.Asn1586Thr)
n.2754A>C
c.2125A>C
c.2039A>C
n.1423A>C
c.2099A>C (p.Asn700Thr)
c.2258A>C (p.Asn753Thr)
c.4388A>C (p.Asn1463Thr)
c.4508A>C (p.Asn1503Thr)
c.3587A>C (p.Asn1196Thr)
c.3407A>C (p.Asn1136Thr)
c.3167A>C (p.Asn1056Thr)
c.2786A>C (p.Asn929Thr)
c.1649A>C (p.Asn550Thr)
c.4718A>C (p.Asn1573Thr)
c.4619A>C (p.Asn1540Thr)
c.4589A>C (p.Asn1530Thr)
c.4559A>C (p.Asn1520Thr)
c.4430A>C (p.Asn1477Thr)
c.4409A>C (p.Asn1470Thr)
n.4704A>C
6g.157200982A>GCA4067702ARID1Bc.4598A>G (p.Asn1533Ser)
c.4667A>G (p.Asn1556Ser)
c.4886A>G (p.Asn1629Ser)
c.4637A>G (p.Asn1546Ser)
c.4349A>G (p.Asn1450Ser)
c.2915A>G (p.Asn972Ser)
c.2078A>G (p.Asn693Ser)
c.1709A>G (p.Asn570Ser)
n.3220A>G
n.677A>G
c.4757A>G (p.Asn1586Ser)
n.2754A>G
c.2125A>G
c.2039A>G
n.1423A>G
c.2099A>G (p.Asn700Ser)
c.2258A>G (p.Asn753Ser)
c.4388A>G (p.Asn1463Ser)
c.4508A>G (p.Asn1503Ser)
c.3587A>G (p.Asn1196Ser)
c.3407A>G (p.Asn1136Ser)
c.3167A>G (p.Asn1056Ser)
c.2786A>G (p.Asn929Ser)
c.1649A>G (p.Asn550Ser)
c.4718A>G (p.Asn1573Ser)
c.4619A>G (p.Asn1540Ser)
c.4589A>G (p.Asn1530Ser)
c.4559A>G (p.Asn1520Ser)
c.4430A>G (p.Asn1477Ser)
c.4409A>G (p.Asn1470Ser)
n.4704A>G
dbSNP ExAC gnomAD v2 gnomAD v4
6g.157200982A>TCA366241364ARID1Bc.4598A>T (p.Asn1533Ile)
c.4667A>T (p.Asn1556Ile)
c.4886A>T (p.Asn1629Ile)
c.4637A>T (p.Asn1546Ile)
c.4349A>T (p.Asn1450Ile)
c.2915A>T (p.Asn972Ile)
c.2078A>T (p.Asn693Ile)
c.1709A>T (p.Asn570Ile)
n.3220A>T
n.677A>T
c.4757A>T (p.Asn1586Ile)
n.2754A>T
c.2125A>T
c.2039A>T
n.1423A>T
c.2099A>T (p.Asn700Ile)
c.2258A>T (p.Asn753Ile)
c.4388A>T (p.Asn1463Ile)
c.4508A>T (p.Asn1503Ile)
c.3587A>T (p.Asn1196Ile)
c.3407A>T (p.Asn1136Ile)
c.3167A>T (p.Asn1056Ile)
c.2786A>T (p.Asn929Ile)
c.1649A>T (p.Asn550Ile)
c.4718A>T (p.Asn1573Ile)
c.4619A>T (p.Asn1540Ile)
c.4589A>T (p.Asn1530Ile)
c.4559A>T (p.Asn1520Ile)
c.4430A>T (p.Asn1477Ile)
c.4409A>T (p.Asn1470Ile)
n.4704A>T
6g.157200984_157200985delCA2695207267ARID1Bc.4600_4601del (p.Met1534ValfsTer6)
c.4669_4670del (p.Met1557ValfsTer6)
c.4888_4889del (p.Met1630ValfsTer6)
c.4639_4640del (p.Met1547ValfsTer6)
c.4351_4352del (p.Met1451ValfsTer6)
c.2917_2918del (p.Met973ValfsTer6)
c.2080_2081del (p.Met694ValfsTer6)
c.1711_1712del (p.Met571ValfsTer6)
n.3222_3223del
n.679_680del
c.4759_4760del (p.Met1587ValfsTer6)
n.2756_2757del
c.2127_2128del
c.2041_2042del
n.1425_1426del
c.2101_2102del (p.Met701ValfsTer6)
c.2260_2261del (p.Met754ValfsTer6)
c.4390_4391del (p.Met1464ValfsTer6)
c.4510_4511del (p.Met1504ValfsTer6)
c.3589_3590del (p.Met1197ValfsTer6)
c.3409_3410del (p.Met1137ValfsTer6)
c.3169_3170del (p.Met1057ValfsTer6)
c.2788_2789del (p.Met930ValfsTer6)
c.1651_1652del (p.Met551ValfsTer6)
c.4720_4721del (p.Met1574ValfsTer6)
c.4621_4622del (p.Met1541ValfsTer6)
c.4591_4592del (p.Met1531ValfsTer6)
c.4561_4562del (p.Met1521ValfsTer6)
c.4432_4433del (p.Met1478ValfsTer6)
c.4411_4412del (p.Met1471ValfsTer6)
n.4706_4707del
6g.157200983T>ACA366241365ARID1Bc.4599T>A (p.Asn1533Lys)
c.4668T>A (p.Asn1556Lys)
c.4887T>A (p.Asn1629Lys)
c.4638T>A (p.Asn1546Lys)
c.4350T>A (p.Asn1450Lys)
c.2916T>A (p.Asn972Lys)
c.2079T>A (p.Asn693Lys)
c.1710T>A (p.Asn570Lys)
n.3221T>A
n.678T>A
c.4758T>A (p.Asn1586Lys)
n.2755T>A
c.2126T>A
c.2040T>A
n.1424T>A
c.2100T>A (p.Asn700Lys)
c.2259T>A (p.Asn753Lys)
c.4389T>A (p.Asn1463Lys)
c.4509T>A (p.Asn1503Lys)
c.3588T>A (p.Asn1196Lys)
c.3408T>A (p.Asn1136Lys)
c.3168T>A (p.Asn1056Lys)
c.2787T>A (p.Asn929Lys)
c.1650T>A (p.Asn550Lys)
c.4719T>A (p.Asn1573Lys)
c.4620T>A (p.Asn1540Lys)
c.4590T>A (p.Asn1530Lys)
c.4560T>A (p.Asn1520Lys)
c.4431T>A (p.Asn1477Lys)
c.4410T>A (p.Asn1470Lys)
n.4705T>A
6g.157200983T>CCA4067703ARID1Bc.4599T>C (p.Asn1533=)
c.4668T>C (p.Asn1556=)
c.4887T>C (p.Asn1629=)
c.4638T>C (p.Asn1546=)
c.4350T>C (p.Asn1450=)
c.2916T>C (p.Asn972=)
c.2079T>C (p.Asn693=)
c.1710T>C (p.Asn570=)
n.3221T>C
n.678T>C
c.4758T>C (p.Asn1586=)
n.2755T>C
c.2126T>C
c.2040T>C
n.1424T>C
c.2100T>C (p.Asn700=)
c.2259T>C (p.Asn753=)
c.4389T>C (p.Asn1463=)
c.4509T>C (p.Asn1503=)
c.3588T>C (p.Asn1196=)
c.3408T>C (p.Asn1136=)
c.3168T>C (p.Asn1056=)
c.2787T>C (p.Asn929=)
c.1650T>C (p.Asn550=)
c.4719T>C (p.Asn1573=)
c.4620T>C (p.Asn1540=)
c.4590T>C (p.Asn1530=)
c.4560T>C (p.Asn1520=)
c.4431T>C (p.Asn1477=)
c.4410T>C (p.Asn1470=)
n.4705T>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.157200983T>GCA366241366ARID1Bc.4599T>G (p.Asn1533Lys)
c.4668T>G (p.Asn1556Lys)
c.4887T>G (p.Asn1629Lys)
c.4638T>G (p.Asn1546Lys)
c.4350T>G (p.Asn1450Lys)
c.2916T>G (p.Asn972Lys)
c.2079T>G (p.Asn693Lys)
c.1710T>G (p.Asn570Lys)
n.3221T>G
n.678T>G
c.4758T>G (p.Asn1586Lys)
n.2755T>G
c.2126T>G
c.2040T>G
n.1424T>G
c.2100T>G (p.Asn700Lys)
c.2259T>G (p.Asn753Lys)
c.4389T>G (p.Asn1463Lys)
c.4509T>G (p.Asn1503Lys)
c.3588T>G (p.Asn1196Lys)
c.3408T>G (p.Asn1136Lys)
c.3168T>G (p.Asn1056Lys)
c.2787T>G (p.Asn929Lys)
c.1650T>G (p.Asn550Lys)
c.4719T>G (p.Asn1573Lys)
c.4620T>G (p.Asn1540Lys)
c.4590T>G (p.Asn1530Lys)
c.4560T>G (p.Asn1520Lys)
c.4431T>G (p.Asn1477Lys)
c.4410T>G (p.Asn1470Lys)
n.4705T>G
6g.157200983T=CA1675522797ARID1Bc.4599T= (p.Asn1533=)
c.4668T= (p.Asn1556=)
c.4887T= (p.Asn1629=)
c.4638T= (p.Asn1546=)
c.4350T= (p.Asn1450=)
c.2916T= (p.Asn972=)
c.2079T= (p.Asn693=)
c.1710T= (p.Asn570=)
n.3221T=
n.678T=
c.4758T= (p.Asn1586=)
n.2755T=
c.2126T=
c.2040T=
n.1424T=
c.2100T= (p.Asn700=)
c.2259T= (p.Asn753=)
c.4389T= (p.Asn1463=)
c.4509T= (p.Asn1503=)
c.3588T= (p.Asn1196=)
c.3408T= (p.Asn1136=)
c.3168T= (p.Asn1056=)
c.2787T= (p.Asn929=)
c.1650T= (p.Asn550=)
c.4719T= (p.Asn1573=)
c.4620T= (p.Asn1540=)
c.4590T= (p.Asn1530=)
c.4560T= (p.Asn1520=)
c.4431T= (p.Asn1477=)
c.4410T= (p.Asn1470=)
n.4705T=
6g.157200984A>CCA366241369ARID1Bc.4600A>C (p.Met1534Leu)
c.4669A>C (p.Met1557Leu)
c.4888A>C (p.Met1630Leu)
c.4639A>C (p.Met1547Leu)
c.4351A>C (p.Met1451Leu)
c.2917A>C (p.Met973Leu)
c.2080A>C (p.Met694Leu)
c.1711A>C (p.Met571Leu)
n.3222A>C
n.679A>C
c.4759A>C (p.Met1587Leu)
n.2756A>C
c.2127A>C
c.2041A>C
n.1425A>C
c.2101A>C (p.Met701Leu)
c.2260A>C (p.Met754Leu)
c.4390A>C (p.Met1464Leu)
c.4510A>C (p.Met1504Leu)
c.3589A>C (p.Met1197Leu)
c.3409A>C (p.Met1137Leu)
c.3169A>C (p.Met1057Leu)
c.2788A>C (p.Met930Leu)
c.1651A>C (p.Met551Leu)
c.4720A>C (p.Met1574Leu)
c.4621A>C (p.Met1541Leu)
c.4591A>C (p.Met1531Leu)
c.4561A>C (p.Met1521Leu)
c.4432A>C (p.Met1478Leu)
c.4411A>C (p.Met1471Leu)
n.4706A>C
6g.157200984A>GCA366241368ARID1Bc.4600A>G (p.Met1534Val)
c.4669A>G (p.Met1557Val)
c.4888A>G (p.Met1630Val)
c.4639A>G (p.Met1547Val)
c.4351A>G (p.Met1451Val)
c.2917A>G (p.Met973Val)
c.2080A>G (p.Met694Val)
c.1711A>G (p.Met571Val)
n.3222A>G
n.679A>G
c.4759A>G (p.Met1587Val)
n.2756A>G
c.2127A>G
c.2041A>G
n.1425A>G
c.2101A>G (p.Met701Val)
c.2260A>G (p.Met754Val)
c.4390A>G (p.Met1464Val)
c.4510A>G (p.Met1504Val)
c.3589A>G (p.Met1197Val)
c.3409A>G (p.Met1137Val)
c.3169A>G (p.Met1057Val)
c.2788A>G (p.Met930Val)
c.1651A>G (p.Met551Val)
c.4720A>G (p.Met1574Val)
c.4621A>G (p.Met1541Val)
c.4591A>G (p.Met1531Val)
c.4561A>G (p.Met1521Val)
c.4432A>G (p.Met1478Val)
c.4411A>G (p.Met1471Val)
n.4706A>G
6g.157200984A>TCA366241367ARID1Bc.4600A>T (p.Met1534Leu)
c.4669A>T (p.Met1557Leu)
c.4888A>T (p.Met1630Leu)
c.4639A>T (p.Met1547Leu)
c.4351A>T (p.Met1451Leu)
c.2917A>T (p.Met973Leu)
c.2080A>T (p.Met694Leu)
c.1711A>T (p.Met571Leu)
n.3222A>T
n.679A>T
c.4759A>T (p.Met1587Leu)
n.2756A>T
c.2127A>T
c.2041A>T
n.1425A>T
c.2101A>T (p.Met701Leu)
c.2260A>T (p.Met754Leu)
c.4390A>T (p.Met1464Leu)
c.4510A>T (p.Met1504Leu)
c.3589A>T (p.Met1197Leu)
c.3409A>T (p.Met1137Leu)
c.3169A>T (p.Met1057Leu)
c.2788A>T (p.Met930Leu)
c.1651A>T (p.Met551Leu)
c.4720A>T (p.Met1574Leu)
c.4621A>T (p.Met1541Leu)
c.4591A>T (p.Met1531Leu)
c.4561A>T (p.Met1521Leu)
c.4432A>T (p.Met1478Leu)
c.4411A>T (p.Met1471Leu)
n.4706A>T
6g.157200985T>ACA366241372ARID1Bc.4601T>A (p.Met1534Lys)
c.4670T>A (p.Met1557Lys)
c.4889T>A (p.Met1630Lys)
c.4640T>A (p.Met1547Lys)
c.4352T>A (p.Met1451Lys)
c.2918T>A (p.Met973Lys)
c.2081T>A (p.Met694Lys)
c.1712T>A (p.Met571Lys)
n.3223T>A
n.680T>A
c.4760T>A (p.Met1587Lys)
n.2757T>A
c.2128T>A
c.2042T>A
n.1426T>A
c.2102T>A (p.Met701Lys)
c.2261T>A (p.Met754Lys)
c.4391T>A (p.Met1464Lys)
c.4511T>A (p.Met1504Lys)
c.3590T>A (p.Met1197Lys)
c.3410T>A (p.Met1137Lys)
c.3170T>A (p.Met1057Lys)
c.2789T>A (p.Met930Lys)
c.1652T>A (p.Met551Lys)
c.4721T>A (p.Met1574Lys)
c.4622T>A (p.Met1541Lys)
c.4592T>A (p.Met1531Lys)
c.4562T>A (p.Met1521Lys)
c.4433T>A (p.Met1478Lys)
c.4412T>A (p.Met1471Lys)
n.4707T>A
6g.157200985T>CCA366241370ARID1Bc.4601T>C (p.Met1534Thr)
c.4670T>C (p.Met1557Thr)
c.4889T>C (p.Met1630Thr)
c.4640T>C (p.Met1547Thr)
c.4352T>C (p.Met1451Thr)
c.2918T>C (p.Met973Thr)
c.2081T>C (p.Met694Thr)
c.1712T>C (p.Met571Thr)
n.3223T>C
n.680T>C
c.4760T>C (p.Met1587Thr)
n.2757T>C
c.2128T>C
c.2042T>C
n.1426T>C
c.2102T>C (p.Met701Thr)
c.2261T>C (p.Met754Thr)
c.4391T>C (p.Met1464Thr)
c.4511T>C (p.Met1504Thr)
c.3590T>C (p.Met1197Thr)
c.3410T>C (p.Met1137Thr)
c.3170T>C (p.Met1057Thr)
c.2789T>C (p.Met930Thr)
c.1652T>C (p.Met551Thr)
c.4721T>C (p.Met1574Thr)
c.4622T>C (p.Met1541Thr)
c.4592T>C (p.Met1531Thr)
c.4562T>C (p.Met1521Thr)
c.4433T>C (p.Met1478Thr)
c.4412T>C (p.Met1471Thr)
n.4707T>C
gnomAD v4
6g.157200985T>GCA366241371ARID1Bc.4601T>G (p.Met1534Arg)
c.4670T>G (p.Met1557Arg)
c.4889T>G (p.Met1630Arg)
c.4640T>G (p.Met1547Arg)
c.4352T>G (p.Met1451Arg)
c.2918T>G (p.Met973Arg)
c.2081T>G (p.Met694Arg)
c.1712T>G (p.Met571Arg)
n.3223T>G
n.680T>G
c.4760T>G (p.Met1587Arg)
n.2757T>G
c.2128T>G
c.2042T>G
n.1426T>G
c.2102T>G (p.Met701Arg)
c.2261T>G (p.Met754Arg)
c.4391T>G (p.Met1464Arg)
c.4511T>G (p.Met1504Arg)
c.3590T>G (p.Met1197Arg)
c.3410T>G (p.Met1137Arg)
c.3170T>G (p.Met1057Arg)
c.2789T>G (p.Met930Arg)
c.1652T>G (p.Met551Arg)
c.4721T>G (p.Met1574Arg)
c.4622T>G (p.Met1541Arg)
c.4592T>G (p.Met1531Arg)
c.4562T>G (p.Met1521Arg)
c.4433T>G (p.Met1478Arg)
c.4412T>G (p.Met1471Arg)
n.4707T>G
6g.157200986G>ACA366241373ARID1Bc.4602G>A (p.Met1534Ile)
c.4671G>A (p.Met1557Ile)
c.4890G>A (p.Met1630Ile)
c.4641G>A (p.Met1547Ile)
c.4353G>A (p.Met1451Ile)
c.2919G>A (p.Met973Ile)
c.2082G>A (p.Met694Ile)
c.1713G>A (p.Met571Ile)
n.3224G>A
n.681G>A
c.4761G>A (p.Met1587Ile)
n.2758G>A
c.2129G>A
c.2043G>A
n.1427G>A
c.2103G>A (p.Met701Ile)
c.2262G>A (p.Met754Ile)
c.4392G>A (p.Met1464Ile)
c.4512G>A (p.Met1504Ile)
c.3591G>A (p.Met1197Ile)
c.3411G>A (p.Met1137Ile)
c.3171G>A (p.Met1057Ile)
c.2790G>A (p.Met930Ile)
c.1653G>A (p.Met551Ile)
c.4722G>A (p.Met1574Ile)
c.4623G>A (p.Met1541Ile)
c.4593G>A (p.Met1531Ile)
c.4563G>A (p.Met1521Ile)
c.4434G>A (p.Met1478Ile)
c.4413G>A (p.Met1471Ile)
n.4708G>A
gnomAD v4
6g.157200986G>CCA366241374ARID1Bc.4602G>C (p.Met1534Ile)
c.4671G>C (p.Met1557Ile)
c.4890G>C (p.Met1630Ile)
c.4641G>C (p.Met1547Ile)
c.4353G>C (p.Met1451Ile)
c.2919G>C (p.Met973Ile)
c.2082G>C (p.Met694Ile)
c.1713G>C (p.Met571Ile)
n.3224G>C
n.681G>C
c.4761G>C (p.Met1587Ile)
n.2758G>C
c.2129G>C
c.2043G>C
n.1427G>C
c.2103G>C (p.Met701Ile)
c.2262G>C (p.Met754Ile)
c.4392G>C (p.Met1464Ile)
c.4512G>C (p.Met1504Ile)
c.3591G>C (p.Met1197Ile)
c.3411G>C (p.Met1137Ile)
c.3171G>C (p.Met1057Ile)
c.2790G>C (p.Met930Ile)
c.1653G>C (p.Met551Ile)
c.4722G>C (p.Met1574Ile)
c.4623G>C (p.Met1541Ile)
c.4593G>C (p.Met1531Ile)
c.4563G>C (p.Met1521Ile)
c.4434G>C (p.Met1478Ile)
c.4413G>C (p.Met1471Ile)
n.4708G>C
6g.157200986G>TCA366241375ARID1Bc.4602G>T (p.Met1534Ile)
c.4671G>T (p.Met1557Ile)
c.4890G>T (p.Met1630Ile)
c.4641G>T (p.Met1547Ile)
c.4353G>T (p.Met1451Ile)
c.2919G>T (p.Met973Ile)
c.2082G>T (p.Met694Ile)
c.1713G>T (p.Met571Ile)
n.3224G>T
n.681G>T
c.4761G>T (p.Met1587Ile)
n.2758G>T
c.2129G>T
c.2043G>T
n.1427G>T
c.2103G>T (p.Met701Ile)
c.2262G>T (p.Met754Ile)
c.4392G>T (p.Met1464Ile)
c.4512G>T (p.Met1504Ile)
c.3591G>T (p.Met1197Ile)
c.3411G>T (p.Met1137Ile)
c.3171G>T (p.Met1057Ile)
c.2790G>T (p.Met930Ile)
c.1653G>T (p.Met551Ile)
c.4722G>T (p.Met1574Ile)
c.4623G>T (p.Met1541Ile)
c.4593G>T (p.Met1531Ile)
c.4563G>T (p.Met1521Ile)
c.4434G>T (p.Met1478Ile)
c.4413G>T (p.Met1471Ile)
n.4708G>T
gnomAD v4
6g.157200987T>ACA366241378ARID1Bc.4603T>A (p.Trp1535Arg)
c.4672T>A (p.Trp1558Arg)
c.4891T>A (p.Trp1631Arg)
c.4642T>A (p.Trp1548Arg)
c.4354T>A (p.Trp1452Arg)
c.2920T>A (p.Trp974Arg)
c.2083T>A (p.Trp695Arg)
c.1714T>A (p.Trp572Arg)
n.3225T>A
n.682T>A
c.4762T>A (p.Trp1588Arg)
n.2759T>A
c.2130T>A
c.2044T>A
n.1428T>A
c.2104T>A (p.Trp702Arg)
c.2263T>A (p.Trp755Arg)
c.4393T>A (p.Trp1465Arg)
c.4513T>A (p.Trp1505Arg)
c.3592T>A (p.Trp1198Arg)
c.3412T>A (p.Trp1138Arg)
c.3172T>A (p.Trp1058Arg)
c.2791T>A (p.Trp931Arg)
c.1654T>A (p.Trp552Arg)
c.4723T>A (p.Trp1575Arg)
c.4624T>A (p.Trp1542Arg)
c.4594T>A (p.Trp1532Arg)
c.4564T>A (p.Trp1522Arg)
c.4435T>A (p.Trp1479Arg)
c.4414T>A (p.Trp1472Arg)
n.4709T>A
6g.157200987T>CCA366241377ARID1Bc.4603T>C (p.Trp1535Arg)
c.4672T>C (p.Trp1558Arg)
c.4891T>C (p.Trp1631Arg)
c.4642T>C (p.Trp1548Arg)
c.4354T>C (p.Trp1452Arg)
c.2920T>C (p.Trp974Arg)
c.2083T>C (p.Trp695Arg)
c.1714T>C (p.Trp572Arg)
n.3225T>C
n.682T>C
c.4762T>C (p.Trp1588Arg)
n.2759T>C
c.2130T>C
c.2044T>C
n.1428T>C
c.2104T>C (p.Trp702Arg)
c.2263T>C (p.Trp755Arg)
c.4393T>C (p.Trp1465Arg)
c.4513T>C (p.Trp1505Arg)
c.3592T>C (p.Trp1198Arg)
c.3412T>C (p.Trp1138Arg)
c.3172T>C (p.Trp1058Arg)
c.2791T>C (p.Trp931Arg)
c.1654T>C (p.Trp552Arg)
c.4723T>C (p.Trp1575Arg)
c.4624T>C (p.Trp1542Arg)
c.4594T>C (p.Trp1532Arg)
c.4564T>C (p.Trp1522Arg)
c.4435T>C (p.Trp1479Arg)
c.4414T>C (p.Trp1472Arg)
n.4709T>C
6g.157200987T>GCA366241376ARID1Bc.4603T>G (p.Trp1535Gly)
c.4672T>G (p.Trp1558Gly)
c.4891T>G (p.Trp1631Gly)
c.4642T>G (p.Trp1548Gly)
c.4354T>G (p.Trp1452Gly)
c.2920T>G (p.Trp974Gly)
c.2083T>G (p.Trp695Gly)
c.1714T>G (p.Trp572Gly)
n.3225T>G
n.682T>G
c.4762T>G (p.Trp1588Gly)
n.2759T>G
c.2130T>G
c.2044T>G
n.1428T>G
c.2104T>G (p.Trp702Gly)
c.2263T>G (p.Trp755Gly)
c.4393T>G (p.Trp1465Gly)
c.4513T>G (p.Trp1505Gly)
c.3592T>G (p.Trp1198Gly)
c.3412T>G (p.Trp1138Gly)
c.3172T>G (p.Trp1058Gly)
c.2791T>G (p.Trp931Gly)
c.1654T>G (p.Trp552Gly)
c.4723T>G (p.Trp1575Gly)
c.4624T>G (p.Trp1542Gly)
c.4594T>G (p.Trp1532Gly)
c.4564T>G (p.Trp1522Gly)
c.4435T>G (p.Trp1479Gly)
c.4414T>G (p.Trp1472Gly)
n.4709T>G
6g.157200988G>ACA366241379ARID1Bc.4604G>A (p.Trp1535Ter)
c.4673G>A (p.Trp1558Ter)
c.4892G>A (p.Trp1631Ter)
c.4643G>A (p.Trp1548Ter)
c.4355G>A (p.Trp1452Ter)
c.2921G>A (p.Trp974Ter)
c.2084G>A (p.Trp695Ter)
c.1715G>A (p.Trp572Ter)
n.3226G>A
n.683G>A
c.4763G>A (p.Trp1588Ter)
n.2760G>A
c.2131G>A
c.2045G>A
n.1429G>A
c.2105G>A (p.Trp702Ter)
c.2264G>A (p.Trp755Ter)
c.4394G>A (p.Trp1465Ter)
c.4514G>A (p.Trp1505Ter)
c.3593G>A (p.Trp1198Ter)
c.3413G>A (p.Trp1138Ter)
c.3173G>A (p.Trp1058Ter)
c.2792G>A (p.Trp931Ter)
c.1655G>A (p.Trp552Ter)
c.4724G>A (p.Trp1575Ter)
c.4625G>A (p.Trp1542Ter)
c.4595G>A (p.Trp1532Ter)
c.4565G>A (p.Trp1522Ter)
c.4436G>A (p.Trp1479Ter)
c.4415G>A (p.Trp1472Ter)
n.4710G>A
dbSNP
6g.157200988G>CCA366241380ARID1Bc.4604G>C (p.Trp1535Ser)
c.4673G>C (p.Trp1558Ser)
c.4892G>C (p.Trp1631Ser)
c.4643G>C (p.Trp1548Ser)
c.4355G>C (p.Trp1452Ser)
c.2921G>C (p.Trp974Ser)
c.2084G>C (p.Trp695Ser)
c.1715G>C (p.Trp572Ser)
n.3226G>C
n.683G>C
c.4763G>C (p.Trp1588Ser)
n.2760G>C
c.2131G>C
c.2045G>C
n.1429G>C
c.2105G>C (p.Trp702Ser)
c.2264G>C (p.Trp755Ser)
c.4394G>C (p.Trp1465Ser)
c.4514G>C (p.Trp1505Ser)
c.3593G>C (p.Trp1198Ser)
c.3413G>C (p.Trp1138Ser)
c.3173G>C (p.Trp1058Ser)
c.2792G>C (p.Trp931Ser)
c.1655G>C (p.Trp552Ser)
c.4724G>C (p.Trp1575Ser)
c.4625G>C (p.Trp1542Ser)
c.4595G>C (p.Trp1532Ser)
c.4565G>C (p.Trp1522Ser)
c.4436G>C (p.Trp1479Ser)
c.4415G>C (p.Trp1472Ser)
n.4710G>C
6g.157200988G=CA1675522798ARID1Bc.4604G= (p.Trp1535=)
c.4673G= (p.Trp1558=)
c.4892G= (p.Trp1631=)
c.4643G= (p.Trp1548=)
c.4355G= (p.Trp1452=)
c.2921G= (p.Trp974=)
c.2084G= (p.Trp695=)
c.1715G= (p.Trp572=)
n.3226G=
n.683G=
c.4763G= (p.Trp1588=)
n.2760G=
c.2131G=
c.2045G=
n.1429G=
c.2105G= (p.Trp702=)
c.2264G= (p.Trp755=)
c.4394G= (p.Trp1465=)
c.4514G= (p.Trp1505=)
c.3593G= (p.Trp1198=)
c.3413G= (p.Trp1138=)
c.3173G= (p.Trp1058=)
c.2792G= (p.Trp931=)
c.1655G= (p.Trp552=)
c.4724G= (p.Trp1575=)
c.4625G= (p.Trp1542=)
c.4595G= (p.Trp1532=)
c.4565G= (p.Trp1522=)
c.4436G= (p.Trp1479=)
c.4415G= (p.Trp1472=)
n.4710G=
6g.157200988G>TCA366241381ARID1Bc.4604G>T (p.Trp1535Leu)
c.4673G>T (p.Trp1558Leu)
c.4892G>T (p.Trp1631Leu)
c.4643G>T (p.Trp1548Leu)
c.4355G>T (p.Trp1452Leu)
c.2921G>T (p.Trp974Leu)
c.2084G>T (p.Trp695Leu)
c.1715G>T (p.Trp572Leu)
n.3226G>T
n.683G>T
c.4763G>T (p.Trp1588Leu)
n.2760G>T
c.2131G>T
c.2045G>T
n.1429G>T
c.2105G>T (p.Trp702Leu)
c.2264G>T (p.Trp755Leu)
c.4394G>T (p.Trp1465Leu)
c.4514G>T (p.Trp1505Leu)
c.3593G>T (p.Trp1198Leu)
c.3413G>T (p.Trp1138Leu)
c.3173G>T (p.Trp1058Leu)
c.2792G>T (p.Trp931Leu)
c.1655G>T (p.Trp552Leu)
c.4724G>T (p.Trp1575Leu)
c.4625G>T (p.Trp1542Leu)
c.4595G>T (p.Trp1532Leu)
c.4565G>T (p.Trp1522Leu)
c.4436G>T (p.Trp1479Leu)
c.4415G>T (p.Trp1472Leu)
n.4710G>T
6g.157200989G>ACA366241382ARID1Bc.4605G>A (p.Trp1535Ter)
c.4674G>A (p.Trp1558Ter)
c.4893G>A (p.Trp1631Ter)
c.4644G>A (p.Trp1548Ter)
c.4356G>A (p.Trp1452Ter)
c.2922G>A (p.Trp974Ter)
c.2085G>A (p.Trp695Ter)
c.1716G>A (p.Trp572Ter)
n.3227G>A
n.684G>A
c.4764G>A (p.Trp1588Ter)
n.2761G>A
c.2132G>A
c.2046G>A
n.1430G>A
c.2106G>A (p.Trp702Ter)
c.2265G>A (p.Trp755Ter)
c.4395G>A (p.Trp1465Ter)
c.4515G>A (p.Trp1505Ter)
c.3594G>A (p.Trp1198Ter)
c.3414G>A (p.Trp1138Ter)
c.3174G>A (p.Trp1058Ter)
c.2793G>A (p.Trp931Ter)
c.1656G>A (p.Trp552Ter)
c.4725G>A (p.Trp1575Ter)
c.4626G>A (p.Trp1542Ter)
c.4596G>A (p.Trp1532Ter)
c.4566G>A (p.Trp1522Ter)
c.4437G>A (p.Trp1479Ter)
c.4416G>A (p.Trp1472Ter)
n.4711G>A
dbSNP
6g.157200989G>CCA366241383ARID1Bc.4605G>C (p.Trp1535Cys)
c.4674G>C (p.Trp1558Cys)
c.4893G>C (p.Trp1631Cys)
c.4644G>C (p.Trp1548Cys)
c.4356G>C (p.Trp1452Cys)
c.2922G>C (p.Trp974Cys)
c.2085G>C (p.Trp695Cys)
c.1716G>C (p.Trp572Cys)
n.3227G>C
n.684G>C
c.4764G>C (p.Trp1588Cys)
n.2761G>C
c.2132G>C
c.2046G>C
n.1430G>C
c.2106G>C (p.Trp702Cys)
c.2265G>C (p.Trp755Cys)
c.4395G>C (p.Trp1465Cys)
c.4515G>C (p.Trp1505Cys)
c.3594G>C (p.Trp1198Cys)
c.3414G>C (p.Trp1138Cys)
c.3174G>C (p.Trp1058Cys)
c.2793G>C (p.Trp931Cys)
c.1656G>C (p.Trp552Cys)
c.4725G>C (p.Trp1575Cys)
c.4626G>C (p.Trp1542Cys)
c.4596G>C (p.Trp1532Cys)
c.4566G>C (p.Trp1522Cys)
c.4437G>C (p.Trp1479Cys)
c.4416G>C (p.Trp1472Cys)
n.4711G>C
6g.157200989G=CA1675522799ARID1Bc.4605G= (p.Trp1535=)
c.4674G= (p.Trp1558=)
c.4893G= (p.Trp1631=)
c.4644G= (p.Trp1548=)
c.4356G= (p.Trp1452=)
c.2922G= (p.Trp974=)
c.2085G= (p.Trp695=)
c.1716G= (p.Trp572=)
n.3227G=
n.684G=
c.4764G= (p.Trp1588=)
n.2761G=
c.2132G=
c.2046G=
n.1430G=
c.2106G= (p.Trp702=)
c.2265G= (p.Trp755=)
c.4395G= (p.Trp1465=)
c.4515G= (p.Trp1505=)
c.3594G= (p.Trp1198=)
c.3414G= (p.Trp1138=)
c.3174G= (p.Trp1058=)
c.2793G= (p.Trp931=)
c.1656G= (p.Trp552=)
c.4725G= (p.Trp1575=)
c.4626G= (p.Trp1542=)
c.4596G= (p.Trp1532=)
c.4566G= (p.Trp1522=)
c.4437G= (p.Trp1479=)
c.4416G= (p.Trp1472=)
n.4711G=
6g.157200989G>TCA366241384ARID1Bc.4605G>T (p.Trp1535Cys)
c.4674G>T (p.Trp1558Cys)
c.4893G>T (p.Trp1631Cys)
c.4644G>T (p.Trp1548Cys)
c.4356G>T (p.Trp1452Cys)
c.2922G>T (p.Trp974Cys)
c.2085G>T (p.Trp695Cys)
c.1716G>T (p.Trp572Cys)
n.3227G>T
n.684G>T
c.4764G>T (p.Trp1588Cys)
n.2761G>T
c.2132G>T
c.2046G>T
n.1430G>T
c.2106G>T (p.Trp702Cys)
c.2265G>T (p.Trp755Cys)
c.4395G>T (p.Trp1465Cys)
c.4515G>T (p.Trp1505Cys)
c.3594G>T (p.Trp1198Cys)
c.3414G>T (p.Trp1138Cys)
c.3174G>T (p.Trp1058Cys)
c.2793G>T (p.Trp931Cys)
c.1656G>T (p.Trp552Cys)
c.4725G>T (p.Trp1575Cys)
c.4626G>T (p.Trp1542Cys)
c.4596G>T (p.Trp1532Cys)
c.4566G>T (p.Trp1522Cys)
c.4437G>T (p.Trp1479Cys)
c.4416G>T (p.Trp1472Cys)
n.4711G>T
6g.157200990G>ACA366241385ARID1Bc.4606G>A (p.Ala1536Thr)
c.4675G>A (p.Ala1559Thr)
c.4894G>A (p.Ala1632Thr)
c.4645G>A (p.Ala1549Thr)
c.4357G>A (p.Ala1453Thr)
c.2923G>A (p.Ala975Thr)
c.2086G>A (p.Ala696Thr)
c.1717G>A (p.Ala573Thr)
n.3228G>A
n.685G>A
c.4765G>A (p.Ala1589Thr)
n.2762G>A
c.2133G>A
c.2047G>A
n.1431G>A
c.2107G>A (p.Ala703Thr)
c.2266G>A (p.Ala756Thr)
c.4396G>A (p.Ala1466Thr)
c.4516G>A (p.Ala1506Thr)
c.3595G>A (p.Ala1199Thr)
c.3415G>A (p.Ala1139Thr)
c.3175G>A (p.Ala1059Thr)
c.2794G>A (p.Ala932Thr)
c.1657G>A (p.Ala553Thr)
c.4726G>A (p.Ala1576Thr)
c.4627G>A (p.Ala1543Thr)
c.4597G>A (p.Ala1533Thr)
c.4567G>A (p.Ala1523Thr)
c.4438G>A (p.Ala1480Thr)
c.4417G>A (p.Ala1473Thr)
n.4712G>A
dbSNP gnomAD v4
6g.157200990G>CCA366241387ARID1Bc.4606G>C (p.Ala1536Pro)
c.4675G>C (p.Ala1559Pro)
c.4894G>C (p.Ala1632Pro)
c.4645G>C (p.Ala1549Pro)
c.4357G>C (p.Ala1453Pro)
c.2923G>C (p.Ala975Pro)
c.2086G>C (p.Ala696Pro)
c.1717G>C (p.Ala573Pro)
n.3228G>C
n.685G>C
c.4765G>C (p.Ala1589Pro)
n.2762G>C
c.2133G>C
c.2047G>C
n.1431G>C
c.2107G>C (p.Ala703Pro)
c.2266G>C (p.Ala756Pro)
c.4396G>C (p.Ala1466Pro)
c.4516G>C (p.Ala1506Pro)
c.3595G>C (p.Ala1199Pro)
c.3415G>C (p.Ala1139Pro)
c.3175G>C (p.Ala1059Pro)
c.2794G>C (p.Ala932Pro)
c.1657G>C (p.Ala553Pro)
c.4726G>C (p.Ala1576Pro)
c.4627G>C (p.Ala1543Pro)
c.4597G>C (p.Ala1533Pro)
c.4567G>C (p.Ala1523Pro)
c.4438G>C (p.Ala1480Pro)
c.4417G>C (p.Ala1473Pro)
n.4712G>C
6g.157200990G>TCA366241386ARID1Bc.4606G>T (p.Ala1536Ser)
c.4675G>T (p.Ala1559Ser)
c.4894G>T (p.Ala1632Ser)
c.4645G>T (p.Ala1549Ser)
c.4357G>T (p.Ala1453Ser)
c.2923G>T (p.Ala975Ser)
c.2086G>T (p.Ala696Ser)
c.1717G>T (p.Ala573Ser)
n.3228G>T
n.685G>T
c.4765G>T (p.Ala1589Ser)
n.2762G>T
c.2133G>T
c.2047G>T
n.1431G>T
c.2107G>T (p.Ala703Ser)
c.2266G>T (p.Ala756Ser)
c.4396G>T (p.Ala1466Ser)
c.4516G>T (p.Ala1506Ser)
c.3595G>T (p.Ala1199Ser)
c.3415G>T (p.Ala1139Ser)
c.3175G>T (p.Ala1059Ser)
c.2794G>T (p.Ala932Ser)
c.1657G>T (p.Ala553Ser)
c.4726G>T (p.Ala1576Ser)
c.4627G>T (p.Ala1543Ser)
c.4597G>T (p.Ala1533Ser)
c.4567G>T (p.Ala1523Ser)
c.4438G>T (p.Ala1480Ser)
c.4417G>T (p.Ala1473Ser)
n.4712G>T
6g.157200991C>ACA366241388ARID1Bc.4607C>A (p.Ala1536Glu)
c.4676C>A (p.Ala1559Glu)
c.4895C>A (p.Ala1632Glu)
c.4646C>A (p.Ala1549Glu)
c.4358C>A (p.Ala1453Glu)
c.2924C>A (p.Ala975Glu)
c.2087C>A (p.Ala696Glu)
c.1718C>A (p.Ala573Glu)
n.3229C>A
n.686C>A
c.4766C>A (p.Ala1589Glu)
n.2763C>A
c.2134C>A
c.2048C>A
n.1432C>A
c.2108C>A (p.Ala703Glu)
c.2267C>A (p.Ala756Glu)
c.4397C>A (p.Ala1466Glu)
c.4517C>A (p.Ala1506Glu)
c.3596C>A (p.Ala1199Glu)
c.3416C>A (p.Ala1139Glu)
c.3176C>A (p.Ala1059Glu)
c.2795C>A (p.Ala932Glu)
c.1658C>A (p.Ala553Glu)
c.4727C>A (p.Ala1576Glu)
c.4628C>A (p.Ala1543Glu)
c.4598C>A (p.Ala1533Glu)
c.4568C>A (p.Ala1523Glu)
c.4439C>A (p.Ala1480Glu)
c.4418C>A (p.Ala1473Glu)
n.4713C>A
COSMIC COSMIC
6g.157200991C>GCA366241389ARID1Bc.4607C>G (p.Ala1536Gly)
c.4676C>G (p.Ala1559Gly)
c.4895C>G (p.Ala1632Gly)
c.4646C>G (p.Ala1549Gly)
c.4358C>G (p.Ala1453Gly)
c.2924C>G (p.Ala975Gly)
c.2087C>G (p.Ala696Gly)
c.1718C>G (p.Ala573Gly)
n.3229C>G
n.686C>G
c.4766C>G (p.Ala1589Gly)
n.2763C>G
c.2134C>G
c.2048C>G
n.1432C>G
c.2108C>G (p.Ala703Gly)
c.2267C>G (p.Ala756Gly)
c.4397C>G (p.Ala1466Gly)
c.4517C>G (p.Ala1506Gly)
c.3596C>G (p.Ala1199Gly)
c.3416C>G (p.Ala1139Gly)
c.3176C>G (p.Ala1059Gly)
c.2795C>G (p.Ala932Gly)
c.1658C>G (p.Ala553Gly)
c.4727C>G (p.Ala1576Gly)
c.4628C>G (p.Ala1543Gly)
c.4598C>G (p.Ala1533Gly)
c.4568C>G (p.Ala1523Gly)
c.4439C>G (p.Ala1480Gly)
c.4418C>G (p.Ala1473Gly)
n.4713C>G
6g.157200991C>TCA366241390ARID1Bc.4607C>T (p.Ala1536Val)
c.4676C>T (p.Ala1559Val)
c.4895C>T (p.Ala1632Val)
c.4646C>T (p.Ala1549Val)
c.4358C>T (p.Ala1453Val)
c.2924C>T (p.Ala975Val)
c.2087C>T (p.Ala696Val)
c.1718C>T (p.Ala573Val)
n.3229C>T
n.686C>T
c.4766C>T (p.Ala1589Val)
n.2763C>T
c.2134C>T
c.2048C>T
n.1432C>T
c.2108C>T (p.Ala703Val)
c.2267C>T (p.Ala756Val)
c.4397C>T (p.Ala1466Val)
c.4517C>T (p.Ala1506Val)
c.3596C>T (p.Ala1199Val)
c.3416C>T (p.Ala1139Val)
c.3176C>T (p.Ala1059Val)
c.2795C>T (p.Ala932Val)
c.1658C>T (p.Ala553Val)
c.4727C>T (p.Ala1576Val)
c.4628C>T (p.Ala1543Val)
c.4598C>T (p.Ala1533Val)
c.4568C>T (p.Ala1523Val)
c.4439C>T (p.Ala1480Val)
c.4418C>T (p.Ala1473Val)
n.4713C>T
6g.157200992A=CA1675522800ARID1Bc.4608A= (p.Ala1536=)
c.4677A= (p.Ala1559=)
c.4896A= (p.Ala1632=)
c.4647A= (p.Ala1549=)
c.4359A= (p.Ala1453=)
c.2925A= (p.Ala975=)
c.2088A= (p.Ala696=)
c.1719A= (p.Ala573=)
n.3230A=
n.687A=
c.4767A= (p.Ala1589=)
n.2764A=
c.2135A=
c.2049A=
n.1433A=
c.2109A= (p.Ala703=)
c.2268A= (p.Ala756=)
c.4398A= (p.Ala1466=)
c.4518A= (p.Ala1506=)
c.3597A= (p.Ala1199=)
c.3417A= (p.Ala1139=)
c.3177A= (p.Ala1059=)
c.2796A= (p.Ala932=)
c.1659A= (p.Ala553=)
c.4728A= (p.Ala1576=)
c.4629A= (p.Ala1543=)
c.4599A= (p.Ala1533=)
c.4569A= (p.Ala1523=)
c.4440A= (p.Ala1480=)
c.4419A= (p.Ala1473=)
n.4714A=
6g.157200992A>CCA452978310ARID1Bc.4608A>C (p.Ala1536=)
c.4677A>C (p.Ala1559=)
c.4896A>C (p.Ala1632=)
c.4647A>C (p.Ala1549=)
c.4359A>C (p.Ala1453=)
c.2925A>C (p.Ala975=)
c.2088A>C (p.Ala696=)
c.1719A>C (p.Ala573=)
n.3230A>C
n.687A>C
c.4767A>C (p.Ala1589=)
n.2764A>C
c.2135A>C
c.2049A>C
n.1433A>C
c.2109A>C (p.Ala703=)
c.2268A>C (p.Ala756=)
c.4398A>C (p.Ala1466=)
c.4518A>C (p.Ala1506=)
c.3597A>C (p.Ala1199=)
c.3417A>C (p.Ala1139=)
c.3177A>C (p.Ala1059=)
c.2796A>C (p.Ala932=)
c.1659A>C (p.Ala553=)
c.4728A>C (p.Ala1576=)
c.4629A>C (p.Ala1543=)
c.4599A>C (p.Ala1533=)
c.4569A>C (p.Ala1523=)
c.4440A>C (p.Ala1480=)
c.4419A>C (p.Ala1473=)
n.4714A>C
6g.157200992A>GCA452978312ARID1Bc.4608A>G (p.Ala1536=)
c.4677A>G (p.Ala1559=)
c.4896A>G (p.Ala1632=)
c.4647A>G (p.Ala1549=)
c.4359A>G (p.Ala1453=)
c.2925A>G (p.Ala975=)
c.2088A>G (p.Ala696=)
c.1719A>G (p.Ala573=)
n.3230A>G
n.687A>G
c.4767A>G (p.Ala1589=)
n.2764A>G
c.2135A>G
c.2049A>G
n.1433A>G
c.2109A>G (p.Ala703=)
c.2268A>G (p.Ala756=)
c.4398A>G (p.Ala1466=)
c.4518A>G (p.Ala1506=)
c.3597A>G (p.Ala1199=)
c.3417A>G (p.Ala1139=)
c.3177A>G (p.Ala1059=)
c.2796A>G (p.Ala932=)
c.1659A>G (p.Ala553=)
c.4728A>G (p.Ala1576=)
c.4629A>G (p.Ala1543=)
c.4599A>G (p.Ala1533=)
c.4569A>G (p.Ala1523=)
c.4440A>G (p.Ala1480=)
c.4419A>G (p.Ala1473=)
n.4714A>G
dbSNP
6g.157200992A>TCA452978309ARID1Bc.4608A>T (p.Ala1536=)
c.4677A>T (p.Ala1559=)
c.4896A>T (p.Ala1632=)
c.4647A>T (p.Ala1549=)
c.4359A>T (p.Ala1453=)
c.2925A>T (p.Ala975=)
c.2088A>T (p.Ala696=)
c.1719A>T (p.Ala573=)
n.3230A>T
n.687A>T
c.4767A>T (p.Ala1589=)
n.2764A>T
c.2135A>T
c.2049A>T
n.1433A>T
c.2109A>T (p.Ala703=)
c.2268A>T (p.Ala756=)
c.4398A>T (p.Ala1466=)
c.4518A>T (p.Ala1506=)
c.3597A>T (p.Ala1199=)
c.3417A>T (p.Ala1139=)
c.3177A>T (p.Ala1059=)
c.2796A>T (p.Ala932=)
c.1659A>T (p.Ala553=)
c.4728A>T (p.Ala1576=)
c.4629A>T (p.Ala1543=)
c.4599A>T (p.Ala1533=)
c.4569A>T (p.Ala1523=)
c.4440A>T (p.Ala1480=)
c.4419A>T (p.Ala1473=)
n.4714A>T
6g.157200993G>ACA366241391ARID1Bc.4609G>A (p.Ala1537Thr)
c.4678G>A (p.Ala1560Thr)
c.4897G>A (p.Ala1633Thr)
c.4648G>A (p.Ala1550Thr)
c.4360G>A (p.Ala1454Thr)
c.2926G>A (p.Ala976Thr)
c.2089G>A (p.Ala697Thr)
c.1720G>A (p.Ala574Thr)
n.3231G>A
n.688G>A
c.4768G>A (p.Ala1590Thr)
n.2765G>A
c.2136G>A
c.2050G>A
n.1434G>A
c.2110G>A (p.Ala704Thr)
c.2269G>A (p.Ala757Thr)
c.4399G>A (p.Ala1467Thr)
c.4519G>A (p.Ala1507Thr)
c.3598G>A (p.Ala1200Thr)
c.3418G>A (p.Ala1140Thr)
c.3178G>A (p.Ala1060Thr)
c.2797G>A (p.Ala933Thr)
c.1660G>A (p.Ala554Thr)
c.4729G>A (p.Ala1577Thr)
c.4630G>A (p.Ala1544Thr)
c.4600G>A (p.Ala1534Thr)
c.4570G>A (p.Ala1524Thr)
c.4441G>A (p.Ala1481Thr)
c.4420G>A (p.Ala1474Thr)
n.4715G>A
dbSNP
6g.157200993G>CCA366241392ARID1Bc.4609G>C (p.Ala1537Pro)
c.4678G>C (p.Ala1560Pro)
c.4897G>C (p.Ala1633Pro)
c.4648G>C (p.Ala1550Pro)
c.4360G>C (p.Ala1454Pro)
c.2926G>C (p.Ala976Pro)
c.2089G>C (p.Ala697Pro)
c.1720G>C (p.Ala574Pro)
n.3231G>C
n.688G>C
c.4768G>C (p.Ala1590Pro)
n.2765G>C
c.2136G>C
c.2050G>C
n.1434G>C
c.2110G>C (p.Ala704Pro)
c.2269G>C (p.Ala757Pro)
c.4399G>C (p.Ala1467Pro)
c.4519G>C (p.Ala1507Pro)
c.3598G>C (p.Ala1200Pro)
c.3418G>C (p.Ala1140Pro)
c.3178G>C (p.Ala1060Pro)
c.2797G>C (p.Ala933Pro)
c.1660G>C (p.Ala554Pro)
c.4729G>C (p.Ala1577Pro)
c.4630G>C (p.Ala1544Pro)
c.4600G>C (p.Ala1534Pro)
c.4570G>C (p.Ala1524Pro)
c.4441G>C (p.Ala1481Pro)
c.4420G>C (p.Ala1474Pro)
n.4715G>C
6g.157200993G>TCA366241393ARID1Bc.4609G>T (p.Ala1537Ser)
c.4678G>T (p.Ala1560Ser)
c.4897G>T (p.Ala1633Ser)
c.4648G>T (p.Ala1550Ser)
c.4360G>T (p.Ala1454Ser)
c.2926G>T (p.Ala976Ser)
c.2089G>T (p.Ala697Ser)
c.1720G>T (p.Ala574Ser)
n.3231G>T
n.688G>T
c.4768G>T (p.Ala1590Ser)
n.2765G>T
c.2136G>T
c.2050G>T
n.1434G>T
c.2110G>T (p.Ala704Ser)
c.2269G>T (p.Ala757Ser)
c.4399G>T (p.Ala1467Ser)
c.4519G>T (p.Ala1507Ser)
c.3598G>T (p.Ala1200Ser)
c.3418G>T (p.Ala1140Ser)
c.3178G>T (p.Ala1060Ser)
c.2797G>T (p.Ala933Ser)
c.1660G>T (p.Ala554Ser)
c.4729G>T (p.Ala1577Ser)
c.4630G>T (p.Ala1544Ser)
c.4600G>T (p.Ala1534Ser)
c.4570G>T (p.Ala1524Ser)
c.4441G>T (p.Ala1481Ser)
c.4420G>T (p.Ala1474Ser)
n.4715G>T
6g.157200994C>ACA366241394ARID1Bc.4610C>A (p.Ala1537Glu)
c.4679C>A (p.Ala1560Glu)
c.4898C>A (p.Ala1633Glu)
c.4649C>A (p.Ala1550Glu)
c.4361C>A (p.Ala1454Glu)
c.2927C>A (p.Ala976Glu)
c.2090C>A (p.Ala697Glu)
c.1721C>A (p.Ala574Glu)
n.3232C>A
n.689C>A
c.4769C>A (p.Ala1590Glu)
n.2766C>A
c.2137C>A
c.2051C>A
n.1435C>A
c.2111C>A (p.Ala704Glu)
c.2270C>A (p.Ala757Glu)
c.4400C>A (p.Ala1467Glu)
c.4520C>A (p.Ala1507Glu)
c.3599C>A (p.Ala1200Glu)
c.3419C>A (p.Ala1140Glu)
c.3179C>A (p.Ala1060Glu)
c.2798C>A (p.Ala933Glu)
c.1661C>A (p.Ala554Glu)
c.4730C>A (p.Ala1577Glu)
c.4631C>A (p.Ala1544Glu)
c.4601C>A (p.Ala1534Glu)
c.4571C>A (p.Ala1524Glu)
c.4442C>A (p.Ala1481Glu)
c.4421C>A (p.Ala1474Glu)
n.4716C>A
6g.157200994C>GCA366241395ARID1Bc.4610C>G (p.Ala1537Gly)
c.4679C>G (p.Ala1560Gly)
c.4898C>G (p.Ala1633Gly)
c.4649C>G (p.Ala1550Gly)
c.4361C>G (p.Ala1454Gly)
c.2927C>G (p.Ala976Gly)
c.2090C>G (p.Ala697Gly)
c.1721C>G (p.Ala574Gly)
n.3232C>G
n.689C>G
c.4769C>G (p.Ala1590Gly)
n.2766C>G
c.2137C>G
c.2051C>G
n.1435C>G
c.2111C>G (p.Ala704Gly)
c.2270C>G (p.Ala757Gly)
c.4400C>G (p.Ala1467Gly)
c.4520C>G (p.Ala1507Gly)
c.3599C>G (p.Ala1200Gly)
c.3419C>G (p.Ala1140Gly)
c.3179C>G (p.Ala1060Gly)
c.2798C>G (p.Ala933Gly)
c.1661C>G (p.Ala554Gly)
c.4730C>G (p.Ala1577Gly)
c.4631C>G (p.Ala1544Gly)
c.4601C>G (p.Ala1534Gly)
c.4571C>G (p.Ala1524Gly)
c.4442C>G (p.Ala1481Gly)
c.4421C>G (p.Ala1474Gly)
n.4716C>G
6g.157200994C>TCA366241396ARID1Bc.4610C>T (p.Ala1537Val)
c.4679C>T (p.Ala1560Val)
c.4898C>T (p.Ala1633Val)
c.4649C>T (p.Ala1550Val)
c.4361C>T (p.Ala1454Val)
c.2927C>T (p.Ala976Val)
c.2090C>T (p.Ala697Val)
c.1721C>T (p.Ala574Val)
n.3232C>T
n.689C>T
c.4769C>T (p.Ala1590Val)
n.2766C>T
c.2137C>T
c.2051C>T
n.1435C>T
c.2111C>T (p.Ala704Val)
c.2270C>T (p.Ala757Val)
c.4400C>T (p.Ala1467Val)
c.4520C>T (p.Ala1507Val)
c.3599C>T (p.Ala1200Val)
c.3419C>T (p.Ala1140Val)
c.3179C>T (p.Ala1060Val)
c.2798C>T (p.Ala933Val)
c.1661C>T (p.Ala554Val)
c.4730C>T (p.Ala1577Val)
c.4631C>T (p.Ala1544Val)
c.4601C>T (p.Ala1534Val)
c.4571C>T (p.Ala1524Val)
c.4442C>T (p.Ala1481Val)
c.4421C>T (p.Ala1474Val)
n.4716C>T
dbSNP gnomAD v4
6g.157200995_157200996dupCA2580075315ARID1Bc.4611_4612dup (p.Arg1538HisfsTer27)
c.4680_4681dup (p.Arg1561HisfsTer27)
c.4899_4900dup (p.Arg1634HisfsTer27)
c.4650_4651dup (p.Arg1551HisfsTer27)
c.4362_4363dup (p.Arg1455HisfsTer27)
c.2928_2929dup (p.Arg977HisfsTer27)
c.2091_2092dup (p.Arg698HisfsTer27)
c.1722_1723dup (p.Arg575HisfsTer27)
n.3233_3234dup
n.690_691dup
c.4770_4771dup (p.Arg1591HisfsTer27)
n.2767_2768dup
c.2138_2139dup
c.2052_2053dup
n.1436_1437dup
c.2112_2113dup (p.Arg705HisfsTer27)
c.2271_2272dup (p.Arg758HisfsTer27)
c.4401_4402dup (p.Arg1468HisfsTer27)
c.4521_4522dup (p.Arg1508HisfsTer27)
c.3600_3601dup (p.Arg1201HisfsTer27)
c.3420_3421dup (p.Arg1141HisfsTer27)
c.3180_3181dup (p.Arg1061HisfsTer27)
c.2799_2800dup (p.Arg934HisfsTer27)
c.1662_1663dup (p.Arg555HisfsTer27)
c.4731_4732dup (p.Arg1578HisfsTer27)
c.4632_4633dup (p.Arg1545HisfsTer27)
c.4602_4603dup (p.Arg1535HisfsTer27)
c.4572_4573dup (p.Arg1525HisfsTer27)
c.4443_4444dup (p.Arg1482HisfsTer27)
c.4422_4423dup (p.Arg1475HisfsTer27)
n.4717_4718dup
ClinVar
6g.157200995A=CA1675522801ARID1Bc.4611A= (p.Ala1537=)
c.4680A= (p.Ala1560=)
c.4899A= (p.Ala1633=)
c.4650A= (p.Ala1550=)
c.4362A= (p.Ala1454=)
c.2928A= (p.Ala976=)
c.2091A= (p.Ala697=)
c.1722A= (p.Ala574=)
n.3233A=
n.690A=
c.4770A= (p.Ala1590=)
n.2767A=
c.2138A=
c.2052A=
n.1436A=
c.2112A= (p.Ala704=)
c.2271A= (p.Ala757=)
c.4401A= (p.Ala1467=)
c.4521A= (p.Ala1507=)
c.3600A= (p.Ala1200=)
c.3420A= (p.Ala1140=)
c.3180A= (p.Ala1060=)
c.2799A= (p.Ala933=)
c.1662A= (p.Ala554=)
c.4731A= (p.Ala1577=)
c.4632A= (p.Ala1544=)
c.4602A= (p.Ala1534=)
c.4572A= (p.Ala1524=)
c.4443A= (p.Ala1481=)
c.4422A= (p.Ala1474=)
n.4717A=
6g.157200995A>CCA452978317ARID1Bc.4611A>C (p.Ala1537=)
c.4680A>C (p.Ala1560=)
c.4899A>C (p.Ala1633=)
c.4650A>C (p.Ala1550=)
c.4362A>C (p.Ala1454=)
c.2928A>C (p.Ala976=)
c.2091A>C (p.Ala697=)
c.1722A>C (p.Ala574=)
n.3233A>C
n.690A>C
c.4770A>C (p.Ala1590=)
n.2767A>C
c.2138A>C
c.2052A>C
n.1436A>C
c.2112A>C (p.Ala704=)
c.2271A>C (p.Ala757=)
c.4401A>C (p.Ala1467=)
c.4521A>C (p.Ala1507=)
c.3600A>C (p.Ala1200=)
c.3420A>C (p.Ala1140=)
c.3180A>C (p.Ala1060=)
c.2799A>C (p.Ala933=)
c.1662A>C (p.Ala554=)
c.4731A>C (p.Ala1577=)
c.4632A>C (p.Ala1544=)
c.4602A>C (p.Ala1534=)
c.4572A>C (p.Ala1524=)
c.4443A>C (p.Ala1481=)
c.4422A>C (p.Ala1474=)
n.4717A>C
6g.157200995A>GCA452978313ARID1Bc.4611A>G (p.Ala1537=)
c.4680A>G (p.Ala1560=)
c.4899A>G (p.Ala1633=)
c.4650A>G (p.Ala1550=)
c.4362A>G (p.Ala1454=)
c.2928A>G (p.Ala976=)
c.2091A>G (p.Ala697=)
c.1722A>G (p.Ala574=)
n.3233A>G
n.690A>G
c.4770A>G (p.Ala1590=)
n.2767A>G
c.2138A>G
c.2052A>G
n.1436A>G
c.2112A>G (p.Ala704=)
c.2271A>G (p.Ala757=)
c.4401A>G (p.Ala1467=)
c.4521A>G (p.Ala1507=)
c.3600A>G (p.Ala1200=)
c.3420A>G (p.Ala1140=)
c.3180A>G (p.Ala1060=)
c.2799A>G (p.Ala933=)
c.1662A>G (p.Ala554=)
c.4731A>G (p.Ala1577=)
c.4632A>G (p.Ala1544=)
c.4602A>G (p.Ala1534=)
c.4572A>G (p.Ala1524=)
c.4443A>G (p.Ala1481=)
c.4422A>G (p.Ala1474=)
n.4717A>G
dbSNP
6g.157200995A>TCA452978315ARID1Bc.4611A>T (p.Ala1537=)
c.4680A>T (p.Ala1560=)
c.4899A>T (p.Ala1633=)
c.4650A>T (p.Ala1550=)
c.4362A>T (p.Ala1454=)
c.2928A>T (p.Ala976=)
c.2091A>T (p.Ala697=)
c.1722A>T (p.Ala574=)
n.3233A>T
n.690A>T
c.4770A>T (p.Ala1590=)
n.2767A>T
c.2138A>T
c.2052A>T
n.1436A>T
c.2112A>T (p.Ala704=)
c.2271A>T (p.Ala757=)
c.4401A>T (p.Ala1467=)
c.4521A>T (p.Ala1507=)
c.3600A>T (p.Ala1200=)
c.3420A>T (p.Ala1140=)
c.3180A>T (p.Ala1060=)
c.2799A>T (p.Ala933=)
c.1662A>T (p.Ala554=)
c.4731A>T (p.Ala1577=)
c.4632A>T (p.Ala1544=)
c.4602A>T (p.Ala1534=)
c.4572A>T (p.Ala1524=)
c.4443A>T (p.Ala1481=)
c.4422A>T (p.Ala1474=)
n.4717A>T
6g.157200996C>ACA366241397ARID1Bc.4612C>A (p.Arg1538Ser)
c.4681C>A (p.Arg1561Ser)
c.4900C>A (p.Arg1634Ser)
c.4651C>A (p.Arg1551Ser)
c.4363C>A (p.Arg1455Ser)
c.2929C>A (p.Arg977Ser)
c.2092C>A (p.Arg698Ser)
c.1723C>A (p.Arg575Ser)
n.3234C>A
n.691C>A
c.4771C>A (p.Arg1591Ser)
n.2768C>A
c.2139C>A
c.2053C>A
n.1437C>A
c.2113C>A (p.Arg705Ser)
c.2272C>A (p.Arg758Ser)
c.4402C>A (p.Arg1468Ser)
c.4522C>A (p.Arg1508Ser)
c.3601C>A (p.Arg1201Ser)
c.3421C>A (p.Arg1141Ser)
c.3181C>A (p.Arg1061Ser)
c.2800C>A (p.Arg934Ser)
c.1663C>A (p.Arg555Ser)
c.4732C>A (p.Arg1578Ser)
c.4633C>A (p.Arg1545Ser)
c.4603C>A (p.Arg1535Ser)
c.4573C>A (p.Arg1525Ser)
c.4444C>A (p.Arg1482Ser)
c.4423C>A (p.Arg1475Ser)
n.4718C>A
6g.157200996C=CA1675522802ARID1Bc.4612C= (p.Arg1538=)
c.4681C= (p.Arg1561=)
c.4900C= (p.Arg1634=)
c.4651C= (p.Arg1551=)
c.4363C= (p.Arg1455=)
c.2929C= (p.Arg977=)
c.2092C= (p.Arg698=)
c.1723C= (p.Arg575=)
n.3234C=
n.691C=
c.4771C= (p.Arg1591=)
n.2768C=
c.2139C=
c.2053C=
n.1437C=
c.2113C= (p.Arg705=)
c.2272C= (p.Arg758=)
c.4402C= (p.Arg1468=)
c.4522C= (p.Arg1508=)
c.3601C= (p.Arg1201=)
c.3421C= (p.Arg1141=)
c.3181C= (p.Arg1061=)
c.2800C= (p.Arg934=)
c.1663C= (p.Arg555=)
c.4732C= (p.Arg1578=)
c.4633C= (p.Arg1545=)
c.4603C= (p.Arg1535=)
c.4573C= (p.Arg1525=)
c.4444C= (p.Arg1482=)
c.4423C= (p.Arg1475=)
n.4718C=
6g.157200996C>GCA366241398ARID1Bc.4612C>G (p.Arg1538Gly)
c.4681C>G (p.Arg1561Gly)
c.4900C>G (p.Arg1634Gly)
c.4651C>G (p.Arg1551Gly)
c.4363C>G (p.Arg1455Gly)
c.2929C>G (p.Arg977Gly)
c.2092C>G (p.Arg698Gly)
c.1723C>G (p.Arg575Gly)
n.3234C>G
n.691C>G
c.4771C>G (p.Arg1591Gly)
n.2768C>G
c.2139C>G
c.2053C>G
n.1437C>G
c.2113C>G (p.Arg705Gly)
c.2272C>G (p.Arg758Gly)
c.4402C>G (p.Arg1468Gly)
c.4522C>G (p.Arg1508Gly)
c.3601C>G (p.Arg1201Gly)
c.3421C>G (p.Arg1141Gly)
c.3181C>G (p.Arg1061Gly)
c.2800C>G (p.Arg934Gly)
c.1663C>G (p.Arg555Gly)
c.4732C>G (p.Arg1578Gly)
c.4633C>G (p.Arg1545Gly)
c.4603C>G (p.Arg1535Gly)
c.4573C>G (p.Arg1525Gly)
c.4444C>G (p.Arg1482Gly)
c.4423C>G (p.Arg1475Gly)
n.4718C>G
dbSNP
6g.157200996C>TCA4067704ARID1Bc.4612C>T (p.Arg1538Cys)
c.4681C>T (p.Arg1561Cys)
c.4900C>T (p.Arg1634Cys)
c.4651C>T (p.Arg1551Cys)
c.4363C>T (p.Arg1455Cys)
c.2929C>T (p.Arg977Cys)
c.2092C>T (p.Arg698Cys)
c.1723C>T (p.Arg575Cys)
n.3234C>T
n.691C>T
c.4771C>T (p.Arg1591Cys)
n.2768C>T
c.2139C>T
c.2053C>T
n.1437C>T
c.2113C>T (p.Arg705Cys)
c.2272C>T (p.Arg758Cys)
c.4402C>T (p.Arg1468Cys)
c.4522C>T (p.Arg1508Cys)
c.3601C>T (p.Arg1201Cys)
c.3421C>T (p.Arg1141Cys)
c.3181C>T (p.Arg1061Cys)
c.2800C>T (p.Arg934Cys)
c.1663C>T (p.Arg555Cys)
c.4732C>T (p.Arg1578Cys)
c.4633C>T (p.Arg1545Cys)
c.4603C>T (p.Arg1535Cys)
c.4573C>T (p.Arg1525Cys)
c.4444C>T (p.Arg1482Cys)
c.4423C>T (p.Arg1475Cys)
n.4718C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.157200997G>ACA4067705ARID1Bc.4613G>A (p.Arg1538His)
c.4682G>A (p.Arg1561His)
c.4901G>A (p.Arg1634His)
c.4652G>A (p.Arg1551His)
c.4364G>A (p.Arg1455His)
c.2930G>A (p.Arg977His)
c.2093G>A (p.Arg698His)
c.1724G>A (p.Arg575His)
n.3235G>A
n.692G>A
c.4772G>A (p.Arg1591His)
n.2769G>A
c.2140G>A
c.2054G>A
n.1438G>A
c.2114G>A (p.Arg705His)
c.2273G>A (p.Arg758His)
c.4403G>A (p.Arg1468His)
c.4523G>A (p.Arg1508His)
c.3602G>A (p.Arg1201His)
c.3422G>A (p.Arg1141His)
c.3182G>A (p.Arg1061His)
c.2801G>A (p.Arg934His)
c.1664G>A (p.Arg555His)
c.4733G>A (p.Arg1578His)
c.4634G>A (p.Arg1545His)
c.4604G>A (p.Arg1535His)
c.4574G>A (p.Arg1525His)
c.4445G>A (p.Arg1482His)
c.4424G>A (p.Arg1475His)
n.4719G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
6g.157200997G>CCA366241404ARID1Bc.4613G>C (p.Arg1538Pro)
c.4682G>C (p.Arg1561Pro)
c.4901G>C (p.Arg1634Pro)
c.4652G>C (p.Arg1551Pro)
c.4364G>C (p.Arg1455Pro)
c.2930G>C (p.Arg977Pro)
c.2093G>C (p.Arg698Pro)
c.1724G>C (p.Arg575Pro)
n.3235G>C
n.692G>C
c.4772G>C (p.Arg1591Pro)
n.2769G>C
c.2140G>C
c.2054G>C
n.1438G>C
c.2114G>C (p.Arg705Pro)
c.2273G>C (p.Arg758Pro)
c.4403G>C (p.Arg1468Pro)
c.4523G>C (p.Arg1508Pro)
c.3602G>C (p.Arg1201Pro)
c.3422G>C (p.Arg1141Pro)
c.3182G>C (p.Arg1061Pro)
c.2801G>C (p.Arg934Pro)
c.1664G>C (p.Arg555Pro)
c.4733G>C (p.Arg1578Pro)
c.4634G>C (p.Arg1545Pro)
c.4604G>C (p.Arg1535Pro)
c.4574G>C (p.Arg1525Pro)
c.4445G>C (p.Arg1482Pro)
c.4424G>C (p.Arg1475Pro)
n.4719G>C
6g.157200997G=CA1675522803ARID1Bc.4613G= (p.Arg1538=)
c.4682G= (p.Arg1561=)
c.4901G= (p.Arg1634=)
c.4652G= (p.Arg1551=)
c.4364G= (p.Arg1455=)
c.2930G= (p.Arg977=)
c.2093G= (p.Arg698=)
c.1724G= (p.Arg575=)
n.3235G=
n.692G=
c.4772G= (p.Arg1591=)
n.2769G=
c.2140G=
c.2054G=
n.1438G=
c.2114G= (p.Arg705=)
c.2273G= (p.Arg758=)
c.4403G= (p.Arg1468=)
c.4523G= (p.Arg1508=)
c.3602G= (p.Arg1201=)
c.3422G= (p.Arg1141=)
c.3182G= (p.Arg1061=)
c.2801G= (p.Arg934=)
c.1664G= (p.Arg555=)
c.4733G= (p.Arg1578=)
c.4634G= (p.Arg1545=)
c.4604G= (p.Arg1535=)
c.4574G= (p.Arg1525=)
c.4445G= (p.Arg1482=)
c.4424G= (p.Arg1475=)
n.4719G=
6g.157200997G>TCA366241402ARID1Bc.4613G>T (p.Arg1538Leu)
c.4682G>T (p.Arg1561Leu)
c.4901G>T (p.Arg1634Leu)
c.4652G>T (p.Arg1551Leu)
c.4364G>T (p.Arg1455Leu)
c.2930G>T (p.Arg977Leu)
c.2093G>T (p.Arg698Leu)
c.1724G>T (p.Arg575Leu)
n.3235G>T
n.692G>T
c.4772G>T (p.Arg1591Leu)
n.2769G>T
c.2140G>T
c.2054G>T
n.1438G>T
c.2114G>T (p.Arg705Leu)
c.2273G>T (p.Arg758Leu)
c.4403G>T (p.Arg1468Leu)
c.4523G>T (p.Arg1508Leu)
c.3602G>T (p.Arg1201Leu)
c.3422G>T (p.Arg1141Leu)
c.3182G>T (p.Arg1061Leu)
c.2801G>T (p.Arg934Leu)
c.1664G>T (p.Arg555Leu)
c.4733G>T (p.Arg1578Leu)
c.4634G>T (p.Arg1545Leu)
c.4604G>T (p.Arg1535Leu)
c.4574G>T (p.Arg1525Leu)
c.4445G>T (p.Arg1482Leu)
c.4424G>T (p.Arg1475Leu)
n.4719G>T
gnomAD v4
6g.157200998C>ACA452978326ARID1Bc.4614C>A (p.Arg1538=)
c.4683C>A (p.Arg1561=)
c.4902C>A (p.Arg1634=)
c.4653C>A (p.Arg1551=)
c.4365C>A (p.Arg1455=)
c.2931C>A (p.Arg977=)
c.2094C>A (p.Arg698=)
c.1725C>A (p.Arg575=)
n.3236C>A
n.693C>A
c.4773C>A (p.Arg1591=)
n.2770C>A
c.2141C>A
c.2055C>A
n.1439C>A
c.2115C>A (p.Arg705=)
c.2274C>A (p.Arg758=)
c.4404C>A (p.Arg1468=)
c.4524C>A (p.Arg1508=)
c.3603C>A (p.Arg1201=)
c.3423C>A (p.Arg1141=)
c.3183C>A (p.Arg1061=)
c.2802C>A (p.Arg934=)
c.1665C>A (p.Arg555=)
c.4734C>A (p.Arg1578=)
c.4635C>A (p.Arg1545=)
c.4605C>A (p.Arg1535=)
c.4575C>A (p.Arg1525=)
c.4446C>A (p.Arg1482=)
c.4425C>A (p.Arg1475=)
n.4720C>A
6g.157200998C>GCA452978327ARID1Bc.4614C>G (p.Arg1538=)
c.4683C>G (p.Arg1561=)
c.4902C>G (p.Arg1634=)
c.4653C>G (p.Arg1551=)
c.4365C>G (p.Arg1455=)
c.2931C>G (p.Arg977=)
c.2094C>G (p.Arg698=)
c.1725C>G (p.Arg575=)
n.3236C>G
n.693C>G
c.4773C>G (p.Arg1591=)
n.2770C>G
c.2141C>G
c.2055C>G
n.1439C>G
c.2115C>G (p.Arg705=)
c.2274C>G (p.Arg758=)
c.4404C>G (p.Arg1468=)
c.4524C>G (p.Arg1508=)
c.3603C>G (p.Arg1201=)
c.3423C>G (p.Arg1141=)
c.3183C>G (p.Arg1061=)
c.2802C>G (p.Arg934=)
c.1665C>G (p.Arg555=)
c.4734C>G (p.Arg1578=)
c.4635C>G (p.Arg1545=)
c.4605C>G (p.Arg1535=)
c.4575C>G (p.Arg1525=)
c.4446C>G (p.Arg1482=)
c.4425C>G (p.Arg1475=)
n.4720C>G
6g.157200998C>TCA452978320ARID1Bc.4614C>T (p.Arg1538=)
c.4683C>T (p.Arg1561=)
c.4902C>T (p.Arg1634=)
c.4653C>T (p.Arg1551=)
c.4365C>T (p.Arg1455=)
c.2931C>T (p.Arg977=)
c.2094C>T (p.Arg698=)
c.1725C>T (p.Arg575=)
n.3236C>T
n.693C>T
c.4773C>T (p.Arg1591=)
n.2770C>T
c.2141C>T
c.2055C>T
n.1439C>T
c.2115C>T (p.Arg705=)
c.2274C>T (p.Arg758=)
c.4404C>T (p.Arg1468=)
c.4524C>T (p.Arg1508=)
c.3603C>T (p.Arg1201=)
c.3423C>T (p.Arg1141=)
c.3183C>T (p.Arg1061=)
c.2802C>T (p.Arg934=)
c.1665C>T (p.Arg555=)
c.4734C>T (p.Arg1578=)
c.4635C>T (p.Arg1545=)
c.4605C>T (p.Arg1535=)
c.4575C>T (p.Arg1525=)
c.4446C>T (p.Arg1482=)
c.4425C>T (p.Arg1475=)
n.4720C>T
6g.157200999A=CA1675522804ARID1Bc.4615A= (p.Asn1539=)
c.4684A= (p.Asn1562=)
c.4903A= (p.Asn1635=)
c.4654A= (p.Asn1552=)
c.4366A= (p.Asn1456=)
c.2932A= (p.Asn978=)
c.2095A= (p.Asn699=)
c.1726A= (p.Asn576=)
n.3237A=
n.694A=
c.4774A= (p.Asn1592=)
n.2771A=
c.2142A=
c.2056A=
n.1440A=
c.2116A= (p.Asn706=)
c.2275A= (p.Asn759=)
c.4405A= (p.Asn1469=)
c.4525A= (p.Asn1509=)
c.3604A= (p.Asn1202=)
c.3424A= (p.Asn1142=)
c.3184A= (p.Asn1062=)
c.2803A= (p.Asn935=)
c.1666A= (p.Asn556=)
c.4735A= (p.Asn1579=)
c.4636A= (p.Asn1546=)
c.4606A= (p.Asn1536=)
c.4576A= (p.Asn1526=)
c.4447A= (p.Asn1483=)
c.4426A= (p.Asn1476=)
n.4721A=
6g.157200999A>CCA4067706ARID1Bc.4615A>C (p.Asn1539His)
c.4684A>C (p.Asn1562His)
c.4903A>C (p.Asn1635His)
c.4654A>C (p.Asn1552His)
c.4366A>C (p.Asn1456His)
c.2932A>C (p.Asn978His)
c.2095A>C (p.Asn699His)
c.1726A>C (p.Asn576His)
n.3237A>C
n.694A>C
c.4774A>C (p.Asn1592His)
n.2771A>C
c.2142A>C
c.2056A>C
n.1440A>C
c.2116A>C (p.Asn706His)
c.2275A>C (p.Asn759His)
c.4405A>C (p.Asn1469His)
c.4525A>C (p.Asn1509His)
c.3604A>C (p.Asn1202His)
c.3424A>C (p.Asn1142His)
c.3184A>C (p.Asn1062His)
c.2803A>C (p.Asn935His)
c.1666A>C (p.Asn556His)
c.4735A>C (p.Asn1579His)
c.4636A>C (p.Asn1546His)
c.4606A>C (p.Asn1536His)
c.4576A>C (p.Asn1526His)
c.4447A>C (p.Asn1483His)
c.4426A>C (p.Asn1476His)
n.4721A>C
dbSNP ExAC gnomAD v2 gnomAD v4
6g.157200999A>GCA366241410ARID1Bc.4615A>G (p.Asn1539Asp)
c.4684A>G (p.Asn1562Asp)
c.4903A>G (p.Asn1635Asp)
c.4654A>G (p.Asn1552Asp)
c.4366A>G (p.Asn1456Asp)
c.2932A>G (p.Asn978Asp)
c.2095A>G (p.Asn699Asp)
c.1726A>G (p.Asn576Asp)
n.3237A>G
n.694A>G
c.4774A>G (p.Asn1592Asp)
n.2771A>G
c.2142A>G
c.2056A>G
n.1440A>G
c.2116A>G (p.Asn706Asp)
c.2275A>G (p.Asn759Asp)
c.4405A>G (p.Asn1469Asp)
c.4525A>G (p.Asn1509Asp)
c.3604A>G (p.Asn1202Asp)
c.3424A>G (p.Asn1142Asp)
c.3184A>G (p.Asn1062Asp)
c.2803A>G (p.Asn935Asp)
c.1666A>G (p.Asn556Asp)
c.4735A>G (p.Asn1579Asp)
c.4636A>G (p.Asn1546Asp)
c.4606A>G (p.Asn1536Asp)
c.4576A>G (p.Asn1526Asp)
c.4447A>G (p.Asn1483Asp)
c.4426A>G (p.Asn1476Asp)
n.4721A>G
6g.157200999A>TCA366241408ARID1Bc.4615A>T (p.Asn1539Tyr)
c.4684A>T (p.Asn1562Tyr)
c.4903A>T (p.Asn1635Tyr)
c.4654A>T (p.Asn1552Tyr)
c.4366A>T (p.Asn1456Tyr)
c.2932A>T (p.Asn978Tyr)
c.2095A>T (p.Asn699Tyr)
c.1726A>T (p.Asn576Tyr)
n.3237A>T
n.694A>T
c.4774A>T (p.Asn1592Tyr)
n.2771A>T
c.2142A>T
c.2056A>T
n.1440A>T
c.2116A>T (p.Asn706Tyr)
c.2275A>T (p.Asn759Tyr)
c.4405A>T (p.Asn1469Tyr)
c.4525A>T (p.Asn1509Tyr)
c.3604A>T (p.Asn1202Tyr)
c.3424A>T (p.Asn1142Tyr)
c.3184A>T (p.Asn1062Tyr)
c.2803A>T (p.Asn935Tyr)
c.1666A>T (p.Asn556Tyr)
c.4735A>T (p.Asn1579Tyr)
c.4636A>T (p.Asn1546Tyr)
c.4606A>T (p.Asn1536Tyr)
c.4576A>T (p.Asn1526Tyr)
c.4447A>T (p.Asn1483Tyr)
c.4426A>T (p.Asn1476Tyr)
n.4721A>T
6g.157201000A>CCA366241412ARID1Bc.4616A>C (p.Asn1539Thr)
c.4685A>C (p.Asn1562Thr)
c.4904A>C (p.Asn1635Thr)
c.4655A>C (p.Asn1552Thr)
c.4367A>C (p.Asn1456Thr)
c.2933A>C (p.Asn978Thr)
c.2096A>C (p.Asn699Thr)
c.1727A>C (p.Asn576Thr)
n.3238A>C
n.695A>C
c.4775A>C (p.Asn1592Thr)
n.2772A>C
c.2143A>C
c.2057A>C
n.1441A>C
c.2117A>C (p.Asn706Thr)
c.2276A>C (p.Asn759Thr)
c.4406A>C (p.Asn1469Thr)
c.4526A>C (p.Asn1509Thr)
c.3605A>C (p.Asn1202Thr)
c.3425A>C (p.Asn1142Thr)
c.3185A>C (p.Asn1062Thr)
c.2804A>C (p.Asn935Thr)
c.1667A>C (p.Asn556Thr)
c.4736A>C (p.Asn1579Thr)
c.4637A>C (p.Asn1546Thr)
c.4607A>C (p.Asn1536Thr)
c.4577A>C (p.Asn1526Thr)
c.4448A>C (p.Asn1483Thr)
c.4427A>C (p.Asn1476Thr)
n.4722A>C
6g.157201000A>GCA366241414ARID1Bc.4616A>G (p.Asn1539Ser)
c.4685A>G (p.Asn1562Ser)
c.4904A>G (p.Asn1635Ser)
c.4655A>G (p.Asn1552Ser)
c.4367A>G (p.Asn1456Ser)
c.2933A>G (p.Asn978Ser)
c.2096A>G (p.Asn699Ser)
c.1727A>G (p.Asn576Ser)
n.3238A>G
n.695A>G
c.4775A>G (p.Asn1592Ser)
n.2772A>G
c.2143A>G
c.2057A>G
n.1441A>G
c.2117A>G (p.Asn706Ser)
c.2276A>G (p.Asn759Ser)
c.4406A>G (p.Asn1469Ser)
c.4526A>G (p.Asn1509Ser)
c.3605A>G (p.Asn1202Ser)
c.3425A>G (p.Asn1142Ser)
c.3185A>G (p.Asn1062Ser)
c.2804A>G (p.Asn935Ser)
c.1667A>G (p.Asn556Ser)
c.4736A>G (p.Asn1579Ser)
c.4637A>G (p.Asn1546Ser)
c.4607A>G (p.Asn1536Ser)
c.4577A>G (p.Asn1526Ser)
c.4448A>G (p.Asn1483Ser)
c.4427A>G (p.Asn1476Ser)
n.4722A>G
6g.157201000A>TCA366241417ARID1Bc.4616A>T (p.Asn1539Ile)
c.4685A>T (p.Asn1562Ile)
c.4904A>T (p.Asn1635Ile)
c.4655A>T (p.Asn1552Ile)
c.4367A>T (p.Asn1456Ile)
c.2933A>T (p.Asn978Ile)
c.2096A>T (p.Asn699Ile)
c.1727A>T (p.Asn576Ile)
n.3238A>T
n.695A>T
c.4775A>T (p.Asn1592Ile)
n.2772A>T
c.2143A>T
c.2057A>T
n.1441A>T
c.2117A>T (p.Asn706Ile)
c.2276A>T (p.Asn759Ile)
c.4406A>T (p.Asn1469Ile)
c.4526A>T (p.Asn1509Ile)
c.3605A>T (p.Asn1202Ile)
c.3425A>T (p.Asn1142Ile)
c.3185A>T (p.Asn1062Ile)
c.2804A>T (p.Asn935Ile)
c.1667A>T (p.Asn556Ile)
c.4736A>T (p.Asn1579Ile)
c.4637A>T (p.Asn1546Ile)
c.4607A>T (p.Asn1536Ile)
c.4577A>T (p.Asn1526Ile)
c.4448A>T (p.Asn1483Ile)
c.4427A>T (p.Asn1476Ile)
n.4722A>T
6g.157201001T>ACA366241420ARID1Bc.4617T>A (p.Asn1539Lys)
c.4686T>A (p.Asn1562Lys)
c.4905T>A (p.Asn1635Lys)
c.4656T>A (p.Asn1552Lys)
c.4368T>A (p.Asn1456Lys)
c.2934T>A (p.Asn978Lys)
c.2097T>A (p.Asn699Lys)
c.1728T>A (p.Asn576Lys)
n.3239T>A
n.696T>A
c.4776T>A (p.Asn1592Lys)
n.2773T>A
c.2144T>A
c.2058T>A
n.1442T>A
c.2118T>A (p.Asn706Lys)
c.2277T>A (p.Asn759Lys)
c.4407T>A (p.Asn1469Lys)
c.4527T>A (p.Asn1509Lys)
c.3606T>A (p.Asn1202Lys)
c.3426T>A (p.Asn1142Lys)
c.3186T>A (p.Asn1062Lys)
c.2805T>A (p.Asn935Lys)
c.1668T>A (p.Asn556Lys)
c.4737T>A (p.Asn1579Lys)
c.4638T>A (p.Asn1546Lys)
c.4608T>A (p.Asn1536Lys)
c.4578T>A (p.Asn1526Lys)
c.4449T>A (p.Asn1483Lys)
c.4428T>A (p.Asn1476Lys)
n.4723T>A
6g.157201001T>CCA4067707ARID1Bc.4617T>C (p.Asn1539=)
c.4686T>C (p.Asn1562=)
c.4905T>C (p.Asn1635=)
c.4656T>C (p.Asn1552=)
c.4368T>C (p.Asn1456=)
c.2934T>C (p.Asn978=)
c.2097T>C (p.Asn699=)
c.1728T>C (p.Asn576=)
n.3239T>C
n.696T>C
c.4776T>C (p.Asn1592=)
n.2773T>C
c.2144T>C
c.2058T>C
n.1442T>C
c.2118T>C (p.Asn706=)
c.2277T>C (p.Asn759=)
c.4407T>C (p.Asn1469=)
c.4527T>C (p.Asn1509=)
c.3606T>C (p.Asn1202=)
c.3426T>C (p.Asn1142=)
c.3186T>C (p.Asn1062=)
c.2805T>C (p.Asn935=)
c.1668T>C (p.Asn556=)
c.4737T>C (p.Asn1579=)
c.4638T>C (p.Asn1546=)
c.4608T>C (p.Asn1536=)
c.4578T>C (p.Asn1526=)
c.4449T>C (p.Asn1483=)
c.4428T>C (p.Asn1476=)
n.4723T>C
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
6g.157201001T>GCA366241423ARID1Bc.4617T>G (p.Asn1539Lys)
c.4686T>G (p.Asn1562Lys)
c.4905T>G (p.Asn1635Lys)
c.4656T>G (p.Asn1552Lys)
c.4368T>G (p.Asn1456Lys)
c.2934T>G (p.Asn978Lys)
c.2097T>G (p.Asn699Lys)
c.1728T>G (p.Asn576Lys)
n.3239T>G
n.696T>G
c.4776T>G (p.Asn1592Lys)
n.2773T>G
c.2144T>G
c.2058T>G
n.1442T>G
c.2118T>G (p.Asn706Lys)
c.2277T>G (p.Asn759Lys)
c.4407T>G (p.Asn1469Lys)
c.4527T>G (p.Asn1509Lys)
c.3606T>G (p.Asn1202Lys)
c.3426T>G (p.Asn1142Lys)
c.3186T>G (p.Asn1062Lys)
c.2805T>G (p.Asn935Lys)
c.1668T>G (p.Asn556Lys)
c.4737T>G (p.Asn1579Lys)
c.4638T>G (p.Asn1546Lys)
c.4608T>G (p.Asn1536Lys)
c.4578T>G (p.Asn1526Lys)
c.4449T>G (p.Asn1483Lys)
c.4428T>G (p.Asn1476Lys)
n.4723T>G
6g.157201001T=CA1675522805ARID1Bc.4617T= (p.Asn1539=)
c.4686T= (p.Asn1562=)
c.4905T= (p.Asn1635=)
c.4656T= (p.Asn1552=)
c.4368T= (p.Asn1456=)
c.2934T= (p.Asn978=)
c.2097T= (p.Asn699=)
c.1728T= (p.Asn576=)
n.3239T=
n.696T=
c.4776T= (p.Asn1592=)
n.2773T=
c.2144T=
c.2058T=
n.1442T=
c.2118T= (p.Asn706=)
c.2277T= (p.Asn759=)
c.4407T= (p.Asn1469=)
c.4527T= (p.Asn1509=)
c.3606T= (p.Asn1202=)
c.3426T= (p.Asn1142=)
c.3186T= (p.Asn1062=)
c.2805T= (p.Asn935=)
c.1668T= (p.Asn556=)
c.4737T= (p.Asn1579=)
c.4638T= (p.Asn1546=)
c.4608T= (p.Asn1536=)
c.4578T= (p.Asn1526=)
c.4449T= (p.Asn1483=)
c.4428T= (p.Asn1476=)
n.4723T=
6g.157201002G>ACA366241427ARID1Bc.4618G>A (p.Asp1540Asn)
c.4687G>A (p.Asp1563Asn)
c.4906G>A (p.Asp1636Asn)
c.4657G>A (p.Asp1553Asn)
c.4369G>A (p.Asp1457Asn)
c.2935G>A (p.Asp979Asn)
c.2098G>A (p.Asp700Asn)
c.1729G>A (p.Asp577Asn)
n.3240G>A
n.697G>A
c.4777G>A (p.Asp1593Asn)
n.2774G>A
c.2145G>A
c.2059G>A
n.1443G>A
c.2119G>A (p.Asp707Asn)
c.2278G>A (p.Asp760Asn)
c.4408G>A (p.Asp1470Asn)
c.4528G>A (p.Asp1510Asn)
c.3607G>A (p.Asp1203Asn)
c.3427G>A (p.Asp1143Asn)
c.3187G>A (p.Asp1063Asn)
c.2806G>A (p.Asp936Asn)
c.1669G>A (p.Asp557Asn)
c.4738G>A (p.Asp1580Asn)
c.4639G>A (p.Asp1547Asn)
c.4609G>A (p.Asp1537Asn)
c.4579G>A (p.Asp1527Asn)
c.4450G>A (p.Asp1484Asn)
c.4429G>A (p.Asp1477Asn)
n.4724G>A
6g.157201002G>CCA366241429ARID1Bc.4618G>C (p.Asp1540His)
c.4687G>C (p.Asp1563His)
c.4906G>C (p.Asp1636His)
c.4657G>C (p.Asp1553His)
c.4369G>C (p.Asp1457His)
c.2935G>C (p.Asp979His)
c.2098G>C (p.Asp700His)
c.1729G>C (p.Asp577His)
n.3240G>C
n.697G>C
c.4777G>C (p.Asp1593His)
n.2774G>C
c.2145G>C
c.2059G>C
n.1443G>C
c.2119G>C (p.Asp707His)
c.2278G>C (p.Asp760His)
c.4408G>C (p.Asp1470His)
c.4528G>C (p.Asp1510His)
c.3607G>C (p.Asp1203His)
c.3427G>C (p.Asp1143His)
c.3187G>C (p.Asp1063His)
c.2806G>C (p.Asp936His)
c.1669G>C (p.Asp557His)
c.4738G>C (p.Asp1580His)
c.4639G>C (p.Asp1547His)
c.4609G>C (p.Asp1537His)
c.4579G>C (p.Asp1527His)
c.4450G>C (p.Asp1484His)
c.4429G>C (p.Asp1477His)
n.4724G>C
6g.157201002G=CA1675522806ARID1Bc.4618G= (p.Asp1540=)
c.4687G= (p.Asp1563=)
c.4906G= (p.Asp1636=)
c.4657G= (p.Asp1553=)
c.4369G= (p.Asp1457=)
c.2935G= (p.Asp979=)
c.2098G= (p.Asp700=)
c.1729G= (p.Asp577=)
n.3240G=
n.697G=
c.4777G= (p.Asp1593=)
n.2774G=
c.2145G=
c.2059G=
n.1443G=
c.2119G= (p.Asp707=)
c.2278G= (p.Asp760=)
c.4408G= (p.Asp1470=)
c.4528G= (p.Asp1510=)
c.3607G= (p.Asp1203=)
c.3427G= (p.Asp1143=)
c.3187G= (p.Asp1063=)
c.2806G= (p.Asp936=)
c.1669G= (p.Asp557=)
c.4738G= (p.Asp1580=)
c.4639G= (p.Asp1547=)
c.4609G= (p.Asp1537=)
c.4579G= (p.Asp1527=)
c.4450G= (p.Asp1484=)
c.4429G= (p.Asp1477=)
n.4724G=
6g.157201002G>TCA4067708ARID1Bc.4618G>T (p.Asp1540Tyr)
c.4687G>T (p.Asp1563Tyr)
c.4906G>T (p.Asp1636Tyr)
c.4657G>T (p.Asp1553Tyr)
c.4369G>T (p.Asp1457Tyr)
c.2935G>T (p.Asp979Tyr)
c.2098G>T (p.Asp700Tyr)
c.1729G>T (p.Asp577Tyr)
n.3240G>T
n.697G>T
c.4777G>T (p.Asp1593Tyr)
n.2774G>T
c.2145G>T
c.2059G>T
n.1443G>T
c.2119G>T (p.Asp707Tyr)
c.2278G>T (p.Asp760Tyr)
c.4408G>T (p.Asp1470Tyr)
c.4528G>T (p.Asp1510Tyr)
c.3607G>T (p.Asp1203Tyr)
c.3427G>T (p.Asp1143Tyr)
c.3187G>T (p.Asp1063Tyr)
c.2806G>T (p.Asp936Tyr)
c.1669G>T (p.Asp557Tyr)
c.4738G>T (p.Asp1580Tyr)
c.4639G>T (p.Asp1547Tyr)
c.4609G>T (p.Asp1537Tyr)
c.4579G>T (p.Asp1527Tyr)
c.4450G>T (p.Asp1484Tyr)
c.4429G>T (p.Asp1477Tyr)
n.4724G>T
dbSNP ExAC gnomAD v2
6g.157201003A=CA1675522807ARID1Bc.4619A= (p.Asp1540=)
c.4688A= (p.Asp1563=)
c.4907A= (p.Asp1636=)
c.4658A= (p.Asp1553=)
c.4370A= (p.Asp1457=)
c.2936A= (p.Asp979=)
c.2099A= (p.Asp700=)
c.1730A= (p.Asp577=)
n.3241A=
n.698A=
c.4778A= (p.Asp1593=)
n.2775A=
c.2146A=
c.2060A=
n.1444A=
c.2120A= (p.Asp707=)
c.2279A= (p.Asp760=)
c.4409A= (p.Asp1470=)
c.4529A= (p.Asp1510=)
c.3608A= (p.Asp1203=)
c.3428A= (p.Asp1143=)
c.3188A= (p.Asp1063=)
c.2807A= (p.Asp936=)
c.1670A= (p.Asp557=)
c.4739A= (p.Asp1580=)
c.4640A= (p.Asp1547=)
c.4610A= (p.Asp1537=)
c.4580A= (p.Asp1527=)
c.4451A= (p.Asp1484=)
c.4430A= (p.Asp1477=)
n.4725A=
6g.157201003A>CCA366241432ARID1Bc.4619A>C (p.Asp1540Ala)
c.4688A>C (p.Asp1563Ala)
c.4907A>C (p.Asp1636Ala)
c.4658A>C (p.Asp1553Ala)
c.4370A>C (p.Asp1457Ala)
c.2936A>C (p.Asp979Ala)
c.2099A>C (p.Asp700Ala)
c.1730A>C (p.Asp577Ala)
n.3241A>C
n.698A>C
c.4778A>C (p.Asp1593Ala)
n.2775A>C
c.2146A>C
c.2060A>C
n.1444A>C
c.2120A>C (p.Asp707Ala)
c.2279A>C (p.Asp760Ala)
c.4409A>C (p.Asp1470Ala)
c.4529A>C (p.Asp1510Ala)
c.3608A>C (p.Asp1203Ala)
c.3428A>C (p.Asp1143Ala)
c.3188A>C (p.Asp1063Ala)
c.2807A>C (p.Asp936Ala)
c.1670A>C (p.Asp557Ala)
c.4739A>C (p.Asp1580Ala)
c.4640A>C (p.Asp1547Ala)
c.4610A>C (p.Asp1537Ala)
c.4580A>C (p.Asp1527Ala)
c.4451A>C (p.Asp1484Ala)
c.4430A>C (p.Asp1477Ala)
n.4725A>C
6g.157201003A>GCA366241436ARID1Bc.4619A>G (p.Asp1540Gly)
c.4688A>G (p.Asp1563Gly)
c.4907A>G (p.Asp1636Gly)
c.4658A>G (p.Asp1553Gly)
c.4370A>G (p.Asp1457Gly)
c.2936A>G (p.Asp979Gly)
c.2099A>G (p.Asp700Gly)
c.1730A>G (p.Asp577Gly)
n.3241A>G
n.698A>G
c.4778A>G (p.Asp1593Gly)
n.2775A>G
c.2146A>G
c.2060A>G
n.1444A>G
c.2120A>G (p.Asp707Gly)
c.2279A>G (p.Asp760Gly)
c.4409A>G (p.Asp1470Gly)
c.4529A>G (p.Asp1510Gly)
c.3608A>G (p.Asp1203Gly)
c.3428A>G (p.Asp1143Gly)
c.3188A>G (p.Asp1063Gly)
c.2807A>G (p.Asp936Gly)
c.1670A>G (p.Asp557Gly)
c.4739A>G (p.Asp1580Gly)
c.4640A>G (p.Asp1547Gly)
c.4610A>G (p.Asp1537Gly)
c.4580A>G (p.Asp1527Gly)
c.4451A>G (p.Asp1484Gly)
c.4430A>G (p.Asp1477Gly)
n.4725A>G
dbSNP
6g.157201003A>TCA4067709ARID1Bc.4619A>T (p.Asp1540Val)
c.4688A>T (p.Asp1563Val)
c.4907A>T (p.Asp1636Val)
c.4658A>T (p.Asp1553Val)
c.4370A>T (p.Asp1457Val)
c.2936A>T (p.Asp979Val)
c.2099A>T (p.Asp700Val)
c.1730A>T (p.Asp577Val)
n.3241A>T
n.698A>T
c.4778A>T (p.Asp1593Val)
n.2775A>T
c.2146A>T
c.2060A>T
n.1444A>T
c.2120A>T (p.Asp707Val)
c.2279A>T (p.Asp760Val)
c.4409A>T (p.Asp1470Val)
c.4529A>T (p.Asp1510Val)
c.3608A>T (p.Asp1203Val)
c.3428A>T (p.Asp1143Val)
c.3188A>T (p.Asp1063Val)
c.2807A>T (p.Asp936Val)
c.1670A>T (p.Asp557Val)
c.4739A>T (p.Asp1580Val)
c.4640A>T (p.Asp1547Val)
c.4610A>T (p.Asp1537Val)
c.4580A>T (p.Asp1527Val)
c.4451A>T (p.Asp1484Val)
c.4430A>T (p.Asp1477Val)
n.4725A>T
dbSNP ExAC gnomAD v2 gnomAD v4
6g.157201004T>ACA366241440ARID1Bc.4620T>A (p.Asp1540Glu)
c.4689T>A (p.Asp1563Glu)
c.4908T>A (p.Asp1636Glu)
c.4659T>A (p.Asp1553Glu)
c.4371T>A (p.Asp1457Glu)
c.2937T>A (p.Asp979Glu)
c.2100T>A (p.Asp700Glu)
c.1731T>A (p.Asp577Glu)
n.3242T>A
n.699T>A
c.4779T>A (p.Asp1593Glu)
n.2776T>A
c.2147T>A
c.2061T>A
n.1445T>A
c.2121T>A (p.Asp707Glu)
c.2280T>A (p.Asp760Glu)
c.4410T>A (p.Asp1470Glu)
c.4530T>A (p.Asp1510Glu)
c.3609T>A (p.Asp1203Glu)
c.3429T>A (p.Asp1143Glu)
c.3189T>A (p.Asp1063Glu)
c.2808T>A (p.Asp936Glu)
c.1671T>A (p.Asp557Glu)
c.4740T>A (p.Asp1580Glu)
c.4641T>A (p.Asp1547Glu)
c.4611T>A (p.Asp1537Glu)
c.4581T>A (p.Asp1527Glu)
c.4452T>A (p.Asp1484Glu)
c.4431T>A (p.Asp1477Glu)
n.4726T>A
6g.157201004T>CCA150370074ARID1Bc.4620T>C (p.Asp1540=)
c.4689T>C (p.Asp1563=)
c.4908T>C (p.Asp1636=)
c.4659T>C (p.Asp1553=)
c.4371T>C (p.Asp1457=)
c.2937T>C (p.Asp979=)
c.2100T>C (p.Asp700=)
c.1731T>C (p.Asp577=)
n.3242T>C
n.699T>C
c.4779T>C (p.Asp1593=)
n.2776T>C
c.2147T>C
c.2061T>C
n.1445T>C
c.2121T>C (p.Asp707=)
c.2280T>C (p.Asp760=)
c.4410T>C (p.Asp1470=)
c.4530T>C (p.Asp1510=)
c.3609T>C (p.Asp1203=)
c.3429T>C (p.Asp1143=)
c.3189T>C (p.Asp1063=)
c.2808T>C (p.Asp936=)
c.1671T>C (p.Asp557=)
c.4740T>C (p.Asp1580=)
c.4641T>C (p.Asp1547=)
c.4611T>C (p.Asp1537=)
c.4581T>C (p.Asp1527=)
c.4452T>C (p.Asp1484=)
c.4431T>C (p.Asp1477=)
n.4726T>C
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.157201004T>GCA366241442ARID1Bc.4620T>G (p.Asp1540Glu)
c.4689T>G (p.Asp1563Glu)
c.4908T>G (p.Asp1636Glu)
c.4659T>G (p.Asp1553Glu)
c.4371T>G (p.Asp1457Glu)
c.2937T>G (p.Asp979Glu)
c.2100T>G (p.Asp700Glu)
c.1731T>G (p.Asp577Glu)
n.3242T>G
n.699T>G
c.4779T>G (p.Asp1593Glu)
n.2776T>G
c.2147T>G
c.2061T>G
n.1445T>G
c.2121T>G (p.Asp707Glu)
c.2280T>G (p.Asp760Glu)
c.4410T>G (p.Asp1470Glu)
c.4530T>G (p.Asp1510Glu)
c.3609T>G (p.Asp1203Glu)
c.3429T>G (p.Asp1143Glu)
c.3189T>G (p.Asp1063Glu)
c.2808T>G (p.Asp936Glu)
c.1671T>G (p.Asp557Glu)
c.4740T>G (p.Asp1580Glu)
c.4641T>G (p.Asp1547Glu)
c.4611T>G (p.Asp1537Glu)
c.4581T>G (p.Asp1527Glu)
c.4452T>G (p.Asp1484Glu)
c.4431T>G (p.Asp1477Glu)
n.4726T>G
6g.157201004T=CA1675522808ARID1Bc.4620T= (p.Asp1540=)
c.4689T= (p.Asp1563=)
c.4908T= (p.Asp1636=)
c.4659T= (p.Asp1553=)
c.4371T= (p.Asp1457=)
c.2937T= (p.Asp979=)
c.2100T= (p.Asp700=)
c.1731T= (p.Asp577=)
n.3242T=
n.699T=
c.4779T= (p.Asp1593=)
n.2776T=
c.2147T=
c.2061T=
n.1445T=
c.2121T= (p.Asp707=)
c.2280T= (p.Asp760=)
c.4410T= (p.Asp1470=)
c.4530T= (p.Asp1510=)
c.3609T= (p.Asp1203=)
c.3429T= (p.Asp1143=)
c.3189T= (p.Asp1063=)
c.2808T= (p.Asp936=)
c.1671T= (p.Asp557=)
c.4740T= (p.Asp1580=)
c.4641T= (p.Asp1547=)
c.4611T= (p.Asp1537=)
c.4581T= (p.Asp1527=)
c.4452T= (p.Asp1484=)
c.4431T= (p.Asp1477=)
n.4726T=
6g.157201005A>CCA366241445ARID1Bc.4621A>C (p.Met1541Leu)
c.4690A>C (p.Met1564Leu)
c.4909A>C (p.Met1637Leu)
c.4660A>C (p.Met1554Leu)
c.4372A>C (p.Met1458Leu)
c.2938A>C (p.Met980Leu)
c.2101A>C (p.Met701Leu)
c.1732A>C (p.Met578Leu)
n.3243A>C
n.700A>C
c.4780A>C (p.Met1594Leu)
n.2777A>C
c.2148A>C
c.2062A>C
n.1446A>C
c.2122A>C (p.Met708Leu)
c.2281A>C (p.Met761Leu)
c.4411A>C (p.Met1471Leu)
c.4531A>C (p.Met1511Leu)
c.3610A>C (p.Met1204Leu)
c.3430A>C (p.Met1144Leu)
c.3190A>C (p.Met1064Leu)
c.2809A>C (p.Met937Leu)
c.1672A>C (p.Met558Leu)
c.4741A>C (p.Met1581Leu)
c.4642A>C (p.Met1548Leu)
c.4612A>C (p.Met1538Leu)
c.4582A>C (p.Met1528Leu)
c.4453A>C (p.Met1485Leu)
c.4432A>C (p.Met1478Leu)
n.4727A>C
6g.157201005A>GCA366241447ARID1Bc.4621A>G (p.Met1541Val)
c.4690A>G (p.Met1564Val)
c.4909A>G (p.Met1637Val)
c.4660A>G (p.Met1554Val)
c.4372A>G (p.Met1458Val)
c.2938A>G (p.Met980Val)
c.2101A>G (p.Met701Val)
c.1732A>G (p.Met578Val)
n.3243A>G
n.700A>G
c.4780A>G (p.Met1594Val)
n.2777A>G
c.2148A>G
c.2062A>G
n.1446A>G
c.2122A>G (p.Met708Val)
c.2281A>G (p.Met761Val)
c.4411A>G (p.Met1471Val)
c.4531A>G (p.Met1511Val)
c.3610A>G (p.Met1204Val)
c.3430A>G (p.Met1144Val)
c.3190A>G (p.Met1064Val)
c.2809A>G (p.Met937Val)
c.1672A>G (p.Met558Val)
c.4741A>G (p.Met1581Val)
c.4642A>G (p.Met1548Val)
c.4612A>G (p.Met1538Val)
c.4582A>G (p.Met1528Val)
c.4453A>G (p.Met1485Val)
c.4432A>G (p.Met1478Val)
n.4727A>G
6g.157201005A>TCA366241454ARID1Bc.4621A>T (p.Met1541Leu)
c.4690A>T (p.Met1564Leu)
c.4909A>T (p.Met1637Leu)
c.4660A>T (p.Met1554Leu)
c.4372A>T (p.Met1458Leu)
c.2938A>T (p.Met980Leu)
c.2101A>T (p.Met701Leu)
c.1732A>T (p.Met578Leu)
n.3243A>T
n.700A>T
c.4780A>T (p.Met1594Leu)
n.2777A>T
c.2148A>T
c.2062A>T
n.1446A>T
c.2122A>T (p.Met708Leu)
c.2281A>T (p.Met761Leu)
c.4411A>T (p.Met1471Leu)
c.4531A>T (p.Met1511Leu)
c.3610A>T (p.Met1204Leu)
c.3430A>T (p.Met1144Leu)
c.3190A>T (p.Met1064Leu)
c.2809A>T (p.Met937Leu)
c.1672A>T (p.Met558Leu)
c.4741A>T (p.Met1581Leu)
c.4642A>T (p.Met1548Leu)
c.4612A>T (p.Met1538Leu)
c.4582A>T (p.Met1528Leu)
c.4453A>T (p.Met1485Leu)
c.4432A>T (p.Met1478Leu)
n.4727A>T
6g.157201006T>ACA366241458ARID1Bc.4622T>A (p.Met1541Lys)
c.4691T>A (p.Met1564Lys)
c.4910T>A (p.Met1637Lys)
c.4661T>A (p.Met1554Lys)
c.4373T>A (p.Met1458Lys)
c.2939T>A (p.Met980Lys)
c.2102T>A (p.Met701Lys)
c.1733T>A (p.Met578Lys)
n.3244T>A
n.701T>A
c.4781T>A (p.Met1594Lys)
n.2778T>A
c.2149T>A
c.2063T>A
n.1447T>A
c.2123T>A (p.Met708Lys)
c.2282T>A (p.Met761Lys)
c.4412T>A (p.Met1471Lys)
c.4532T>A (p.Met1511Lys)
c.3611T>A (p.Met1204Lys)
c.3431T>A (p.Met1144Lys)
c.3191T>A (p.Met1064Lys)
c.2810T>A (p.Met937Lys)
c.1673T>A (p.Met558Lys)
c.4742T>A (p.Met1581Lys)
c.4643T>A (p.Met1548Lys)
c.4613T>A (p.Met1538Lys)
c.4583T>A (p.Met1528Lys)
c.4454T>A (p.Met1485Lys)
c.4433T>A (p.Met1478Lys)
n.4728T>A
6g.157201006T>CCA366241460ARID1Bc.4622T>C (p.Met1541Thr)
c.4691T>C (p.Met1564Thr)
c.4910T>C (p.Met1637Thr)
c.4661T>C (p.Met1554Thr)
c.4373T>C (p.Met1458Thr)
c.2939T>C (p.Met980Thr)
c.2102T>C (p.Met701Thr)
c.1733T>C (p.Met578Thr)
n.3244T>C
n.701T>C
c.4781T>C (p.Met1594Thr)
n.2778T>C
c.2149T>C
c.2063T>C
n.1447T>C
c.2123T>C (p.Met708Thr)
c.2282T>C (p.Met761Thr)
c.4412T>C (p.Met1471Thr)
c.4532T>C (p.Met1511Thr)
c.3611T>C (p.Met1204Thr)
c.3431T>C (p.Met1144Thr)
c.3191T>C (p.Met1064Thr)
c.2810T>C (p.Met937Thr)
c.1673T>C (p.Met558Thr)
c.4742T>C (p.Met1581Thr)
c.4643T>C (p.Met1548Thr)
c.4613T>C (p.Met1538Thr)
c.4583T>C (p.Met1528Thr)
c.4454T>C (p.Met1485Thr)
c.4433T>C (p.Met1478Thr)
n.4728T>C
ClinVar dbSNP gnomAD v4
6g.157201006T>GCA366241463ARID1Bc.4622T>G (p.Met1541Arg)
c.4691T>G (p.Met1564Arg)
c.4910T>G (p.Met1637Arg)
c.4661T>G (p.Met1554Arg)
c.4373T>G (p.Met1458Arg)
c.2939T>G (p.Met980Arg)
c.2102T>G (p.Met701Arg)
c.1733T>G (p.Met578Arg)
n.3244T>G
n.701T>G
c.4781T>G (p.Met1594Arg)
n.2778T>G
c.2149T>G
c.2063T>G
n.1447T>G
c.2123T>G (p.Met708Arg)
c.2282T>G (p.Met761Arg)
c.4412T>G (p.Met1471Arg)
c.4532T>G (p.Met1511Arg)
c.3611T>G (p.Met1204Arg)
c.3431T>G (p.Met1144Arg)
c.3191T>G (p.Met1064Arg)
c.2810T>G (p.Met937Arg)
c.1673T>G (p.Met558Arg)
c.4742T>G (p.Met1581Arg)
c.4643T>G (p.Met1548Arg)
c.4613T>G (p.Met1538Arg)
c.4583T>G (p.Met1528Arg)
c.4454T>G (p.Met1485Arg)
c.4433T>G (p.Met1478Arg)
n.4728T>G
dbSNP
6g.157201006T=CA1675522809ARID1Bc.4622T= (p.Met1541=)
c.4691T= (p.Met1564=)
c.4910T= (p.Met1637=)
c.4661T= (p.Met1554=)
c.4373T= (p.Met1458=)
c.2939T= (p.Met980=)
c.2102T= (p.Met701=)
c.1733T= (p.Met578=)
n.3244T=
n.701T=
c.4781T= (p.Met1594=)
n.2778T=
c.2149T=
c.2063T=
n.1447T=
c.2123T= (p.Met708=)
c.2282T= (p.Met761=)
c.4412T= (p.Met1471=)
c.4532T= (p.Met1511=)
c.3611T= (p.Met1204=)
c.3431T= (p.Met1144=)
c.3191T= (p.Met1064=)
c.2810T= (p.Met937=)
c.1673T= (p.Met558=)
c.4742T= (p.Met1581=)
c.4643T= (p.Met1548=)
c.4613T= (p.Met1538=)
c.4583T= (p.Met1528=)
c.4454T= (p.Met1485=)
c.4433T= (p.Met1478=)
n.4728T=
6g.157201007G>ACA366241465ARID1Bc.4623G>A (p.Met1541Ile)
c.4692G>A (p.Met1564Ile)
c.4911G>A (p.Met1637Ile)
c.4662G>A (p.Met1554Ile)
c.4374G>A (p.Met1458Ile)
c.2940G>A (p.Met980Ile)
c.2103G>A (p.Met701Ile)
c.1734G>A (p.Met578Ile)
n.3245G>A
n.702G>A
c.4782G>A (p.Met1594Ile)
n.2779G>A
c.2150G>A
c.2064G>A
n.1448G>A
c.2124G>A (p.Met708Ile)
c.2283G>A (p.Met761Ile)
c.4413G>A (p.Met1471Ile)
c.4533G>A (p.Met1511Ile)
c.3612G>A (p.Met1204Ile)
c.3432G>A (p.Met1144Ile)
c.3192G>A (p.Met1064Ile)
c.2811G>A (p.Met937Ile)
c.1674G>A (p.Met558Ile)
c.4743G>A (p.Met1581Ile)
c.4644G>A (p.Met1548Ile)
c.4614G>A (p.Met1538Ile)
c.4584G>A (p.Met1528Ile)
c.4455G>A (p.Met1485Ile)
c.4434G>A (p.Met1478Ile)
n.4729G>A
gnomAD v4
6g.157201007G>CCA366241467ARID1Bc.4623G>C (p.Met1541Ile)
c.4692G>C (p.Met1564Ile)
c.4911G>C (p.Met1637Ile)
c.4662G>C (p.Met1554Ile)
c.4374G>C (p.Met1458Ile)
c.2940G>C (p.Met980Ile)
c.2103G>C (p.Met701Ile)
c.1734G>C (p.Met578Ile)
n.3245G>C
n.702G>C
c.4782G>C (p.Met1594Ile)
n.2779G>C
c.2150G>C
c.2064G>C
n.1448G>C
c.2124G>C (p.Met708Ile)
c.2283G>C (p.Met761Ile)
c.4413G>C (p.Met1471Ile)
c.4533G>C (p.Met1511Ile)
c.3612G>C (p.Met1204Ile)
c.3432G>C (p.Met1144Ile)
c.3192G>C (p.Met1064Ile)
c.2811G>C (p.Met937Ile)
c.1674G>C (p.Met558Ile)
c.4743G>C (p.Met1581Ile)
c.4644G>C (p.Met1548Ile)
c.4614G>C (p.Met1538Ile)
c.4584G>C (p.Met1528Ile)
c.4455G>C (p.Met1485Ile)
c.4434G>C (p.Met1478Ile)
n.4729G>C
6g.157201007G>TCA366241469ARID1Bc.4623G>T (p.Met1541Ile)
c.4692G>T (p.Met1564Ile)
c.4911G>T (p.Met1637Ile)
c.4662G>T (p.Met1554Ile)
c.4374G>T (p.Met1458Ile)
c.2940G>T (p.Met980Ile)
c.2103G>T (p.Met701Ile)
c.1734G>T (p.Met578Ile)
n.3245G>T
n.702G>T
c.4782G>T (p.Met1594Ile)
n.2779G>T
c.2150G>T
c.2064G>T
n.1448G>T
c.2124G>T (p.Met708Ile)
c.2283G>T (p.Met761Ile)
c.4413G>T (p.Met1471Ile)
c.4533G>T (p.Met1511Ile)
c.3612G>T (p.Met1204Ile)
c.3432G>T (p.Met1144Ile)
c.3192G>T (p.Met1064Ile)
c.2811G>T (p.Met937Ile)
c.1674G>T (p.Met558Ile)
c.4743G>T (p.Met1581Ile)
c.4644G>T (p.Met1548Ile)
c.4614G>T (p.Met1538Ile)
c.4584G>T (p.Met1528Ile)
c.4455G>T (p.Met1485Ile)
c.4434G>T (p.Met1478Ile)
n.4729G>T
6g.157201008C>ACA366241472ARID1Bc.4624C>A (p.Pro1542Thr)
c.4693C>A (p.Pro1565Thr)
c.4912C>A (p.Pro1638Thr)
c.4663C>A (p.Pro1555Thr)
c.4375C>A (p.Pro1459Thr)
c.2941C>A (p.Pro981Thr)
c.2104C>A (p.Pro702Thr)
c.1735C>A (p.Pro579Thr)
n.3246C>A
n.703C>A
c.4783C>A (p.Pro1595Thr)
n.2780C>A
c.2151C>A
c.2065C>A
n.1449C>A
c.2125C>A (p.Pro709Thr)
c.2284C>A (p.Pro762Thr)
c.4414C>A (p.Pro1472Thr)
c.4534C>A (p.Pro1512Thr)
c.3613C>A (p.Pro1205Thr)
c.3433C>A (p.Pro1145Thr)
c.3193C>A (p.Pro1065Thr)
c.2812C>A (p.Pro938Thr)
c.1675C>A (p.Pro559Thr)
c.4744C>A (p.Pro1582Thr)
c.4645C>A (p.Pro1549Thr)
c.4615C>A (p.Pro1539Thr)
c.4585C>A (p.Pro1529Thr)
c.4456C>A (p.Pro1486Thr)
c.4435C>A (p.Pro1479Thr)
n.4730C>A
6g.157201008C>GCA366241473ARID1Bc.4624C>G (p.Pro1542Ala)
c.4693C>G (p.Pro1565Ala)
c.4912C>G (p.Pro1638Ala)
c.4663C>G (p.Pro1555Ala)
c.4375C>G (p.Pro1459Ala)
c.2941C>G (p.Pro981Ala)
c.2104C>G (p.Pro702Ala)
c.1735C>G (p.Pro579Ala)
n.3246C>G
n.703C>G
c.4783C>G (p.Pro1595Ala)
n.2780C>G
c.2151C>G
c.2065C>G
n.1449C>G
c.2125C>G (p.Pro709Ala)
c.2284C>G (p.Pro762Ala)
c.4414C>G (p.Pro1472Ala)
c.4534C>G (p.Pro1512Ala)
c.3613C>G (p.Pro1205Ala)
c.3433C>G (p.Pro1145Ala)
c.3193C>G (p.Pro1065Ala)
c.2812C>G (p.Pro938Ala)
c.1675C>G (p.Pro559Ala)
c.4744C>G (p.Pro1582Ala)
c.4645C>G (p.Pro1549Ala)
c.4615C>G (p.Pro1539Ala)
c.4585C>G (p.Pro1529Ala)
c.4456C>G (p.Pro1486Ala)
c.4435C>G (p.Pro1479Ala)
n.4730C>G
6g.157201008C>TCA366241475ARID1Bc.4624C>T (p.Pro1542Ser)
c.4693C>T (p.Pro1565Ser)
c.4912C>T (p.Pro1638Ser)
c.4663C>T (p.Pro1555Ser)
c.4375C>T (p.Pro1459Ser)
c.2941C>T (p.Pro981Ser)
c.2104C>T (p.Pro702Ser)
c.1735C>T (p.Pro579Ser)
n.3246C>T
n.703C>T
c.4783C>T (p.Pro1595Ser)
n.2780C>T
c.2151C>T
c.2065C>T
n.1449C>T
c.2125C>T (p.Pro709Ser)
c.2284C>T (p.Pro762Ser)
c.4414C>T (p.Pro1472Ser)
c.4534C>T (p.Pro1512Ser)
c.3613C>T (p.Pro1205Ser)
c.3433C>T (p.Pro1145Ser)
c.3193C>T (p.Pro1065Ser)
c.2812C>T (p.Pro938Ser)
c.1675C>T (p.Pro559Ser)
c.4744C>T (p.Pro1582Ser)
c.4645C>T (p.Pro1549Ser)
c.4615C>T (p.Pro1539Ser)
c.4585C>T (p.Pro1529Ser)
c.4456C>T (p.Pro1486Ser)
c.4435C>T (p.Pro1479Ser)
n.4730C>T
dbSNP
6g.157201009C>ACA366241482ARID1Bc.4625C>A (p.Pro1542His)
c.4694C>A (p.Pro1565His)
c.4913C>A (p.Pro1638His)
c.4664C>A (p.Pro1555His)
c.4376C>A (p.Pro1459His)
c.2942C>A (p.Pro981His)
c.2105C>A (p.Pro702His)
c.1736C>A (p.Pro579His)
n.3247C>A
n.704C>A
c.4784C>A (p.Pro1595His)
n.2781C>A
c.2152C>A
c.2066C>A
n.1450C>A
c.2126C>A (p.Pro709His)
c.2285C>A (p.Pro762His)
c.4415C>A (p.Pro1472His)
c.4535C>A (p.Pro1512His)
c.3614C>A (p.Pro1205His)
c.3434C>A (p.Pro1145His)
c.3194C>A (p.Pro1065His)
c.2813C>A (p.Pro938His)
c.1676C>A (p.Pro559His)
c.4745C>A (p.Pro1582His)
c.4646C>A (p.Pro1549His)
c.4616C>A (p.Pro1539His)
c.4586C>A (p.Pro1529His)
c.4457C>A (p.Pro1486His)
c.4436C>A (p.Pro1479His)
n.4731C>A
6g.157201009C>GCA366241478ARID1Bc.4625C>G (p.Pro1542Arg)
c.4694C>G (p.Pro1565Arg)
c.4913C>G (p.Pro1638Arg)
c.4664C>G (p.Pro1555Arg)
c.4376C>G (p.Pro1459Arg)
c.2942C>G (p.Pro981Arg)
c.2105C>G (p.Pro702Arg)
c.1736C>G (p.Pro579Arg)
n.3247C>G
n.704C>G
c.4784C>G (p.Pro1595Arg)
n.2781C>G
c.2152C>G
c.2066C>G
n.1450C>G
c.2126C>G (p.Pro709Arg)
c.2285C>G (p.Pro762Arg)
c.4415C>G (p.Pro1472Arg)
c.4535C>G (p.Pro1512Arg)
c.3614C>G (p.Pro1205Arg)
c.3434C>G (p.Pro1145Arg)
c.3194C>G (p.Pro1065Arg)
c.2813C>G (p.Pro938Arg)
c.1676C>G (p.Pro559Arg)
c.4745C>G (p.Pro1582Arg)
c.4646C>G (p.Pro1549Arg)
c.4616C>G (p.Pro1539Arg)
c.4586C>G (p.Pro1529Arg)
c.4457C>G (p.Pro1486Arg)
c.4436C>G (p.Pro1479Arg)
n.4731C>G
6g.157201009C>TCA366241479ARID1Bc.4625C>T (p.Pro1542Leu)
c.4694C>T (p.Pro1565Leu)
c.4913C>T (p.Pro1638Leu)
c.4664C>T (p.Pro1555Leu)
c.4376C>T (p.Pro1459Leu)
c.2942C>T (p.Pro981Leu)
c.2105C>T (p.Pro702Leu)
c.1736C>T (p.Pro579Leu)
n.3247C>T
n.704C>T
c.4784C>T (p.Pro1595Leu)
n.2781C>T
c.2152C>T
c.2066C>T
n.1450C>T
c.2126C>T (p.Pro709Leu)
c.2285C>T (p.Pro762Leu)
c.4415C>T (p.Pro1472Leu)
c.4535C>T (p.Pro1512Leu)
c.3614C>T (p.Pro1205Leu)
c.3434C>T (p.Pro1145Leu)
c.3194C>T (p.Pro1065Leu)
c.2813C>T (p.Pro938Leu)
c.1676C>T (p.Pro559Leu)
c.4745C>T (p.Pro1582Leu)
c.4646C>T (p.Pro1549Leu)
c.4616C>T (p.Pro1539Leu)
c.4586C>T (p.Pro1529Leu)
c.4457C>T (p.Pro1486Leu)
c.4436C>T (p.Pro1479Leu)
n.4731C>T
6g.157201010T>ACA452978345ARID1Bc.4626T>A (p.Pro1542=)
c.4695T>A (p.Pro1565=)
c.4914T>A (p.Pro1638=)
c.4665T>A (p.Pro1555=)
c.4377T>A (p.Pro1459=)
c.2943T>A (p.Pro981=)
c.2106T>A (p.Pro702=)
c.1737T>A (p.Pro579=)
n.3248T>A
n.705T>A
c.4785T>A (p.Pro1595=)
n.2782T>A
c.2153T>A
c.2067T>A
n.1451T>A
c.2127T>A (p.Pro709=)
c.2286T>A (p.Pro762=)
c.4416T>A (p.Pro1472=)
c.4536T>A (p.Pro1512=)
c.3615T>A (p.Pro1205=)
c.3435T>A (p.Pro1145=)
c.3195T>A (p.Pro1065=)
c.2814T>A (p.Pro938=)
c.1677T>A (p.Pro559=)
c.4746T>A (p.Pro1582=)
c.4647T>A (p.Pro1549=)
c.4617T>A (p.Pro1539=)
c.4587T>A (p.Pro1529=)
c.4458T>A (p.Pro1486=)
c.4437T>A (p.Pro1479=)
n.4732T>A
6g.157201010T>CCA452978346ARID1Bc.4626T>C (p.Pro1542=)
c.4695T>C (p.Pro1565=)
c.4914T>C (p.Pro1638=)
c.4665T>C (p.Pro1555=)
c.4377T>C (p.Pro1459=)
c.2943T>C (p.Pro981=)
c.2106T>C (p.Pro702=)
c.1737T>C (p.Pro579=)
n.3248T>C
n.705T>C
c.4785T>C (p.Pro1595=)
n.2782T>C
c.2153T>C
c.2067T>C
n.1451T>C
c.2127T>C (p.Pro709=)
c.2286T>C (p.Pro762=)
c.4416T>C (p.Pro1472=)
c.4536T>C (p.Pro1512=)
c.3615T>C (p.Pro1205=)
c.3435T>C (p.Pro1145=)
c.3195T>C (p.Pro1065=)
c.2814T>C (p.Pro938=)
c.1677T>C (p.Pro559=)
c.4746T>C (p.Pro1582=)
c.4647T>C (p.Pro1549=)
c.4617T>C (p.Pro1539=)
c.4587T>C (p.Pro1529=)
c.4458T>C (p.Pro1486=)
c.4437T>C (p.Pro1479=)
n.4732T>C
6g.157201010T>GCA452978347ARID1Bc.4626T>G (p.Pro1542=)
c.4695T>G (p.Pro1565=)
c.4914T>G (p.Pro1638=)
c.4665T>G (p.Pro1555=)
c.4377T>G (p.Pro1459=)
c.2943T>G (p.Pro981=)
c.2106T>G (p.Pro702=)
c.1737T>G (p.Pro579=)
n.3248T>G
n.705T>G
c.4785T>G (p.Pro1595=)
n.2782T>G
c.2153T>G
c.2067T>G
n.1451T>G
c.2127T>G (p.Pro709=)
c.2286T>G (p.Pro762=)
c.4416T>G (p.Pro1472=)
c.4536T>G (p.Pro1512=)
c.3615T>G (p.Pro1205=)
c.3435T>G (p.Pro1145=)
c.3195T>G (p.Pro1065=)
c.2814T>G (p.Pro938=)
c.1677T>G (p.Pro559=)
c.4746T>G (p.Pro1582=)
c.4647T>G (p.Pro1549=)
c.4617T>G (p.Pro1539=)
c.4587T>G (p.Pro1529=)
c.4458T>G (p.Pro1486=)
c.4437T>G (p.Pro1479=)
n.4732T>G
ClinVar
6g.157201011T>ACA366241484ARID1Bc.4627T>A (p.Tyr1543Asn)
c.4696T>A (p.Tyr1566Asn)
c.4915T>A (p.Tyr1639Asn)
c.4666T>A (p.Tyr1556Asn)
c.4378T>A (p.Tyr1460Asn)
c.2944T>A (p.Tyr982Asn)
c.2107T>A (p.Tyr703Asn)
c.1738T>A (p.Tyr580Asn)
n.3249T>A
n.706T>A
c.4786T>A (p.Tyr1596Asn)
n.2783T>A
c.2154T>A
c.2068T>A
n.1452T>A
c.2128T>A (p.Tyr710Asn)
c.2287T>A (p.Tyr763Asn)
c.4417T>A (p.Tyr1473Asn)
c.4537T>A (p.Tyr1513Asn)
c.3616T>A (p.Tyr1206Asn)
c.3436T>A (p.Tyr1146Asn)
c.3196T>A (p.Tyr1066Asn)
c.2815T>A (p.Tyr939Asn)
c.1678T>A (p.Tyr560Asn)
c.4747T>A (p.Tyr1583Asn)
c.4648T>A (p.Tyr1550Asn)
c.4618T>A (p.Tyr1540Asn)
c.4588T>A (p.Tyr1530Asn)
c.4459T>A (p.Tyr1487Asn)
c.4438T>A (p.Tyr1480Asn)
n.4733T>A
6g.157201011T>CCA366241486ARID1Bc.4627T>C (p.Tyr1543His)
c.4696T>C (p.Tyr1566His)
c.4915T>C (p.Tyr1639His)
c.4666T>C (p.Tyr1556His)
c.4378T>C (p.Tyr1460His)
c.2944T>C (p.Tyr982His)
c.2107T>C (p.Tyr703His)
c.1738T>C (p.Tyr580His)
n.3249T>C
n.706T>C
c.4786T>C (p.Tyr1596His)
n.2783T>C
c.2154T>C
c.2068T>C
n.1452T>C
c.2128T>C (p.Tyr710His)
c.2287T>C (p.Tyr763His)
c.4417T>C (p.Tyr1473His)
c.4537T>C (p.Tyr1513His)
c.3616T>C (p.Tyr1206His)
c.3436T>C (p.Tyr1146His)
c.3196T>C (p.Tyr1066His)
c.2815T>C (p.Tyr939His)
c.1678T>C (p.Tyr560His)
c.4747T>C (p.Tyr1583His)
c.4648T>C (p.Tyr1550His)
c.4618T>C (p.Tyr1540His)
c.4588T>C (p.Tyr1530His)
c.4459T>C (p.Tyr1487His)
c.4438T>C (p.Tyr1480His)
n.4733T>C
gnomAD v4
6g.157201011T>GCA366241488ARID1Bc.4627T>G (p.Tyr1543Asp)
c.4696T>G (p.Tyr1566Asp)
c.4915T>G (p.Tyr1639Asp)
c.4666T>G (p.Tyr1556Asp)
c.4378T>G (p.Tyr1460Asp)
c.2944T>G (p.Tyr982Asp)
c.2107T>G (p.Tyr703Asp)
c.1738T>G (p.Tyr580Asp)
n.3249T>G
n.706T>G
c.4786T>G (p.Tyr1596Asp)
n.2783T>G
c.2154T>G
c.2068T>G
n.1452T>G
c.2128T>G (p.Tyr710Asp)
c.2287T>G (p.Tyr763Asp)
c.4417T>G (p.Tyr1473Asp)
c.4537T>G (p.Tyr1513Asp)
c.3616T>G (p.Tyr1206Asp)
c.3436T>G (p.Tyr1146Asp)
c.3196T>G (p.Tyr1066Asp)
c.2815T>G (p.Tyr939Asp)
c.1678T>G (p.Tyr560Asp)
c.4747T>G (p.Tyr1583Asp)
c.4648T>G (p.Tyr1550Asp)
c.4618T>G (p.Tyr1540Asp)
c.4588T>G (p.Tyr1530Asp)
c.4459T>G (p.Tyr1487Asp)
c.4438T>G (p.Tyr1480Asp)
n.4733T>G
6g.157201012A>CCA366241491ARID1Bc.4628A>C (p.Tyr1543Ser)
c.4697A>C (p.Tyr1566Ser)
c.4916A>C (p.Tyr1639Ser)
c.4667A>C (p.Tyr1556Ser)
c.4379A>C (p.Tyr1460Ser)
c.2945A>C (p.Tyr982Ser)
c.2108A>C (p.Tyr703Ser)
c.1739A>C (p.Tyr580Ser)
n.3250A>C
n.707A>C
c.4787A>C (p.Tyr1596Ser)
n.2784A>C
c.2155A>C
c.2069A>C
n.1453A>C
c.2129A>C (p.Tyr710Ser)
c.2288A>C (p.Tyr763Ser)
c.4418A>C (p.Tyr1473Ser)
c.4538A>C (p.Tyr1513Ser)
c.3617A>C (p.Tyr1206Ser)
c.3437A>C (p.Tyr1146Ser)
c.3197A>C (p.Tyr1066Ser)
c.2816A>C (p.Tyr939Ser)
c.1679A>C (p.Tyr560Ser)
c.4748A>C (p.Tyr1583Ser)
c.4649A>C (p.Tyr1550Ser)
c.4619A>C (p.Tyr1540Ser)
c.4589A>C (p.Tyr1530Ser)
c.4460A>C (p.Tyr1487Ser)
c.4439A>C (p.Tyr1480Ser)
n.4734A>C
6g.157201012A>GCA366241493ARID1Bc.4628A>G (p.Tyr1543Cys)
c.4697A>G (p.Tyr1566Cys)
c.4916A>G (p.Tyr1639Cys)
c.4667A>G (p.Tyr1556Cys)
c.4379A>G (p.Tyr1460Cys)
c.2945A>G (p.Tyr982Cys)
c.2108A>G (p.Tyr703Cys)
c.1739A>G (p.Tyr580Cys)
n.3250A>G
n.707A>G
c.4787A>G (p.Tyr1596Cys)
n.2784A>G
c.2155A>G
c.2069A>G
n.1453A>G
c.2129A>G (p.Tyr710Cys)
c.2288A>G (p.Tyr763Cys)
c.4418A>G (p.Tyr1473Cys)
c.4538A>G (p.Tyr1513Cys)
c.3617A>G (p.Tyr1206Cys)
c.3437A>G (p.Tyr1146Cys)
c.3197A>G (p.Tyr1066Cys)
c.2816A>G (p.Tyr939Cys)
c.1679A>G (p.Tyr560Cys)
c.4748A>G (p.Tyr1583Cys)
c.4649A>G (p.Tyr1550Cys)
c.4619A>G (p.Tyr1540Cys)
c.4589A>G (p.Tyr1530Cys)
c.4460A>G (p.Tyr1487Cys)
c.4439A>G (p.Tyr1480Cys)
n.4734A>G
6g.157201012A>TCA366241495ARID1Bc.4628A>T (p.Tyr1543Phe)
c.4697A>T (p.Tyr1566Phe)
c.4916A>T (p.Tyr1639Phe)
c.4667A>T (p.Tyr1556Phe)
c.4379A>T (p.Tyr1460Phe)
c.2945A>T (p.Tyr982Phe)
c.2108A>T (p.Tyr703Phe)
c.1739A>T (p.Tyr580Phe)
n.3250A>T
n.707A>T
c.4787A>T (p.Tyr1596Phe)
n.2784A>T
c.2155A>T
c.2069A>T
n.1453A>T
c.2129A>T (p.Tyr710Phe)
c.2288A>T (p.Tyr763Phe)
c.4418A>T (p.Tyr1473Phe)
c.4538A>T (p.Tyr1513Phe)
c.3617A>T (p.Tyr1206Phe)
c.3437A>T (p.Tyr1146Phe)
c.3197A>T (p.Tyr1066Phe)
c.2816A>T (p.Tyr939Phe)
c.1679A>T (p.Tyr560Phe)
c.4748A>T (p.Tyr1583Phe)
c.4649A>T (p.Tyr1550Phe)
c.4619A>T (p.Tyr1540Phe)
c.4589A>T (p.Tyr1530Phe)
c.4460A>T (p.Tyr1487Phe)
c.4439A>T (p.Tyr1480Phe)
n.4734A>T
6g.157201013T>ACA366241499ARID1Bc.4629T>A (p.Tyr1543Ter)
c.4698T>A (p.Tyr1566Ter)
c.4917T>A (p.Tyr1639Ter)
c.4668T>A (p.Tyr1556Ter)
c.4380T>A (p.Tyr1460Ter)
c.2946T>A (p.Tyr982Ter)
c.2109T>A (p.Tyr703Ter)
c.1740T>A (p.Tyr580Ter)
n.3251T>A
n.708T>A
c.4788T>A (p.Tyr1596Ter)
n.2785T>A
c.2156T>A
c.2070T>A
n.1454T>A
c.2130T>A (p.Tyr710Ter)
c.2289T>A (p.Tyr763Ter)
c.4419T>A (p.Tyr1473Ter)
c.4539T>A (p.Tyr1513Ter)
c.3618T>A (p.Tyr1206Ter)
c.3438T>A (p.Tyr1146Ter)
c.3198T>A (p.Tyr1066Ter)
c.2817T>A (p.Tyr939Ter)
c.1680T>A (p.Tyr560Ter)
c.4749T>A (p.Tyr1583Ter)
c.4650T>A (p.Tyr1550Ter)
c.4620T>A (p.Tyr1540Ter)
c.4590T>A (p.Tyr1530Ter)
c.4461T>A (p.Tyr1487Ter)
c.4440T>A (p.Tyr1480Ter)
n.4735T>A
6g.157201013T>CCA452978349ARID1Bc.4629T>C (p.Tyr1543=)
c.4698T>C (p.Tyr1566=)
c.4917T>C (p.Tyr1639=)
c.4668T>C (p.Tyr1556=)
c.4380T>C (p.Tyr1460=)
c.2946T>C (p.Tyr982=)
c.2109T>C (p.Tyr703=)
c.1740T>C (p.Tyr580=)
n.3251T>C
n.708T>C
c.4788T>C (p.Tyr1596=)
n.2785T>C
c.2156T>C
c.2070T>C
n.1454T>C
c.2130T>C (p.Tyr710=)
c.2289T>C (p.Tyr763=)
c.4419T>C (p.Tyr1473=)
c.4539T>C (p.Tyr1513=)
c.3618T>C (p.Tyr1206=)
c.3438T>C (p.Tyr1146=)
c.3198T>C (p.Tyr1066=)
c.2817T>C (p.Tyr939=)
c.1680T>C (p.Tyr560=)
c.4749T>C (p.Tyr1583=)
c.4650T>C (p.Tyr1550=)
c.4620T>C (p.Tyr1540=)
c.4590T>C (p.Tyr1530=)
c.4461T>C (p.Tyr1487=)
c.4440T>C (p.Tyr1480=)
n.4735T>C
gnomAD v4
6g.157201013T>GCA366241498ARID1Bc.4629T>G (p.Tyr1543Ter)
c.4698T>G (p.Tyr1566Ter)
c.4917T>G (p.Tyr1639Ter)
c.4668T>G (p.Tyr1556Ter)
c.4380T>G (p.Tyr1460Ter)
c.2946T>G (p.Tyr982Ter)
c.2109T>G (p.Tyr703Ter)
c.1740T>G (p.Tyr580Ter)
n.3251T>G
n.708T>G
c.4788T>G (p.Tyr1596Ter)
n.2785T>G
c.2156T>G
c.2070T>G
n.1454T>G
c.2130T>G (p.Tyr710Ter)
c.2289T>G (p.Tyr763Ter)
c.4419T>G (p.Tyr1473Ter)
c.4539T>G (p.Tyr1513Ter)
c.3618T>G (p.Tyr1206Ter)
c.3438T>G (p.Tyr1146Ter)
c.3198T>G (p.Tyr1066Ter)
c.2817T>G (p.Tyr939Ter)
c.1680T>G (p.Tyr560Ter)
c.4749T>G (p.Tyr1583Ter)
c.4650T>G (p.Tyr1550Ter)
c.4620T>G (p.Tyr1540Ter)
c.4590T>G (p.Tyr1530Ter)
c.4461T>G (p.Tyr1487Ter)
c.4440T>G (p.Tyr1480Ter)
n.4735T>G
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

Number of alleles fetched