Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.45852568A=CA2033475676ARID2c.4445A= (p.Gln1482=)
c.654A=
c.4366A=
c.3998A= (p.Gln1333=)
c.3275A= (p.Gln1092=)
c.269A= (p.Gln90=)
n.3736A=
c.2813A= (p.Gln938=)
n.4593A=
n.4576A=
12g.45852568A>CCA384491720ARID2c.4445A>C (p.Gln1482Pro)
c.654A>C
c.4366A>C
c.3998A>C (p.Gln1333Pro)
c.3275A>C (p.Gln1092Pro)
c.269A>C (p.Gln90Pro)
n.3736A>C
c.2813A>C (p.Gln938Pro)
n.4593A>C
n.4576A>C
12g.45852568A>GCA384491722ARID2c.4445A>G (p.Gln1482Arg)
c.654A>G
c.4366A>G
c.3998A>G (p.Gln1333Arg)
c.3275A>G (p.Gln1092Arg)
c.269A>G (p.Gln90Arg)
n.3736A>G
c.2813A>G (p.Gln938Arg)
n.4593A>G
n.4576A>G
dbSNP
12g.45852568A>TCA384491724ARID2c.4445A>T (p.Gln1482Leu)
c.654A>T
c.4366A>T
c.3998A>T (p.Gln1333Leu)
c.3275A>T (p.Gln1092Leu)
c.269A>T (p.Gln90Leu)
n.3736A>T
c.2813A>T (p.Gln938Leu)
n.4593A>T
n.4576A>T
dbSNP
12g.45852568_45852569insGCA604811920ARID2c.4445_4446insG (p.Ile1483AsnfsTer20)
c.654_655insG
c.4366_4367insG
c.3998_3999insG (p.Ile1334AsnfsTer20)
c.3275_3276insG (p.Ile1093AsnfsTer20)
c.269_270insG (p.Ile91AsnfsTer20)
n.3736_3737insG
c.2813_2814insG (p.Ile939AsnfsTer20)
n.4593_4594insG
n.4576_4577insG
dbSNP gnomAD v2
12g.45852569A=CA2033475677ARID2c.4446A= (p.Gln1482=)
c.655A=
c.4367A=
c.3999A= (p.Gln1333=)
c.3276A= (p.Gln1092=)
c.270A= (p.Gln90=)
n.3737A=
c.2814A= (p.Gln938=)
n.4594A=
n.4577A=
12g.45852569A>CCA384491726ARID2c.4446A>C (p.Gln1482His)
c.655A>C
c.4367A>C
c.3999A>C (p.Gln1333His)
c.3276A>C (p.Gln1092His)
c.270A>C (p.Gln90His)
n.3737A>C
c.2814A>C (p.Gln938His)
n.4594A>C
n.4577A>C
COSMIC
12g.45852569A>GCA479693826ARID2c.4446A>G (p.Gln1482=)
c.655A>G
c.4367A>G
c.3999A>G (p.Gln1333=)
c.3276A>G (p.Gln1092=)
c.270A>G (p.Gln90=)
n.3737A>G
c.2814A>G (p.Gln938=)
n.4594A>G
n.4577A>G
dbSNP gnomAD v4
12g.45852569A>TCA384491728ARID2c.4446A>T (p.Gln1482His)
c.655A>T
c.4367A>T
c.3999A>T (p.Gln1333His)
c.3276A>T (p.Gln1092His)
c.270A>T (p.Gln90His)
n.3737A>T
c.2814A>T (p.Gln938His)
n.4594A>T
n.4577A>T
dbSNP
12g.45852570A=CA2033475678ARID2c.4447A= (p.Ile1483=)
c.656A=
c.4368A=
c.4000A= (p.Ile1334=)
c.3277A= (p.Ile1093=)
c.271A= (p.Ile91=)
n.3738A=
c.2815A= (p.Ile939=)
n.4595A=
n.4578A=
12g.45852570A>CCA384491733ARID2c.4447A>C (p.Ile1483Leu)
c.656A>C
c.4368A>C
c.4000A>C (p.Ile1334Leu)
c.3277A>C (p.Ile1093Leu)
c.271A>C (p.Ile91Leu)
n.3738A>C
c.2815A>C (p.Ile939Leu)
n.4595A>C
n.4578A>C
12g.45852570A>GCA384491734ARID2c.4447A>G (p.Ile1483Val)
c.656A>G
c.4368A>G
c.4000A>G (p.Ile1334Val)
c.3277A>G (p.Ile1093Val)
c.271A>G (p.Ile91Val)
n.3738A>G
c.2815A>G (p.Ile939Val)
n.4595A>G
n.4578A>G
dbSNP gnomAD v2 gnomAD v4
12g.45852570A>TCA384491736ARID2c.4447A>T (p.Ile1483Phe)
c.656A>T
c.4368A>T
c.4000A>T (p.Ile1334Phe)
c.3277A>T (p.Ile1093Phe)
c.271A>T (p.Ile91Phe)
n.3738A>T
c.2815A>T (p.Ile939Phe)
n.4595A>T
n.4578A>T
dbSNP
12g.45852570_45852571insATTCTTTCTAGTTGACA604811921ARID2c.4447_4448insATTCTTTCTAGTTGA (p.Ile1483AsnfsTer4)
c.656_657insATTCTTTCTAGTTGA
c.4368_4369insATTCTTTCTAGTTGA
c.4000_4001insATTCTTTCTAGTTGA (p.Ile1334AsnfsTer4)
c.3277_3278insATTCTTTCTAGTTGA (p.Ile1093AsnfsTer4)
c.271_272insATTCTTTCTAGTTGA (p.Ile91AsnfsTer4)
n.3738_3739insATTCTTTCTAGTTGA
c.2815_2816insATTCTTTCTAGTTGA (p.Ile939AsnfsTer4)
n.4595_4596insATTCTTTCTAGTTGA
n.4578_4579insATTCTTTCTAGTTGA
dbSNP gnomAD v2
12g.45852570_45852571insATTCTTCA2033475679ARID2c.4447_4448insATTCTT (p.Ile1483delinsAsnSerPhe)
c.656_657insATTCTT
c.4368_4369insATTCTT
c.4000_4001insATTCTT (p.Ile1334delinsAsnSerPhe)
c.3277_3278insATTCTT (p.Ile1093delinsAsnSerPhe)
c.271_272insATTCTT (p.Ile91delinsAsnSerPhe)
n.3738_3739insATTCTT
c.2815_2816insATTCTT (p.Ile939delinsAsnSerPhe)
n.4595_4596insATTCTT
n.4578_4579insATTCTT
dbSNP
12g.45852571T>ACA384491739ARID2c.4448T>A (p.Ile1483Asn)
c.657T>A
c.4369T>A
c.4001T>A (p.Ile1334Asn)
c.3278T>A (p.Ile1093Asn)
c.272T>A (p.Ile91Asn)
n.3739T>A
c.2816T>A (p.Ile939Asn)
n.4596T>A
n.4579T>A
dbSNP
12g.45852571T>CCA6526662ARID2c.4448T>C (p.Ile1483Thr)
c.657T>C
c.4369T>C
c.4001T>C (p.Ile1334Thr)
c.3278T>C (p.Ile1093Thr)
c.272T>C (p.Ile91Thr)
n.3739T>C
c.2816T>C (p.Ile939Thr)
n.4596T>C
n.4579T>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.45852571T>GCA384491742ARID2c.4448T>G (p.Ile1483Ser)
c.657T>G
c.4369T>G
c.4001T>G (p.Ile1334Ser)
c.3278T>G (p.Ile1093Ser)
c.272T>G (p.Ile91Ser)
n.3739T>G
c.2816T>G (p.Ile939Ser)
n.4596T>G
n.4579T>G
dbSNP
12g.45852571T=CA2033475680ARID2c.4448T= (p.Ile1483=)
c.657T=
c.4369T=
c.4001T= (p.Ile1334=)
c.3278T= (p.Ile1093=)
c.272T= (p.Ile91=)
n.3739T=
c.2816T= (p.Ile939=)
n.4596T=
n.4579T=
12g.45852572C>ACA479693827ARID2c.4449C>A (p.Ile1483=)
c.658C>A
c.4370C>A
c.4002C>A (p.Ile1334=)
c.3279C>A (p.Ile1093=)
c.273C>A (p.Ile91=)
n.3740C>A
c.2817C>A (p.Ile939=)
n.4597C>A
n.4580C>A
dbSNP
12g.45852572C>GCA384491745ARID2c.4449C>G (p.Ile1483Met)
c.658C>G
c.4370C>G
c.4002C>G (p.Ile1334Met)
c.3279C>G (p.Ile1093Met)
c.273C>G (p.Ile91Met)
n.3740C>G
c.2817C>G (p.Ile939Met)
n.4597C>G
n.4580C>G
dbSNP
12g.45852572C>TCA479693828ARID2c.4449C>T (p.Ile1483=)
c.658C>T
c.4370C>T
c.4002C>T (p.Ile1334=)
c.3279C>T (p.Ile1093=)
c.273C>T (p.Ile91=)
n.3740C>T
c.2817C>T (p.Ile939=)
n.4597C>T
n.4580C>T
dbSNP
12g.45852573A=CA2033475681ARID2c.4450A= (p.Ile1484=)
c.659A=
c.4371A=
c.4003A= (p.Ile1335=)
c.3280A= (p.Ile1094=)
c.274A= (p.Ile92=)
n.3741A=
c.2818A= (p.Ile940=)
n.4598A=
n.4581A=
12g.45852573A>CCA384491748ARID2c.4450A>C (p.Ile1484Leu)
c.659A>C
c.4371A>C
c.4003A>C (p.Ile1335Leu)
c.3280A>C (p.Ile1094Leu)
c.274A>C (p.Ile92Leu)
n.3741A>C
c.2818A>C (p.Ile940Leu)
n.4598A>C
n.4581A>C
dbSNP
12g.45852573A>GCA6526664ARID2c.4450A>G (p.Ile1484Val)
c.659A>G
c.4371A>G
c.4003A>G (p.Ile1335Val)
c.3280A>G (p.Ile1094Val)
c.274A>G (p.Ile92Val)
n.3741A>G
c.2818A>G (p.Ile940Val)
n.4598A>G
n.4581A>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.45852573A>TCA6526663ARID2c.4450A>T (p.Ile1484Leu)
c.659A>T
c.4371A>T
c.4003A>T (p.Ile1335Leu)
c.3280A>T (p.Ile1094Leu)
c.274A>T (p.Ile92Leu)
n.3741A>T
c.2818A>T (p.Ile940Leu)
n.4598A>T
n.4581A>T
dbSNP ExAC gnomAD v2 gnomAD v4
12g.45852574T>ACA236400748ARID2c.4451T>A (p.Ile1484Lys)
c.660T>A
c.4372T>A
c.4004T>A (p.Ile1335Lys)
c.3281T>A (p.Ile1094Lys)
c.275T>A (p.Ile92Lys)
n.3742T>A
c.2819T>A (p.Ile940Lys)
n.4599T>A
n.4582T>A
dbSNP
12g.45852574T>CCA6526665ARID2c.4451T>C (p.Ile1484Thr)
c.660T>C
c.4372T>C
c.4004T>C (p.Ile1335Thr)
c.3281T>C (p.Ile1094Thr)
c.275T>C (p.Ile92Thr)
n.3742T>C
c.2819T>C (p.Ile940Thr)
n.4599T>C
n.4582T>C
dbSNP ExAC gnomAD v2 gnomAD v4
12g.45852574T>GCA384491755ARID2c.4451T>G (p.Ile1484Arg)
c.660T>G
c.4372T>G
c.4004T>G (p.Ile1335Arg)
c.3281T>G (p.Ile1094Arg)
c.275T>G (p.Ile92Arg)
n.3742T>G
c.2819T>G (p.Ile940Arg)
n.4599T>G
n.4582T>G
12g.45852574T=CA2033475682ARID2c.4451T= (p.Ile1484=)
c.660T=
c.4372T=
c.4004T= (p.Ile1335=)
c.3281T= (p.Ile1094=)
c.275T= (p.Ile92=)
n.3742T=
c.2819T= (p.Ile940=)
n.4599T=
n.4582T=
12g.45852575A>CCA479693829ARID2c.4452A>C (p.Ile1484=)
c.661A>C
c.4373A>C
c.4005A>C (p.Ile1335=)
c.3282A>C (p.Ile1094=)
c.276A>C (p.Ile92=)
n.3743A>C
c.2820A>C (p.Ile940=)
n.4600A>C
n.4583A>C
12g.45852575A>GCA384491759ARID2c.4452A>G (p.Ile1484Met)
c.661A>G
c.4373A>G
c.4005A>G (p.Ile1335Met)
c.3282A>G (p.Ile1094Met)
c.276A>G (p.Ile92Met)
n.3743A>G
c.2820A>G (p.Ile940Met)
n.4600A>G
n.4583A>G
dbSNP gnomAD v4
12g.45852575A>TCA479693830ARID2c.4452A>T (p.Ile1484=)
c.661A>T
c.4373A>T
c.4005A>T (p.Ile1335=)
c.3282A>T (p.Ile1094=)
c.276A>T (p.Ile92=)
n.3743A>T
c.2820A>T (p.Ile940=)
n.4600A>T
n.4583A>T
dbSNP gnomAD v4
12g.45852576G>ACA384491762ARID2c.4453G>A (p.Ala1485Thr)
c.662G>A
c.4374G>A
c.4006G>A (p.Ala1336Thr)
c.3283G>A (p.Ala1095Thr)
c.277G>A (p.Ala93Thr)
n.3744G>A
c.2821G>A (p.Ala941Thr)
n.4601G>A
n.4584G>A
dbSNP
12g.45852576G>CCA384491764ARID2c.4453G>C (p.Ala1485Pro)
c.662G>C
c.4374G>C
c.4006G>C (p.Ala1336Pro)
c.3283G>C (p.Ala1095Pro)
c.277G>C (p.Ala93Pro)
n.3744G>C
c.2821G>C (p.Ala941Pro)
n.4601G>C
n.4584G>C
dbSNP
12g.45852576G>TCA384491765ARID2c.4453G>T (p.Ala1485Ser)
c.662G>T
c.4374G>T
c.4006G>T (p.Ala1336Ser)
c.3283G>T (p.Ala1095Ser)
c.277G>T (p.Ala93Ser)
n.3744G>T
c.2821G>T (p.Ala941Ser)
n.4601G>T
n.4584G>T
dbSNP
12g.45852577C>ACA384491766ARID2c.4454C>A (p.Ala1485Glu)
c.663C>A
c.4375C>A
c.4007C>A (p.Ala1336Glu)
c.3284C>A (p.Ala1095Glu)
c.278C>A (p.Ala93Glu)
n.3745C>A
c.2822C>A (p.Ala941Glu)
n.4602C>A
n.4585C>A
12g.45852577C=CA2033475683ARID2c.4454C= (p.Ala1485=)
c.663C=
c.4375C=
c.4007C= (p.Ala1336=)
c.3284C= (p.Ala1095=)
c.278C= (p.Ala93=)
n.3745C=
c.2822C= (p.Ala941=)
n.4602C=
n.4585C=
12g.45852577C>GCA384491767ARID2c.4454C>G (p.Ala1485Gly)
c.663C>G
c.4375C>G
c.4007C>G (p.Ala1336Gly)
c.3284C>G (p.Ala1095Gly)
c.278C>G (p.Ala93Gly)
n.3745C>G
c.2822C>G (p.Ala941Gly)
n.4602C>G
n.4585C>G
12g.45852577C>TCA384491768ARID2c.4454C>T (p.Ala1485Val)
c.663C>T
c.4375C>T
c.4007C>T (p.Ala1336Val)
c.3284C>T (p.Ala1095Val)
c.278C>T (p.Ala93Val)
n.3745C>T
c.2822C>T (p.Ala941Val)
n.4602C>T
n.4585C>T
dbSNP gnomAD v2
12g.45852578A>CCA479693831ARID2c.4455A>C (p.Ala1485=)
c.664A>C
c.4376A>C
c.4008A>C (p.Ala1336=)
c.3285A>C (p.Ala1095=)
c.279A>C (p.Ala93=)
n.3746A>C
c.2823A>C (p.Ala941=)
n.4603A>C
n.4586A>C
12g.45852578A>GCA479693832ARID2c.4455A>G (p.Ala1485=)
c.664A>G
c.4376A>G
c.4008A>G (p.Ala1336=)
c.3285A>G (p.Ala1095=)
c.279A>G (p.Ala93=)
n.3746A>G
c.2823A>G (p.Ala941=)
n.4603A>G
n.4586A>G
dbSNP
12g.45852578A>TCA479693833ARID2c.4455A>T (p.Ala1485=)
c.664A>T
c.4376A>T
c.4008A>T (p.Ala1336=)
c.3285A>T (p.Ala1095=)
c.279A>T (p.Ala93=)
n.3746A>T
c.2823A>T (p.Ala941=)
n.4603A>T
n.4586A>T
dbSNP
12g.45852579G>ACA384491769ARID2c.4456G>A (p.Val1486Ile)
c.665G>A
c.4377G>A
c.4009G>A (p.Val1337Ile)
c.3286G>A (p.Val1096Ile)
c.280G>A (p.Val94Ile)
n.3747G>A
c.2824G>A (p.Val942Ile)
n.4604G>A
n.4587G>A
dbSNP
12g.45852579G>CCA384491770ARID2c.4456G>C (p.Val1486Leu)
c.665G>C
c.4377G>C
c.4009G>C (p.Val1337Leu)
c.3286G>C (p.Val1096Leu)
c.280G>C (p.Val94Leu)
n.3747G>C
c.2824G>C (p.Val942Leu)
n.4604G>C
n.4587G>C
dbSNP
12g.45852579G>TCA384491771ARID2c.4456G>T (p.Val1486Phe)
c.665G>T
c.4377G>T
c.4009G>T (p.Val1337Phe)
c.3286G>T (p.Val1096Phe)
c.280G>T (p.Val94Phe)
n.3747G>T
c.2824G>T (p.Val942Phe)
n.4604G>T
n.4587G>T
12g.45852580T>ACA384491772ARID2c.4457T>A (p.Val1486Asp)
c.666T>A
c.4378T>A
c.4010T>A (p.Val1337Asp)
c.3287T>A (p.Val1096Asp)
c.281T>A (p.Val94Asp)
n.3748T>A
c.2825T>A (p.Val942Asp)
n.4605T>A
n.4588T>A
dbSNP
12g.45852580T>CCA384491773ARID2c.4457T>C (p.Val1486Ala)
c.666T>C
c.4378T>C
c.4010T>C (p.Val1337Ala)
c.3287T>C (p.Val1096Ala)
c.281T>C (p.Val94Ala)
n.3748T>C
c.2825T>C (p.Val942Ala)
n.4605T>C
n.4588T>C
dbSNP
12g.45852580T>GCA384491774ARID2c.4457T>G (p.Val1486Gly)
c.666T>G
c.4378T>G
c.4010T>G (p.Val1337Gly)
c.3287T>G (p.Val1096Gly)
c.281T>G (p.Val94Gly)
n.3748T>G
c.2825T>G (p.Val942Gly)
n.4605T>G
n.4588T>G
dbSNP
12g.45852581T>ACA479693835ARID2c.4458T>A (p.Val1486=)
c.667T>A
c.4379T>A
c.4011T>A (p.Val1337=)
c.3288T>A (p.Val1096=)
c.282T>A (p.Val94=)
n.3749T>A
c.2826T>A (p.Val942=)
n.4606T>A
n.4589T>A
12g.45852581T>CCA479693836ARID2c.4458T>C (p.Val1486=)
c.667T>C
c.4379T>C
c.4011T>C (p.Val1337=)
c.3288T>C (p.Val1096=)
c.282T>C (p.Val94=)
n.3749T>C
c.2826T>C (p.Val942=)
n.4606T>C
n.4589T>C
12g.45852581T>GCA479693834ARID2c.4458T>G (p.Val1486=)
c.667T>G
c.4379T>G
c.4011T>G (p.Val1337=)
c.3288T>G (p.Val1096=)
c.282T>G (p.Val94=)
n.3749T>G
c.2826T>G (p.Val942=)
n.4606T>G
n.4589T>G
12g.45852582C>ACA384491777ARID2c.4459C>A (p.Pro1487Thr)
c.668C>A
c.4380C>A
c.4012C>A (p.Pro1338Thr)
c.3289C>A (p.Pro1097Thr)
c.283C>A (p.Pro95Thr)
n.3750C>A
c.2827C>A (p.Pro943Thr)
n.4607C>A
n.4590C>A
dbSNP COSMIC
12g.45852582C>GCA384491775ARID2c.4459C>G (p.Pro1487Ala)
c.668C>G
c.4380C>G
c.4012C>G (p.Pro1338Ala)
c.3289C>G (p.Pro1097Ala)
c.283C>G (p.Pro95Ala)
n.3750C>G
c.2827C>G (p.Pro943Ala)
n.4607C>G
n.4590C>G
dbSNP
12g.45852582C>TCA384491776ARID2c.4459C>T (p.Pro1487Ser)
c.668C>T
c.4380C>T
c.4012C>T (p.Pro1338Ser)
c.3289C>T (p.Pro1097Ser)
c.283C>T (p.Pro95Ser)
n.3750C>T
c.2827C>T (p.Pro943Ser)
n.4607C>T
n.4590C>T
dbSNP gnomAD v4
12g.45852583C>ACA384491778ARID2c.4460C>A (p.Pro1487His)
c.669C>A
c.4381C>A
c.4013C>A (p.Pro1338His)
c.3290C>A (p.Pro1097His)
c.284C>A (p.Pro95His)
n.3751C>A
c.2828C>A (p.Pro943His)
n.4608C>A
n.4591C>A
dbSNP
12g.45852583C>GCA384491779ARID2c.4460C>G (p.Pro1487Arg)
c.669C>G
c.4381C>G
c.4013C>G (p.Pro1338Arg)
c.3290C>G (p.Pro1097Arg)
c.284C>G (p.Pro95Arg)
n.3751C>G
c.2828C>G (p.Pro943Arg)
n.4608C>G
n.4591C>G
dbSNP
12g.45852583C>TCA384491780ARID2c.4460C>T (p.Pro1487Leu)
c.669C>T
c.4381C>T
c.4013C>T (p.Pro1338Leu)
c.3290C>T (p.Pro1097Leu)
c.284C>T (p.Pro95Leu)
n.3751C>T
c.2828C>T (p.Pro943Leu)
n.4608C>T
n.4591C>T
dbSNP COSMIC
12g.45852584C>ACA479693837ARID2c.4461C>A (p.Pro1487=)
c.670C>A
c.4382C>A
c.4014C>A (p.Pro1338=)
c.3291C>A (p.Pro1097=)
c.285C>A (p.Pro95=)
n.3752C>A
c.2829C>A (p.Pro943=)
n.4609C>A
n.4592C>A
dbSNP
12g.45852584C=CA2033475684ARID2c.4461C= (p.Pro1487=)
c.670C=
c.4382C=
c.4014C= (p.Pro1338=)
c.3291C= (p.Pro1097=)
c.285C= (p.Pro95=)
n.3752C=
c.2829C= (p.Pro943=)
n.4609C=
n.4592C=
12g.45852584C>GCA236400753ARID2c.4461C>G (p.Pro1487=)
c.670C>G
c.4382C>G
c.4014C>G (p.Pro1338=)
c.3291C>G (p.Pro1097=)
c.285C>G (p.Pro95=)
n.3752C>G
c.2829C>G (p.Pro943=)
n.4609C>G
n.4592C>G
dbSNP gnomAD v4
12g.45852584C>TCA6526666ARID2c.4461C>T (p.Pro1487=)
c.670C>T
c.4382C>T
c.4014C>T (p.Pro1338=)
c.3291C>T (p.Pro1097=)
c.285C>T (p.Pro95=)
n.3752C>T
c.2829C>T (p.Pro943=)
n.4609C>T
n.4592C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.45852585G>ACA6526667ARID2c.4462G>A (p.Asp1488Asn)
c.671G>A
c.4383G>A
c.4015G>A (p.Asp1339Asn)
c.3292G>A (p.Asp1098Asn)
c.286G>A (p.Asp96Asn)
n.3753G>A
c.2830G>A (p.Asp944Asn)
n.4610G>A
n.4593G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.45852585G>CCA384491781ARID2c.4462G>C (p.Asp1488His)
c.671G>C
c.4383G>C
c.4015G>C (p.Asp1339His)
c.3292G>C (p.Asp1098His)
c.286G>C (p.Asp96His)
n.3753G>C
c.2830G>C (p.Asp944His)
n.4610G>C
n.4593G>C
dbSNP
12g.45852585G=CA2033475685ARID2c.4462G= (p.Asp1488=)
c.671G=
c.4383G=
c.4015G= (p.Asp1339=)
c.3292G= (p.Asp1098=)
c.286G= (p.Asp96=)
n.3753G=
c.2830G= (p.Asp944=)
n.4610G=
n.4593G=
12g.45852585G>TCA384491782ARID2c.4462G>T (p.Asp1488Tyr)
c.671G>T
c.4383G>T
c.4015G>T (p.Asp1339Tyr)
c.3292G>T (p.Asp1098Tyr)
c.286G>T (p.Asp96Tyr)
n.3753G>T
c.2830G>T (p.Asp944Tyr)
n.4610G>T
n.4593G>T
dbSNP
12g.45852586A>CCA384491783ARID2c.4463A>C (p.Asp1488Ala)
c.672A>C
c.4384A>C
c.4016A>C (p.Asp1339Ala)
c.3293A>C (p.Asp1098Ala)
c.287A>C (p.Asp96Ala)
n.3754A>C
c.2831A>C (p.Asp944Ala)
n.4611A>C
n.4594A>C
dbSNP
12g.45852586A>GCA384491784ARID2c.4463A>G (p.Asp1488Gly)
c.672A>G
c.4384A>G
c.4016A>G (p.Asp1339Gly)
c.3293A>G (p.Asp1098Gly)
c.287A>G (p.Asp96Gly)
n.3754A>G
c.2831A>G (p.Asp944Gly)
n.4611A>G
n.4594A>G
dbSNP
12g.45852586A>TCA384491785ARID2c.4463A>T (p.Asp1488Val)
c.672A>T
c.4384A>T
c.4016A>T (p.Asp1339Val)
c.3293A>T (p.Asp1098Val)
c.287A>T (p.Asp96Val)
n.3754A>T
c.2831A>T (p.Asp944Val)
n.4611A>T
n.4594A>T
dbSNP
12g.45852587_45852599delCA645571099ARID2c.4464_4476del (p.Asp1488GlufsTer24)
c.673_685del
c.4385_4397del
c.4017_4029del (p.Asp1339GlufsTer24)
c.3294_3306del (p.Asp1098GlufsTer24)
c.288_300del (p.Asp96GlufsTer24)
n.3755_3767del
c.2832_2844del (p.Asp944GlufsTer24)
n.4612_4624del
n.4595_4607del
COSMIC
12g.45852587C>ACA384491786ARID2c.4464C>A (p.Asp1488Glu)
c.673C>A
c.4385C>A
c.4017C>A (p.Asp1339Glu)
c.3294C>A (p.Asp1098Glu)
c.288C>A (p.Asp96Glu)
n.3755C>A
c.2832C>A (p.Asp944Glu)
n.4612C>A
n.4595C>A
12g.45852587C=CA2033475686ARID2c.4464C= (p.Asp1488=)
c.673C=
c.4385C=
c.4017C= (p.Asp1339=)
c.3294C= (p.Asp1098=)
c.288C= (p.Asp96=)
n.3755C=
c.2832C= (p.Asp944=)
n.4612C=
n.4595C=
12g.45852587C>GCA384491787ARID2c.4464C>G (p.Asp1488Glu)
c.673C>G
c.4385C>G
c.4017C>G (p.Asp1339Glu)
c.3294C>G (p.Asp1098Glu)
c.288C>G (p.Asp96Glu)
n.3755C>G
c.2832C>G (p.Asp944Glu)
n.4612C>G
n.4595C>G
12g.45852587C>TCA479693838ARID2c.4464C>T (p.Asp1488=)
c.673C>T
c.4385C>T
c.4017C>T (p.Asp1339=)
c.3294C>T (p.Asp1098=)
c.288C>T (p.Asp96=)
n.3755C>T
c.2832C>T (p.Asp944=)
n.4612C>T
n.4595C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.45852588T>ACA384491788ARID2c.4465T>A (p.Ser1489Thr)
c.674T>A
c.4386T>A
c.4018T>A (p.Ser1340Thr)
c.3295T>A (p.Ser1099Thr)
c.289T>A (p.Ser97Thr)
n.3756T>A
c.2833T>A (p.Ser945Thr)
n.4613T>A
n.4596T>A
12g.45852588T>CCA384491790ARID2c.4465T>C (p.Ser1489Pro)
c.674T>C
c.4386T>C
c.4018T>C (p.Ser1340Pro)
c.3295T>C (p.Ser1099Pro)
c.289T>C (p.Ser97Pro)
n.3756T>C
c.2833T>C (p.Ser945Pro)
n.4613T>C
n.4596T>C
12g.45852588T>GCA384491789ARID2c.4465T>G (p.Ser1489Ala)
c.674T>G
c.4386T>G
c.4018T>G (p.Ser1340Ala)
c.3295T>G (p.Ser1099Ala)
c.289T>G (p.Ser97Ala)
n.3756T>G
c.2833T>G (p.Ser945Ala)
n.4613T>G
n.4596T>G
dbSNP
12g.45852589C>ACA384491791ARID2c.4466C>A (p.Ser1489Ter)
c.675C>A
c.4387C>A
c.4019C>A (p.Ser1340Ter)
c.3296C>A (p.Ser1099Ter)
c.290C>A (p.Ser97Ter)
n.3757C>A
c.2834C>A (p.Ser945Ter)
n.4614C>A
n.4597C>A
12g.45852589C=CA2033475687ARID2c.4466C= (p.Ser1489=)
c.675C=
c.4387C=
c.4019C= (p.Ser1340=)
c.3296C= (p.Ser1099=)
c.290C= (p.Ser97=)
n.3757C=
c.2834C= (p.Ser945=)
n.4614C=
n.4597C=
12g.45852589C>GCA384491792ARID2c.4466C>G (p.Ser1489Ter)
c.675C>G
c.4387C>G
c.4019C>G (p.Ser1340Ter)
c.3296C>G (p.Ser1099Ter)
c.290C>G (p.Ser97Ter)
n.3757C>G
c.2834C>G (p.Ser945Ter)
n.4614C>G
n.4597C>G
dbSNP COSMIC
12g.45852589C>TCA384491793ARID2c.4466C>T (p.Ser1489Leu)
c.675C>T
c.4387C>T
c.4019C>T (p.Ser1340Leu)
c.3296C>T (p.Ser1099Leu)
c.290C>T (p.Ser97Leu)
n.3757C>T
c.2834C>T (p.Ser945Leu)
n.4614C>T
n.4597C>T
dbSNP
12g.45852590A>CCA479693839ARID2c.4467A>C (p.Ser1489=)
c.676A>C
c.4388A>C
c.4020A>C (p.Ser1340=)
c.3297A>C (p.Ser1099=)
c.291A>C (p.Ser97=)
n.3758A>C
c.2835A>C (p.Ser945=)
n.4615A>C
n.4598A>C
dbSNP
12g.45852590A>GCA479693840ARID2c.4467A>G (p.Ser1489=)
c.676A>G
c.4388A>G
c.4020A>G (p.Ser1340=)
c.3297A>G (p.Ser1099=)
c.291A>G (p.Ser97=)
n.3758A>G
c.2835A>G (p.Ser945=)
n.4615A>G
n.4598A>G
dbSNP gnomAD v4
12g.45852590A>TCA479693841ARID2c.4467A>T (p.Ser1489=)
c.676A>T
c.4388A>T
c.4020A>T (p.Ser1340=)
c.3297A>T (p.Ser1099=)
c.291A>T (p.Ser97=)
n.3758A>T
c.2835A>T (p.Ser945=)
n.4615A>T
n.4598A>T
dbSNP
12g.45852591G>ACA384491794ARID2c.4468G>A (p.Gly1490Arg)
c.677G>A
c.4389G>A
c.4021G>A (p.Gly1341Arg)
c.3298G>A (p.Gly1100Arg)
c.292G>A (p.Gly98Arg)
n.3759G>A
c.2836G>A (p.Gly946Arg)
n.4616G>A
n.4599G>A
dbSNP
12g.45852591G>CCA384491795ARID2c.4468G>C (p.Gly1490Arg)
c.677G>C
c.4389G>C
c.4021G>C (p.Gly1341Arg)
c.3298G>C (p.Gly1100Arg)
c.292G>C (p.Gly98Arg)
n.3759G>C
c.2836G>C (p.Gly946Arg)
n.4616G>C
n.4599G>C
dbSNP
12g.45852591G=CA2033475688ARID2c.4468G= (p.Gly1490=)
c.677G=
c.4389G=
c.4021G= (p.Gly1341=)
c.3298G= (p.Gly1100=)
c.292G= (p.Gly98=)
n.3759G=
c.2836G= (p.Gly946=)
n.4616G=
n.4599G=
12g.45852591G>TCA384491796ARID2c.4468G>T (p.Gly1490Ter)
c.677G>T
c.4389G>T
c.4021G>T (p.Gly1341Ter)
c.3298G>T (p.Gly1100Ter)
c.292G>T (p.Gly98Ter)
n.3759G>T
c.2836G>T (p.Gly946Ter)
n.4616G>T
n.4599G>T
dbSNP gnomAD v2
12g.45852592G>ACA384491797ARID2c.4469G>A (p.Gly1490Glu)
c.678G>A
c.4390G>A
c.4022G>A (p.Gly1341Glu)
c.3299G>A (p.Gly1100Glu)
c.293G>A (p.Gly98Glu)
n.3760G>A
c.2837G>A (p.Gly946Glu)
n.4617G>A
n.4600G>A
dbSNP gnomAD v2 gnomAD v4
12g.45852592G>CCA384491798ARID2c.4469G>C (p.Gly1490Ala)
c.678G>C
c.4390G>C
c.4022G>C (p.Gly1341Ala)
c.3299G>C (p.Gly1100Ala)
c.293G>C (p.Gly98Ala)
n.3760G>C
c.2837G>C (p.Gly946Ala)
n.4617G>C
n.4600G>C
dbSNP
12g.45852592G=CA2033475689ARID2c.4469G= (p.Gly1490=)
c.678G=
c.4390G=
c.4022G= (p.Gly1341=)
c.3299G= (p.Gly1100=)
c.293G= (p.Gly98=)
n.3760G=
c.2837G= (p.Gly946=)
n.4617G=
n.4600G=
12g.45852592G>TCA384491799ARID2c.4469G>T (p.Gly1490Val)
c.678G>T
c.4390G>T
c.4022G>T (p.Gly1341Val)
c.3299G>T (p.Gly1100Val)
c.293G>T (p.Gly98Val)
n.3760G>T
c.2837G>T (p.Gly946Val)
n.4617G>T
n.4600G>T
dbSNP gnomAD v4
12g.45852593A=CA2033475690ARID2c.4470A= (p.Gly1490=)
c.679A=
c.4391A=
c.4023A= (p.Gly1341=)
c.3300A= (p.Gly1100=)
c.294A= (p.Gly98=)
n.3761A=
c.2838A= (p.Gly946=)
n.4618A=
n.4601A=
12g.45852593A>CCA479693842ARID2c.4470A>C (p.Gly1490=)
c.679A>C
c.4391A>C
c.4023A>C (p.Gly1341=)
c.3300A>C (p.Gly1100=)
c.294A>C (p.Gly98=)
n.3761A>C
c.2838A>C (p.Gly946=)
n.4618A>C
n.4601A>C
12g.45852593A>GCA479693843ARID2c.4470A>G (p.Gly1490=)
c.679A>G
c.4391A>G
c.4023A>G (p.Gly1341=)
c.3300A>G (p.Gly1100=)
c.294A>G (p.Gly98=)
n.3761A>G
c.2838A>G (p.Gly946=)
n.4618A>G
n.4601A>G
dbSNP gnomAD v4
12g.45852593A>TCA479693844ARID2c.4470A>T (p.Gly1490=)
c.679A>T
c.4391A>T
c.4023A>T (p.Gly1341=)
c.3300A>T (p.Gly1100=)
c.294A>T (p.Gly98=)
n.3761A>T
c.2838A>T (p.Gly946=)
n.4618A>T
n.4601A>T
dbSNP
12g.45852594T>ACA384491800ARID2c.4471T>A (p.Ser1491Thr)
c.680T>A
c.4392T>A
c.4024T>A (p.Ser1342Thr)
c.3301T>A (p.Ser1101Thr)
c.295T>A (p.Ser99Thr)
n.3762T>A
c.2839T>A (p.Ser947Thr)
n.4619T>A
n.4602T>A
dbSNP
12g.45852594T>CCA384491801ARID2c.4471T>C (p.Ser1491Pro)
c.680T>C
c.4392T>C
c.4024T>C (p.Ser1342Pro)
c.3301T>C (p.Ser1101Pro)
c.295T>C (p.Ser99Pro)
n.3762T>C
c.2839T>C (p.Ser947Pro)
n.4619T>C
n.4602T>C
dbSNP
12g.45852594T>GCA384491802ARID2c.4471T>G (p.Ser1491Ala)
c.680T>G
c.4392T>G
c.4024T>G (p.Ser1342Ala)
c.3301T>G (p.Ser1101Ala)
c.295T>G (p.Ser99Ala)
n.3762T>G
c.2839T>G (p.Ser947Ala)
n.4619T>G
n.4602T>G
dbSNP
12g.45852595C>ACA384491805ARID2c.4472C>A (p.Ser1491Ter)
c.681C>A
c.4393C>A
c.4025C>A (p.Ser1342Ter)
c.3302C>A (p.Ser1101Ter)
c.296C>A (p.Ser99Ter)
n.3763C>A
c.2840C>A (p.Ser947Ter)
n.4620C>A
n.4603C>A
12g.45852595C>GCA384491803ARID2c.4472C>G (p.Ser1491Ter)
c.681C>G
c.4393C>G
c.4025C>G (p.Ser1342Ter)
c.3302C>G (p.Ser1101Ter)
c.296C>G (p.Ser99Ter)
n.3763C>G
c.2840C>G (p.Ser947Ter)
n.4620C>G
n.4603C>G
12g.45852595C>TCA384491804ARID2c.4472C>T (p.Ser1491Leu)
c.681C>T
c.4393C>T
c.4025C>T (p.Ser1342Leu)
c.3302C>T (p.Ser1101Leu)
c.296C>T (p.Ser99Leu)
n.3763C>T
c.2840C>T (p.Ser947Leu)
n.4620C>T
n.4603C>T
dbSNP
12g.45852596A>CCA479693846ARID2c.4473A>C (p.Ser1491=)
c.682A>C
c.4394A>C
c.4026A>C (p.Ser1342=)
c.3303A>C (p.Ser1101=)
c.297A>C (p.Ser99=)
n.3764A>C
c.2841A>C (p.Ser947=)
n.4621A>C
n.4604A>C
12g.45852596A>GCA479693847ARID2c.4473A>G (p.Ser1491=)
c.682A>G
c.4394A>G
c.4026A>G (p.Ser1342=)
c.3303A>G (p.Ser1101=)
c.297A>G (p.Ser99=)
n.3764A>G
c.2841A>G (p.Ser947=)
n.4621A>G
n.4604A>G
gnomAD v4
12g.45852596A>TCA479693845ARID2c.4473A>T (p.Ser1491=)
c.682A>T
c.4394A>T
c.4026A>T (p.Ser1342=)
c.3303A>T (p.Ser1101=)
c.297A>T (p.Ser99=)
n.3764A>T
c.2841A>T (p.Ser947=)
n.4621A>T
n.4604A>T
dbSNP
12g.45852597A=CA2033475691ARID2c.4474A= (p.Lys1492=)
c.683A=
c.4395A=
c.4027A= (p.Lys1343=)
c.3304A= (p.Lys1102=)
c.298A= (p.Lys100=)
n.3765A=
c.2842A= (p.Lys948=)
n.4622A=
n.4605A=
12g.45852597A>CCA384491806ARID2c.4474A>C (p.Lys1492Gln)
c.683A>C
c.4395A>C
c.4027A>C (p.Lys1343Gln)
c.3304A>C (p.Lys1102Gln)
c.298A>C (p.Lys100Gln)
n.3765A>C
c.2842A>C (p.Lys948Gln)
n.4622A>C
n.4605A>C
dbSNP
12g.45852597A>GCA6526668ARID2c.4474A>G (p.Lys1492Glu)
c.683A>G
c.4395A>G
c.4027A>G (p.Lys1343Glu)
c.3304A>G (p.Lys1102Glu)
c.298A>G (p.Lys100Glu)
n.3765A>G
c.2842A>G (p.Lys948Glu)
n.4622A>G
n.4605A>G
dbSNP ExAC gnomAD v3 gnomAD v4
12g.45852597A>TCA384491807ARID2c.4474A>T (p.Lys1492Ter)
c.683A>T
c.4395A>T
c.4027A>T (p.Lys1343Ter)
c.3304A>T (p.Lys1102Ter)
c.298A>T (p.Lys100Ter)
n.3765A>T
c.2842A>T (p.Lys948Ter)
n.4622A>T
n.4605A>T
dbSNP
12g.45852598A=CA2033475692ARID2c.4475A= (p.Lys1492=)
c.684A=
c.4396A=
c.4028A= (p.Lys1343=)
c.3305A= (p.Lys1102=)
c.299A= (p.Lys100=)
n.3766A=
c.2843A= (p.Lys948=)
n.4623A=
n.4606A=
12g.45852598A>CCA384491808ARID2c.4475A>C (p.Lys1492Thr)
c.684A>C
c.4396A>C
c.4028A>C (p.Lys1343Thr)
c.3305A>C (p.Lys1102Thr)
c.299A>C (p.Lys100Thr)
n.3766A>C
c.2843A>C (p.Lys948Thr)
n.4623A>C
n.4606A>C
dbSNP gnomAD v3 gnomAD v4
12g.45852598A>GCA384491809ARID2c.4475A>G (p.Lys1492Arg)
c.684A>G
c.4396A>G
c.4028A>G (p.Lys1343Arg)
c.3305A>G (p.Lys1102Arg)
c.299A>G (p.Lys100Arg)
n.3766A>G
c.2843A>G (p.Lys948Arg)
n.4623A>G
n.4606A>G
dbSNP
12g.45852598A>TCA384491810ARID2c.4475A>T (p.Lys1492Ile)
c.684A>T
c.4396A>T
c.4028A>T (p.Lys1343Ile)
c.3305A>T (p.Lys1102Ile)
c.299A>T (p.Lys100Ile)
n.3766A>T
c.2843A>T (p.Lys948Ile)
n.4623A>T
n.4606A>T
dbSNP
12g.45852599A>CCA384491811ARID2c.4476A>C (p.Lys1492Asn)
c.685A>C
c.4397A>C
c.4029A>C (p.Lys1343Asn)
c.3306A>C (p.Lys1102Asn)
c.300A>C (p.Lys100Asn)
n.3767A>C
c.2844A>C (p.Lys948Asn)
n.4624A>C
n.4607A>C
12g.45852599A>GCA479693848ARID2c.4476A>G (p.Lys1492=)
c.685A>G
c.4397A>G
c.4029A>G (p.Lys1343=)
c.3306A>G (p.Lys1102=)
c.300A>G (p.Lys100=)
n.3767A>G
c.2844A>G (p.Lys948=)
n.4624A>G
n.4607A>G
dbSNP
12g.45852599A>TCA384491812ARID2c.4476A>T (p.Lys1492Asn)
c.685A>T
c.4397A>T
c.4029A>T (p.Lys1343Asn)
c.3306A>T (p.Lys1102Asn)
c.300A>T (p.Lys100Asn)
n.3767A>T
c.2844A>T (p.Lys948Asn)
n.4624A>T
n.4607A>T
dbSNP
12g.45852600G>ACA384491813ARID2c.4477G>A (p.Val1493Ile)
c.686G>A
c.4398G>A
c.4030G>A (p.Val1344Ile)
c.3307G>A (p.Val1103Ile)
c.301G>A (p.Val101Ile)
n.3768G>A
c.2845G>A (p.Val949Ile)
n.4625G>A
n.4608G>A
dbSNP
12g.45852600G>CCA384491814ARID2c.4477G>C (p.Val1493Leu)
c.686G>C
c.4398G>C
c.4030G>C (p.Val1344Leu)
c.3307G>C (p.Val1103Leu)
c.301G>C (p.Val101Leu)
n.3768G>C
c.2845G>C (p.Val949Leu)
n.4625G>C
n.4608G>C
dbSNP
12g.45852600G>TCA384491815ARID2c.4477G>T (p.Val1493Leu)
c.686G>T
c.4398G>T
c.4030G>T (p.Val1344Leu)
c.3307G>T (p.Val1103Leu)
c.301G>T (p.Val101Leu)
n.3768G>T
c.2845G>T (p.Val949Leu)
n.4625G>T
n.4608G>T
dbSNP
12g.45852601T>ACA384491817ARID2c.4478T>A (p.Val1493Glu)
c.687T>A
c.4399T>A
c.4031T>A (p.Val1344Glu)
c.3308T>A (p.Val1103Glu)
c.302T>A (p.Val101Glu)
n.3769T>A
c.2846T>A (p.Val949Glu)
n.4626T>A
n.4609T>A
dbSNP gnomAD v3 gnomAD v4
12g.45852601T>CCA384491818ARID2c.4478T>C (p.Val1493Ala)
c.687T>C
c.4399T>C
c.4031T>C (p.Val1344Ala)
c.3308T>C (p.Val1103Ala)
c.302T>C (p.Val101Ala)
n.3769T>C
c.2846T>C (p.Val949Ala)
n.4626T>C
n.4609T>C
dbSNP
12g.45852601T>GCA384491816ARID2c.4478T>G (p.Val1493Gly)
c.687T>G
c.4399T>G
c.4031T>G (p.Val1344Gly)
c.3308T>G (p.Val1103Gly)
c.302T>G (p.Val101Gly)
n.3769T>G
c.2846T>G (p.Val949Gly)
n.4626T>G
n.4609T>G
dbSNP
12g.45852601T=CA2033475693ARID2c.4478T= (p.Val1493=)
c.687T=
c.4399T=
c.4031T= (p.Val1344=)
c.3308T= (p.Val1103=)
c.302T= (p.Val101=)
n.3769T=
c.2846T= (p.Val949=)
n.4626T=
n.4609T=
12g.45852602A>CCA479693850ARID2c.4479A>C (p.Val1493=)
c.688A>C
c.4400A>C
c.4032A>C (p.Val1344=)
c.3309A>C (p.Val1103=)
c.303A>C (p.Val101=)
n.3770A>C
c.2847A>C (p.Val949=)
n.4627A>C
n.4610A>C
dbSNP
12g.45852602A>GCA479693851ARID2c.4479A>G (p.Val1493=)
c.688A>G
c.4400A>G
c.4032A>G (p.Val1344=)
c.3309A>G (p.Val1103=)
c.303A>G (p.Val101=)
n.3770A>G
c.2847A>G (p.Val949=)
n.4627A>G
n.4610A>G
gnomAD v4
12g.45852602A>TCA479693849ARID2c.4479A>T (p.Val1493=)
c.688A>T
c.4400A>T
c.4032A>T (p.Val1344=)
c.3309A>T (p.Val1103=)
c.303A>T (p.Val101=)
n.3770A>T
c.2847A>T (p.Val949=)
n.4627A>T
n.4610A>T
dbSNP
12g.45852603T>ACA384491821ARID2c.4480T>A (p.Ser1494Thr)
c.689T>A
c.4401T>A
c.4033T>A (p.Ser1345Thr)
c.3310T>A (p.Ser1104Thr)
c.304T>A (p.Ser102Thr)
n.3771T>A
c.2848T>A (p.Ser950Thr)
n.4628T>A
n.4611T>A
12g.45852603T>CCA384491819ARID2c.4480T>C (p.Ser1494Pro)
c.689T>C
c.4401T>C
c.4033T>C (p.Ser1345Pro)
c.3310T>C (p.Ser1104Pro)
c.304T>C (p.Ser102Pro)
n.3771T>C
c.2848T>C (p.Ser950Pro)
n.4628T>C
n.4611T>C
dbSNP
12g.45852603T>GCA384491820ARID2c.4480T>G (p.Ser1494Ala)
c.689T>G
c.4401T>G
c.4033T>G (p.Ser1345Ala)
c.3310T>G (p.Ser1104Ala)
c.304T>G (p.Ser102Ala)
n.3771T>G
c.2848T>G (p.Ser950Ala)
n.4628T>G
n.4611T>G
12g.45852604C>ACA384491822ARID2c.4481C>A (p.Ser1494Tyr)
c.690C>A
c.4402C>A
c.4034C>A (p.Ser1345Tyr)
c.3311C>A (p.Ser1104Tyr)
c.305C>A (p.Ser102Tyr)
n.3772C>A
c.2849C>A (p.Ser950Tyr)
n.4629C>A
n.4612C>A
dbSNP
12g.45852604C=CA2033475694ARID2c.4481C= (p.Ser1494=)
c.690C=
c.4402C=
c.4034C= (p.Ser1345=)
c.3311C= (p.Ser1104=)
c.305C= (p.Ser102=)
n.3772C=
c.2849C= (p.Ser950=)
n.4629C=
n.4612C=
12g.45852604C>GCA384491823ARID2c.4481C>G (p.Ser1494Cys)
c.690C>G
c.4402C>G
c.4034C>G (p.Ser1345Cys)
c.3311C>G (p.Ser1104Cys)
c.305C>G (p.Ser102Cys)
n.3772C>G
c.2849C>G (p.Ser950Cys)
n.4629C>G
n.4612C>G
dbSNP
12g.45852604C>TCA384491824ARID2c.4481C>T (p.Ser1494Phe)
c.690C>T
c.4402C>T
c.4034C>T (p.Ser1345Phe)
c.3311C>T (p.Ser1104Phe)
c.305C>T (p.Ser102Phe)
n.3772C>T
c.2849C>T (p.Ser950Phe)
n.4629C>T
n.4612C>T
dbSNP gnomAD v3 gnomAD v4
12g.45852605C>ACA479693854ARID2c.4482C>A (p.Ser1494=)
c.691C>A
c.4403C>A
c.4035C>A (p.Ser1345=)
c.3312C>A (p.Ser1104=)
c.306C>A (p.Ser102=)
n.3773C>A
c.2850C>A (p.Ser950=)
n.4630C>A
n.4613C>A
dbSNP
12g.45852605C>GCA479693853ARID2c.4482C>G (p.Ser1494=)
c.691C>G
c.4403C>G
c.4035C>G (p.Ser1345=)
c.3312C>G (p.Ser1104=)
c.306C>G (p.Ser102=)
n.3773C>G
c.2850C>G (p.Ser950=)
n.4630C>G
n.4613C>G
dbSNP
12g.45852605C>TCA479693852ARID2c.4482C>T (p.Ser1494=)
c.691C>T
c.4403C>T
c.4035C>T (p.Ser1345=)
c.3312C>T (p.Ser1104=)
c.306C>T (p.Ser102=)
n.3773C>T
c.2850C>T (p.Ser950=)
n.4630C>T
n.4613C>T
dbSNP
12g.45852606C>ACA384491825ARID2c.4483C>A (p.His1495Asn)
c.692C>A
c.4404C>A
c.4036C>A (p.His1346Asn)
c.3313C>A (p.His1105Asn)
c.307C>A (p.His103Asn)
n.3774C>A
c.2851C>A (p.His951Asn)
n.4631C>A
n.4614C>A
dbSNP
12g.45852606C>GCA384491826ARID2c.4483C>G (p.His1495Asp)
c.692C>G
c.4404C>G
c.4036C>G (p.His1346Asp)
c.3313C>G (p.His1105Asp)
c.307C>G (p.His103Asp)
n.3774C>G
c.2851C>G (p.His951Asp)
n.4631C>G
n.4614C>G
dbSNP
12g.45852606C>TCA384491827ARID2c.4483C>T (p.His1495Tyr)
c.692C>T
c.4404C>T
c.4036C>T (p.His1346Tyr)
c.3313C>T (p.His1105Tyr)
c.307C>T (p.His103Tyr)
n.3774C>T
c.2851C>T (p.His951Tyr)
n.4631C>T
n.4614C>T
dbSNP gnomAD v4
12g.45852607A=CA2033475695ARID2c.4484A= (p.His1495=)
c.693A=
c.4405A=
c.4037A= (p.His1346=)
c.3314A= (p.His1105=)
c.308A= (p.His103=)
n.3775A=
c.2852A= (p.His951=)
n.4632A=
n.4615A=
12g.45852607A>CCA384491828ARID2c.4484A>C (p.His1495Pro)
c.693A>C
c.4405A>C
c.4037A>C (p.His1346Pro)
c.3314A>C (p.His1105Pro)
c.308A>C (p.His103Pro)
n.3775A>C
c.2852A>C (p.His951Pro)
n.4632A>C
n.4615A>C
dbSNP
12g.45852607A>GCA384491829ARID2c.4484A>G (p.His1495Arg)
c.693A>G
c.4405A>G
c.4037A>G (p.His1346Arg)
c.3314A>G (p.His1105Arg)
c.308A>G (p.His103Arg)
n.3775A>G
c.2852A>G (p.His951Arg)
n.4632A>G
n.4615A>G
dbSNP gnomAD v3 gnomAD v4
12g.45852607A>TCA384491830ARID2c.4484A>T (p.His1495Leu)
c.693A>T
c.4405A>T
c.4037A>T (p.His1346Leu)
c.3314A>T (p.His1105Leu)
c.308A>T (p.His103Leu)
n.3775A>T
c.2852A>T (p.His951Leu)
n.4632A>T
n.4615A>T
dbSNP gnomAD v4
12g.45852608T>ACA384491831ARID2c.4485T>A (p.His1495Gln)
c.694T>A
c.4406T>A
c.4038T>A (p.His1346Gln)
c.3315T>A (p.His1105Gln)
c.309T>A (p.His103Gln)
n.3776T>A
c.2853T>A (p.His951Gln)
n.4633T>A
n.4616T>A
dbSNP
12g.45852608T>CCA479693855ARID2c.4485T>C (p.His1495=)
c.694T>C
c.4406T>C
c.4038T>C (p.His1346=)
c.3315T>C (p.His1105=)
c.309T>C (p.His103=)
n.3776T>C
c.2853T>C (p.His951=)
n.4633T>C
n.4616T>C
dbSNP
12g.45852608T>GCA384491832ARID2c.4485T>G (p.His1495Gln)
c.694T>G
c.4406T>G
c.4038T>G (p.His1346Gln)
c.3315T>G (p.His1105Gln)
c.309T>G (p.His103Gln)
n.3776T>G
c.2853T>G (p.His951Gln)
n.4633T>G
n.4616T>G
12g.45852609T>ACA384491835ARID2c.4486T>A (p.Ser1496Thr)
c.695T>A
c.4407T>A
c.4039T>A (p.Ser1347Thr)
c.3316T>A (p.Ser1106Thr)
c.310T>A (p.Ser104Thr)
n.3777T>A
c.2854T>A (p.Ser952Thr)
n.4634T>A
n.4617T>A
dbSNP
12g.45852609T>CCA384491833ARID2c.4486T>C (p.Ser1496Pro)
c.695T>C
c.4407T>C
c.4039T>C (p.Ser1347Pro)
c.3316T>C (p.Ser1106Pro)
c.310T>C (p.Ser104Pro)
n.3777T>C
c.2854T>C (p.Ser952Pro)
n.4634T>C
n.4617T>C
12g.45852609T>GCA384491834ARID2c.4486T>G (p.Ser1496Ala)
c.695T>G
c.4407T>G
c.4039T>G (p.Ser1347Ala)
c.3316T>G (p.Ser1106Ala)
c.310T>G (p.Ser104Ala)
n.3777T>G
c.2854T>G (p.Ser952Ala)
n.4634T>G
n.4617T>G
12g.45852610C>ACA384491836ARID2c.4487C>A (p.Ser1496Tyr)
c.696C>A
c.4408C>A
c.4040C>A (p.Ser1347Tyr)
c.3317C>A (p.Ser1106Tyr)
c.311C>A (p.Ser104Tyr)
n.3778C>A
c.2855C>A (p.Ser952Tyr)
n.4635C>A
n.4618C>A
dbSNP
12g.45852610C>GCA384491837ARID2c.4487C>G (p.Ser1496Cys)
c.696C>G
c.4408C>G
c.4040C>G (p.Ser1347Cys)
c.3317C>G (p.Ser1106Cys)
c.311C>G (p.Ser104Cys)
n.3778C>G
c.2855C>G (p.Ser952Cys)
n.4635C>G
n.4618C>G
dbSNP gnomAD v4
12g.45852610C>TCA384491838ARID2c.4487C>T (p.Ser1496Phe)
c.696C>T
c.4408C>T
c.4040C>T (p.Ser1347Phe)
c.3317C>T (p.Ser1106Phe)
c.311C>T (p.Ser104Phe)
n.3778C>T
c.2855C>T (p.Ser952Phe)
n.4635C>T
n.4618C>T
dbSNP COSMIC
12g.45852611T>ACA479693856ARID2c.4488T>A (p.Ser1496=)
c.697T>A
c.4409T>A
c.4041T>A (p.Ser1347=)
c.3318T>A (p.Ser1106=)
c.312T>A (p.Ser104=)
n.3779T>A
c.2856T>A (p.Ser952=)
n.4636T>A
n.4619T>A
dbSNP
12g.45852611T>CCA479693857ARID2c.4488T>C (p.Ser1496=)
c.697T>C
c.4409T>C
c.4041T>C (p.Ser1347=)
c.3318T>C (p.Ser1106=)
c.312T>C (p.Ser104=)
n.3779T>C
c.2856T>C (p.Ser952=)
n.4636T>C
n.4619T>C
dbSNP
12g.45852611T>GCA479693858ARID2c.4488T>G (p.Ser1496=)
c.697T>G
c.4409T>G
c.4041T>G (p.Ser1347=)
c.3318T>G (p.Ser1106=)
c.312T>G (p.Ser104=)
n.3779T>G
c.2856T>G (p.Ser952=)
n.4636T>G
n.4619T>G
12g.45852611_45852612insACCA2515753600ARID2c.4488_4489insAC (p.Pro1497ThrfsTer20)
c.697_698insAC
c.4409_4410insAC
c.4041_4042insAC (p.Pro1348ThrfsTer20)
c.3318_3319insAC (p.Pro1107ThrfsTer20)
c.312_313insAC (p.Pro105ThrfsTer20)
n.3779_3780insAC
c.2856_2857insAC (p.Pro953ThrfsTer20)
n.4636_4637insAC
n.4619_4620insAC
12g.45852612C>ACA384491839ARID2c.4489C>A (p.Pro1497Thr)
c.698C>A
c.4410C>A
c.4042C>A (p.Pro1348Thr)
c.3319C>A (p.Pro1107Thr)
c.313C>A (p.Pro105Thr)
n.3780C>A
c.2857C>A (p.Pro953Thr)
n.4637C>A
n.4620C>A
dbSNP
12g.45852612C=CA2033475696ARID2c.4489C= (p.Pro1497=)
c.698C=
c.4410C=
c.4042C= (p.Pro1348=)
c.3319C= (p.Pro1107=)
c.313C= (p.Pro105=)
n.3780C=
c.2857C= (p.Pro953=)
n.4637C=
n.4620C=
12g.45852612C>GCA384491840ARID2c.4489C>G (p.Pro1497Ala)
c.698C>G
c.4410C>G
c.4042C>G (p.Pro1348Ala)
c.3319C>G (p.Pro1107Ala)
c.313C>G (p.Pro105Ala)
n.3780C>G
c.2857C>G (p.Pro953Ala)
n.4637C>G
n.4620C>G
dbSNP
12g.45852612C>TCA6526669ARID2c.4489C>T (p.Pro1497Ser)
c.698C>T
c.4410C>T
c.4042C>T (p.Pro1348Ser)
c.3319C>T (p.Pro1107Ser)
c.313C>T (p.Pro105Ser)
n.3780C>T
c.2857C>T (p.Pro953Ser)
n.4637C>T
n.4620C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.45852613C>ACA384491841ARID2c.4490C>A (p.Pro1497His)
c.699C>A
c.4411C>A
c.4043C>A (p.Pro1348His)
c.3320C>A (p.Pro1107His)
c.314C>A (p.Pro105His)
n.3781C>A
c.2858C>A (p.Pro953His)
n.4638C>A
n.4621C>A
dbSNP
12g.45852613C=CA2033475697ARID2c.4490C= (p.Pro1497=)
c.699C=
c.4411C=
c.4043C= (p.Pro1348=)
c.3320C= (p.Pro1107=)
c.314C= (p.Pro105=)
n.3781C=
c.2858C= (p.Pro953=)
n.4638C=
n.4621C=
12g.45852613C>GCA384491842ARID2c.4490C>G (p.Pro1497Arg)
c.699C>G
c.4411C>G
c.4043C>G (p.Pro1348Arg)
c.3320C>G (p.Pro1107Arg)
c.314C>G (p.Pro105Arg)
n.3781C>G
c.2858C>G (p.Pro953Arg)
n.4638C>G
n.4621C>G
dbSNP
12g.45852613C>TCA384491843ARID2c.4490C>T (p.Pro1497Leu)
c.699C>T
c.4411C>T
c.4043C>T (p.Pro1348Leu)
c.3320C>T (p.Pro1107Leu)
c.314C>T (p.Pro105Leu)
n.3781C>T
c.2858C>T (p.Pro953Leu)
n.4638C>T
n.4621C>T
dbSNP gnomAD v3 gnomAD v4
12g.45852614T>ACA479693859ARID2c.4491T>A (p.Pro1497=)
c.700T>A
c.4412T>A
c.4044T>A (p.Pro1348=)
c.3321T>A (p.Pro1107=)
c.315T>A (p.Pro105=)
n.3782T>A
c.2859T>A (p.Pro953=)
n.4639T>A
n.4622T>A
dbSNP gnomAD v4
12g.45852614T>CCA479693860ARID2c.4491T>C (p.Pro1497=)
c.700T>C
c.4412T>C
c.4044T>C (p.Pro1348=)
c.3321T>C (p.Pro1107=)
c.315T>C (p.Pro105=)
n.3782T>C
c.2859T>C (p.Pro953=)
n.4639T>C
n.4622T>C
12g.45852614T>GCA479693861ARID2c.4491T>G (p.Pro1497=)
c.700T>G
c.4412T>G
c.4044T>G (p.Pro1348=)
c.3321T>G (p.Pro1107=)
c.315T>G (p.Pro105=)
n.3782T>G
c.2859T>G (p.Pro953=)
n.4639T>G
n.4622T>G
12g.45852614T=CA2033475698ARID2c.4491T= (p.Pro1497=)
c.700T=
c.4412T=
c.4044T= (p.Pro1348=)
c.3321T= (p.Pro1107=)
c.315T= (p.Pro105=)
n.3782T=
c.2859T= (p.Pro953=)
n.4639T=
n.4622T=
12g.45852615G>ACA156968ARID2c.4492G>A (p.Ala1498Thr)
c.701G>A
c.4413G>A
c.4045G>A (p.Ala1349Thr)
c.3322G>A (p.Ala1108Thr)
c.316G>A (p.Ala106Thr)
n.3783G>A
c.2860G>A (p.Ala954Thr)
n.4640G>A
n.4623G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.45852615G>CCA384491844ARID2c.4492G>C (p.Ala1498Pro)
c.701G>C
c.4413G>C
c.4045G>C (p.Ala1349Pro)
c.3322G>C (p.Ala1108Pro)
c.316G>C (p.Ala106Pro)
n.3783G>C
c.2860G>C (p.Ala954Pro)
n.4640G>C
n.4623G>C
dbSNP
12g.45852615G=CA2033475699ARID2c.4492G= (p.Ala1498=)
c.701G=
c.4413G=
c.4045G= (p.Ala1349=)
c.3322G= (p.Ala1108=)
c.316G= (p.Ala106=)
n.3783G=
c.2860G= (p.Ala954=)
n.4640G=
n.4623G=
12g.45852615G>TCA384491845ARID2c.4492G>T (p.Ala1498Ser)
c.701G>T
c.4413G>T
c.4045G>T (p.Ala1349Ser)
c.3322G>T (p.Ala1108Ser)
c.316G>T (p.Ala106Ser)
n.3783G>T
c.2860G>T (p.Ala954Ser)
n.4640G>T
n.4623G>T
dbSNP gnomAD v4
12g.45852616C>ACA384491847ARID2c.4493C>A (p.Ala1498Asp)
c.702C>A
c.4414C>A
c.4046C>A (p.Ala1349Asp)
c.3323C>A (p.Ala1108Asp)
c.317C>A (p.Ala106Asp)
n.3784C>A
c.2861C>A (p.Ala954Asp)
n.4641C>A
n.4624C>A
dbSNP
12g.45852616C=CA2033475700ARID2c.4493C= (p.Ala1498=)
c.702C=
c.4414C=
c.4046C= (p.Ala1349=)
c.3323C= (p.Ala1108=)
c.317C= (p.Ala106=)
n.3784C=
c.2861C= (p.Ala954=)
n.4641C=
n.4624C=
12g.45852616C>GCA384491846ARID2c.4493C>G (p.Ala1498Gly)
c.702C>G
c.4414C>G
c.4046C>G (p.Ala1349Gly)
c.3323C>G (p.Ala1108Gly)
c.317C>G (p.Ala106Gly)
n.3784C>G
c.2861C>G (p.Ala954Gly)
n.4641C>G
n.4624C>G
dbSNP
12g.45852616C>TCA6526670ARID2c.4493C>T (p.Ala1498Val)
c.702C>T
c.4414C>T
c.4046C>T (p.Ala1349Val)
c.3323C>T (p.Ala1108Val)
c.317C>T (p.Ala106Val)
n.3784C>T
c.2861C>T (p.Ala954Val)
n.4641C>T
n.4624C>T
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
12g.45852616_45852620delCA2507655013ARID2c.4493_4497del (p.Ala1498ValfsTer3)
c.702_706del
c.4414_4418del
c.4046_4050del (p.Ala1349ValfsTer3)
c.3323_3327del (p.Ala1108ValfsTer3)
c.317_321del (p.Ala106ValfsTer3)
n.3784_3788del
c.2861_2865del (p.Ala954ValfsTer3)
n.4641_4645del
n.4624_4628del
12g.45852617C>ACA479693862ARID2c.4494C>A (p.Ala1498=)
c.703C>A
c.4415C>A
c.4047C>A (p.Ala1349=)
c.3324C>A (p.Ala1108=)
c.318C>A (p.Ala106=)
n.3785C>A
c.2862C>A (p.Ala954=)
n.4642C>A
n.4625C>A
dbSNP
12g.45852617C=CA2033475701ARID2c.4494C= (p.Ala1498=)
c.703C=
c.4415C=
c.4047C= (p.Ala1349=)
c.3324C= (p.Ala1108=)
c.318C= (p.Ala106=)
n.3785C=
c.2862C= (p.Ala954=)
n.4642C=
n.4625C=
12g.45852617C>GCA479693863ARID2c.4494C>G (p.Ala1498=)
c.703C>G
c.4415C>G
c.4047C>G (p.Ala1349=)
c.3324C>G (p.Ala1108=)
c.318C>G (p.Ala106=)
n.3785C>G
c.2862C>G (p.Ala954=)
n.4642C>G
n.4625C>G
dbSNP
12g.45852617C>TCA479693864ARID2c.4494C>T (p.Ala1498=)
c.703C>T
c.4415C>T
c.4047C>T (p.Ala1349=)
c.3324C>T (p.Ala1108=)
c.318C>T (p.Ala106=)
n.3785C>T
c.2862C>T (p.Ala954=)
n.4642C>T
n.4625C>T
dbSNP gnomAD v4
12g.45852618C>ACA384491848ARID2c.4495C>A (p.Leu1499Ile)
c.704C>A
c.4416C>A
c.4048C>A (p.Leu1350Ile)
c.3325C>A (p.Leu1109Ile)
c.319C>A (p.Leu107Ile)
n.3786C>A
c.2863C>A (p.Leu955Ile)
n.4643C>A
n.4626C>A
dbSNP
12g.45852618C=CA2033475702ARID2c.4495C= (p.Leu1499=)
c.704C=
c.4416C=
c.4048C= (p.Leu1350=)
c.3325C= (p.Leu1109=)
c.319C= (p.Leu107=)
n.3786C=
c.2863C= (p.Leu955=)
n.4643C=
n.4626C=
12g.45852618C>GCA384491849ARID2c.4495C>G (p.Leu1499Val)
c.704C>G
c.4416C>G
c.4048C>G (p.Leu1350Val)
c.3325C>G (p.Leu1109Val)
c.319C>G (p.Leu107Val)
n.3786C>G
c.2863C>G (p.Leu955Val)
n.4643C>G
n.4626C>G
dbSNP gnomAD v4
12g.45852618C>TCA6526671ARID2c.4495C>T (p.Leu1499=)
c.704C>T
c.4416C>T
c.4048C>T (p.Leu1350=)
c.3325C>T (p.Leu1109=)
c.319C>T (p.Leu107=)
n.3786C>T
c.2863C>T (p.Leu955=)
n.4643C>T
n.4626C>T
dbSNP ExAC gnomAD v2 gnomAD v4
12g.45852619T>ACA384491850ARID2c.4496T>A (p.Leu1499Gln)
c.705T>A
c.4417T>A
c.4049T>A (p.Leu1350Gln)
c.3326T>A (p.Leu1109Gln)
c.320T>A (p.Leu107Gln)
n.3787T>A
c.2864T>A (p.Leu955Gln)
n.4644T>A
n.4627T>A
dbSNP
12g.45852619T>CCA384491851ARID2c.4496T>C (p.Leu1499Pro)
c.705T>C
c.4417T>C
c.4049T>C (p.Leu1350Pro)
c.3326T>C (p.Leu1109Pro)
c.320T>C (p.Leu107Pro)
n.3787T>C
c.2864T>C (p.Leu955Pro)
n.4644T>C
n.4627T>C
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.45852619T>GCA384491852ARID2c.4496T>G (p.Leu1499Arg)
c.705T>G
c.4417T>G
c.4049T>G (p.Leu1350Arg)
c.3326T>G (p.Leu1109Arg)
c.320T>G (p.Leu107Arg)
n.3787T>G
c.2864T>G (p.Leu955Arg)
n.4644T>G
n.4627T>G
ClinVar
12g.45852619T=CA2033475703ARID2c.4496T= (p.Leu1499=)
c.705T=
c.4417T=
c.4049T= (p.Leu1350=)
c.3326T= (p.Leu1109=)
c.320T= (p.Leu107=)
n.3787T=
c.2864T= (p.Leu955=)
n.4644T=
n.4627T=
12g.45852620A=CA2033475704ARID2c.4497A= (p.Leu1499=)
c.706A=
c.4418A=
c.4050A= (p.Leu1350=)
c.3327A= (p.Leu1109=)
c.321A= (p.Leu107=)
n.3788A=
c.2865A= (p.Leu955=)
n.4645A=
n.4628A=
12g.45852620A>CCA479693865ARID2c.4497A>C (p.Leu1499=)
c.706A>C
c.4418A>C
c.4050A>C (p.Leu1350=)
c.3327A>C (p.Leu1109=)
c.321A>C (p.Leu107=)
n.3788A>C
c.2865A>C (p.Leu955=)
n.4645A>C
n.4628A>C
dbSNP
12g.45852620A>GCA6526672ARID2c.4497A>G (p.Leu1499=)
c.706A>G
c.4418A>G
c.4050A>G (p.Leu1350=)
c.3327A>G (p.Leu1109=)
c.321A>G (p.Leu107=)
n.3788A>G
c.2865A>G (p.Leu955=)
n.4645A>G
n.4628A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.45852620A>TCA479693866ARID2c.4497A>T (p.Leu1499=)
c.706A>T
c.4418A>T
c.4050A>T (p.Leu1350=)
c.3327A>T (p.Leu1109=)
c.321A>T (p.Leu107=)
n.3788A>T
c.2865A>T (p.Leu955=)
n.4645A>T
n.4628A>T
dbSNP gnomAD v3 gnomAD v4
12g.45852621T>ACA384491853ARID2c.4498T>A (p.Ser1500Thr)
c.707T>A
c.4419T>A
c.4051T>A (p.Ser1351Thr)
c.3328T>A (p.Ser1110Thr)
c.322T>A (p.Ser108Thr)
n.3789T>A
c.2866T>A (p.Ser956Thr)
n.4646T>A
n.4629T>A
dbSNP
12g.45852621T>CCA384491854ARID2c.4498T>C (p.Ser1500Pro)
c.707T>C
c.4419T>C
c.4051T>C (p.Ser1351Pro)
c.3328T>C (p.Ser1110Pro)
c.322T>C (p.Ser108Pro)
n.3789T>C
c.2866T>C (p.Ser956Pro)
n.4646T>C
n.4629T>C
dbSNP gnomAD v4
12g.45852621T>GCA384491855ARID2c.4498T>G (p.Ser1500Ala)
c.707T>G
c.4419T>G
c.4051T>G (p.Ser1351Ala)
c.3328T>G (p.Ser1110Ala)
c.322T>G (p.Ser108Ala)
n.3789T>G
c.2866T>G (p.Ser956Ala)
n.4646T>G
n.4629T>G
12g.45852622C>ACA384491856ARID2c.4499C>A (p.Ser1500Ter)
c.708C>A
c.4420C>A
c.4052C>A (p.Ser1351Ter)
c.3329C>A (p.Ser1110Ter)
c.323C>A (p.Ser108Ter)
n.3790C>A
c.2867C>A (p.Ser956Ter)
n.4647C>A
n.4630C>A
dbSNP
12g.45852622C>GCA384491857ARID2c.4499C>G (p.Ser1500Ter)
c.708C>G
c.4420C>G
c.4052C>G (p.Ser1351Ter)
c.3329C>G (p.Ser1110Ter)
c.323C>G (p.Ser108Ter)
n.3790C>G
c.2867C>G (p.Ser956Ter)
n.4647C>G
n.4630C>G
dbSNP
12g.45852622C>TCA384491858ARID2c.4499C>T (p.Ser1500Leu)
c.708C>T
c.4420C>T
c.4052C>T (p.Ser1351Leu)
c.3329C>T (p.Ser1110Leu)
c.323C>T (p.Ser108Leu)
n.3790C>T
c.2867C>T (p.Ser956Leu)
n.4647C>T
n.4630C>T
dbSNP
12g.45852623A=CA2033475705ARID2c.4500A= (p.Ser1500=)
c.709A=
c.4421A=
c.4053A= (p.Ser1351=)
c.3330A= (p.Ser1110=)
c.324A= (p.Ser108=)
n.3791A=
c.2868A= (p.Ser956=)
n.4648A=
n.4631A=
12g.45852623A>CCA479693869ARID2c.4500A>C (p.Ser1500=)
c.709A>C
c.4421A>C
c.4053A>C (p.Ser1351=)
c.3330A>C (p.Ser1110=)
c.324A>C (p.Ser108=)
n.3791A>C
c.2868A>C (p.Ser956=)
n.4648A>C
n.4631A>C
dbSNP
12g.45852623A>GCA479693868ARID2c.4500A>G (p.Ser1500=)
c.709A>G
c.4421A>G
c.4053A>G (p.Ser1351=)
c.3330A>G (p.Ser1110=)
c.324A>G (p.Ser108=)
n.3791A>G
c.2868A>G (p.Ser956=)
n.4648A>G
n.4631A>G
dbSNP gnomAD v4
12g.45852623A>TCA479693867ARID2c.4500A>T (p.Ser1500=)
c.709A>T
c.4421A>T
c.4053A>T (p.Ser1351=)
c.3330A>T (p.Ser1110=)
c.324A>T (p.Ser108=)
n.3791A>T
c.2868A>T (p.Ser956=)
n.4648A>T
n.4631A>T
dbSNP
12g.45852624T>ACA384491861ARID2c.4501T>A (p.Ser1501Thr)
c.710T>A
c.4422T>A
c.4054T>A (p.Ser1352Thr)
c.3331T>A (p.Ser1111Thr)
c.325T>A (p.Ser109Thr)
n.3792T>A
c.2869T>A (p.Ser957Thr)
n.4649T>A
n.4632T>A
dbSNP
12g.45852624T>CCA384491859ARID2c.4501T>C (p.Ser1501Pro)
c.710T>C
c.4422T>C
c.4054T>C (p.Ser1352Pro)
c.3331T>C (p.Ser1111Pro)
c.325T>C (p.Ser109Pro)
n.3792T>C
c.2869T>C (p.Ser957Pro)
n.4649T>C
n.4632T>C
dbSNP
12g.45852624T>GCA384491860ARID2c.4501T>G (p.Ser1501Ala)
c.710T>G
c.4422T>G
c.4054T>G (p.Ser1352Ala)
c.3331T>G (p.Ser1111Ala)
c.325T>G (p.Ser109Ala)
n.3792T>G
c.2869T>G (p.Ser957Ala)
n.4649T>G
n.4632T>G
12g.45852625C>ACA384491862ARID2c.4502C>A (p.Ser1501Tyr)
c.711C>A
c.4423C>A
c.4055C>A (p.Ser1352Tyr)
c.3332C>A (p.Ser1111Tyr)
c.326C>A (p.Ser109Tyr)
n.3793C>A
c.2870C>A (p.Ser957Tyr)
n.4650C>A
n.4633C>A
dbSNP
12g.45852625C>GCA384491863ARID2c.4502C>G (p.Ser1501Cys)
c.711C>G
c.4423C>G
c.4055C>G (p.Ser1352Cys)
c.3332C>G (p.Ser1111Cys)
c.326C>G (p.Ser109Cys)
n.3793C>G
c.2870C>G (p.Ser957Cys)
n.4650C>G
n.4633C>G
dbSNP
12g.45852625C>TCA384491864ARID2c.4502C>T (p.Ser1501Phe)
c.711C>T
c.4423C>T
c.4055C>T (p.Ser1352Phe)
c.3332C>T (p.Ser1111Phe)
c.326C>T (p.Ser109Phe)
n.3793C>T
c.2870C>T (p.Ser957Phe)
n.4650C>T
n.4633C>T
dbSNP
12g.45852626T>ACA479693871ARID2c.4503T>A (p.Ser1501=)
c.712T>A
c.4424T>A
c.4056T>A (p.Ser1352=)
c.3333T>A (p.Ser1111=)
c.327T>A (p.Ser109=)
n.3794T>A
c.2871T>A (p.Ser957=)
n.4651T>A
n.4634T>A
dbSNP
12g.45852626T>CCA6526673ARID2c.4503T>C (p.Ser1501=)
c.712T>C
c.4424T>C
c.4056T>C (p.Ser1352=)
c.3333T>C (p.Ser1111=)
c.327T>C (p.Ser109=)
n.3794T>C
c.2871T>C (p.Ser957=)
n.4651T>C
n.4634T>C
dbSNP ExAC gnomAD v2 gnomAD v4
12g.45852626T>GCA479693870ARID2c.4503T>G (p.Ser1501=)
c.712T>G
c.4424T>G
c.4056T>G (p.Ser1352=)
c.3333T>G (p.Ser1111=)
c.327T>G (p.Ser109=)
n.3794T>G
c.2871T>G (p.Ser957=)
n.4651T>G
n.4634T>G
dbSNP
12g.45852626T=CA2033475706ARID2c.4503T= (p.Ser1501=)
c.712T=
c.4424T=
c.4056T= (p.Ser1352=)
c.3333T= (p.Ser1111=)
c.327T= (p.Ser109=)
n.3794T=
c.2871T= (p.Ser957=)
n.4651T=
n.4634T=
12g.45852627G>ACA384491865ARID2c.4504G>A (p.Asp1502Asn)
c.713G>A
c.4425G>A
c.4057G>A (p.Asp1353Asn)
c.3334G>A (p.Asp1112Asn)
c.328G>A (p.Asp110Asn)
n.3795G>A
c.2872G>A (p.Asp958Asn)
n.4652G>A
n.4635G>A
dbSNP
12g.45852627G>CCA384491866ARID2c.4504G>C (p.Asp1502His)
c.713G>C
c.4425G>C
c.4057G>C (p.Asp1353His)
c.3334G>C (p.Asp1112His)
c.328G>C (p.Asp110His)
n.3795G>C
c.2872G>C (p.Asp958His)
n.4652G>C
n.4635G>C
dbSNP
12g.45852627G>TCA384491867ARID2c.4504G>T (p.Asp1502Tyr)
c.713G>T
c.4425G>T
c.4057G>T (p.Asp1353Tyr)
c.3334G>T (p.Asp1112Tyr)
c.328G>T (p.Asp110Tyr)
n.3795G>T
c.2872G>T (p.Asp958Tyr)
n.4652G>T
n.4635G>T
dbSNP
12g.45852628A=CA2033475707ARID2c.4505A= (p.Asp1502=)
c.714A=
c.4426A=
c.4058A= (p.Asp1353=)
c.3335A= (p.Asp1112=)
c.329A= (p.Asp110=)
n.3796A=
c.2873A= (p.Asp958=)
n.4653A=
n.4636A=
12g.45852628A>CCA384491868ARID2c.4505A>C (p.Asp1502Ala)
c.714A>C
c.4426A>C
c.4058A>C (p.Asp1353Ala)
c.3335A>C (p.Asp1112Ala)
c.329A>C (p.Asp110Ala)
n.3796A>C
c.2873A>C (p.Asp958Ala)
n.4653A>C
n.4636A>C
dbSNP
12g.45852628A>GCA6526674ARID2c.4505A>G (p.Asp1502Gly)
c.714A>G
c.4426A>G
c.4058A>G (p.Asp1353Gly)
c.3335A>G (p.Asp1112Gly)
c.329A>G (p.Asp110Gly)
n.3796A>G
c.2873A>G (p.Asp958Gly)
n.4653A>G
n.4636A>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.45852628A>TCA384491869ARID2c.4505A>T (p.Asp1502Val)
c.714A>T
c.4426A>T
c.4058A>T (p.Asp1353Val)
c.3335A>T (p.Asp1112Val)
c.329A>T (p.Asp110Val)
n.3796A>T
c.2873A>T (p.Asp958Val)
n.4653A>T
n.4636A>T
dbSNP
12g.45852629C>ACA384491870ARID2c.4506C>A (p.Asp1502Glu)
c.715C>A
c.4427C>A
c.4059C>A (p.Asp1353Glu)
c.3336C>A (p.Asp1112Glu)
c.330C>A (p.Asp110Glu)
n.3797C>A
c.2874C>A (p.Asp958Glu)
n.4654C>A
n.4637C>A
dbSNP
12g.45852629C=CA2033475708ARID2c.4506C= (p.Asp1502=)
c.715C=
c.4427C=
c.4059C= (p.Asp1353=)
c.3336C= (p.Asp1112=)
c.330C= (p.Asp110=)
n.3797C=
c.2874C= (p.Asp958=)
n.4654C=
n.4637C=
12g.45852629C>GCA384491871ARID2c.4506C>G (p.Asp1502Glu)
c.715C>G
c.4427C>G
c.4059C>G (p.Asp1353Glu)
c.3336C>G (p.Asp1112Glu)
c.330C>G (p.Asp110Glu)
n.3797C>G
c.2874C>G (p.Asp958Glu)
n.4654C>G
n.4637C>G
dbSNP
12g.45852629C>TCA6526675ARID2c.4506C>T (p.Asp1502=)
c.715C>T
c.4427C>T
c.4059C>T (p.Asp1353=)
c.3336C>T (p.Asp1112=)
c.330C>T (p.Asp110=)
n.3797C>T
c.2874C>T (p.Asp958=)
n.4654C>T
n.4637C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.45852630G>ACA6526676ARID2c.4507G>A (p.Val1503Ile)
c.716G>A
c.4428G>A
c.4060G>A (p.Val1354Ile)
c.3337G>A (p.Val1113Ile)
c.331G>A (p.Val111Ile)
n.3798G>A
c.2875G>A (p.Val959Ile)
n.4655G>A
n.4638G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.45852630G>CCA6526677ARID2c.4507G>C (p.Val1503Leu)
c.716G>C
c.4428G>C
c.4060G>C (p.Val1354Leu)
c.3337G>C (p.Val1113Leu)
c.331G>C (p.Val111Leu)
n.3798G>C
c.2875G>C (p.Val959Leu)
n.4655G>C
n.4638G>C
dbSNP ExAC gnomAD v2
12g.45852630G=CA2033475709ARID2c.4507G= (p.Val1503=)
c.716G=
c.4428G=
c.4060G= (p.Val1354=)
c.3337G= (p.Val1113=)
c.331G= (p.Val111=)
n.3798G=
c.2875G= (p.Val959=)
n.4655G=
n.4638G=
12g.45852630G>TCA384491872ARID2c.4507G>T (p.Val1503Phe)
c.716G>T
c.4428G>T
c.4060G>T (p.Val1354Phe)
c.3337G>T (p.Val1113Phe)
c.331G>T (p.Val111Phe)
n.3798G>T
c.2875G>T (p.Val959Phe)
n.4655G>T
n.4638G>T
dbSNP
12g.45852631T>ACA384491874ARID2c.4508T>A (p.Val1503Asp)
c.717T>A
c.4429T>A
c.4061T>A (p.Val1354Asp)
c.3338T>A (p.Val1113Asp)
c.332T>A (p.Val111Asp)
n.3799T>A
c.2876T>A (p.Val959Asp)
n.4656T>A
n.4639T>A
12g.45852631T>CCA384491873ARID2c.4508T>C (p.Val1503Ala)
c.717T>C
c.4429T>C
c.4061T>C (p.Val1354Ala)
c.3338T>C (p.Val1113Ala)
c.332T>C (p.Val111Ala)
n.3799T>C
c.2876T>C (p.Val959Ala)
n.4656T>C
n.4639T>C
12g.45852631T>GCA384491875ARID2c.4508T>G (p.Val1503Gly)
c.717T>G
c.4429T>G
c.4061T>G (p.Val1354Gly)
c.3338T>G (p.Val1113Gly)
c.332T>G (p.Val111Gly)
n.3799T>G
c.2876T>G (p.Val959Gly)
n.4656T>G
n.4639T>G
dbSNP gnomAD v3 gnomAD v4
12g.45852631T=CA2033475710ARID2c.4508T= (p.Val1503=)
c.717T=
c.4429T=
c.4061T= (p.Val1354=)
c.3338T= (p.Val1113=)
c.332T= (p.Val111=)
n.3799T=
c.2876T= (p.Val959=)
n.4656T=
n.4639T=
12g.45852632delCA479693872ARID2c.4509del (p.Arg1504GlyfsTer12)
c.718del
c.4430del
c.4062del (p.Arg1355GlyfsTer12)
c.3339del (p.Arg1114GlyfsTer12)
c.333del (p.Arg112GlyfsTer12)
n.3800del
c.2877del (p.Arg960GlyfsTer12)
n.4657del
n.4640del
COSMIC
12g.45852631_45852632insACA2741808815ARID2c.4508_4509insA (p.Arg1504SerfsTer20)
c.717_718insA
c.4429_4430insA
c.4061_4062insA (p.Arg1355SerfsTer20)
c.3338_3339insA (p.Arg1114SerfsTer20)
c.332_333insA (p.Arg112SerfsTer20)
n.3799_3800insA
c.2876_2877insA (p.Arg960SerfsTer20)
n.4656_4657insA
n.4639_4640insA
12g.45852632T>ACA479693873ARID2c.4509T>A (p.Val1503=)
c.718T>A
c.4430T>A
c.4062T>A (p.Val1354=)
c.3339T>A (p.Val1113=)
c.333T>A (p.Val111=)
n.3800T>A
c.2877T>A (p.Val959=)
n.4657T>A
n.4640T>A
dbSNP
12g.45852632T>CCA479693874ARID2c.4509T>C (p.Val1503=)
c.718T>C
c.4430T>C
c.4062T>C (p.Val1354=)
c.3339T>C (p.Val1113=)
c.333T>C (p.Val111=)
n.3800T>C
c.2877T>C (p.Val959=)
n.4657T>C
n.4640T>C
dbSNP
12g.45852632T>GCA479693875ARID2c.4509T>G (p.Val1503=)
c.718T>G
c.4430T>G
c.4062T>G (p.Val1354=)
c.3339T>G (p.Val1113=)
c.333T>G (p.Val111=)
n.3800T>G
c.2877T>G (p.Val959=)
n.4657T>G
n.4640T>G
COSMIC
12g.45852633C>ACA6526678ARID2c.4510C>A (p.Arg1504=)
c.719C>A
c.4431C>A
c.4063C>A (p.Arg1355=)
c.3340C>A (p.Arg1114=)
c.334C>A (p.Arg112=)
n.3801C>A
c.2878C>A (p.Arg960=)
n.4658C>A
n.4641C>A
dbSNP ExAC gnomAD v2 gnomAD v4
12g.45852633C=CA2033475711ARID2c.4510C= (p.Arg1504=)
c.719C=
c.4431C=
c.4063C= (p.Arg1355=)
c.3340C= (p.Arg1114=)
c.334C= (p.Arg112=)
n.3801C=
c.2878C= (p.Arg960=)
n.4658C=
n.4641C=
12g.45852633C>GCA384491876ARID2c.4510C>G (p.Arg1504Gly)
c.719C>G
c.4431C>G
c.4063C>G (p.Arg1355Gly)
c.3340C>G (p.Arg1114Gly)
c.334C>G (p.Arg112Gly)
n.3801C>G
c.2878C>G (p.Arg960Gly)
n.4658C>G
n.4641C>G
dbSNP
12g.45852633C>TCA156958ARID2c.4510C>T (p.Arg1504Trp)
c.719C>T
c.4431C>T
c.4063C>T (p.Arg1355Trp)
c.3340C>T (p.Arg1114Trp)
c.334C>T (p.Arg112Trp)
n.3801C>T
c.2878C>T (p.Arg960Trp)
n.4658C>T
n.4641C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.45852634G>ACA6526679ARID2c.4511G>A (p.Arg1504Gln)
c.720G>A
c.4432G>A
c.4064G>A (p.Arg1355Gln)
c.3341G>A (p.Arg1114Gln)
c.335G>A (p.Arg112Gln)
n.3802G>A
c.2879G>A (p.Arg960Gln)
n.4659G>A
n.4642G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.45852634G>CCA384491877ARID2c.4511G>C (p.Arg1504Pro)
c.720G>C
c.4432G>C
c.4064G>C (p.Arg1355Pro)
c.3341G>C (p.Arg1114Pro)
c.335G>C (p.Arg112Pro)
n.3802G>C
c.2879G>C (p.Arg960Pro)
n.4659G>C
n.4642G>C
dbSNP
12g.45852634G=CA2033475712ARID2c.4511G= (p.Arg1504=)
c.720G=
c.4432G=
c.4064G= (p.Arg1355=)
c.3341G= (p.Arg1114=)
c.335G= (p.Arg112=)
n.3802G=
c.2879G= (p.Arg960=)
n.4659G=
n.4642G=
12g.45852634G>TCA384491878ARID2c.4511G>T (p.Arg1504Leu)
c.720G>T
c.4432G>T
c.4064G>T (p.Arg1355Leu)
c.3341G>T (p.Arg1114Leu)
c.335G>T (p.Arg112Leu)
n.3802G>T
c.2879G>T (p.Arg960Leu)
n.4659G>T
n.4642G>T
dbSNP
12g.45852635G>ACA6526680ARID2c.4512G>A (p.Arg1504=)
c.721G>A
c.4433G>A
c.4065G>A (p.Arg1355=)
c.3342G>A (p.Arg1114=)
c.336G>A (p.Arg112=)
n.3803G>A
c.2880G>A (p.Arg960=)
n.4660G>A
n.4643G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.45852635G>CCA479693876ARID2c.4512G>C (p.Arg1504=)
c.721G>C
c.4433G>C
c.4065G>C (p.Arg1355=)
c.3342G>C (p.Arg1114=)
c.336G>C (p.Arg112=)
n.3803G>C
c.2880G>C (p.Arg960=)
n.4660G>C
n.4643G>C
dbSNP
12g.45852635G=CA2033475713ARID2c.4512G= (p.Arg1504=)
c.721G=
c.4433G=
c.4065G= (p.Arg1355=)
c.3342G= (p.Arg1114=)
c.336G= (p.Arg112=)
n.3803G=
c.2880G= (p.Arg960=)
n.4660G=
n.4643G=
12g.45852635G>TCA479693877ARID2c.4512G>T (p.Arg1504=)
c.721G>T
c.4433G>T
c.4065G>T (p.Arg1355=)
c.3342G>T (p.Arg1114=)
c.336G>T (p.Arg112=)
n.3803G>T
c.2880G>T (p.Arg960=)
n.4660G>T
n.4643G>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.45852636T>ACA384491881ARID2c.4513T>A (p.Ser1505Thr)
c.722T>A
c.4434T>A
c.4066T>A (p.Ser1356Thr)
c.3343T>A (p.Ser1115Thr)
c.337T>A (p.Ser113Thr)
n.3804T>A
c.2881T>A (p.Ser961Thr)
n.4661T>A
n.4644T>A
12g.45852636T>CCA384491879ARID2c.4513T>C (p.Ser1505Pro)
c.722T>C
c.4434T>C
c.4066T>C (p.Ser1356Pro)
c.3343T>C (p.Ser1115Pro)
c.337T>C (p.Ser113Pro)
n.3804T>C
c.2881T>C (p.Ser961Pro)
n.4661T>C
n.4644T>C
12g.45852636T>GCA384491880ARID2c.4513T>G (p.Ser1505Ala)
c.722T>G
c.4434T>G
c.4066T>G (p.Ser1356Ala)
c.3343T>G (p.Ser1115Ala)
c.337T>G (p.Ser113Ala)
n.3804T>G
c.2881T>G (p.Ser961Ala)
n.4661T>G
n.4644T>G
12g.45852637C>ACA384491882ARID2c.4514C>A (p.Ser1505Tyr)
c.723C>A
c.4435C>A
c.4067C>A (p.Ser1356Tyr)
c.3344C>A (p.Ser1115Tyr)
c.338C>A (p.Ser113Tyr)
n.3805C>A
c.2882C>A (p.Ser961Tyr)
n.4662C>A
n.4645C>A
12g.45852637C>GCA384491883ARID2c.4514C>G (p.Ser1505Cys)
c.723C>G
c.4435C>G
c.4067C>G (p.Ser1356Cys)
c.3344C>G (p.Ser1115Cys)
c.338C>G (p.Ser113Cys)
n.3805C>G
c.2882C>G (p.Ser961Cys)
n.4662C>G
n.4645C>G
dbSNP
12g.45852637C>TCA384491884ARID2c.4514C>T (p.Ser1505Phe)
c.723C>T
c.4435C>T
c.4067C>T (p.Ser1356Phe)
c.3344C>T (p.Ser1115Phe)
c.338C>T (p.Ser113Phe)
n.3805C>T
c.2882C>T (p.Ser961Phe)
n.4662C>T
n.4645C>T
dbSNP
12g.45852638T>ACA479693878ARID2c.4515T>A (p.Ser1505=)
c.724T>A
c.4436T>A
c.4068T>A (p.Ser1356=)
c.3345T>A (p.Ser1115=)
c.339T>A (p.Ser113=)
n.3806T>A
c.2883T>A (p.Ser961=)
n.4663T>A
n.4646T>A
dbSNP
12g.45852638T>CCA479693879ARID2c.4515T>C (p.Ser1505=)
c.724T>C
c.4436T>C
c.4068T>C (p.Ser1356=)
c.3345T>C (p.Ser1115=)
c.339T>C (p.Ser113=)
n.3806T>C
c.2883T>C (p.Ser961=)
n.4663T>C
n.4646T>C
dbSNP
12g.45852638T>GCA479693880ARID2c.4515T>G (p.Ser1505=)
c.724T>G
c.4436T>G
c.4068T>G (p.Ser1356=)
c.3345T>G (p.Ser1115=)
c.339T>G (p.Ser113=)
n.3806T>G
c.2883T>G (p.Ser961=)
n.4663T>G
n.4646T>G
12g.45852639A>CCA384491885ARID2c.4516A>C (p.Thr1506Pro)
c.725A>C
c.4437A>C
c.4069A>C (p.Thr1357Pro)
c.3346A>C (p.Thr1116Pro)
c.340A>C (p.Thr114Pro)
n.3807A>C
c.2884A>C (p.Thr962Pro)
n.4664A>C
n.4647A>C
dbSNP
12g.45852639A>GCA384491886ARID2c.4516A>G (p.Thr1506Ala)
c.725A>G
c.4437A>G
c.4069A>G (p.Thr1357Ala)
c.3346A>G (p.Thr1116Ala)
c.340A>G (p.Thr114Ala)
n.3807A>G
c.2884A>G (p.Thr962Ala)
n.4664A>G
n.4647A>G
dbSNP gnomAD v4
12g.45852639A>TCA384491887ARID2c.4516A>T (p.Thr1506Ser)
c.725A>T
c.4437A>T
c.4069A>T (p.Thr1357Ser)
c.3346A>T (p.Thr1116Ser)
c.340A>T (p.Thr114Ser)
n.3807A>T
c.2884A>T (p.Thr962Ser)
n.4664A>T
n.4647A>T
dbSNP
12g.45852640C>ACA384491888ARID2c.4517C>A (p.Thr1506Lys)
c.726C>A
c.4438C>A
c.4070C>A (p.Thr1357Lys)
c.3347C>A (p.Thr1116Lys)
c.341C>A (p.Thr114Lys)
n.3808C>A
c.2885C>A (p.Thr962Lys)
n.4665C>A
n.4648C>A
12g.45852640C=CA2033475714ARID2c.4517C= (p.Thr1506=)
c.726C=
c.4438C=
c.4070C= (p.Thr1357=)
c.3347C= (p.Thr1116=)
c.341C= (p.Thr114=)
n.3808C=
c.2885C= (p.Thr962=)
n.4665C=
n.4648C=
12g.45852640C>GCA384491890ARID2c.4517C>G (p.Thr1506Arg)
c.726C>G
c.4438C>G
c.4070C>G (p.Thr1357Arg)
c.3347C>G (p.Thr1116Arg)
c.341C>G (p.Thr114Arg)
n.3808C>G
c.2885C>G (p.Thr962Arg)
n.4665C>G
n.4648C>G
12g.45852640C>TCA384491889ARID2c.4517C>T (p.Thr1506Ile)
c.726C>T
c.4438C>T
c.4070C>T (p.Thr1357Ile)
c.3347C>T (p.Thr1116Ile)
c.341C>T (p.Thr114Ile)
n.3808C>T
c.2885C>T (p.Thr962Ile)
n.4665C>T
n.4648C>T
12g.45852641A>CCA479693881ARID2c.4518A>C (p.Thr1506=)
c.727A>C
c.4439A>C
c.4071A>C (p.Thr1357=)
c.3348A>C (p.Thr1116=)
c.342A>C (p.Thr114=)
n.3809A>C
c.2886A>C (p.Thr962=)
n.4666A>C
n.4649A>C
12g.45852641A>GCA479693882ARID2c.4518A>G (p.Thr1506=)
c.727A>G
c.4439A>G
c.4071A>G (p.Thr1357=)
c.3348A>G (p.Thr1116=)
c.342A>G (p.Thr114=)
n.3809A>G
c.2886A>G (p.Thr962=)
n.4666A>G
n.4649A>G
gnomAD v4
12g.45852641A>TCA479693883ARID2c.4518A>T (p.Thr1506=)
c.727A>T
c.4439A>T
c.4071A>T (p.Thr1357=)
c.3348A>T (p.Thr1116=)
c.342A>T (p.Thr114=)
n.3809A>T
c.2886A>T (p.Thr962=)
n.4666A>T
n.4649A>T
dbSNP
12g.45852643dupCA236400808ARID2c.4520dup (p.Asn1507LysfsTer17)
c.729dup
c.4441dup
c.4073dup (p.Asn1358LysfsTer17)
c.3350dup (p.Asn1117LysfsTer17)
c.344dup (p.Asn115LysfsTer17)
n.3811dup
c.2888dup (p.Asn963LysfsTer17)
n.4668dup
n.4651dup
dbSNP
12g.45852643delCA2726049926ARID2c.4520del (p.Asn1507MetfsTer9)
c.729del
c.4441del
c.4073del (p.Asn1358MetfsTer9)
c.3350del (p.Asn1117MetfsTer9)
c.344del (p.Asn115MetfsTer9)
n.3811del
c.2888del (p.Asn963MetfsTer9)
n.4668del
n.4651del
dbSNP
12g.45852642A=CA2033475715ARID2c.4519A= (p.Asn1507=)
c.728A=
c.4440A=
c.4072A= (p.Asn1358=)
c.3349A= (p.Asn1117=)
c.343A= (p.Asn115=)
n.3810A=
c.2887A= (p.Asn963=)
n.4667A=
n.4650A=
12g.45852642A>CCA384491891ARID2c.4519A>C (p.Asn1507His)
c.728A>C
c.4440A>C
c.4072A>C (p.Asn1358His)
c.3349A>C (p.Asn1117His)
c.343A>C (p.Asn115His)
n.3810A>C
c.2887A>C (p.Asn963His)
n.4667A>C
n.4650A>C
dbSNP gnomAD v2 gnomAD v4
12g.45852642A>GCA6526681ARID2c.4519A>G (p.Asn1507Asp)
c.728A>G
c.4440A>G
c.4072A>G (p.Asn1358Asp)
c.3349A>G (p.Asn1117Asp)
c.343A>G (p.Asn115Asp)
n.3810A>G
c.2887A>G (p.Asn963Asp)
n.4667A>G
n.4650A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.45852642A>TCA384491892ARID2c.4519A>T (p.Asn1507Tyr)
c.728A>T
c.4440A>T
c.4072A>T (p.Asn1358Tyr)
c.3349A>T (p.Asn1117Tyr)
c.343A>T (p.Asn115Tyr)
n.3810A>T
c.2887A>T (p.Asn963Tyr)
n.4667A>T
n.4650A>T
dbSNP
12g.45852643A>CCA384491893ARID2c.4520A>C (p.Asn1507Thr)
c.729A>C
c.4441A>C
c.4073A>C (p.Asn1358Thr)
c.3350A>C (p.Asn1117Thr)
c.344A>C (p.Asn115Thr)
n.3811A>C
c.2888A>C (p.Asn963Thr)
n.4668A>C
n.4651A>C
12g.45852643A>GCA384491894ARID2c.4520A>G (p.Asn1507Ser)
c.729A>G
c.4441A>G
c.4073A>G (p.Asn1358Ser)
c.3350A>G (p.Asn1117Ser)
c.344A>G (p.Asn115Ser)
n.3811A>G
c.2888A>G (p.Asn963Ser)
n.4668A>G
n.4651A>G
dbSNP gnomAD v4
12g.45852643A>TCA384491895ARID2c.4520A>T (p.Asn1507Ile)
c.729A>T
c.4441A>T
c.4073A>T (p.Asn1358Ile)
c.3350A>T (p.Asn1117Ile)
c.344A>T (p.Asn115Ile)
n.3811A>T
c.2888A>T (p.Asn963Ile)
n.4668A>T
n.4651A>T
dbSNP
12g.45852644T>ACA384491896ARID2c.4521T>A (p.Asn1507Lys)
c.730T>A
c.4442T>A
c.4074T>A (p.Asn1358Lys)
c.3351T>A (p.Asn1117Lys)
c.345T>A (p.Asn115Lys)
n.3812T>A
c.2889T>A (p.Asn963Lys)
n.4669T>A
n.4652T>A
12g.45852644T>CCA479693884ARID2c.4521T>C (p.Asn1507=)
c.730T>C
c.4442T>C
c.4074T>C (p.Asn1358=)
c.3351T>C (p.Asn1117=)
c.345T>C (p.Asn115=)
n.3812T>C
c.2889T>C (p.Asn963=)
n.4669T>C
n.4652T>C
12g.45852644T>GCA384491897ARID2c.4521T>G (p.Asn1507Lys)
c.730T>G
c.4442T>G
c.4074T>G (p.Asn1358Lys)
c.3351T>G (p.Asn1117Lys)
c.345T>G (p.Asn115Lys)
n.3812T>G
c.2889T>G (p.Asn963Lys)
n.4669T>G
n.4652T>G
dbSNP
12g.45852645G>ACA384491898ARID2c.4522G>A (p.Gly1508Ser)
c.731G>A
c.4443G>A
c.4075G>A (p.Gly1359Ser)
c.3352G>A (p.Gly1118Ser)
c.346G>A (p.Gly116Ser)
n.3813G>A
c.2890G>A (p.Gly964Ser)
n.4670G>A
n.4653G>A
dbSNP
12g.45852645G>CCA384491899ARID2c.4522G>C (p.Gly1508Arg)
c.731G>C
c.4443G>C
c.4075G>C (p.Gly1359Arg)
c.3352G>C (p.Gly1118Arg)
c.346G>C (p.Gly116Arg)
n.3813G>C
c.2890G>C (p.Gly964Arg)
n.4670G>C
n.4653G>C
dbSNP
12g.45852645G>TCA384491900ARID2c.4522G>T (p.Gly1508Cys)
c.731G>T
c.4443G>T
c.4075G>T (p.Gly1359Cys)
c.3352G>T (p.Gly1118Cys)
c.346G>T (p.Gly116Cys)
n.3813G>T
c.2890G>T (p.Gly964Cys)
n.4670G>T
n.4653G>T
dbSNP
12g.45852646delCA2618443261ARID2c.4523del (p.Gly1508AlafsTer8)
c.732del
c.4444del
c.4076del (p.Gly1359AlafsTer8)
c.3353del (p.Gly1118AlafsTer8)
c.347del (p.Gly116AlafsTer8)
n.3814del
c.2891del (p.Gly964AlafsTer8)
n.4671del
n.4654del
gnomAD v4
12g.45852646G>ACA384491901ARID2c.4523G>A (p.Gly1508Asp)
c.732G>A
c.4444G>A
c.4076G>A (p.Gly1359Asp)
c.3353G>A (p.Gly1118Asp)
c.347G>A (p.Gly116Asp)
n.3814G>A
c.2891G>A (p.Gly964Asp)
n.4671G>A
n.4654G>A
dbSNP
12g.45852646G>CCA384491903ARID2c.4523G>C (p.Gly1508Ala)
c.732G>C
c.4444G>C
c.4076G>C (p.Gly1359Ala)
c.3353G>C (p.Gly1118Ala)
c.347G>C (p.Gly116Ala)
n.3814G>C
c.2891G>C (p.Gly964Ala)
n.4671G>C
n.4654G>C
dbSNP
12g.45852646G>TCA384491902ARID2c.4523G>T (p.Gly1508Val)
c.732G>T
c.4444G>T
c.4076G>T (p.Gly1359Val)
c.3353G>T (p.Gly1118Val)
c.347G>T (p.Gly116Val)
n.3814G>T
c.2891G>T (p.Gly964Val)
n.4671G>T
n.4654G>T
dbSNP
12g.45852647C>ACA479693885ARID2c.4524C>A (p.Gly1508=)
c.733C>A
c.4445C>A
c.4077C>A (p.Gly1359=)
c.3354C>A (p.Gly1118=)
c.348C>A (p.Gly116=)
n.3815C>A
c.2892C>A (p.Gly964=)
n.4672C>A
n.4655C>A
dbSNP
12g.45852647C=CA2033475716ARID2c.4524C= (p.Gly1508=)
c.733C=
c.4445C=
c.4077C= (p.Gly1359=)
c.3354C= (p.Gly1118=)
c.348C= (p.Gly116=)
n.3815C=
c.2892C= (p.Gly964=)
n.4672C=
n.4655C=
12g.45852647C>GCA479693886ARID2c.4524C>G (p.Gly1508=)
c.733C>G
c.4445C>G
c.4077C>G (p.Gly1359=)
c.3354C>G (p.Gly1118=)
c.348C>G (p.Gly116=)
n.3815C>G
c.2892C>G (p.Gly964=)
n.4672C>G
n.4655C>G
dbSNP
12g.45852647C>TCA236400818ARID2c.4524C>T (p.Gly1508=)
c.733C>T
c.4445C>T
c.4077C>T (p.Gly1359=)
c.3354C>T (p.Gly1118=)
c.348C>T (p.Gly116=)
n.3815C>T
c.2892C>T (p.Gly964=)
n.4672C>T
n.4655C>T
dbSNP gnomAD v2 gnomAD v4
12g.45852648A>CCA384491904ARID2c.4525A>C (p.Thr1509Pro)
c.734A>C
c.4446A>C
c.4078A>C (p.Thr1360Pro)
c.3355A>C (p.Thr1119Pro)
c.349A>C (p.Thr117Pro)
n.3816A>C
c.2893A>C (p.Thr965Pro)
n.4673A>C
n.4656A>C
dbSNP
12g.45852648A>GCA384491905ARID2c.4525A>G (p.Thr1509Ala)
c.734A>G
c.4446A>G
c.4078A>G (p.Thr1360Ala)
c.3355A>G (p.Thr1119Ala)
c.349A>G (p.Thr117Ala)
n.3816A>G
c.2893A>G (p.Thr965Ala)
n.4673A>G
n.4656A>G
dbSNP
12g.45852648A>TCA384491906ARID2c.4525A>T (p.Thr1509Ser)
c.734A>T
c.4446A>T
c.4078A>T (p.Thr1360Ser)
c.3355A>T (p.Thr1119Ser)
c.349A>T (p.Thr117Ser)
n.3816A>T
c.2893A>T (p.Thr965Ser)
n.4673A>T
n.4656A>T
dbSNP
12g.45852649C>ACA384491907ARID2c.4526C>A (p.Thr1509Lys)
c.735C>A
c.4447C>A
c.4079C>A (p.Thr1360Lys)
c.3356C>A (p.Thr1119Lys)
c.350C>A (p.Thr117Lys)
n.3817C>A
c.2894C>A (p.Thr965Lys)
n.4674C>A
n.4657C>A
dbSNP
12g.45852649C=CA2033475717ARID2c.4526C= (p.Thr1509=)
c.735C=
c.4447C=
c.4079C= (p.Thr1360=)
c.3356C= (p.Thr1119=)
c.350C= (p.Thr117=)
n.3817C=
c.2894C= (p.Thr965=)
n.4674C=
n.4657C=
12g.45852649C>GCA384491908ARID2c.4526C>G (p.Thr1509Arg)
c.735C>G
c.4447C>G
c.4079C>G (p.Thr1360Arg)
c.3356C>G (p.Thr1119Arg)
c.350C>G (p.Thr117Arg)
n.3817C>G
c.2894C>G (p.Thr965Arg)
n.4674C>G
n.4657C>G
dbSNP
12g.45852649C>TCA384491909ARID2c.4526C>T (p.Thr1509Ile)
c.735C>T
c.4447C>T
c.4079C>T (p.Thr1360Ile)
c.3356C>T (p.Thr1119Ile)
c.350C>T (p.Thr117Ile)
n.3817C>T
c.2894C>T (p.Thr965Ile)
n.4674C>T
n.4657C>T
dbSNP gnomAD v2 gnomAD v4
12g.45852650A>CCA479693887ARID2c.4527A>C (p.Thr1509=)
c.736A>C
c.4448A>C
c.4080A>C (p.Thr1360=)
c.3357A>C (p.Thr1119=)
c.351A>C (p.Thr117=)
n.3818A>C
c.2895A>C (p.Thr965=)
n.4675A>C
n.4658A>C
12g.45852650A>GCA479693888ARID2c.4527A>G (p.Thr1509=)
c.736A>G
c.4448A>G
c.4080A>G (p.Thr1360=)
c.3357A>G (p.Thr1119=)
c.351A>G (p.Thr117=)
n.3818A>G
c.2895A>G (p.Thr965=)
n.4675A>G
n.4658A>G
dbSNP
12g.45852650A>TCA479693889ARID2c.4527A>T (p.Thr1509=)
c.736A>T
c.4448A>T
c.4080A>T (p.Thr1360=)
c.3357A>T (p.Thr1119=)
c.351A>T (p.Thr117=)
n.3818A>T
c.2895A>T (p.Thr965=)
n.4675A>T
n.4658A>T
dbSNP
12g.45852651G>ACA384491910ARID2c.4528G>A (p.Ala1510Thr)
c.737G>A
c.4449G>A
c.4081G>A (p.Ala1361Thr)
c.3358G>A (p.Ala1120Thr)
c.352G>A (p.Ala118Thr)
n.3819G>A
c.2896G>A (p.Ala966Thr)
n.4676G>A
n.4659G>A
dbSNP
12g.45852651G>CCA384491911ARID2c.4528G>C (p.Ala1510Pro)
c.737G>C
c.4449G>C
c.4081G>C (p.Ala1361Pro)
c.3358G>C (p.Ala1120Pro)
c.352G>C (p.Ala118Pro)
n.3819G>C
c.2896G>C (p.Ala966Pro)
n.4676G>C
n.4659G>C
dbSNP
12g.45852651G>TCA384491912ARID2c.4528G>T (p.Ala1510Ser)
c.737G>T
c.4449G>T
c.4081G>T (p.Ala1361Ser)
c.3358G>T (p.Ala1120Ser)
c.352G>T (p.Ala118Ser)
n.3819G>T
c.2896G>T (p.Ala966Ser)
n.4676G>T
n.4659G>T
dbSNP
12g.45852652C>ACA384491913ARID2c.4529C>A (p.Ala1510Glu)
c.738C>A
c.4450C>A
c.4082C>A (p.Ala1361Glu)
c.3359C>A (p.Ala1120Glu)
c.353C>A (p.Ala118Glu)
n.3820C>A
c.2897C>A (p.Ala966Glu)
n.4677C>A
n.4660C>A
dbSNP
12g.45852652C=CA2033475718ARID2c.4529C= (p.Ala1510=)
c.738C=
c.4450C=
c.4082C= (p.Ala1361=)
c.3359C= (p.Ala1120=)
c.353C= (p.Ala118=)
n.3820C=
c.2897C= (p.Ala966=)
n.4677C=
n.4660C=
12g.45852652C>GCA384491914ARID2c.4529C>G (p.Ala1510Gly)
c.738C>G
c.4450C>G
c.4082C>G (p.Ala1361Gly)
c.3359C>G (p.Ala1120Gly)
c.353C>G (p.Ala118Gly)
n.3820C>G
c.2897C>G (p.Ala966Gly)
n.4677C>G
n.4660C>G
dbSNP
12g.45852652C>TCA384491915ARID2c.4529C>T (p.Ala1510Val)
c.738C>T
c.4450C>T
c.4082C>T (p.Ala1361Val)
c.3359C>T (p.Ala1120Val)
c.353C>T (p.Ala118Val)
n.3820C>T
c.2897C>T (p.Ala966Val)
n.4677C>T
n.4660C>T
dbSNP gnomAD v3 gnomAD v4
12g.45852653A>CCA479693890ARID2c.4530A>C (p.Ala1510=)
c.739A>C
c.4451A>C
c.4083A>C (p.Ala1361=)
c.3360A>C (p.Ala1120=)
c.354A>C (p.Ala118=)
n.3821A>C
c.2898A>C (p.Ala966=)
n.4678A>C
n.4661A>C
12g.45852653A>GCA479693891ARID2c.4530A>G (p.Ala1510=)
c.739A>G
c.4451A>G
c.4083A>G (p.Ala1361=)
c.3360A>G (p.Ala1120=)
c.354A>G (p.Ala118=)
n.3821A>G
c.2898A>G (p.Ala966=)
n.4678A>G
n.4661A>G
gnomAD v4
12g.45852653A>TCA479693892ARID2c.4530A>T (p.Ala1510=)
c.739A>T
c.4451A>T
c.4083A>T (p.Ala1361=)
c.3360A>T (p.Ala1120=)
c.354A>T (p.Ala118=)
n.3821A>T
c.2898A>T (p.Ala966=)
n.4678A>T
n.4661A>T
dbSNP
12g.45852654G>ACA384491917ARID2c.4531G>A (p.Glu1511Lys)
c.740G>A
c.4452G>A
c.4084G>A (p.Glu1362Lys)
c.3361G>A (p.Glu1121Lys)
c.355G>A (p.Glu119Lys)
n.3822G>A
c.2899G>A (p.Glu967Lys)
n.4679G>A
n.4662G>A
12g.45852654G>CCA384491918ARID2c.4531G>C (p.Glu1511Gln)
c.740G>C
c.4452G>C
c.4084G>C (p.Glu1362Gln)
c.3361G>C (p.Glu1121Gln)
c.355G>C (p.Glu119Gln)
n.3822G>C
c.2899G>C (p.Glu967Gln)
n.4679G>C
n.4662G>C
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.45852654G=CA2033475719ARID2c.4531G= (p.Glu1511=)
c.740G=
c.4452G=
c.4084G= (p.Glu1362=)
c.3361G= (p.Glu1121=)
c.355G= (p.Glu119=)
n.3822G=
c.2899G= (p.Glu967=)
n.4679G=
n.4662G=
12g.45852654G>TCA384491916ARID2c.4531G>T (p.Glu1511Ter)
c.740G>T
c.4452G>T
c.4084G>T (p.Glu1362Ter)
c.3361G>T (p.Glu1121Ter)
c.355G>T (p.Glu119Ter)
n.3822G>T
c.2899G>T (p.Glu967Ter)
n.4679G>T
n.4662G>T
COSMIC
12g.45852655A=CA2033475720ARID2c.4532A= (p.Glu1511=)
c.741A=
c.4453A=
c.4085A= (p.Glu1362=)
c.3362A= (p.Glu1121=)
c.356A= (p.Glu119=)
n.3823A=
c.2900A= (p.Glu967=)
n.4680A=
n.4663A=
12g.45852655A>CCA384491919ARID2c.4532A>C (p.Glu1511Ala)
c.741A>C
c.4453A>C
c.4085A>C (p.Glu1362Ala)
c.3362A>C (p.Glu1121Ala)
c.356A>C (p.Glu119Ala)
n.3823A>C
c.2900A>C (p.Glu967Ala)
n.4680A>C
n.4663A>C
dbSNP gnomAD v2 gnomAD v4
12g.45852655A>GCA384491920ARID2c.4532A>G (p.Glu1511Gly)
c.741A>G
c.4453A>G
c.4085A>G (p.Glu1362Gly)
c.3362A>G (p.Glu1121Gly)
c.356A>G (p.Glu119Gly)
n.3823A>G
c.2900A>G (p.Glu967Gly)
n.4680A>G
n.4663A>G
dbSNP gnomAD v4
12g.45852655A>TCA384491921ARID2c.4532A>T (p.Glu1511Val)
c.741A>T
c.4453A>T
c.4085A>T (p.Glu1362Val)
c.3362A>T (p.Glu1121Val)
c.356A>T (p.Glu119Val)
n.3823A>T
c.2900A>T (p.Glu967Val)
n.4680A>T
n.4663A>T
dbSNP
12g.45852656delCA645571101ARID2c.4533del (p.Glu1511AspfsTer5)
c.742del
c.4454del
c.4086del (p.Glu1362AspfsTer5)
c.3363del (p.Glu1121AspfsTer5)
c.357del (p.Glu119AspfsTer5)
n.3824del
c.2901del (p.Glu967AspfsTer5)
n.4681del
n.4664del
COSMIC COSMIC
12g.45852656A>CCA384491922ARID2c.4533A>C (p.Glu1511Asp)
c.742A>C
c.4454A>C
c.4086A>C (p.Glu1362Asp)
c.3363A>C (p.Glu1121Asp)
c.357A>C (p.Glu119Asp)
n.3824A>C
c.2901A>C (p.Glu967Asp)
n.4681A>C
n.4664A>C
12g.45852656A>GCA479694075ARID2c.4533A>G (p.Glu1511=)
c.742A>G
c.4454A>G
c.4086A>G (p.Glu1362=)
c.3363A>G (p.Glu1121=)
c.357A>G (p.Glu119=)
n.3824A>G
c.2901A>G (p.Glu967=)
n.4681A>G
n.4664A>G
12g.45852656A>TCA384491923ARID2c.4533A>T (p.Glu1511Asp)
c.742A>T
c.4454A>T
c.4086A>T (p.Glu1362Asp)
c.3363A>T (p.Glu1121Asp)
c.357A>T (p.Glu119Asp)
n.3824A>T
c.2901A>T (p.Glu967Asp)
n.4681A>T
n.4664A>T
dbSNP gnomAD v4
12g.45852657T>ACA384491925ARID2c.4534T>A (p.Cys1512Ser)
c.743T>A
c.4455T>A
c.4087T>A (p.Cys1363Ser)
c.3364T>A (p.Cys1122Ser)
c.358T>A (p.Cys120Ser)
n.3825T>A
c.2902T>A (p.Cys968Ser)
n.4682T>A
n.4665T>A
dbSNP
12g.45852657T>CCA6526682ARID2c.4534T>C (p.Cys1512Arg)
c.743T>C
c.4455T>C
c.4087T>C (p.Cys1363Arg)
c.3364T>C (p.Cys1122Arg)
c.358T>C (p.Cys120Arg)
n.3825T>C
c.2902T>C (p.Cys968Arg)
n.4682T>C
n.4665T>C
dbSNP ExAC gnomAD v2
12g.45852657T>GCA384491924ARID2c.4534T>G (p.Cys1512Gly)
c.743T>G
c.4455T>G
c.4087T>G (p.Cys1363Gly)
c.3364T>G (p.Cys1122Gly)
c.358T>G (p.Cys120Gly)
n.3825T>G
c.2902T>G (p.Cys968Gly)
n.4682T>G
n.4665T>G
ClinVar dbSNP
12g.45852657T=CA2033475721ARID2c.4534T= (p.Cys1512=)
c.743T=
c.4455T=
c.4087T= (p.Cys1363=)
c.3364T= (p.Cys1122=)
c.358T= (p.Cys120=)
n.3825T=
c.2902T= (p.Cys968=)
n.4682T=
n.4665T=
12g.45852658G>ACA384491926ARID2c.4535G>A (p.Cys1512Tyr)
c.744G>A
c.4456G>A
c.4088G>A (p.Cys1363Tyr)
c.3365G>A (p.Cys1122Tyr)
c.359G>A (p.Cys120Tyr)
n.3826G>A
c.2903G>A (p.Cys968Tyr)
n.4683G>A
n.4666G>A
12g.45852658G>CCA384491927ARID2c.4535G>C (p.Cys1512Ser)
c.744G>C
c.4456G>C
c.4088G>C (p.Cys1363Ser)
c.3365G>C (p.Cys1122Ser)
c.359G>C (p.Cys120Ser)
n.3826G>C
c.2903G>C (p.Cys968Ser)
n.4683G>C
n.4666G>C
dbSNP
12g.45852658G>TCA384491928ARID2c.4535G>T (p.Cys1512Phe)
c.744G>T
c.4456G>T
c.4088G>T (p.Cys1363Phe)
c.3365G>T (p.Cys1122Phe)
c.359G>T (p.Cys120Phe)
n.3826G>T
c.2903G>T (p.Cys968Phe)
n.4683G>T
n.4666G>T
12g.45852658_45852668delCA645571102ARID2c.4535_4545del (p.Cys1512Ter)
c.744_754del
c.4456_4466del
c.4088_4098del (p.Cys1363Ter)
c.3365_3375del (p.Cys1122Ter)
c.359_369del (p.Cys120Ter)
n.3826_3836del
c.2903_2913del (p.Cys968Ter)
n.4683_4693del
n.4666_4676del
COSMIC
12g.45852659C>ACA384491929ARID2c.4536C>A (p.Cys1512Ter)
c.745C>A
c.4457C>A
c.4089C>A (p.Cys1363Ter)
c.3366C>A (p.Cys1122Ter)
c.360C>A (p.Cys120Ter)
n.3827C>A
c.2904C>A (p.Cys968Ter)
n.4684C>A
n.4667C>A
12g.45852659C>GCA384491930ARID2c.4536C>G (p.Cys1512Trp)
c.745C>G
c.4457C>G
c.4089C>G (p.Cys1363Trp)
c.3366C>G (p.Cys1122Trp)
c.360C>G (p.Cys120Trp)
n.3827C>G
c.2904C>G (p.Cys968Trp)
n.4684C>G
n.4667C>G
12g.45852659C>TCA479694076ARID2c.4536C>T (p.Cys1512=)
c.745C>T
c.4457C>T
c.4089C>T (p.Cys1363=)
c.3366C>T (p.Cys1122=)
c.360C>T (p.Cys120=)
n.3827C>T
c.2904C>T (p.Cys968=)
n.4684C>T
n.4667C>T
12g.45852660A>CCA384491931ARID2c.4537A>C (p.Lys1513Gln)
c.746A>C
c.4458A>C
c.4090A>C (p.Lys1364Gln)
c.3367A>C (p.Lys1123Gln)
c.361A>C (p.Lys121Gln)
n.3828A>C
c.2905A>C (p.Lys969Gln)
n.4685A>C
n.4668A>C
12g.45852660A>GCA384491933ARID2c.4537A>G (p.Lys1513Glu)
c.746A>G
c.4458A>G
c.4090A>G (p.Lys1364Glu)
c.3367A>G (p.Lys1123Glu)
c.361A>G (p.Lys121Glu)
n.3828A>G
c.2905A>G (p.Lys969Glu)
n.4685A>G
n.4668A>G
dbSNP
12g.45852660A>TCA384491932ARID2c.4537A>T (p.Lys1513Ter)
c.746A>T
c.4458A>T
c.4090A>T (p.Lys1364Ter)
c.3367A>T (p.Lys1123Ter)
c.361A>T (p.Lys121Ter)
n.3828A>T
c.2905A>T (p.Lys969Ter)
n.4685A>T
n.4668A>T
dbSNP
12g.45852661A=CA2033475722ARID2c.4538A= (p.Lys1513=)
c.747A=
c.4459A=
c.4091A= (p.Lys1364=)
c.3368A= (p.Lys1123=)
c.362A= (p.Lys121=)
n.3829A=
c.2906A= (p.Lys969=)
n.4686A=
n.4669A=
12g.45852661A>CCA384491934ARID2c.4538A>C (p.Lys1513Thr)
c.747A>C
c.4459A>C
c.4091A>C (p.Lys1364Thr)
c.3368A>C (p.Lys1123Thr)
c.362A>C (p.Lys121Thr)
n.3829A>C
c.2906A>C (p.Lys969Thr)
n.4686A>C
n.4669A>C
12g.45852661A>GCA384491936ARID2c.4538A>G (p.Lys1513Arg)
c.747A>G
c.4459A>G
c.4091A>G (p.Lys1364Arg)
c.3368A>G (p.Lys1123Arg)
c.362A>G (p.Lys121Arg)
n.3829A>G
c.2906A>G (p.Lys969Arg)
n.4686A>G
n.4669A>G
ClinVar dbSNP gnomAD v4
12g.45852661A>TCA384491935ARID2c.4538A>T (p.Lys1513Ile)
c.747A>T
c.4459A>T
c.4091A>T (p.Lys1364Ile)
c.3368A>T (p.Lys1123Ile)
c.362A>T (p.Lys121Ile)
n.3829A>T
c.2906A>T (p.Lys969Ile)
n.4686A>T
n.4669A>T
dbSNP
12g.45852662A>CCA384491937ARID2c.4539A>C (p.Lys1513Asn)
c.748A>C
c.4460A>C
c.4092A>C (p.Lys1364Asn)
c.3369A>C (p.Lys1123Asn)
c.363A>C (p.Lys121Asn)
n.3830A>C
c.2907A>C (p.Lys969Asn)
n.4687A>C
n.4670A>C
12g.45852662A>GCA479694077ARID2c.4539A>G (p.Lys1513=)
c.748A>G
c.4460A>G
c.4092A>G (p.Lys1364=)
c.3369A>G (p.Lys1123=)
c.363A>G (p.Lys121=)
n.3830A>G
c.2907A>G (p.Lys969=)
n.4687A>G
n.4670A>G
12g.45852662A>TCA384491938ARID2c.4539A>T (p.Lys1513Asn)
c.748A>T
c.4460A>T
c.4092A>T (p.Lys1364Asn)
c.3369A>T (p.Lys1123Asn)
c.363A>T (p.Lys121Asn)
n.3830A>T
c.2907A>T (p.Lys969Asn)
n.4687A>T
n.4670A>T
dbSNP
12g.45852663A=CA2033475723ARID2c.4540A= (p.Thr1514=)
c.749A=
c.4461A=
c.4093A= (p.Thr1365=)
c.3370A= (p.Thr1124=)
c.364A= (p.Thr122=)
n.3831A=
c.2908A= (p.Thr970=)
n.4688A=
n.4671A=
12g.45852663A>CCA384491939ARID2c.4540A>C (p.Thr1514Pro)
c.749A>C
c.4461A>C
c.4093A>C (p.Thr1365Pro)
c.3370A>C (p.Thr1124Pro)
c.364A>C (p.Thr122Pro)
n.3831A>C
c.2908A>C (p.Thr970Pro)
n.4688A>C
n.4671A>C
dbSNP
12g.45852663A>GCA384491940ARID2c.4540A>G (p.Thr1514Ala)
c.749A>G
c.4461A>G
c.4093A>G (p.Thr1365Ala)
c.3370A>G (p.Thr1124Ala)
c.364A>G (p.Thr122Ala)
n.3831A>G
c.2908A>G (p.Thr970Ala)
n.4688A>G
n.4671A>G
dbSNP gnomAD v4
12g.45852663A>TCA384491941ARID2c.4540A>T (p.Thr1514Ser)
c.749A>T
c.4461A>T
c.4093A>T (p.Thr1365Ser)
c.3370A>T (p.Thr1124Ser)
c.364A>T (p.Thr122Ser)
n.3831A>T
c.2908A>T (p.Thr970Ser)
n.4688A>T
n.4671A>T
dbSNP
12g.45852663_45852664delinsGAACA2499221641ARID2c.4540_4541delinsGAA (p.Thr1514GlufsTer10)
c.749_750delinsGAA
c.4461_4462delinsGAA
c.4093_4094delinsGAA (p.Thr1365GlufsTer10)
c.3370_3371delinsGAA (p.Thr1124GlufsTer10)
c.364_365delinsGAA (p.Thr122GlufsTer10)
n.3831_3832delinsGAA
c.2908_2909delinsGAA (p.Thr970GlufsTer10)
n.4688_4689delinsGAA
n.4671_4672delinsGAA
ClinVar dbSNP
12g.45852664C>ACA384491942ARID2c.4541C>A (p.Thr1514Asn)
c.750C>A
c.4462C>A
c.4094C>A (p.Thr1365Asn)
c.3371C>A (p.Thr1124Asn)
c.365C>A (p.Thr122Asn)
n.3832C>A
c.2909C>A (p.Thr970Asn)
n.4689C>A
n.4672C>A
12g.45852664C>GCA384491943ARID2c.4541C>G (p.Thr1514Ser)
c.750C>G
c.4462C>G
c.4094C>G (p.Thr1365Ser)
c.3371C>G (p.Thr1124Ser)
c.365C>G (p.Thr122Ser)
n.3832C>G
c.2909C>G (p.Thr970Ser)
n.4689C>G
n.4672C>G
12g.45852664C>TCA384491944ARID2c.4541C>T (p.Thr1514Ile)
c.750C>T
c.4462C>T
c.4094C>T (p.Thr1365Ile)
c.3371C>T (p.Thr1124Ile)
c.365C>T (p.Thr122Ile)
n.3832C>T
c.2909C>T (p.Thr970Ile)
n.4689C>T
n.4672C>T
12g.45852665T>ACA479694079ARID2c.4542T>A (p.Thr1514=)
c.751T>A
c.4463T>A
c.4095T>A (p.Thr1365=)
c.3372T>A (p.Thr1124=)
c.366T>A (p.Thr122=)
n.3833T>A
c.2910T>A (p.Thr970=)
n.4690T>A
n.4673T>A
12g.45852665T>CCA479694080ARID2c.4542T>C (p.Thr1514=)
c.751T>C
c.4463T>C
c.4095T>C (p.Thr1365=)
c.3372T>C (p.Thr1124=)
c.366T>C (p.Thr122=)
n.3833T>C
c.2910T>C (p.Thr970=)
n.4690T>C
n.4673T>C
12g.45852665T>GCA479694078ARID2c.4542T>G (p.Thr1514=)
c.751T>G
c.4463T>G
c.4095T>G (p.Thr1365=)
c.3372T>G (p.Thr1124=)
c.366T>G (p.Thr122=)
n.3833T>G
c.2910T>G (p.Thr970=)
n.4690T>G
n.4673T>G
12g.45852666G>ACA384491945ARID2c.4543G>A (p.Val1515Ile)
c.752G>A
c.4464G>A
c.4096G>A (p.Val1366Ile)
c.3373G>A (p.Val1125Ile)
c.367G>A (p.Val123Ile)
n.3834G>A
c.2911G>A (p.Val971Ile)
n.4691G>A
n.4674G>A
dbSNP
12g.45852666G>CCA384491946ARID2c.4543G>C (p.Val1515Leu)
c.752G>C
c.4464G>C
c.4096G>C (p.Val1366Leu)
c.3373G>C (p.Val1125Leu)
c.367G>C (p.Val123Leu)
n.3834G>C
c.2911G>C (p.Val971Leu)
n.4691G>C
n.4674G>C
ClinVar dbSNP gnomAD v3 gnomAD v4
12g.45852666G=CA2033475724ARID2c.4543G= (p.Val1515=)
c.752G=
c.4464G=
c.4096G= (p.Val1366=)
c.3373G= (p.Val1125=)
c.367G= (p.Val123=)
n.3834G=
c.2911G= (p.Val971=)
n.4691G=
n.4674G=
12g.45852666G>TCA384491947ARID2c.4543G>T (p.Val1515Leu)
c.752G>T
c.4464G>T
c.4096G>T (p.Val1366Leu)
c.3373G>T (p.Val1125Leu)
c.367G>T (p.Val123Leu)
n.3834G>T
c.2911G>T (p.Val971Leu)
n.4691G>T
n.4674G>T
12g.45852667T>ACA384491950ARID2c.4544T>A (p.Val1515Glu)
c.753T>A
c.4465T>A
c.4097T>A (p.Val1366Glu)
c.3374T>A (p.Val1125Glu)
c.368T>A (p.Val123Glu)
n.3835T>A
c.2912T>A (p.Val971Glu)
n.4692T>A
n.4675T>A
12g.45852667T>CCA384491949ARID2c.4544T>C (p.Val1515Ala)
c.753T>C
c.4465T>C
c.4097T>C (p.Val1366Ala)
c.3374T>C (p.Val1125Ala)
c.368T>C (p.Val123Ala)
n.3835T>C
c.2912T>C (p.Val971Ala)
n.4692T>C
n.4675T>C
12g.45852667T>GCA384491948ARID2c.4544T>G (p.Val1515Gly)
c.753T>G
c.4465T>G
c.4097T>G (p.Val1366Gly)
c.3374T>G (p.Val1125Gly)
c.368T>G (p.Val123Gly)
n.3835T>G
c.2912T>G (p.Val971Gly)
n.4692T>G
n.4675T>G
dbSNP
12g.45852668A=CA2033475725ARID2c.4545A= (p.Val1515=)
c.754A=
c.4466A=
c.4098A= (p.Val1366=)
c.3375A= (p.Val1125=)
c.369A= (p.Val123=)
n.3836A=
c.2913A= (p.Val971=)
n.4693A=
n.4676A=
12g.45852668A>CCA479694082ARID2c.4545A>C (p.Val1515=)
c.754A>C
c.4466A>C
c.4098A>C (p.Val1366=)
c.3375A>C (p.Val1125=)
c.369A>C (p.Val123=)
n.3836A>C
c.2913A>C (p.Val971=)
n.4693A>C
n.4676A>C
12g.45852668A>GCA6526683ARID2c.4545A>G (p.Val1515=)
c.754A>G
c.4466A>G
c.4098A>G (p.Val1366=)
c.3375A>G (p.Val1125=)
c.369A>G (p.Val123=)
n.3836A>G
c.2913A>G (p.Val971=)
n.4693A>G
n.4676A>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.45852668A>TCA479694081ARID2c.4545A>T (p.Val1515=)
c.754A>T
c.4466A>T
c.4098A>T (p.Val1366=)
c.3375A>T (p.Val1125=)
c.369A>T (p.Val123=)
n.3836A>T
c.2913A>T (p.Val971=)
n.4693A>T
n.4676A>T
dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched