Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.157206364_157206384delCA2680893744ARID1Bc.5433_5453del (p.Asp1811_Asp1817del)
c.5502_5522del (p.Asp1834_Asp1840del)
c.5721_5741del (p.Asp1907_Asp1913del)
c.5472_5492del (p.Asp1824_Asp1830del)
c.5184_5204del (p.Asp1728_Asp1734del)
c.3750_3770del (p.Asp1250_Asp1256del)
c.2913_2933del (p.Asp971_Asp977del)
c.2544_2564del (p.Asp848_Asp854del)
n.4055_4075del
n.1512_1532del
c.5592_5612del (p.Asp1864_Asp1870del)
n.3589_3609del
c.2960_2980del
c.2874_2894del
n.2258_2278del
c.2934_2954del (p.Asp978_Asp984del)
c.3093_3113del (p.Asp1031_Asp1037del)
n.2707_2727del
c.5223_5243del (p.Asp1741_Asp1747del)
c.5343_5363del (p.Asp1781_Asp1787del)
c.4422_4442del (p.Asp1474_Asp1480del)
c.4242_4262del (p.Asp1414_Asp1420del)
c.4002_4022del (p.Asp1334_Asp1340del)
c.3621_3641del (p.Asp1207_Asp1213del)
c.2484_2504del (p.Asp828_Asp834del)
c.5553_5573del (p.Asp1851_Asp1857del)
c.5454_5474del (p.Asp1818_Asp1824del)
c.5424_5444del (p.Asp1808_Asp1814del)
c.5394_5414del (p.Asp1798_Asp1804del)
c.5265_5285del (p.Asp1755_Asp1761del)
c.5244_5264del (p.Asp1748_Asp1754del)
n.5539_5559del
gnomAD v4
6g.157206379_157206381delCA571903907ARID1Bc.5448_5450del (p.Glu1816del)
c.5517_5519del (p.Glu1839del)
c.5736_5738del (p.Glu1912del)
c.5487_5489del (p.Glu1829del)
c.5199_5201del (p.Glu1733del)
c.3765_3767del (p.Glu1255del)
c.2928_2930del (p.Glu976del)
c.2559_2561del (p.Glu853del)
n.4070_4072del
n.1527_1529del
c.5607_5609del (p.Glu1869del)
n.3604_3606del
c.2975_2977del
c.2889_2891del
n.2273_2275del
c.2949_2951del (p.Glu983del)
c.3108_3110del (p.Glu1036del)
n.2722_2724del
c.5238_5240del (p.Glu1746del)
c.5358_5360del (p.Glu1786del)
c.4437_4439del (p.Glu1479del)
c.4257_4259del (p.Glu1419del)
c.4017_4019del (p.Glu1339del)
c.3636_3638del (p.Glu1212del)
c.2499_2501del (p.Glu833del)
c.5568_5570del (p.Glu1856del)
c.5469_5471del (p.Glu1823del)
c.5439_5441del (p.Glu1813del)
c.5409_5411del (p.Glu1803del)
c.5280_5282del (p.Glu1760del)
c.5259_5261del (p.Glu1753del)
n.5554_5556del
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.157206379G>ACA452978483ARID1Bc.5448G>A (p.Glu1816=)
c.5517G>A (p.Glu1839=)
c.5736G>A (p.Glu1912=)
c.5487G>A (p.Glu1829=)
c.5199G>A (p.Glu1733=)
c.3765G>A (p.Glu1255=)
c.2928G>A (p.Glu976=)
c.2559G>A (p.Glu853=)
n.4070G>A
n.1527G>A
c.5607G>A (p.Glu1869=)
n.3604G>A
c.2975G>A
c.2889G>A
n.2273G>A
c.2949G>A (p.Glu983=)
c.3108G>A (p.Glu1036=)
n.2722G>A
c.5238G>A (p.Glu1746=)
c.5358G>A (p.Glu1786=)
c.4437G>A (p.Glu1479=)
c.4257G>A (p.Glu1419=)
c.4017G>A (p.Glu1339=)
c.3636G>A (p.Glu1212=)
c.2499G>A (p.Glu833=)
c.5568G>A (p.Glu1856=)
c.5469G>A (p.Glu1823=)
c.5439G>A (p.Glu1813=)
c.5409G>A (p.Glu1803=)
c.5280G>A (p.Glu1760=)
c.5259G>A (p.Glu1753=)
n.5554G>A
dbSNP
6g.157206379G>CCA366246137ARID1Bc.5448G>C (p.Glu1816Asp)
c.5517G>C (p.Glu1839Asp)
c.5736G>C (p.Glu1912Asp)
c.5487G>C (p.Glu1829Asp)
c.5199G>C (p.Glu1733Asp)
c.3765G>C (p.Glu1255Asp)
c.2928G>C (p.Glu976Asp)
c.2559G>C (p.Glu853Asp)
n.4070G>C
n.1527G>C
c.5607G>C (p.Glu1869Asp)
n.3604G>C
c.2975G>C
c.2889G>C
n.2273G>C
c.2949G>C (p.Glu983Asp)
c.3108G>C (p.Glu1036Asp)
n.2722G>C
c.5238G>C (p.Glu1746Asp)
c.5358G>C (p.Glu1786Asp)
c.4437G>C (p.Glu1479Asp)
c.4257G>C (p.Glu1419Asp)
c.4017G>C (p.Glu1339Asp)
c.3636G>C (p.Glu1212Asp)
c.2499G>C (p.Glu833Asp)
c.5568G>C (p.Glu1856Asp)
c.5469G>C (p.Glu1823Asp)
c.5439G>C (p.Glu1813Asp)
c.5409G>C (p.Glu1803Asp)
c.5280G>C (p.Glu1760Asp)
c.5259G>C (p.Glu1753Asp)
n.5554G>C
6g.157206379G>TCA366246139ARID1Bc.5448G>T (p.Glu1816Asp)
c.5517G>T (p.Glu1839Asp)
c.5736G>T (p.Glu1912Asp)
c.5487G>T (p.Glu1829Asp)
c.5199G>T (p.Glu1733Asp)
c.3765G>T (p.Glu1255Asp)
c.2928G>T (p.Glu976Asp)
c.2559G>T (p.Glu853Asp)
n.4070G>T
n.1527G>T
c.5607G>T (p.Glu1869Asp)
n.3604G>T
c.2975G>T
c.2889G>T
n.2273G>T
c.2949G>T (p.Glu983Asp)
c.3108G>T (p.Glu1036Asp)
n.2722G>T
c.5238G>T (p.Glu1746Asp)
c.5358G>T (p.Glu1786Asp)
c.4437G>T (p.Glu1479Asp)
c.4257G>T (p.Glu1419Asp)
c.4017G>T (p.Glu1339Asp)
c.3636G>T (p.Glu1212Asp)
c.2499G>T (p.Glu833Asp)
c.5568G>T (p.Glu1856Asp)
c.5469G>T (p.Glu1823Asp)
c.5439G>T (p.Glu1813Asp)
c.5409G>T (p.Glu1803Asp)
c.5280G>T (p.Glu1760Asp)
c.5259G>T (p.Glu1753Asp)
n.5554G>T
6g.157206380G>ACA366246142ARID1Bc.5449G>A (p.Asp1817Asn)
c.5518G>A (p.Asp1840Asn)
c.5737G>A (p.Asp1913Asn)
c.5488G>A (p.Asp1830Asn)
c.5200G>A (p.Asp1734Asn)
c.3766G>A (p.Asp1256Asn)
c.2929G>A (p.Asp977Asn)
c.2560G>A (p.Asp854Asn)
n.4071G>A
n.1528G>A
c.5608G>A (p.Asp1870Asn)
n.3605G>A
c.2976G>A
c.2890G>A
n.2274G>A
c.2950G>A (p.Asp984Asn)
c.3109G>A (p.Asp1037Asn)
n.2723G>A
c.5239G>A (p.Asp1747Asn)
c.5359G>A (p.Asp1787Asn)
c.4438G>A (p.Asp1480Asn)
c.4258G>A (p.Asp1420Asn)
c.4018G>A (p.Asp1340Asn)
c.3637G>A (p.Asp1213Asn)
c.2500G>A (p.Asp834Asn)
c.5569G>A (p.Asp1857Asn)
c.5470G>A (p.Asp1824Asn)
c.5440G>A (p.Asp1814Asn)
c.5410G>A (p.Asp1804Asn)
c.5281G>A (p.Asp1761Asn)
c.5260G>A (p.Asp1754Asn)
n.5555G>A
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.157206380G>CCA366246145ARID1Bc.5449G>C (p.Asp1817His)
c.5518G>C (p.Asp1840His)
c.5737G>C (p.Asp1913His)
c.5488G>C (p.Asp1830His)
c.5200G>C (p.Asp1734His)
c.3766G>C (p.Asp1256His)
c.2929G>C (p.Asp977His)
c.2560G>C (p.Asp854His)
n.4071G>C
n.1528G>C
c.5608G>C (p.Asp1870His)
n.3605G>C
c.2976G>C
c.2890G>C
n.2274G>C
c.2950G>C (p.Asp984His)
c.3109G>C (p.Asp1037His)
n.2723G>C
c.5239G>C (p.Asp1747His)
c.5359G>C (p.Asp1787His)
c.4438G>C (p.Asp1480His)
c.4258G>C (p.Asp1420His)
c.4018G>C (p.Asp1340His)
c.3637G>C (p.Asp1213His)
c.2500G>C (p.Asp834His)
c.5569G>C (p.Asp1857His)
c.5470G>C (p.Asp1824His)
c.5440G>C (p.Asp1814His)
c.5410G>C (p.Asp1804His)
c.5281G>C (p.Asp1761His)
c.5260G>C (p.Asp1754His)
n.5555G>C
6g.157206380G=CA1675530159ARID1Bc.5449G= (p.Asp1817=)
c.5518G= (p.Asp1840=)
c.5737G= (p.Asp1913=)
c.5488G= (p.Asp1830=)
c.5200G= (p.Asp1734=)
c.3766G= (p.Asp1256=)
c.2929G= (p.Asp977=)
c.2560G= (p.Asp854=)
n.4071G=
n.1528G=
c.5608G= (p.Asp1870=)
n.3605G=
c.2976G=
c.2890G=
n.2274G=
c.2950G= (p.Asp984=)
c.3109G= (p.Asp1037=)
n.2723G=
c.5239G= (p.Asp1747=)
c.5359G= (p.Asp1787=)
c.4438G= (p.Asp1480=)
c.4258G= (p.Asp1420=)
c.4018G= (p.Asp1340=)
c.3637G= (p.Asp1213=)
c.2500G= (p.Asp834=)
c.5569G= (p.Asp1857=)
c.5470G= (p.Asp1824=)
c.5440G= (p.Asp1814=)
c.5410G= (p.Asp1804=)
c.5281G= (p.Asp1761=)
c.5260G= (p.Asp1754=)
n.5555G=
6g.157206380G>TCA366246141ARID1Bc.5449G>T (p.Asp1817Tyr)
c.5518G>T (p.Asp1840Tyr)
c.5737G>T (p.Asp1913Tyr)
c.5488G>T (p.Asp1830Tyr)
c.5200G>T (p.Asp1734Tyr)
c.3766G>T (p.Asp1256Tyr)
c.2929G>T (p.Asp977Tyr)
c.2560G>T (p.Asp854Tyr)
n.4071G>T
n.1528G>T
c.5608G>T (p.Asp1870Tyr)
n.3605G>T
c.2976G>T
c.2890G>T
n.2274G>T
c.2950G>T (p.Asp984Tyr)
c.3109G>T (p.Asp1037Tyr)
n.2723G>T
c.5239G>T (p.Asp1747Tyr)
c.5359G>T (p.Asp1787Tyr)
c.4438G>T (p.Asp1480Tyr)
c.4258G>T (p.Asp1420Tyr)
c.4018G>T (p.Asp1340Tyr)
c.3637G>T (p.Asp1213Tyr)
c.2500G>T (p.Asp834Tyr)
c.5569G>T (p.Asp1857Tyr)
c.5470G>T (p.Asp1824Tyr)
c.5440G>T (p.Asp1814Tyr)
c.5410G>T (p.Asp1804Tyr)
c.5281G>T (p.Asp1761Tyr)
c.5260G>T (p.Asp1754Tyr)
n.5555G>T
dbSNP gnomAD v4
6g.157206381A>CCA366246148ARID1Bc.5450A>C (p.Asp1817Ala)
c.5519A>C (p.Asp1840Ala)
c.5738A>C (p.Asp1913Ala)
c.5489A>C (p.Asp1830Ala)
c.5201A>C (p.Asp1734Ala)
c.3767A>C (p.Asp1256Ala)
c.2930A>C (p.Asp977Ala)
c.2561A>C (p.Asp854Ala)
n.4072A>C
n.1529A>C
c.5609A>C (p.Asp1870Ala)
n.3606A>C
c.2977A>C
c.2891A>C
n.2275A>C
c.2951A>C (p.Asp984Ala)
c.3110A>C (p.Asp1037Ala)
n.2724A>C
c.5240A>C (p.Asp1747Ala)
c.5360A>C (p.Asp1787Ala)
c.4439A>C (p.Asp1480Ala)
c.4259A>C (p.Asp1420Ala)
c.4019A>C (p.Asp1340Ala)
c.3638A>C (p.Asp1213Ala)
c.2501A>C (p.Asp834Ala)
c.5570A>C (p.Asp1857Ala)
c.5471A>C (p.Asp1824Ala)
c.5441A>C (p.Asp1814Ala)
c.5411A>C (p.Asp1804Ala)
c.5282A>C (p.Asp1761Ala)
c.5261A>C (p.Asp1754Ala)
n.5556A>C
6g.157206381A>GCA366246150ARID1Bc.5450A>G (p.Asp1817Gly)
c.5519A>G (p.Asp1840Gly)
c.5738A>G (p.Asp1913Gly)
c.5489A>G (p.Asp1830Gly)
c.5201A>G (p.Asp1734Gly)
c.3767A>G (p.Asp1256Gly)
c.2930A>G (p.Asp977Gly)
c.2561A>G (p.Asp854Gly)
n.4072A>G
n.1529A>G
c.5609A>G (p.Asp1870Gly)
n.3606A>G
c.2977A>G
c.2891A>G
n.2275A>G
c.2951A>G (p.Asp984Gly)
c.3110A>G (p.Asp1037Gly)
n.2724A>G
c.5240A>G (p.Asp1747Gly)
c.5360A>G (p.Asp1787Gly)
c.4439A>G (p.Asp1480Gly)
c.4259A>G (p.Asp1420Gly)
c.4019A>G (p.Asp1340Gly)
c.3638A>G (p.Asp1213Gly)
c.2501A>G (p.Asp834Gly)
c.5570A>G (p.Asp1857Gly)
c.5471A>G (p.Asp1824Gly)
c.5441A>G (p.Asp1814Gly)
c.5411A>G (p.Asp1804Gly)
c.5282A>G (p.Asp1761Gly)
c.5261A>G (p.Asp1754Gly)
n.5556A>G
6g.157206381A>TCA366246152ARID1Bc.5450A>T (p.Asp1817Val)
c.5519A>T (p.Asp1840Val)
c.5738A>T (p.Asp1913Val)
c.5489A>T (p.Asp1830Val)
c.5201A>T (p.Asp1734Val)
c.3767A>T (p.Asp1256Val)
c.2930A>T (p.Asp977Val)
c.2561A>T (p.Asp854Val)
n.4072A>T
n.1529A>T
c.5609A>T (p.Asp1870Val)
n.3606A>T
c.2977A>T
c.2891A>T
n.2275A>T
c.2951A>T (p.Asp984Val)
c.3110A>T (p.Asp1037Val)
n.2724A>T
c.5240A>T (p.Asp1747Val)
c.5360A>T (p.Asp1787Val)
c.4439A>T (p.Asp1480Val)
c.4259A>T (p.Asp1420Val)
c.4019A>T (p.Asp1340Val)
c.3638A>T (p.Asp1213Val)
c.2501A>T (p.Asp834Val)
c.5570A>T (p.Asp1857Val)
c.5471A>T (p.Asp1824Val)
c.5441A>T (p.Asp1814Val)
c.5411A>T (p.Asp1804Val)
c.5282A>T (p.Asp1761Val)
c.5261A>T (p.Asp1754Val)
n.5556A>T
6g.157206382T>ACA366246155ARID1Bc.5451T>A (p.Asp1817Glu)
c.5520T>A (p.Asp1840Glu)
c.5739T>A (p.Asp1913Glu)
c.5490T>A (p.Asp1830Glu)
c.5202T>A (p.Asp1734Glu)
c.3768T>A (p.Asp1256Glu)
c.2931T>A (p.Asp977Glu)
c.2562T>A (p.Asp854Glu)
n.4073T>A
n.1530T>A
c.5610T>A (p.Asp1870Glu)
n.3607T>A
c.2978T>A
c.2892T>A
n.2276T>A
c.2952T>A (p.Asp984Glu)
c.3111T>A (p.Asp1037Glu)
n.2725T>A
c.5241T>A (p.Asp1747Glu)
c.5361T>A (p.Asp1787Glu)
c.4440T>A (p.Asp1480Glu)
c.4260T>A (p.Asp1420Glu)
c.4020T>A (p.Asp1340Glu)
c.3639T>A (p.Asp1213Glu)
c.2502T>A (p.Asp834Glu)
c.5571T>A (p.Asp1857Glu)
c.5472T>A (p.Asp1824Glu)
c.5442T>A (p.Asp1814Glu)
c.5412T>A (p.Asp1804Glu)
c.5283T>A (p.Asp1761Glu)
c.5262T>A (p.Asp1754Glu)
n.5557T>A
6g.157206382T>CCA452978488ARID1Bc.5451T>C (p.Asp1817=)
c.5520T>C (p.Asp1840=)
c.5739T>C (p.Asp1913=)
c.5490T>C (p.Asp1830=)
c.5202T>C (p.Asp1734=)
c.3768T>C (p.Asp1256=)
c.2931T>C (p.Asp977=)
c.2562T>C (p.Asp854=)
n.4073T>C
n.1530T>C
c.5610T>C (p.Asp1870=)
n.3607T>C
c.2978T>C
c.2892T>C
n.2276T>C
c.2952T>C (p.Asp984=)
c.3111T>C (p.Asp1037=)
n.2725T>C
c.5241T>C (p.Asp1747=)
c.5361T>C (p.Asp1787=)
c.4440T>C (p.Asp1480=)
c.4260T>C (p.Asp1420=)
c.4020T>C (p.Asp1340=)
c.3639T>C (p.Asp1213=)
c.2502T>C (p.Asp834=)
c.5571T>C (p.Asp1857=)
c.5472T>C (p.Asp1824=)
c.5442T>C (p.Asp1814=)
c.5412T>C (p.Asp1804=)
c.5283T>C (p.Asp1761=)
c.5262T>C (p.Asp1754=)
n.5557T>C
gnomAD v4
6g.157206382T>GCA366246157ARID1Bc.5451T>G (p.Asp1817Glu)
c.5520T>G (p.Asp1840Glu)
c.5739T>G (p.Asp1913Glu)
c.5490T>G (p.Asp1830Glu)
c.5202T>G (p.Asp1734Glu)
c.3768T>G (p.Asp1256Glu)
c.2931T>G (p.Asp977Glu)
c.2562T>G (p.Asp854Glu)
n.4073T>G
n.1530T>G
c.5610T>G (p.Asp1870Glu)
n.3607T>G
c.2978T>G
c.2892T>G
n.2276T>G
c.2952T>G (p.Asp984Glu)
c.3111T>G (p.Asp1037Glu)
n.2725T>G
c.5241T>G (p.Asp1747Glu)
c.5361T>G (p.Asp1787Glu)
c.4440T>G (p.Asp1480Glu)
c.4260T>G (p.Asp1420Glu)
c.4020T>G (p.Asp1340Glu)
c.3639T>G (p.Asp1213Glu)
c.2502T>G (p.Asp834Glu)
c.5571T>G (p.Asp1857Glu)
c.5472T>G (p.Asp1824Glu)
c.5442T>G (p.Asp1814Glu)
c.5412T>G (p.Asp1804Glu)
c.5283T>G (p.Asp1761Glu)
c.5262T>G (p.Asp1754Glu)
n.5557T>G
dbSNP
6g.157206383G>ACA366246163ARID1Bc.5452G>A (p.Glu1818Lys)
c.5521G>A (p.Glu1841Lys)
c.5740G>A (p.Glu1914Lys)
c.5491G>A (p.Glu1831Lys)
c.5203G>A (p.Glu1735Lys)
c.3769G>A (p.Glu1257Lys)
c.2932G>A (p.Glu978Lys)
c.2563G>A (p.Glu855Lys)
n.4074G>A
n.1531G>A
c.5611G>A (p.Glu1871Lys)
n.3608G>A
c.2979G>A
c.2893G>A
n.2277G>A
c.2953G>A (p.Glu985Lys)
c.3112G>A (p.Glu1038Lys)
n.2726G>A
c.5242G>A (p.Glu1748Lys)
c.5362G>A (p.Glu1788Lys)
c.4441G>A (p.Glu1481Lys)
c.4261G>A (p.Glu1421Lys)
c.4021G>A (p.Glu1341Lys)
c.3640G>A (p.Glu1214Lys)
c.2503G>A (p.Glu835Lys)
c.5572G>A (p.Glu1858Lys)
c.5473G>A (p.Glu1825Lys)
c.5443G>A (p.Glu1815Lys)
c.5413G>A (p.Glu1805Lys)
c.5284G>A (p.Glu1762Lys)
c.5263G>A (p.Glu1755Lys)
n.5558G>A
dbSNP
6g.157206383G>CCA366246160ARID1Bc.5452G>C (p.Glu1818Gln)
c.5521G>C (p.Glu1841Gln)
c.5740G>C (p.Glu1914Gln)
c.5491G>C (p.Glu1831Gln)
c.5203G>C (p.Glu1735Gln)
c.3769G>C (p.Glu1257Gln)
c.2932G>C (p.Glu978Gln)
c.2563G>C (p.Glu855Gln)
n.4074G>C
n.1531G>C
c.5611G>C (p.Glu1871Gln)
n.3608G>C
c.2979G>C
c.2893G>C
n.2277G>C
c.2953G>C (p.Glu985Gln)
c.3112G>C (p.Glu1038Gln)
n.2726G>C
c.5242G>C (p.Glu1748Gln)
c.5362G>C (p.Glu1788Gln)
c.4441G>C (p.Glu1481Gln)
c.4261G>C (p.Glu1421Gln)
c.4021G>C (p.Glu1341Gln)
c.3640G>C (p.Glu1214Gln)
c.2503G>C (p.Glu835Gln)
c.5572G>C (p.Glu1858Gln)
c.5473G>C (p.Glu1825Gln)
c.5443G>C (p.Glu1815Gln)
c.5413G>C (p.Glu1805Gln)
c.5284G>C (p.Glu1762Gln)
c.5263G>C (p.Glu1755Gln)
n.5558G>C
6g.157206383G=CA1675530162ARID1Bc.5452G= (p.Glu1818=)
c.5521G= (p.Glu1841=)
c.5740G= (p.Glu1914=)
c.5491G= (p.Glu1831=)
c.5203G= (p.Glu1735=)
c.3769G= (p.Glu1257=)
c.2932G= (p.Glu978=)
c.2563G= (p.Glu855=)
n.4074G=
n.1531G=
c.5611G= (p.Glu1871=)
n.3608G=
c.2979G=
c.2893G=
n.2277G=
c.2953G= (p.Glu985=)
c.3112G= (p.Glu1038=)
n.2726G=
c.5242G= (p.Glu1748=)
c.5362G= (p.Glu1788=)
c.4441G= (p.Glu1481=)
c.4261G= (p.Glu1421=)
c.4021G= (p.Glu1341=)
c.3640G= (p.Glu1214=)
c.2503G= (p.Glu835=)
c.5572G= (p.Glu1858=)
c.5473G= (p.Glu1825=)
c.5443G= (p.Glu1815=)
c.5413G= (p.Glu1805=)
c.5284G= (p.Glu1762=)
c.5263G= (p.Glu1755=)
n.5558G=
6g.157206383G>TCA366246162ARID1Bc.5452G>T (p.Glu1818Ter)
c.5521G>T (p.Glu1841Ter)
c.5740G>T (p.Glu1914Ter)
c.5491G>T (p.Glu1831Ter)
c.5203G>T (p.Glu1735Ter)
c.3769G>T (p.Glu1257Ter)
c.2932G>T (p.Glu978Ter)
c.2563G>T (p.Glu855Ter)
n.4074G>T
n.1531G>T
c.5611G>T (p.Glu1871Ter)
n.3608G>T
c.2979G>T
c.2893G>T
n.2277G>T
c.2953G>T (p.Glu985Ter)
c.3112G>T (p.Glu1038Ter)
n.2726G>T
c.5242G>T (p.Glu1748Ter)
c.5362G>T (p.Glu1788Ter)
c.4441G>T (p.Glu1481Ter)
c.4261G>T (p.Glu1421Ter)
c.4021G>T (p.Glu1341Ter)
c.3640G>T (p.Glu1214Ter)
c.2503G>T (p.Glu835Ter)
c.5572G>T (p.Glu1858Ter)
c.5473G>T (p.Glu1825Ter)
c.5443G>T (p.Glu1815Ter)
c.5413G>T (p.Glu1805Ter)
c.5284G>T (p.Glu1762Ter)
c.5263G>T (p.Glu1755Ter)
n.5558G>T
dbSNP
6g.157206384A>CCA366246166ARID1Bc.5453A>C (p.Glu1818Ala)
c.5522A>C (p.Glu1841Ala)
c.5741A>C (p.Glu1914Ala)
c.5492A>C (p.Glu1831Ala)
c.5204A>C (p.Glu1735Ala)
c.3770A>C (p.Glu1257Ala)
c.2933A>C (p.Glu978Ala)
c.2564A>C (p.Glu855Ala)
n.4075A>C
n.1532A>C
c.5612A>C (p.Glu1871Ala)
n.3609A>C
c.2980A>C
c.2894A>C
n.2278A>C
c.2954A>C (p.Glu985Ala)
c.3113A>C (p.Glu1038Ala)
n.2727A>C
c.5243A>C (p.Glu1748Ala)
c.5363A>C (p.Glu1788Ala)
c.4442A>C (p.Glu1481Ala)
c.4262A>C (p.Glu1421Ala)
c.4022A>C (p.Glu1341Ala)
c.3641A>C (p.Glu1214Ala)
c.2504A>C (p.Glu835Ala)
c.5573A>C (p.Glu1858Ala)
c.5474A>C (p.Glu1825Ala)
c.5444A>C (p.Glu1815Ala)
c.5414A>C (p.Glu1805Ala)
c.5285A>C (p.Glu1762Ala)
c.5264A>C (p.Glu1755Ala)
n.5559A>C
6g.157206384A>GCA366246169ARID1Bc.5453A>G (p.Glu1818Gly)
c.5522A>G (p.Glu1841Gly)
c.5741A>G (p.Glu1914Gly)
c.5492A>G (p.Glu1831Gly)
c.5204A>G (p.Glu1735Gly)
c.3770A>G (p.Glu1257Gly)
c.2933A>G (p.Glu978Gly)
c.2564A>G (p.Glu855Gly)
n.4075A>G
n.1532A>G
c.5612A>G (p.Glu1871Gly)
n.3609A>G
c.2980A>G
c.2894A>G
n.2278A>G
c.2954A>G (p.Glu985Gly)
c.3113A>G (p.Glu1038Gly)
n.2727A>G
c.5243A>G (p.Glu1748Gly)
c.5363A>G (p.Glu1788Gly)
c.4442A>G (p.Glu1481Gly)
c.4262A>G (p.Glu1421Gly)
c.4022A>G (p.Glu1341Gly)
c.3641A>G (p.Glu1214Gly)
c.2504A>G (p.Glu835Gly)
c.5573A>G (p.Glu1858Gly)
c.5474A>G (p.Glu1825Gly)
c.5444A>G (p.Glu1815Gly)
c.5414A>G (p.Glu1805Gly)
c.5285A>G (p.Glu1762Gly)
c.5264A>G (p.Glu1755Gly)
n.5559A>G
6g.157206384A>TCA366246171ARID1Bc.5453A>T (p.Glu1818Val)
c.5522A>T (p.Glu1841Val)
c.5741A>T (p.Glu1914Val)
c.5492A>T (p.Glu1831Val)
c.5204A>T (p.Glu1735Val)
c.3770A>T (p.Glu1257Val)
c.2933A>T (p.Glu978Val)
c.2564A>T (p.Glu855Val)
n.4075A>T
n.1532A>T
c.5612A>T (p.Glu1871Val)
n.3609A>T
c.2980A>T
c.2894A>T
n.2278A>T
c.2954A>T (p.Glu985Val)
c.3113A>T (p.Glu1038Val)
n.2727A>T
c.5243A>T (p.Glu1748Val)
c.5363A>T (p.Glu1788Val)
c.4442A>T (p.Glu1481Val)
c.4262A>T (p.Glu1421Val)
c.4022A>T (p.Glu1341Val)
c.3641A>T (p.Glu1214Val)
c.2504A>T (p.Glu835Val)
c.5573A>T (p.Glu1858Val)
c.5474A>T (p.Glu1825Val)
c.5444A>T (p.Glu1815Val)
c.5414A>T (p.Glu1805Val)
c.5285A>T (p.Glu1762Val)
c.5264A>T (p.Glu1755Val)
n.5559A>T
6g.157206385G>ACA452978489ARID1Bc.5454G>A (p.Glu1818=)
c.5523G>A (p.Glu1841=)
c.5742G>A (p.Glu1914=)
c.5493G>A (p.Glu1831=)
c.5205G>A (p.Glu1735=)
c.3771G>A (p.Glu1257=)
c.2934G>A (p.Glu978=)
c.2565G>A (p.Glu855=)
n.4076G>A
n.1533G>A
c.5613G>A (p.Glu1871=)
n.3610G>A
c.2981G>A
c.2895G>A
n.2279G>A
c.2955G>A (p.Glu985=)
c.3114G>A (p.Glu1038=)
n.2728G>A
c.5244G>A (p.Glu1748=)
c.5364G>A (p.Glu1788=)
c.4443G>A (p.Glu1481=)
c.4263G>A (p.Glu1421=)
c.4023G>A (p.Glu1341=)
c.3642G>A (p.Glu1214=)
c.2505G>A (p.Glu835=)
c.5574G>A (p.Glu1858=)
c.5475G>A (p.Glu1825=)
c.5445G>A (p.Glu1815=)
c.5415G>A (p.Glu1805=)
c.5286G>A (p.Glu1762=)
c.5265G>A (p.Glu1755=)
n.5560G>A
dbSNP
6g.157206385G>CCA366246173ARID1Bc.5454G>C (p.Glu1818Asp)
c.5523G>C (p.Glu1841Asp)
c.5742G>C (p.Glu1914Asp)
c.5493G>C (p.Glu1831Asp)
c.5205G>C (p.Glu1735Asp)
c.3771G>C (p.Glu1257Asp)
c.2934G>C (p.Glu978Asp)
c.2565G>C (p.Glu855Asp)
n.4076G>C
n.1533G>C
c.5613G>C (p.Glu1871Asp)
n.3610G>C
c.2981G>C
c.2895G>C
n.2279G>C
c.2955G>C (p.Glu985Asp)
c.3114G>C (p.Glu1038Asp)
n.2728G>C
c.5244G>C (p.Glu1748Asp)
c.5364G>C (p.Glu1788Asp)
c.4443G>C (p.Glu1481Asp)
c.4263G>C (p.Glu1421Asp)
c.4023G>C (p.Glu1341Asp)
c.3642G>C (p.Glu1214Asp)
c.2505G>C (p.Glu835Asp)
c.5574G>C (p.Glu1858Asp)
c.5475G>C (p.Glu1825Asp)
c.5445G>C (p.Glu1815Asp)
c.5415G>C (p.Glu1805Asp)
c.5286G>C (p.Glu1762Asp)
c.5265G>C (p.Glu1755Asp)
n.5560G>C
6g.157206385G>TCA366246174ARID1Bc.5454G>T (p.Glu1818Asp)
c.5523G>T (p.Glu1841Asp)
c.5742G>T (p.Glu1914Asp)
c.5493G>T (p.Glu1831Asp)
c.5205G>T (p.Glu1735Asp)
c.3771G>T (p.Glu1257Asp)
c.2934G>T (p.Glu978Asp)
c.2565G>T (p.Glu855Asp)
n.4076G>T
n.1533G>T
c.5613G>T (p.Glu1871Asp)
n.3610G>T
c.2981G>T
c.2895G>T
n.2279G>T
c.2955G>T (p.Glu985Asp)
c.3114G>T (p.Glu1038Asp)
n.2728G>T
c.5244G>T (p.Glu1748Asp)
c.5364G>T (p.Glu1788Asp)
c.4443G>T (p.Glu1481Asp)
c.4263G>T (p.Glu1421Asp)
c.4023G>T (p.Glu1341Asp)
c.3642G>T (p.Glu1214Asp)
c.2505G>T (p.Glu835Asp)
c.5574G>T (p.Glu1858Asp)
c.5475G>T (p.Glu1825Asp)
c.5445G>T (p.Glu1815Asp)
c.5415G>T (p.Glu1805Asp)
c.5286G>T (p.Glu1762Asp)
c.5265G>T (p.Glu1755Asp)
n.5560G>T
6g.157206386G>ACA4067870ARID1Bc.5455G>A (p.Glu1819Lys)
c.5524G>A (p.Glu1842Lys)
c.5743G>A (p.Glu1915Lys)
c.5494G>A (p.Glu1832Lys)
c.5206G>A (p.Glu1736Lys)
c.3772G>A (p.Glu1258Lys)
c.2935G>A (p.Glu979Lys)
c.2566G>A (p.Glu856Lys)
n.4077G>A
n.1534G>A
c.5614G>A (p.Glu1872Lys)
n.3611G>A
c.2982G>A
c.2896G>A
n.2280G>A
c.2956G>A (p.Glu986Lys)
c.3115G>A (p.Glu1039Lys)
n.2729G>A
c.5245G>A (p.Glu1749Lys)
c.5365G>A (p.Glu1789Lys)
c.4444G>A (p.Glu1482Lys)
c.4264G>A (p.Glu1422Lys)
c.4024G>A (p.Glu1342Lys)
c.3643G>A (p.Glu1215Lys)
c.2506G>A (p.Glu836Lys)
c.5575G>A (p.Glu1859Lys)
c.5476G>A (p.Glu1826Lys)
c.5446G>A (p.Glu1816Lys)
c.5416G>A (p.Glu1806Lys)
c.5287G>A (p.Glu1763Lys)
c.5266G>A (p.Glu1756Lys)
n.5561G>A
ClinVar dbSNP ExAC gnomAD v2
6g.157206386G>CCA366246178ARID1Bc.5455G>C (p.Glu1819Gln)
c.5524G>C (p.Glu1842Gln)
c.5743G>C (p.Glu1915Gln)
c.5494G>C (p.Glu1832Gln)
c.5206G>C (p.Glu1736Gln)
c.3772G>C (p.Glu1258Gln)
c.2935G>C (p.Glu979Gln)
c.2566G>C (p.Glu856Gln)
n.4077G>C
n.1534G>C
c.5614G>C (p.Glu1872Gln)
n.3611G>C
c.2982G>C
c.2896G>C
n.2280G>C
c.2956G>C (p.Glu986Gln)
c.3115G>C (p.Glu1039Gln)
n.2729G>C
c.5245G>C (p.Glu1749Gln)
c.5365G>C (p.Glu1789Gln)
c.4444G>C (p.Glu1482Gln)
c.4264G>C (p.Glu1422Gln)
c.4024G>C (p.Glu1342Gln)
c.3643G>C (p.Glu1215Gln)
c.2506G>C (p.Glu836Gln)
c.5575G>C (p.Glu1859Gln)
c.5476G>C (p.Glu1826Gln)
c.5446G>C (p.Glu1816Gln)
c.5416G>C (p.Glu1806Gln)
c.5287G>C (p.Glu1763Gln)
c.5266G>C (p.Glu1756Gln)
n.5561G>C
6g.157206386G=CA1675530165ARID1Bc.5455G= (p.Glu1819=)
c.5524G= (p.Glu1842=)
c.5743G= (p.Glu1915=)
c.5494G= (p.Glu1832=)
c.5206G= (p.Glu1736=)
c.3772G= (p.Glu1258=)
c.2935G= (p.Glu979=)
c.2566G= (p.Glu856=)
n.4077G=
n.1534G=
c.5614G= (p.Glu1872=)
n.3611G=
c.2982G=
c.2896G=
n.2280G=
c.2956G= (p.Glu986=)
c.3115G= (p.Glu1039=)
n.2729G=
c.5245G= (p.Glu1749=)
c.5365G= (p.Glu1789=)
c.4444G= (p.Glu1482=)
c.4264G= (p.Glu1422=)
c.4024G= (p.Glu1342=)
c.3643G= (p.Glu1215=)
c.2506G= (p.Glu836=)
c.5575G= (p.Glu1859=)
c.5476G= (p.Glu1826=)
c.5446G= (p.Glu1816=)
c.5416G= (p.Glu1806=)
c.5287G= (p.Glu1763=)
c.5266G= (p.Glu1756=)
n.5561G=
6g.157206386G>TCA366246180ARID1Bc.5455G>T (p.Glu1819Ter)
c.5524G>T (p.Glu1842Ter)
c.5743G>T (p.Glu1915Ter)
c.5494G>T (p.Glu1832Ter)
c.5206G>T (p.Glu1736Ter)
c.3772G>T (p.Glu1258Ter)
c.2935G>T (p.Glu979Ter)
c.2566G>T (p.Glu856Ter)
n.4077G>T
n.1534G>T
c.5614G>T (p.Glu1872Ter)
n.3611G>T
c.2982G>T
c.2896G>T
n.2280G>T
c.2956G>T (p.Glu986Ter)
c.3115G>T (p.Glu1039Ter)
n.2729G>T
c.5245G>T (p.Glu1749Ter)
c.5365G>T (p.Glu1789Ter)
c.4444G>T (p.Glu1482Ter)
c.4264G>T (p.Glu1422Ter)
c.4024G>T (p.Glu1342Ter)
c.3643G>T (p.Glu1215Ter)
c.2506G>T (p.Glu836Ter)
c.5575G>T (p.Glu1859Ter)
c.5476G>T (p.Glu1826Ter)
c.5446G>T (p.Glu1816Ter)
c.5416G>T (p.Glu1806Ter)
c.5287G>T (p.Glu1763Ter)
c.5266G>T (p.Glu1756Ter)
n.5561G>T
dbSNP
6g.157206387_157206388dupCA2573140708ARID1Bc.5456_5457dup (p.Glu1820ArgfsTer17)
c.5525_5526dup (p.Glu1843ArgfsTer17)
c.5744_5745dup (p.Glu1916ArgfsTer17)
c.5495_5496dup (p.Glu1833ArgfsTer17)
c.5207_5208dup (p.Glu1737ArgfsTer17)
c.3773_3774dup (p.Glu1259ArgfsTer17)
c.2936_2937dup (p.Glu980ArgfsTer17)
c.2567_2568dup (p.Glu857ArgfsTer17)
n.4078_4079dup
n.1535_1536dup
c.5615_5616dup (p.Glu1873ArgfsTer17)
n.3612_3613dup
c.2983_2984dup
c.2897_2898dup
n.2281_2282dup
c.2957_2958dup (p.Glu987ArgfsTer17)
c.3116_3117dup (p.Glu1040ArgfsTer17)
n.2730_2731dup
c.5246_5247dup (p.Glu1750ArgfsTer17)
c.5366_5367dup (p.Glu1790ArgfsTer17)
c.4445_4446dup (p.Glu1483ArgfsTer17)
c.4265_4266dup (p.Glu1423ArgfsTer17)
c.4025_4026dup (p.Glu1343ArgfsTer17)
c.3644_3645dup (p.Glu1216ArgfsTer17)
c.2507_2508dup (p.Glu837ArgfsTer17)
c.5576_5577dup (p.Glu1860ArgfsTer17)
c.5477_5478dup (p.Glu1827ArgfsTer17)
c.5447_5448dup (p.Glu1817ArgfsTer17)
c.5417_5418dup (p.Glu1807ArgfsTer17)
c.5288_5289dup (p.Glu1764ArgfsTer17)
c.5267_5268dup (p.Glu1757ArgfsTer17)
n.5562_5563dup
ClinVar dbSNP
6g.157206387A>CCA366246185ARID1Bc.5456A>C (p.Glu1819Ala)
c.5525A>C (p.Glu1842Ala)
c.5744A>C (p.Glu1915Ala)
c.5495A>C (p.Glu1832Ala)
c.5207A>C (p.Glu1736Ala)
c.3773A>C (p.Glu1258Ala)
c.2936A>C (p.Glu979Ala)
c.2567A>C (p.Glu856Ala)
n.4078A>C
n.1535A>C
c.5615A>C (p.Glu1872Ala)
n.3612A>C
c.2983A>C
c.2897A>C
n.2281A>C
c.2957A>C (p.Glu986Ala)
c.3116A>C (p.Glu1039Ala)
n.2730A>C
c.5246A>C (p.Glu1749Ala)
c.5366A>C (p.Glu1789Ala)
c.4445A>C (p.Glu1482Ala)
c.4265A>C (p.Glu1422Ala)
c.4025A>C (p.Glu1342Ala)
c.3644A>C (p.Glu1215Ala)
c.2507A>C (p.Glu836Ala)
c.5576A>C (p.Glu1859Ala)
c.5477A>C (p.Glu1826Ala)
c.5447A>C (p.Glu1816Ala)
c.5417A>C (p.Glu1806Ala)
c.5288A>C (p.Glu1763Ala)
c.5267A>C (p.Glu1756Ala)
n.5562A>C
6g.157206387A>GCA366246188ARID1Bc.5456A>G (p.Glu1819Gly)
c.5525A>G (p.Glu1842Gly)
c.5744A>G (p.Glu1915Gly)
c.5495A>G (p.Glu1832Gly)
c.5207A>G (p.Glu1736Gly)
c.3773A>G (p.Glu1258Gly)
c.2936A>G (p.Glu979Gly)
c.2567A>G (p.Glu856Gly)
n.4078A>G
n.1535A>G
c.5615A>G (p.Glu1872Gly)
n.3612A>G
c.2983A>G
c.2897A>G
n.2281A>G
c.2957A>G (p.Glu986Gly)
c.3116A>G (p.Glu1039Gly)
n.2730A>G
c.5246A>G (p.Glu1749Gly)
c.5366A>G (p.Glu1789Gly)
c.4445A>G (p.Glu1482Gly)
c.4265A>G (p.Glu1422Gly)
c.4025A>G (p.Glu1342Gly)
c.3644A>G (p.Glu1215Gly)
c.2507A>G (p.Glu836Gly)
c.5576A>G (p.Glu1859Gly)
c.5477A>G (p.Glu1826Gly)
c.5447A>G (p.Glu1816Gly)
c.5417A>G (p.Glu1806Gly)
c.5288A>G (p.Glu1763Gly)
c.5267A>G (p.Glu1756Gly)
n.5562A>G
6g.157206387A>TCA366246190ARID1Bc.5456A>T (p.Glu1819Val)
c.5525A>T (p.Glu1842Val)
c.5744A>T (p.Glu1915Val)
c.5495A>T (p.Glu1832Val)
c.5207A>T (p.Glu1736Val)
c.3773A>T (p.Glu1258Val)
c.2936A>T (p.Glu979Val)
c.2567A>T (p.Glu856Val)
n.4078A>T
n.1535A>T
c.5615A>T (p.Glu1872Val)
n.3612A>T
c.2983A>T
c.2897A>T
n.2281A>T
c.2957A>T (p.Glu986Val)
c.3116A>T (p.Glu1039Val)
n.2730A>T
c.5246A>T (p.Glu1749Val)
c.5366A>T (p.Glu1789Val)
c.4445A>T (p.Glu1482Val)
c.4265A>T (p.Glu1422Val)
c.4025A>T (p.Glu1342Val)
c.3644A>T (p.Glu1215Val)
c.2507A>T (p.Glu836Val)
c.5576A>T (p.Glu1859Val)
c.5477A>T (p.Glu1826Val)
c.5447A>T (p.Glu1816Val)
c.5417A>T (p.Glu1806Val)
c.5288A>T (p.Glu1763Val)
c.5267A>T (p.Glu1756Val)
n.5562A>T
6g.157206388G>ACA452978492ARID1Bc.5457G>A (p.Glu1819=)
c.5526G>A (p.Glu1842=)
c.5745G>A (p.Glu1915=)
c.5496G>A (p.Glu1832=)
c.5208G>A (p.Glu1736=)
c.3774G>A (p.Glu1258=)
c.2937G>A (p.Glu979=)
c.2568G>A (p.Glu856=)
n.4079G>A
n.1536G>A
c.5616G>A (p.Glu1872=)
n.3613G>A
c.2984G>A
c.2898G>A
n.2282G>A
c.2958G>A (p.Glu986=)
c.3117G>A (p.Glu1039=)
n.2731G>A
c.5247G>A (p.Glu1749=)
c.5367G>A (p.Glu1789=)
c.4446G>A (p.Glu1482=)
c.4266G>A (p.Glu1422=)
c.4026G>A (p.Glu1342=)
c.3645G>A (p.Glu1215=)
c.2508G>A (p.Glu836=)
c.5577G>A (p.Glu1859=)
c.5478G>A (p.Glu1826=)
c.5448G>A (p.Glu1816=)
c.5418G>A (p.Glu1806=)
c.5289G>A (p.Glu1763=)
c.5268G>A (p.Glu1756=)
n.5563G>A
dbSNP
6g.157206388G>CCA366246193ARID1Bc.5457G>C (p.Glu1819Asp)
c.5526G>C (p.Glu1842Asp)
c.5745G>C (p.Glu1915Asp)
c.5496G>C (p.Glu1832Asp)
c.5208G>C (p.Glu1736Asp)
c.3774G>C (p.Glu1258Asp)
c.2937G>C (p.Glu979Asp)
c.2568G>C (p.Glu856Asp)
n.4079G>C
n.1536G>C
c.5616G>C (p.Glu1872Asp)
n.3613G>C
c.2984G>C
c.2898G>C
n.2282G>C
c.2958G>C (p.Glu986Asp)
c.3117G>C (p.Glu1039Asp)
n.2731G>C
c.5247G>C (p.Glu1749Asp)
c.5367G>C (p.Glu1789Asp)
c.4446G>C (p.Glu1482Asp)
c.4266G>C (p.Glu1422Asp)
c.4026G>C (p.Glu1342Asp)
c.3645G>C (p.Glu1215Asp)
c.2508G>C (p.Glu836Asp)
c.5577G>C (p.Glu1859Asp)
c.5478G>C (p.Glu1826Asp)
c.5448G>C (p.Glu1816Asp)
c.5418G>C (p.Glu1806Asp)
c.5289G>C (p.Glu1763Asp)
c.5268G>C (p.Glu1756Asp)
n.5563G>C
6g.157206388G>TCA366246195ARID1Bc.5457G>T (p.Glu1819Asp)
c.5526G>T (p.Glu1842Asp)
c.5745G>T (p.Glu1915Asp)
c.5496G>T (p.Glu1832Asp)
c.5208G>T (p.Glu1736Asp)
c.3774G>T (p.Glu1258Asp)
c.2937G>T (p.Glu979Asp)
c.2568G>T (p.Glu856Asp)
n.4079G>T
n.1536G>T
c.5616G>T (p.Glu1872Asp)
n.3613G>T
c.2984G>T
c.2898G>T
n.2282G>T
c.2958G>T (p.Glu986Asp)
c.3117G>T (p.Glu1039Asp)
n.2731G>T
c.5247G>T (p.Glu1749Asp)
c.5367G>T (p.Glu1789Asp)
c.4446G>T (p.Glu1482Asp)
c.4266G>T (p.Glu1422Asp)
c.4026G>T (p.Glu1342Asp)
c.3645G>T (p.Glu1215Asp)
c.2508G>T (p.Glu836Asp)
c.5577G>T (p.Glu1859Asp)
c.5478G>T (p.Glu1826Asp)
c.5448G>T (p.Glu1816Asp)
c.5418G>T (p.Glu1806Asp)
c.5289G>T (p.Glu1763Asp)
c.5268G>T (p.Glu1756Asp)
n.5563G>T
6g.157206389G>ACA366246198ARID1Bc.5458G>A (p.Glu1820Lys)
c.5527G>A (p.Glu1843Lys)
c.5746G>A (p.Glu1916Lys)
c.5497G>A (p.Glu1833Lys)
c.5209G>A (p.Glu1737Lys)
c.3775G>A (p.Glu1259Lys)
c.2938G>A (p.Glu980Lys)
c.2569G>A (p.Glu857Lys)
n.4080G>A
n.1537G>A
c.5617G>A (p.Glu1873Lys)
n.3614G>A
c.2985G>A
c.2899G>A
n.2283G>A
c.2959G>A (p.Glu987Lys)
c.3118G>A (p.Glu1040Lys)
n.2732G>A
c.5248G>A (p.Glu1750Lys)
c.5368G>A (p.Glu1790Lys)
c.4447G>A (p.Glu1483Lys)
c.4267G>A (p.Glu1423Lys)
c.4027G>A (p.Glu1343Lys)
c.3646G>A (p.Glu1216Lys)
c.2509G>A (p.Glu837Lys)
c.5578G>A (p.Glu1860Lys)
c.5479G>A (p.Glu1827Lys)
c.5449G>A (p.Glu1817Lys)
c.5419G>A (p.Glu1807Lys)
c.5290G>A (p.Glu1764Lys)
c.5269G>A (p.Glu1757Lys)
n.5564G>A
dbSNP
6g.157206389G>CCA366246200ARID1Bc.5458G>C (p.Glu1820Gln)
c.5527G>C (p.Glu1843Gln)
c.5746G>C (p.Glu1916Gln)
c.5497G>C (p.Glu1833Gln)
c.5209G>C (p.Glu1737Gln)
c.3775G>C (p.Glu1259Gln)
c.2938G>C (p.Glu980Gln)
c.2569G>C (p.Glu857Gln)
n.4080G>C
n.1537G>C
c.5617G>C (p.Glu1873Gln)
n.3614G>C
c.2985G>C
c.2899G>C
n.2283G>C
c.2959G>C (p.Glu987Gln)
c.3118G>C (p.Glu1040Gln)
n.2732G>C
c.5248G>C (p.Glu1750Gln)
c.5368G>C (p.Glu1790Gln)
c.4447G>C (p.Glu1483Gln)
c.4267G>C (p.Glu1423Gln)
c.4027G>C (p.Glu1343Gln)
c.3646G>C (p.Glu1216Gln)
c.2509G>C (p.Glu837Gln)
c.5578G>C (p.Glu1860Gln)
c.5479G>C (p.Glu1827Gln)
c.5449G>C (p.Glu1817Gln)
c.5419G>C (p.Glu1807Gln)
c.5290G>C (p.Glu1764Gln)
c.5269G>C (p.Glu1757Gln)
n.5564G>C
6g.157206389G=CA1675530169ARID1Bc.5458G= (p.Glu1820=)
c.5527G= (p.Glu1843=)
c.5746G= (p.Glu1916=)
c.5497G= (p.Glu1833=)
c.5209G= (p.Glu1737=)
c.3775G= (p.Glu1259=)
c.2938G= (p.Glu980=)
c.2569G= (p.Glu857=)
n.4080G=
n.1537G=
c.5617G= (p.Glu1873=)
n.3614G=
c.2985G=
c.2899G=
n.2283G=
c.2959G= (p.Glu987=)
c.3118G= (p.Glu1040=)
n.2732G=
c.5248G= (p.Glu1750=)
c.5368G= (p.Glu1790=)
c.4447G= (p.Glu1483=)
c.4267G= (p.Glu1423=)
c.4027G= (p.Glu1343=)
c.3646G= (p.Glu1216=)
c.2509G= (p.Glu837=)
c.5578G= (p.Glu1860=)
c.5479G= (p.Glu1827=)
c.5449G= (p.Glu1817=)
c.5419G= (p.Glu1807=)
c.5290G= (p.Glu1764=)
c.5269G= (p.Glu1757=)
n.5564G=
6g.157206389G>TCA366246201ARID1Bc.5458G>T (p.Glu1820Ter)
c.5527G>T (p.Glu1843Ter)
c.5746G>T (p.Glu1916Ter)
c.5497G>T (p.Glu1833Ter)
c.5209G>T (p.Glu1737Ter)
c.3775G>T (p.Glu1259Ter)
c.2938G>T (p.Glu980Ter)
c.2569G>T (p.Glu857Ter)
n.4080G>T
n.1537G>T
c.5617G>T (p.Glu1873Ter)
n.3614G>T
c.2985G>T
c.2899G>T
n.2283G>T
c.2959G>T (p.Glu987Ter)
c.3118G>T (p.Glu1040Ter)
n.2732G>T
c.5248G>T (p.Glu1750Ter)
c.5368G>T (p.Glu1790Ter)
c.4447G>T (p.Glu1483Ter)
c.4267G>T (p.Glu1423Ter)
c.4027G>T (p.Glu1343Ter)
c.3646G>T (p.Glu1216Ter)
c.2509G>T (p.Glu837Ter)
c.5578G>T (p.Glu1860Ter)
c.5479G>T (p.Glu1827Ter)
c.5449G>T (p.Glu1817Ter)
c.5419G>T (p.Glu1807Ter)
c.5290G>T (p.Glu1764Ter)
c.5269G>T (p.Glu1757Ter)
n.5564G>T
dbSNP
6g.157206390A>CCA366246204ARID1Bc.5459A>C (p.Glu1820Ala)
c.5528A>C (p.Glu1843Ala)
c.5747A>C (p.Glu1916Ala)
c.5498A>C (p.Glu1833Ala)
c.5210A>C (p.Glu1737Ala)
c.3776A>C (p.Glu1259Ala)
c.2939A>C (p.Glu980Ala)
c.2570A>C (p.Glu857Ala)
n.4081A>C
n.1538A>C
c.5618A>C (p.Glu1873Ala)
n.3615A>C
c.2986A>C
c.2900A>C
n.2284A>C
c.2960A>C (p.Glu987Ala)
c.3119A>C (p.Glu1040Ala)
n.2733A>C
c.5249A>C (p.Glu1750Ala)
c.5369A>C (p.Glu1790Ala)
c.4448A>C (p.Glu1483Ala)
c.4268A>C (p.Glu1423Ala)
c.4028A>C (p.Glu1343Ala)
c.3647A>C (p.Glu1216Ala)
c.2510A>C (p.Glu837Ala)
c.5579A>C (p.Glu1860Ala)
c.5480A>C (p.Glu1827Ala)
c.5450A>C (p.Glu1817Ala)
c.5420A>C (p.Glu1807Ala)
c.5291A>C (p.Glu1764Ala)
c.5270A>C (p.Glu1757Ala)
n.5565A>C
6g.157206390A>GCA366246206ARID1Bc.5459A>G (p.Glu1820Gly)
c.5528A>G (p.Glu1843Gly)
c.5747A>G (p.Glu1916Gly)
c.5498A>G (p.Glu1833Gly)
c.5210A>G (p.Glu1737Gly)
c.3776A>G (p.Glu1259Gly)
c.2939A>G (p.Glu980Gly)
c.2570A>G (p.Glu857Gly)
n.4081A>G
n.1538A>G
c.5618A>G (p.Glu1873Gly)
n.3615A>G
c.2986A>G
c.2900A>G
n.2284A>G
c.2960A>G (p.Glu987Gly)
c.3119A>G (p.Glu1040Gly)
n.2733A>G
c.5249A>G (p.Glu1750Gly)
c.5369A>G (p.Glu1790Gly)
c.4448A>G (p.Glu1483Gly)
c.4268A>G (p.Glu1423Gly)
c.4028A>G (p.Glu1343Gly)
c.3647A>G (p.Glu1216Gly)
c.2510A>G (p.Glu837Gly)
c.5579A>G (p.Glu1860Gly)
c.5480A>G (p.Glu1827Gly)
c.5450A>G (p.Glu1817Gly)
c.5420A>G (p.Glu1807Gly)
c.5291A>G (p.Glu1764Gly)
c.5270A>G (p.Glu1757Gly)
n.5565A>G
6g.157206390A>TCA366246208ARID1Bc.5459A>T (p.Glu1820Val)
c.5528A>T (p.Glu1843Val)
c.5747A>T (p.Glu1916Val)
c.5498A>T (p.Glu1833Val)
c.5210A>T (p.Glu1737Val)
c.3776A>T (p.Glu1259Val)
c.2939A>T (p.Glu980Val)
c.2570A>T (p.Glu857Val)
n.4081A>T
n.1538A>T
c.5618A>T (p.Glu1873Val)
n.3615A>T
c.2986A>T
c.2900A>T
n.2284A>T
c.2960A>T (p.Glu987Val)
c.3119A>T (p.Glu1040Val)
n.2733A>T
c.5249A>T (p.Glu1750Val)
c.5369A>T (p.Glu1790Val)
c.4448A>T (p.Glu1483Val)
c.4268A>T (p.Glu1423Val)
c.4028A>T (p.Glu1343Val)
c.3647A>T (p.Glu1216Val)
c.2510A>T (p.Glu837Val)
c.5579A>T (p.Glu1860Val)
c.5480A>T (p.Glu1827Val)
c.5450A>T (p.Glu1817Val)
c.5420A>T (p.Glu1807Val)
c.5291A>T (p.Glu1764Val)
c.5270A>T (p.Glu1757Val)
n.5565A>T
6g.157206391A>CCA366246211ARID1Bc.5460A>C (p.Glu1820Asp)
c.5529A>C (p.Glu1843Asp)
c.5748A>C (p.Glu1916Asp)
c.5499A>C (p.Glu1833Asp)
c.5211A>C (p.Glu1737Asp)
c.3777A>C (p.Glu1259Asp)
c.2940A>C (p.Glu980Asp)
c.2571A>C (p.Glu857Asp)
n.4082A>C
n.1539A>C
c.5619A>C (p.Glu1873Asp)
n.3616A>C
c.2987A>C
c.2901A>C
n.2285A>C
c.2961A>C (p.Glu987Asp)
c.3120A>C (p.Glu1040Asp)
n.2734A>C
c.5250A>C (p.Glu1750Asp)
c.5370A>C (p.Glu1790Asp)
c.4449A>C (p.Glu1483Asp)
c.4269A>C (p.Glu1423Asp)
c.4029A>C (p.Glu1343Asp)
c.3648A>C (p.Glu1216Asp)
c.2511A>C (p.Glu837Asp)
c.5580A>C (p.Glu1860Asp)
c.5481A>C (p.Glu1827Asp)
c.5451A>C (p.Glu1817Asp)
c.5421A>C (p.Glu1807Asp)
c.5292A>C (p.Glu1764Asp)
c.5271A>C (p.Glu1757Asp)
n.5566A>C
6g.157206391A>GCA452978494ARID1Bc.5460A>G (p.Glu1820=)
c.5529A>G (p.Glu1843=)
c.5748A>G (p.Glu1916=)
c.5499A>G (p.Glu1833=)
c.5211A>G (p.Glu1737=)
c.3777A>G (p.Glu1259=)
c.2940A>G (p.Glu980=)
c.2571A>G (p.Glu857=)
n.4082A>G
n.1539A>G
c.5619A>G (p.Glu1873=)
n.3616A>G
c.2987A>G
c.2901A>G
n.2285A>G
c.2961A>G (p.Glu987=)
c.3120A>G (p.Glu1040=)
n.2734A>G
c.5250A>G (p.Glu1750=)
c.5370A>G (p.Glu1790=)
c.4449A>G (p.Glu1483=)
c.4269A>G (p.Glu1423=)
c.4029A>G (p.Glu1343=)
c.3648A>G (p.Glu1216=)
c.2511A>G (p.Glu837=)
c.5580A>G (p.Glu1860=)
c.5481A>G (p.Glu1827=)
c.5451A>G (p.Glu1817=)
c.5421A>G (p.Glu1807=)
c.5292A>G (p.Glu1764=)
c.5271A>G (p.Glu1757=)
n.5566A>G
6g.157206391A>TCA366246213ARID1Bc.5460A>T (p.Glu1820Asp)
c.5529A>T (p.Glu1843Asp)
c.5748A>T (p.Glu1916Asp)
c.5499A>T (p.Glu1833Asp)
c.5211A>T (p.Glu1737Asp)
c.3777A>T (p.Glu1259Asp)
c.2940A>T (p.Glu980Asp)
c.2571A>T (p.Glu857Asp)
n.4082A>T
n.1539A>T
c.5619A>T (p.Glu1873Asp)
n.3616A>T
c.2987A>T
c.2901A>T
n.2285A>T
c.2961A>T (p.Glu987Asp)
c.3120A>T (p.Glu1040Asp)
n.2734A>T
c.5250A>T (p.Glu1750Asp)
c.5370A>T (p.Glu1790Asp)
c.4449A>T (p.Glu1483Asp)
c.4269A>T (p.Glu1423Asp)
c.4029A>T (p.Glu1343Asp)
c.3648A>T (p.Glu1216Asp)
c.2511A>T (p.Glu837Asp)
c.5580A>T (p.Glu1860Asp)
c.5481A>T (p.Glu1827Asp)
c.5451A>T (p.Glu1817Asp)
c.5421A>T (p.Glu1807Asp)
c.5292A>T (p.Glu1764Asp)
c.5271A>T (p.Glu1757Asp)
n.5566A>T
6g.157206392G>ACA366246215ARID1Bc.5461G>A (p.Asp1821Asn)
c.5530G>A (p.Asp1844Asn)
c.5749G>A (p.Asp1917Asn)
c.5500G>A (p.Asp1834Asn)
c.5212G>A (p.Asp1738Asn)
c.3778G>A (p.Asp1260Asn)
c.2941G>A (p.Asp981Asn)
c.2572G>A (p.Asp858Asn)
n.4083G>A
n.1540G>A
c.5620G>A (p.Asp1874Asn)
n.3617G>A
c.2988G>A
c.2902G>A
n.2286G>A
c.2962G>A (p.Asp988Asn)
c.3121G>A (p.Asp1041Asn)
n.2735G>A
c.5251G>A (p.Asp1751Asn)
c.5371G>A (p.Asp1791Asn)
c.4450G>A (p.Asp1484Asn)
c.4270G>A (p.Asp1424Asn)
c.4030G>A (p.Asp1344Asn)
c.3649G>A (p.Asp1217Asn)
c.2512G>A (p.Asp838Asn)
c.5581G>A (p.Asp1861Asn)
c.5482G>A (p.Asp1828Asn)
c.5452G>A (p.Asp1818Asn)
c.5422G>A (p.Asp1808Asn)
c.5293G>A (p.Asp1765Asn)
c.5272G>A (p.Asp1758Asn)
n.5567G>A
6g.157206392G>CCA366246219ARID1Bc.5461G>C (p.Asp1821His)
c.5530G>C (p.Asp1844His)
c.5749G>C (p.Asp1917His)
c.5500G>C (p.Asp1834His)
c.5212G>C (p.Asp1738His)
c.3778G>C (p.Asp1260His)
c.2941G>C (p.Asp981His)
c.2572G>C (p.Asp858His)
n.4083G>C
n.1540G>C
c.5620G>C (p.Asp1874His)
n.3617G>C
c.2988G>C
c.2902G>C
n.2286G>C
c.2962G>C (p.Asp988His)
c.3121G>C (p.Asp1041His)
n.2735G>C
c.5251G>C (p.Asp1751His)
c.5371G>C (p.Asp1791His)
c.4450G>C (p.Asp1484His)
c.4270G>C (p.Asp1424His)
c.4030G>C (p.Asp1344His)
c.3649G>C (p.Asp1217His)
c.2512G>C (p.Asp838His)
c.5581G>C (p.Asp1861His)
c.5482G>C (p.Asp1828His)
c.5452G>C (p.Asp1818His)
c.5422G>C (p.Asp1808His)
c.5293G>C (p.Asp1765His)
c.5272G>C (p.Asp1758His)
n.5567G>C
dbSNP
6g.157206392G>TCA366246217ARID1Bc.5461G>T (p.Asp1821Tyr)
c.5530G>T (p.Asp1844Tyr)
c.5749G>T (p.Asp1917Tyr)
c.5500G>T (p.Asp1834Tyr)
c.5212G>T (p.Asp1738Tyr)
c.3778G>T (p.Asp1260Tyr)
c.2941G>T (p.Asp981Tyr)
c.2572G>T (p.Asp858Tyr)
n.4083G>T
n.1540G>T
c.5620G>T (p.Asp1874Tyr)
n.3617G>T
c.2988G>T
c.2902G>T
n.2286G>T
c.2962G>T (p.Asp988Tyr)
c.3121G>T (p.Asp1041Tyr)
n.2735G>T
c.5251G>T (p.Asp1751Tyr)
c.5371G>T (p.Asp1791Tyr)
c.4450G>T (p.Asp1484Tyr)
c.4270G>T (p.Asp1424Tyr)
c.4030G>T (p.Asp1344Tyr)
c.3649G>T (p.Asp1217Tyr)
c.2512G>T (p.Asp838Tyr)
c.5581G>T (p.Asp1861Tyr)
c.5482G>T (p.Asp1828Tyr)
c.5452G>T (p.Asp1818Tyr)
c.5422G>T (p.Asp1808Tyr)
c.5293G>T (p.Asp1765Tyr)
c.5272G>T (p.Asp1758Tyr)
n.5567G>T
gnomAD v4
6g.157206393A>CCA366246222ARID1Bc.5462A>C (p.Asp1821Ala)
c.5531A>C (p.Asp1844Ala)
c.5750A>C (p.Asp1917Ala)
c.5501A>C (p.Asp1834Ala)
c.5213A>C (p.Asp1738Ala)
c.3779A>C (p.Asp1260Ala)
c.2942A>C (p.Asp981Ala)
c.2573A>C (p.Asp858Ala)
n.4084A>C
n.1541A>C
c.5621A>C (p.Asp1874Ala)
n.3618A>C
c.2989A>C
c.2903A>C
n.2287A>C
c.2963A>C (p.Asp988Ala)
c.3122A>C (p.Asp1041Ala)
n.2736A>C
c.5252A>C (p.Asp1751Ala)
c.5372A>C (p.Asp1791Ala)
c.4451A>C (p.Asp1484Ala)
c.4271A>C (p.Asp1424Ala)
c.4031A>C (p.Asp1344Ala)
c.3650A>C (p.Asp1217Ala)
c.2513A>C (p.Asp838Ala)
c.5582A>C (p.Asp1861Ala)
c.5483A>C (p.Asp1828Ala)
c.5453A>C (p.Asp1818Ala)
c.5423A>C (p.Asp1808Ala)
c.5294A>C (p.Asp1765Ala)
c.5273A>C (p.Asp1758Ala)
n.5568A>C

Number of alleles fetched