Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.157148868delCA658789860ARID1Bc.3006del (p.Pro1003ArgfsTer6)
c.2916del (p.Pro973ArgfsTer6)
c.1020del (p.Pro341ArgfsTer6)
c.3045del (p.Pro1016ArgfsTer6)
c.2757del (p.Pro920ArgfsTer6)
c.1164del (p.Pro389ArgfsTer6)
n.907del
c.327del (p.Pro110ArgfsTer6)
n.140del
c.245del
c.49del
c.507del (p.Pro170ArgfsTer6)
c.2796del (p.Pro933ArgfsTer6)
n.1755del
c.1023del (p.Pro342ArgfsTer6)
n.853del
c.79del
c.1707del (p.Pro570ArgfsTer6)
c.1527del (p.Pro510ArgfsTer6)
c.1287del (p.Pro430ArgfsTer6)
c.906del (p.Pro303ArgfsTer6)
c.-20+15661del (n.-20+15661del)
c.2838del (p.Pro947ArgfsTer6)
c.2658del (p.Pro887ArgfsTer6)
n.2921del
6g.157148866G>ACA366389128ARID1Bc.3004G>A (p.Gly1002Arg)
c.2914G>A (p.Gly972Arg)
c.1018G>A (p.Gly340Arg)
c.3043G>A (p.Gly1015Arg)
c.2755G>A (p.Gly919Arg)
c.1162G>A (p.Gly388Arg)
n.905G>A
c.325G>A (p.Gly109Arg)
n.138G>A
c.243G>A
c.47G>A
c.505G>A (p.Gly169Arg)
c.2794G>A (p.Gly932Arg)
n.1753G>A
c.1021G>A (p.Gly341Arg)
n.851G>A
c.77G>A
c.1705G>A (p.Gly569Arg)
c.1525G>A (p.Gly509Arg)
c.1285G>A (p.Gly429Arg)
c.904G>A (p.Gly302Arg)
c.-20+15659G>A (n.-20+15659G>A)
c.2836G>A (p.Gly946Arg)
c.2656G>A (p.Gly886Arg)
n.2919G>A
6g.157148866G>CCA366389129ARID1Bc.3004G>C (p.Gly1002Arg)
c.2914G>C (p.Gly972Arg)
c.1018G>C (p.Gly340Arg)
c.3043G>C (p.Gly1015Arg)
c.2755G>C (p.Gly919Arg)
c.1162G>C (p.Gly388Arg)
n.905G>C
c.325G>C (p.Gly109Arg)
n.138G>C
c.243G>C
c.47G>C
c.505G>C (p.Gly169Arg)
c.2794G>C (p.Gly932Arg)
n.1753G>C
c.1021G>C (p.Gly341Arg)
n.851G>C
c.77G>C
c.1705G>C (p.Gly569Arg)
c.1525G>C (p.Gly509Arg)
c.1285G>C (p.Gly429Arg)
c.904G>C (p.Gly302Arg)
c.-20+15659G>C (n.-20+15659G>C)
c.2836G>C (p.Gly946Arg)
c.2656G>C (p.Gly886Arg)
n.2919G>C
6g.157148866G=CA1675517049ARID1Bc.3004G= (p.Gly1002=)
c.2914G= (p.Gly972=)
c.1018G= (p.Gly340=)
c.3043G= (p.Gly1015=)
c.2755G= (p.Gly919=)
c.1162G= (p.Gly388=)
n.905G=
c.325G= (p.Gly109=)
n.138G=
c.243G=
c.47G=
c.505G= (p.Gly169=)
c.2794G= (p.Gly932=)
n.1753G=
c.1021G= (p.Gly341=)
n.851G=
c.77G=
c.1705G= (p.Gly569=)
c.1525G= (p.Gly509=)
c.1285G= (p.Gly429=)
c.904G= (p.Gly302=)
c.-20+15659G= (n.-20+15659G=)
c.2836G= (p.Gly946=)
c.2656G= (p.Gly886=)
n.2919G=
6g.157148866G>TCA366389130ARID1Bc.3004G>T (p.Gly1002Trp)
c.2914G>T (p.Gly972Trp)
c.1018G>T (p.Gly340Trp)
c.3043G>T (p.Gly1015Trp)
c.2755G>T (p.Gly919Trp)
c.1162G>T (p.Gly388Trp)
n.905G>T
c.325G>T (p.Gly109Trp)
n.138G>T
c.243G>T
c.47G>T
c.505G>T (p.Gly169Trp)
c.2794G>T (p.Gly932Trp)
n.1753G>T
c.1021G>T (p.Gly341Trp)
n.851G>T
c.77G>T
c.1705G>T (p.Gly569Trp)
c.1525G>T (p.Gly509Trp)
c.1285G>T (p.Gly429Trp)
c.904G>T (p.Gly302Trp)
c.-20+15659G>T (n.-20+15659G>T)
c.2836G>T (p.Gly946Trp)
c.2656G>T (p.Gly886Trp)
n.2919G>T
 dbSNP gnomAD v4
6g.157148867G>ACA366389131ARID1Bc.3005G>A (p.Gly1002Glu)
c.2915G>A (p.Gly972Glu)
c.1019G>A (p.Gly340Glu)
c.3044G>A (p.Gly1015Glu)
c.2756G>A (p.Gly919Glu)
c.1163G>A (p.Gly388Glu)
n.906G>A
c.326G>A (p.Gly109Glu)
n.139G>A
c.244G>A
c.48G>A
c.506G>A (p.Gly169Glu)
c.2795G>A (p.Gly932Glu)
n.1754G>A
c.1022G>A (p.Gly341Glu)
n.852G>A
c.78G>A
c.1706G>A (p.Gly569Glu)
c.1526G>A (p.Gly509Glu)
c.1286G>A (p.Gly429Glu)
c.905G>A (p.Gly302Glu)
c.-20+15660G>A (n.-20+15660G>A)
c.2837G>A (p.Gly946Glu)
c.2657G>A (p.Gly886Glu)
n.2920G>A
 dbSNP gnomAD v2
6g.157148867G>CCA366389132ARID1Bc.3005G>C (p.Gly1002Ala)
c.2915G>C (p.Gly972Ala)
c.1019G>C (p.Gly340Ala)
c.3044G>C (p.Gly1015Ala)
c.2756G>C (p.Gly919Ala)
c.1163G>C (p.Gly388Ala)
n.906G>C
c.326G>C (p.Gly109Ala)
n.139G>C
c.244G>C
c.48G>C
c.506G>C (p.Gly169Ala)
c.2795G>C (p.Gly932Ala)
n.1754G>C
c.1022G>C (p.Gly341Ala)
n.852G>C
c.78G>C
c.1706G>C (p.Gly569Ala)
c.1526G>C (p.Gly509Ala)
c.1286G>C (p.Gly429Ala)
c.905G>C (p.Gly302Ala)
c.-20+15660G>C (n.-20+15660G>C)
c.2837G>C (p.Gly946Ala)
c.2657G>C (p.Gly886Ala)
n.2920G>C
6g.157148867G=CA1675517050ARID1Bc.3005G= (p.Gly1002=)
c.2915G= (p.Gly972=)
c.1019G= (p.Gly340=)
c.3044G= (p.Gly1015=)
c.2756G= (p.Gly919=)
c.1163G= (p.Gly388=)
n.906G=
c.326G= (p.Gly109=)
n.139G=
c.244G=
c.48G=
c.506G= (p.Gly169=)
c.2795G= (p.Gly932=)
n.1754G=
c.1022G= (p.Gly341=)
n.852G=
c.78G=
c.1706G= (p.Gly569=)
c.1526G= (p.Gly509=)
c.1286G= (p.Gly429=)
c.905G= (p.Gly302=)
c.-20+15660G= (n.-20+15660G=)
c.2837G= (p.Gly946=)
c.2657G= (p.Gly886=)
n.2920G=
6g.157148867G>TCA366389133ARID1Bc.3005G>T (p.Gly1002Val)
c.2915G>T (p.Gly972Val)
c.1019G>T (p.Gly340Val)
c.3044G>T (p.Gly1015Val)
c.2756G>T (p.Gly919Val)
c.1163G>T (p.Gly388Val)
n.906G>T
c.326G>T (p.Gly109Val)
n.139G>T
c.244G>T
c.48G>T
c.506G>T (p.Gly169Val)
c.2795G>T (p.Gly932Val)
n.1754G>T
c.1022G>T (p.Gly341Val)
n.852G>T
c.78G>T
c.1706G>T (p.Gly569Val)
c.1526G>T (p.Gly509Val)
c.1286G>T (p.Gly429Val)
c.905G>T (p.Gly302Val)
c.-20+15660G>T (n.-20+15660G>T)
c.2837G>T (p.Gly946Val)
c.2657G>T (p.Gly886Val)
n.2920G>T
6g.157148868G>ACA4067173ARID1Bc.3006G>A (p.Gly1002=)
c.2916G>A (p.Gly972=)
c.1020G>A (p.Gly340=)
c.3045G>A (p.Gly1015=)
c.2757G>A (p.Gly919=)
c.1164G>A (p.Gly388=)
n.907G>A
c.327G>A (p.Gly109=)
n.140G>A
c.245G>A
c.49G>A
c.507G>A (p.Gly169=)
c.2796G>A (p.Gly932=)
n.1755G>A
c.1023G>A (p.Gly341=)
n.853G>A
c.79G>A
c.1707G>A (p.Gly569=)
c.1527G>A (p.Gly509=)
c.1287G>A (p.Gly429=)
c.906G>A (p.Gly302=)
c.-20+15661G>A (n.-20+15661G>A)
c.2838G>A (p.Gly946=)
c.2658G>A (p.Gly886=)
n.2921G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.157148868G>CCA452990365ARID1Bc.3006G>C (p.Gly1002=)
c.2916G>C (p.Gly972=)
c.1020G>C (p.Gly340=)
c.3045G>C (p.Gly1015=)
c.2757G>C (p.Gly919=)
c.1164G>C (p.Gly388=)
n.907G>C
c.327G>C (p.Gly109=)
n.140G>C
c.245G>C
c.49G>C
c.507G>C (p.Gly169=)
c.2796G>C (p.Gly932=)
n.1755G>C
c.1023G>C (p.Gly341=)
n.853G>C
c.79G>C
c.1707G>C (p.Gly569=)
c.1527G>C (p.Gly509=)
c.1287G>C (p.Gly429=)
c.906G>C (p.Gly302=)
c.-20+15661G>C (n.-20+15661G>C)
c.2838G>C (p.Gly946=)
c.2658G>C (p.Gly886=)
n.2921G>C
 dbSNP gnomAD v2 gnomAD v4
6g.157148868G=CA1675517051ARID1Bc.3006G= (p.Gly1002=)
c.2916G= (p.Gly972=)
c.1020G= (p.Gly340=)
c.3045G= (p.Gly1015=)
c.2757G= (p.Gly919=)
c.1164G= (p.Gly388=)
n.907G=
c.327G= (p.Gly109=)
n.140G=
c.245G=
c.49G=
c.507G= (p.Gly169=)
c.2796G= (p.Gly932=)
n.1755G=
c.1023G= (p.Gly341=)
n.853G=
c.79G=
c.1707G= (p.Gly569=)
c.1527G= (p.Gly509=)
c.1287G= (p.Gly429=)
c.906G= (p.Gly302=)
c.-20+15661G= (n.-20+15661G=)
c.2838G= (p.Gly946=)
c.2658G= (p.Gly886=)
n.2921G=
6g.157148868G>TCA452990367ARID1Bc.3006G>T (p.Gly1002=)
c.2916G>T (p.Gly972=)
c.1020G>T (p.Gly340=)
c.3045G>T (p.Gly1015=)
c.2757G>T (p.Gly919=)
c.1164G>T (p.Gly388=)
n.907G>T
c.327G>T (p.Gly109=)
n.140G>T
c.245G>T
c.49G>T
c.507G>T (p.Gly169=)
c.2796G>T (p.Gly932=)
n.1755G>T
c.1023G>T (p.Gly341=)
n.853G>T
c.79G>T
c.1707G>T (p.Gly569=)
c.1527G>T (p.Gly509=)
c.1287G>T (p.Gly429=)
c.906G>T (p.Gly302=)
c.-20+15661G>T (n.-20+15661G>T)
c.2838G>T (p.Gly946=)
c.2658G>T (p.Gly886=)
n.2921G>T
 dbSNP gnomAD v4
6g.157148869C>ACA366389134ARID1Bc.3007C>A (p.Pro1003Thr)
c.2917C>A (p.Pro973Thr)
c.1021C>A (p.Pro341Thr)
c.3046C>A (p.Pro1016Thr)
c.2758C>A (p.Pro920Thr)
c.1165C>A (p.Pro389Thr)
n.908C>A
c.328C>A (p.Pro110Thr)
n.141C>A
c.246C>A
c.50C>A
c.508C>A (p.Pro170Thr)
c.2797C>A (p.Pro933Thr)
n.1756C>A
c.1024C>A (p.Pro342Thr)
n.854C>A
c.80C>A
c.1708C>A (p.Pro570Thr)
c.1528C>A (p.Pro510Thr)
c.1288C>A (p.Pro430Thr)
c.907C>A (p.Pro303Thr)
c.-20+15662C>A (n.-20+15662C>A)
c.2839C>A (p.Pro947Thr)
c.2659C>A (p.Pro887Thr)
n.2922C>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.157148869C=CA1675517052ARID1Bc.3007C= (p.Pro1003=)
c.2917C= (p.Pro973=)
c.1021C= (p.Pro341=)
c.3046C= (p.Pro1016=)
c.2758C= (p.Pro920=)
c.1165C= (p.Pro389=)
n.908C=
c.328C= (p.Pro110=)
n.141C=
c.246C=
c.50C=
c.508C= (p.Pro170=)
c.2797C= (p.Pro933=)
n.1756C=
c.1024C= (p.Pro342=)
n.854C=
c.80C=
c.1708C= (p.Pro570=)
c.1528C= (p.Pro510=)
c.1288C= (p.Pro430=)
c.907C= (p.Pro303=)
c.-20+15662C= (n.-20+15662C=)
c.2839C= (p.Pro947=)
c.2659C= (p.Pro887=)
n.2922C=
6g.157148869C>GCA366389135ARID1Bc.3007C>G (p.Pro1003Ala)
c.2917C>G (p.Pro973Ala)
c.1021C>G (p.Pro341Ala)
c.3046C>G (p.Pro1016Ala)
c.2758C>G (p.Pro920Ala)
c.1165C>G (p.Pro389Ala)
n.908C>G
c.328C>G (p.Pro110Ala)
n.141C>G
c.246C>G
c.50C>G
c.508C>G (p.Pro170Ala)
c.2797C>G (p.Pro933Ala)
n.1756C>G
c.1024C>G (p.Pro342Ala)
n.854C>G
c.80C>G
c.1708C>G (p.Pro570Ala)
c.1528C>G (p.Pro510Ala)
c.1288C>G (p.Pro430Ala)
c.907C>G (p.Pro303Ala)
c.-20+15662C>G (n.-20+15662C>G)
c.2839C>G (p.Pro947Ala)
c.2659C>G (p.Pro887Ala)
n.2922C>G
6g.157148869C>TCA366389136ARID1Bc.3007C>T (p.Pro1003Ser)
c.2917C>T (p.Pro973Ser)
c.1021C>T (p.Pro341Ser)
c.3046C>T (p.Pro1016Ser)
c.2758C>T (p.Pro920Ser)
c.1165C>T (p.Pro389Ser)
n.908C>T
c.328C>T (p.Pro110Ser)
n.141C>T
c.246C>T
c.50C>T
c.508C>T (p.Pro170Ser)
c.2797C>T (p.Pro933Ser)
n.1756C>T
c.1024C>T (p.Pro342Ser)
n.854C>T
c.80C>T
c.1708C>T (p.Pro570Ser)
c.1528C>T (p.Pro510Ser)
c.1288C>T (p.Pro430Ser)
c.907C>T (p.Pro303Ser)
c.-20+15662C>T (n.-20+15662C>T)
c.2839C>T (p.Pro947Ser)
c.2659C>T (p.Pro887Ser)
n.2922C>T
 dbSNP
6g.157148870C>ACA366389139ARID1Bc.3008C>A (p.Pro1003Gln)
c.2918C>A (p.Pro973Gln)
c.1022C>A (p.Pro341Gln)
c.3047C>A (p.Pro1016Gln)
c.2759C>A (p.Pro920Gln)
c.1166C>A (p.Pro389Gln)
n.909C>A
c.329C>A (p.Pro110Gln)
n.142C>A
c.247C>A
c.51C>A
c.509C>A (p.Pro170Gln)
c.2798C>A (p.Pro933Gln)
n.1757C>A
c.1025C>A (p.Pro342Gln)
n.855C>A
c.81C>A
c.1709C>A (p.Pro570Gln)
c.1529C>A (p.Pro510Gln)
c.1289C>A (p.Pro430Gln)
c.908C>A (p.Pro303Gln)
c.-20+15663C>A (n.-20+15663C>A)
c.2840C>A (p.Pro947Gln)
c.2660C>A (p.Pro887Gln)
n.2923C>A
6g.157148870C>GCA366389138ARID1Bc.3008C>G (p.Pro1003Arg)
c.2918C>G (p.Pro973Arg)
c.1022C>G (p.Pro341Arg)
c.3047C>G (p.Pro1016Arg)
c.2759C>G (p.Pro920Arg)
c.1166C>G (p.Pro389Arg)
n.909C>G
c.329C>G (p.Pro110Arg)
n.142C>G
c.247C>G
c.51C>G
c.509C>G (p.Pro170Arg)
c.2798C>G (p.Pro933Arg)
n.1757C>G
c.1025C>G (p.Pro342Arg)
n.855C>G
c.81C>G
c.1709C>G (p.Pro570Arg)
c.1529C>G (p.Pro510Arg)
c.1289C>G (p.Pro430Arg)
c.908C>G (p.Pro303Arg)
c.-20+15663C>G (n.-20+15663C>G)
c.2840C>G (p.Pro947Arg)
c.2660C>G (p.Pro887Arg)
n.2923C>G
6g.157148870C>TCA366389137ARID1Bc.3008C>T (p.Pro1003Leu)
c.2918C>T (p.Pro973Leu)
c.1022C>T (p.Pro341Leu)
c.3047C>T (p.Pro1016Leu)
c.2759C>T (p.Pro920Leu)
c.1166C>T (p.Pro389Leu)
n.909C>T
c.329C>T (p.Pro110Leu)
n.142C>T
c.247C>T
c.51C>T
c.509C>T (p.Pro170Leu)
c.2798C>T (p.Pro933Leu)
n.1757C>T
c.1025C>T (p.Pro342Leu)
n.855C>T
c.81C>T
c.1709C>T (p.Pro570Leu)
c.1529C>T (p.Pro510Leu)
c.1289C>T (p.Pro430Leu)
c.908C>T (p.Pro303Leu)
c.-20+15663C>T (n.-20+15663C>T)
c.2840C>T (p.Pro947Leu)
c.2660C>T (p.Pro887Leu)
n.2923C>T
 gnomAD v4
6g.157148871G>ACA151044ARID1Bc.3009G>A (p.Pro1003=)
c.2919G>A (p.Pro973=)
c.1023G>A (p.Pro341=)
c.3048G>A (p.Pro1016=)
c.2760G>A (p.Pro920=)
c.1167G>A (p.Pro389=)
n.910G>A
c.330G>A (p.Pro110=)
n.143G>A
c.248G>A
c.52G>A
c.510G>A (p.Pro170=)
c.2799G>A (p.Pro933=)
n.1758G>A
c.1026G>A (p.Pro342=)
n.856G>A
c.82G>A
c.1710G>A (p.Pro570=)
c.1530G>A (p.Pro510=)
c.1290G>A (p.Pro430=)
c.909G>A (p.Pro303=)
c.-20+15664G>A (n.-20+15664G>A)
c.2841G>A (p.Pro947=)
c.2661G>A (p.Pro887=)
n.2924G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.157148871G>CCA452990372ARID1Bc.3009G>C (p.Pro1003=)
c.2919G>C (p.Pro973=)
c.1023G>C (p.Pro341=)
c.3048G>C (p.Pro1016=)
c.2760G>C (p.Pro920=)
c.1167G>C (p.Pro389=)
n.910G>C
c.330G>C (p.Pro110=)
n.143G>C
c.248G>C
c.52G>C
c.510G>C (p.Pro170=)
c.2799G>C (p.Pro933=)
n.1758G>C
c.1026G>C (p.Pro342=)
n.856G>C
c.82G>C
c.1710G>C (p.Pro570=)
c.1530G>C (p.Pro510=)
c.1290G>C (p.Pro430=)
c.909G>C (p.Pro303=)
c.-20+15664G>C (n.-20+15664G>C)
c.2841G>C (p.Pro947=)
c.2661G>C (p.Pro887=)
n.2924G>C
6g.157148871G=CA1675517053ARID1Bc.3009G= (p.Pro1003=)
c.2919G= (p.Pro973=)
c.1023G= (p.Pro341=)
c.3048G= (p.Pro1016=)
c.2760G= (p.Pro920=)
c.1167G= (p.Pro389=)
n.910G=
c.330G= (p.Pro110=)
n.143G=
c.248G=
c.52G=
c.510G= (p.Pro170=)
c.2799G= (p.Pro933=)
n.1758G=
c.1026G= (p.Pro342=)
n.856G=
c.82G=
c.1710G= (p.Pro570=)
c.1530G= (p.Pro510=)
c.1290G= (p.Pro430=)
c.909G= (p.Pro303=)
c.-20+15664G= (n.-20+15664G=)
c.2841G= (p.Pro947=)
c.2661G= (p.Pro887=)
n.2924G=
6g.157148871G>TCA452990373ARID1Bc.3009G>T (p.Pro1003=)
c.2919G>T (p.Pro973=)
c.1023G>T (p.Pro341=)
c.3048G>T (p.Pro1016=)
c.2760G>T (p.Pro920=)
c.1167G>T (p.Pro389=)
n.910G>T
c.330G>T (p.Pro110=)
n.143G>T
c.248G>T
c.52G>T
c.510G>T (p.Pro170=)
c.2799G>T (p.Pro933=)
n.1758G>T
c.1026G>T (p.Pro342=)
n.856G>T
c.82G>T
c.1710G>T (p.Pro570=)
c.1530G>T (p.Pro510=)
c.1290G>T (p.Pro430=)
c.909G>T (p.Pro303=)
c.-20+15664G>T (n.-20+15664G>T)
c.2841G>T (p.Pro947=)
c.2661G>T (p.Pro887=)
n.2924G>T
 gnomAD v4
6g.157148872C>ACA366389140ARID1Bc.3010C>A (p.Pro1004Thr)
c.2920C>A (p.Pro974Thr)
c.1024C>A (p.Pro342Thr)
c.3049C>A (p.Pro1017Thr)
c.2761C>A (p.Pro921Thr)
c.1168C>A (p.Pro390Thr)
n.911C>A
c.331C>A (p.Pro111Thr)
n.144C>A
c.249C>A
c.53C>A
c.511C>A (p.Pro171Thr)
c.2800C>A (p.Pro934Thr)
n.1759C>A
c.1027C>A (p.Pro343Thr)
n.857C>A
c.83C>A
c.1711C>A (p.Pro571Thr)
c.1531C>A (p.Pro511Thr)
c.1291C>A (p.Pro431Thr)
c.910C>A (p.Pro304Thr)
c.-20+15665C>A (n.-20+15665C>A)
c.2842C>A (p.Pro948Thr)
c.2662C>A (p.Pro888Thr)
n.2925C>A
6g.157148872C=CA1675517054ARID1Bc.3010C= (p.Pro1004=)
c.2920C= (p.Pro974=)
c.1024C= (p.Pro342=)
c.3049C= (p.Pro1017=)
c.2761C= (p.Pro921=)
c.1168C= (p.Pro390=)
n.911C=
c.331C= (p.Pro111=)
n.144C=
c.249C=
c.53C=
c.511C= (p.Pro171=)
c.2800C= (p.Pro934=)
n.1759C=
c.1027C= (p.Pro343=)
n.857C=
c.83C=
c.1711C= (p.Pro571=)
c.1531C= (p.Pro511=)
c.1291C= (p.Pro431=)
c.910C= (p.Pro304=)
c.-20+15665C= (n.-20+15665C=)
c.2842C= (p.Pro948=)
c.2662C= (p.Pro888=)
n.2925C=
6g.157148872C>GCA366389141ARID1Bc.3010C>G (p.Pro1004Ala)
c.2920C>G (p.Pro974Ala)
c.1024C>G (p.Pro342Ala)
c.3049C>G (p.Pro1017Ala)
c.2761C>G (p.Pro921Ala)
c.1168C>G (p.Pro390Ala)
n.911C>G
c.331C>G (p.Pro111Ala)
n.144C>G
c.249C>G
c.53C>G
c.511C>G (p.Pro171Ala)
c.2800C>G (p.Pro934Ala)
n.1759C>G
c.1027C>G (p.Pro343Ala)
n.857C>G
c.83C>G
c.1711C>G (p.Pro571Ala)
c.1531C>G (p.Pro511Ala)
c.1291C>G (p.Pro431Ala)
c.910C>G (p.Pro304Ala)
c.-20+15665C>G (n.-20+15665C>G)
c.2842C>G (p.Pro948Ala)
c.2662C>G (p.Pro888Ala)
n.2925C>G
 dbSNP gnomAD v3 gnomAD v4
6g.157148872C>TCA366389142ARID1Bc.3010C>T (p.Pro1004Ser)
c.2920C>T (p.Pro974Ser)
c.1024C>T (p.Pro342Ser)
c.3049C>T (p.Pro1017Ser)
c.2761C>T (p.Pro921Ser)
c.1168C>T (p.Pro390Ser)
n.911C>T
c.331C>T (p.Pro111Ser)
n.144C>T
c.249C>T
c.53C>T
c.511C>T (p.Pro171Ser)
c.2800C>T (p.Pro934Ser)
n.1759C>T
c.1027C>T (p.Pro343Ser)
n.857C>T
c.83C>T
c.1711C>T (p.Pro571Ser)
c.1531C>T (p.Pro511Ser)
c.1291C>T (p.Pro431Ser)
c.910C>T (p.Pro304Ser)
c.-20+15665C>T (n.-20+15665C>T)
c.2842C>T (p.Pro948Ser)
c.2662C>T (p.Pro888Ser)
n.2925C>T
 dbSNP gnomAD v4
6g.157148873C>ACA366389143ARID1Bc.3011C>A (p.Pro1004Gln)
c.2921C>A (p.Pro974Gln)
c.1025C>A (p.Pro342Gln)
c.3050C>A (p.Pro1017Gln)
c.2762C>A (p.Pro921Gln)
c.1169C>A (p.Pro390Gln)
n.912C>A
c.332C>A (p.Pro111Gln)
n.145C>A
c.250C>A
c.54C>A
c.512C>A (p.Pro171Gln)
c.2801C>A (p.Pro934Gln)
n.1760C>A
c.1028C>A (p.Pro343Gln)
n.858C>A
c.84C>A
c.1712C>A (p.Pro571Gln)
c.1532C>A (p.Pro511Gln)
c.1292C>A (p.Pro431Gln)
c.911C>A (p.Pro304Gln)
c.-20+15666C>A (n.-20+15666C>A)
c.2843C>A (p.Pro948Gln)
c.2663C>A (p.Pro888Gln)
n.2926C>A
6g.157148873C>GCA366389144ARID1Bc.3011C>G (p.Pro1004Arg)
c.2921C>G (p.Pro974Arg)
c.1025C>G (p.Pro342Arg)
c.3050C>G (p.Pro1017Arg)
c.2762C>G (p.Pro921Arg)
c.1169C>G (p.Pro390Arg)
n.912C>G
c.332C>G (p.Pro111Arg)
n.145C>G
c.250C>G
c.54C>G
c.512C>G (p.Pro171Arg)
c.2801C>G (p.Pro934Arg)
n.1760C>G
c.1028C>G (p.Pro343Arg)
n.858C>G
c.84C>G
c.1712C>G (p.Pro571Arg)
c.1532C>G (p.Pro511Arg)
c.1292C>G (p.Pro431Arg)
c.911C>G (p.Pro304Arg)
c.-20+15666C>G (n.-20+15666C>G)
c.2843C>G (p.Pro948Arg)
c.2663C>G (p.Pro888Arg)
n.2926C>G
6g.157148873C>TCA366389145ARID1Bc.3011C>T (p.Pro1004Leu)
c.2921C>T (p.Pro974Leu)
c.1025C>T (p.Pro342Leu)
c.3050C>T (p.Pro1017Leu)
c.2762C>T (p.Pro921Leu)
c.1169C>T (p.Pro390Leu)
n.912C>T
c.332C>T (p.Pro111Leu)
n.145C>T
c.250C>T
c.54C>T
c.512C>T (p.Pro171Leu)
c.2801C>T (p.Pro934Leu)
n.1760C>T
c.1028C>T (p.Pro343Leu)
n.858C>T
c.84C>T
c.1712C>T (p.Pro571Leu)
c.1532C>T (p.Pro511Leu)
c.1292C>T (p.Pro431Leu)
c.911C>T (p.Pro304Leu)
c.-20+15666C>T (n.-20+15666C>T)
c.2843C>T (p.Pro948Leu)
c.2663C>T (p.Pro888Leu)
n.2926C>T
6g.157148874A=CA1675517055ARID1Bc.3012A= (p.Pro1004=)
c.2922A= (p.Pro974=)
c.1026A= (p.Pro342=)
c.3051A= (p.Pro1017=)
c.2763A= (p.Pro921=)
c.1170A= (p.Pro390=)
n.913A=
c.333A= (p.Pro111=)
n.146A=
c.251A=
c.55A=
c.513A= (p.Pro171=)
c.2802A= (p.Pro934=)
n.1761A=
c.1029A= (p.Pro343=)
n.859A=
c.85A=
c.1713A= (p.Pro571=)
c.1533A= (p.Pro511=)
c.1293A= (p.Pro431=)
c.912A= (p.Pro304=)
c.-20+15667A= (n.-20+15667A=)
c.2844A= (p.Pro948=)
c.2664A= (p.Pro888=)
n.2927A=
6g.157148874A>CCA452990379ARID1Bc.3012A>C (p.Pro1004=)
c.2922A>C (p.Pro974=)
c.1026A>C (p.Pro342=)
c.3051A>C (p.Pro1017=)
c.2763A>C (p.Pro921=)
c.1170A>C (p.Pro390=)
n.913A>C
c.333A>C (p.Pro111=)
n.146A>C
c.251A>C
c.55A>C
c.513A>C (p.Pro171=)
c.2802A>C (p.Pro934=)
n.1761A>C
c.1029A>C (p.Pro343=)
n.859A>C
c.85A>C
c.1713A>C (p.Pro571=)
c.1533A>C (p.Pro511=)
c.1293A>C (p.Pro431=)
c.912A>C (p.Pro304=)
c.-20+15667A>C (n.-20+15667A>C)
c.2844A>C (p.Pro948=)
c.2664A>C (p.Pro888=)
n.2927A>C
6g.157148874A>GCA452990381ARID1Bc.3012A>G (p.Pro1004=)
c.2922A>G (p.Pro974=)
c.1026A>G (p.Pro342=)
c.3051A>G (p.Pro1017=)
c.2763A>G (p.Pro921=)
c.1170A>G (p.Pro390=)
n.913A>G
c.333A>G (p.Pro111=)
n.146A>G
c.251A>G
c.55A>G
c.513A>G (p.Pro171=)
c.2802A>G (p.Pro934=)
n.1761A>G
c.1029A>G (p.Pro343=)
n.859A>G
c.85A>G
c.1713A>G (p.Pro571=)
c.1533A>G (p.Pro511=)
c.1293A>G (p.Pro431=)
c.912A>G (p.Pro304=)
c.-20+15667A>G (n.-20+15667A>G)
c.2844A>G (p.Pro948=)
c.2664A>G (p.Pro888=)
n.2927A>G
 dbSNP gnomAD v3 gnomAD v4
6g.157148874A>TCA452990382ARID1Bc.3012A>T (p.Pro1004=)
c.2922A>T (p.Pro974=)
c.1026A>T (p.Pro342=)
c.3051A>T (p.Pro1017=)
c.2763A>T (p.Pro921=)
c.1170A>T (p.Pro390=)
n.913A>T
c.333A>T (p.Pro111=)
n.146A>T
c.251A>T
c.55A>T
c.513A>T (p.Pro171=)
c.2802A>T (p.Pro934=)
n.1761A>T
c.1029A>T (p.Pro343=)
n.859A>T
c.85A>T
c.1713A>T (p.Pro571=)
c.1533A>T (p.Pro511=)
c.1293A>T (p.Pro431=)
c.912A>T (p.Pro304=)
c.-20+15667A>T (n.-20+15667A>T)
c.2844A>T (p.Pro948=)
c.2664A>T (p.Pro888=)
n.2927A>T
6g.157148875dupCA2695207304ARID1Bc.3013dup (p.Met1005AsnfsTer7)
c.2923dup (p.Met975AsnfsTer7)
c.1027dup (p.Met343AsnfsTer7)
c.3052dup (p.Met1018AsnfsTer7)
c.2764dup (p.Met922AsnfsTer7)
c.1171dup (p.Met391AsnfsTer7)
n.914dup
c.334dup (p.Met112AsnfsTer7)
n.147dup
c.252dup
c.56dup
c.514dup (p.Met172AsnfsTer7)
c.2803dup (p.Met935AsnfsTer7)
n.1762dup
c.1030dup (p.Met344AsnfsTer7)
n.860dup
c.86dup
c.1714dup (p.Met572AsnfsTer7)
c.1534dup (p.Met512AsnfsTer7)
c.1294dup (p.Met432AsnfsTer7)
c.913dup (p.Met305AsnfsTer7)
c.-20+15668dup (n.-20+15668dup)
c.2845dup (p.Met949AsnfsTer7)
c.2665dup (p.Met889AsnfsTer7)
n.2928dup
6g.157148875A=CA1675517056ARID1Bc.3013A= (p.Met1005=)
c.2923A= (p.Met975=)
c.1027A= (p.Met343=)
c.3052A= (p.Met1018=)
c.2764A= (p.Met922=)
c.1171A= (p.Met391=)
n.914A=
c.334A= (p.Met112=)
n.147A=
c.252A=
c.56A=
c.514A= (p.Met172=)
c.2803A= (p.Met935=)
n.1762A=
c.1030A= (p.Met344=)
n.860A=
c.86A=
c.1714A= (p.Met572=)
c.1534A= (p.Met512=)
c.1294A= (p.Met432=)
c.913A= (p.Met305=)
c.-20+15668A= (n.-20+15668A=)
c.2845A= (p.Met949=)
c.2665A= (p.Met889=)
n.2928A=
6g.157148875A>CCA366389146ARID1Bc.3013A>C (p.Met1005Leu)
c.2923A>C (p.Met975Leu)
c.1027A>C (p.Met343Leu)
c.3052A>C (p.Met1018Leu)
c.2764A>C (p.Met922Leu)
c.1171A>C (p.Met391Leu)
n.914A>C
c.334A>C (p.Met112Leu)
n.147A>C
c.252A>C
c.56A>C
c.514A>C (p.Met172Leu)
c.2803A>C (p.Met935Leu)
n.1762A>C
c.1030A>C (p.Met344Leu)
n.860A>C
c.86A>C
c.1714A>C (p.Met572Leu)
c.1534A>C (p.Met512Leu)
c.1294A>C (p.Met432Leu)
c.913A>C (p.Met305Leu)
c.-20+15668A>C (n.-20+15668A>C)
c.2845A>C (p.Met949Leu)
c.2665A>C (p.Met889Leu)
n.2928A>C
6g.157148875A>GCA4067175ARID1Bc.3013A>G (p.Met1005Val)
c.2923A>G (p.Met975Val)
c.1027A>G (p.Met343Val)
c.3052A>G (p.Met1018Val)
c.2764A>G (p.Met922Val)
c.1171A>G (p.Met391Val)
n.914A>G
c.334A>G (p.Met112Val)
n.147A>G
c.252A>G
c.56A>G
c.514A>G (p.Met172Val)
c.2803A>G (p.Met935Val)
n.1762A>G
c.1030A>G (p.Met344Val)
n.860A>G
c.86A>G
c.1714A>G (p.Met572Val)
c.1534A>G (p.Met512Val)
c.1294A>G (p.Met432Val)
c.913A>G (p.Met305Val)
c.-20+15668A>G (n.-20+15668A>G)
c.2845A>G (p.Met949Val)
c.2665A>G (p.Met889Val)
n.2928A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.157148875A>TCA4067174ARID1Bc.3013A>T (p.Met1005Leu)
c.2923A>T (p.Met975Leu)
c.1027A>T (p.Met343Leu)
c.3052A>T (p.Met1018Leu)
c.2764A>T (p.Met922Leu)
c.1171A>T (p.Met391Leu)
n.914A>T
c.334A>T (p.Met112Leu)
n.147A>T
c.252A>T
c.56A>T
c.514A>T (p.Met172Leu)
c.2803A>T (p.Met935Leu)
n.1762A>T
c.1030A>T (p.Met344Leu)
n.860A>T
c.86A>T
c.1714A>T (p.Met572Leu)
c.1534A>T (p.Met512Leu)
c.1294A>T (p.Met432Leu)
c.913A>T (p.Met305Leu)
c.-20+15668A>T (n.-20+15668A>T)
c.2845A>T (p.Met949Leu)
c.2665A>T (p.Met889Leu)
n.2928A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.157148876T>ACA366389147ARID1Bc.3014T>A (p.Met1005Lys)
c.2924T>A (p.Met975Lys)
c.1028T>A (p.Met343Lys)
c.3053T>A (p.Met1018Lys)
c.2765T>A (p.Met922Lys)
c.1172T>A (p.Met391Lys)
n.915T>A
c.335T>A (p.Met112Lys)
n.148T>A
c.253T>A
c.57T>A
c.515T>A (p.Met172Lys)
c.2804T>A (p.Met935Lys)
n.1763T>A
c.1031T>A (p.Met344Lys)
n.861T>A
c.87T>A
c.1715T>A (p.Met572Lys)
c.1535T>A (p.Met512Lys)
c.1295T>A (p.Met432Lys)
c.914T>A (p.Met305Lys)
c.-20+15669T>A (n.-20+15669T>A)
c.2846T>A (p.Met949Lys)
c.2666T>A (p.Met889Lys)
n.2929T>A
6g.157148876T>CCA366389148ARID1Bc.3014T>C (p.Met1005Thr)
c.2924T>C (p.Met975Thr)
c.1028T>C (p.Met343Thr)
c.3053T>C (p.Met1018Thr)
c.2765T>C (p.Met922Thr)
c.1172T>C (p.Met391Thr)
n.915T>C
c.335T>C (p.Met112Thr)
n.148T>C
c.253T>C
c.57T>C
c.515T>C (p.Met172Thr)
c.2804T>C (p.Met935Thr)
n.1763T>C
c.1031T>C (p.Met344Thr)
n.861T>C
c.87T>C
c.1715T>C (p.Met572Thr)
c.1535T>C (p.Met512Thr)
c.1295T>C (p.Met432Thr)
c.914T>C (p.Met305Thr)
c.-20+15669T>C (n.-20+15669T>C)
c.2846T>C (p.Met949Thr)
c.2666T>C (p.Met889Thr)
n.2929T>C
 dbSNP gnomAD v2 gnomAD v4
6g.157148876T>GCA366389149ARID1Bc.3014T>G (p.Met1005Arg)
c.2924T>G (p.Met975Arg)
c.1028T>G (p.Met343Arg)
c.3053T>G (p.Met1018Arg)
c.2765T>G (p.Met922Arg)
c.1172T>G (p.Met391Arg)
n.915T>G
c.335T>G (p.Met112Arg)
n.148T>G
c.253T>G
c.57T>G
c.515T>G (p.Met172Arg)
c.2804T>G (p.Met935Arg)
n.1763T>G
c.1031T>G (p.Met344Arg)
n.861T>G
c.87T>G
c.1715T>G (p.Met572Arg)
c.1535T>G (p.Met512Arg)
c.1295T>G (p.Met432Arg)
c.914T>G (p.Met305Arg)
c.-20+15669T>G (n.-20+15669T>G)
c.2846T>G (p.Met949Arg)
c.2666T>G (p.Met889Arg)
n.2929T>G
6g.157148876T=CA1675517057ARID1Bc.3014T= (p.Met1005=)
c.2924T= (p.Met975=)
c.1028T= (p.Met343=)
c.3053T= (p.Met1018=)
c.2765T= (p.Met922=)
c.1172T= (p.Met391=)
n.915T=
c.335T= (p.Met112=)
n.148T=
c.253T=
c.57T=
c.515T= (p.Met172=)
c.2804T= (p.Met935=)
n.1763T=
c.1031T= (p.Met344=)
n.861T=
c.87T=
c.1715T= (p.Met572=)
c.1535T= (p.Met512=)
c.1295T= (p.Met432=)
c.914T= (p.Met305=)
c.-20+15669T= (n.-20+15669T=)
c.2846T= (p.Met949=)
c.2666T= (p.Met889=)
n.2929T=
6g.157148877G>ACA366389152ARID1Bc.3015G>A (p.Met1005Ile)
c.2925G>A (p.Met975Ile)
c.1029G>A (p.Met343Ile)
c.3054G>A (p.Met1018Ile)
c.2766G>A (p.Met922Ile)
c.1173G>A (p.Met391Ile)
n.916G>A
c.336G>A (p.Met112Ile)
n.149G>A
c.254G>A
c.58G>A
c.516G>A (p.Met172Ile)
c.2805G>A (p.Met935Ile)
n.1764G>A
c.1032G>A (p.Met344Ile)
n.862G>A
c.88G>A
c.1716G>A (p.Met572Ile)
c.1536G>A (p.Met512Ile)
c.1296G>A (p.Met432Ile)
c.915G>A (p.Met305Ile)
c.-20+15670G>A (n.-20+15670G>A)
c.2847G>A (p.Met949Ile)
c.2667G>A (p.Met889Ile)
n.2930G>A
 dbSNP
6g.157148877G>CCA366389150ARID1Bc.3015G>C (p.Met1005Ile)
c.2925G>C (p.Met975Ile)
c.1029G>C (p.Met343Ile)
c.3054G>C (p.Met1018Ile)
c.2766G>C (p.Met922Ile)
c.1173G>C (p.Met391Ile)
n.916G>C
c.336G>C (p.Met112Ile)
n.149G>C
c.254G>C
c.58G>C
c.516G>C (p.Met172Ile)
c.2805G>C (p.Met935Ile)
n.1764G>C
c.1032G>C (p.Met344Ile)
n.862G>C
c.88G>C
c.1716G>C (p.Met572Ile)
c.1536G>C (p.Met512Ile)
c.1296G>C (p.Met432Ile)
c.915G>C (p.Met305Ile)
c.-20+15670G>C (n.-20+15670G>C)
c.2847G>C (p.Met949Ile)
c.2667G>C (p.Met889Ile)
n.2930G>C
6g.157148877G>TCA366389151ARID1Bc.3015G>T (p.Met1005Ile)
c.2925G>T (p.Met975Ile)
c.1029G>T (p.Met343Ile)
c.3054G>T (p.Met1018Ile)
c.2766G>T (p.Met922Ile)
c.1173G>T (p.Met391Ile)
n.916G>T
c.336G>T (p.Met112Ile)
n.149G>T
c.254G>T
c.58G>T
c.516G>T (p.Met172Ile)
c.2805G>T (p.Met935Ile)
n.1764G>T
c.1032G>T (p.Met344Ile)
n.862G>T
c.88G>T
c.1716G>T (p.Met572Ile)
c.1536G>T (p.Met512Ile)
c.1296G>T (p.Met432Ile)
c.915G>T (p.Met305Ile)
c.-20+15670G>T (n.-20+15670G>T)
c.2847G>T (p.Met949Ile)
c.2667G>T (p.Met889Ile)
n.2930G>T
6g.157148878C>ACA366389153ARID1Bc.3016C>A (p.Pro1006Thr)
c.2926C>A (p.Pro976Thr)
c.1030C>A (p.Pro344Thr)
c.3055C>A (p.Pro1019Thr)
c.2767C>A (p.Pro923Thr)
c.1174C>A (p.Pro392Thr)
n.917C>A
c.337C>A (p.Pro113Thr)
n.150C>A
c.255C>A
c.59C>A
c.517C>A (p.Pro173Thr)
c.2806C>A (p.Pro936Thr)
n.1765C>A
c.1033C>A (p.Pro345Thr)
n.863C>A
c.89C>A
c.1717C>A (p.Pro573Thr)
c.1537C>A (p.Pro513Thr)
c.1297C>A (p.Pro433Thr)
c.916C>A (p.Pro306Thr)
c.-20+15671C>A (n.-20+15671C>A)
c.2848C>A (p.Pro950Thr)
c.2668C>A (p.Pro890Thr)
n.2931C>A
 dbSNP
6g.157148878C=CA1675517058ARID1Bc.3016C= (p.Pro1006=)
c.2926C= (p.Pro976=)
c.1030C= (p.Pro344=)
c.3055C= (p.Pro1019=)
c.2767C= (p.Pro923=)
c.1174C= (p.Pro392=)
n.917C=
c.337C= (p.Pro113=)
n.150C=
c.255C=
c.59C=
c.517C= (p.Pro173=)
c.2806C= (p.Pro936=)
n.1765C=
c.1033C= (p.Pro345=)
n.863C=
c.89C=
c.1717C= (p.Pro573=)
c.1537C= (p.Pro513=)
c.1297C= (p.Pro433=)
c.916C= (p.Pro306=)
c.-20+15671C= (n.-20+15671C=)
c.2848C= (p.Pro950=)
c.2668C= (p.Pro890=)
n.2931C=
6g.157148878C>GCA366389154ARID1Bc.3016C>G (p.Pro1006Ala)
c.2926C>G (p.Pro976Ala)
c.1030C>G (p.Pro344Ala)
c.3055C>G (p.Pro1019Ala)
c.2767C>G (p.Pro923Ala)
c.1174C>G (p.Pro392Ala)
n.917C>G
c.337C>G (p.Pro113Ala)
n.150C>G
c.255C>G
c.59C>G
c.517C>G (p.Pro173Ala)
c.2806C>G (p.Pro936Ala)
n.1765C>G
c.1033C>G (p.Pro345Ala)
n.863C>G
c.89C>G
c.1717C>G (p.Pro573Ala)
c.1537C>G (p.Pro513Ala)
c.1297C>G (p.Pro433Ala)
c.916C>G (p.Pro306Ala)
c.-20+15671C>G (n.-20+15671C>G)
c.2848C>G (p.Pro950Ala)
c.2668C>G (p.Pro890Ala)
n.2931C>G
 dbSNP

Number of alleles fetched