Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.27936667delCA918630008ODAD2c.2252+59del (n.2252+59del)
c.1328+59del (n.1328+59del)
c.827+59del (n.827+59del)
c.2042+59del (n.2042+59del)
c.1166+59del (n.1166+59del)
 dbSNP gnomAD v4
10g.27936669A>CCA2608645733ODAD2c.2252+57T>G (n.2252+57T>G)
c.1328+57T>G (n.1328+57T>G)
c.827+57T>G (n.827+57T>G)
c.2042+57T>G (n.2042+57T>G)
c.1166+57T>G (n.1166+57T>G)
 gnomAD v4
10g.27936672_27936674delCA2574589428ODAD2c.2252+55_2252+57del (n.2252+55_2252+57del)
c.1328+55_1328+57del (n.1328+55_1328+57del)
c.827+55_827+57del (n.827+55_827+57del)
c.2042+55_2042+57del (n.2042+55_2042+57del)
c.1166+55_1166+57del (n.1166+55_1166+57del)
10g.27936671G>ACA2608645734ODAD2c.2252+55C>T (n.2252+55C>T)
c.1328+55C>T (n.1328+55C>T)
c.827+55C>T (n.827+55C>T)
c.2042+55C>T (n.2042+55C>T)
c.1166+55C>T (n.1166+55C>T)
 gnomAD v4
10g.27936671G>TCA2608645735ODAD2c.2252+55C>A (n.2252+55C>A)
c.1328+55C>A (n.1328+55C>A)
c.827+55C>A (n.827+55C>A)
c.2042+55C>A (n.2042+55C>A)
c.1166+55C>A (n.1166+55C>A)
 gnomAD v4
10g.27936672A>GCA663432639ODAD2c.2252+54T>C (n.2252+54T>C)
c.1328+54T>C (n.1328+54T>C)
c.827+54T>C (n.827+54T>C)
c.2042+54T>C (n.2042+54T>C)
c.1166+54T>C (n.1166+54T>C)
 dbSNP
10g.27936673A>CCA663432640ODAD2c.2252+53T>G (n.2252+53T>G)
c.1328+53T>G (n.1328+53T>G)
c.827+53T>G (n.827+53T>G)
c.2042+53T>G (n.2042+53T>G)
c.1166+53T>G (n.1166+53T>G)
 dbSNP gnomAD v3 gnomAD v4
10g.27936674G>ACA2608645736ODAD2c.2252+52C>T (n.2252+52C>T)
c.1328+52C>T (n.1328+52C>T)
c.827+52C>T (n.827+52C>T)
c.2042+52C>T (n.2042+52C>T)
c.1166+52C>T (n.1166+52C>T)
 gnomAD v4
10g.27936675G>ACA2574589429ODAD2c.2252+51C>T (n.2252+51C>T)
c.1328+51C>T (n.1328+51C>T)
c.827+51C>T (n.827+51C>T)
c.2042+51C>T (n.2042+51C>T)
c.1166+51C>T (n.1166+51C>T)
10g.27936675G>TCA592408318ODAD2c.2252+51C>A (n.2252+51C>A)
c.1328+51C>A (n.1328+51C>A)
c.827+51C>A (n.827+51C>A)
c.2042+51C>A (n.2042+51C>A)
c.1166+51C>A (n.1166+51C>A)
 dbSNP gnomAD v2
10g.27936676_27936682delCA5453260ODAD2c.2252+44_2252+50del (n.2252+44_2252+50del)
c.1328+44_1328+50del (n.1328+44_1328+50del)
c.827+44_827+50del (n.827+44_827+50del)
c.2042+44_2042+50del (n.2042+44_2042+50del)
c.1166+44_1166+50del (n.1166+44_1166+50del)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.27936677G>ACA5453261ODAD2c.2252+49C>T (n.2252+49C>T)
c.1328+49C>T (n.1328+49C>T)
c.827+49C>T (n.827+49C>T)
c.2042+49C>T (n.2042+49C>T)
c.1166+49C>T (n.1166+49C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.27936677G>TCA2608645737ODAD2c.2252+49C>A (n.2252+49C>A)
c.1328+49C>A (n.1328+49C>A)
c.827+49C>A (n.827+49C>A)
c.2042+49C>A (n.2042+49C>A)
c.1166+49C>A (n.1166+49C>A)
 dbSNP gnomAD v4
10g.27936680T>CCA2574589430ODAD2c.2252+46A>G (n.2252+46A>G)
c.1328+46A>G (n.1328+46A>G)
c.827+46A>G (n.827+46A>G)
c.2042+46A>G (n.2042+46A>G)
c.1166+46A>G (n.1166+46A>G)
10g.27936681C>ACA2721181867ODAD2c.2252+45G>T (n.2252+45G>T)
c.1328+45G>T (n.1328+45G>T)
c.827+45G>T (n.827+45G>T)
c.2042+45G>T (n.2042+45G>T)
c.1166+45G>T (n.1166+45G>T)
 dbSNP
10g.27936681C>TCA2721181866ODAD2c.2252+45G>A (n.2252+45G>A)
c.1328+45G>A (n.1328+45G>A)
c.827+45G>A (n.827+45G>A)
c.2042+45G>A (n.2042+45G>A)
c.1166+45G>A (n.1166+45G>A)
 dbSNP
10g.27936682A>CCA592408322ODAD2c.2252+44T>G (n.2252+44T>G)
c.1328+44T>G (n.1328+44T>G)
c.827+44T>G (n.827+44T>G)
c.2042+44T>G (n.2042+44T>G)
c.1166+44T>G (n.1166+44T>G)
 dbSNP gnomAD v2 gnomAD v4
10g.27936683G>ACA663432642ODAD2c.2252+43C>T (n.2252+43C>T)
c.1328+43C>T (n.1328+43C>T)
c.827+43C>T (n.827+43C>T)
c.2042+43C>T (n.2042+43C>T)
c.1166+43C>T (n.1166+43C>T)
 dbSNP gnomAD v4
10g.27936686G>ACA653596703ODAD2c.2252+40C>T (n.2252+40C>T)
c.1328+40C>T (n.1328+40C>T)
c.827+40C>T (n.827+40C>T)
c.2042+40C>T (n.2042+40C>T)
c.1166+40C>T (n.1166+40C>T)
 COSMIC
10g.27936686G>TCA2608645738ODAD2c.2252+40C>A (n.2252+40C>A)
c.1328+40C>A (n.1328+40C>A)
c.827+40C>A (n.827+40C>A)
c.2042+40C>A (n.2042+40C>A)
c.1166+40C>A (n.1166+40C>A)
 gnomAD v4
10g.27936688C>TCA5453262ODAD2c.2252+38G>A (n.2252+38G>A)
c.1328+38G>A (n.1328+38G>A)
c.827+38G>A (n.827+38G>A)
c.2042+38G>A (n.2042+38G>A)
c.1166+38G>A (n.1166+38G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.27936689G>ACA5453263ODAD2c.2252+37C>T (n.2252+37C>T)
c.1328+37C>T (n.1328+37C>T)
c.827+37C>T (n.827+37C>T)
c.2042+37C>T (n.2042+37C>T)
c.1166+37C>T (n.1166+37C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.27936689G>TCA2556211187ODAD2c.2252+37C>A (n.2252+37C>A)
c.1328+37C>A (n.1328+37C>A)
c.827+37C>A (n.827+37C>A)
c.2042+37C>A (n.2042+37C>A)
c.1166+37C>A (n.1166+37C>A)
10g.27936690T>CCA5453264ODAD2c.2252+36A>G (n.2252+36A>G)
c.1328+36A>G (n.1328+36A>G)
c.827+36A>G (n.827+36A>G)
c.2042+36A>G (n.2042+36A>G)
c.1166+36A>G (n.1166+36A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.27936690_27936691insCTCA2608645739ODAD2c.2252+36_2252+37insGA (n.2252+36_2252+37insGA)
c.1328+36_1328+37insGA (n.1328+36_1328+37insGA)
c.827+36_827+37insGA (n.827+36_827+37insGA)
c.2042+36_2042+37insGA (n.2042+36_2042+37insGA)
c.1166+36_1166+37insGA (n.1166+36_1166+37insGA)
 gnomAD v4
10g.27936691A>CCA2608645740ODAD2c.2252+35T>G (n.2252+35T>G)
c.1328+35T>G (n.1328+35T>G)
c.827+35T>G (n.827+35T>G)
c.2042+35T>G (n.2042+35T>G)
c.1166+35T>G (n.1166+35T>G)
 gnomAD v4
10g.27936691A>GCA663432647ODAD2c.2252+35T>C (n.2252+35T>C)
c.1328+35T>C (n.1328+35T>C)
c.827+35T>C (n.827+35T>C)
c.2042+35T>C (n.2042+35T>C)
c.1166+35T>C (n.1166+35T>C)
 dbSNP gnomAD v3 gnomAD v4
10g.27936692T>ACA2574589431ODAD2c.2252+34A>T (n.2252+34A>T)
c.1328+34A>T (n.1328+34A>T)
c.827+34A>T (n.827+34A>T)
c.2042+34A>T (n.2042+34A>T)
c.1166+34A>T (n.1166+34A>T)
 gnomAD v4
10g.27936692T>CCA2608645741ODAD2c.2252+34A>G (n.2252+34A>G)
c.1328+34A>G (n.1328+34A>G)
c.827+34A>G (n.827+34A>G)
c.2042+34A>G (n.2042+34A>G)
c.1166+34A>G (n.1166+34A>G)
 gnomAD v4
10g.27936693C>GCA2787074094ODAD2c.2252+33G>C (n.2252+33G>C)
c.1328+33G>C (n.1328+33G>C)
c.827+33G>C (n.827+33G>C)
c.2042+33G>C (n.2042+33G>C)
c.1166+33G>C (n.1166+33G>C)
10g.27936693C>TCA2608645742ODAD2c.2252+33G>A (n.2252+33G>A)
c.1328+33G>A (n.1328+33G>A)
c.827+33G>A (n.827+33G>A)
c.2042+33G>A (n.2042+33G>A)
c.1166+33G>A (n.1166+33G>A)
 gnomAD v4
10g.27936694T>GCA2588536821ODAD2c.2252+32A>C (n.2252+32A>C)
c.1328+32A>C (n.1328+32A>C)
c.827+32A>C (n.827+32A>C)
c.2042+32A>C (n.2042+32A>C)
c.1166+32A>C (n.1166+32A>C)
 dbSNP gnomAD v3 gnomAD v4
10g.27936698T>CCA2608645743ODAD2c.2252+28A>G (n.2252+28A>G)
c.1328+28A>G (n.1328+28A>G)
c.827+28A>G (n.827+28A>G)
c.2042+28A>G (n.2042+28A>G)
c.1166+28A>G (n.1166+28A>G)
 gnomAD v4
10g.27936701C>ACA2787074095ODAD2c.2252+25G>T (n.2252+25G>T)
c.1328+25G>T (n.1328+25G>T)
c.827+25G>T (n.827+25G>T)
c.2042+25G>T (n.2042+25G>T)
c.1166+25G>T (n.1166+25G>T)
10g.27936705A>GCA592408335ODAD2c.2252+21T>C (n.2252+21T>C)
c.1328+21T>C (n.1328+21T>C)
c.827+21T>C (n.827+21T>C)
c.2042+21T>C (n.2042+21T>C)
c.1166+21T>C (n.1166+21T>C)
 dbSNP gnomAD v2 gnomAD v4
10g.27936706T>ACA2574589432ODAD2c.2252+20A>T (n.2252+20A>T)
c.1328+20A>T (n.1328+20A>T)
c.827+20A>T (n.827+20A>T)
c.2042+20A>T (n.2042+20A>T)
c.1166+20A>T (n.1166+20A>T)
 gnomAD v4
10g.27936707A>TCA2573145034ODAD2c.2252+19T>A (n.2252+19T>A)
c.1328+19T>A (n.1328+19T>A)
c.827+19T>A (n.827+19T>A)
c.2042+19T>A (n.2042+19T>A)
c.1166+19T>A (n.1166+19T>A)
 ClinVar dbSNP
10g.27936708T>CCA5453266ODAD2c.2252+18A>G (n.2252+18A>G)
c.1328+18A>G (n.1328+18A>G)
c.827+18A>G (n.827+18A>G)
c.2042+18A>G (n.2042+18A>G)
c.1166+18A>G (n.1166+18A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.27936709dupCA2497291525ODAD2c.2252+18dup (n.2252+18dup)
c.1328+18dup (n.1328+18dup)
c.827+18dup (n.827+18dup)
c.2042+18dup (n.2042+18dup)
c.1166+18dup (n.1166+18dup)
 dbSNP
10g.27936709delCA5453265ODAD2c.2252+18del (n.2252+18del)
c.1328+18del (n.1328+18del)
c.827+18del (n.827+18del)
c.2042+18del (n.2042+18del)
c.1166+18del (n.1166+18del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.27936709T>GCA2608645744ODAD2c.2252+17A>C (n.2252+17A>C)
c.1328+17A>C (n.1328+17A>C)
c.827+17A>C (n.827+17A>C)
c.2042+17A>C (n.2042+17A>C)
c.1166+17A>C (n.1166+17A>C)
 gnomAD v4
10g.27936710G>ACA592408339ODAD2c.2252+16C>T (n.2252+16C>T)
c.1328+16C>T (n.1328+16C>T)
c.827+16C>T (n.827+16C>T)
c.2042+16C>T (n.2042+16C>T)
c.1166+16C>T (n.1166+16C>T)
 dbSNP gnomAD v2 gnomAD v4
10g.27936711A>GCA2721247497ODAD2c.2252+15T>C (n.2252+15T>C)
c.1328+15T>C (n.1328+15T>C)
c.827+15T>C (n.827+15T>C)
c.2042+15T>C (n.2042+15T>C)
c.1166+15T>C (n.1166+15T>C)
 dbSNP
10g.27936712G>CCA2721168492ODAD2c.2252+14C>G (n.2252+14C>G)
c.1328+14C>G (n.1328+14C>G)
c.827+14C>G (n.827+14C>G)
c.2042+14C>G (n.2042+14C>G)
c.1166+14C>G (n.1166+14C>G)
 dbSNP
10g.27936713A>CCA2721459100ODAD2c.2252+13T>G (n.2252+13T>G)
c.1328+13T>G (n.1328+13T>G)
c.827+13T>G (n.827+13T>G)
c.2042+13T>G (n.2042+13T>G)
c.1166+13T>G (n.1166+13T>G)
 dbSNP
10g.27936713A>TCA2608645745ODAD2c.2252+13T>A (n.2252+13T>A)
c.1328+13T>A (n.1328+13T>A)
c.827+13T>A (n.827+13T>A)
c.2042+13T>A (n.2042+13T>A)
c.1166+13T>A (n.1166+13T>A)
 gnomAD v4
10g.27936715C>ACA663432651ODAD2c.2252+11G>T (n.2252+11G>T)
c.1328+11G>T (n.1328+11G>T)
c.827+11G>T (n.827+11G>T)
c.2042+11G>T (n.2042+11G>T)
c.1166+11G>T (n.1166+11G>T)
 ClinVar dbSNP gnomAD v4
10g.27936715C>GCA2608645746ODAD2c.2252+11G>C (n.2252+11G>C)
c.1328+11G>C (n.1328+11G>C)
c.827+11G>C (n.827+11G>C)
c.2042+11G>C (n.2042+11G>C)
c.1166+11G>C (n.1166+11G>C)
 gnomAD v4
10g.27936717T>CCA2608645747ODAD2c.2252+9A>G (n.2252+9A>G)
c.1328+9A>G (n.1328+9A>G)
c.827+9A>G (n.827+9A>G)
c.2042+9A>G (n.2042+9A>G)
c.1166+9A>G (n.1166+9A>G)
 gnomAD v4
10g.27936718dupCA204514376ODAD2c.2252+9dup (n.2252+9dup)
c.1328+9dup (n.1328+9dup)
c.827+9dup (n.827+9dup)
c.2042+9dup (n.2042+9dup)
c.1166+9dup (n.1166+9dup)
 dbSNP
10g.27936718T>CCA2608645748ODAD2c.2252+8A>G (n.2252+8A>G)
c.1328+8A>G (n.1328+8A>G)
c.827+8A>G (n.827+8A>G)
c.2042+8A>G (n.2042+8A>G)
c.1166+8A>G (n.1166+8A>G)
 gnomAD v4
10g.27936723T>ACA2574589433ODAD2c.2252+3A>T (n.2252+3A>T)
c.1328+3A>T (n.1328+3A>T)
c.827+3A>T (n.827+3A>T)
c.2042+3A>T (n.2042+3A>T)
c.1166+3A>T (n.1166+3A>T)
10g.27936723T>GCA2608645749ODAD2c.2252+3A>C (n.2252+3A>C)
c.1328+3A>C (n.1328+3A>C)
c.827+3A>C (n.827+3A>C)
c.2042+3A>C (n.2042+3A>C)
c.1166+3A>C (n.1166+3A>C)
 gnomAD v4
10g.27936724A>CCA376391714ODAD2c.2252+2T>G (n.2252+2T>G)
c.1328+2T>G (n.1328+2T>G)
c.827+2T>G (n.827+2T>G)
c.2042+2T>G (n.2042+2T>G)
c.1166+2T>G (n.1166+2T>G)
 gnomAD v4
10g.27936724A>GCA376391713ODAD2c.2252+2T>C (n.2252+2T>C)
c.1328+2T>C (n.1328+2T>C)
c.827+2T>C (n.827+2T>C)
c.2042+2T>C (n.2042+2T>C)
c.1166+2T>C (n.1166+2T>C)
 dbSNP
10g.27936724A>TCA376391715ODAD2c.2252+2T>A (n.2252+2T>A)
c.1328+2T>A (n.1328+2T>A)
c.827+2T>A (n.827+2T>A)
c.2042+2T>A (n.2042+2T>A)
c.1166+2T>A (n.1166+2T>A)
10g.27936725C>ACA376391716ODAD2c.2252+1G>T (n.2252+1G>T)
c.1328+1G>T (n.1328+1G>T)
c.827+1G>T (n.827+1G>T)
c.2042+1G>T (n.2042+1G>T)
c.1166+1G>T (n.1166+1G>T)
10g.27936725C>GCA204514377ODAD2c.2252+1G>C (n.2252+1G>C)
c.1328+1G>C (n.1328+1G>C)
c.827+1G>C (n.827+1G>C)
c.2042+1G>C (n.2042+1G>C)
c.1166+1G>C (n.1166+1G>C)
 dbSNP COSMIC COSMIC
10g.27936725C>TCA376391717ODAD2c.2252+1G>A (n.2252+1G>A)
c.1328+1G>A (n.1328+1G>A)
c.827+1G>A (n.827+1G>A)
c.2042+1G>A (n.2042+1G>A)
c.1166+1G>A (n.1166+1G>A)
 dbSNP gnomAD v3 gnomAD v4
10g.27936726T>ACA376391718ODAD2c.2252A>T (p.Lys751Met)
c.1328A>T (p.Lys443Met)
c.827A>T (p.Lys276Met)
c.2042A>T (p.Lys681Met)
c.1166A>T (p.Lys389Met)
10g.27936726T>CCA376391719ODAD2c.2252A>G (p.Lys751Arg)
c.1328A>G (p.Lys443Arg)
c.827A>G (p.Lys276Arg)
c.2042A>G (p.Lys681Arg)
c.1166A>G (p.Lys389Arg)
10g.27936726T>GCA376391720ODAD2c.2252A>C (p.Lys751Thr)
c.1328A>C (p.Lys443Thr)
c.827A>C (p.Lys276Thr)
c.2042A>C (p.Lys681Thr)
c.1166A>C (p.Lys389Thr)
10g.27936727dupCA2608645750ODAD2c.2252dup (p.Phe752ValfsTer8)
c.1328dup (p.Phe444ValfsTer8)
c.827dup (p.Phe277ValfsTer8)
c.2042dup (p.Phe682ValfsTer8)
c.1166dup (p.Phe390ValfsTer8)
 gnomAD v4
10g.27936727T>ACA376391721ODAD2c.2251A>T (p.Lys751Ter)
c.1327A>T (p.Lys443Ter)
c.826A>T (p.Lys276Ter)
c.2041A>T (p.Lys681Ter)
c.1165A>T (p.Lys389Ter)
10g.27936727T>CCA376391722ODAD2c.2251A>G (p.Lys751Glu)
c.1327A>G (p.Lys443Glu)
c.826A>G (p.Lys276Glu)
c.2041A>G (p.Lys681Glu)
c.1165A>G (p.Lys389Glu)
 dbSNP gnomAD v4
10g.27936727T>GCA376391723ODAD2c.2251A>C (p.Lys751Gln)
c.1327A>C (p.Lys443Gln)
c.826A>C (p.Lys276Gln)
c.2041A>C (p.Lys681Gln)
c.1165A>C (p.Lys389Gln)
10g.27936728G>ACA468753305ODAD2c.2250C>T (p.Thr750=)
c.1326C>T (p.Thr442=)
c.825C>T (p.Thr275=)
c.2040C>T (p.Thr680=)
c.1164C>T (p.Thr388=)
10g.27936728G>CCA468753304ODAD2c.2250C>G (p.Thr750=)
c.1326C>G (p.Thr442=)
c.825C>G (p.Thr275=)
c.2040C>G (p.Thr680=)
c.1164C>G (p.Thr388=)
10g.27936728G>TCA468753303ODAD2c.2250C>A (p.Thr750=)
c.1326C>A (p.Thr442=)
c.825C>A (p.Thr275=)
c.2040C>A (p.Thr680=)
c.1164C>A (p.Thr388=)
10g.27936729G>ACA5453267ODAD2c.2249C>T (p.Thr750Ile)
c.1325C>T (p.Thr442Ile)
c.824C>T (p.Thr275Ile)
c.2039C>T (p.Thr680Ile)
c.1163C>T (p.Thr388Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.27936729G>CCA376391724ODAD2c.2249C>G (p.Thr750Ser)
c.1325C>G (p.Thr442Ser)
c.824C>G (p.Thr275Ser)
c.2039C>G (p.Thr680Ser)
c.1163C>G (p.Thr388Ser)
10g.27936729G>TCA376391725ODAD2c.2249C>A (p.Thr750Asn)
c.1325C>A (p.Thr442Asn)
c.824C>A (p.Thr275Asn)
c.2039C>A (p.Thr680Asn)
c.1163C>A (p.Thr388Asn)
10g.27936730T>ACA376391728ODAD2c.2248A>T (p.Thr750Ser)
c.1324A>T (p.Thr442Ser)
c.823A>T (p.Thr275Ser)
c.2038A>T (p.Thr680Ser)
c.1162A>T (p.Thr388Ser)
10g.27936730T>CCA376391727ODAD2c.2248A>G (p.Thr750Ala)
c.1324A>G (p.Thr442Ala)
c.823A>G (p.Thr275Ala)
c.2038A>G (p.Thr680Ala)
c.1162A>G (p.Thr388Ala)
10g.27936730T>GCA376391726ODAD2c.2248A>C (p.Thr750Pro)
c.1324A>C (p.Thr442Pro)
c.823A>C (p.Thr275Pro)
c.2038A>C (p.Thr680Pro)
c.1162A>C (p.Thr388Pro)
10g.27936730dupCA204514378ODAD2c.2248dup (p.Thr750AsnfsTer10)
c.1324dup (p.Thr442AsnfsTer10)
c.823dup (p.Thr275AsnfsTer10)
c.2038dup (p.Thr680AsnfsTer10)
c.1162dup (p.Thr388AsnfsTer10)
 dbSNP
10g.27936731A>CCA468753306ODAD2c.2247T>G (p.Val749=)
c.1323T>G (p.Val441=)
c.822T>G (p.Val274=)
c.2037T>G (p.Val679=)
c.1161T>G (p.Val387=)
10g.27936731A>GCA468753307ODAD2c.2247T>C (p.Val749=)
c.1323T>C (p.Val441=)
c.822T>C (p.Val274=)
c.2037T>C (p.Val679=)
c.1161T>C (p.Val387=)
10g.27936731A>TCA468753308ODAD2c.2247T>A (p.Val749=)
c.1323T>A (p.Val441=)
c.822T>A (p.Val274=)
c.2037T>A (p.Val679=)
c.1161T>A (p.Val387=)
10g.27936732A>CCA376391729ODAD2c.2246T>G (p.Val749Gly)
c.1322T>G (p.Val441Gly)
c.821T>G (p.Val274Gly)
c.2036T>G (p.Val679Gly)
c.1160T>G (p.Val387Gly)
10g.27936732A>GCA376391730ODAD2c.2246T>C (p.Val749Ala)
c.1322T>C (p.Val441Ala)
c.821T>C (p.Val274Ala)
c.2036T>C (p.Val679Ala)
c.1160T>C (p.Val387Ala)
10g.27936732A>TCA376391731ODAD2c.2246T>A (p.Val749Asp)
c.1322T>A (p.Val441Asp)
c.821T>A (p.Val274Asp)
c.2036T>A (p.Val679Asp)
c.1160T>A (p.Val387Asp)
10g.27936732_27936736dupCA2608645751ODAD2c.2242_2246dup (p.Thr750MetfsTer18)
c.1318_1322dup (p.Thr442MetfsTer18)
c.817_821dup (p.Thr275MetfsTer18)
c.2032_2036dup (p.Thr680MetfsTer18)
c.1156_1160dup (p.Thr388MetfsTer18)
 gnomAD v4
10g.27936733C>ACA376391732ODAD2c.2245G>T (p.Val749Phe)
c.1321G>T (p.Val441Phe)
c.820G>T (p.Val274Phe)
c.2035G>T (p.Val679Phe)
c.1159G>T (p.Val387Phe)
10g.27936733C>GCA376391733ODAD2c.2245G>C (p.Val749Leu)
c.1321G>C (p.Val441Leu)
c.820G>C (p.Val274Leu)
c.2035G>C (p.Val679Leu)
c.1159G>C (p.Val387Leu)
10g.27936733C>TCA376391734ODAD2c.2245G>A (p.Val749Ile)
c.1321G>A (p.Val441Ile)
c.820G>A (p.Val274Ile)
c.2035G>A (p.Val679Ile)
c.1159G>A (p.Val387Ile)
 COSMIC
10g.27936734A>CCA376391735ODAD2c.2244T>G (p.Asn748Lys)
c.1320T>G (p.Asn440Lys)
c.819T>G (p.Asn273Lys)
c.2034T>G (p.Asn678Lys)
c.1158T>G (p.Asn386Lys)
10g.27936734A>GCA5453268ODAD2c.2244T>C (p.Asn748=)
c.1320T>C (p.Asn440=)
c.819T>C (p.Asn273=)
c.2034T>C (p.Asn678=)
c.1158T>C (p.Asn386=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.27936734A>TCA376391736ODAD2c.2244T>A (p.Asn748Lys)
c.1320T>A (p.Asn440Lys)
c.819T>A (p.Asn273Lys)
c.2034T>A (p.Asn678Lys)
c.1158T>A (p.Asn386Lys)
10g.27936735T>ACA376391737ODAD2c.2243A>T (p.Asn748Ile)
c.1319A>T (p.Asn440Ile)
c.818A>T (p.Asn273Ile)
c.2033A>T (p.Asn678Ile)
c.1157A>T (p.Asn386Ile)
10g.27936735T>CCA376391738ODAD2c.2243A>G (p.Asn748Ser)
c.1319A>G (p.Asn440Ser)
c.818A>G (p.Asn273Ser)
c.2033A>G (p.Asn678Ser)
c.1157A>G (p.Asn386Ser)
10g.27936735T>GCA376391739ODAD2c.2243A>C (p.Asn748Thr)
c.1319A>C (p.Asn440Thr)
c.818A>C (p.Asn273Thr)
c.2033A>C (p.Asn678Thr)
c.1157A>C (p.Asn386Thr)
10g.27936736T>ACA376391742ODAD2c.2242A>T (p.Asn748Tyr)
c.1318A>T (p.Asn440Tyr)
c.817A>T (p.Asn273Tyr)
c.2032A>T (p.Asn678Tyr)
c.1156A>T (p.Asn386Tyr)
10g.27936736T>CCA376391741ODAD2c.2242A>G (p.Asn748Asp)
c.1318A>G (p.Asn440Asp)
c.817A>G (p.Asn273Asp)
c.2032A>G (p.Asn678Asp)
c.1156A>G (p.Asn386Asp)
10g.27936736T>GCA376391740ODAD2c.2242A>C (p.Asn748His)
c.1318A>C (p.Asn440His)
c.817A>C (p.Asn273His)
c.2032A>C (p.Asn678His)
c.1156A>C (p.Asn386His)
10g.27936737C>ACA376391743ODAD2c.2241G>T (p.Glu747Asp)
c.1317G>T (p.Glu439Asp)
c.816G>T (p.Glu272Asp)
c.2031G>T (p.Glu677Asp)
c.1155G>T (p.Glu385Asp)
 gnomAD v4
10g.27936737C>GCA376391744ODAD2c.2241G>C (p.Glu747Asp)
c.1317G>C (p.Glu439Asp)
c.816G>C (p.Glu272Asp)
c.2031G>C (p.Glu677Asp)
c.1155G>C (p.Glu385Asp)
10g.27936737C>TCA5453269ODAD2c.2241G>A (p.Glu747=)
c.1317G>A (p.Glu439=)
c.816G>A (p.Glu272=)
c.2031G>A (p.Glu677=)
c.1155G>A (p.Glu385=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
10g.27936738T>ACA376391745ODAD2c.2240A>T (p.Glu747Val)
c.1316A>T (p.Glu439Val)
c.815A>T (p.Glu272Val)
c.2030A>T (p.Glu677Val)
c.1154A>T (p.Glu385Val)
10g.27936738T>CCA376391746ODAD2c.2240A>G (p.Glu747Gly)
c.1316A>G (p.Glu439Gly)
c.815A>G (p.Glu272Gly)
c.2030A>G (p.Glu677Gly)
c.1154A>G (p.Glu385Gly)
10g.27936738T>GCA376391747ODAD2c.2240A>C (p.Glu747Ala)
c.1316A>C (p.Glu439Ala)
c.815A>C (p.Glu272Ala)
c.2030A>C (p.Glu677Ala)
c.1154A>C (p.Glu385Ala)
10g.27936739C>ACA376391750ODAD2c.2239G>T (p.Glu747Ter)
c.1315G>T (p.Glu439Ter)
c.814G>T (p.Glu272Ter)
c.2029G>T (p.Glu677Ter)
c.1153G>T (p.Glu385Ter)
10g.27936739C>GCA376391748ODAD2c.2239G>C (p.Glu747Gln)
c.1315G>C (p.Glu439Gln)
c.814G>C (p.Glu272Gln)
c.2029G>C (p.Glu677Gln)
c.1153G>C (p.Glu385Gln)
10g.27936739C>TCA376391749ODAD2c.2239G>A (p.Glu747Lys)
c.1315G>A (p.Glu439Lys)
c.814G>A (p.Glu272Lys)
c.2029G>A (p.Glu677Lys)
c.1153G>A (p.Glu385Lys)
10g.27936740T>ACA376391751ODAD2c.2238A>T (p.Lys746Asn)
c.1314A>T (p.Lys438Asn)
c.813A>T (p.Lys271Asn)
c.2028A>T (p.Lys676Asn)
c.1152A>T (p.Lys384Asn)
10g.27936740T>CCA468753309ODAD2c.2238A>G (p.Lys746=)
c.1314A>G (p.Lys438=)
c.813A>G (p.Lys271=)
c.2028A>G (p.Lys676=)
c.1152A>G (p.Lys384=)
10g.27936740T>GCA376391752ODAD2c.2238A>C (p.Lys746Asn)
c.1314A>C (p.Lys438Asn)
c.813A>C (p.Lys271Asn)
c.2028A>C (p.Lys676Asn)
c.1152A>C (p.Lys384Asn)
10g.27936741T>ACA376391753ODAD2c.2237A>T (p.Lys746Ile)
c.1313A>T (p.Lys438Ile)
c.812A>T (p.Lys271Ile)
c.2027A>T (p.Lys676Ile)
c.1151A>T (p.Lys384Ile)
10g.27936741T>CCA376391754ODAD2c.2237A>G (p.Lys746Arg)
c.1313A>G (p.Lys438Arg)
c.812A>G (p.Lys271Arg)
c.2027A>G (p.Lys676Arg)
c.1151A>G (p.Lys384Arg)
10g.27936741T>GCA376391755ODAD2c.2237A>C (p.Lys746Thr)
c.1313A>C (p.Lys438Thr)
c.812A>C (p.Lys271Thr)
c.2027A>C (p.Lys676Thr)
c.1151A>C (p.Lys384Thr)
10g.27936742T>ACA376391756ODAD2c.2236A>T (p.Lys746Ter)
c.1312A>T (p.Lys438Ter)
c.811A>T (p.Lys271Ter)
c.2026A>T (p.Lys676Ter)
c.1150A>T (p.Lys384Ter)
10g.27936742T>CCA376391758ODAD2c.2236A>G (p.Lys746Glu)
c.1312A>G (p.Lys438Glu)
c.811A>G (p.Lys271Glu)
c.2026A>G (p.Lys676Glu)
c.1150A>G (p.Lys384Glu)
 dbSNP gnomAD v3 gnomAD v4
10g.27936742T>GCA376391757ODAD2c.2236A>C (p.Lys746Gln)
c.1312A>C (p.Lys438Gln)
c.811A>C (p.Lys271Gln)
c.2026A>C (p.Lys676Gln)
c.1150A>C (p.Lys384Gln)
10g.27936743G>ACA468753310ODAD2c.2235C>T (p.Ser745=)
c.1311C>T (p.Ser437=)
c.810C>T (p.Ser270=)
c.2025C>T (p.Ser675=)
c.1149C>T (p.Ser383=)
10g.27936743G>CCA376391759ODAD2c.2235C>G (p.Ser745Arg)
c.1311C>G (p.Ser437Arg)
c.810C>G (p.Ser270Arg)
c.2025C>G (p.Ser675Arg)
c.1149C>G (p.Ser383Arg)
10g.27936743G>TCA376391760ODAD2c.2235C>A (p.Ser745Arg)
c.1311C>A (p.Ser437Arg)
c.810C>A (p.Ser270Arg)
c.2025C>A (p.Ser675Arg)
c.1149C>A (p.Ser383Arg)
10g.27936744C>ACA376391761ODAD2c.2234G>T (p.Ser745Ile)
c.1310G>T (p.Ser437Ile)
c.809G>T (p.Ser270Ile)
c.2024G>T (p.Ser675Ile)
c.1148G>T (p.Ser383Ile)
 dbSNP gnomAD v2 gnomAD v4
10g.27936744C>GCA376391762ODAD2c.2234G>C (p.Ser745Thr)
c.1310G>C (p.Ser437Thr)
c.809G>C (p.Ser270Thr)
c.2024G>C (p.Ser675Thr)
c.1148G>C (p.Ser383Thr)
10g.27936744C>TCA376391763ODAD2c.2234G>A (p.Ser745Asn)
c.1310G>A (p.Ser437Asn)
c.809G>A (p.Ser270Asn)
c.2024G>A (p.Ser675Asn)
c.1148G>A (p.Ser383Asn)
 gnomAD v4
10g.27936745delCA2608645752ODAD2c.2233del (p.Ser745AlafsTer21)
c.1309del (p.Ser437AlafsTer21)
c.808del (p.Ser270AlafsTer21)
c.2023del (p.Ser675AlafsTer21)
c.1147del (p.Ser383AlafsTer21)
 gnomAD v4
10g.27936745T>ACA376391764ODAD2c.2233A>T (p.Ser745Cys)
c.1309A>T (p.Ser437Cys)
c.808A>T (p.Ser270Cys)
c.2023A>T (p.Ser675Cys)
c.1147A>T (p.Ser383Cys)
10g.27936745T>CCA376391765ODAD2c.2233A>G (p.Ser745Gly)
c.1309A>G (p.Ser437Gly)
c.808A>G (p.Ser270Gly)
c.2023A>G (p.Ser675Gly)
c.1147A>G (p.Ser383Gly)
 dbSNP gnomAD v2 gnomAD v4
10g.27936745T>GCA376391766ODAD2c.2233A>C (p.Ser745Arg)
c.1309A>C (p.Ser437Arg)
c.808A>C (p.Ser270Arg)
c.2023A>C (p.Ser675Arg)
c.1147A>C (p.Ser383Arg)
10g.27936746G>ACA5453270ODAD2c.2232C>T (p.Ile744=)
c.1308C>T (p.Ile436=)
c.807C>T (p.Ile269=)
c.2022C>T (p.Ile674=)
c.1146C>T (p.Ile382=)
 dbSNP ExAC gnomAD v2
10g.27936746G>CCA376391767ODAD2c.2232C>G (p.Ile744Met)
c.1308C>G (p.Ile436Met)
c.807C>G (p.Ile269Met)
c.2022C>G (p.Ile674Met)
c.1146C>G (p.Ile382Met)
10g.27936746G>TCA468753311ODAD2c.2232C>A (p.Ile744=)
c.1308C>A (p.Ile436=)
c.807C>A (p.Ile269=)
c.2022C>A (p.Ile674=)
c.1146C>A (p.Ile382=)
10g.27936747A>CCA376391770ODAD2c.2231T>G (p.Ile744Ser)
c.1307T>G (p.Ile436Ser)
c.806T>G (p.Ile269Ser)
c.2021T>G (p.Ile674Ser)
c.1145T>G (p.Ile382Ser)
10g.27936747A>GCA376391769ODAD2c.2231T>C (p.Ile744Thr)
c.1307T>C (p.Ile436Thr)
c.806T>C (p.Ile269Thr)
c.2021T>C (p.Ile674Thr)
c.1145T>C (p.Ile382Thr)
10g.27936747A>TCA376391768ODAD2c.2231T>A (p.Ile744Asn)
c.1307T>A (p.Ile436Asn)
c.806T>A (p.Ile269Asn)
c.2021T>A (p.Ile674Asn)
c.1145T>A (p.Ile382Asn)
 dbSNP gnomAD v3 gnomAD v4
10g.27936748T>ACA376391771ODAD2c.2230A>T (p.Ile744Phe)
c.1306A>T (p.Ile436Phe)
c.805A>T (p.Ile269Phe)
c.2020A>T (p.Ile674Phe)
c.1144A>T (p.Ile382Phe)
10g.27936748T>CCA5453271ODAD2c.2230A>G (p.Ile744Val)
c.1306A>G (p.Ile436Val)
c.805A>G (p.Ile269Val)
c.2020A>G (p.Ile674Val)
c.1144A>G (p.Ile382Val)
 dbSNP ExAC gnomAD v2
10g.27936748T>GCA376391772ODAD2c.2230A>C (p.Ile744Leu)
c.1306A>C (p.Ile436Leu)
c.805A>C (p.Ile269Leu)
c.2020A>C (p.Ile674Leu)
c.1144A>C (p.Ile382Leu)
10g.27936749G>ACA5453272ODAD2c.2229C>T (p.Ser743=)
c.1305C>T (p.Ser435=)
c.804C>T (p.Ser268=)
c.2019C>T (p.Ser673=)
c.1143C>T (p.Ser381=)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.27936749G>CCA468753313ODAD2c.2229C>G (p.Ser743=)
c.1305C>G (p.Ser435=)
c.804C>G (p.Ser268=)
c.2019C>G (p.Ser673=)
c.1143C>G (p.Ser381=)
10g.27936749G>TCA468753312ODAD2c.2229C>A (p.Ser743=)
c.1305C>A (p.Ser435=)
c.804C>A (p.Ser268=)
c.2019C>A (p.Ser673=)
c.1143C>A (p.Ser381=)
10g.27936750G>ACA376391773ODAD2c.2228C>T (p.Ser743Phe)
c.1304C>T (p.Ser435Phe)
c.803C>T (p.Ser268Phe)
c.2018C>T (p.Ser673Phe)
c.1142C>T (p.Ser381Phe)
10g.27936750G>CCA376391774ODAD2c.2228C>G (p.Ser743Cys)
c.1304C>G (p.Ser435Cys)
c.803C>G (p.Ser268Cys)
c.2018C>G (p.Ser673Cys)
c.1142C>G (p.Ser381Cys)
 gnomAD v4
10g.27936750G>TCA376391775ODAD2c.2228C>A (p.Ser743Tyr)
c.1304C>A (p.Ser435Tyr)
c.803C>A (p.Ser268Tyr)
c.2018C>A (p.Ser673Tyr)
c.1142C>A (p.Ser381Tyr)
10g.27936751A>CCA376391778ODAD2c.2227T>G (p.Ser743Ala)
c.1303T>G (p.Ser435Ala)
c.802T>G (p.Ser268Ala)
c.2017T>G (p.Ser673Ala)
c.1141T>G (p.Ser381Ala)
10g.27936751A>GCA376391776ODAD2c.2227T>C (p.Ser743Pro)
c.1303T>C (p.Ser435Pro)
c.802T>C (p.Ser268Pro)
c.2017T>C (p.Ser673Pro)
c.1141T>C (p.Ser381Pro)
10g.27936751A>TCA376391777ODAD2c.2227T>A (p.Ser743Thr)
c.1303T>A (p.Ser435Thr)
c.802T>A (p.Ser268Thr)
c.2017T>A (p.Ser673Thr)
c.1141T>A (p.Ser381Thr)
10g.27936752A>CCA376391779ODAD2c.2226T>G (p.Cys742Trp)
c.1302T>G (p.Cys434Trp)
c.801T>G (p.Cys267Trp)
c.2016T>G (p.Cys672Trp)
c.1140T>G (p.Cys380Trp)
10g.27936752A>GCA468753314ODAD2c.2226T>C (p.Cys742=)
c.1302T>C (p.Cys434=)
c.801T>C (p.Cys267=)
c.2016T>C (p.Cys672=)
c.1140T>C (p.Cys380=)
10g.27936752A>TCA376391780ODAD2c.2226T>A (p.Cys742Ter)
c.1302T>A (p.Cys434Ter)
c.801T>A (p.Cys267Ter)
c.2016T>A (p.Cys672Ter)
c.1140T>A (p.Cys380Ter)
 gnomAD v4
10g.27936753C>ACA376391781ODAD2c.2225G>T (p.Cys742Phe)
c.1301G>T (p.Cys434Phe)
c.800G>T (p.Cys267Phe)
c.2015G>T (p.Cys672Phe)
c.1139G>T (p.Cys380Phe)
10g.27936753C>GCA376391782ODAD2c.2225G>C (p.Cys742Ser)
c.1301G>C (p.Cys434Ser)
c.800G>C (p.Cys267Ser)
c.2015G>C (p.Cys672Ser)
c.1139G>C (p.Cys380Ser)
10g.27936753C>TCA376391783ODAD2c.2225G>A (p.Cys742Tyr)
c.1301G>A (p.Cys434Tyr)
c.800G>A (p.Cys267Tyr)
c.2015G>A (p.Cys672Tyr)
c.1139G>A (p.Cys380Tyr)
 gnomAD v4
10g.27936754A>CCA376391784ODAD2c.2224T>G (p.Cys742Gly)
c.1300T>G (p.Cys434Gly)
c.799T>G (p.Cys267Gly)
c.2014T>G (p.Cys672Gly)
c.1138T>G (p.Cys380Gly)
10g.27936754A>GCA5453274ODAD2c.2224T>C (p.Cys742Arg)
c.1300T>C (p.Cys434Arg)
c.799T>C (p.Cys267Arg)
c.2014T>C (p.Cys672Arg)
c.1138T>C (p.Cys380Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.27936754A>TCA376391785ODAD2c.2224T>A (p.Cys742Ser)
c.1300T>A (p.Cys434Ser)
c.799T>A (p.Cys267Ser)
c.2014T>A (p.Cys672Ser)
c.1138T>A (p.Cys380Ser)
10g.27936755T>ACA376391786ODAD2c.2223A>T (p.Lys741Asn)
c.1299A>T (p.Lys433Asn)
c.798A>T (p.Lys266Asn)
c.2013A>T (p.Lys671Asn)
c.1137A>T (p.Lys379Asn)
10g.27936755T>CCA468753315ODAD2c.2223A>G (p.Lys741=)
c.1299A>G (p.Lys433=)
c.798A>G (p.Lys266=)
c.2013A>G (p.Lys671=)
c.1137A>G (p.Lys379=)
 dbSNP gnomAD v2 gnomAD v4
10g.27936755T>GCA376391787ODAD2c.2223A>C (p.Lys741Asn)
c.1299A>C (p.Lys433Asn)
c.798A>C (p.Lys266Asn)
c.2013A>C (p.Lys671Asn)
c.1137A>C (p.Lys379Asn)
10g.27936757delCA5453273ODAD2c.2223del (p.Lys741AsnfsTer25)
c.1299del (p.Lys433AsnfsTer25)
c.798del (p.Lys266AsnfsTer25)
c.2013del (p.Lys671AsnfsTer25)
c.1137del (p.Lys379AsnfsTer25)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.27936756T>ACA376391788ODAD2c.2222A>T (p.Lys741Ile)
c.1298A>T (p.Lys433Ile)
c.797A>T (p.Lys266Ile)
c.2012A>T (p.Lys671Ile)
c.1136A>T (p.Lys379Ile)
 dbSNP
10g.27936756T>CCA376391789ODAD2c.2222A>G (p.Lys741Arg)
c.1298A>G (p.Lys433Arg)
c.797A>G (p.Lys266Arg)
c.2012A>G (p.Lys671Arg)
c.1136A>G (p.Lys379Arg)
10g.27936756T>GCA376391790ODAD2c.2222A>C (p.Lys741Thr)
c.1298A>C (p.Lys433Thr)
c.797A>C (p.Lys266Thr)
c.2012A>C (p.Lys671Thr)
c.1136A>C (p.Lys379Thr)
10g.27936757T>ACA376391791ODAD2c.2221A>T (p.Lys741Ter)
c.1297A>T (p.Lys433Ter)
c.796A>T (p.Lys266Ter)
c.2011A>T (p.Lys671Ter)
c.1135A>T (p.Lys379Ter)
10g.27936757T>CCA376391792ODAD2c.2221A>G (p.Lys741Glu)
c.1297A>G (p.Lys433Glu)
c.796A>G (p.Lys266Glu)
c.2011A>G (p.Lys671Glu)
c.1135A>G (p.Lys379Glu)
10g.27936757T>GCA376391793ODAD2c.2221A>C (p.Lys741Gln)
c.1297A>C (p.Lys433Gln)
c.796A>C (p.Lys266Gln)
c.2011A>C (p.Lys671Gln)
c.1135A>C (p.Lys379Gln)
10g.27936758C>ACA376391794ODAD2c.2220G>T (p.Trp740Cys)
c.1296G>T (p.Trp432Cys)
c.795G>T (p.Trp265Cys)
c.2010G>T (p.Trp670Cys)
c.1134G>T (p.Trp378Cys)
10g.27936758C>GCA376391795ODAD2c.2220G>C (p.Trp740Cys)
c.1296G>C (p.Trp432Cys)
c.795G>C (p.Trp265Cys)
c.2010G>C (p.Trp670Cys)
c.1134G>C (p.Trp378Cys)
10g.27936758C>TCA204514434ODAD2c.2220G>A (p.Trp740Ter)
c.1296G>A (p.Trp432Ter)
c.795G>A (p.Trp265Ter)
c.2010G>A (p.Trp670Ter)
c.1134G>A (p.Trp378Ter)
 dbSNP COSMIC COSMIC
10g.27936758_27936759delinsTTCA645551260ODAD2c.2219_2220delinsAA (p.Trp740Ter)
c.1295_1296delinsAA (p.Trp432Ter)
c.794_795delinsAA (p.Trp265Ter)
c.2009_2010delinsAA (p.Trp670Ter)
c.1133_1134delinsAA (p.Trp378Ter)
 COSMIC COSMIC
10g.27936759C>ACA376391796ODAD2c.2219G>T (p.Trp740Leu)
c.1295G>T (p.Trp432Leu)
c.794G>T (p.Trp265Leu)
c.2009G>T (p.Trp670Leu)
c.1133G>T (p.Trp378Leu)
10g.27936759C>GCA376391797ODAD2c.2219G>C (p.Trp740Ser)
c.1295G>C (p.Trp432Ser)
c.794G>C (p.Trp265Ser)
c.2009G>C (p.Trp670Ser)
c.1133G>C (p.Trp378Ser)
10g.27936759C>TCA5453275ODAD2c.2219G>A (p.Trp740Ter)
c.1295G>A (p.Trp432Ter)
c.794G>A (p.Trp265Ter)
c.2009G>A (p.Trp670Ter)
c.1133G>A (p.Trp378Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.27936760A>CCA376391798ODAD2c.2218T>G (p.Trp740Gly)
c.1294T>G (p.Trp432Gly)
c.793T>G (p.Trp265Gly)
c.2008T>G (p.Trp670Gly)
c.1132T>G (p.Trp378Gly)
10g.27936760A>GCA5453276ODAD2c.2218T>C (p.Trp740Arg)
c.1294T>C (p.Trp432Arg)
c.793T>C (p.Trp265Arg)
c.2008T>C (p.Trp670Arg)
c.1132T>C (p.Trp378Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.27936760A>TCA376391799ODAD2c.2218T>A (p.Trp740Arg)
c.1294T>A (p.Trp432Arg)
c.793T>A (p.Trp265Arg)
c.2008T>A (p.Trp670Arg)
c.1132T>A (p.Trp378Arg)
10g.27936761T>ACA468753316ODAD2c.2217A>T (p.Ile739=)
c.1293A>T (p.Ile431=)
c.792A>T (p.Ile264=)
c.2007A>T (p.Ile669=)
c.1131A>T (p.Ile377=)
10g.27936761T>CCA376391800ODAD2c.2217A>G (p.Ile739Met)
c.1293A>G (p.Ile431Met)
c.792A>G (p.Ile264Met)
c.2007A>G (p.Ile669Met)
c.1131A>G (p.Ile377Met)
10g.27936761T>GCA468753317ODAD2c.2217A>C (p.Ile739=)
c.1293A>C (p.Ile431=)
c.792A>C (p.Ile264=)
c.2007A>C (p.Ile669=)
c.1131A>C (p.Ile377=)
10g.27936762A>CCA376391801ODAD2c.2216T>G (p.Ile739Arg)
c.1292T>G (p.Ile431Arg)
c.791T>G (p.Ile264Arg)
c.2006T>G (p.Ile669Arg)
c.1130T>G (p.Ile377Arg)
10g.27936762A>GCA376391802ODAD2c.2216T>C (p.Ile739Thr)
c.1292T>C (p.Ile431Thr)
c.791T>C (p.Ile264Thr)
c.2006T>C (p.Ile669Thr)
c.1130T>C (p.Ile377Thr)
10g.27936762A>TCA376391803ODAD2c.2216T>A (p.Ile739Lys)
c.1292T>A (p.Ile431Lys)
c.791T>A (p.Ile264Lys)
c.2006T>A (p.Ile669Lys)
c.1130T>A (p.Ile377Lys)
10g.27936763T>ACA376391804ODAD2c.2215A>T (p.Ile739Leu)
c.1291A>T (p.Ile431Leu)
c.790A>T (p.Ile264Leu)
c.2005A>T (p.Ile669Leu)
c.1129A>T (p.Ile377Leu)
10g.27936763T>CCA376391805ODAD2c.2215A>G (p.Ile739Val)
c.1291A>G (p.Ile431Val)
c.790A>G (p.Ile264Val)
c.2005A>G (p.Ile669Val)
c.1129A>G (p.Ile377Val)
10g.27936763T>GCA376391806ODAD2c.2215A>C (p.Ile739Leu)
c.1291A>C (p.Ile431Leu)
c.790A>C (p.Ile264Leu)
c.2005A>C (p.Ile669Leu)
c.1129A>C (p.Ile377Leu)
10g.27936764A>CCA468753318ODAD2c.2214T>G (p.Ala738=)
c.1290T>G (p.Ala430=)
c.789T>G (p.Ala263=)
c.2004T>G (p.Ala668=)
c.1128T>G (p.Ala376=)
10g.27936764A>GCA468753320ODAD2c.2214T>C (p.Ala738=)
c.1290T>C (p.Ala430=)
c.789T>C (p.Ala263=)
c.2004T>C (p.Ala668=)
c.1128T>C (p.Ala376=)
10g.27936764A>TCA468753319ODAD2c.2214T>A (p.Ala738=)
c.1290T>A (p.Ala430=)
c.789T>A (p.Ala263=)
c.2004T>A (p.Ala668=)
c.1128T>A (p.Ala376=)
10g.27936765G>ACA376391807ODAD2c.2213C>T (p.Ala738Val)
c.1289C>T (p.Ala430Val)
c.788C>T (p.Ala263Val)
c.2003C>T (p.Ala668Val)
c.1127C>T (p.Ala376Val)
10g.27936765G>CCA376391808ODAD2c.2213C>G (p.Ala738Gly)
c.1289C>G (p.Ala430Gly)
c.788C>G (p.Ala263Gly)
c.2003C>G (p.Ala668Gly)
c.1127C>G (p.Ala376Gly)
10g.27936765G>TCA376391809ODAD2c.2213C>A (p.Ala738Asp)
c.1289C>A (p.Ala430Asp)
c.788C>A (p.Ala263Asp)
c.2003C>A (p.Ala668Asp)
c.1127C>A (p.Ala376Asp)

Number of alleles fetched