Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.11041376A>C | CA404073125 | SMARCA4 | c.4336A>C (p.Lys1446Gln) c.4240A>C (p.Lys1414Gln) c.4141A>C (p.Lys1381Gln) c.407A>C c.367A>C (p.Lys123Gln) c.181A>C (p.Lys61Gln) n.2481A>C c.2734A>C (p.Lys912Gln) c.1697A>C c.4237A>C (p.Lys1413Gln) c.2797A>C (p.Lys933Gln) c.4150A>C (p.Lys1384Gln) c.2525A>C c.4246A>C (p.Lys1416Gln) c.2604A>C n.733A>C c.3663A>C c.2877A>C c.2912A>C c.2894A>C c.2728A>C (p.Lys910Gln) c.789A>C c.2151A>C (n.2151A>C) c.2583A>C c.2088A>C (n.2088A>C) c.2540A>C n.743A>C c.2494A>C (p.Lys832Gln) c.4342A>C (p.Lys1448Gln) n.554A>C n.2678A>C n.2213A>C c.319A>C (p.Lys107Gln) n.2063A>C c.4249A>C (p.Lys1417Gln) n.4630A>C | |
19 | g.11041376A>G | CA404073129 | SMARCA4 | c.4336A>G (p.Lys1446Glu) c.4240A>G (p.Lys1414Glu) c.4141A>G (p.Lys1381Glu) c.407A>G c.367A>G (p.Lys123Glu) c.181A>G (p.Lys61Glu) n.2481A>G c.2734A>G (p.Lys912Glu) c.1697A>G c.4237A>G (p.Lys1413Glu) c.2797A>G (p.Lys933Glu) c.4150A>G (p.Lys1384Glu) c.2525A>G c.4246A>G (p.Lys1416Glu) c.2604A>G n.733A>G c.3663A>G c.2877A>G c.2912A>G c.2894A>G c.2728A>G (p.Lys910Glu) c.789A>G c.2151A>G (n.2151A>G) c.2583A>G c.2088A>G (n.2088A>G) c.2540A>G n.743A>G c.2494A>G (p.Lys832Glu) c.4342A>G (p.Lys1448Glu) n.554A>G n.2678A>G n.2213A>G c.319A>G (p.Lys107Glu) n.2063A>G c.4249A>G (p.Lys1417Glu) n.4630A>G | dbSNP |
19 | g.11041376A>T | CA404073107 | SMARCA4 | c.4336A>T (p.Lys1446Ter) c.4240A>T (p.Lys1414Ter) c.4141A>T (p.Lys1381Ter) c.407A>T c.367A>T (p.Lys123Ter) c.181A>T (p.Lys61Ter) n.2481A>T c.2734A>T (p.Lys912Ter) c.1697A>T c.4237A>T (p.Lys1413Ter) c.2797A>T (p.Lys933Ter) c.4150A>T (p.Lys1384Ter) c.2525A>T c.4246A>T (p.Lys1416Ter) c.2604A>T n.733A>T c.3663A>T c.2877A>T c.2912A>T c.2894A>T c.2728A>T (p.Lys910Ter) c.789A>T c.2151A>T (n.2151A>T) c.2583A>T c.2088A>T (n.2088A>T) c.2540A>T n.743A>T c.2494A>T (p.Lys832Ter) c.4342A>T (p.Lys1448Ter) n.554A>T n.2678A>T n.2213A>T c.319A>T (p.Lys107Ter) n.2063A>T c.4249A>T (p.Lys1417Ter) n.4630A>T | |
19 | g.11041377A>C | CA404073135 | SMARCA4 | c.4337A>C (p.Lys1446Thr) c.4241A>C (p.Lys1414Thr) c.4142A>C (p.Lys1381Thr) c.408A>C c.368A>C (p.Lys123Thr) c.182A>C (p.Lys61Thr) n.2482A>C c.2735A>C (p.Lys912Thr) c.1698A>C c.4238A>C (p.Lys1413Thr) c.2798A>C (p.Lys933Thr) c.4151A>C (p.Lys1384Thr) c.2526A>C c.4247A>C (p.Lys1416Thr) c.2605A>C n.734A>C c.3664A>C c.2878A>C c.2913A>C c.2895A>C c.2729A>C (p.Lys910Thr) c.790A>C c.2152A>C (n.2152A>C) c.2584A>C c.2089A>C (n.2089A>C) c.2541A>C n.744A>C c.2495A>C (p.Lys832Thr) c.4343A>C (p.Lys1448Thr) n.555A>C n.2679A>C n.2214A>C c.320A>C (p.Lys107Thr) n.2064A>C c.4250A>C (p.Lys1417Thr) n.4631A>C | |
19 | g.11041377A>G | CA404073139 | SMARCA4 | c.4337A>G (p.Lys1446Arg) c.4241A>G (p.Lys1414Arg) c.4142A>G (p.Lys1381Arg) c.408A>G c.368A>G (p.Lys123Arg) c.182A>G (p.Lys61Arg) n.2482A>G c.2735A>G (p.Lys912Arg) c.1698A>G c.4238A>G (p.Lys1413Arg) c.2798A>G (p.Lys933Arg) c.4151A>G (p.Lys1384Arg) c.2526A>G c.4247A>G (p.Lys1416Arg) c.2605A>G n.734A>G c.3664A>G c.2878A>G c.2913A>G c.2895A>G c.2729A>G (p.Lys910Arg) c.790A>G c.2152A>G (n.2152A>G) c.2584A>G c.2089A>G (n.2089A>G) c.2541A>G n.744A>G c.2495A>G (p.Lys832Arg) c.4343A>G (p.Lys1448Arg) n.555A>G n.2679A>G n.2214A>G c.320A>G (p.Lys107Arg) n.2064A>G c.4250A>G (p.Lys1417Arg) n.4631A>G | dbSNP |
19 | g.11041377A>T | CA404073142 | SMARCA4 | c.4337A>T (p.Lys1446Met) c.4241A>T (p.Lys1414Met) c.4142A>T (p.Lys1381Met) c.408A>T c.368A>T (p.Lys123Met) c.182A>T (p.Lys61Met) n.2482A>T c.2735A>T (p.Lys912Met) c.1698A>T c.4238A>T (p.Lys1413Met) c.2798A>T (p.Lys933Met) c.4151A>T (p.Lys1384Met) c.2526A>T c.4247A>T (p.Lys1416Met) c.2605A>T n.734A>T c.3664A>T c.2878A>T c.2913A>T c.2895A>T c.2729A>T (p.Lys910Met) c.790A>T c.2152A>T (n.2152A>T) c.2584A>T c.2089A>T (n.2089A>T) c.2541A>T n.744A>T c.2495A>T (p.Lys832Met) c.4343A>T (p.Lys1448Met) n.555A>T n.2679A>T n.2214A>T c.320A>T (p.Lys107Met) n.2064A>T c.4250A>T (p.Lys1417Met) n.4631A>T | dbSNP |
19 | g.11041378G>A | CA505743822 | SMARCA4 | c.4338G>A (p.Lys1446=) c.4242G>A (p.Lys1414=) c.4143G>A (p.Lys1381=) c.409G>A c.369G>A (p.Lys123=) c.183G>A (p.Lys61=) n.2483G>A c.2736G>A (p.Lys912=) c.1699G>A c.4239G>A (p.Lys1413=) c.2799G>A (p.Lys933=) c.4152G>A (p.Lys1384=) c.2527G>A c.4248G>A (p.Lys1416=) c.2606G>A n.735G>A c.3665G>A c.2879G>A c.2914G>A c.2896G>A c.2730G>A (p.Lys910=) c.791G>A c.2153G>A (n.2153G>A) c.2585G>A c.2090G>A (n.2090G>A) c.2542G>A n.745G>A c.2496G>A (p.Lys832=) c.4344G>A (p.Lys1448=) n.556G>A n.2680G>A n.2215G>A c.321G>A (p.Lys107=) n.2065G>A c.4251G>A (p.Lys1417=) n.4632G>A | dbSNP |
19 | g.11041378G>C | CA404073146 | SMARCA4 | c.4338G>C (p.Lys1446Asn) c.4242G>C (p.Lys1414Asn) c.4143G>C (p.Lys1381Asn) c.409G>C c.369G>C (p.Lys123Asn) c.183G>C (p.Lys61Asn) n.2483G>C c.2736G>C (p.Lys912Asn) c.1699G>C c.4239G>C (p.Lys1413Asn) c.2799G>C (p.Lys933Asn) c.4152G>C (p.Lys1384Asn) c.2527G>C c.4248G>C (p.Lys1416Asn) c.2606G>C n.735G>C c.3665G>C c.2879G>C c.2914G>C c.2896G>C c.2730G>C (p.Lys910Asn) c.791G>C c.2153G>C (n.2153G>C) c.2585G>C c.2090G>C (n.2090G>C) c.2542G>C n.745G>C c.2496G>C (p.Lys832Asn) c.4344G>C (p.Lys1448Asn) n.556G>C n.2680G>C n.2215G>C c.321G>C (p.Lys107Asn) n.2065G>C c.4251G>C (p.Lys1417Asn) n.4632G>C | dbSNP |
19 | g.11041378G>T | CA404073150 | SMARCA4 | c.4338G>T (p.Lys1446Asn) c.4242G>T (p.Lys1414Asn) c.4143G>T (p.Lys1381Asn) c.409G>T c.369G>T (p.Lys123Asn) c.183G>T (p.Lys61Asn) n.2483G>T c.2736G>T (p.Lys912Asn) c.1699G>T c.4239G>T (p.Lys1413Asn) c.2799G>T (p.Lys933Asn) c.4152G>T (p.Lys1384Asn) c.2527G>T c.4248G>T (p.Lys1416Asn) c.2606G>T n.735G>T c.3665G>T c.2879G>T c.2914G>T c.2896G>T c.2730G>T (p.Lys910Asn) c.791G>T c.2153G>T (n.2153G>T) c.2585G>T c.2090G>T (n.2090G>T) c.2542G>T n.745G>T c.2496G>T (p.Lys832Asn) c.4344G>T (p.Lys1448Asn) n.556G>T n.2680G>T n.2215G>T c.321G>T (p.Lys107Asn) n.2065G>T c.4251G>T (p.Lys1417Asn) n.4632G>T | dbSNP |
19 | g.11041379C>A | CA505743823 | SMARCA4 | c.4339C>A (p.Arg1447=) c.4243C>A (p.Arg1415=) c.4144C>A (p.Arg1382=) c.410C>A c.370C>A (p.Arg124=) c.184C>A (p.Arg62=) n.2484C>A c.2737C>A (p.Arg913=) c.1700C>A c.4240C>A (p.Arg1414=) c.2800C>A (p.Arg934=) c.4153C>A (p.Arg1385=) c.2528C>A c.4249C>A (p.Arg1417=) c.2607C>A n.736C>A c.3666C>A c.2880C>A c.2915C>A c.2897C>A c.2731C>A (p.Arg911=) c.792C>A c.2154C>A (n.2154C>A) c.2586C>A c.2091C>A (n.2091C>A) c.2543C>A n.746C>A c.2497C>A (p.Arg833=) c.4345C>A (p.Arg1449=) n.557C>A n.2681C>A n.2216C>A c.322C>A (p.Arg108=) n.2066C>A c.4252C>A (p.Arg1418=) n.4633C>A | ClinVar dbSNP gnomAD v4 |
19 | g.11041379C= | CA2322734807 | SMARCA4 | c.4339C= (p.Arg1447=) c.4243C= (p.Arg1415=) c.4144C= (p.Arg1382=) c.410C= c.370C= (p.Arg124=) c.184C= (p.Arg62=) n.2484C= c.2737C= (p.Arg913=) c.1700C= c.4240C= (p.Arg1414=) c.2800C= (p.Arg934=) c.4153C= (p.Arg1385=) c.2528C= c.4249C= (p.Arg1417=) c.2607C= n.736C= c.3666C= c.2880C= c.2915C= c.2897C= c.2731C= (p.Arg911=) c.792C= c.2154C= (n.2154C=) c.2586C= c.2091C= (n.2091C=) c.2543C= n.746C= c.2497C= (p.Arg833=) c.4345C= (p.Arg1449=) n.557C= n.2681C= n.2216C= c.322C= (p.Arg108=) n.2066C= c.4252C= (p.Arg1418=) n.4633C= | |
19 | g.11041379C>G | CA404073153 | SMARCA4 | c.4339C>G (p.Arg1447Gly) c.4243C>G (p.Arg1415Gly) c.4144C>G (p.Arg1382Gly) c.410C>G c.370C>G (p.Arg124Gly) c.184C>G (p.Arg62Gly) n.2484C>G c.2737C>G (p.Arg913Gly) c.1700C>G c.4240C>G (p.Arg1414Gly) c.2800C>G (p.Arg934Gly) c.4153C>G (p.Arg1385Gly) c.2528C>G c.4249C>G (p.Arg1417Gly) c.2607C>G n.736C>G c.3666C>G c.2880C>G c.2915C>G c.2897C>G c.2731C>G (p.Arg911Gly) c.792C>G c.2154C>G (n.2154C>G) c.2586C>G c.2091C>G (n.2091C>G) c.2543C>G n.746C>G c.2497C>G (p.Arg833Gly) c.4345C>G (p.Arg1449Gly) n.557C>G n.2681C>G n.2216C>G c.322C>G (p.Arg108Gly) n.2066C>G c.4252C>G (p.Arg1418Gly) n.4633C>G | dbSNP |
19 | g.11041379C>T | CA10583754 | SMARCA4 | c.4339C>T (p.Arg1447Ter) c.4243C>T (p.Arg1415Ter) c.4144C>T (p.Arg1382Ter) c.410C>T c.370C>T (p.Arg124Ter) c.184C>T (p.Arg62Ter) n.2484C>T c.2737C>T (p.Arg913Ter) c.1700C>T c.4240C>T (p.Arg1414Ter) c.2800C>T (p.Arg934Ter) c.4153C>T (p.Arg1385Ter) c.2528C>T c.4249C>T (p.Arg1417Ter) c.2607C>T n.736C>T c.3666C>T c.2880C>T c.2915C>T c.2897C>T c.2731C>T (p.Arg911Ter) c.792C>T c.2154C>T (n.2154C>T) c.2586C>T c.2091C>T (n.2091C>T) c.2543C>T n.746C>T c.2497C>T (p.Arg833Ter) c.4345C>T (p.Arg1449Ter) n.557C>T n.2681C>T n.2216C>T c.322C>T (p.Arg108Ter) n.2066C>T c.4252C>T (p.Arg1418Ter) n.4633C>T | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
19 | g.11041380G>A | CA10583755 | SMARCA4 | c.4340G>A (p.Arg1447Gln) c.4244G>A (p.Arg1415Gln) c.4145G>A (p.Arg1382Gln) c.411G>A c.371G>A (p.Arg124Gln) c.185G>A (p.Arg62Gln) n.2485G>A c.2738G>A (p.Arg913Gln) c.1701G>A c.4241G>A (p.Arg1414Gln) c.2801G>A (p.Arg934Gln) c.4154G>A (p.Arg1385Gln) c.2529G>A c.4250G>A (p.Arg1417Gln) c.2608G>A n.737G>A c.3667G>A c.2881G>A c.2916G>A c.2898G>A c.2732G>A (p.Arg911Gln) c.793G>A c.2155G>A (n.2155G>A) c.2587G>A c.2092G>A (n.2092G>A) c.2544G>A n.747G>A c.2498G>A (p.Arg833Gln) c.4346G>A (p.Arg1449Gln) n.558G>A n.2682G>A n.2217G>A c.323G>A (p.Arg108Gln) n.2067G>A c.4253G>A (p.Arg1418Gln) n.4634G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11041380G>C | CA404073163 | SMARCA4 | c.4340G>C (p.Arg1447Pro) c.4244G>C (p.Arg1415Pro) c.4145G>C (p.Arg1382Pro) c.411G>C c.371G>C (p.Arg124Pro) c.185G>C (p.Arg62Pro) n.2485G>C c.2738G>C (p.Arg913Pro) c.1701G>C c.4241G>C (p.Arg1414Pro) c.2801G>C (p.Arg934Pro) c.4154G>C (p.Arg1385Pro) c.2529G>C c.4250G>C (p.Arg1417Pro) c.2608G>C n.737G>C c.3667G>C c.2881G>C c.2916G>C c.2898G>C c.2732G>C (p.Arg911Pro) c.793G>C c.2155G>C (n.2155G>C) c.2587G>C c.2092G>C (n.2092G>C) c.2544G>C n.747G>C c.2498G>C (p.Arg833Pro) c.4346G>C (p.Arg1449Pro) n.558G>C n.2682G>C n.2217G>C c.323G>C (p.Arg108Pro) n.2067G>C c.4253G>C (p.Arg1418Pro) n.4634G>C | |
19 | g.11041380G= | CA2322734813 | SMARCA4 | c.4340G= (p.Arg1447=) c.4244G= (p.Arg1415=) c.4145G= (p.Arg1382=) c.411G= c.371G= (p.Arg124=) c.185G= (p.Arg62=) n.2485G= c.2738G= (p.Arg913=) c.1701G= c.4241G= (p.Arg1414=) c.2801G= (p.Arg934=) c.4154G= (p.Arg1385=) c.2529G= c.4250G= (p.Arg1417=) c.2608G= n.737G= c.3667G= c.2881G= c.2916G= c.2898G= c.2732G= (p.Arg911=) c.793G= c.2155G= (n.2155G=) c.2587G= c.2092G= (n.2092G=) c.2544G= n.747G= c.2498G= (p.Arg833=) c.4346G= (p.Arg1449=) n.558G= n.2682G= n.2217G= c.323G= (p.Arg108=) n.2067G= c.4253G= (p.Arg1418=) n.4634G= | |
19 | g.11041380G>T | CA404073168 | SMARCA4 | c.4340G>T (p.Arg1447Leu) c.4244G>T (p.Arg1415Leu) c.4145G>T (p.Arg1382Leu) c.411G>T c.371G>T (p.Arg124Leu) c.185G>T (p.Arg62Leu) n.2485G>T c.2738G>T (p.Arg913Leu) c.1701G>T c.4241G>T (p.Arg1414Leu) c.2801G>T (p.Arg934Leu) c.4154G>T (p.Arg1385Leu) c.2529G>T c.4250G>T (p.Arg1417Leu) c.2608G>T n.737G>T c.3667G>T c.2881G>T c.2916G>T c.2898G>T c.2732G>T (p.Arg911Leu) c.793G>T c.2155G>T (n.2155G>T) c.2587G>T c.2092G>T (n.2092G>T) c.2544G>T n.747G>T c.2498G>T (p.Arg833Leu) c.4346G>T (p.Arg1449Leu) n.558G>T n.2682G>T n.2217G>T c.323G>T (p.Arg108Leu) n.2067G>T c.4253G>T (p.Arg1418Leu) n.4634G>T | |
19 | g.11041381A>C | CA505743824 | SMARCA4 | c.4341A>C (p.Arg1447=) c.4245A>C (p.Arg1415=) c.4146A>C (p.Arg1382=) c.412A>C c.372A>C (p.Arg124=) c.186A>C (p.Arg62=) n.2486A>C c.2739A>C (p.Arg913=) c.1702A>C c.4242A>C (p.Arg1414=) c.2802A>C (p.Arg934=) c.4155A>C (p.Arg1385=) c.2530A>C c.4251A>C (p.Arg1417=) c.2609A>C n.738A>C c.3668A>C c.2882A>C c.2917A>C c.2899A>C c.2733A>C (p.Arg911=) c.794A>C c.2156A>C (n.2156A>C) c.2588A>C c.2093A>C (n.2093A>C) c.2545A>C n.748A>C c.2499A>C (p.Arg833=) c.4347A>C (p.Arg1449=) n.559A>C n.2683A>C n.2218A>C c.324A>C (p.Arg108=) n.2068A>C c.4254A>C (p.Arg1418=) n.4635A>C | ClinVar |
19 | g.11041381A>G | CA505743825 | SMARCA4 | c.4341A>G (p.Arg1447=) c.4245A>G (p.Arg1415=) c.4146A>G (p.Arg1382=) c.412A>G c.372A>G (p.Arg124=) c.186A>G (p.Arg62=) n.2486A>G c.2739A>G (p.Arg913=) c.1702A>G c.4242A>G (p.Arg1414=) c.2802A>G (p.Arg934=) c.4155A>G (p.Arg1385=) c.2530A>G c.4251A>G (p.Arg1417=) c.2609A>G n.738A>G c.3668A>G c.2882A>G c.2917A>G c.2899A>G c.2733A>G (p.Arg911=) c.794A>G c.2156A>G (n.2156A>G) c.2588A>G c.2093A>G (n.2093A>G) c.2545A>G n.748A>G c.2499A>G (p.Arg833=) c.4347A>G (p.Arg1449=) n.559A>G n.2683A>G n.2218A>G c.324A>G (p.Arg108=) n.2068A>G c.4254A>G (p.Arg1418=) n.4635A>G | |
19 | g.11041381A>T | CA505743826 | SMARCA4 | c.4341A>T (p.Arg1447=) c.4245A>T (p.Arg1415=) c.4146A>T (p.Arg1382=) c.412A>T c.372A>T (p.Arg124=) c.186A>T (p.Arg62=) n.2486A>T c.2739A>T (p.Arg913=) c.1702A>T c.4242A>T (p.Arg1414=) c.2802A>T (p.Arg934=) c.4155A>T (p.Arg1385=) c.2530A>T c.4251A>T (p.Arg1417=) c.2609A>T n.738A>T c.3668A>T c.2882A>T c.2917A>T c.2899A>T c.2733A>T (p.Arg911=) c.794A>T c.2156A>T (n.2156A>T) c.2588A>T c.2093A>T (n.2093A>T) c.2545A>T n.748A>T c.2499A>T (p.Arg833=) c.4347A>T (p.Arg1449=) n.559A>T n.2683A>T n.2218A>T c.324A>T (p.Arg108=) n.2068A>T c.4254A>T (p.Arg1418=) n.4635A>T | ClinVar dbSNP |
19 | g.11041382G>A | CA404073173 | SMARCA4 | c.4342G>A (p.Asp1448Asn) c.4246G>A (p.Asp1416Asn) c.4147G>A (p.Asp1383Asn) c.413G>A c.373G>A (p.Asp125Asn) c.187G>A (p.Asp63Asn) n.2487G>A c.2740G>A (p.Asp914Asn) c.1703G>A c.4243G>A (p.Asp1415Asn) c.2803G>A (p.Asp935Asn) c.4156G>A (p.Asp1386Asn) c.2531G>A c.4252G>A (p.Asp1418Asn) c.2610G>A n.739G>A c.3669G>A c.2883G>A c.2918G>A c.2900G>A c.2734G>A (p.Asp912Asn) c.795G>A c.2157G>A (n.2157G>A) c.2589G>A c.2094G>A (n.2094G>A) c.2546G>A n.749G>A c.2500G>A (p.Asp834Asn) c.4348G>A (p.Asp1450Asn) n.560G>A n.2684G>A n.2219G>A c.325G>A (p.Asp109Asn) n.2069G>A c.4255G>A (p.Asp1419Asn) n.4636G>A | ClinVar dbSNP gnomAD v4 |
19 | g.11041382G>C | CA404073184 | SMARCA4 | c.4342G>C (p.Asp1448His) c.4246G>C (p.Asp1416His) c.4147G>C (p.Asp1383His) c.413G>C c.373G>C (p.Asp125His) c.187G>C (p.Asp63His) n.2487G>C c.2740G>C (p.Asp914His) c.1703G>C c.4243G>C (p.Asp1415His) c.2803G>C (p.Asp935His) c.4156G>C (p.Asp1386His) c.2531G>C c.4252G>C (p.Asp1418His) c.2610G>C n.739G>C c.3669G>C c.2883G>C c.2918G>C c.2900G>C c.2734G>C (p.Asp912His) c.795G>C c.2157G>C (n.2157G>C) c.2589G>C c.2094G>C (n.2094G>C) c.2546G>C n.749G>C c.2500G>C (p.Asp834His) c.4348G>C (p.Asp1450His) n.560G>C n.2684G>C n.2219G>C c.325G>C (p.Asp109His) n.2069G>C c.4255G>C (p.Asp1419His) n.4636G>C | ClinVar dbSNP |
19 | g.11041382G= | CA2322734819 | SMARCA4 | c.4342G= (p.Asp1448=) c.4246G= (p.Asp1416=) c.4147G= (p.Asp1383=) c.413G= c.373G= (p.Asp125=) c.187G= (p.Asp63=) n.2487G= c.2740G= (p.Asp914=) c.1703G= c.4243G= (p.Asp1415=) c.2803G= (p.Asp935=) c.4156G= (p.Asp1386=) c.2531G= c.4252G= (p.Asp1418=) c.2610G= n.739G= c.3669G= c.2883G= c.2918G= c.2900G= c.2734G= (p.Asp912=) c.795G= c.2157G= (n.2157G=) c.2589G= c.2094G= (n.2094G=) c.2546G= n.749G= c.2500G= (p.Asp834=) c.4348G= (p.Asp1450=) n.560G= n.2684G= n.2219G= c.325G= (p.Asp109=) n.2069G= c.4255G= (p.Asp1419=) n.4636G= | |
19 | g.11041382G>T | CA404073186 | SMARCA4 | c.4342G>T (p.Asp1448Tyr) c.4246G>T (p.Asp1416Tyr) c.4147G>T (p.Asp1383Tyr) c.413G>T c.373G>T (p.Asp125Tyr) c.187G>T (p.Asp63Tyr) n.2487G>T c.2740G>T (p.Asp914Tyr) c.1703G>T c.4243G>T (p.Asp1415Tyr) c.2803G>T (p.Asp935Tyr) c.4156G>T (p.Asp1386Tyr) c.2531G>T c.4252G>T (p.Asp1418Tyr) c.2610G>T n.739G>T c.3669G>T c.2883G>T c.2918G>T c.2900G>T c.2734G>T (p.Asp912Tyr) c.795G>T c.2157G>T (n.2157G>T) c.2589G>T c.2094G>T (n.2094G>T) c.2546G>T n.749G>T c.2500G>T (p.Asp834Tyr) c.4348G>T (p.Asp1450Tyr) n.560G>T n.2684G>T n.2219G>T c.325G>T (p.Asp109Tyr) n.2069G>T c.4255G>T (p.Asp1419Tyr) n.4636G>T | |
19 | g.11041383A>C | CA404073196 | SMARCA4 | c.4343A>C (p.Asp1448Ala) c.4247A>C (p.Asp1416Ala) c.4148A>C (p.Asp1383Ala) c.414A>C c.374A>C (p.Asp125Ala) c.188A>C (p.Asp63Ala) n.2488A>C c.2741A>C (p.Asp914Ala) c.1704A>C c.4244A>C (p.Asp1415Ala) c.2804A>C (p.Asp935Ala) c.4157A>C (p.Asp1386Ala) c.2532A>C c.4253A>C (p.Asp1418Ala) c.2611A>C n.740A>C c.3670A>C c.2884A>C c.2919A>C c.2901A>C c.2735A>C (p.Asp912Ala) c.796A>C c.2158A>C (n.2158A>C) c.2590A>C c.2095A>C (n.2095A>C) c.2547A>C n.750A>C c.2501A>C (p.Asp834Ala) c.4349A>C (p.Asp1450Ala) n.561A>C n.2685A>C n.2220A>C c.326A>C (p.Asp109Ala) n.2070A>C c.4256A>C (p.Asp1419Ala) n.4637A>C | dbSNP |
19 | g.11041383A>G | CA404073192 | SMARCA4 | c.4343A>G (p.Asp1448Gly) c.4247A>G (p.Asp1416Gly) c.4148A>G (p.Asp1383Gly) c.414A>G c.374A>G (p.Asp125Gly) c.188A>G (p.Asp63Gly) n.2488A>G c.2741A>G (p.Asp914Gly) c.1704A>G c.4244A>G (p.Asp1415Gly) c.2804A>G (p.Asp935Gly) c.4157A>G (p.Asp1386Gly) c.2532A>G c.4253A>G (p.Asp1418Gly) c.2611A>G n.740A>G c.3670A>G c.2884A>G c.2919A>G c.2901A>G c.2735A>G (p.Asp912Gly) c.796A>G c.2158A>G (n.2158A>G) c.2590A>G c.2095A>G (n.2095A>G) c.2547A>G n.750A>G c.2501A>G (p.Asp834Gly) c.4349A>G (p.Asp1450Gly) n.561A>G n.2685A>G n.2220A>G c.326A>G (p.Asp109Gly) n.2070A>G c.4256A>G (p.Asp1419Gly) n.4637A>G | dbSNP |
19 | g.11041383A>T | CA404073190 | SMARCA4 | c.4343A>T (p.Asp1448Val) c.4247A>T (p.Asp1416Val) c.4148A>T (p.Asp1383Val) c.414A>T c.374A>T (p.Asp125Val) c.188A>T (p.Asp63Val) n.2488A>T c.2741A>T (p.Asp914Val) c.1704A>T c.4244A>T (p.Asp1415Val) c.2804A>T (p.Asp935Val) c.4157A>T (p.Asp1386Val) c.2532A>T c.4253A>T (p.Asp1418Val) c.2611A>T n.740A>T c.3670A>T c.2884A>T c.2919A>T c.2901A>T c.2735A>T (p.Asp912Val) c.796A>T c.2158A>T (n.2158A>T) c.2590A>T c.2095A>T (n.2095A>T) c.2547A>T n.750A>T c.2501A>T (p.Asp834Val) c.4349A>T (p.Asp1450Val) n.561A>T n.2685A>T n.2220A>T c.326A>T (p.Asp109Val) n.2070A>T c.4256A>T (p.Asp1419Val) n.4637A>T | dbSNP |
19 | g.11041384C>A | CA404073200 | SMARCA4 | c.4344C>A (p.Asp1448Glu) c.4248C>A (p.Asp1416Glu) c.4149C>A (p.Asp1383Glu) c.415C>A c.375C>A (p.Asp125Glu) c.189C>A (p.Asp63Glu) n.2489C>A c.2742C>A (p.Asp914Glu) c.1705C>A c.4245C>A (p.Asp1415Glu) c.2805C>A (p.Asp935Glu) c.4158C>A (p.Asp1386Glu) c.2533C>A c.4254C>A (p.Asp1418Glu) c.2612C>A n.741C>A c.3671C>A c.2885C>A c.2920C>A c.2902C>A c.2736C>A (p.Asp912Glu) c.797C>A c.2159C>A (n.2159C>A) c.2591C>A c.2096C>A (n.2096C>A) c.2548C>A n.751C>A c.2502C>A (p.Asp834Glu) c.4350C>A (p.Asp1450Glu) n.562C>A n.2686C>A n.2221C>A c.327C>A (p.Asp109Glu) n.2071C>A c.4257C>A (p.Asp1419Glu) n.4638C>A | dbSNP |
19 | g.11041384C= | CA2322734826 | SMARCA4 | c.4344C= (p.Asp1448=) c.4248C= (p.Asp1416=) c.4149C= (p.Asp1383=) c.415C= c.375C= (p.Asp125=) c.189C= (p.Asp63=) n.2489C= c.2742C= (p.Asp914=) c.1705C= c.4245C= (p.Asp1415=) c.2805C= (p.Asp935=) c.4158C= (p.Asp1386=) c.2533C= c.4254C= (p.Asp1418=) c.2612C= n.741C= c.3671C= c.2885C= c.2920C= c.2902C= c.2736C= (p.Asp912=) c.797C= c.2159C= (n.2159C=) c.2591C= c.2096C= (n.2096C=) c.2548C= n.751C= c.2502C= (p.Asp834=) c.4350C= (p.Asp1450=) n.562C= n.2686C= n.2221C= c.327C= (p.Asp109=) n.2071C= c.4257C= (p.Asp1419=) n.4638C= | |
19 | g.11041384C>G | CA404073204 | SMARCA4 | c.4344C>G (p.Asp1448Glu) c.4248C>G (p.Asp1416Glu) c.4149C>G (p.Asp1383Glu) c.415C>G c.375C>G (p.Asp125Glu) c.189C>G (p.Asp63Glu) n.2489C>G c.2742C>G (p.Asp914Glu) c.1705C>G c.4245C>G (p.Asp1415Glu) c.2805C>G (p.Asp935Glu) c.4158C>G (p.Asp1386Glu) c.2533C>G c.4254C>G (p.Asp1418Glu) c.2612C>G n.741C>G c.3671C>G c.2885C>G c.2920C>G c.2902C>G c.2736C>G (p.Asp912Glu) c.797C>G c.2159C>G (n.2159C>G) c.2591C>G c.2096C>G (n.2096C>G) c.2548C>G n.751C>G c.2502C>G (p.Asp834Glu) c.4350C>G (p.Asp1450Glu) n.562C>G n.2686C>G n.2221C>G c.327C>G (p.Asp109Glu) n.2071C>G c.4257C>G (p.Asp1419Glu) n.4638C>G | dbSNP |
19 | g.11041384C>T | CA16616191 | SMARCA4 | c.4344C>T (p.Asp1448=) c.4248C>T (p.Asp1416=) c.4149C>T (p.Asp1383=) c.415C>T c.375C>T (p.Asp125=) c.189C>T (p.Asp63=) n.2489C>T c.2742C>T (p.Asp914=) c.1705C>T c.4245C>T (p.Asp1415=) c.2805C>T (p.Asp935=) c.4158C>T (p.Asp1386=) c.2533C>T c.4254C>T (p.Asp1418=) c.2612C>T n.741C>T c.3671C>T c.2885C>T c.2920C>T c.2902C>T c.2736C>T (p.Asp912=) c.797C>T c.2159C>T (n.2159C>T) c.2591C>T c.2096C>T (n.2096C>T) c.2548C>T n.751C>T c.2502C>T (p.Asp834=) c.4350C>T (p.Asp1450=) n.562C>T n.2686C>T n.2221C>T c.327C>T (p.Asp109=) n.2071C>T c.4257C>T (p.Asp1419=) n.4638C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.11041385A= | CA2322734830 | SMARCA4 | c.4345A= (p.Ser1449=) c.4249A= (p.Ser1417=) c.4150A= (p.Ser1384=) c.416A= c.376A= (p.Ser126=) c.190A= (p.Ser64=) n.2490A= c.2743A= (p.Ser915=) c.1706A= c.4246A= (p.Ser1416=) c.2806A= (p.Ser936=) c.4159A= (p.Ser1387=) c.2534A= c.4255A= (p.Ser1419=) c.2613A= n.742A= c.3672A= c.2886A= c.2921A= c.2903A= c.2737A= (p.Ser913=) c.798A= c.2160A= (n.2160A=) c.2592A= c.2097A= (n.2097A=) c.2549A= n.752A= c.2503A= (p.Ser835=) c.4351A= (p.Ser1451=) n.563A= n.2687A= n.2222A= c.328A= (p.Ser110=) n.2072A= c.4258A= (p.Ser1420=) n.4639A= | |
19 | g.11041385A>C | CA404073211 | SMARCA4 | c.4345A>C (p.Ser1449Arg) c.4249A>C (p.Ser1417Arg) c.4150A>C (p.Ser1384Arg) c.416A>C c.376A>C (p.Ser126Arg) c.190A>C (p.Ser64Arg) n.2490A>C c.2743A>C (p.Ser915Arg) c.1706A>C c.4246A>C (p.Ser1416Arg) c.2806A>C (p.Ser936Arg) c.4159A>C (p.Ser1387Arg) c.2534A>C c.4255A>C (p.Ser1419Arg) c.2613A>C n.742A>C c.3672A>C c.2886A>C c.2921A>C c.2903A>C c.2737A>C (p.Ser913Arg) c.798A>C c.2160A>C (n.2160A>C) c.2592A>C c.2097A>C (n.2097A>C) c.2549A>C n.752A>C c.2503A>C (p.Ser835Arg) c.4351A>C (p.Ser1451Arg) n.563A>C n.2687A>C n.2222A>C c.328A>C (p.Ser110Arg) n.2072A>C c.4258A>C (p.Ser1420Arg) n.4639A>C | dbSNP |
19 | g.11041385A>G | CA9204681 | SMARCA4 | c.4345A>G (p.Ser1449Gly) c.4249A>G (p.Ser1417Gly) c.4150A>G (p.Ser1384Gly) c.416A>G c.376A>G (p.Ser126Gly) c.190A>G (p.Ser64Gly) n.2490A>G c.2743A>G (p.Ser915Gly) c.1706A>G c.4246A>G (p.Ser1416Gly) c.2806A>G (p.Ser936Gly) c.4159A>G (p.Ser1387Gly) c.2534A>G c.4255A>G (p.Ser1419Gly) c.2613A>G n.742A>G c.3672A>G c.2886A>G c.2921A>G c.2903A>G c.2737A>G (p.Ser913Gly) c.798A>G c.2160A>G (n.2160A>G) c.2592A>G c.2097A>G (n.2097A>G) c.2549A>G n.752A>G c.2503A>G (p.Ser835Gly) c.4351A>G (p.Ser1451Gly) n.563A>G n.2687A>G n.2222A>G c.328A>G (p.Ser110Gly) n.2072A>G c.4258A>G (p.Ser1420Gly) n.4639A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11041385A>T | CA404073217 | SMARCA4 | c.4345A>T (p.Ser1449Cys) c.4249A>T (p.Ser1417Cys) c.4150A>T (p.Ser1384Cys) c.416A>T c.376A>T (p.Ser126Cys) c.190A>T (p.Ser64Cys) n.2490A>T c.2743A>T (p.Ser915Cys) c.1706A>T c.4246A>T (p.Ser1416Cys) c.2806A>T (p.Ser936Cys) c.4159A>T (p.Ser1387Cys) c.2534A>T c.4255A>T (p.Ser1419Cys) c.2613A>T n.742A>T c.3672A>T c.2886A>T c.2921A>T c.2903A>T c.2737A>T (p.Ser913Cys) c.798A>T c.2160A>T (n.2160A>T) c.2592A>T c.2097A>T (n.2097A>T) c.2549A>T n.752A>T c.2503A>T (p.Ser835Cys) c.4351A>T (p.Ser1451Cys) n.563A>T n.2687A>T n.2222A>T c.328A>T (p.Ser110Cys) n.2072A>T c.4258A>T (p.Ser1420Cys) n.4639A>T | dbSNP |
19 | g.11041386G>A | CA404073223 | SMARCA4 | c.4346G>A (p.Ser1449Asn) c.4250G>A (p.Ser1417Asn) c.4151G>A (p.Ser1384Asn) c.417G>A c.377G>A (p.Ser126Asn) c.191G>A (p.Ser64Asn) n.2491G>A c.2744G>A (p.Ser915Asn) c.1707G>A c.4247G>A (p.Ser1416Asn) c.2807G>A (p.Ser936Asn) c.4160G>A (p.Ser1387Asn) c.2535G>A c.4256G>A (p.Ser1419Asn) c.2614G>A n.743G>A c.3673G>A c.2887G>A c.2922G>A c.2904G>A c.2738G>A (p.Ser913Asn) c.799G>A c.2161G>A (n.2161G>A) c.2593G>A c.2098G>A (n.2098G>A) c.2550G>A n.753G>A c.2504G>A (p.Ser835Asn) c.4352G>A (p.Ser1451Asn) n.564G>A n.2688G>A n.2223G>A c.329G>A (p.Ser110Asn) n.2073G>A c.4259G>A (p.Ser1420Asn) n.4640G>A | ClinVar dbSNP |
19 | g.11041386G>C | CA404073224 | SMARCA4 | c.4346G>C (p.Ser1449Thr) c.4250G>C (p.Ser1417Thr) c.4151G>C (p.Ser1384Thr) c.417G>C c.377G>C (p.Ser126Thr) c.191G>C (p.Ser64Thr) n.2491G>C c.2744G>C (p.Ser915Thr) c.1707G>C c.4247G>C (p.Ser1416Thr) c.2807G>C (p.Ser936Thr) c.4160G>C (p.Ser1387Thr) c.2535G>C c.4256G>C (p.Ser1419Thr) c.2614G>C n.743G>C c.3673G>C c.2887G>C c.2922G>C c.2904G>C c.2738G>C (p.Ser913Thr) c.799G>C c.2161G>C (n.2161G>C) c.2593G>C c.2098G>C (n.2098G>C) c.2550G>C n.753G>C c.2504G>C (p.Ser835Thr) c.4352G>C (p.Ser1451Thr) n.564G>C n.2688G>C n.2223G>C c.329G>C (p.Ser110Thr) n.2073G>C c.4259G>C (p.Ser1420Thr) n.4640G>C | dbSNP |
19 | g.11041386G= | CA2322734838 | SMARCA4 | c.4346G= (p.Ser1449=) c.4250G= (p.Ser1417=) c.4151G= (p.Ser1384=) c.417G= c.377G= (p.Ser126=) c.191G= (p.Ser64=) n.2491G= c.2744G= (p.Ser915=) c.1707G= c.4247G= (p.Ser1416=) c.2807G= (p.Ser936=) c.4160G= (p.Ser1387=) c.2535G= c.4256G= (p.Ser1419=) c.2614G= n.743G= c.3673G= c.2887G= c.2922G= c.2904G= c.2738G= (p.Ser913=) c.799G= c.2161G= (n.2161G=) c.2593G= c.2098G= (n.2098G=) c.2550G= n.753G= c.2504G= (p.Ser835=) c.4352G= (p.Ser1451=) n.564G= n.2688G= n.2223G= c.329G= (p.Ser110=) n.2073G= c.4259G= (p.Ser1420=) n.4640G= | |
19 | g.11041386G>T | CA404073225 | SMARCA4 | c.4346G>T (p.Ser1449Ile) c.4250G>T (p.Ser1417Ile) c.4151G>T (p.Ser1384Ile) c.417G>T c.377G>T (p.Ser126Ile) c.191G>T (p.Ser64Ile) n.2491G>T c.2744G>T (p.Ser915Ile) c.1707G>T c.4247G>T (p.Ser1416Ile) c.2807G>T (p.Ser936Ile) c.4160G>T (p.Ser1387Ile) c.2535G>T c.4256G>T (p.Ser1419Ile) c.2614G>T n.743G>T c.3673G>T c.2887G>T c.2922G>T c.2904G>T c.2738G>T (p.Ser913Ile) c.799G>T c.2161G>T (n.2161G>T) c.2593G>T c.2098G>T (n.2098G>T) c.2550G>T n.753G>T c.2504G>T (p.Ser835Ile) c.4352G>T (p.Ser1451Ile) n.564G>T n.2688G>T n.2223G>T c.329G>T (p.Ser110Ile) n.2073G>T c.4259G>T (p.Ser1420Ile) n.4640G>T | ClinVar dbSNP |
19 | g.11041387C>A | CA404073226 | SMARCA4 | c.4347C>A (p.Ser1449Arg) c.4251C>A (p.Ser1417Arg) c.4152C>A (p.Ser1384Arg) c.418C>A c.378C>A (p.Ser126Arg) c.192C>A (p.Ser64Arg) n.2492C>A c.2745C>A (p.Ser915Arg) c.1708C>A c.4248C>A (p.Ser1416Arg) c.2808C>A (p.Ser936Arg) c.4161C>A (p.Ser1387Arg) c.2536C>A c.4257C>A (p.Ser1419Arg) c.2615C>A n.744C>A c.3674C>A c.2888C>A c.2923C>A c.2905C>A c.2739C>A (p.Ser913Arg) c.800C>A c.2162C>A (n.2162C>A) c.2594C>A c.2099C>A (n.2099C>A) c.2551C>A n.754C>A c.2505C>A (p.Ser835Arg) c.4353C>A (p.Ser1451Arg) n.565C>A n.2689C>A n.2224C>A c.330C>A (p.Ser110Arg) n.2074C>A c.4260C>A (p.Ser1420Arg) n.4641C>A | ClinVar dbSNP |
19 | g.11041387C= | CA2322734842 | SMARCA4 | c.4347C= (p.Ser1449=) c.4251C= (p.Ser1417=) c.4152C= (p.Ser1384=) c.418C= c.378C= (p.Ser126=) c.192C= (p.Ser64=) n.2492C= c.2745C= (p.Ser915=) c.1708C= c.4248C= (p.Ser1416=) c.2808C= (p.Ser936=) c.4161C= (p.Ser1387=) c.2536C= c.4257C= (p.Ser1419=) c.2615C= n.744C= c.3674C= c.2888C= c.2923C= c.2905C= c.2739C= (p.Ser913=) c.800C= c.2162C= (n.2162C=) c.2594C= c.2099C= (n.2099C=) c.2551C= n.754C= c.2505C= (p.Ser835=) c.4353C= (p.Ser1451=) n.565C= n.2689C= n.2224C= c.330C= (p.Ser110=) n.2074C= c.4260C= (p.Ser1420=) n.4641C= | |
19 | g.11041387C>G | CA404073229 | SMARCA4 | c.4347C>G (p.Ser1449Arg) c.4251C>G (p.Ser1417Arg) c.4152C>G (p.Ser1384Arg) c.418C>G c.378C>G (p.Ser126Arg) c.192C>G (p.Ser64Arg) n.2492C>G c.2745C>G (p.Ser915Arg) c.1708C>G c.4248C>G (p.Ser1416Arg) c.2808C>G (p.Ser936Arg) c.4161C>G (p.Ser1387Arg) c.2536C>G c.4257C>G (p.Ser1419Arg) c.2615C>G n.744C>G c.3674C>G c.2888C>G c.2923C>G c.2905C>G c.2739C>G (p.Ser913Arg) c.800C>G c.2162C>G (n.2162C>G) c.2594C>G c.2099C>G (n.2099C>G) c.2551C>G n.754C>G c.2505C>G (p.Ser835Arg) c.4353C>G (p.Ser1451Arg) n.565C>G n.2689C>G n.2224C>G c.330C>G (p.Ser110Arg) n.2074C>G c.4260C>G (p.Ser1420Arg) n.4641C>G | dbSNP |
19 | g.11041387C>T | CA9204682 | SMARCA4 | c.4347C>T (p.Ser1449=) c.4251C>T (p.Ser1417=) c.4152C>T (p.Ser1384=) c.418C>T c.378C>T (p.Ser126=) c.192C>T (p.Ser64=) n.2492C>T c.2745C>T (p.Ser915=) c.1708C>T c.4248C>T (p.Ser1416=) c.2808C>T (p.Ser936=) c.4161C>T (p.Ser1387=) c.2536C>T c.4257C>T (p.Ser1419=) c.2615C>T n.744C>T c.3674C>T c.2888C>T c.2923C>T c.2905C>T c.2739C>T (p.Ser913=) c.800C>T c.2162C>T (n.2162C>T) c.2594C>T c.2099C>T (n.2099C>T) c.2551C>T n.754C>T c.2505C>T (p.Ser835=) c.4353C>T (p.Ser1451=) n.565C>T n.2689C>T n.2224C>T c.330C>T (p.Ser110=) n.2074C>T c.4260C>T (p.Ser1420=) n.4641C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11041388G>A | CA9204683 | SMARCA4 | c.4348G>A (p.Asp1450Asn) c.4252G>A (p.Asp1418Asn) c.4153G>A (p.Asp1385Asn) c.419G>A c.379G>A (p.Asp127Asn) c.193G>A (p.Asp65Asn) n.2493G>A c.2746G>A (p.Asp916Asn) c.1709G>A c.4249G>A (p.Asp1417Asn) c.2809G>A (p.Asp937Asn) c.4162G>A (p.Asp1388Asn) c.2537G>A c.4258G>A (p.Asp1420Asn) c.2616G>A n.745G>A c.3675G>A c.2889G>A c.2924G>A c.2906G>A c.2740G>A (p.Asp914Asn) c.801G>A c.2163G>A (n.2163G>A) c.2595G>A c.2100G>A (n.2100G>A) c.2552G>A n.755G>A c.2506G>A (p.Asp836Asn) c.4354G>A (p.Asp1452Asn) n.566G>A n.2690G>A n.2225G>A c.331G>A (p.Asp111Asn) n.2075G>A c.4261G>A (p.Asp1421Asn) n.4642G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
19 | g.11041388G>C | CA404073237 | SMARCA4 | c.4348G>C (p.Asp1450His) c.4252G>C (p.Asp1418His) c.4153G>C (p.Asp1385His) c.419G>C c.379G>C (p.Asp127His) c.193G>C (p.Asp65His) n.2493G>C c.2746G>C (p.Asp916His) c.1709G>C c.4249G>C (p.Asp1417His) c.2809G>C (p.Asp937His) c.4162G>C (p.Asp1388His) c.2537G>C c.4258G>C (p.Asp1420His) c.2616G>C n.745G>C c.3675G>C c.2889G>C c.2924G>C c.2906G>C c.2740G>C (p.Asp914His) c.801G>C c.2163G>C (n.2163G>C) c.2595G>C c.2100G>C (n.2100G>C) c.2552G>C n.755G>C c.2506G>C (p.Asp836His) c.4354G>C (p.Asp1452His) n.566G>C n.2690G>C n.2225G>C c.331G>C (p.Asp111His) n.2075G>C c.4261G>C (p.Asp1421His) n.4642G>C | dbSNP |
19 | g.11041388G= | CA2322734846 | SMARCA4 | c.4348G= (p.Asp1450=) c.4252G= (p.Asp1418=) c.4153G= (p.Asp1385=) c.419G= c.379G= (p.Asp127=) c.193G= (p.Asp65=) n.2493G= c.2746G= (p.Asp916=) c.1709G= c.4249G= (p.Asp1417=) c.2809G= (p.Asp937=) c.4162G= (p.Asp1388=) c.2537G= c.4258G= (p.Asp1420=) c.2616G= n.745G= c.3675G= c.2889G= c.2924G= c.2906G= c.2740G= (p.Asp914=) c.801G= c.2163G= (n.2163G=) c.2595G= c.2100G= (n.2100G=) c.2552G= n.755G= c.2506G= (p.Asp836=) c.4354G= (p.Asp1452=) n.566G= n.2690G= n.2225G= c.331G= (p.Asp111=) n.2075G= c.4261G= (p.Asp1421=) n.4642G= | |
19 | g.11041388G>T | CA404073242 | SMARCA4 | c.4348G>T (p.Asp1450Tyr) c.4252G>T (p.Asp1418Tyr) c.4153G>T (p.Asp1385Tyr) c.419G>T c.379G>T (p.Asp127Tyr) c.193G>T (p.Asp65Tyr) n.2493G>T c.2746G>T (p.Asp916Tyr) c.1709G>T c.4249G>T (p.Asp1417Tyr) c.2809G>T (p.Asp937Tyr) c.4162G>T (p.Asp1388Tyr) c.2537G>T c.4258G>T (p.Asp1420Tyr) c.2616G>T n.745G>T c.3675G>T c.2889G>T c.2924G>T c.2906G>T c.2740G>T (p.Asp914Tyr) c.801G>T c.2163G>T (n.2163G>T) c.2595G>T c.2100G>T (n.2100G>T) c.2552G>T n.755G>T c.2506G>T (p.Asp836Tyr) c.4354G>T (p.Asp1452Tyr) n.566G>T n.2690G>T n.2225G>T c.331G>T (p.Asp111Tyr) n.2075G>T c.4261G>T (p.Asp1421Tyr) n.4642G>T | ClinVar dbSNP |
19 | g.11041389A= | CA2322734851 | SMARCA4 | c.4349A= (p.Asp1450=) c.4253A= (p.Asp1418=) c.4154A= (p.Asp1385=) c.420A= c.380A= (p.Asp127=) c.194A= (p.Asp65=) n.2494A= c.2747A= (p.Asp916=) c.1710A= c.4250A= (p.Asp1417=) c.2810A= (p.Asp937=) c.4163A= (p.Asp1388=) c.2538A= c.4259A= (p.Asp1420=) c.2617A= n.746A= c.3676A= c.2890A= c.2925A= c.2907A= c.2741A= (p.Asp914=) c.802A= c.2164A= (n.2164A=) c.2596A= c.2101A= (n.2101A=) c.2553A= n.756A= c.2507A= (p.Asp836=) c.4355A= (p.Asp1452=) n.567A= n.2691A= n.2226A= c.332A= (p.Asp111=) n.2076A= c.4262A= (p.Asp1421=) n.4643A= | |
19 | g.11041389A>C | CA404073249 | SMARCA4 | c.4349A>C (p.Asp1450Ala) c.4253A>C (p.Asp1418Ala) c.4154A>C (p.Asp1385Ala) c.420A>C c.380A>C (p.Asp127Ala) c.194A>C (p.Asp65Ala) n.2494A>C c.2747A>C (p.Asp916Ala) c.1710A>C c.4250A>C (p.Asp1417Ala) c.2810A>C (p.Asp937Ala) c.4163A>C (p.Asp1388Ala) c.2538A>C c.4259A>C (p.Asp1420Ala) c.2617A>C n.746A>C c.3676A>C c.2890A>C c.2925A>C c.2907A>C c.2741A>C (p.Asp914Ala) c.802A>C c.2164A>C (n.2164A>C) c.2596A>C c.2101A>C (n.2101A>C) c.2553A>C n.756A>C c.2507A>C (p.Asp836Ala) c.4355A>C (p.Asp1452Ala) n.567A>C n.2691A>C n.2226A>C c.332A>C (p.Asp111Ala) n.2076A>C c.4262A>C (p.Asp1421Ala) n.4643A>C | |
19 | g.11041389A>G | CA404073250 | SMARCA4 | c.4349A>G (p.Asp1450Gly) c.4253A>G (p.Asp1418Gly) c.4154A>G (p.Asp1385Gly) c.420A>G c.380A>G (p.Asp127Gly) c.194A>G (p.Asp65Gly) n.2494A>G c.2747A>G (p.Asp916Gly) c.1710A>G c.4250A>G (p.Asp1417Gly) c.2810A>G (p.Asp937Gly) c.4163A>G (p.Asp1388Gly) c.2538A>G c.4259A>G (p.Asp1420Gly) c.2617A>G n.746A>G c.3676A>G c.2890A>G c.2925A>G c.2907A>G c.2741A>G (p.Asp914Gly) c.802A>G c.2164A>G (n.2164A>G) c.2596A>G c.2101A>G (n.2101A>G) c.2553A>G n.756A>G c.2507A>G (p.Asp836Gly) c.4355A>G (p.Asp1452Gly) n.567A>G n.2691A>G n.2226A>G c.332A>G (p.Asp111Gly) n.2076A>G c.4262A>G (p.Asp1421Gly) n.4643A>G | ClinVar dbSNP |
19 | g.11041389A>T | CA404073248 | SMARCA4 | c.4349A>T (p.Asp1450Val) c.4253A>T (p.Asp1418Val) c.4154A>T (p.Asp1385Val) c.420A>T c.380A>T (p.Asp127Val) c.194A>T (p.Asp65Val) n.2494A>T c.2747A>T (p.Asp916Val) c.1710A>T c.4250A>T (p.Asp1417Val) c.2810A>T (p.Asp937Val) c.4163A>T (p.Asp1388Val) c.2538A>T c.4259A>T (p.Asp1420Val) c.2617A>T n.746A>T c.3676A>T c.2890A>T c.2925A>T c.2907A>T c.2741A>T (p.Asp914Val) c.802A>T c.2164A>T (n.2164A>T) c.2596A>T c.2101A>T (n.2101A>T) c.2553A>T n.756A>T c.2507A>T (p.Asp836Val) c.4355A>T (p.Asp1452Val) n.567A>T n.2691A>T n.2226A>T c.332A>T (p.Asp111Val) n.2076A>T c.4262A>T (p.Asp1421Val) n.4643A>T | dbSNP |
19 | g.11041390C>A | CA404073252 | SMARCA4 | c.4350C>A (p.Asp1450Glu) c.4254C>A (p.Asp1418Glu) c.4155C>A (p.Asp1385Glu) c.421C>A c.381C>A (p.Asp127Glu) c.195C>A (p.Asp65Glu) n.2495C>A c.2748C>A (p.Asp916Glu) c.1711C>A c.4251C>A (p.Asp1417Glu) c.2811C>A (p.Asp937Glu) c.4164C>A (p.Asp1388Glu) c.2539C>A c.4260C>A (p.Asp1420Glu) c.2618C>A n.747C>A c.3677C>A c.2891C>A c.2926C>A c.2908C>A c.2742C>A (p.Asp914Glu) c.803C>A c.2165C>A (n.2165C>A) c.2597C>A c.2102C>A (n.2102C>A) c.2554C>A n.757C>A c.2508C>A (p.Asp836Glu) c.4356C>A (p.Asp1452Glu) n.568C>A n.2692C>A n.2227C>A c.333C>A (p.Asp111Glu) n.2077C>A c.4263C>A (p.Asp1421Glu) n.4644C>A | ClinVar dbSNP |
19 | g.11041390C= | CA2322734855 | SMARCA4 | c.4350C= (p.Asp1450=) c.4254C= (p.Asp1418=) c.4155C= (p.Asp1385=) c.421C= c.381C= (p.Asp127=) c.195C= (p.Asp65=) n.2495C= c.2748C= (p.Asp916=) c.1711C= c.4251C= (p.Asp1417=) c.2811C= (p.Asp937=) c.4164C= (p.Asp1388=) c.2539C= c.4260C= (p.Asp1420=) c.2618C= n.747C= c.3677C= c.2891C= c.2926C= c.2908C= c.2742C= (p.Asp914=) c.803C= c.2165C= (n.2165C=) c.2597C= c.2102C= (n.2102C=) c.2554C= n.757C= c.2508C= (p.Asp836=) c.4356C= (p.Asp1452=) n.568C= n.2692C= n.2227C= c.333C= (p.Asp111=) n.2077C= c.4263C= (p.Asp1421=) n.4644C= | |
19 | g.11041390C>G | CA404073266 | SMARCA4 | c.4350C>G (p.Asp1450Glu) c.4254C>G (p.Asp1418Glu) c.4155C>G (p.Asp1385Glu) c.421C>G c.381C>G (p.Asp127Glu) c.195C>G (p.Asp65Glu) n.2495C>G c.2748C>G (p.Asp916Glu) c.1711C>G c.4251C>G (p.Asp1417Glu) c.2811C>G (p.Asp937Glu) c.4164C>G (p.Asp1388Glu) c.2539C>G c.4260C>G (p.Asp1420Glu) c.2618C>G n.747C>G c.3677C>G c.2891C>G c.2926C>G c.2908C>G c.2742C>G (p.Asp914Glu) c.803C>G c.2165C>G (n.2165C>G) c.2597C>G c.2102C>G (n.2102C>G) c.2554C>G n.757C>G c.2508C>G (p.Asp836Glu) c.4356C>G (p.Asp1452Glu) n.568C>G n.2692C>G n.2227C>G c.333C>G (p.Asp111Glu) n.2077C>G c.4263C>G (p.Asp1421Glu) n.4644C>G | dbSNP |
19 | g.11041390C>T | CA9204684 | SMARCA4 | c.4350C>T (p.Asp1450=) c.4254C>T (p.Asp1418=) c.4155C>T (p.Asp1385=) c.421C>T c.381C>T (p.Asp127=) c.195C>T (p.Asp65=) n.2495C>T c.2748C>T (p.Asp916=) c.1711C>T c.4251C>T (p.Asp1417=) c.2811C>T (p.Asp937=) c.4164C>T (p.Asp1388=) c.2539C>T c.4260C>T (p.Asp1420=) c.2618C>T n.747C>T c.3677C>T c.2891C>T c.2926C>T c.2908C>T c.2742C>T (p.Asp914=) c.803C>T c.2165C>T (n.2165C>T) c.2597C>T c.2102C>T (n.2102C>T) c.2554C>T n.757C>T c.2508C>T (p.Asp836=) c.4356C>T (p.Asp1452=) n.568C>T n.2692C>T n.2227C>T c.333C>T (p.Asp111=) n.2077C>T c.4263C>T (p.Asp1421=) n.4644C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11041391G>A | CA9204685 | SMARCA4 | c.4351G>A (p.Ala1451Thr) c.4255G>A (p.Ala1419Thr) c.4156G>A (p.Ala1386Thr) c.422G>A c.382G>A (p.Ala128Thr) c.196G>A (p.Ala66Thr) n.2496G>A c.2749G>A (p.Ala917Thr) c.1712G>A c.4252G>A (p.Ala1418Thr) c.2812G>A (p.Ala938Thr) c.4165G>A (p.Ala1389Thr) c.2540G>A c.4261G>A (p.Ala1421Thr) c.2619G>A n.748G>A c.3678G>A c.2892G>A c.2927G>A c.2909G>A c.2743G>A (p.Ala915Thr) c.804G>A c.2166G>A (n.2166G>A) c.2598G>A c.2103G>A (n.2103G>A) c.2555G>A n.758G>A c.2509G>A (p.Ala837Thr) c.4357G>A (p.Ala1453Thr) n.569G>A n.2693G>A n.2228G>A c.334G>A (p.Ala112Thr) n.2078G>A c.4264G>A (p.Ala1422Thr) n.4645G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11041391G>C | CA404073273 | SMARCA4 | c.4351G>C (p.Ala1451Pro) c.4255G>C (p.Ala1419Pro) c.4156G>C (p.Ala1386Pro) c.422G>C c.382G>C (p.Ala128Pro) c.196G>C (p.Ala66Pro) n.2496G>C c.2749G>C (p.Ala917Pro) c.1712G>C c.4252G>C (p.Ala1418Pro) c.2812G>C (p.Ala938Pro) c.4165G>C (p.Ala1389Pro) c.2540G>C c.4261G>C (p.Ala1421Pro) c.2619G>C n.748G>C c.3678G>C c.2892G>C c.2927G>C c.2909G>C c.2743G>C (p.Ala915Pro) c.804G>C c.2166G>C (n.2166G>C) c.2598G>C c.2103G>C (n.2103G>C) c.2555G>C n.758G>C c.2509G>C (p.Ala837Pro) c.4357G>C (p.Ala1453Pro) n.569G>C n.2693G>C n.2228G>C c.334G>C (p.Ala112Pro) n.2078G>C c.4264G>C (p.Ala1422Pro) n.4645G>C | |
19 | g.11041391G= | CA2322734864 | SMARCA4 | c.4351G= (p.Ala1451=) c.4255G= (p.Ala1419=) c.4156G= (p.Ala1386=) c.422G= c.382G= (p.Ala128=) c.196G= (p.Ala66=) n.2496G= c.2749G= (p.Ala917=) c.1712G= c.4252G= (p.Ala1418=) c.2812G= (p.Ala938=) c.4165G= (p.Ala1389=) c.2540G= c.4261G= (p.Ala1421=) c.2619G= n.748G= c.3678G= c.2892G= c.2927G= c.2909G= c.2743G= (p.Ala915=) c.804G= c.2166G= (n.2166G=) c.2598G= c.2103G= (n.2103G=) c.2555G= n.758G= c.2509G= (p.Ala837=) c.4357G= (p.Ala1453=) n.569G= n.2693G= n.2228G= c.334G= (p.Ala112=) n.2078G= c.4264G= (p.Ala1422=) n.4645G= | |
19 | g.11041391G>T | CA404073276 | SMARCA4 | c.4351G>T (p.Ala1451Ser) c.4255G>T (p.Ala1419Ser) c.4156G>T (p.Ala1386Ser) c.422G>T c.382G>T (p.Ala128Ser) c.196G>T (p.Ala66Ser) n.2496G>T c.2749G>T (p.Ala917Ser) c.1712G>T c.4252G>T (p.Ala1418Ser) c.2812G>T (p.Ala938Ser) c.4165G>T (p.Ala1389Ser) c.2540G>T c.4261G>T (p.Ala1421Ser) c.2619G>T n.748G>T c.3678G>T c.2892G>T c.2927G>T c.2909G>T c.2743G>T (p.Ala915Ser) c.804G>T c.2166G>T (n.2166G>T) c.2598G>T c.2103G>T (n.2103G>T) c.2555G>T n.758G>T c.2509G>T (p.Ala837Ser) c.4357G>T (p.Ala1453Ser) n.569G>T n.2693G>T n.2228G>T c.334G>T (p.Ala112Ser) n.2078G>T c.4264G>T (p.Ala1422Ser) n.4645G>T | ClinVar |
19 | g.11041392C>A | CA404073283 | SMARCA4 | c.4352C>A (p.Ala1451Asp) c.4256C>A (p.Ala1419Asp) c.4157C>A (p.Ala1386Asp) c.423C>A c.383C>A (p.Ala128Asp) c.197C>A (p.Ala66Asp) n.2497C>A c.2750C>A (p.Ala917Asp) c.1713C>A c.4253C>A (p.Ala1418Asp) c.2813C>A (p.Ala938Asp) c.4166C>A (p.Ala1389Asp) c.2541C>A c.4262C>A (p.Ala1421Asp) c.2620C>A n.749C>A c.3679C>A c.2893C>A c.2928C>A c.2910C>A c.2744C>A (p.Ala915Asp) c.805C>A c.2167C>A (n.2167C>A) c.2599C>A c.2104C>A (n.2104C>A) c.2556C>A n.759C>A c.2510C>A (p.Ala837Asp) c.4358C>A (p.Ala1453Asp) n.570C>A n.2694C>A n.2229C>A c.335C>A (p.Ala112Asp) n.2079C>A c.4265C>A (p.Ala1422Asp) n.4646C>A | |
19 | g.11041392C= | CA2322734867 | SMARCA4 | c.4352C= (p.Ala1451=) c.4256C= (p.Ala1419=) c.4157C= (p.Ala1386=) c.423C= c.383C= (p.Ala128=) c.197C= (p.Ala66=) n.2497C= c.2750C= (p.Ala917=) c.1713C= c.4253C= (p.Ala1418=) c.2813C= (p.Ala938=) c.4166C= (p.Ala1389=) c.2541C= c.4262C= (p.Ala1421=) c.2620C= n.749C= c.3679C= c.2893C= c.2928C= c.2910C= c.2744C= (p.Ala915=) c.805C= c.2167C= (n.2167C=) c.2599C= c.2104C= (n.2104C=) c.2556C= n.759C= c.2510C= (p.Ala837=) c.4358C= (p.Ala1453=) n.570C= n.2694C= n.2229C= c.335C= (p.Ala112=) n.2079C= c.4265C= (p.Ala1422=) n.4646C= | |
19 | g.11041392C>G | CA404073286 | SMARCA4 | c.4352C>G (p.Ala1451Gly) c.4256C>G (p.Ala1419Gly) c.4157C>G (p.Ala1386Gly) c.423C>G c.383C>G (p.Ala128Gly) c.197C>G (p.Ala66Gly) n.2497C>G c.2750C>G (p.Ala917Gly) c.1713C>G c.4253C>G (p.Ala1418Gly) c.2813C>G (p.Ala938Gly) c.4166C>G (p.Ala1389Gly) c.2541C>G c.4262C>G (p.Ala1421Gly) c.2620C>G n.749C>G c.3679C>G c.2893C>G c.2928C>G c.2910C>G c.2744C>G (p.Ala915Gly) c.805C>G c.2167C>G (n.2167C>G) c.2599C>G c.2104C>G (n.2104C>G) c.2556C>G n.759C>G c.2510C>G (p.Ala837Gly) c.4358C>G (p.Ala1453Gly) n.570C>G n.2694C>G n.2229C>G c.335C>G (p.Ala112Gly) n.2079C>G c.4265C>G (p.Ala1422Gly) n.4646C>G | |
19 | g.11041392C>T | CA404073291 | SMARCA4 | c.4352C>T (p.Ala1451Val) c.4256C>T (p.Ala1419Val) c.4157C>T (p.Ala1386Val) c.423C>T c.383C>T (p.Ala128Val) c.197C>T (p.Ala66Val) n.2497C>T c.2750C>T (p.Ala917Val) c.1713C>T c.4253C>T (p.Ala1418Val) c.2813C>T (p.Ala938Val) c.4166C>T (p.Ala1389Val) c.2541C>T c.4262C>T (p.Ala1421Val) c.2620C>T n.749C>T c.3679C>T c.2893C>T c.2928C>T c.2910C>T c.2744C>T (p.Ala915Val) c.805C>T c.2167C>T (n.2167C>T) c.2599C>T c.2104C>T (n.2104C>T) c.2556C>T n.759C>T c.2510C>T (p.Ala837Val) c.4358C>T (p.Ala1453Val) n.570C>T n.2694C>T n.2229C>T c.335C>T (p.Ala112Val) n.2079C>T c.4265C>T (p.Ala1422Val) n.4646C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.11041393C>A | CA505743827 | SMARCA4 | c.4353C>A (p.Ala1451=) c.4257C>A (p.Ala1419=) c.4158C>A (p.Ala1386=) c.424C>A c.384C>A (p.Ala128=) c.198C>A (p.Ala66=) n.2498C>A c.2751C>A (p.Ala917=) c.1714C>A c.4254C>A (p.Ala1418=) c.2814C>A (p.Ala938=) c.4167C>A (p.Ala1389=) c.2542C>A c.4263C>A (p.Ala1421=) c.2621C>A n.750C>A c.3680C>A c.2894C>A c.2929C>A c.2911C>A c.2745C>A (p.Ala915=) c.806C>A c.2168C>A (n.2168C>A) c.2600C>A c.2105C>A (n.2105C>A) c.2557C>A n.760C>A c.2511C>A (p.Ala837=) c.4359C>A (p.Ala1453=) n.571C>A n.2695C>A n.2230C>A c.336C>A (p.Ala112=) n.2080C>A c.4266C>A (p.Ala1422=) n.4647C>A | |
19 | g.11041393C= | CA2322734872 | SMARCA4 | c.4353C= (p.Ala1451=) c.4257C= (p.Ala1419=) c.4158C= (p.Ala1386=) c.424C= c.384C= (p.Ala128=) c.198C= (p.Ala66=) n.2498C= c.2751C= (p.Ala917=) c.1714C= c.4254C= (p.Ala1418=) c.2814C= (p.Ala938=) c.4167C= (p.Ala1389=) c.2542C= c.4263C= (p.Ala1421=) c.2621C= n.750C= c.3680C= c.2894C= c.2929C= c.2911C= c.2745C= (p.Ala915=) c.806C= c.2168C= (n.2168C=) c.2600C= c.2105C= (n.2105C=) c.2557C= n.760C= c.2511C= (p.Ala837=) c.4359C= (p.Ala1453=) n.571C= n.2695C= n.2230C= c.336C= (p.Ala112=) n.2080C= c.4266C= (p.Ala1422=) n.4647C= | |
19 | g.11041393C>G | CA505743828 | SMARCA4 | c.4353C>G (p.Ala1451=) c.4257C>G (p.Ala1419=) c.4158C>G (p.Ala1386=) c.424C>G c.384C>G (p.Ala128=) c.198C>G (p.Ala66=) n.2498C>G c.2751C>G (p.Ala917=) c.1714C>G c.4254C>G (p.Ala1418=) c.2814C>G (p.Ala938=) c.4167C>G (p.Ala1389=) c.2542C>G c.4263C>G (p.Ala1421=) c.2621C>G n.750C>G c.3680C>G c.2894C>G c.2929C>G c.2911C>G c.2745C>G (p.Ala915=) c.806C>G c.2168C>G (n.2168C>G) c.2600C>G c.2105C>G (n.2105C>G) c.2557C>G n.760C>G c.2511C>G (p.Ala837=) c.4359C>G (p.Ala1453=) n.571C>G n.2695C>G n.2230C>G c.336C>G (p.Ala112=) n.2080C>G c.4266C>G (p.Ala1422=) n.4647C>G | dbSNP |
19 | g.11041393C>T | CA9204686 | SMARCA4 | c.4353C>T (p.Ala1451=) c.4257C>T (p.Ala1419=) c.4158C>T (p.Ala1386=) c.424C>T c.384C>T (p.Ala128=) c.198C>T (p.Ala66=) n.2498C>T c.2751C>T (p.Ala917=) c.1714C>T c.4254C>T (p.Ala1418=) c.2814C>T (p.Ala938=) c.4167C>T (p.Ala1389=) c.2542C>T c.4263C>T (p.Ala1421=) c.2621C>T n.750C>T c.3680C>T c.2894C>T c.2929C>T c.2911C>T c.2745C>T (p.Ala915=) c.806C>T c.2168C>T (n.2168C>T) c.2600C>T c.2105C>T (n.2105C>T) c.2557C>T n.760C>T c.2511C>T (p.Ala837=) c.4359C>T (p.Ala1453=) n.571C>T n.2695C>T n.2230C>T c.336C>T (p.Ala112=) n.2080C>T c.4266C>T (p.Ala1422=) n.4647C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11041394G>A | CA9204687 | SMARCA4 | c.4354G>A (p.Gly1452Ser) c.4258G>A (p.Gly1420Ser) c.4159G>A (p.Gly1387Ser) c.425G>A c.385G>A (p.Gly129Ser) c.199G>A (p.Gly67Ser) n.2499G>A c.2752G>A (p.Gly918Ser) c.1715G>A c.4255G>A (p.Gly1419Ser) c.2815G>A (p.Gly939Ser) c.4168G>A (p.Gly1390Ser) c.2543G>A c.4264G>A (p.Gly1422Ser) c.2622G>A n.751G>A c.3681G>A c.2895G>A c.2930G>A c.2912G>A c.2746G>A (p.Gly916Ser) c.807G>A c.2169G>A (n.2169G>A) c.2601G>A c.2106G>A (n.2106G>A) c.2558G>A n.761G>A c.2512G>A (p.Gly838Ser) c.4360G>A (p.Gly1454Ser) n.572G>A n.2696G>A n.2231G>A c.337G>A (p.Gly113Ser) n.2081G>A c.4267G>A (p.Gly1423Ser) n.4648G>A | ClinVar dbSNP ExAC gnomAD v4 |
19 | g.11041394G>C | CA404073302 | SMARCA4 | c.4354G>C (p.Gly1452Arg) c.4258G>C (p.Gly1420Arg) c.4159G>C (p.Gly1387Arg) c.425G>C c.385G>C (p.Gly129Arg) c.199G>C (p.Gly67Arg) n.2499G>C c.2752G>C (p.Gly918Arg) c.1715G>C c.4255G>C (p.Gly1419Arg) c.2815G>C (p.Gly939Arg) c.4168G>C (p.Gly1390Arg) c.2543G>C c.4264G>C (p.Gly1422Arg) c.2622G>C n.751G>C c.3681G>C c.2895G>C c.2930G>C c.2912G>C c.2746G>C (p.Gly916Arg) c.807G>C c.2169G>C (n.2169G>C) c.2601G>C c.2106G>C (n.2106G>C) c.2558G>C n.761G>C c.2512G>C (p.Gly838Arg) c.4360G>C (p.Gly1454Arg) n.572G>C n.2696G>C n.2231G>C c.337G>C (p.Gly113Arg) n.2081G>C c.4267G>C (p.Gly1423Arg) n.4648G>C | dbSNP |
19 | g.11041394G= | CA2322734880 | SMARCA4 | c.4354G= (p.Gly1452=) c.4258G= (p.Gly1420=) c.4159G= (p.Gly1387=) c.425G= c.385G= (p.Gly129=) c.199G= (p.Gly67=) n.2499G= c.2752G= (p.Gly918=) c.1715G= c.4255G= (p.Gly1419=) c.2815G= (p.Gly939=) c.4168G= (p.Gly1390=) c.2543G= c.4264G= (p.Gly1422=) c.2622G= n.751G= c.3681G= c.2895G= c.2930G= c.2912G= c.2746G= (p.Gly916=) c.807G= c.2169G= (n.2169G=) c.2601G= c.2106G= (n.2106G=) c.2558G= n.761G= c.2512G= (p.Gly838=) c.4360G= (p.Gly1454=) n.572G= n.2696G= n.2231G= c.337G= (p.Gly113=) n.2081G= c.4267G= (p.Gly1423=) n.4648G= | |
19 | g.11041394G>T | CA404073305 | SMARCA4 | c.4354G>T (p.Gly1452Cys) c.4258G>T (p.Gly1420Cys) c.4159G>T (p.Gly1387Cys) c.425G>T c.385G>T (p.Gly129Cys) c.199G>T (p.Gly67Cys) n.2499G>T c.2752G>T (p.Gly918Cys) c.1715G>T c.4255G>T (p.Gly1419Cys) c.2815G>T (p.Gly939Cys) c.4168G>T (p.Gly1390Cys) c.2543G>T c.4264G>T (p.Gly1422Cys) c.2622G>T n.751G>T c.3681G>T c.2895G>T c.2930G>T c.2912G>T c.2746G>T (p.Gly916Cys) c.807G>T c.2169G>T (n.2169G>T) c.2601G>T c.2106G>T (n.2106G>T) c.2558G>T n.761G>T c.2512G>T (p.Gly838Cys) c.4360G>T (p.Gly1454Cys) n.572G>T n.2696G>T n.2231G>T c.337G>T (p.Gly113Cys) n.2081G>T c.4267G>T (p.Gly1423Cys) n.4648G>T | |
19 | g.11041395G>A | CA404073312 | SMARCA4 | c.4355G>A (p.Gly1452Asp) c.4259G>A (p.Gly1420Asp) c.4160G>A (p.Gly1387Asp) c.426G>A c.386G>A (p.Gly129Asp) c.200G>A (p.Gly67Asp) n.2500G>A c.2753G>A (p.Gly918Asp) c.1716G>A c.4256G>A (p.Gly1419Asp) c.2816G>A (p.Gly939Asp) c.4169G>A (p.Gly1390Asp) c.2544G>A c.4265G>A (p.Gly1422Asp) c.2623G>A n.752G>A c.3682G>A c.2896G>A c.2931G>A c.2913G>A c.2747G>A (p.Gly916Asp) c.808G>A c.2170G>A (n.2170G>A) c.2602G>A c.2107G>A (n.2107G>A) c.2559G>A n.762G>A c.2513G>A (p.Gly838Asp) c.4361G>A (p.Gly1454Asp) n.573G>A n.2697G>A n.2232G>A c.338G>A (p.Gly113Asp) n.2082G>A c.4268G>A (p.Gly1423Asp) n.4649G>A | ClinVar dbSNP |
19 | g.11041395G>C | CA404073316 | SMARCA4 | c.4355G>C (p.Gly1452Ala) c.4259G>C (p.Gly1420Ala) c.4160G>C (p.Gly1387Ala) c.426G>C c.386G>C (p.Gly129Ala) c.200G>C (p.Gly67Ala) n.2500G>C c.2753G>C (p.Gly918Ala) c.1716G>C c.4256G>C (p.Gly1419Ala) c.2816G>C (p.Gly939Ala) c.4169G>C (p.Gly1390Ala) c.2544G>C c.4265G>C (p.Gly1422Ala) c.2623G>C n.752G>C c.3682G>C c.2896G>C c.2931G>C c.2913G>C c.2747G>C (p.Gly916Ala) c.808G>C c.2170G>C (n.2170G>C) c.2602G>C c.2107G>C (n.2107G>C) c.2559G>C n.762G>C c.2513G>C (p.Gly838Ala) c.4361G>C (p.Gly1454Ala) n.573G>C n.2697G>C n.2232G>C c.338G>C (p.Gly113Ala) n.2082G>C c.4268G>C (p.Gly1423Ala) n.4649G>C | ClinVar dbSNP |
19 | g.11041395G= | CA2322734884 | SMARCA4 | c.4355G= (p.Gly1452=) c.4259G= (p.Gly1420=) c.4160G= (p.Gly1387=) c.426G= c.386G= (p.Gly129=) c.200G= (p.Gly67=) n.2500G= c.2753G= (p.Gly918=) c.1716G= c.4256G= (p.Gly1419=) c.2816G= (p.Gly939=) c.4169G= (p.Gly1390=) c.2544G= c.4265G= (p.Gly1422=) c.2623G= n.752G= c.3682G= c.2896G= c.2931G= c.2913G= c.2747G= (p.Gly916=) c.808G= c.2170G= (n.2170G=) c.2602G= c.2107G= (n.2107G=) c.2559G= n.762G= c.2513G= (p.Gly838=) c.4361G= (p.Gly1454=) n.573G= n.2697G= n.2232G= c.338G= (p.Gly113=) n.2082G= c.4268G= (p.Gly1423=) n.4649G= | |
19 | g.11041395G>T | CA404073318 | SMARCA4 | c.4355G>T (p.Gly1452Val) c.4259G>T (p.Gly1420Val) c.4160G>T (p.Gly1387Val) c.426G>T c.386G>T (p.Gly129Val) c.200G>T (p.Gly67Val) n.2500G>T c.2753G>T (p.Gly918Val) c.1716G>T c.4256G>T (p.Gly1419Val) c.2816G>T (p.Gly939Val) c.4169G>T (p.Gly1390Val) c.2544G>T c.4265G>T (p.Gly1422Val) c.2623G>T n.752G>T c.3682G>T c.2896G>T c.2931G>T c.2913G>T c.2747G>T (p.Gly916Val) c.808G>T c.2170G>T (n.2170G>T) c.2602G>T c.2107G>T (n.2107G>T) c.2559G>T n.762G>T c.2513G>T (p.Gly838Val) c.4361G>T (p.Gly1454Val) n.573G>T n.2697G>T n.2232G>T c.338G>T (p.Gly113Val) n.2082G>T c.4268G>T (p.Gly1423Val) n.4649G>T | ClinVar dbSNP |
19 | g.11041396C>A | CA505743830 | SMARCA4 | c.4356C>A (p.Gly1452=) c.4260C>A (p.Gly1420=) c.4161C>A (p.Gly1387=) c.427C>A c.387C>A (p.Gly129=) c.201C>A (p.Gly67=) n.2501C>A c.2754C>A (p.Gly918=) c.1717C>A c.4257C>A (p.Gly1419=) c.2817C>A (p.Gly939=) c.4170C>A (p.Gly1390=) c.2545C>A c.4266C>A (p.Gly1422=) c.2624C>A n.753C>A c.3683C>A c.2897C>A c.2932C>A c.2914C>A c.2748C>A (p.Gly916=) c.809C>A c.2171C>A (n.2171C>A) c.2603C>A c.2108C>A (n.2108C>A) c.2560C>A n.763C>A c.2514C>A (p.Gly838=) c.4362C>A (p.Gly1454=) n.574C>A n.2698C>A n.2233C>A c.339C>A (p.Gly113=) n.2083C>A c.4269C>A (p.Gly1423=) n.4650C>A | dbSNP |
19 | g.11041396C= | CA2322734885 | SMARCA4 | c.4356C= (p.Gly1452=) c.4260C= (p.Gly1420=) c.4161C= (p.Gly1387=) c.427C= c.387C= (p.Gly129=) c.201C= (p.Gly67=) n.2501C= c.2754C= (p.Gly918=) c.1717C= c.4257C= (p.Gly1419=) c.2817C= (p.Gly939=) c.4170C= (p.Gly1390=) c.2545C= c.4266C= (p.Gly1422=) c.2624C= n.753C= c.3683C= c.2897C= c.2932C= c.2914C= c.2748C= (p.Gly916=) c.809C= c.2171C= (n.2171C=) c.2603C= c.2108C= (n.2108C=) c.2560C= n.763C= c.2514C= (p.Gly838=) c.4362C= (p.Gly1454=) n.574C= n.2698C= n.2233C= c.339C= (p.Gly113=) n.2083C= c.4269C= (p.Gly1423=) n.4650C= | |
19 | g.11041396C>G | CA505743829 | SMARCA4 | c.4356C>G (p.Gly1452=) c.4260C>G (p.Gly1420=) c.4161C>G (p.Gly1387=) c.427C>G c.387C>G (p.Gly129=) c.201C>G (p.Gly67=) n.2501C>G c.2754C>G (p.Gly918=) c.1717C>G c.4257C>G (p.Gly1419=) c.2817C>G (p.Gly939=) c.4170C>G (p.Gly1390=) c.2545C>G c.4266C>G (p.Gly1422=) c.2624C>G n.753C>G c.3683C>G c.2897C>G c.2932C>G c.2914C>G c.2748C>G (p.Gly916=) c.809C>G c.2171C>G (n.2171C>G) c.2603C>G c.2108C>G (n.2108C>G) c.2560C>G n.763C>G c.2514C>G (p.Gly838=) c.4362C>G (p.Gly1454=) n.574C>G n.2698C>G n.2233C>G c.339C>G (p.Gly113=) n.2083C>G c.4269C>G (p.Gly1423=) n.4650C>G | dbSNP |
19 | g.11041396C>T | CA305294352 | SMARCA4 | c.4356C>T (p.Gly1452=) c.4260C>T (p.Gly1420=) c.4161C>T (p.Gly1387=) c.427C>T c.387C>T (p.Gly129=) c.201C>T (p.Gly67=) n.2501C>T c.2754C>T (p.Gly918=) c.1717C>T c.4257C>T (p.Gly1419=) c.2817C>T (p.Gly939=) c.4170C>T (p.Gly1390=) c.2545C>T c.4266C>T (p.Gly1422=) c.2624C>T n.753C>T c.3683C>T c.2897C>T c.2932C>T c.2914C>T c.2748C>T (p.Gly916=) c.809C>T c.2171C>T (n.2171C>T) c.2603C>T c.2108C>T (n.2108C>T) c.2560C>T n.763C>T c.2514C>T (p.Gly838=) c.4362C>T (p.Gly1454=) n.574C>T n.2698C>T n.2233C>T c.339C>T (p.Gly113=) n.2083C>T c.4269C>T (p.Gly1423=) n.4650C>T | ClinVar dbSNP gnomAD v4 |
19 | g.11041397T>A | CA404073334 | SMARCA4 | c.4357T>A (p.Ser1453Thr) c.4261T>A (p.Ser1421Thr) c.4162T>A (p.Ser1388Thr) c.428T>A c.388T>A (p.Ser130Thr) c.202T>A (p.Ser68Thr) n.2502T>A c.2755T>A (p.Ser919Thr) c.1718T>A c.4258T>A (p.Ser1420Thr) c.2818T>A (p.Ser940Thr) c.4171T>A (p.Ser1391Thr) c.2546T>A c.4267T>A (p.Ser1423Thr) c.2625T>A n.754T>A c.3684T>A c.2898T>A c.2933T>A c.2915T>A c.2749T>A (p.Ser917Thr) c.810T>A c.2172T>A (n.2172T>A) c.2604T>A c.2109T>A (n.2109T>A) c.2561T>A n.764T>A c.2515T>A (p.Ser839Thr) c.4363T>A (p.Ser1455Thr) n.575T>A n.2699T>A n.2234T>A c.340T>A (p.Ser114Thr) n.2084T>A c.4270T>A (p.Ser1424Thr) n.4651T>A | dbSNP |
19 | g.11041397T>C | CA404073337 | SMARCA4 | c.4357T>C (p.Ser1453Pro) c.4261T>C (p.Ser1421Pro) c.4162T>C (p.Ser1388Pro) c.428T>C c.388T>C (p.Ser130Pro) c.202T>C (p.Ser68Pro) n.2502T>C c.2755T>C (p.Ser919Pro) c.1718T>C c.4258T>C (p.Ser1420Pro) c.2818T>C (p.Ser940Pro) c.4171T>C (p.Ser1391Pro) c.2546T>C c.4267T>C (p.Ser1423Pro) c.2625T>C n.754T>C c.3684T>C c.2898T>C c.2933T>C c.2915T>C c.2749T>C (p.Ser917Pro) c.810T>C c.2172T>C (n.2172T>C) c.2604T>C c.2109T>C (n.2109T>C) c.2561T>C n.764T>C c.2515T>C (p.Ser839Pro) c.4363T>C (p.Ser1455Pro) n.575T>C n.2699T>C n.2234T>C c.340T>C (p.Ser114Pro) n.2084T>C c.4270T>C (p.Ser1424Pro) n.4651T>C | ClinVar dbSNP |
19 | g.11041397T>G | CA404073341 | SMARCA4 | c.4357T>G (p.Ser1453Ala) c.4261T>G (p.Ser1421Ala) c.4162T>G (p.Ser1388Ala) c.428T>G c.388T>G (p.Ser130Ala) c.202T>G (p.Ser68Ala) n.2502T>G c.2755T>G (p.Ser919Ala) c.1718T>G c.4258T>G (p.Ser1420Ala) c.2818T>G (p.Ser940Ala) c.4171T>G (p.Ser1391Ala) c.2546T>G c.4267T>G (p.Ser1423Ala) c.2625T>G n.754T>G c.3684T>G c.2898T>G c.2933T>G c.2915T>G c.2749T>G (p.Ser917Ala) c.810T>G c.2172T>G (n.2172T>G) c.2604T>G c.2109T>G (n.2109T>G) c.2561T>G n.764T>G c.2515T>G (p.Ser839Ala) c.4363T>G (p.Ser1455Ala) n.575T>G n.2699T>G n.2234T>G c.340T>G (p.Ser114Ala) n.2084T>G c.4270T>G (p.Ser1424Ala) n.4651T>G | |
19 | g.11041398C>A | CA404073345 | SMARCA4 | c.4358C>A (p.Ser1453Tyr) c.4262C>A (p.Ser1421Tyr) c.4163C>A (p.Ser1388Tyr) c.429C>A c.389C>A (p.Ser130Tyr) c.203C>A (p.Ser68Tyr) n.2503C>A c.2756C>A (p.Ser919Tyr) c.1719C>A c.4259C>A (p.Ser1420Tyr) c.2819C>A (p.Ser940Tyr) c.4172C>A (p.Ser1391Tyr) c.2547C>A c.4268C>A (p.Ser1423Tyr) c.2626C>A n.755C>A c.3685C>A c.2899C>A c.2934C>A c.2916C>A c.2750C>A (p.Ser917Tyr) c.811C>A c.2173C>A (n.2173C>A) c.2605C>A c.2110C>A (n.2110C>A) c.2562C>A n.765C>A c.2516C>A (p.Ser839Tyr) c.4364C>A (p.Ser1455Tyr) n.576C>A n.2700C>A n.2235C>A c.341C>A (p.Ser114Tyr) n.2085C>A c.4271C>A (p.Ser1424Tyr) n.4652C>A | gnomAD v4 |
19 | g.11041398C= | CA2322734887 | SMARCA4 | c.4358C= (p.Ser1453=) c.4262C= (p.Ser1421=) c.4163C= (p.Ser1388=) c.429C= c.389C= (p.Ser130=) c.203C= (p.Ser68=) n.2503C= c.2756C= (p.Ser919=) c.1719C= c.4259C= (p.Ser1420=) c.2819C= (p.Ser940=) c.4172C= (p.Ser1391=) c.2547C= c.4268C= (p.Ser1423=) c.2626C= n.755C= c.3685C= c.2899C= c.2934C= c.2916C= c.2750C= (p.Ser917=) c.811C= c.2173C= (n.2173C=) c.2605C= c.2110C= (n.2110C=) c.2562C= n.765C= c.2516C= (p.Ser839=) c.4364C= (p.Ser1455=) n.576C= n.2700C= n.2235C= c.341C= (p.Ser114=) n.2085C= c.4271C= (p.Ser1424=) n.4652C= | |
19 | g.11041398C>G | CA404073364 | SMARCA4 | c.4358C>G (p.Ser1453Cys) c.4262C>G (p.Ser1421Cys) c.4163C>G (p.Ser1388Cys) c.429C>G c.389C>G (p.Ser130Cys) c.203C>G (p.Ser68Cys) n.2503C>G c.2756C>G (p.Ser919Cys) c.1719C>G c.4259C>G (p.Ser1420Cys) c.2819C>G (p.Ser940Cys) c.4172C>G (p.Ser1391Cys) c.2547C>G c.4268C>G (p.Ser1423Cys) c.2626C>G n.755C>G c.3685C>G c.2899C>G c.2934C>G c.2916C>G c.2750C>G (p.Ser917Cys) c.811C>G c.2173C>G (n.2173C>G) c.2605C>G c.2110C>G (n.2110C>G) c.2562C>G n.765C>G c.2516C>G (p.Ser839Cys) c.4364C>G (p.Ser1455Cys) n.576C>G n.2700C>G n.2235C>G c.341C>G (p.Ser114Cys) n.2085C>G c.4271C>G (p.Ser1424Cys) n.4652C>G | dbSNP |
19 | g.11041398C>T | CA9204688 | SMARCA4 | c.4358C>T (p.Ser1453Phe) c.4262C>T (p.Ser1421Phe) c.4163C>T (p.Ser1388Phe) c.429C>T c.389C>T (p.Ser130Phe) c.203C>T (p.Ser68Phe) n.2503C>T c.2756C>T (p.Ser919Phe) c.1719C>T c.4259C>T (p.Ser1420Phe) c.2819C>T (p.Ser940Phe) c.4172C>T (p.Ser1391Phe) c.2547C>T c.4268C>T (p.Ser1423Phe) c.2626C>T n.755C>T c.3685C>T c.2899C>T c.2934C>T c.2916C>T c.2750C>T (p.Ser917Phe) c.811C>T c.2173C>T (n.2173C>T) c.2605C>T c.2110C>T (n.2110C>T) c.2562C>T n.765C>T c.2516C>T (p.Ser839Phe) c.4364C>T (p.Ser1455Phe) n.576C>T n.2700C>T n.2235C>T c.341C>T (p.Ser114Phe) n.2085C>T c.4271C>T (p.Ser1424Phe) n.4652C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11041399C>A | CA505743831 | SMARCA4 | c.4359C>A (p.Ser1453=) c.4263C>A (p.Ser1421=) c.4164C>A (p.Ser1388=) c.430C>A c.390C>A (p.Ser130=) c.204C>A (p.Ser68=) n.2504C>A c.2757C>A (p.Ser919=) c.1720C>A c.4260C>A (p.Ser1420=) c.2820C>A (p.Ser940=) c.4173C>A (p.Ser1391=) c.2548C>A c.4269C>A (p.Ser1423=) c.2627C>A n.756C>A c.3686C>A c.2900C>A c.2935C>A c.2917C>A c.2751C>A (p.Ser917=) c.812C>A c.2174C>A (n.2174C>A) c.2606C>A c.2111C>A (n.2111C>A) c.2563C>A n.766C>A c.2517C>A (p.Ser839=) c.4365C>A (p.Ser1455=) n.577C>A n.2701C>A n.2236C>A c.342C>A (p.Ser114=) n.2086C>A c.4272C>A (p.Ser1424=) n.4653C>A | |
19 | g.11041399C>G | CA505743832 | SMARCA4 | c.4359C>G (p.Ser1453=) c.4263C>G (p.Ser1421=) c.4164C>G (p.Ser1388=) c.430C>G c.390C>G (p.Ser130=) c.204C>G (p.Ser68=) n.2504C>G c.2757C>G (p.Ser919=) c.1720C>G c.4260C>G (p.Ser1420=) c.2820C>G (p.Ser940=) c.4173C>G (p.Ser1391=) c.2548C>G c.4269C>G (p.Ser1423=) c.2627C>G n.756C>G c.3686C>G c.2900C>G c.2935C>G c.2917C>G c.2751C>G (p.Ser917=) c.812C>G c.2174C>G (n.2174C>G) c.2606C>G c.2111C>G (n.2111C>G) c.2563C>G n.766C>G c.2517C>G (p.Ser839=) c.4365C>G (p.Ser1455=) n.577C>G n.2701C>G n.2236C>G c.342C>G (p.Ser114=) n.2086C>G c.4272C>G (p.Ser1424=) n.4653C>G | |
19 | g.11041399C>T | CA505743833 | SMARCA4 | c.4359C>T (p.Ser1453=) c.4263C>T (p.Ser1421=) c.4164C>T (p.Ser1388=) c.430C>T c.390C>T (p.Ser130=) c.204C>T (p.Ser68=) n.2504C>T c.2757C>T (p.Ser919=) c.1720C>T c.4260C>T (p.Ser1420=) c.2820C>T (p.Ser940=) c.4173C>T (p.Ser1391=) c.2548C>T c.4269C>T (p.Ser1423=) c.2627C>T n.756C>T c.3686C>T c.2900C>T c.2935C>T c.2917C>T c.2751C>T (p.Ser917=) c.812C>T c.2174C>T (n.2174C>T) c.2606C>T c.2111C>T (n.2111C>T) c.2563C>T n.766C>T c.2517C>T (p.Ser839=) c.4365C>T (p.Ser1455=) n.577C>T n.2701C>T n.2236C>T c.342C>T (p.Ser114=) n.2086C>T c.4272C>T (p.Ser1424=) n.4653C>T | ClinVar dbSNP |
19 | g.11041400T>A | CA404073370 | SMARCA4 | c.4360T>A (p.Ser1454Thr) c.4264T>A (p.Ser1422Thr) c.4165T>A (p.Ser1389Thr) c.431T>A c.391T>A (p.Ser131Thr) c.205T>A (p.Ser69Thr) n.2505T>A c.2758T>A (p.Ser920Thr) c.1721T>A c.4261T>A (p.Ser1421Thr) c.2821T>A (p.Ser941Thr) c.4174T>A (p.Ser1392Thr) c.2549T>A c.4270T>A (p.Ser1424Thr) c.2628T>A n.757T>A c.3687T>A c.2901T>A c.2936T>A c.2918T>A c.2752T>A (p.Ser918Thr) c.813T>A c.2175T>A (n.2175T>A) c.2607T>A c.2112T>A (n.2112T>A) c.2564T>A n.767T>A c.2518T>A (p.Ser840Thr) c.4366T>A (p.Ser1456Thr) n.578T>A n.2702T>A n.2237T>A c.343T>A (p.Ser115Thr) n.2087T>A c.4273T>A (p.Ser1425Thr) n.4654T>A | |
19 | g.11041400T>C | CA404073374 | SMARCA4 | c.4360T>C (p.Ser1454Pro) c.4264T>C (p.Ser1422Pro) c.4165T>C (p.Ser1389Pro) c.431T>C c.391T>C (p.Ser131Pro) c.205T>C (p.Ser69Pro) n.2505T>C c.2758T>C (p.Ser920Pro) c.1721T>C c.4261T>C (p.Ser1421Pro) c.2821T>C (p.Ser941Pro) c.4174T>C (p.Ser1392Pro) c.2549T>C c.4270T>C (p.Ser1424Pro) c.2628T>C n.757T>C c.3687T>C c.2901T>C c.2936T>C c.2918T>C c.2752T>C (p.Ser918Pro) c.813T>C c.2175T>C (n.2175T>C) c.2607T>C c.2112T>C (n.2112T>C) c.2564T>C n.767T>C c.2518T>C (p.Ser840Pro) c.4366T>C (p.Ser1456Pro) n.578T>C n.2702T>C n.2237T>C c.343T>C (p.Ser115Pro) n.2087T>C c.4273T>C (p.Ser1425Pro) n.4654T>C | |
19 | g.11041400T>G | CA404073378 | SMARCA4 | c.4360T>G (p.Ser1454Ala) c.4264T>G (p.Ser1422Ala) c.4165T>G (p.Ser1389Ala) c.431T>G c.391T>G (p.Ser131Ala) c.205T>G (p.Ser69Ala) n.2505T>G c.2758T>G (p.Ser920Ala) c.1721T>G c.4261T>G (p.Ser1421Ala) c.2821T>G (p.Ser941Ala) c.4174T>G (p.Ser1392Ala) c.2549T>G c.4270T>G (p.Ser1424Ala) c.2628T>G n.757T>G c.3687T>G c.2901T>G c.2936T>G c.2918T>G c.2752T>G (p.Ser918Ala) c.813T>G c.2175T>G (n.2175T>G) c.2607T>G c.2112T>G (n.2112T>G) c.2564T>G n.767T>G c.2518T>G (p.Ser840Ala) c.4366T>G (p.Ser1456Ala) n.578T>G n.2702T>G n.2237T>G c.343T>G (p.Ser115Ala) n.2087T>G c.4273T>G (p.Ser1425Ala) n.4654T>G | |
19 | g.11041401C>A | CA404073383 | SMARCA4 | c.4361C>A (p.Ser1454Tyr) c.4265C>A (p.Ser1422Tyr) c.4166C>A (p.Ser1389Tyr) c.432C>A c.392C>A (p.Ser131Tyr) c.206C>A (p.Ser69Tyr) n.2506C>A c.2759C>A (p.Ser920Tyr) c.1722C>A c.4262C>A (p.Ser1421Tyr) c.2822C>A (p.Ser941Tyr) c.4175C>A (p.Ser1392Tyr) c.2550C>A c.4271C>A (p.Ser1424Tyr) c.2629C>A n.758C>A c.3688C>A c.2902C>A c.2937C>A c.2919C>A c.2753C>A (p.Ser918Tyr) c.814C>A c.2176C>A (n.2176C>A) c.2608C>A c.2113C>A (n.2113C>A) c.2565C>A n.768C>A c.2519C>A (p.Ser840Tyr) c.4367C>A (p.Ser1456Tyr) n.579C>A n.2703C>A n.2238C>A c.344C>A (p.Ser115Tyr) n.2088C>A c.4274C>A (p.Ser1425Tyr) n.4655C>A | dbSNP |
19 | g.11041401C>G | CA404073387 | SMARCA4 | c.4361C>G (p.Ser1454Cys) c.4265C>G (p.Ser1422Cys) c.4166C>G (p.Ser1389Cys) c.432C>G c.392C>G (p.Ser131Cys) c.206C>G (p.Ser69Cys) n.2506C>G c.2759C>G (p.Ser920Cys) c.1722C>G c.4262C>G (p.Ser1421Cys) c.2822C>G (p.Ser941Cys) c.4175C>G (p.Ser1392Cys) c.2550C>G c.4271C>G (p.Ser1424Cys) c.2629C>G n.758C>G c.3688C>G c.2902C>G c.2937C>G c.2919C>G c.2753C>G (p.Ser918Cys) c.814C>G c.2176C>G (n.2176C>G) c.2608C>G c.2113C>G (n.2113C>G) c.2565C>G n.768C>G c.2519C>G (p.Ser840Cys) c.4367C>G (p.Ser1456Cys) n.579C>G n.2703C>G n.2238C>G c.344C>G (p.Ser115Cys) n.2088C>G c.4274C>G (p.Ser1425Cys) n.4655C>G | dbSNP |
19 | g.11041401C>T | CA404073390 | SMARCA4 | c.4361C>T (p.Ser1454Phe) c.4265C>T (p.Ser1422Phe) c.4166C>T (p.Ser1389Phe) c.432C>T c.392C>T (p.Ser131Phe) c.206C>T (p.Ser69Phe) n.2506C>T c.2759C>T (p.Ser920Phe) c.1722C>T c.4262C>T (p.Ser1421Phe) c.2822C>T (p.Ser941Phe) c.4175C>T (p.Ser1392Phe) c.2550C>T c.4271C>T (p.Ser1424Phe) c.2629C>T n.758C>T c.3688C>T c.2902C>T c.2937C>T c.2919C>T c.2753C>T (p.Ser918Phe) c.814C>T c.2176C>T (n.2176C>T) c.2608C>T c.2113C>T (n.2113C>T) c.2565C>T n.768C>T c.2519C>T (p.Ser840Phe) c.4367C>T (p.Ser1456Phe) n.579C>T n.2703C>T n.2238C>T c.344C>T (p.Ser115Phe) n.2088C>T c.4274C>T (p.Ser1425Phe) n.4655C>T | ClinVar dbSNP |
19 | g.11041402C>A | CA505743834 | SMARCA4 | c.4362C>A (p.Ser1454=) c.4266C>A (p.Ser1422=) c.4167C>A (p.Ser1389=) c.433C>A c.393C>A (p.Ser131=) c.207C>A (p.Ser69=) n.2507C>A c.2760C>A (p.Ser920=) c.1723C>A c.4263C>A (p.Ser1421=) c.2823C>A (p.Ser941=) c.4176C>A (p.Ser1392=) c.2551C>A c.4272C>A (p.Ser1424=) c.2630C>A n.759C>A c.3689C>A c.2903C>A c.2938C>A c.2920C>A c.2754C>A (p.Ser918=) c.815C>A c.2177C>A (n.2177C>A) c.2609C>A c.2114C>A (n.2114C>A) c.2566C>A n.769C>A c.2520C>A (p.Ser840=) c.4368C>A (p.Ser1456=) n.580C>A n.2704C>A n.2239C>A c.345C>A (p.Ser115=) n.2089C>A c.4275C>A (p.Ser1425=) n.4656C>A | dbSNP |
19 | g.11041402C>G | CA505743836 | SMARCA4 | c.4362C>G (p.Ser1454=) c.4266C>G (p.Ser1422=) c.4167C>G (p.Ser1389=) c.433C>G c.393C>G (p.Ser131=) c.207C>G (p.Ser69=) n.2507C>G c.2760C>G (p.Ser920=) c.1723C>G c.4263C>G (p.Ser1421=) c.2823C>G (p.Ser941=) c.4176C>G (p.Ser1392=) c.2551C>G c.4272C>G (p.Ser1424=) c.2630C>G n.759C>G c.3689C>G c.2903C>G c.2938C>G c.2920C>G c.2754C>G (p.Ser918=) c.815C>G c.2177C>G (n.2177C>G) c.2609C>G c.2114C>G (n.2114C>G) c.2566C>G n.769C>G c.2520C>G (p.Ser840=) c.4368C>G (p.Ser1456=) n.580C>G n.2704C>G n.2239C>G c.345C>G (p.Ser115=) n.2089C>G c.4275C>G (p.Ser1425=) n.4656C>G | dbSNP |
19 | g.11041402C>T | CA505743835 | SMARCA4 | c.4362C>T (p.Ser1454=) c.4266C>T (p.Ser1422=) c.4167C>T (p.Ser1389=) c.433C>T c.393C>T (p.Ser131=) c.207C>T (p.Ser69=) n.2507C>T c.2760C>T (p.Ser920=) c.1723C>T c.4263C>T (p.Ser1421=) c.2823C>T (p.Ser941=) c.4176C>T (p.Ser1392=) c.2551C>T c.4272C>T (p.Ser1424=) c.2630C>T n.759C>T c.3689C>T c.2903C>T c.2938C>T c.2920C>T c.2754C>T (p.Ser918=) c.815C>T c.2177C>T (n.2177C>T) c.2609C>T c.2114C>T (n.2114C>T) c.2566C>T n.769C>T c.2520C>T (p.Ser840=) c.4368C>T (p.Ser1456=) n.580C>T n.2704C>T n.2239C>T c.345C>T (p.Ser115=) n.2089C>T c.4275C>T (p.Ser1425=) n.4656C>T | ClinVar dbSNP gnomAD v4 |
19 | g.11041403A= | CA2322734893 | SMARCA4 | c.4363A= (p.Thr1455=) c.4267A= (p.Thr1423=) c.4168A= (p.Thr1390=) c.434A= c.394A= (p.Thr132=) c.208A= (p.Thr70=) n.2508A= c.2761A= (p.Thr921=) c.1724A= c.4264A= (p.Thr1422=) c.2824A= (p.Thr942=) c.4177A= (p.Thr1393=) c.2552A= c.4273A= (p.Thr1425=) c.2631A= n.760A= c.3690A= c.2904A= c.2939A= c.2921A= c.2755A= (p.Thr919=) c.816A= c.2178A= (n.2178A=) c.2610A= c.2115A= (n.2115A=) c.2567A= n.770A= c.2521A= (p.Thr841=) c.4369A= (p.Thr1457=) n.581A= n.2705A= n.2240A= c.346A= (p.Thr116=) n.2090A= c.4276A= (p.Thr1426=) n.4657A= | |
19 | g.11041403A>C | CA404073404 | SMARCA4 | c.4363A>C (p.Thr1455Pro) c.4267A>C (p.Thr1423Pro) c.4168A>C (p.Thr1390Pro) c.434A>C c.394A>C (p.Thr132Pro) c.208A>C (p.Thr70Pro) n.2508A>C c.2761A>C (p.Thr921Pro) c.1724A>C c.4264A>C (p.Thr1422Pro) c.2824A>C (p.Thr942Pro) c.4177A>C (p.Thr1393Pro) c.2552A>C c.4273A>C (p.Thr1425Pro) c.2631A>C n.760A>C c.3690A>C c.2904A>C c.2939A>C c.2921A>C c.2755A>C (p.Thr919Pro) c.816A>C c.2178A>C (n.2178A>C) c.2610A>C c.2115A>C (n.2115A>C) c.2567A>C n.770A>C c.2521A>C (p.Thr841Pro) c.4369A>C (p.Thr1457Pro) n.581A>C n.2705A>C n.2240A>C c.346A>C (p.Thr116Pro) n.2090A>C c.4276A>C (p.Thr1426Pro) n.4657A>C | ClinVar dbSNP |
19 | g.11041403A>G | CA404073400 | SMARCA4 | c.4363A>G (p.Thr1455Ala) c.4267A>G (p.Thr1423Ala) c.4168A>G (p.Thr1390Ala) c.434A>G c.394A>G (p.Thr132Ala) c.208A>G (p.Thr70Ala) n.2508A>G c.2761A>G (p.Thr921Ala) c.1724A>G c.4264A>G (p.Thr1422Ala) c.2824A>G (p.Thr942Ala) c.4177A>G (p.Thr1393Ala) c.2552A>G c.4273A>G (p.Thr1425Ala) c.2631A>G n.760A>G c.3690A>G c.2904A>G c.2939A>G c.2921A>G c.2755A>G (p.Thr919Ala) c.816A>G c.2178A>G (n.2178A>G) c.2610A>G c.2115A>G (n.2115A>G) c.2567A>G n.770A>G c.2521A>G (p.Thr841Ala) c.4369A>G (p.Thr1457Ala) n.581A>G n.2705A>G n.2240A>G c.346A>G (p.Thr116Ala) n.2090A>G c.4276A>G (p.Thr1426Ala) n.4657A>G | ClinVar dbSNP COSMIC COSMIC |
19 | g.11041403A>T | CA404073393 | SMARCA4 | c.4363A>T (p.Thr1455Ser) c.4267A>T (p.Thr1423Ser) c.4168A>T (p.Thr1390Ser) c.434A>T c.394A>T (p.Thr132Ser) c.208A>T (p.Thr70Ser) n.2508A>T c.2761A>T (p.Thr921Ser) c.1724A>T c.4264A>T (p.Thr1422Ser) c.2824A>T (p.Thr942Ser) c.4177A>T (p.Thr1393Ser) c.2552A>T c.4273A>T (p.Thr1425Ser) c.2631A>T n.760A>T c.3690A>T c.2904A>T c.2939A>T c.2921A>T c.2755A>T (p.Thr919Ser) c.816A>T c.2178A>T (n.2178A>T) c.2610A>T c.2115A>T (n.2115A>T) c.2567A>T n.770A>T c.2521A>T (p.Thr841Ser) c.4369A>T (p.Thr1457Ser) n.581A>T n.2705A>T n.2240A>T c.346A>T (p.Thr116Ser) n.2090A>T c.4276A>T (p.Thr1426Ser) n.4657A>T | ClinVar dbSNP |
19 | g.11041404C>A | CA404073419 | SMARCA4 | c.4364C>A (p.Thr1455Asn) c.4268C>A (p.Thr1423Asn) c.4169C>A (p.Thr1390Asn) c.435C>A c.395C>A (p.Thr132Asn) c.209C>A (p.Thr70Asn) n.2509C>A c.2762C>A (p.Thr921Asn) c.1725C>A c.4265C>A (p.Thr1422Asn) c.2825C>A (p.Thr942Asn) c.4178C>A (p.Thr1393Asn) c.2553C>A c.4274C>A (p.Thr1425Asn) c.2632C>A n.761C>A c.3691C>A c.2905C>A c.2940C>A c.2922C>A c.2756C>A (p.Thr919Asn) c.817C>A c.2179C>A (n.2179C>A) c.2611C>A c.2116C>A (n.2116C>A) c.2568C>A n.771C>A c.2522C>A (p.Thr841Asn) c.4370C>A (p.Thr1457Asn) n.582C>A n.2706C>A n.2241C>A c.347C>A (p.Thr116Asn) n.2091C>A c.4277C>A (p.Thr1426Asn) n.4658C>A | |
19 | g.11041404C= | CA2322734897 | SMARCA4 | c.4364C= (p.Thr1455=) c.4268C= (p.Thr1423=) c.4169C= (p.Thr1390=) c.435C= c.395C= (p.Thr132=) c.209C= (p.Thr70=) n.2509C= c.2762C= (p.Thr921=) c.1725C= c.4265C= (p.Thr1422=) c.2825C= (p.Thr942=) c.4178C= (p.Thr1393=) c.2553C= c.4274C= (p.Thr1425=) c.2632C= n.761C= c.3691C= c.2905C= c.2940C= c.2922C= c.2756C= (p.Thr919=) c.817C= c.2179C= (n.2179C=) c.2611C= c.2116C= (n.2116C=) c.2568C= n.771C= c.2522C= (p.Thr841=) c.4370C= (p.Thr1457=) n.582C= n.2706C= n.2241C= c.347C= (p.Thr116=) n.2091C= c.4277C= (p.Thr1426=) n.4658C= | |
19 | g.11041404C>G | CA404073412 | SMARCA4 | c.4364C>G (p.Thr1455Ser) c.4268C>G (p.Thr1423Ser) c.4169C>G (p.Thr1390Ser) c.435C>G c.395C>G (p.Thr132Ser) c.209C>G (p.Thr70Ser) n.2509C>G c.2762C>G (p.Thr921Ser) c.1725C>G c.4265C>G (p.Thr1422Ser) c.2825C>G (p.Thr942Ser) c.4178C>G (p.Thr1393Ser) c.2553C>G c.4274C>G (p.Thr1425Ser) c.2632C>G n.761C>G c.3691C>G c.2905C>G c.2940C>G c.2922C>G c.2756C>G (p.Thr919Ser) c.817C>G c.2179C>G (n.2179C>G) c.2611C>G c.2116C>G (n.2116C>G) c.2568C>G n.771C>G c.2522C>G (p.Thr841Ser) c.4370C>G (p.Thr1457Ser) n.582C>G n.2706C>G n.2241C>G c.347C>G (p.Thr116Ser) n.2091C>G c.4277C>G (p.Thr1426Ser) n.4658C>G | |
19 | g.11041404C>T | CA404073415 | SMARCA4 | c.4364C>T (p.Thr1455Ile) c.4268C>T (p.Thr1423Ile) c.4169C>T (p.Thr1390Ile) c.435C>T c.395C>T (p.Thr132Ile) c.209C>T (p.Thr70Ile) n.2509C>T c.2762C>T (p.Thr921Ile) c.1725C>T c.4265C>T (p.Thr1422Ile) c.2825C>T (p.Thr942Ile) c.4178C>T (p.Thr1393Ile) c.2553C>T c.4274C>T (p.Thr1425Ile) c.2632C>T n.761C>T c.3691C>T c.2905C>T c.2940C>T c.2922C>T c.2756C>T (p.Thr919Ile) c.817C>T c.2179C>T (n.2179C>T) c.2611C>T c.2116C>T (n.2116C>T) c.2568C>T n.771C>T c.2522C>T (p.Thr841Ile) c.4370C>T (p.Thr1457Ile) n.582C>T n.2706C>T n.2241C>T c.347C>T (p.Thr116Ile) n.2091C>T c.4277C>T (p.Thr1426Ile) n.4658C>T | dbSNP gnomAD v4 |
19 | g.11041405C>A | CA505743837 | SMARCA4 | c.4365C>A (p.Thr1455=) c.4269C>A (p.Thr1423=) c.4170C>A (p.Thr1390=) c.436C>A c.396C>A (p.Thr132=) c.210C>A (p.Thr70=) n.2510C>A c.2763C>A (p.Thr921=) c.1726C>A c.4266C>A (p.Thr1422=) c.2826C>A (p.Thr942=) c.4179C>A (p.Thr1393=) c.2554C>A c.4275C>A (p.Thr1425=) c.2633C>A n.762C>A c.3692C>A c.2906C>A c.2941C>A c.2923C>A c.2757C>A (p.Thr919=) c.818C>A c.2180C>A (n.2180C>A) c.2612C>A c.2117C>A (n.2117C>A) c.2569C>A n.772C>A c.2523C>A (p.Thr841=) c.4371C>A (p.Thr1457=) n.583C>A n.2707C>A n.2242C>A c.348C>A (p.Thr116=) n.2092C>A c.4278C>A (p.Thr1426=) n.4659C>A | dbSNP |
19 | g.11041405C= | CA2322734899 | SMARCA4 | c.4365C= (p.Thr1455=) c.4269C= (p.Thr1423=) c.4170C= (p.Thr1390=) c.436C= c.396C= (p.Thr132=) c.210C= (p.Thr70=) n.2510C= c.2763C= (p.Thr921=) c.1726C= c.4266C= (p.Thr1422=) c.2826C= (p.Thr942=) c.4179C= (p.Thr1393=) c.2554C= c.4275C= (p.Thr1425=) c.2633C= n.762C= c.3692C= c.2906C= c.2941C= c.2923C= c.2757C= (p.Thr919=) c.818C= c.2180C= (n.2180C=) c.2612C= c.2117C= (n.2117C=) c.2569C= n.772C= c.2523C= (p.Thr841=) c.4371C= (p.Thr1457=) n.583C= n.2707C= n.2242C= c.348C= (p.Thr116=) n.2092C= c.4278C= (p.Thr1426=) n.4659C= | |
19 | g.11041405C>G | CA505743838 | SMARCA4 | c.4365C>G (p.Thr1455=) c.4269C>G (p.Thr1423=) c.4170C>G (p.Thr1390=) c.436C>G c.396C>G (p.Thr132=) c.210C>G (p.Thr70=) n.2510C>G c.2763C>G (p.Thr921=) c.1726C>G c.4266C>G (p.Thr1422=) c.2826C>G (p.Thr942=) c.4179C>G (p.Thr1393=) c.2554C>G c.4275C>G (p.Thr1425=) c.2633C>G n.762C>G c.3692C>G c.2906C>G c.2941C>G c.2923C>G c.2757C>G (p.Thr919=) c.818C>G c.2180C>G (n.2180C>G) c.2612C>G c.2117C>G (n.2117C>G) c.2569C>G n.772C>G c.2523C>G (p.Thr841=) c.4371C>G (p.Thr1457=) n.583C>G n.2707C>G n.2242C>G c.348C>G (p.Thr116=) n.2092C>G c.4278C>G (p.Thr1426=) n.4659C>G | |
19 | g.11041405C>T | CA505743839 | SMARCA4 | c.4365C>T (p.Thr1455=) c.4269C>T (p.Thr1423=) c.4170C>T (p.Thr1390=) c.436C>T c.396C>T (p.Thr132=) c.210C>T (p.Thr70=) n.2510C>T c.2763C>T (p.Thr921=) c.1726C>T c.4266C>T (p.Thr1422=) c.2826C>T (p.Thr942=) c.4179C>T (p.Thr1393=) c.2554C>T c.4275C>T (p.Thr1425=) c.2633C>T n.762C>T c.3692C>T c.2906C>T c.2941C>T c.2923C>T c.2757C>T (p.Thr919=) c.818C>T c.2180C>T (n.2180C>T) c.2612C>T c.2117C>T (n.2117C>T) c.2569C>T n.772C>T c.2523C>T (p.Thr841=) c.4371C>T (p.Thr1457=) n.583C>T n.2707C>T n.2242C>T c.348C>T (p.Thr116=) n.2092C>T c.4278C>T (p.Thr1426=) n.4659C>T | ClinVar dbSNP |
19 | g.11041406C>A | CA404073424 | SMARCA4 | c.4366C>A (p.Pro1456Thr) c.4270C>A (p.Pro1424Thr) c.4171C>A (p.Pro1391Thr) c.437C>A c.397C>A (p.Pro133Thr) c.211C>A (p.Pro71Thr) n.2511C>A c.2764C>A (p.Pro922Thr) c.1727C>A c.4267C>A (p.Pro1423Thr) c.2827C>A (p.Pro943Thr) c.4180C>A (p.Pro1394Thr) c.2555C>A c.4276C>A (p.Pro1426Thr) c.2634C>A n.763C>A c.3693C>A c.2907C>A c.2942C>A c.2924C>A c.2758C>A (p.Pro920Thr) c.819C>A c.2181C>A (n.2181C>A) c.2613C>A c.2118C>A (n.2118C>A) c.2570C>A n.773C>A c.2524C>A (p.Pro842Thr) c.4372C>A (p.Pro1458Thr) n.584C>A n.2708C>A n.2243C>A c.349C>A (p.Pro117Thr) n.2093C>A c.4279C>A (p.Pro1427Thr) n.4660C>A | |
19 | g.11041406C= | CA2322734905 | SMARCA4 | c.4366C= (p.Pro1456=) c.4270C= (p.Pro1424=) c.4171C= (p.Pro1391=) c.437C= c.397C= (p.Pro133=) c.211C= (p.Pro71=) n.2511C= c.2764C= (p.Pro922=) c.1727C= c.4267C= (p.Pro1423=) c.2827C= (p.Pro943=) c.4180C= (p.Pro1394=) c.2555C= c.4276C= (p.Pro1426=) c.2634C= n.763C= c.3693C= c.2907C= c.2942C= c.2924C= c.2758C= (p.Pro920=) c.819C= c.2181C= (n.2181C=) c.2613C= c.2118C= (n.2118C=) c.2570C= n.773C= c.2524C= (p.Pro842=) c.4372C= (p.Pro1458=) n.584C= n.2708C= n.2243C= c.349C= (p.Pro117=) n.2093C= c.4279C= (p.Pro1427=) n.4660C= | |
19 | g.11041406C>G | CA404073427 | SMARCA4 | c.4366C>G (p.Pro1456Ala) c.4270C>G (p.Pro1424Ala) c.4171C>G (p.Pro1391Ala) c.437C>G c.397C>G (p.Pro133Ala) c.211C>G (p.Pro71Ala) n.2511C>G c.2764C>G (p.Pro922Ala) c.1727C>G c.4267C>G (p.Pro1423Ala) c.2827C>G (p.Pro943Ala) c.4180C>G (p.Pro1394Ala) c.2555C>G c.4276C>G (p.Pro1426Ala) c.2634C>G n.763C>G c.3693C>G c.2907C>G c.2942C>G c.2924C>G c.2758C>G (p.Pro920Ala) c.819C>G c.2181C>G (n.2181C>G) c.2613C>G c.2118C>G (n.2118C>G) c.2570C>G n.773C>G c.2524C>G (p.Pro842Ala) c.4372C>G (p.Pro1458Ala) n.584C>G n.2708C>G n.2243C>G c.349C>G (p.Pro117Ala) n.2093C>G c.4279C>G (p.Pro1427Ala) n.4660C>G | ClinVar |
19 | g.11041406C>T | CA305294357 | SMARCA4 | c.4366C>T (p.Pro1456Ser) c.4270C>T (p.Pro1424Ser) c.4171C>T (p.Pro1391Ser) c.437C>T c.397C>T (p.Pro133Ser) c.211C>T (p.Pro71Ser) n.2511C>T c.2764C>T (p.Pro922Ser) c.1727C>T c.4267C>T (p.Pro1423Ser) c.2827C>T (p.Pro943Ser) c.4180C>T (p.Pro1394Ser) c.2555C>T c.4276C>T (p.Pro1426Ser) c.2634C>T n.763C>T c.3693C>T c.2907C>T c.2942C>T c.2924C>T c.2758C>T (p.Pro920Ser) c.819C>T c.2181C>T (n.2181C>T) c.2613C>T c.2118C>T (n.2118C>T) c.2570C>T n.773C>T c.2524C>T (p.Pro842Ser) c.4372C>T (p.Pro1458Ser) n.584C>T n.2708C>T n.2243C>T c.349C>T (p.Pro117Ser) n.2093C>T c.4279C>T (p.Pro1427Ser) n.4660C>T | dbSNP COSMIC COSMIC |
19 | g.11041407C>A | CA404073434 | SMARCA4 | c.4367C>A (p.Pro1456Gln) c.4271C>A (p.Pro1424Gln) c.4172C>A (p.Pro1391Gln) c.438C>A c.398C>A (p.Pro133Gln) c.212C>A (p.Pro71Gln) n.2512C>A c.2765C>A (p.Pro922Gln) c.1728C>A c.4268C>A (p.Pro1423Gln) c.2828C>A (p.Pro943Gln) c.4181C>A (p.Pro1394Gln) c.2556C>A c.4277C>A (p.Pro1426Gln) c.2635C>A n.764C>A c.3694C>A c.2908C>A c.2943C>A c.2925C>A c.2759C>A (p.Pro920Gln) c.820C>A c.2182C>A (n.2182C>A) c.2614C>A c.2119C>A (n.2119C>A) c.2571C>A n.774C>A c.2525C>A (p.Pro842Gln) c.4373C>A (p.Pro1458Gln) n.585C>A n.2709C>A n.2244C>A c.350C>A (p.Pro117Gln) n.2094C>A c.4280C>A (p.Pro1427Gln) n.4661C>A | ClinVar dbSNP |
19 | g.11041407C= | CA2322734912 | SMARCA4 | c.4367C= (p.Pro1456=) c.4271C= (p.Pro1424=) c.4172C= (p.Pro1391=) c.438C= c.398C= (p.Pro133=) c.212C= (p.Pro71=) n.2512C= c.2765C= (p.Pro922=) c.1728C= c.4268C= (p.Pro1423=) c.2828C= (p.Pro943=) c.4181C= (p.Pro1394=) c.2556C= c.4277C= (p.Pro1426=) c.2635C= n.764C= c.3694C= c.2908C= c.2943C= c.2925C= c.2759C= (p.Pro920=) c.820C= c.2182C= (n.2182C=) c.2614C= c.2119C= (n.2119C=) c.2571C= n.774C= c.2525C= (p.Pro842=) c.4373C= (p.Pro1458=) n.585C= n.2709C= n.2244C= c.350C= (p.Pro117=) n.2094C= c.4280C= (p.Pro1427=) n.4661C= | |
19 | g.11041407C>G | CA9204689 | SMARCA4 | c.4367C>G (p.Pro1456Arg) c.4271C>G (p.Pro1424Arg) c.4172C>G (p.Pro1391Arg) c.438C>G c.398C>G (p.Pro133Arg) c.212C>G (p.Pro71Arg) n.2512C>G c.2765C>G (p.Pro922Arg) c.1728C>G c.4268C>G (p.Pro1423Arg) c.2828C>G (p.Pro943Arg) c.4181C>G (p.Pro1394Arg) c.2556C>G c.4277C>G (p.Pro1426Arg) c.2635C>G n.764C>G c.3694C>G c.2908C>G c.2943C>G c.2925C>G c.2759C>G (p.Pro920Arg) c.820C>G c.2182C>G (n.2182C>G) c.2614C>G c.2119C>G (n.2119C>G) c.2571C>G n.774C>G c.2525C>G (p.Pro842Arg) c.4373C>G (p.Pro1458Arg) n.585C>G n.2709C>G n.2244C>G c.350C>G (p.Pro117Arg) n.2094C>G c.4280C>G (p.Pro1427Arg) n.4661C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11041407C>T | CA9204690 | SMARCA4 | c.4367C>T (p.Pro1456Leu) c.4271C>T (p.Pro1424Leu) c.4172C>T (p.Pro1391Leu) c.438C>T c.398C>T (p.Pro133Leu) c.212C>T (p.Pro71Leu) n.2512C>T c.2765C>T (p.Pro922Leu) c.1728C>T c.4268C>T (p.Pro1423Leu) c.2828C>T (p.Pro943Leu) c.4181C>T (p.Pro1394Leu) c.2556C>T c.4277C>T (p.Pro1426Leu) c.2635C>T n.764C>T c.3694C>T c.2908C>T c.2943C>T c.2925C>T c.2759C>T (p.Pro920Leu) c.820C>T c.2182C>T (n.2182C>T) c.2614C>T c.2119C>T (n.2119C>T) c.2571C>T n.774C>T c.2525C>T (p.Pro842Leu) c.4373C>T (p.Pro1458Leu) n.585C>T n.2709C>T n.2244C>T c.350C>T (p.Pro117Leu) n.2094C>T c.4280C>T (p.Pro1427Leu) n.4661C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.11041408G>A | CA350591 | SMARCA4 | c.4368G>A (p.Pro1456=) c.4272G>A (p.Pro1424=) c.4173G>A (p.Pro1391=) c.439G>A c.399G>A (p.Pro133=) c.213G>A (p.Pro71=) n.2513G>A c.2766G>A (p.Pro922=) c.1729G>A c.4269G>A (p.Pro1423=) c.2829G>A (p.Pro943=) c.4182G>A (p.Pro1394=) c.2557G>A c.4278G>A (p.Pro1426=) c.2636G>A n.765G>A c.3695G>A c.2909G>A c.2944G>A c.2926G>A c.2760G>A (p.Pro920=) c.821G>A c.2183G>A (n.2183G>A) c.2615G>A c.2120G>A (n.2120G>A) c.2572G>A n.775G>A c.2526G>A (p.Pro842=) c.4374G>A (p.Pro1458=) n.586G>A n.2710G>A n.2245G>A c.351G>A (p.Pro117=) n.2095G>A c.4281G>A (p.Pro1427=) n.4662G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11041408G>C | CA505743841 | SMARCA4 | c.4368G>C (p.Pro1456=) c.4272G>C (p.Pro1424=) c.4173G>C (p.Pro1391=) c.439G>C c.399G>C (p.Pro133=) c.213G>C (p.Pro71=) n.2513G>C c.2766G>C (p.Pro922=) c.1729G>C c.4269G>C (p.Pro1423=) c.2829G>C (p.Pro943=) c.4182G>C (p.Pro1394=) c.2557G>C c.4278G>C (p.Pro1426=) c.2636G>C n.765G>C c.3695G>C c.2909G>C c.2944G>C c.2926G>C c.2760G>C (p.Pro920=) c.821G>C c.2183G>C (n.2183G>C) c.2615G>C c.2120G>C (n.2120G>C) c.2572G>C n.775G>C c.2526G>C (p.Pro842=) c.4374G>C (p.Pro1458=) n.586G>C n.2710G>C n.2245G>C c.351G>C (p.Pro117=) n.2095G>C c.4281G>C (p.Pro1427=) n.4662G>C | dbSNP gnomAD v2 gnomAD v4 |
19 | g.11041408G= | CA2322734918 | SMARCA4 | c.4368G= (p.Pro1456=) c.4272G= (p.Pro1424=) c.4173G= (p.Pro1391=) c.439G= c.399G= (p.Pro133=) c.213G= (p.Pro71=) n.2513G= c.2766G= (p.Pro922=) c.1729G= c.4269G= (p.Pro1423=) c.2829G= (p.Pro943=) c.4182G= (p.Pro1394=) c.2557G= c.4278G= (p.Pro1426=) c.2636G= n.765G= c.3695G= c.2909G= c.2944G= c.2926G= c.2760G= (p.Pro920=) c.821G= c.2183G= (n.2183G=) c.2615G= c.2120G= (n.2120G=) c.2572G= n.775G= c.2526G= (p.Pro842=) c.4374G= (p.Pro1458=) n.586G= n.2710G= n.2245G= c.351G= (p.Pro117=) n.2095G= c.4281G= (p.Pro1427=) n.4662G= | |
19 | g.11041408G>T | CA505743840 | SMARCA4 | c.4368G>T (p.Pro1456=) c.4272G>T (p.Pro1424=) c.4173G>T (p.Pro1391=) c.439G>T c.399G>T (p.Pro133=) c.213G>T (p.Pro71=) n.2513G>T c.2766G>T (p.Pro922=) c.1729G>T c.4269G>T (p.Pro1423=) c.2829G>T (p.Pro943=) c.4182G>T (p.Pro1394=) c.2557G>T c.4278G>T (p.Pro1426=) c.2636G>T n.765G>T c.3695G>T c.2909G>T c.2944G>T c.2926G>T c.2760G>T (p.Pro920=) c.821G>T c.2183G>T (n.2183G>T) c.2615G>T c.2120G>T (n.2120G>T) c.2572G>T n.775G>T c.2526G>T (p.Pro842=) c.4374G>T (p.Pro1458=) n.586G>T n.2710G>T n.2245G>T c.351G>T (p.Pro117=) n.2095G>T c.4281G>T (p.Pro1427=) n.4662G>T | ClinVar |
19 | g.11041409A= | CA2322734925 | SMARCA4 | c.4369A= (p.Thr1457=) c.4273A= (p.Thr1425=) c.4174A= (p.Thr1392=) c.440A= c.400A= (p.Thr134=) c.214A= (p.Thr72=) n.2514A= c.2767A= (p.Thr923=) c.1730A= c.4270A= (p.Thr1424=) c.2830A= (p.Thr944=) c.4183A= (p.Thr1395=) c.2558A= c.4279A= (p.Thr1427=) c.2637A= n.766A= c.3696A= c.2910A= c.2945A= c.2927A= c.2761A= (p.Thr921=) c.822A= c.2184A= (n.2184A=) c.2616A= c.2121A= (n.2121A=) c.2573A= n.776A= c.2527A= (p.Thr843=) c.4375A= (p.Thr1459=) n.587A= n.2711A= n.2246A= c.352A= (p.Thr118=) n.2096A= c.4282A= (p.Thr1428=) n.4663A= | |
19 | g.11041409A>C | CA404073459 | SMARCA4 | c.4369A>C (p.Thr1457Pro) c.4273A>C (p.Thr1425Pro) c.4174A>C (p.Thr1392Pro) c.440A>C c.400A>C (p.Thr134Pro) c.214A>C (p.Thr72Pro) n.2514A>C c.2767A>C (p.Thr923Pro) c.1730A>C c.4270A>C (p.Thr1424Pro) c.2830A>C (p.Thr944Pro) c.4183A>C (p.Thr1395Pro) c.2558A>C c.4279A>C (p.Thr1427Pro) c.2637A>C n.766A>C c.3696A>C c.2910A>C c.2945A>C c.2927A>C c.2761A>C (p.Thr921Pro) c.822A>C c.2184A>C (n.2184A>C) c.2616A>C c.2121A>C (n.2121A>C) c.2573A>C n.776A>C c.2527A>C (p.Thr843Pro) c.4375A>C (p.Thr1459Pro) n.587A>C n.2711A>C n.2246A>C c.352A>C (p.Thr118Pro) n.2096A>C c.4282A>C (p.Thr1428Pro) n.4663A>C | |
19 | g.11041409A>G | CA404073468 | SMARCA4 | c.4369A>G (p.Thr1457Ala) c.4273A>G (p.Thr1425Ala) c.4174A>G (p.Thr1392Ala) c.440A>G c.400A>G (p.Thr134Ala) c.214A>G (p.Thr72Ala) n.2514A>G c.2767A>G (p.Thr923Ala) c.1730A>G c.4270A>G (p.Thr1424Ala) c.2830A>G (p.Thr944Ala) c.4183A>G (p.Thr1395Ala) c.2558A>G c.4279A>G (p.Thr1427Ala) c.2637A>G n.766A>G c.3696A>G c.2910A>G c.2945A>G c.2927A>G c.2761A>G (p.Thr921Ala) c.822A>G c.2184A>G (n.2184A>G) c.2616A>G c.2121A>G (n.2121A>G) c.2573A>G n.776A>G c.2527A>G (p.Thr843Ala) c.4375A>G (p.Thr1459Ala) n.587A>G n.2711A>G n.2246A>G c.352A>G (p.Thr118Ala) n.2096A>G c.4282A>G (p.Thr1428Ala) n.4663A>G | |
19 | g.11041409A>T | CA16616183 | SMARCA4 | c.4369A>T (p.Thr1457Ser) c.4273A>T (p.Thr1425Ser) c.4174A>T (p.Thr1392Ser) c.440A>T c.400A>T (p.Thr134Ser) c.214A>T (p.Thr72Ser) n.2514A>T c.2767A>T (p.Thr923Ser) c.1730A>T c.4270A>T (p.Thr1424Ser) c.2830A>T (p.Thr944Ser) c.4183A>T (p.Thr1395Ser) c.2558A>T c.4279A>T (p.Thr1427Ser) c.2637A>T n.766A>T c.3696A>T c.2910A>T c.2945A>T c.2927A>T c.2761A>T (p.Thr921Ser) c.822A>T c.2184A>T (n.2184A>T) c.2616A>T c.2121A>T (n.2121A>T) c.2573A>T n.776A>T c.2527A>T (p.Thr843Ser) c.4375A>T (p.Thr1459Ser) n.587A>T n.2711A>T n.2246A>T c.352A>T (p.Thr118Ser) n.2096A>T c.4282A>T (p.Thr1428Ser) n.4663A>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11041413_11041415del | CA2697556284 | SMARCA4 | c.4373_4375del (p.Thr1458del) c.4277_4279del (p.Thr1426del) c.4178_4180del (p.Thr1393del) c.444_446del c.404_406del (p.Thr135del) c.218_220del (p.Thr73del) n.2518_2520del c.2771_2773del (p.Thr924del) c.1734_1736del c.4274_4276del (p.Thr1425del) c.2834_2836del (p.Thr945del) c.4187_4189del (p.Thr1396del) c.2562_2564del c.4283_4285del (p.Thr1428del) c.2641_2643del n.770_772del c.3700_3702del c.2914_2916del c.2949_2951del c.2931_2933del c.2765_2767del (p.Thr922del) c.826_828del c.2188_2190del (n.2188_2190del) c.2620_2622del c.2125_2127del (n.2125_2127del) c.2577_2579del n.780_782del c.2531_2533del (p.Thr844del) c.4379_4381del (p.Thr1460del) n.591_593del n.2715_2717del n.2250_2252del c.356_358del (p.Thr119del) n.2100_2102del c.4286_4288del (p.Thr1429del) n.4667_4669del | ClinVar |
19 | g.11041410C>A | CA404073480 | SMARCA4 | c.4370C>A (p.Thr1457Asn) c.4274C>A (p.Thr1425Asn) c.4175C>A (p.Thr1392Asn) c.441C>A c.401C>A (p.Thr134Asn) c.215C>A (p.Thr72Asn) n.2515C>A c.2768C>A (p.Thr923Asn) c.1731C>A c.4271C>A (p.Thr1424Asn) c.2831C>A (p.Thr944Asn) c.4184C>A (p.Thr1395Asn) c.2559C>A c.4280C>A (p.Thr1427Asn) c.2638C>A n.767C>A c.3697C>A c.2911C>A c.2946C>A c.2928C>A c.2762C>A (p.Thr921Asn) c.823C>A c.2185C>A (n.2185C>A) c.2617C>A c.2122C>A (n.2122C>A) c.2574C>A n.777C>A c.2528C>A (p.Thr843Asn) c.4376C>A (p.Thr1459Asn) n.588C>A n.2712C>A n.2247C>A c.353C>A (p.Thr118Asn) n.2097C>A c.4283C>A (p.Thr1428Asn) n.4664C>A | ClinVar |
19 | g.11041410C= | CA2322734929 | SMARCA4 | c.4370C= (p.Thr1457=) c.4274C= (p.Thr1425=) c.4175C= (p.Thr1392=) c.441C= c.401C= (p.Thr134=) c.215C= (p.Thr72=) n.2515C= c.2768C= (p.Thr923=) c.1731C= c.4271C= (p.Thr1424=) c.2831C= (p.Thr944=) c.4184C= (p.Thr1395=) c.2559C= c.4280C= (p.Thr1427=) c.2638C= n.767C= c.3697C= c.2911C= c.2946C= c.2928C= c.2762C= (p.Thr921=) c.823C= c.2185C= (n.2185C=) c.2617C= c.2122C= (n.2122C=) c.2574C= n.777C= c.2528C= (p.Thr843=) c.4376C= (p.Thr1459=) n.588C= n.2712C= n.2247C= c.353C= (p.Thr118=) n.2097C= c.4283C= (p.Thr1428=) n.4664C= | |
19 | g.11041410C>G | CA404073483 | SMARCA4 | c.4370C>G (p.Thr1457Ser) c.4274C>G (p.Thr1425Ser) c.4175C>G (p.Thr1392Ser) c.441C>G c.401C>G (p.Thr134Ser) c.215C>G (p.Thr72Ser) n.2515C>G c.2768C>G (p.Thr923Ser) c.1731C>G c.4271C>G (p.Thr1424Ser) c.2831C>G (p.Thr944Ser) c.4184C>G (p.Thr1395Ser) c.2559C>G c.4280C>G (p.Thr1427Ser) c.2638C>G n.767C>G c.3697C>G c.2911C>G c.2946C>G c.2928C>G c.2762C>G (p.Thr921Ser) c.823C>G c.2185C>G (n.2185C>G) c.2617C>G c.2122C>G (n.2122C>G) c.2574C>G n.777C>G c.2528C>G (p.Thr843Ser) c.4376C>G (p.Thr1459Ser) n.588C>G n.2712C>G n.2247C>G c.353C>G (p.Thr118Ser) n.2097C>G c.4283C>G (p.Thr1428Ser) n.4664C>G | gnomAD v4 |
19 | g.11041410C>T | CA404073475 | SMARCA4 | c.4370C>T (p.Thr1457Ile) c.4274C>T (p.Thr1425Ile) c.4175C>T (p.Thr1392Ile) c.441C>T c.401C>T (p.Thr134Ile) c.215C>T (p.Thr72Ile) n.2515C>T c.2768C>T (p.Thr923Ile) c.1731C>T c.4271C>T (p.Thr1424Ile) c.2831C>T (p.Thr944Ile) c.4184C>T (p.Thr1395Ile) c.2559C>T c.4280C>T (p.Thr1427Ile) c.2638C>T n.767C>T c.3697C>T c.2911C>T c.2946C>T c.2928C>T c.2762C>T (p.Thr921Ile) c.823C>T c.2185C>T (n.2185C>T) c.2617C>T c.2122C>T (n.2122C>T) c.2574C>T n.777C>T c.2528C>T (p.Thr843Ile) c.4376C>T (p.Thr1459Ile) n.588C>T n.2712C>T n.2247C>T c.353C>T (p.Thr118Ile) n.2097C>T c.4283C>T (p.Thr1428Ile) n.4664C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.11041411C>A | CA505743842 | SMARCA4 | c.4371C>A (p.Thr1457=) c.4275C>A (p.Thr1425=) c.4176C>A (p.Thr1392=) c.442C>A c.402C>A (p.Thr134=) c.216C>A (p.Thr72=) n.2516C>A c.2769C>A (p.Thr923=) c.1732C>A c.4272C>A (p.Thr1424=) c.2832C>A (p.Thr944=) c.4185C>A (p.Thr1395=) c.2560C>A c.4281C>A (p.Thr1427=) c.2639C>A n.768C>A c.3698C>A c.2912C>A c.2947C>A c.2929C>A c.2763C>A (p.Thr921=) c.824C>A c.2186C>A (n.2186C>A) c.2618C>A c.2123C>A (n.2123C>A) c.2575C>A n.778C>A c.2529C>A (p.Thr843=) c.4377C>A (p.Thr1459=) n.589C>A n.2713C>A n.2248C>A c.354C>A (p.Thr118=) n.2098C>A c.4284C>A (p.Thr1428=) n.4665C>A | ClinVar dbSNP |
19 | g.11041411C= | CA2322734932 | SMARCA4 | c.4371C= (p.Thr1457=) c.4275C= (p.Thr1425=) c.4176C= (p.Thr1392=) c.442C= c.402C= (p.Thr134=) c.216C= (p.Thr72=) n.2516C= c.2769C= (p.Thr923=) c.1732C= c.4272C= (p.Thr1424=) c.2832C= (p.Thr944=) c.4185C= (p.Thr1395=) c.2560C= c.4281C= (p.Thr1427=) c.2639C= n.768C= c.3698C= c.2912C= c.2947C= c.2929C= c.2763C= (p.Thr921=) c.824C= c.2186C= (n.2186C=) c.2618C= c.2123C= (n.2123C=) c.2575C= n.778C= c.2529C= (p.Thr843=) c.4377C= (p.Thr1459=) n.589C= n.2713C= n.2248C= c.354C= (p.Thr118=) n.2098C= c.4284C= (p.Thr1428=) n.4665C= | |
19 | g.11041411C>G | CA505743843 | SMARCA4 | c.4371C>G (p.Thr1457=) c.4275C>G (p.Thr1425=) c.4176C>G (p.Thr1392=) c.442C>G c.402C>G (p.Thr134=) c.216C>G (p.Thr72=) n.2516C>G c.2769C>G (p.Thr923=) c.1732C>G c.4272C>G (p.Thr1424=) c.2832C>G (p.Thr944=) c.4185C>G (p.Thr1395=) c.2560C>G c.4281C>G (p.Thr1427=) c.2639C>G n.768C>G c.3698C>G c.2912C>G c.2947C>G c.2929C>G c.2763C>G (p.Thr921=) c.824C>G c.2186C>G (n.2186C>G) c.2618C>G c.2123C>G (n.2123C>G) c.2575C>G n.778C>G c.2529C>G (p.Thr843=) c.4377C>G (p.Thr1459=) n.589C>G n.2713C>G n.2248C>G c.354C>G (p.Thr118=) n.2098C>G c.4284C>G (p.Thr1428=) n.4665C>G | |
19 | g.11041411C>T | CA505743844 | SMARCA4 | c.4371C>T (p.Thr1457=) c.4275C>T (p.Thr1425=) c.4176C>T (p.Thr1392=) c.442C>T c.402C>T (p.Thr134=) c.216C>T (p.Thr72=) n.2516C>T c.2769C>T (p.Thr923=) c.1732C>T c.4272C>T (p.Thr1424=) c.2832C>T (p.Thr944=) c.4185C>T (p.Thr1395=) c.2560C>T c.4281C>T (p.Thr1427=) c.2639C>T n.768C>T c.3698C>T c.2912C>T c.2947C>T c.2929C>T c.2763C>T (p.Thr921=) c.824C>T c.2186C>T (n.2186C>T) c.2618C>T c.2123C>T (n.2123C>T) c.2575C>T n.778C>T c.2529C>T (p.Thr843=) c.4377C>T (p.Thr1459=) n.589C>T n.2713C>T n.2248C>T c.354C>T (p.Thr118=) n.2098C>T c.4284C>T (p.Thr1428=) n.4665C>T | ClinVar dbSNP |
19 | g.11041415_11041420dup | CA2499225301 | SMARCA4 | c.4375_4380dup (p.Thr1460_Arg1461insSerThr) c.4279_4284dup (p.Thr1428_Arg1429insSerThr) c.4180_4185dup (p.Thr1395_Arg1396insSerThr) c.446_451dup c.406_411dup (p.Thr137_Arg138insSerThr) c.220_225dup (p.Thr75_Arg76insSerThr) n.2520_2525dup c.2773_2778dup (p.Thr926_Arg927insSerThr) c.1736_1741dup c.4276_4281dup (p.Thr1427_Arg1428insSerThr) c.2836_2841dup (p.Thr947_Arg948insSerThr) c.4189_4194dup (p.Thr1398_Arg1399insSerThr) c.2564_2569dup c.4285_4290dup (p.Thr1430_Arg1431insSerThr) c.2643_2648dup n.772_777dup c.3702_3707dup c.2916_2921dup c.2951_2956dup c.2933_2938dup c.2767_2772dup (p.Thr924_Arg925insSerThr) c.828_833dup c.2190_2195dup (n.2190_2195dup) c.2622_2627dup c.2127_2132dup (n.2127_2132dup) c.2579_2584dup n.782_787dup c.2533_2538dup (p.Thr846_Arg847insSerThr) c.4381_4386dup (p.Thr1462_Arg1463insSerThr) n.593_598dup n.2717_2722dup n.2252_2257dup c.358_363dup (p.Thr121_Arg122insSerThr) n.2102_2107dup c.4288_4293dup (p.Thr1431_Arg1432insSerThr) n.4669_4674dup | ClinVar dbSNP gnomAD v4 |
19 | g.11041412A= | CA2322734935 | SMARCA4 | c.4372A= (p.Thr1458=) c.4276A= (p.Thr1426=) c.4177A= (p.Thr1393=) c.443A= c.403A= (p.Thr135=) c.217A= (p.Thr73=) n.2517A= c.2770A= (p.Thr924=) c.1733A= c.4273A= (p.Thr1425=) c.2833A= (p.Thr945=) c.4186A= (p.Thr1396=) c.2561A= c.4282A= (p.Thr1428=) c.2640A= n.769A= c.3699A= c.2913A= c.2948A= c.2930A= c.2764A= (p.Thr922=) c.825A= c.2187A= (n.2187A=) c.2619A= c.2124A= (n.2124A=) c.2576A= n.779A= c.2530A= (p.Thr844=) c.4378A= (p.Thr1460=) n.590A= n.2714A= n.2249A= c.355A= (p.Thr119=) n.2099A= c.4285A= (p.Thr1429=) n.4666A= | |
19 | g.11041412A>C | CA404073494 | SMARCA4 | c.4372A>C (p.Thr1458Pro) c.4276A>C (p.Thr1426Pro) c.4177A>C (p.Thr1393Pro) c.443A>C c.403A>C (p.Thr135Pro) c.217A>C (p.Thr73Pro) n.2517A>C c.2770A>C (p.Thr924Pro) c.1733A>C c.4273A>C (p.Thr1425Pro) c.2833A>C (p.Thr945Pro) c.4186A>C (p.Thr1396Pro) c.2561A>C c.4282A>C (p.Thr1428Pro) c.2640A>C n.769A>C c.3699A>C c.2913A>C c.2948A>C c.2930A>C c.2764A>C (p.Thr922Pro) c.825A>C c.2187A>C (n.2187A>C) c.2619A>C c.2124A>C (n.2124A>C) c.2576A>C n.779A>C c.2530A>C (p.Thr844Pro) c.4378A>C (p.Thr1460Pro) n.590A>C n.2714A>C n.2249A>C c.355A>C (p.Thr119Pro) n.2099A>C c.4285A>C (p.Thr1429Pro) n.4666A>C | dbSNP |
19 | g.11041412A>G | CA404073499 | SMARCA4 | c.4372A>G (p.Thr1458Ala) c.4276A>G (p.Thr1426Ala) c.4177A>G (p.Thr1393Ala) c.443A>G c.403A>G (p.Thr135Ala) c.217A>G (p.Thr73Ala) n.2517A>G c.2770A>G (p.Thr924Ala) c.1733A>G c.4273A>G (p.Thr1425Ala) c.2833A>G (p.Thr945Ala) c.4186A>G (p.Thr1396Ala) c.2561A>G c.4282A>G (p.Thr1428Ala) c.2640A>G n.769A>G c.3699A>G c.2913A>G c.2948A>G c.2930A>G c.2764A>G (p.Thr922Ala) c.825A>G c.2187A>G (n.2187A>G) c.2619A>G c.2124A>G (n.2124A>G) c.2576A>G n.779A>G c.2530A>G (p.Thr844Ala) c.4378A>G (p.Thr1460Ala) n.590A>G n.2714A>G n.2249A>G c.355A>G (p.Thr119Ala) n.2099A>G c.4285A>G (p.Thr1429Ala) n.4666A>G | ClinVar dbSNP |
19 | g.11041412A>T | CA404073501 | SMARCA4 | c.4372A>T (p.Thr1458Ser) c.4276A>T (p.Thr1426Ser) c.4177A>T (p.Thr1393Ser) c.443A>T c.403A>T (p.Thr135Ser) c.217A>T (p.Thr73Ser) n.2517A>T c.2770A>T (p.Thr924Ser) c.1733A>T c.4273A>T (p.Thr1425Ser) c.2833A>T (p.Thr945Ser) c.4186A>T (p.Thr1396Ser) c.2561A>T c.4282A>T (p.Thr1428Ser) c.2640A>T n.769A>T c.3699A>T c.2913A>T c.2948A>T c.2930A>T c.2764A>T (p.Thr922Ser) c.825A>T c.2187A>T (n.2187A>T) c.2619A>T c.2124A>T (n.2124A>T) c.2576A>T n.779A>T c.2530A>T (p.Thr844Ser) c.4378A>T (p.Thr1460Ser) n.590A>T n.2714A>T n.2249A>T c.355A>T (p.Thr119Ser) n.2099A>T c.4285A>T (p.Thr1429Ser) n.4666A>T | dbSNP |
19 | g.11041413C>A | CA404073505 | SMARCA4 | c.4373C>A (p.Thr1458Asn) c.4277C>A (p.Thr1426Asn) c.4178C>A (p.Thr1393Asn) c.444C>A c.404C>A (p.Thr135Asn) c.218C>A (p.Thr73Asn) n.2518C>A c.2771C>A (p.Thr924Asn) c.1734C>A c.4274C>A (p.Thr1425Asn) c.2834C>A (p.Thr945Asn) c.4187C>A (p.Thr1396Asn) c.2562C>A c.4283C>A (p.Thr1428Asn) c.2641C>A n.770C>A c.3700C>A c.2914C>A c.2949C>A c.2931C>A c.2765C>A (p.Thr922Asn) c.826C>A c.2188C>A (n.2188C>A) c.2620C>A c.2125C>A (n.2125C>A) c.2577C>A n.780C>A c.2531C>A (p.Thr844Asn) c.4379C>A (p.Thr1460Asn) n.591C>A n.2715C>A n.2250C>A c.356C>A (p.Thr119Asn) n.2100C>A c.4286C>A (p.Thr1429Asn) n.4667C>A | ClinVar |
19 | g.11041413C= | CA2322734937 | SMARCA4 | c.4373C= (p.Thr1458=) c.4277C= (p.Thr1426=) c.4178C= (p.Thr1393=) c.444C= c.404C= (p.Thr135=) c.218C= (p.Thr73=) n.2518C= c.2771C= (p.Thr924=) c.1734C= c.4274C= (p.Thr1425=) c.2834C= (p.Thr945=) c.4187C= (p.Thr1396=) c.2562C= c.4283C= (p.Thr1428=) c.2641C= n.770C= c.3700C= c.2914C= c.2949C= c.2931C= c.2765C= (p.Thr922=) c.826C= c.2188C= (n.2188C=) c.2620C= c.2125C= (n.2125C=) c.2577C= n.780C= c.2531C= (p.Thr844=) c.4379C= (p.Thr1460=) n.591C= n.2715C= n.2250C= c.356C= (p.Thr119=) n.2100C= c.4286C= (p.Thr1429=) n.4667C= | |
19 | g.11041413C>G | CA404073508 | SMARCA4 | c.4373C>G (p.Thr1458Ser) c.4277C>G (p.Thr1426Ser) c.4178C>G (p.Thr1393Ser) c.444C>G c.404C>G (p.Thr135Ser) c.218C>G (p.Thr73Ser) n.2518C>G c.2771C>G (p.Thr924Ser) c.1734C>G c.4274C>G (p.Thr1425Ser) c.2834C>G (p.Thr945Ser) c.4187C>G (p.Thr1396Ser) c.2562C>G c.4283C>G (p.Thr1428Ser) c.2641C>G n.770C>G c.3700C>G c.2914C>G c.2949C>G c.2931C>G c.2765C>G (p.Thr922Ser) c.826C>G c.2188C>G (n.2188C>G) c.2620C>G c.2125C>G (n.2125C>G) c.2577C>G n.780C>G c.2531C>G (p.Thr844Ser) c.4379C>G (p.Thr1460Ser) n.591C>G n.2715C>G n.2250C>G c.356C>G (p.Thr119Ser) n.2100C>G c.4286C>G (p.Thr1429Ser) n.4667C>G | dbSNP |
19 | g.11041413C>T | CA404073512 | SMARCA4 | c.4373C>T (p.Thr1458Ile) c.4277C>T (p.Thr1426Ile) c.4178C>T (p.Thr1393Ile) c.444C>T c.404C>T (p.Thr135Ile) c.218C>T (p.Thr73Ile) n.2518C>T c.2771C>T (p.Thr924Ile) c.1734C>T c.4274C>T (p.Thr1425Ile) c.2834C>T (p.Thr945Ile) c.4187C>T (p.Thr1396Ile) c.2562C>T c.4283C>T (p.Thr1428Ile) c.2641C>T n.770C>T c.3700C>T c.2914C>T c.2949C>T c.2931C>T c.2765C>T (p.Thr922Ile) c.826C>T c.2188C>T (n.2188C>T) c.2620C>T c.2125C>T (n.2125C>T) c.2577C>T n.780C>T c.2531C>T (p.Thr844Ile) c.4379C>T (p.Thr1460Ile) n.591C>T n.2715C>T n.2250C>T c.356C>T (p.Thr119Ile) n.2100C>T c.4286C>T (p.Thr1429Ile) n.4667C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.11041414C>A | CA505743845 | SMARCA4 | c.4374C>A (p.Thr1458=) c.4278C>A (p.Thr1426=) c.4179C>A (p.Thr1393=) c.445C>A c.405C>A (p.Thr135=) c.219C>A (p.Thr73=) n.2519C>A c.2772C>A (p.Thr924=) c.1735C>A c.4275C>A (p.Thr1425=) c.2835C>A (p.Thr945=) c.4188C>A (p.Thr1396=) c.2563C>A c.4284C>A (p.Thr1428=) c.2642C>A n.771C>A c.3701C>A c.2915C>A c.2950C>A c.2932C>A c.2766C>A (p.Thr922=) c.827C>A c.2189C>A (n.2189C>A) c.2621C>A c.2126C>A (n.2126C>A) c.2578C>A n.781C>A c.2532C>A (p.Thr844=) c.4380C>A (p.Thr1460=) n.592C>A n.2716C>A n.2251C>A c.357C>A (p.Thr119=) n.2101C>A c.4287C>A (p.Thr1429=) n.4668C>A | dbSNP |
19 | g.11041414C>G | CA505743846 | SMARCA4 | c.4374C>G (p.Thr1458=) c.4278C>G (p.Thr1426=) c.4179C>G (p.Thr1393=) c.445C>G c.405C>G (p.Thr135=) c.219C>G (p.Thr73=) n.2519C>G c.2772C>G (p.Thr924=) c.1735C>G c.4275C>G (p.Thr1425=) c.2835C>G (p.Thr945=) c.4188C>G (p.Thr1396=) c.2563C>G c.4284C>G (p.Thr1428=) c.2642C>G n.771C>G c.3701C>G c.2915C>G c.2950C>G c.2932C>G c.2766C>G (p.Thr922=) c.827C>G c.2189C>G (n.2189C>G) c.2621C>G c.2126C>G (n.2126C>G) c.2578C>G n.781C>G c.2532C>G (p.Thr844=) c.4380C>G (p.Thr1460=) n.592C>G n.2716C>G n.2251C>G c.357C>G (p.Thr119=) n.2101C>G c.4287C>G (p.Thr1429=) n.4668C>G | dbSNP |
19 | g.11041414C>T | CA505743847 | SMARCA4 | c.4374C>T (p.Thr1458=) c.4278C>T (p.Thr1426=) c.4179C>T (p.Thr1393=) c.445C>T c.405C>T (p.Thr135=) c.219C>T (p.Thr73=) n.2519C>T c.2772C>T (p.Thr924=) c.1735C>T c.4275C>T (p.Thr1425=) c.2835C>T (p.Thr945=) c.4188C>T (p.Thr1396=) c.2563C>T c.4284C>T (p.Thr1428=) c.2642C>T n.771C>T c.3701C>T c.2915C>T c.2950C>T c.2932C>T c.2766C>T (p.Thr922=) c.827C>T c.2189C>T (n.2189C>T) c.2621C>T c.2126C>T (n.2126C>T) c.2578C>T n.781C>T c.2532C>T (p.Thr844=) c.4380C>T (p.Thr1460=) n.592C>T n.2716C>T n.2251C>T c.357C>T (p.Thr119=) n.2101C>T c.4287C>T (p.Thr1429=) n.4668C>T | dbSNP |
19 | g.11041415A>C | CA404073515 | SMARCA4 | c.4375A>C (p.Ser1459Arg) c.4279A>C (p.Ser1427Arg) c.4180A>C (p.Ser1394Arg) c.446A>C c.406A>C (p.Ser136Arg) c.220A>C (p.Ser74Arg) n.2520A>C c.2773A>C (p.Ser925Arg) c.1736A>C c.4276A>C (p.Ser1426Arg) c.2836A>C (p.Ser946Arg) c.4189A>C (p.Ser1397Arg) c.2564A>C c.4285A>C (p.Ser1429Arg) c.2643A>C n.772A>C c.3702A>C c.2916A>C c.2951A>C c.2933A>C c.2767A>C (p.Ser923Arg) c.828A>C c.2190A>C (n.2190A>C) c.2622A>C c.2127A>C (n.2127A>C) c.2579A>C n.782A>C c.2533A>C (p.Ser845Arg) c.4381A>C (p.Ser1461Arg) n.593A>C n.2717A>C n.2252A>C c.358A>C (p.Ser120Arg) n.2102A>C c.4288A>C (p.Ser1430Arg) n.4669A>C | dbSNP |
19 | g.11041415A>G | CA404073529 | SMARCA4 | c.4375A>G (p.Ser1459Gly) c.4279A>G (p.Ser1427Gly) c.4180A>G (p.Ser1394Gly) c.446A>G c.406A>G (p.Ser136Gly) c.220A>G (p.Ser74Gly) n.2520A>G c.2773A>G (p.Ser925Gly) c.1736A>G c.4276A>G (p.Ser1426Gly) c.2836A>G (p.Ser946Gly) c.4189A>G (p.Ser1397Gly) c.2564A>G c.4285A>G (p.Ser1429Gly) c.2643A>G n.772A>G c.3702A>G c.2916A>G c.2951A>G c.2933A>G c.2767A>G (p.Ser923Gly) c.828A>G c.2190A>G (n.2190A>G) c.2622A>G c.2127A>G (n.2127A>G) c.2579A>G n.782A>G c.2533A>G (p.Ser845Gly) c.4381A>G (p.Ser1461Gly) n.593A>G n.2717A>G n.2252A>G c.358A>G (p.Ser120Gly) n.2102A>G c.4288A>G (p.Ser1430Gly) n.4669A>G | dbSNP |
19 | g.11041415A>T | CA404073526 | SMARCA4 | c.4375A>T (p.Ser1459Cys) c.4279A>T (p.Ser1427Cys) c.4180A>T (p.Ser1394Cys) c.446A>T c.406A>T (p.Ser136Cys) c.220A>T (p.Ser74Cys) n.2520A>T c.2773A>T (p.Ser925Cys) c.1736A>T c.4276A>T (p.Ser1426Cys) c.2836A>T (p.Ser946Cys) c.4189A>T (p.Ser1397Cys) c.2564A>T c.4285A>T (p.Ser1429Cys) c.2643A>T n.772A>T c.3702A>T c.2916A>T c.2951A>T c.2933A>T c.2767A>T (p.Ser923Cys) c.828A>T c.2190A>T (n.2190A>T) c.2622A>T c.2127A>T (n.2127A>T) c.2579A>T n.782A>T c.2533A>T (p.Ser845Cys) c.4381A>T (p.Ser1461Cys) n.593A>T n.2717A>T n.2252A>T c.358A>T (p.Ser120Cys) n.2102A>T c.4288A>T (p.Ser1430Cys) n.4669A>T | dbSNP |
19 | g.11041416G>A | CA404073535 | SMARCA4 | c.4376G>A (p.Ser1459Asn) c.4280G>A (p.Ser1427Asn) c.4181G>A (p.Ser1394Asn) c.447G>A c.407G>A (p.Ser136Asn) c.221G>A (p.Ser74Asn) n.2521G>A c.2774G>A (p.Ser925Asn) c.1737G>A c.4277G>A (p.Ser1426Asn) c.2837G>A (p.Ser946Asn) c.4190G>A (p.Ser1397Asn) c.2565G>A c.4286G>A (p.Ser1429Asn) c.2644G>A n.773G>A c.3703G>A c.2917G>A c.2952G>A c.2934G>A c.2768G>A (p.Ser923Asn) c.829G>A c.2191G>A (n.2191G>A) c.2623G>A c.2128G>A (n.2128G>A) c.2580G>A n.783G>A c.2534G>A (p.Ser845Asn) c.4382G>A (p.Ser1461Asn) n.594G>A n.2718G>A n.2253G>A c.359G>A (p.Ser120Asn) n.2103G>A c.4289G>A (p.Ser1430Asn) n.4670G>A | ClinVar dbSNP |
19 | g.11041416G>C | CA404073538 | SMARCA4 | c.4376G>C (p.Ser1459Thr) c.4280G>C (p.Ser1427Thr) c.4181G>C (p.Ser1394Thr) c.447G>C c.407G>C (p.Ser136Thr) c.221G>C (p.Ser74Thr) n.2521G>C c.2774G>C (p.Ser925Thr) c.1737G>C c.4277G>C (p.Ser1426Thr) c.2837G>C (p.Ser946Thr) c.4190G>C (p.Ser1397Thr) c.2565G>C c.4286G>C (p.Ser1429Thr) c.2644G>C n.773G>C c.3703G>C c.2917G>C c.2952G>C c.2934G>C c.2768G>C (p.Ser923Thr) c.829G>C c.2191G>C (n.2191G>C) c.2623G>C c.2128G>C (n.2128G>C) c.2580G>C n.783G>C c.2534G>C (p.Ser845Thr) c.4382G>C (p.Ser1461Thr) n.594G>C n.2718G>C n.2253G>C c.359G>C (p.Ser120Thr) n.2103G>C c.4289G>C (p.Ser1430Thr) n.4670G>C | dbSNP |
19 | g.11041416G= | CA2322734944 | SMARCA4 | c.4376G= (p.Ser1459=) c.4280G= (p.Ser1427=) c.4181G= (p.Ser1394=) c.447G= c.407G= (p.Ser136=) c.221G= (p.Ser74=) n.2521G= c.2774G= (p.Ser925=) c.1737G= c.4277G= (p.Ser1426=) c.2837G= (p.Ser946=) c.4190G= (p.Ser1397=) c.2565G= c.4286G= (p.Ser1429=) c.2644G= n.773G= c.3703G= c.2917G= c.2952G= c.2934G= c.2768G= (p.Ser923=) c.829G= c.2191G= (n.2191G=) c.2623G= c.2128G= (n.2128G=) c.2580G= n.783G= c.2534G= (p.Ser845=) c.4382G= (p.Ser1461=) n.594G= n.2718G= n.2253G= c.359G= (p.Ser120=) n.2103G= c.4289G= (p.Ser1430=) n.4670G= | |
19 | g.11041416G>T | CA404073544 | SMARCA4 | c.4376G>T (p.Ser1459Ile) c.4280G>T (p.Ser1427Ile) c.4181G>T (p.Ser1394Ile) c.447G>T c.407G>T (p.Ser136Ile) c.221G>T (p.Ser74Ile) n.2521G>T c.2774G>T (p.Ser925Ile) c.1737G>T c.4277G>T (p.Ser1426Ile) c.2837G>T (p.Ser946Ile) c.4190G>T (p.Ser1397Ile) c.2565G>T c.4286G>T (p.Ser1429Ile) c.2644G>T n.773G>T c.3703G>T c.2917G>T c.2952G>T c.2934G>T c.2768G>T (p.Ser923Ile) c.829G>T c.2191G>T (n.2191G>T) c.2623G>T c.2128G>T (n.2128G>T) c.2580G>T n.783G>T c.2534G>T (p.Ser845Ile) c.4382G>T (p.Ser1461Ile) n.594G>T n.2718G>T n.2253G>T c.359G>T (p.Ser120Ile) n.2103G>T c.4289G>T (p.Ser1430Ile) n.4670G>T | dbSNP |
19 | g.11041417C>A | CA404073550 | SMARCA4 | c.4377C>A (p.Ser1459Arg) c.4281C>A (p.Ser1427Arg) c.4182C>A (p.Ser1394Arg) c.448C>A c.408C>A (p.Ser136Arg) c.222C>A (p.Ser74Arg) n.2522C>A c.2775C>A (p.Ser925Arg) c.1738C>A c.4278C>A (p.Ser1426Arg) c.2838C>A (p.Ser946Arg) c.4191C>A (p.Ser1397Arg) c.2566C>A c.4287C>A (p.Ser1429Arg) c.2645C>A n.774C>A c.3704C>A c.2918C>A c.2953C>A c.2935C>A c.2769C>A (p.Ser923Arg) c.830C>A c.2192C>A (n.2192C>A) c.2624C>A c.2129C>A (n.2129C>A) c.2581C>A n.784C>A c.2535C>A (p.Ser845Arg) c.4383C>A (p.Ser1461Arg) n.595C>A n.2719C>A n.2254C>A c.360C>A (p.Ser120Arg) n.2104C>A c.4290C>A (p.Ser1430Arg) n.4671C>A | dbSNP |
19 | g.11041417C= | CA2322734948 | SMARCA4 | c.4377C= (p.Ser1459=) c.4281C= (p.Ser1427=) c.4182C= (p.Ser1394=) c.448C= c.408C= (p.Ser136=) c.222C= (p.Ser74=) n.2522C= c.2775C= (p.Ser925=) c.1738C= c.4278C= (p.Ser1426=) c.2838C= (p.Ser946=) c.4191C= (p.Ser1397=) c.2566C= c.4287C= (p.Ser1429=) c.2645C= n.774C= c.3704C= c.2918C= c.2953C= c.2935C= c.2769C= (p.Ser923=) c.830C= c.2192C= (n.2192C=) c.2624C= c.2129C= (n.2129C=) c.2581C= n.784C= c.2535C= (p.Ser845=) c.4383C= (p.Ser1461=) n.595C= n.2719C= n.2254C= c.360C= (p.Ser120=) n.2104C= c.4290C= (p.Ser1430=) n.4671C= | |
19 | g.11041417C>G | CA404073554 | SMARCA4 | c.4377C>G (p.Ser1459Arg) c.4281C>G (p.Ser1427Arg) c.4182C>G (p.Ser1394Arg) c.448C>G c.408C>G (p.Ser136Arg) c.222C>G (p.Ser74Arg) n.2522C>G c.2775C>G (p.Ser925Arg) c.1738C>G c.4278C>G (p.Ser1426Arg) c.2838C>G (p.Ser946Arg) c.4191C>G (p.Ser1397Arg) c.2566C>G c.4287C>G (p.Ser1429Arg) c.2645C>G n.774C>G c.3704C>G c.2918C>G c.2953C>G c.2935C>G c.2769C>G (p.Ser923Arg) c.830C>G c.2192C>G (n.2192C>G) c.2624C>G c.2129C>G (n.2129C>G) c.2581C>G n.784C>G c.2535C>G (p.Ser845Arg) c.4383C>G (p.Ser1461Arg) n.595C>G n.2719C>G n.2254C>G c.360C>G (p.Ser120Arg) n.2104C>G c.4290C>G (p.Ser1430Arg) n.4671C>G | dbSNP |
19 | g.11041417C>T | CA505743848 | SMARCA4 | c.4377C>T (p.Ser1459=) c.4281C>T (p.Ser1427=) c.4182C>T (p.Ser1394=) c.448C>T c.408C>T (p.Ser136=) c.222C>T (p.Ser74=) n.2522C>T c.2775C>T (p.Ser925=) c.1738C>T c.4278C>T (p.Ser1426=) c.2838C>T (p.Ser946=) c.4191C>T (p.Ser1397=) c.2566C>T c.4287C>T (p.Ser1429=) c.2645C>T n.774C>T c.3704C>T c.2918C>T c.2953C>T c.2935C>T c.2769C>T (p.Ser923=) c.830C>T c.2192C>T (n.2192C>T) c.2624C>T c.2129C>T (n.2129C>T) c.2581C>T n.784C>T c.2535C>T (p.Ser845=) c.4383C>T (p.Ser1461=) n.595C>T n.2719C>T n.2254C>T c.360C>T (p.Ser120=) n.2104C>T c.4290C>T (p.Ser1430=) n.4671C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.11041418A>C | CA404073566 | SMARCA4 | c.4378A>C (p.Thr1460Pro) c.4282A>C (p.Thr1428Pro) c.4183A>C (p.Thr1395Pro) c.449A>C c.409A>C (p.Thr137Pro) c.223A>C (p.Thr75Pro) n.2523A>C c.2776A>C (p.Thr926Pro) c.1739A>C c.4279A>C (p.Thr1427Pro) c.2839A>C (p.Thr947Pro) c.4192A>C (p.Thr1398Pro) c.2567A>C c.4288A>C (p.Thr1430Pro) c.2646A>C n.775A>C c.3705A>C c.2919A>C c.2954A>C c.2936A>C c.2770A>C (p.Thr924Pro) c.831A>C c.2193A>C (n.2193A>C) c.2625A>C c.2130A>C (n.2130A>C) c.2582A>C n.785A>C c.2536A>C (p.Thr846Pro) c.4384A>C (p.Thr1462Pro) n.596A>C n.2720A>C n.2255A>C c.361A>C (p.Thr121Pro) n.2105A>C c.4291A>C (p.Thr1431Pro) n.4672A>C | dbSNP |
19 | g.11041418A>G | CA404073568 | SMARCA4 | c.4378A>G (p.Thr1460Ala) c.4282A>G (p.Thr1428Ala) c.4183A>G (p.Thr1395Ala) c.449A>G c.409A>G (p.Thr137Ala) c.223A>G (p.Thr75Ala) n.2523A>G c.2776A>G (p.Thr926Ala) c.1739A>G c.4279A>G (p.Thr1427Ala) c.2839A>G (p.Thr947Ala) c.4192A>G (p.Thr1398Ala) c.2567A>G c.4288A>G (p.Thr1430Ala) c.2646A>G n.775A>G c.3705A>G c.2919A>G c.2954A>G c.2936A>G c.2770A>G (p.Thr924Ala) c.831A>G c.2193A>G (n.2193A>G) c.2625A>G c.2130A>G (n.2130A>G) c.2582A>G n.785A>G c.2536A>G (p.Thr846Ala) c.4384A>G (p.Thr1462Ala) n.596A>G n.2720A>G n.2255A>G c.361A>G (p.Thr121Ala) n.2105A>G c.4291A>G (p.Thr1431Ala) n.4672A>G | dbSNP |
19 | g.11041418A>T | CA404073558 | SMARCA4 | c.4378A>T (p.Thr1460Ser) c.4282A>T (p.Thr1428Ser) c.4183A>T (p.Thr1395Ser) c.449A>T c.409A>T (p.Thr137Ser) c.223A>T (p.Thr75Ser) n.2523A>T c.2776A>T (p.Thr926Ser) c.1739A>T c.4279A>T (p.Thr1427Ser) c.2839A>T (p.Thr947Ser) c.4192A>T (p.Thr1398Ser) c.2567A>T c.4288A>T (p.Thr1430Ser) c.2646A>T n.775A>T c.3705A>T c.2919A>T c.2954A>T c.2936A>T c.2770A>T (p.Thr924Ser) c.831A>T c.2193A>T (n.2193A>T) c.2625A>T c.2130A>T (n.2130A>T) c.2582A>T n.785A>T c.2536A>T (p.Thr846Ser) c.4384A>T (p.Thr1462Ser) n.596A>T n.2720A>T n.2255A>T c.361A>T (p.Thr121Ser) n.2105A>T c.4291A>T (p.Thr1431Ser) n.4672A>T | dbSNP |
19 | g.11041419C>A | CA404073575 | SMARCA4 | c.4379C>A (p.Thr1460Asn) c.4283C>A (p.Thr1428Asn) c.4184C>A (p.Thr1395Asn) c.450C>A c.410C>A (p.Thr137Asn) c.224C>A (p.Thr75Asn) n.2524C>A c.2777C>A (p.Thr926Asn) c.1740C>A c.4280C>A (p.Thr1427Asn) c.2840C>A (p.Thr947Asn) c.4193C>A (p.Thr1398Asn) c.2568C>A c.4289C>A (p.Thr1430Asn) c.2647C>A n.776C>A c.3706C>A c.2920C>A c.2955C>A c.2937C>A c.2771C>A (p.Thr924Asn) c.832C>A c.2194C>A (n.2194C>A) c.2626C>A c.2131C>A (n.2131C>A) c.2583C>A n.786C>A c.2537C>A (p.Thr846Asn) c.4385C>A (p.Thr1462Asn) n.597C>A n.2721C>A n.2256C>A c.362C>A (p.Thr121Asn) n.2106C>A c.4292C>A (p.Thr1431Asn) n.4673C>A | |
19 | g.11041419C>G | CA404073581 | SMARCA4 | c.4379C>G (p.Thr1460Ser) c.4283C>G (p.Thr1428Ser) c.4184C>G (p.Thr1395Ser) c.450C>G c.410C>G (p.Thr137Ser) c.224C>G (p.Thr75Ser) n.2524C>G c.2777C>G (p.Thr926Ser) c.1740C>G c.4280C>G (p.Thr1427Ser) c.2840C>G (p.Thr947Ser) c.4193C>G (p.Thr1398Ser) c.2568C>G c.4289C>G (p.Thr1430Ser) c.2647C>G n.776C>G c.3706C>G c.2920C>G c.2955C>G c.2937C>G c.2771C>G (p.Thr924Ser) c.832C>G c.2194C>G (n.2194C>G) c.2626C>G c.2131C>G (n.2131C>G) c.2583C>G n.786C>G c.2537C>G (p.Thr846Ser) c.4385C>G (p.Thr1462Ser) n.597C>G n.2721C>G n.2256C>G c.362C>G (p.Thr121Ser) n.2106C>G c.4292C>G (p.Thr1431Ser) n.4673C>G | dbSNP |
19 | g.11041419C>T | CA404073578 | SMARCA4 | c.4379C>T (p.Thr1460Ile) c.4283C>T (p.Thr1428Ile) c.4184C>T (p.Thr1395Ile) c.450C>T c.410C>T (p.Thr137Ile) c.224C>T (p.Thr75Ile) n.2524C>T c.2777C>T (p.Thr926Ile) c.1740C>T c.4280C>T (p.Thr1427Ile) c.2840C>T (p.Thr947Ile) c.4193C>T (p.Thr1398Ile) c.2568C>T c.4289C>T (p.Thr1430Ile) c.2647C>T n.776C>T c.3706C>T c.2920C>T c.2955C>T c.2937C>T c.2771C>T (p.Thr924Ile) c.832C>T c.2194C>T (n.2194C>T) c.2626C>T c.2131C>T (n.2131C>T) c.2583C>T n.786C>T c.2537C>T (p.Thr846Ile) c.4385C>T (p.Thr1462Ile) n.597C>T n.2721C>T n.2256C>T c.362C>T (p.Thr121Ile) n.2106C>T c.4292C>T (p.Thr1431Ile) n.4673C>T | dbSNP |
19 | g.11041420C>A | CA505743849 | SMARCA4 | c.4380C>A (p.Thr1460=) c.4284C>A (p.Thr1428=) c.4185C>A (p.Thr1395=) c.451C>A c.411C>A (p.Thr137=) c.225C>A (p.Thr75=) n.2525C>A c.2778C>A (p.Thr926=) c.1741C>A c.4281C>A (p.Thr1427=) c.2841C>A (p.Thr947=) c.4194C>A (p.Thr1398=) c.2569C>A c.4290C>A (p.Thr1430=) c.2648C>A n.777C>A c.3707C>A c.2921C>A c.2956C>A c.2938C>A c.2772C>A (p.Thr924=) c.833C>A c.2195C>A (n.2195C>A) c.2627C>A c.2132C>A (n.2132C>A) c.2584C>A n.787C>A c.2538C>A (p.Thr846=) c.4386C>A (p.Thr1462=) n.598C>A n.2722C>A n.2257C>A c.363C>A (p.Thr121=) n.2107C>A c.4293C>A (p.Thr1431=) n.4674C>A | dbSNP |
19 | g.11041420C>G | CA505743850 | SMARCA4 | c.4380C>G (p.Thr1460=) c.4284C>G (p.Thr1428=) c.4185C>G (p.Thr1395=) c.451C>G c.411C>G (p.Thr137=) c.225C>G (p.Thr75=) n.2525C>G c.2778C>G (p.Thr926=) c.1741C>G c.4281C>G (p.Thr1427=) c.2841C>G (p.Thr947=) c.4194C>G (p.Thr1398=) c.2569C>G c.4290C>G (p.Thr1430=) c.2648C>G n.777C>G c.3707C>G c.2921C>G c.2956C>G c.2938C>G c.2772C>G (p.Thr924=) c.833C>G c.2195C>G (n.2195C>G) c.2627C>G c.2132C>G (n.2132C>G) c.2584C>G n.787C>G c.2538C>G (p.Thr846=) c.4386C>G (p.Thr1462=) n.598C>G n.2722C>G n.2257C>G c.363C>G (p.Thr121=) n.2107C>G c.4293C>G (p.Thr1431=) n.4674C>G | ClinVar |
19 | g.11041420C>T | CA505743851 | SMARCA4 | c.4380C>T (p.Thr1460=) c.4284C>T (p.Thr1428=) c.4185C>T (p.Thr1395=) c.451C>T c.411C>T (p.Thr137=) c.225C>T (p.Thr75=) n.2525C>T c.2778C>T (p.Thr926=) c.1741C>T c.4281C>T (p.Thr1427=) c.2841C>T (p.Thr947=) c.4194C>T (p.Thr1398=) c.2569C>T c.4290C>T (p.Thr1430=) c.2648C>T n.777C>T c.3707C>T c.2921C>T c.2956C>T c.2938C>T c.2772C>T (p.Thr924=) c.833C>T c.2195C>T (n.2195C>T) c.2627C>T c.2132C>T (n.2132C>T) c.2584C>T n.787C>T c.2538C>T (p.Thr846=) c.4386C>T (p.Thr1462=) n.598C>T n.2722C>T n.2257C>T c.363C>T (p.Thr121=) n.2107C>T c.4293C>T (p.Thr1431=) n.4674C>T | ClinVar dbSNP |
19 | g.11041420_11041421insTGGGTGCTGGCTGTCCTATTTTACTACTATTGACCCTGAAGGCCATCGAGGAGGGCA | CA2582467156 | SMARCA4 | c.4380_4381insTGGGTGCTGGCTGTCCTATTTTACTACTATTGACCCTGAAGGCCATCGAGGAGGGCA c.4284_4285insTGGGTGCTGGCTGTCCTATTTTACTACTATTGACCCTGAAGGCCATCGAGGAGGGCA c.4185_4186insTGGGTGCTGGCTGTCCTATTTTACTACTATTGACCCTGAAGGCCATCGAGGAGGGCA c.451_452insTGGGTGCTGGCTGTCCTATTTTACTACTATTGACCCTGAAGGCCATCGAGGAGGGCA c.411_412insTGGGTGCTGGCTGTCCTATTTTACTACTATTGACCCTGAAGGCCATCGAGGAGGGCA c.225_226insTGGGTGCTGGCTGTCCTATTTTACTACTATTGACCCTGAAGGCCATCGAGGAGGGCA n.2525_2526insTGGGTGCTGGCTGTCCTATTTTACTACTATTGACCCTGAAGGCCATCGAGGAGGGCA c.2778_2779insTGGGTGCTGGCTGTCCTATTTTACTACTATTGACCCTGAAGGCCATCGAGGAGGGCA c.1741_1742insTGGGTGCTGGCTGTCCTATTTTACTACTATTGACCCTGAAGGCCATCGAGGAGGGCA c.4281_4282insTGGGTGCTGGCTGTCCTATTTTACTACTATTGACCCTGAAGGCCATCGAGGAGGGCA c.2841_2842insTGGGTGCTGGCTGTCCTATTTTACTACTATTGACCCTGAAGGCCATCGAGGAGGGCA c.4194_4195insTGGGTGCTGGCTGTCCTATTTTACTACTATTGACCCTGAAGGCCATCGAGGAGGGCA c.2569_2570insTGGGTGCTGGCTGTCCTATTTTACTACTATTGACCCTGAAGGCCATCGAGGAGGGCA c.4290_4291insTGGGTGCTGGCTGTCCTATTTTACTACTATTGACCCTGAAGGCCATCGAGGAGGGCA c.2648_2649insTGGGTGCTGGCTGTCCTATTTTACTACTATTGACCCTGAAGGCCATCGAGGAGGGCA n.777_778insTGGGTGCTGGCTGTCCTATTTTACTACTATTGACCCTGAAGGCCATCGAGGAGGGCA c.3707_3708insTGGGTGCTGGCTGTCCTATTTTACTACTATTGACCCTGAAGGCCATCGAGGAGGGCA c.2921_2922insTGGGTGCTGGCTGTCCTATTTTACTACTATTGACCCTGAAGGCCATCGAGGAGGGCA c.2956_2957insTGGGTGCTGGCTGTCCTATTTTACTACTATTGACCCTGAAGGCCATCGAGGAGGGCA c.2938_2939insTGGGTGCTGGCTGTCCTATTTTACTACTATTGACCCTGAAGGCCATCGAGGAGGGCA c.2772_2773insTGGGTGCTGGCTGTCCTATTTTACTACTATTGACCCTGAAGGCCATCGAGGAGGGCA c.833_834insTGGGTGCTGGCTGTCCTATTTTACTACTATTGACCCTGAAGGCCATCGAGGAGGGCA c.2195_2196insTGGGTGCTGGCTGTCCTATTTTACTACTATTGACCCTGAAGGCCATCGAGGAGGGCA (n.2195_2196insTGGGTGCTGGCTGTCCTATTTTACTACTATTGACCCTGAAGGCCATCGAGGAGGGCA) c.2627_2628insTGGGTGCTGGCTGTCCTATTTTACTACTATTGACCCTGAAGGCCATCGAGGAGGGCA c.2132_2133insTGGGTGCTGGCTGTCCTATTTTACTACTATTGACCCTGAAGGCCATCGAGGAGGGCA (n.2132_2133insTGGGTGCTGGCTGTCCTATTTTACTACTATTGACCCTGAAGGCCATCGAGGAGGGCA) c.2584_2585insTGGGTGCTGGCTGTCCTATTTTACTACTATTGACCCTGAAGGCCATCGAGGAGGGCA n.787_788insTGGGTGCTGGCTGTCCTATTTTACTACTATTGACCCTGAAGGCCATCGAGGAGGGCA c.2538_2539insTGGGTGCTGGCTGTCCTATTTTACTACTATTGACCCTGAAGGCCATCGAGGAGGGCA c.4386_4387insTGGGTGCTGGCTGTCCTATTTTACTACTATTGACCCTGAAGGCCATCGAGGAGGGCA n.598_599insTGGGTGCTGGCTGTCCTATTTTACTACTATTGACCCTGAAGGCCATCGAGGAGGGCA n.2722_2723insTGGGTGCTGGCTGTCCTATTTTACTACTATTGACCCTGAAGGCCATCGAGGAGGGCA n.2257_2258insTGGGTGCTGGCTGTCCTATTTTACTACTATTGACCCTGAAGGCCATCGAGGAGGGCA c.363_364insTGGGTGCTGGCTGTCCTATTTTACTACTATTGACCCTGAAGGCCATCGAGGAGGGCA n.2107_2108insTGGGTGCTGGCTGTCCTATTTTACTACTATTGACCCTGAAGGCCATCGAGGAGGGCA c.4293_4294insTGGGTGCTGGCTGTCCTATTTTACTACTATTGACCCTGAAGGCCATCGAGGAGGGCA n.4674_4675insTGGGTGCTGGCTGTCCTATTTTACTACTATTGACCCTGAAGGCCATCGAGGAGGGCA | gnomAD v4 |
19 | g.11041421C>A | CA404073585 | SMARCA4 | c.4381C>A (p.Arg1461Ser) c.4285C>A (p.Arg1429Ser) c.4186C>A (p.Arg1396Ser) c.452C>A c.412C>A (p.Arg138Ser) c.226C>A (p.Arg76Ser) n.2526C>A c.2779C>A (p.Arg927Ser) c.1742C>A c.4282C>A (p.Arg1428Ser) c.2842C>A (p.Arg948Ser) c.4195C>A (p.Arg1399Ser) c.2570C>A c.4291C>A (p.Arg1431Ser) c.2649C>A n.778C>A c.3708C>A c.2922C>A c.2957C>A c.2939C>A c.2773C>A (p.Arg925Ser) c.834C>A c.2196C>A (n.2196C>A) c.2628C>A c.2133C>A (n.2133C>A) c.2585C>A n.788C>A c.2539C>A (p.Arg847Ser) c.4387C>A (p.Arg1463Ser) n.599C>A n.2723C>A n.2258C>A c.364C>A (p.Arg122Ser) n.2108C>A c.4294C>A (p.Arg1432Ser) n.4675C>A | ClinVar dbSNP gnomAD v4 |
19 | g.11041421C= | CA2322734952 | SMARCA4 | c.4381C= (p.Arg1461=) c.4285C= (p.Arg1429=) c.4186C= (p.Arg1396=) c.452C= c.412C= (p.Arg138=) c.226C= (p.Arg76=) n.2526C= c.2779C= (p.Arg927=) c.1742C= c.4282C= (p.Arg1428=) c.2842C= (p.Arg948=) c.4195C= (p.Arg1399=) c.2570C= c.4291C= (p.Arg1431=) c.2649C= n.778C= c.3708C= c.2922C= c.2957C= c.2939C= c.2773C= (p.Arg925=) c.834C= c.2196C= (n.2196C=) c.2628C= c.2133C= (n.2133C=) c.2585C= n.788C= c.2539C= (p.Arg847=) c.4387C= (p.Arg1463=) n.599C= n.2723C= n.2258C= c.364C= (p.Arg122=) n.2108C= c.4294C= (p.Arg1432=) n.4675C= | |
19 | g.11041421C>G | CA404073589 | SMARCA4 | c.4381C>G (p.Arg1461Gly) c.4285C>G (p.Arg1429Gly) c.4186C>G (p.Arg1396Gly) c.452C>G c.412C>G (p.Arg138Gly) c.226C>G (p.Arg76Gly) n.2526C>G c.2779C>G (p.Arg927Gly) c.1742C>G c.4282C>G (p.Arg1428Gly) c.2842C>G (p.Arg948Gly) c.4195C>G (p.Arg1399Gly) c.2570C>G c.4291C>G (p.Arg1431Gly) c.2649C>G n.778C>G c.3708C>G c.2922C>G c.2957C>G c.2939C>G c.2773C>G (p.Arg925Gly) c.834C>G c.2196C>G (n.2196C>G) c.2628C>G c.2133C>G (n.2133C>G) c.2585C>G n.788C>G c.2539C>G (p.Arg847Gly) c.4387C>G (p.Arg1463Gly) n.599C>G n.2723C>G n.2258C>G c.364C>G (p.Arg122Gly) n.2108C>G c.4294C>G (p.Arg1432Gly) n.4675C>G | |
19 | g.11041421C>T | CA16615972 | SMARCA4 | c.4381C>T (p.Arg1461Cys) c.4285C>T (p.Arg1429Cys) c.4186C>T (p.Arg1396Cys) c.452C>T c.412C>T (p.Arg138Cys) c.226C>T (p.Arg76Cys) n.2526C>T c.2779C>T (p.Arg927Cys) c.1742C>T c.4282C>T (p.Arg1428Cys) c.2842C>T (p.Arg948Cys) c.4195C>T (p.Arg1399Cys) c.2570C>T c.4291C>T (p.Arg1431Cys) c.2649C>T n.778C>T c.3708C>T c.2922C>T c.2957C>T c.2939C>T c.2773C>T (p.Arg925Cys) c.834C>T c.2196C>T (n.2196C>T) c.2628C>T c.2133C>T (n.2133C>T) c.2585C>T n.788C>T c.2539C>T (p.Arg847Cys) c.4387C>T (p.Arg1463Cys) n.599C>T n.2723C>T n.2258C>T c.364C>T (p.Arg122Cys) n.2108C>T c.4294C>T (p.Arg1432Cys) n.4675C>T | ClinVar dbSNP gnomAD v4 |
19 | g.11041422G>A | CA404073593 | SMARCA4 | c.4382G>A (p.Arg1461His) c.4286G>A (p.Arg1429His) c.4187G>A (p.Arg1396His) c.453G>A c.413G>A (p.Arg138His) c.227G>A (p.Arg76His) n.2527G>A c.2780G>A (p.Arg927His) c.1743G>A c.4283G>A (p.Arg1428His) c.2843G>A (p.Arg948His) c.4196G>A (p.Arg1399His) c.2571G>A c.4292G>A (p.Arg1431His) c.2650G>A n.779G>A c.3709G>A c.2923G>A c.2958G>A c.2940G>A c.2774G>A (p.Arg925His) c.835G>A c.2197G>A (n.2197G>A) c.2629G>A c.2134G>A (n.2134G>A) c.2586G>A n.789G>A c.2540G>A (p.Arg847His) c.4388G>A (p.Arg1463His) n.600G>A n.2724G>A n.2259G>A c.365G>A (p.Arg122His) n.2109G>A c.4295G>A (p.Arg1432His) n.4676G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.11041422G>C | CA404073594 | SMARCA4 | c.4382G>C (p.Arg1461Pro) c.4286G>C (p.Arg1429Pro) c.4187G>C (p.Arg1396Pro) c.453G>C c.413G>C (p.Arg138Pro) c.227G>C (p.Arg76Pro) n.2527G>C c.2780G>C (p.Arg927Pro) c.1743G>C c.4283G>C (p.Arg1428Pro) c.2843G>C (p.Arg948Pro) c.4196G>C (p.Arg1399Pro) c.2571G>C c.4292G>C (p.Arg1431Pro) c.2650G>C n.779G>C c.3709G>C c.2923G>C c.2958G>C c.2940G>C c.2774G>C (p.Arg925Pro) c.835G>C c.2197G>C (n.2197G>C) c.2629G>C c.2134G>C (n.2134G>C) c.2586G>C n.789G>C c.2540G>C (p.Arg847Pro) c.4388G>C (p.Arg1463Pro) n.600G>C n.2724G>C n.2259G>C c.365G>C (p.Arg122Pro) n.2109G>C c.4295G>C (p.Arg1432Pro) n.4676G>C | dbSNP gnomAD v2 gnomAD v4 |
19 | g.11041422G= | CA2322734953 | SMARCA4 | c.4382G= (p.Arg1461=) c.4286G= (p.Arg1429=) c.4187G= (p.Arg1396=) c.453G= c.413G= (p.Arg138=) c.227G= (p.Arg76=) n.2527G= c.2780G= (p.Arg927=) c.1743G= c.4283G= (p.Arg1428=) c.2843G= (p.Arg948=) c.4196G= (p.Arg1399=) c.2571G= c.4292G= (p.Arg1431=) c.2650G= n.779G= c.3709G= c.2923G= c.2958G= c.2940G= c.2774G= (p.Arg925=) c.835G= c.2197G= (n.2197G=) c.2629G= c.2134G= (n.2134G=) c.2586G= n.789G= c.2540G= (p.Arg847=) c.4388G= (p.Arg1463=) n.600G= n.2724G= n.2259G= c.365G= (p.Arg122=) n.2109G= c.4295G= (p.Arg1432=) n.4676G= | |
19 | g.11041422G>T | CA404073597 | SMARCA4 | c.4382G>T (p.Arg1461Leu) c.4286G>T (p.Arg1429Leu) c.4187G>T (p.Arg1396Leu) c.453G>T c.413G>T (p.Arg138Leu) c.227G>T (p.Arg76Leu) n.2527G>T c.2780G>T (p.Arg927Leu) c.1743G>T c.4283G>T (p.Arg1428Leu) c.2843G>T (p.Arg948Leu) c.4196G>T (p.Arg1399Leu) c.2571G>T c.4292G>T (p.Arg1431Leu) c.2650G>T n.779G>T c.3709G>T c.2923G>T c.2958G>T c.2940G>T c.2774G>T (p.Arg925Leu) c.835G>T c.2197G>T (n.2197G>T) c.2629G>T c.2134G>T (n.2134G>T) c.2586G>T n.789G>T c.2540G>T (p.Arg847Leu) c.4388G>T (p.Arg1463Leu) n.600G>T n.2724G>T n.2259G>T c.365G>T (p.Arg122Leu) n.2109G>T c.4295G>T (p.Arg1432Leu) n.4676G>T | dbSNP gnomAD v4 |
19 | g.11041424_11041426del | CA2697556286 | SMARCA4 | c.4384_4386del (p.Ser1462del) c.4288_4290del (p.Ser1430del) c.4189_4191del (p.Ser1397del) c.455_457del c.415_417del (p.Ser139del) c.229_231del (p.Ser77del) n.2529_2531del c.2782_2784del (p.Ser928del) c.1745_1747del c.4285_4287del (p.Ser1429del) c.2845_2847del (p.Ser949del) c.4198_4200del (p.Ser1400del) c.2573_2575del c.4294_4296del (p.Ser1432del) c.2652_2654del n.781_783del c.3711_3713del c.2925_2927del c.2960_2962del c.2942_2944del c.2776_2778del (p.Ser926del) c.837_839del c.2199_2201del (n.2199_2201del) c.2631_2633del c.2136_2138del (n.2136_2138del) c.2588_2590del n.791_793del c.2542_2544del (p.Ser848del) c.4390_4392del (p.Ser1464del) n.602_604del n.2726_2728del n.2261_2263del c.367_369del (p.Ser123del) n.2111_2113del c.4297_4299del (p.Ser1433del) n.4678_4680del | ClinVar |
19 | g.11041423C>A | CA505743853 | SMARCA4 | c.4383C>A (p.Arg1461=) c.4287C>A (p.Arg1429=) c.4188C>A (p.Arg1396=) c.454C>A c.414C>A (p.Arg138=) c.228C>A (p.Arg76=) n.2528C>A c.2781C>A (p.Arg927=) c.1744C>A c.4284C>A (p.Arg1428=) c.2844C>A (p.Arg948=) c.4197C>A (p.Arg1399=) c.2572C>A c.4293C>A (p.Arg1431=) c.2651C>A n.780C>A c.3710C>A c.2924C>A c.2959C>A c.2941C>A c.2775C>A (p.Arg925=) c.836C>A c.2198C>A (n.2198C>A) c.2630C>A c.2135C>A (n.2135C>A) c.2587C>A n.790C>A c.2541C>A (p.Arg847=) c.4389C>A (p.Arg1463=) n.601C>A n.2725C>A n.2260C>A c.366C>A (p.Arg122=) n.2110C>A c.4296C>A (p.Arg1432=) n.4677C>A | |
19 | g.11041423C= | CA2322734954 | SMARCA4 | c.4383C= (p.Arg1461=) c.4287C= (p.Arg1429=) c.4188C= (p.Arg1396=) c.454C= c.414C= (p.Arg138=) c.228C= (p.Arg76=) n.2528C= c.2781C= (p.Arg927=) c.1744C= c.4284C= (p.Arg1428=) c.2844C= (p.Arg948=) c.4197C= (p.Arg1399=) c.2572C= c.4293C= (p.Arg1431=) c.2651C= n.780C= c.3710C= c.2924C= c.2959C= c.2941C= c.2775C= (p.Arg925=) c.836C= c.2198C= (n.2198C=) c.2630C= c.2135C= (n.2135C=) c.2587C= n.790C= c.2541C= (p.Arg847=) c.4389C= (p.Arg1463=) n.601C= n.2725C= n.2260C= c.366C= (p.Arg122=) n.2110C= c.4296C= (p.Arg1432=) n.4677C= | |
19 | g.11041423C>G | CA505743855 | SMARCA4 | c.4383C>G (p.Arg1461=) c.4287C>G (p.Arg1429=) c.4188C>G (p.Arg1396=) c.454C>G c.414C>G (p.Arg138=) c.228C>G (p.Arg76=) n.2528C>G c.2781C>G (p.Arg927=) c.1744C>G c.4284C>G (p.Arg1428=) c.2844C>G (p.Arg948=) c.4197C>G (p.Arg1399=) c.2572C>G c.4293C>G (p.Arg1431=) c.2651C>G n.780C>G c.3710C>G c.2924C>G c.2959C>G c.2941C>G c.2775C>G (p.Arg925=) c.836C>G c.2198C>G (n.2198C>G) c.2630C>G c.2135C>G (n.2135C>G) c.2587C>G n.790C>G c.2541C>G (p.Arg847=) c.4389C>G (p.Arg1463=) n.601C>G n.2725C>G n.2260C>G c.366C>G (p.Arg122=) n.2110C>G c.4296C>G (p.Arg1432=) n.4677C>G | dbSNP |
19 | g.11041423C>T | CA9204691 | SMARCA4 | c.4383C>T (p.Arg1461=) c.4287C>T (p.Arg1429=) c.4188C>T (p.Arg1396=) c.454C>T c.414C>T (p.Arg138=) c.228C>T (p.Arg76=) n.2528C>T c.2781C>T (p.Arg927=) c.1744C>T c.4284C>T (p.Arg1428=) c.2844C>T (p.Arg948=) c.4197C>T (p.Arg1399=) c.2572C>T c.4293C>T (p.Arg1431=) c.2651C>T n.780C>T c.3710C>T c.2924C>T c.2959C>T c.2941C>T c.2775C>T (p.Arg925=) c.836C>T c.2198C>T (n.2198C>T) c.2630C>T c.2135C>T (n.2135C>T) c.2587C>T n.790C>T c.2541C>T (p.Arg847=) c.4389C>T (p.Arg1463=) n.601C>T n.2725C>T n.2260C>T c.366C>T (p.Arg122=) n.2110C>T c.4296C>T (p.Arg1432=) n.4677C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11041424A= | CA2322734955 | SMARCA4 | c.4384A= (p.Ser1462=) c.4288A= (p.Ser1430=) c.4189A= (p.Ser1397=) c.455A= c.415A= (p.Ser139=) c.229A= (p.Ser77=) n.2529A= c.2782A= (p.Ser928=) c.1745A= c.4285A= (p.Ser1429=) c.2845A= (p.Ser949=) c.4198A= (p.Ser1400=) c.2573A= c.4294A= (p.Ser1432=) c.2652A= n.781A= c.3711A= c.2925A= c.2960A= c.2942A= c.2776A= (p.Ser926=) c.837A= c.2199A= (n.2199A=) c.2631A= c.2136A= (n.2136A=) c.2588A= n.791A= c.2542A= (p.Ser848=) c.4390A= (p.Ser1464=) n.602A= n.2726A= n.2261A= c.367A= (p.Ser123=) n.2111A= c.4297A= (p.Ser1433=) n.4678A= | |
19 | g.11041424A>C | CA404073602 | SMARCA4 | c.4384A>C (p.Ser1462Arg) c.4288A>C (p.Ser1430Arg) c.4189A>C (p.Ser1397Arg) c.455A>C c.415A>C (p.Ser139Arg) c.229A>C (p.Ser77Arg) n.2529A>C c.2782A>C (p.Ser928Arg) c.1745A>C c.4285A>C (p.Ser1429Arg) c.2845A>C (p.Ser949Arg) c.4198A>C (p.Ser1400Arg) c.2573A>C c.4294A>C (p.Ser1432Arg) c.2652A>C n.781A>C c.3711A>C c.2925A>C c.2960A>C c.2942A>C c.2776A>C (p.Ser926Arg) c.837A>C c.2199A>C (n.2199A>C) c.2631A>C c.2136A>C (n.2136A>C) c.2588A>C n.791A>C c.2542A>C (p.Ser848Arg) c.4390A>C (p.Ser1464Arg) n.602A>C n.2726A>C n.2261A>C c.367A>C (p.Ser123Arg) n.2111A>C c.4297A>C (p.Ser1433Arg) n.4678A>C | dbSNP |
19 | g.11041424A>G | CA404073603 | SMARCA4 | c.4384A>G (p.Ser1462Gly) c.4288A>G (p.Ser1430Gly) c.4189A>G (p.Ser1397Gly) c.455A>G c.415A>G (p.Ser139Gly) c.229A>G (p.Ser77Gly) n.2529A>G c.2782A>G (p.Ser928Gly) c.1745A>G c.4285A>G (p.Ser1429Gly) c.2845A>G (p.Ser949Gly) c.4198A>G (p.Ser1400Gly) c.2573A>G c.4294A>G (p.Ser1432Gly) c.2652A>G n.781A>G c.3711A>G c.2925A>G c.2960A>G c.2942A>G c.2776A>G (p.Ser926Gly) c.837A>G c.2199A>G (n.2199A>G) c.2631A>G c.2136A>G (n.2136A>G) c.2588A>G n.791A>G c.2542A>G (p.Ser848Gly) c.4390A>G (p.Ser1464Gly) n.602A>G n.2726A>G n.2261A>G c.367A>G (p.Ser123Gly) n.2111A>G c.4297A>G (p.Ser1433Gly) n.4678A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.11041424A>T | CA404073606 | SMARCA4 | c.4384A>T (p.Ser1462Cys) c.4288A>T (p.Ser1430Cys) c.4189A>T (p.Ser1397Cys) c.455A>T c.415A>T (p.Ser139Cys) c.229A>T (p.Ser77Cys) n.2529A>T c.2782A>T (p.Ser928Cys) c.1745A>T c.4285A>T (p.Ser1429Cys) c.2845A>T (p.Ser949Cys) c.4198A>T (p.Ser1400Cys) c.2573A>T c.4294A>T (p.Ser1432Cys) c.2652A>T n.781A>T c.3711A>T c.2925A>T c.2960A>T c.2942A>T c.2776A>T (p.Ser926Cys) c.837A>T c.2199A>T (n.2199A>T) c.2631A>T c.2136A>T (n.2136A>T) c.2588A>T n.791A>T c.2542A>T (p.Ser848Cys) c.4390A>T (p.Ser1464Cys) n.602A>T n.2726A>T n.2261A>T c.367A>T (p.Ser123Cys) n.2111A>T c.4297A>T (p.Ser1433Cys) n.4678A>T | dbSNP |
19 | g.11041425G>A | CA404073619 | SMARCA4 | c.4385G>A (p.Ser1462Asn) c.4289G>A (p.Ser1430Asn) c.4190G>A (p.Ser1397Asn) c.456G>A c.416G>A (p.Ser139Asn) c.230G>A (p.Ser77Asn) n.2530G>A c.2783G>A (p.Ser928Asn) c.1746G>A c.4286G>A (p.Ser1429Asn) c.2846G>A (p.Ser949Asn) c.4199G>A (p.Ser1400Asn) c.2574G>A c.4295G>A (p.Ser1432Asn) c.2653G>A n.782G>A c.3712G>A c.2926G>A c.2961G>A c.2943G>A c.2777G>A (p.Ser926Asn) c.838G>A c.2200G>A (n.2200G>A) c.2632G>A c.2137G>A (n.2137G>A) c.2589G>A n.792G>A c.2543G>A (p.Ser848Asn) c.4391G>A (p.Ser1464Asn) n.603G>A n.2727G>A n.2262G>A c.368G>A (p.Ser123Asn) n.2112G>A c.4298G>A (p.Ser1433Asn) n.4679G>A | ClinVar dbSNP gnomAD v4 |
19 | g.11041425G>C | CA404073612 | SMARCA4 | c.4385G>C (p.Ser1462Thr) c.4289G>C (p.Ser1430Thr) c.4190G>C (p.Ser1397Thr) c.456G>C c.416G>C (p.Ser139Thr) c.230G>C (p.Ser77Thr) n.2530G>C c.2783G>C (p.Ser928Thr) c.1746G>C c.4286G>C (p.Ser1429Thr) c.2846G>C (p.Ser949Thr) c.4199G>C (p.Ser1400Thr) c.2574G>C c.4295G>C (p.Ser1432Thr) c.2653G>C n.782G>C c.3712G>C c.2926G>C c.2961G>C c.2943G>C c.2777G>C (p.Ser926Thr) c.838G>C c.2200G>C (n.2200G>C) c.2632G>C c.2137G>C (n.2137G>C) c.2589G>C n.792G>C c.2543G>C (p.Ser848Thr) c.4391G>C (p.Ser1464Thr) n.603G>C n.2727G>C n.2262G>C c.368G>C (p.Ser123Thr) n.2112G>C c.4298G>C (p.Ser1433Thr) n.4679G>C | |
19 | g.11041425G= | CA2322734957 | SMARCA4 | c.4385G= (p.Ser1462=) c.4289G= (p.Ser1430=) c.4190G= (p.Ser1397=) c.456G= c.416G= (p.Ser139=) c.230G= (p.Ser77=) n.2530G= c.2783G= (p.Ser928=) c.1746G= c.4286G= (p.Ser1429=) c.2846G= (p.Ser949=) c.4199G= (p.Ser1400=) c.2574G= c.4295G= (p.Ser1432=) c.2653G= n.782G= c.3712G= c.2926G= c.2961G= c.2943G= c.2777G= (p.Ser926=) c.838G= c.2200G= (n.2200G=) c.2632G= c.2137G= (n.2137G=) c.2589G= n.792G= c.2543G= (p.Ser848=) c.4391G= (p.Ser1464=) n.603G= n.2727G= n.2262G= c.368G= (p.Ser123=) n.2112G= c.4298G= (p.Ser1433=) n.4679G= | |
19 | g.11041425G>T | CA404073611 | SMARCA4 | c.4385G>T (p.Ser1462Ile) c.4289G>T (p.Ser1430Ile) c.4190G>T (p.Ser1397Ile) c.456G>T c.416G>T (p.Ser139Ile) c.230G>T (p.Ser77Ile) n.2530G>T c.2783G>T (p.Ser928Ile) c.1746G>T c.4286G>T (p.Ser1429Ile) c.2846G>T (p.Ser949Ile) c.4199G>T (p.Ser1400Ile) c.2574G>T c.4295G>T (p.Ser1432Ile) c.2653G>T n.782G>T c.3712G>T c.2926G>T c.2961G>T c.2943G>T c.2777G>T (p.Ser926Ile) c.838G>T c.2200G>T (n.2200G>T) c.2632G>T c.2137G>T (n.2137G>T) c.2589G>T n.792G>T c.2543G>T (p.Ser848Ile) c.4391G>T (p.Ser1464Ile) n.603G>T n.2727G>T n.2262G>T c.368G>T (p.Ser123Ile) n.2112G>T c.4298G>T (p.Ser1433Ile) n.4679G>T | |
19 | g.11041426C>A | CA305294372 | SMARCA4 | c.4386C>A (p.Ser1462Arg) c.4290C>A (p.Ser1430Arg) c.4191C>A (p.Ser1397Arg) c.457C>A c.417C>A (p.Ser139Arg) c.231C>A (p.Ser77Arg) n.2531C>A c.2784C>A (p.Ser928Arg) c.1747C>A c.4287C>A (p.Ser1429Arg) c.2847C>A (p.Ser949Arg) c.4200C>A (p.Ser1400Arg) c.2575C>A c.4296C>A (p.Ser1432Arg) c.2654C>A n.783C>A c.3713C>A c.2927C>A c.2962C>A c.2944C>A c.2778C>A (p.Ser926Arg) c.839C>A c.2201C>A (n.2201C>A) c.2633C>A c.2138C>A (n.2138C>A) c.2590C>A n.793C>A c.2544C>A (p.Ser848Arg) c.4392C>A (p.Ser1464Arg) n.604C>A n.2728C>A n.2263C>A c.369C>A (p.Ser123Arg) n.2113C>A c.4299C>A (p.Ser1433Arg) n.4680C>A | ClinVar dbSNP gnomAD v4 |
19 | g.11041426C= | CA2322734962 | SMARCA4 | c.4386C= (p.Ser1462=) c.4290C= (p.Ser1430=) c.4191C= (p.Ser1397=) c.457C= c.417C= (p.Ser139=) c.231C= (p.Ser77=) n.2531C= c.2784C= (p.Ser928=) c.1747C= c.4287C= (p.Ser1429=) c.2847C= (p.Ser949=) c.4200C= (p.Ser1400=) c.2575C= c.4296C= (p.Ser1432=) c.2654C= n.783C= c.3713C= c.2927C= c.2962C= c.2944C= c.2778C= (p.Ser926=) c.839C= c.2201C= (n.2201C=) c.2633C= c.2138C= (n.2138C=) c.2590C= n.793C= c.2544C= (p.Ser848=) c.4392C= (p.Ser1464=) n.604C= n.2728C= n.2263C= c.369C= (p.Ser123=) n.2113C= c.4299C= (p.Ser1433=) n.4680C= | |
19 | g.11041426C>G | CA404073625 | SMARCA4 | c.4386C>G (p.Ser1462Arg) c.4290C>G (p.Ser1430Arg) c.4191C>G (p.Ser1397Arg) c.457C>G c.417C>G (p.Ser139Arg) c.231C>G (p.Ser77Arg) n.2531C>G c.2784C>G (p.Ser928Arg) c.1747C>G c.4287C>G (p.Ser1429Arg) c.2847C>G (p.Ser949Arg) c.4200C>G (p.Ser1400Arg) c.2575C>G c.4296C>G (p.Ser1432Arg) c.2654C>G n.783C>G c.3713C>G c.2927C>G c.2962C>G c.2944C>G c.2778C>G (p.Ser926Arg) c.839C>G c.2201C>G (n.2201C>G) c.2633C>G c.2138C>G (n.2138C>G) c.2590C>G n.793C>G c.2544C>G (p.Ser848Arg) c.4392C>G (p.Ser1464Arg) n.604C>G n.2728C>G n.2263C>G c.369C>G (p.Ser123Arg) n.2113C>G c.4299C>G (p.Ser1433Arg) n.4680C>G | |
19 | g.11041426C>T | CA505743857 | SMARCA4 | c.4386C>T (p.Ser1462=) c.4290C>T (p.Ser1430=) c.4191C>T (p.Ser1397=) c.457C>T c.417C>T (p.Ser139=) c.231C>T (p.Ser77=) n.2531C>T c.2784C>T (p.Ser928=) c.1747C>T c.4287C>T (p.Ser1429=) c.2847C>T (p.Ser949=) c.4200C>T (p.Ser1400=) c.2575C>T c.4296C>T (p.Ser1432=) c.2654C>T n.783C>T c.3713C>T c.2927C>T c.2962C>T c.2944C>T c.2778C>T (p.Ser926=) c.839C>T c.2201C>T (n.2201C>T) c.2633C>T c.2138C>T (n.2138C>T) c.2590C>T n.793C>T c.2544C>T (p.Ser848=) c.4392C>T (p.Ser1464=) n.604C>T n.2728C>T n.2263C>T c.369C>T (p.Ser123=) n.2113C>T c.4299C>T (p.Ser1433=) n.4680C>T | ClinVar dbSNP |
19 | g.11041427C>A | CA404073628 | SMARCA4 | c.4387C>A (p.Arg1463Ser) c.4291C>A (p.Arg1431Ser) c.4192C>A (p.Arg1398Ser) c.458C>A c.418C>A (p.Arg140Ser) c.232C>A (p.Arg78Ser) n.2532C>A c.2785C>A (p.Arg929Ser) c.1748C>A c.4288C>A (p.Arg1430Ser) c.2848C>A (p.Arg950Ser) c.4201C>A (p.Arg1401Ser) c.2576C>A c.4297C>A (p.Arg1433Ser) c.2655C>A n.784C>A c.3714C>A c.2928C>A c.2963C>A c.2945C>A c.2779C>A (p.Arg927Ser) c.840C>A c.2202C>A (n.2202C>A) c.2634C>A c.2139C>A (n.2139C>A) c.2591C>A n.794C>A c.2545C>A (p.Arg849Ser) c.4393C>A (p.Arg1465Ser) n.605C>A n.2729C>A n.2264C>A c.370C>A (p.Arg124Ser) n.2114C>A c.4300C>A (p.Arg1434Ser) n.4681C>A | dbSNP |
19 | g.11041427C= | CA2322734968 | SMARCA4 | c.4387C= (p.Arg1463=) c.4291C= (p.Arg1431=) c.4192C= (p.Arg1398=) c.458C= c.418C= (p.Arg140=) c.232C= (p.Arg78=) n.2532C= c.2785C= (p.Arg929=) c.1748C= c.4288C= (p.Arg1430=) c.2848C= (p.Arg950=) c.4201C= (p.Arg1401=) c.2576C= c.4297C= (p.Arg1433=) c.2655C= n.784C= c.3714C= c.2928C= c.2963C= c.2945C= c.2779C= (p.Arg927=) c.840C= c.2202C= (n.2202C=) c.2634C= c.2139C= (n.2139C=) c.2591C= n.794C= c.2545C= (p.Arg849=) c.4393C= (p.Arg1465=) n.605C= n.2729C= n.2264C= c.370C= (p.Arg124=) n.2114C= c.4300C= (p.Arg1434=) n.4681C= | |
19 | g.11041427C>G | CA404073631 | SMARCA4 | c.4387C>G (p.Arg1463Gly) c.4291C>G (p.Arg1431Gly) c.4192C>G (p.Arg1398Gly) c.458C>G c.418C>G (p.Arg140Gly) c.232C>G (p.Arg78Gly) n.2532C>G c.2785C>G (p.Arg929Gly) c.1748C>G c.4288C>G (p.Arg1430Gly) c.2848C>G (p.Arg950Gly) c.4201C>G (p.Arg1401Gly) c.2576C>G c.4297C>G (p.Arg1433Gly) c.2655C>G n.784C>G c.3714C>G c.2928C>G c.2963C>G c.2945C>G c.2779C>G (p.Arg927Gly) c.840C>G c.2202C>G (n.2202C>G) c.2634C>G c.2139C>G (n.2139C>G) c.2591C>G n.794C>G c.2545C>G (p.Arg849Gly) c.4393C>G (p.Arg1465Gly) n.605C>G n.2729C>G n.2264C>G c.370C>G (p.Arg124Gly) n.2114C>G c.4300C>G (p.Arg1434Gly) n.4681C>G | ClinVar dbSNP |
19 | g.11041427C>T | CA162141 | SMARCA4 | c.4387C>T (p.Arg1463Cys) c.4291C>T (p.Arg1431Cys) c.4192C>T (p.Arg1398Cys) c.458C>T c.418C>T (p.Arg140Cys) c.232C>T (p.Arg78Cys) n.2532C>T c.2785C>T (p.Arg929Cys) c.1748C>T c.4288C>T (p.Arg1430Cys) c.2848C>T (p.Arg950Cys) c.4201C>T (p.Arg1401Cys) c.2576C>T c.4297C>T (p.Arg1433Cys) c.2655C>T n.784C>T c.3714C>T c.2928C>T c.2963C>T c.2945C>T c.2779C>T (p.Arg927Cys) c.840C>T c.2202C>T (n.2202C>T) c.2634C>T c.2139C>T (n.2139C>T) c.2591C>T n.794C>T c.2545C>T (p.Arg849Cys) c.4393C>T (p.Arg1465Cys) n.605C>T n.2729C>T n.2264C>T c.370C>T (p.Arg124Cys) n.2114C>T c.4300C>T (p.Arg1434Cys) n.4681C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11041428G>A | CA9204692 | SMARCA4 | c.4388G>A (p.Arg1463His) c.4292G>A (p.Arg1431His) c.4193G>A (p.Arg1398His) c.459G>A c.419G>A (p.Arg140His) c.233G>A (p.Arg78His) n.2533G>A c.2786G>A (p.Arg929His) c.1749G>A c.4289G>A (p.Arg1430His) c.2849G>A (p.Arg950His) c.4202G>A (p.Arg1401His) c.2577G>A c.4298G>A (p.Arg1433His) c.2656G>A n.785G>A c.3715G>A c.2929G>A c.2964G>A c.2946G>A c.2780G>A (p.Arg927His) c.841G>A c.2203G>A (n.2203G>A) c.2635G>A c.2140G>A (n.2140G>A) c.2592G>A n.795G>A c.2546G>A (p.Arg849His) c.4394G>A (p.Arg1465His) n.606G>A n.2730G>A n.2265G>A c.371G>A (p.Arg124His) n.2115G>A c.4301G>A (p.Arg1434His) n.4682G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11041428G>C | CA404073643 | SMARCA4 | c.4388G>C (p.Arg1463Pro) c.4292G>C (p.Arg1431Pro) c.4193G>C (p.Arg1398Pro) c.459G>C c.419G>C (p.Arg140Pro) c.233G>C (p.Arg78Pro) n.2533G>C c.2786G>C (p.Arg929Pro) c.1749G>C c.4289G>C (p.Arg1430Pro) c.2849G>C (p.Arg950Pro) c.4202G>C (p.Arg1401Pro) c.2577G>C c.4298G>C (p.Arg1433Pro) c.2656G>C n.785G>C c.3715G>C c.2929G>C c.2964G>C c.2946G>C c.2780G>C (p.Arg927Pro) c.841G>C c.2203G>C (n.2203G>C) c.2635G>C c.2140G>C (n.2140G>C) c.2592G>C n.795G>C c.2546G>C (p.Arg849Pro) c.4394G>C (p.Arg1465Pro) n.606G>C n.2730G>C n.2265G>C c.371G>C (p.Arg124Pro) n.2115G>C c.4301G>C (p.Arg1434Pro) n.4682G>C | dbSNP |
19 | g.11041428G= | CA2322734980 | SMARCA4 | c.4388G= (p.Arg1463=) c.4292G= (p.Arg1431=) c.4193G= (p.Arg1398=) c.459G= c.419G= (p.Arg140=) c.233G= (p.Arg78=) n.2533G= c.2786G= (p.Arg929=) c.1749G= c.4289G= (p.Arg1430=) c.2849G= (p.Arg950=) c.4202G= (p.Arg1401=) c.2577G= c.4298G= (p.Arg1433=) c.2656G= n.785G= c.3715G= c.2929G= c.2964G= c.2946G= c.2780G= (p.Arg927=) c.841G= c.2203G= (n.2203G=) c.2635G= c.2140G= (n.2140G=) c.2592G= n.795G= c.2546G= (p.Arg849=) c.4394G= (p.Arg1465=) n.606G= n.2730G= n.2265G= c.371G= (p.Arg124=) n.2115G= c.4301G= (p.Arg1434=) n.4682G= | |
19 | g.11041428G>T | CA404073646 | SMARCA4 | c.4388G>T (p.Arg1463Leu) c.4292G>T (p.Arg1431Leu) c.4193G>T (p.Arg1398Leu) c.459G>T c.419G>T (p.Arg140Leu) c.233G>T (p.Arg78Leu) n.2533G>T c.2786G>T (p.Arg929Leu) c.1749G>T c.4289G>T (p.Arg1430Leu) c.2849G>T (p.Arg950Leu) c.4202G>T (p.Arg1401Leu) c.2577G>T c.4298G>T (p.Arg1433Leu) c.2656G>T n.785G>T c.3715G>T c.2929G>T c.2964G>T c.2946G>T c.2780G>T (p.Arg927Leu) c.841G>T c.2203G>T (n.2203G>T) c.2635G>T c.2140G>T (n.2140G>T) c.2592G>T n.795G>T c.2546G>T (p.Arg849Leu) c.4394G>T (p.Arg1465Leu) n.606G>T n.2730G>T n.2265G>T c.371G>T (p.Arg124Leu) n.2115G>T c.4301G>T (p.Arg1434Leu) n.4682G>T | dbSNP gnomAD v4 |
19 | g.11041429C>A | CA505743860 | SMARCA4 | c.4389C>A (p.Arg1463=) c.4293C>A (p.Arg1431=) c.4194C>A (p.Arg1398=) c.460C>A c.420C>A (p.Arg140=) c.234C>A (p.Arg78=) n.2534C>A c.2787C>A (p.Arg929=) c.1750C>A c.4290C>A (p.Arg1430=) c.2850C>A (p.Arg950=) c.4203C>A (p.Arg1401=) c.2578C>A c.4299C>A (p.Arg1433=) c.2657C>A n.786C>A c.3716C>A c.2930C>A c.2965C>A c.2947C>A c.2781C>A (p.Arg927=) c.842C>A c.2204C>A (n.2204C>A) c.2636C>A c.2141C>A (n.2141C>A) c.2593C>A n.796C>A c.2547C>A (p.Arg849=) c.4395C>A (p.Arg1465=) n.607C>A n.2731C>A n.2266C>A c.372C>A (p.Arg124=) n.2116C>A c.4302C>A (p.Arg1434=) n.4683C>A | dbSNP |
19 | g.11041429C= | CA2322734985 | SMARCA4 | c.4389C= (p.Arg1463=) c.4293C= (p.Arg1431=) c.4194C= (p.Arg1398=) c.460C= c.420C= (p.Arg140=) c.234C= (p.Arg78=) n.2534C= c.2787C= (p.Arg929=) c.1750C= c.4290C= (p.Arg1430=) c.2850C= (p.Arg950=) c.4203C= (p.Arg1401=) c.2578C= c.4299C= (p.Arg1433=) c.2657C= n.786C= c.3716C= c.2930C= c.2965C= c.2947C= c.2781C= (p.Arg927=) c.842C= c.2204C= (n.2204C=) c.2636C= c.2141C= (n.2141C=) c.2593C= n.796C= c.2547C= (p.Arg849=) c.4395C= (p.Arg1465=) n.607C= n.2731C= n.2266C= c.372C= (p.Arg124=) n.2116C= c.4302C= (p.Arg1434=) n.4683C= | |
19 | g.11041429C>G | CA505743861 | SMARCA4 | c.4389C>G (p.Arg1463=) c.4293C>G (p.Arg1431=) c.4194C>G (p.Arg1398=) c.460C>G c.420C>G (p.Arg140=) c.234C>G (p.Arg78=) n.2534C>G c.2787C>G (p.Arg929=) c.1750C>G c.4290C>G (p.Arg1430=) c.2850C>G (p.Arg950=) c.4203C>G (p.Arg1401=) c.2578C>G c.4299C>G (p.Arg1433=) c.2657C>G n.786C>G c.3716C>G c.2930C>G c.2965C>G c.2947C>G c.2781C>G (p.Arg927=) c.842C>G c.2204C>G (n.2204C>G) c.2636C>G c.2141C>G (n.2141C>G) c.2593C>G n.796C>G c.2547C>G (p.Arg849=) c.4395C>G (p.Arg1465=) n.607C>G n.2731C>G n.2266C>G c.372C>G (p.Arg124=) n.2116C>G c.4302C>G (p.Arg1434=) n.4683C>G | dbSNP |
19 | g.11041429C>T | CA9204693 | SMARCA4 | c.4389C>T (p.Arg1463=) c.4293C>T (p.Arg1431=) c.4194C>T (p.Arg1398=) c.460C>T c.420C>T (p.Arg140=) c.234C>T (p.Arg78=) n.2534C>T c.2787C>T (p.Arg929=) c.1750C>T c.4290C>T (p.Arg1430=) c.2850C>T (p.Arg950=) c.4203C>T (p.Arg1401=) c.2578C>T c.4299C>T (p.Arg1433=) c.2657C>T n.786C>T c.3716C>T c.2930C>T c.2965C>T c.2947C>T c.2781C>T (p.Arg927=) c.842C>T c.2204C>T (n.2204C>T) c.2636C>T c.2141C>T (n.2141C>T) c.2593C>T n.796C>T c.2547C>T (p.Arg849=) c.4395C>T (p.Arg1465=) n.607C>T n.2731C>T n.2266C>T c.372C>T (p.Arg124=) n.2116C>T c.4302C>T (p.Arg1434=) n.4683C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11041430G>A | CA9204694 | SMARCA4 | c.4390G>A (p.Asp1464Asn) c.4294G>A (p.Asp1432Asn) c.4195G>A (p.Asp1399Asn) c.461G>A c.421G>A (p.Asp141Asn) c.235G>A (p.Asp79Asn) n.2535G>A c.2788G>A (p.Asp930Asn) c.1751G>A c.4291G>A (p.Asp1431Asn) c.2851G>A (p.Asp951Asn) c.4204G>A (p.Asp1402Asn) c.2579G>A c.4300G>A (p.Asp1434Asn) c.2658G>A n.787G>A c.3717G>A c.2931G>A c.2966G>A c.2948G>A c.2782G>A (p.Asp928Asn) c.843G>A c.2205G>A (n.2205G>A) c.2637G>A c.2142G>A (n.2142G>A) c.2594G>A n.797G>A c.2548G>A (p.Asp850Asn) c.4396G>A (p.Asp1466Asn) n.608G>A n.2732G>A n.2267G>A c.373G>A (p.Asp125Asn) n.2117G>A c.4303G>A (p.Asp1435Asn) n.4684G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11041430G>C | CA404073647 | SMARCA4 | c.4390G>C (p.Asp1464His) c.4294G>C (p.Asp1432His) c.4195G>C (p.Asp1399His) c.461G>C c.421G>C (p.Asp141His) c.235G>C (p.Asp79His) n.2535G>C c.2788G>C (p.Asp930His) c.1751G>C c.4291G>C (p.Asp1431His) c.2851G>C (p.Asp951His) c.4204G>C (p.Asp1402His) c.2579G>C c.4300G>C (p.Asp1434His) c.2658G>C n.787G>C c.3717G>C c.2931G>C c.2966G>C c.2948G>C c.2782G>C (p.Asp928His) c.843G>C c.2205G>C (n.2205G>C) c.2637G>C c.2142G>C (n.2142G>C) c.2594G>C n.797G>C c.2548G>C (p.Asp850His) c.4396G>C (p.Asp1466His) n.608G>C n.2732G>C n.2267G>C c.373G>C (p.Asp125His) n.2117G>C c.4303G>C (p.Asp1435His) n.4684G>C | dbSNP |
19 | g.11041430G= | CA2322734991 | SMARCA4 | c.4390G= (p.Asp1464=) c.4294G= (p.Asp1432=) c.4195G= (p.Asp1399=) c.461G= c.421G= (p.Asp141=) c.235G= (p.Asp79=) n.2535G= c.2788G= (p.Asp930=) c.1751G= c.4291G= (p.Asp1431=) c.2851G= (p.Asp951=) c.4204G= (p.Asp1402=) c.2579G= c.4300G= (p.Asp1434=) c.2658G= n.787G= c.3717G= c.2931G= c.2966G= c.2948G= c.2782G= (p.Asp928=) c.843G= c.2205G= (n.2205G=) c.2637G= c.2142G= (n.2142G=) c.2594G= n.797G= c.2548G= (p.Asp850=) c.4396G= (p.Asp1466=) n.608G= n.2732G= n.2267G= c.373G= (p.Asp125=) n.2117G= c.4303G= (p.Asp1435=) n.4684G= | |
19 | g.11041430G>T | CA404073649 | SMARCA4 | c.4390G>T (p.Asp1464Tyr) c.4294G>T (p.Asp1432Tyr) c.4195G>T (p.Asp1399Tyr) c.461G>T c.421G>T (p.Asp141Tyr) c.235G>T (p.Asp79Tyr) n.2535G>T c.2788G>T (p.Asp930Tyr) c.1751G>T c.4291G>T (p.Asp1431Tyr) c.2851G>T (p.Asp951Tyr) c.4204G>T (p.Asp1402Tyr) c.2579G>T c.4300G>T (p.Asp1434Tyr) c.2658G>T n.787G>T c.3717G>T c.2931G>T c.2966G>T c.2948G>T c.2782G>T (p.Asp928Tyr) c.843G>T c.2205G>T (n.2205G>T) c.2637G>T c.2142G>T (n.2142G>T) c.2594G>T n.797G>T c.2548G>T (p.Asp850Tyr) c.4396G>T (p.Asp1466Tyr) n.608G>T n.2732G>T n.2267G>T c.373G>T (p.Asp125Tyr) n.2117G>T c.4303G>T (p.Asp1435Tyr) n.4684G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.11041431A= | CA2322734995 | SMARCA4 | c.4391A= (p.Asp1464=) c.4295A= (p.Asp1432=) c.4196A= (p.Asp1399=) c.462A= c.422A= (p.Asp141=) c.236A= (p.Asp79=) n.2536A= c.2789A= (p.Asp930=) c.1752A= c.4292A= (p.Asp1431=) c.2852A= (p.Asp951=) c.4205A= (p.Asp1402=) c.2580A= c.4301A= (p.Asp1434=) c.2659A= n.788A= c.3718A= c.2932A= c.2967A= c.2949A= c.2783A= (p.Asp928=) c.844A= c.2206A= (n.2206A=) c.2638A= c.2143A= (n.2143A=) c.2595A= n.798A= c.2549A= (p.Asp850=) c.4397A= (p.Asp1466=) n.609A= n.2733A= n.2268A= c.374A= (p.Asp125=) n.2118A= c.4304A= (p.Asp1435=) n.4685A= | |
19 | g.11041431A>C | CA404073654 | SMARCA4 | c.4391A>C (p.Asp1464Ala) c.4295A>C (p.Asp1432Ala) c.4196A>C (p.Asp1399Ala) c.462A>C c.422A>C (p.Asp141Ala) c.236A>C (p.Asp79Ala) n.2536A>C c.2789A>C (p.Asp930Ala) c.1752A>C c.4292A>C (p.Asp1431Ala) c.2852A>C (p.Asp951Ala) c.4205A>C (p.Asp1402Ala) c.2580A>C c.4301A>C (p.Asp1434Ala) c.2659A>C n.788A>C c.3718A>C c.2932A>C c.2967A>C c.2949A>C c.2783A>C (p.Asp928Ala) c.844A>C c.2206A>C (n.2206A>C) c.2638A>C c.2143A>C (n.2143A>C) c.2595A>C n.798A>C c.2549A>C (p.Asp850Ala) c.4397A>C (p.Asp1466Ala) n.609A>C n.2733A>C n.2268A>C c.374A>C (p.Asp125Ala) n.2118A>C c.4304A>C (p.Asp1435Ala) n.4685A>C | gnomAD v4 |
19 | g.11041431A>G | CA404073656 | SMARCA4 | c.4391A>G (p.Asp1464Gly) c.4295A>G (p.Asp1432Gly) c.4196A>G (p.Asp1399Gly) c.462A>G c.422A>G (p.Asp141Gly) c.236A>G (p.Asp79Gly) n.2536A>G c.2789A>G (p.Asp930Gly) c.1752A>G c.4292A>G (p.Asp1431Gly) c.2852A>G (p.Asp951Gly) c.4205A>G (p.Asp1402Gly) c.2580A>G c.4301A>G (p.Asp1434Gly) c.2659A>G n.788A>G c.3718A>G c.2932A>G c.2967A>G c.2949A>G c.2783A>G (p.Asp928Gly) c.844A>G c.2206A>G (n.2206A>G) c.2638A>G c.2143A>G (n.2143A>G) c.2595A>G n.798A>G c.2549A>G (p.Asp850Gly) c.4397A>G (p.Asp1466Gly) n.609A>G n.2733A>G n.2268A>G c.374A>G (p.Asp125Gly) n.2118A>G c.4304A>G (p.Asp1435Gly) n.4685A>G | ClinVar dbSNP gnomAD v4 |
19 | g.11041431A>T | CA404073651 | SMARCA4 | c.4391A>T (p.Asp1464Val) c.4295A>T (p.Asp1432Val) c.4196A>T (p.Asp1399Val) c.462A>T c.422A>T (p.Asp141Val) c.236A>T (p.Asp79Val) n.2536A>T c.2789A>T (p.Asp930Val) c.1752A>T c.4292A>T (p.Asp1431Val) c.2852A>T (p.Asp951Val) c.4205A>T (p.Asp1402Val) c.2580A>T c.4301A>T (p.Asp1434Val) c.2659A>T n.788A>T c.3718A>T c.2932A>T c.2967A>T c.2949A>T c.2783A>T (p.Asp928Val) c.844A>T c.2206A>T (n.2206A>T) c.2638A>T c.2143A>T (n.2143A>T) c.2595A>T n.798A>T c.2549A>T (p.Asp850Val) c.4397A>T (p.Asp1466Val) n.609A>T n.2733A>T n.2268A>T c.374A>T (p.Asp125Val) n.2118A>T c.4304A>T (p.Asp1435Val) n.4685A>T | dbSNP |
19 | g.11041432C>A | CA9204695 | SMARCA4 | c.4392C>A (p.Asp1464Glu) c.4296C>A (p.Asp1432Glu) c.4197C>A (p.Asp1399Glu) c.463C>A c.423C>A (p.Asp141Glu) c.237C>A (p.Asp79Glu) n.2537C>A c.2790C>A (p.Asp930Glu) c.1753C>A c.4293C>A (p.Asp1431Glu) c.2853C>A (p.Asp951Glu) c.4206C>A (p.Asp1402Glu) c.2581C>A c.4302C>A (p.Asp1434Glu) c.2660C>A n.789C>A c.3719C>A c.2933C>A c.2968C>A c.2950C>A c.2784C>A (p.Asp928Glu) c.845C>A c.2207C>A (n.2207C>A) c.2639C>A c.2144C>A (n.2144C>A) c.2596C>A n.799C>A c.2550C>A (p.Asp850Glu) c.4398C>A (p.Asp1466Glu) n.610C>A n.2734C>A n.2269C>A c.375C>A (p.Asp125Glu) n.2119C>A c.4305C>A (p.Asp1435Glu) n.4686C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11041432C= | CA2322734997 | SMARCA4 | c.4392C= (p.Asp1464=) c.4296C= (p.Asp1432=) c.4197C= (p.Asp1399=) c.463C= c.423C= (p.Asp141=) c.237C= (p.Asp79=) n.2537C= c.2790C= (p.Asp930=) c.1753C= c.4293C= (p.Asp1431=) c.2853C= (p.Asp951=) c.4206C= (p.Asp1402=) c.2581C= c.4302C= (p.Asp1434=) c.2660C= n.789C= c.3719C= c.2933C= c.2968C= c.2950C= c.2784C= (p.Asp928=) c.845C= c.2207C= (n.2207C=) c.2639C= c.2144C= (n.2144C=) c.2596C= n.799C= c.2550C= (p.Asp850=) c.4398C= (p.Asp1466=) n.610C= n.2734C= n.2269C= c.375C= (p.Asp125=) n.2119C= c.4305C= (p.Asp1435=) n.4686C= | |
19 | g.11041432C>G | CA404073657 | SMARCA4 | c.4392C>G (p.Asp1464Glu) c.4296C>G (p.Asp1432Glu) c.4197C>G (p.Asp1399Glu) c.463C>G c.423C>G (p.Asp141Glu) c.237C>G (p.Asp79Glu) n.2537C>G c.2790C>G (p.Asp930Glu) c.1753C>G c.4293C>G (p.Asp1431Glu) c.2853C>G (p.Asp951Glu) c.4206C>G (p.Asp1402Glu) c.2581C>G c.4302C>G (p.Asp1434Glu) c.2660C>G n.789C>G c.3719C>G c.2933C>G c.2968C>G c.2950C>G c.2784C>G (p.Asp928Glu) c.845C>G c.2207C>G (n.2207C>G) c.2639C>G c.2144C>G (n.2144C>G) c.2596C>G n.799C>G c.2550C>G (p.Asp850Glu) c.4398C>G (p.Asp1466Glu) n.610C>G n.2734C>G n.2269C>G c.375C>G (p.Asp125Glu) n.2119C>G c.4305C>G (p.Asp1435Glu) n.4686C>G | dbSNP |
19 | g.11041432C>T | CA505743866 | SMARCA4 | c.4392C>T (p.Asp1464=) c.4296C>T (p.Asp1432=) c.4197C>T (p.Asp1399=) c.463C>T c.423C>T (p.Asp141=) c.237C>T (p.Asp79=) n.2537C>T c.2790C>T (p.Asp930=) c.1753C>T c.4293C>T (p.Asp1431=) c.2853C>T (p.Asp951=) c.4206C>T (p.Asp1402=) c.2581C>T c.4302C>T (p.Asp1434=) c.2660C>T n.789C>T c.3719C>T c.2933C>T c.2968C>T c.2950C>T c.2784C>T (p.Asp928=) c.845C>T c.2207C>T (n.2207C>T) c.2639C>T c.2144C>T (n.2144C>T) c.2596C>T n.799C>T c.2550C>T (p.Asp850=) c.4398C>T (p.Asp1466=) n.610C>T n.2734C>T n.2269C>T c.375C>T (p.Asp125=) n.2119C>T c.4305C>T (p.Asp1435=) n.4686C>T | dbSNP |
19 | g.11041433A= | CA2322734999 | SMARCA4 | c.4393A= (p.Lys1465=) c.4297A= (p.Lys1433=) c.4198A= (p.Lys1400=) c.464A= c.424A= (p.Lys142=) c.238A= (p.Lys80=) n.2538A= c.2791A= (p.Lys931=) c.1754A= c.4294A= (p.Lys1432=) c.2854A= (p.Lys952=) c.4207A= (p.Lys1403=) c.2582A= c.4303A= (p.Lys1435=) c.2661A= n.790A= c.3720A= c.2934A= c.2969A= c.2951A= c.2785A= (p.Lys929=) c.846A= c.2208A= (n.2208A=) c.2640A= c.2145A= (n.2145A=) c.2597A= n.800A= c.2551A= (p.Lys851=) c.4399A= (p.Lys1467=) n.611A= n.2735A= n.2270A= c.376A= (p.Lys126=) n.2120A= c.4306A= (p.Lys1436=) n.4687A= | |
19 | g.11041433A>C | CA404073660 | SMARCA4 | c.4393A>C (p.Lys1465Gln) c.4297A>C (p.Lys1433Gln) c.4198A>C (p.Lys1400Gln) c.464A>C c.424A>C (p.Lys142Gln) c.238A>C (p.Lys80Gln) n.2538A>C c.2791A>C (p.Lys931Gln) c.1754A>C c.4294A>C (p.Lys1432Gln) c.2854A>C (p.Lys952Gln) c.4207A>C (p.Lys1403Gln) c.2582A>C c.4303A>C (p.Lys1435Gln) c.2661A>C n.790A>C c.3720A>C c.2934A>C c.2969A>C c.2951A>C c.2785A>C (p.Lys929Gln) c.846A>C c.2208A>C (n.2208A>C) c.2640A>C c.2145A>C (n.2145A>C) c.2597A>C n.800A>C c.2551A>C (p.Lys851Gln) c.4399A>C (p.Lys1467Gln) n.611A>C n.2735A>C n.2270A>C c.376A>C (p.Lys126Gln) n.2120A>C c.4306A>C (p.Lys1436Gln) n.4687A>C | gnomAD v4 |
19 | g.11041433A>G | CA9204696 | SMARCA4 | c.4393A>G (p.Lys1465Glu) c.4297A>G (p.Lys1433Glu) c.4198A>G (p.Lys1400Glu) c.464A>G c.424A>G (p.Lys142Glu) c.238A>G (p.Lys80Glu) n.2538A>G c.2791A>G (p.Lys931Glu) c.1754A>G c.4294A>G (p.Lys1432Glu) c.2854A>G (p.Lys952Glu) c.4207A>G (p.Lys1403Glu) c.2582A>G c.4303A>G (p.Lys1435Glu) c.2661A>G n.790A>G c.3720A>G c.2934A>G c.2969A>G c.2951A>G c.2785A>G (p.Lys929Glu) c.846A>G c.2208A>G (n.2208A>G) c.2640A>G c.2145A>G (n.2145A>G) c.2597A>G n.800A>G c.2551A>G (p.Lys851Glu) c.4399A>G (p.Lys1467Glu) n.611A>G n.2735A>G n.2270A>G c.376A>G (p.Lys126Glu) n.2120A>G c.4306A>G (p.Lys1436Glu) n.4687A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11041433A>T | CA404073666 | SMARCA4 | c.4393A>T (p.Lys1465Ter) c.4297A>T (p.Lys1433Ter) c.4198A>T (p.Lys1400Ter) c.464A>T c.424A>T (p.Lys142Ter) c.238A>T (p.Lys80Ter) n.2538A>T c.2791A>T (p.Lys931Ter) c.1754A>T c.4294A>T (p.Lys1432Ter) c.2854A>T (p.Lys952Ter) c.4207A>T (p.Lys1403Ter) c.2582A>T c.4303A>T (p.Lys1435Ter) c.2661A>T n.790A>T c.3720A>T c.2934A>T c.2969A>T c.2951A>T c.2785A>T (p.Lys929Ter) c.846A>T c.2208A>T (n.2208A>T) c.2640A>T c.2145A>T (n.2145A>T) c.2597A>T n.800A>T c.2551A>T (p.Lys851Ter) c.4399A>T (p.Lys1467Ter) n.611A>T n.2735A>T n.2270A>T c.376A>T (p.Lys126Ter) n.2120A>T c.4306A>T (p.Lys1436Ter) n.4687A>T | dbSNP |
19 | g.11041434A= | CA2322735001 | SMARCA4 | c.4394A= (p.Lys1465=) c.4298A= (p.Lys1433=) c.4199A= (p.Lys1400=) c.465A= c.425A= (p.Lys142=) c.239A= (p.Lys80=) n.2539A= c.2792A= (p.Lys931=) c.1755A= c.4295A= (p.Lys1432=) c.2855A= (p.Lys952=) c.4208A= (p.Lys1403=) c.2583A= c.4304A= (p.Lys1435=) c.2662A= n.791A= c.3721A= c.2935A= c.2970A= c.2952A= c.2786A= (p.Lys929=) c.847A= c.2209A= (n.2209A=) c.2641A= c.2146A= (n.2146A=) c.2598A= n.801A= c.2552A= (p.Lys851=) c.4400A= (p.Lys1467=) n.612A= n.2736A= n.2271A= c.377A= (p.Lys126=) n.2121A= c.4307A= (p.Lys1436=) n.4688A= | |
19 | g.11041434A>C | CA404073668 | SMARCA4 | c.4394A>C (p.Lys1465Thr) c.4298A>C (p.Lys1433Thr) c.4199A>C (p.Lys1400Thr) c.465A>C c.425A>C (p.Lys142Thr) c.239A>C (p.Lys80Thr) n.2539A>C c.2792A>C (p.Lys931Thr) c.1755A>C c.4295A>C (p.Lys1432Thr) c.2855A>C (p.Lys952Thr) c.4208A>C (p.Lys1403Thr) c.2583A>C c.4304A>C (p.Lys1435Thr) c.2662A>C n.791A>C c.3721A>C c.2935A>C c.2970A>C c.2952A>C c.2786A>C (p.Lys929Thr) c.847A>C c.2209A>C (n.2209A>C) c.2641A>C c.2146A>C (n.2146A>C) c.2598A>C n.801A>C c.2552A>C (p.Lys851Thr) c.4400A>C (p.Lys1467Thr) n.612A>C n.2736A>C n.2271A>C c.377A>C (p.Lys126Thr) n.2121A>C c.4307A>C (p.Lys1436Thr) n.4688A>C | |
19 | g.11041434A>G | CA404073670 | SMARCA4 | c.4394A>G (p.Lys1465Arg) c.4298A>G (p.Lys1433Arg) c.4199A>G (p.Lys1400Arg) c.465A>G c.425A>G (p.Lys142Arg) c.239A>G (p.Lys80Arg) n.2539A>G c.2792A>G (p.Lys931Arg) c.1755A>G c.4295A>G (p.Lys1432Arg) c.2855A>G (p.Lys952Arg) c.4208A>G (p.Lys1403Arg) c.2583A>G c.4304A>G (p.Lys1435Arg) c.2662A>G n.791A>G c.3721A>G c.2935A>G c.2970A>G c.2952A>G c.2786A>G (p.Lys929Arg) c.847A>G c.2209A>G (n.2209A>G) c.2641A>G c.2146A>G (n.2146A>G) c.2598A>G n.801A>G c.2552A>G (p.Lys851Arg) c.4400A>G (p.Lys1467Arg) n.612A>G n.2736A>G n.2271A>G c.377A>G (p.Lys126Arg) n.2121A>G c.4307A>G (p.Lys1436Arg) n.4688A>G | ClinVar dbSNP |
19 | g.11041434A>T | CA404073671 | SMARCA4 | c.4394A>T (p.Lys1465Met) c.4298A>T (p.Lys1433Met) c.4199A>T (p.Lys1400Met) c.465A>T c.425A>T (p.Lys142Met) c.239A>T (p.Lys80Met) n.2539A>T c.2792A>T (p.Lys931Met) c.1755A>T c.4295A>T (p.Lys1432Met) c.2855A>T (p.Lys952Met) c.4208A>T (p.Lys1403Met) c.2583A>T c.4304A>T (p.Lys1435Met) c.2662A>T n.791A>T c.3721A>T c.2935A>T c.2970A>T c.2952A>T c.2786A>T (p.Lys929Met) c.847A>T c.2209A>T (n.2209A>T) c.2641A>T c.2146A>T (n.2146A>T) c.2598A>T n.801A>T c.2552A>T (p.Lys851Met) c.4400A>T (p.Lys1467Met) n.612A>T n.2736A>T n.2271A>T c.377A>T (p.Lys126Met) n.2121A>T c.4307A>T (p.Lys1436Met) n.4688A>T | dbSNP gnomAD v2 |
19 | g.11041435G>A | CA505743868 | SMARCA4 | c.4395G>A (p.Lys1465=) c.4299G>A (p.Lys1433=) c.4200G>A (p.Lys1400=) c.466G>A c.426G>A (p.Lys142=) c.240G>A (p.Lys80=) n.2540G>A c.2793G>A (p.Lys931=) c.1756G>A c.4296G>A (p.Lys1432=) c.2856G>A (p.Lys952=) c.4209G>A (p.Lys1403=) c.2584G>A c.4305G>A (p.Lys1435=) c.2663G>A n.792G>A c.3722G>A c.2936G>A c.2971G>A c.2953G>A c.2787G>A (p.Lys929=) c.848G>A c.2210G>A (n.2210G>A) c.2642G>A c.2147G>A (n.2147G>A) c.2599G>A n.802G>A c.2553G>A (p.Lys851=) c.4401G>A (p.Lys1467=) n.613G>A n.2737G>A n.2272G>A c.378G>A (p.Lys126=) n.2122G>A c.4308G>A (p.Lys1436=) n.4689G>A | |
19 | g.11041435G>C | CA404073675 | SMARCA4 | c.4395G>C (p.Lys1465Asn) c.4299G>C (p.Lys1433Asn) c.4200G>C (p.Lys1400Asn) c.466G>C c.426G>C (p.Lys142Asn) c.240G>C (p.Lys80Asn) n.2540G>C c.2793G>C (p.Lys931Asn) c.1756G>C c.4296G>C (p.Lys1432Asn) c.2856G>C (p.Lys952Asn) c.4209G>C (p.Lys1403Asn) c.2584G>C c.4305G>C (p.Lys1435Asn) c.2663G>C n.792G>C c.3722G>C c.2936G>C c.2971G>C c.2953G>C c.2787G>C (p.Lys929Asn) c.848G>C c.2210G>C (n.2210G>C) c.2642G>C c.2147G>C (n.2147G>C) c.2599G>C n.802G>C c.2553G>C (p.Lys851Asn) c.4401G>C (p.Lys1467Asn) n.613G>C n.2737G>C n.2272G>C c.378G>C (p.Lys126Asn) n.2122G>C c.4308G>C (p.Lys1436Asn) n.4689G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.11041435G= | CA2322735007 | SMARCA4 | c.4395G= (p.Lys1465=) c.4299G= (p.Lys1433=) c.4200G= (p.Lys1400=) c.466G= c.426G= (p.Lys142=) c.240G= (p.Lys80=) n.2540G= c.2793G= (p.Lys931=) c.1756G= c.4296G= (p.Lys1432=) c.2856G= (p.Lys952=) c.4209G= (p.Lys1403=) c.2584G= c.4305G= (p.Lys1435=) c.2663G= n.792G= c.3722G= c.2936G= c.2971G= c.2953G= c.2787G= (p.Lys929=) c.848G= c.2210G= (n.2210G=) c.2642G= c.2147G= (n.2147G=) c.2599G= n.802G= c.2553G= (p.Lys851=) c.4401G= (p.Lys1467=) n.613G= n.2737G= n.2272G= c.378G= (p.Lys126=) n.2122G= c.4308G= (p.Lys1436=) n.4689G= | |
19 | g.11041435G>T | CA404073678 | SMARCA4 | c.4395G>T (p.Lys1465Asn) c.4299G>T (p.Lys1433Asn) c.4200G>T (p.Lys1400Asn) c.466G>T c.426G>T (p.Lys142Asn) c.240G>T (p.Lys80Asn) n.2540G>T c.2793G>T (p.Lys931Asn) c.1756G>T c.4296G>T (p.Lys1432Asn) c.2856G>T (p.Lys952Asn) c.4209G>T (p.Lys1403Asn) c.2584G>T c.4305G>T (p.Lys1435Asn) c.2663G>T n.792G>T c.3722G>T c.2936G>T c.2971G>T c.2953G>T c.2787G>T (p.Lys929Asn) c.848G>T c.2210G>T (n.2210G>T) c.2642G>T c.2147G>T (n.2147G>T) c.2599G>T n.802G>T c.2553G>T (p.Lys851Asn) c.4401G>T (p.Lys1467Asn) n.613G>T n.2737G>T n.2272G>T c.378G>T (p.Lys126Asn) n.2122G>T c.4308G>T (p.Lys1436Asn) n.4689G>T | ClinVar dbSNP |
19 | g.11041435_11041438delinsGGAC | CA2322735006 | SMARCA4 | c.4395_4398delinsGGAC (p.Lys1465=) c.4299_4302delinsGGAC (p.Lys1433=) c.4200_4203delinsGGAC (p.Lys1400=) c.466_469delinsGGAC c.426_429delinsGGAC (p.Lys142=) c.240_243delinsGGAC (p.Lys80=) n.2540_2543delinsGGAC c.2793_2796delinsGGAC (p.Lys931=) c.1756_1759delinsGGAC c.4296_4299delinsGGAC (p.Lys1432=) c.2856_2859delinsGGAC (p.Lys952=) c.4209_4212delinsGGAC (p.Lys1403=) c.2584_2587delinsGGAC c.4305_4308delinsGGAC (p.Lys1435=) c.2663_2666delinsGGAC n.792_795delinsGGAC c.3722_3725delinsGGAC c.2936_2939delinsGGAC c.2971_2974delinsGGAC c.2953_2956delinsGGAC c.2787_2790delinsGGAC (p.Lys929=) c.848_851delinsGGAC c.2210_2213delinsGGAC (n.2210_2213delinsGGAC) c.2642_2645delinsGGAC c.2147_2150delinsGGAC (n.2147_2150delinsGGAC) c.2599_2602delinsGGAC n.802_805delinsGGAC c.2553_2556delinsGGAC (p.Lys851=) c.4401_4404delinsGGAC (p.Lys1467=) n.613_616delinsGGAC n.2737_2740delinsGGAC n.2272_2275delinsGGAC c.378_381delinsGGAC (p.Lys126=) n.2122_2125delinsGGAC c.4308_4311delinsGGAC (p.Lys1436=) n.4689_4692delinsGGAC | |
19 | g.11041436G>A | CA9204697 | SMARCA4 | c.4396G>A (p.Asp1466Asn) c.4300G>A (p.Asp1434Asn) c.4201G>A (p.Asp1401Asn) c.467G>A c.427G>A (p.Asp143Asn) c.241G>A (p.Asp81Asn) n.2541G>A c.2794G>A (p.Asp932Asn) c.1757G>A c.4297G>A (p.Asp1433Asn) c.2857G>A (p.Asp953Asn) c.4210G>A (p.Asp1404Asn) c.2585G>A c.4306G>A (p.Asp1436Asn) c.2664G>A n.793G>A c.3723G>A c.2937G>A c.2972G>A c.2954G>A c.2788G>A (p.Asp930Asn) c.849G>A c.2211G>A (n.2211G>A) c.2643G>A c.2148G>A (n.2148G>A) c.2600G>A n.803G>A c.2554G>A (p.Asp852Asn) c.4402G>A (p.Asp1468Asn) n.614G>A n.2738G>A n.2273G>A c.379G>A (p.Asp127Asn) n.2123G>A c.4309G>A (p.Asp1437Asn) n.4690G>A | ClinVar dbSNP ExAC gnomAD v4 |
19 | g.11041436G>C | CA404073688 | SMARCA4 | c.4396G>C (p.Asp1466His) c.4300G>C (p.Asp1434His) c.4201G>C (p.Asp1401His) c.467G>C c.427G>C (p.Asp143His) c.241G>C (p.Asp81His) n.2541G>C c.2794G>C (p.Asp932His) c.1757G>C c.4297G>C (p.Asp1433His) c.2857G>C (p.Asp953His) c.4210G>C (p.Asp1404His) c.2585G>C c.4306G>C (p.Asp1436His) c.2664G>C n.793G>C c.3723G>C c.2937G>C c.2972G>C c.2954G>C c.2788G>C (p.Asp930His) c.849G>C c.2211G>C (n.2211G>C) c.2643G>C c.2148G>C (n.2148G>C) c.2600G>C n.803G>C c.2554G>C (p.Asp852His) c.4402G>C (p.Asp1468His) n.614G>C n.2738G>C n.2273G>C c.379G>C (p.Asp127His) n.2123G>C c.4309G>C (p.Asp1437His) n.4690G>C | dbSNP |
19 | g.11041436G= | CA2322735011 | SMARCA4 | c.4396G= (p.Asp1466=) c.4300G= (p.Asp1434=) c.4201G= (p.Asp1401=) c.467G= c.427G= (p.Asp143=) c.241G= (p.Asp81=) n.2541G= c.2794G= (p.Asp932=) c.1757G= c.4297G= (p.Asp1433=) c.2857G= (p.Asp953=) c.4210G= (p.Asp1404=) c.2585G= c.4306G= (p.Asp1436=) c.2664G= n.793G= c.3723G= c.2937G= c.2972G= c.2954G= c.2788G= (p.Asp930=) c.849G= c.2211G= (n.2211G=) c.2643G= c.2148G= (n.2148G=) c.2600G= n.803G= c.2554G= (p.Asp852=) c.4402G= (p.Asp1468=) n.614G= n.2738G= n.2273G= c.379G= (p.Asp127=) n.2123G= c.4309G= (p.Asp1437=) n.4690G= | |
19 | g.11041436G>T | CA404073691 | SMARCA4 | c.4396G>T (p.Asp1466Tyr) c.4300G>T (p.Asp1434Tyr) c.4201G>T (p.Asp1401Tyr) c.467G>T c.427G>T (p.Asp143Tyr) c.241G>T (p.Asp81Tyr) n.2541G>T c.2794G>T (p.Asp932Tyr) c.1757G>T c.4297G>T (p.Asp1433Tyr) c.2857G>T (p.Asp953Tyr) c.4210G>T (p.Asp1404Tyr) c.2585G>T c.4306G>T (p.Asp1436Tyr) c.2664G>T n.793G>T c.3723G>T c.2937G>T c.2972G>T c.2954G>T c.2788G>T (p.Asp930Tyr) c.849G>T c.2211G>T (n.2211G>T) c.2643G>T c.2148G>T (n.2148G>T) c.2600G>T n.803G>T c.2554G>T (p.Asp852Tyr) c.4402G>T (p.Asp1468Tyr) n.614G>T n.2738G>T n.2273G>T c.379G>T (p.Asp127Tyr) n.2123G>T c.4309G>T (p.Asp1437Tyr) n.4690G>T | |
19 | g.11041441_11041443del | CA2322735010 | SMARCA4 | c.4401_4403del (p.Asp1467del) c.4305_4307del (p.Asp1435del) c.4206_4208del (p.Asp1402del) c.472_474del c.432_434del (p.Asp144del) c.246_248del (p.Asp82del) n.2546_2548del c.2799_2801del (p.Asp933del) c.1762_1764del c.4302_4304del (p.Asp1434del) c.2862_2864del (p.Asp954del) c.4215_4217del (p.Asp1405del) c.2590_2592del c.4311_4313del (p.Asp1437del) c.2669_2671del n.798_800del c.3728_3730del c.2942_2944del c.2977_2979del c.2959_2961del c.2793_2795del (p.Asp931del) c.854_856del c.2216_2218del (n.2216_2218del) c.2648_2650del c.2153_2155del (n.2153_2155del) c.2605_2607del n.808_810del c.2559_2561del (p.Asp853del) c.4407_4409del (p.Asp1469del) n.619_621del n.2743_2745del n.2278_2280del c.384_386del (p.Asp128del) n.2128_2130del c.4314_4316del (p.Asp1438del) n.4695_4697del | ClinVar dbSNP gnomAD v4 |
19 | g.11041437A= | CA2322735014 | SMARCA4 | c.4397A= (p.Asp1466=) c.4301A= (p.Asp1434=) c.4202A= (p.Asp1401=) c.468A= c.428A= (p.Asp143=) c.242A= (p.Asp81=) n.2542A= c.2795A= (p.Asp932=) c.1758A= c.4298A= (p.Asp1433=) c.2858A= (p.Asp953=) c.4211A= (p.Asp1404=) c.2586A= c.4307A= (p.Asp1436=) c.2665A= n.794A= c.3724A= c.2938A= c.2973A= c.2955A= c.2789A= (p.Asp930=) c.850A= c.2212A= (n.2212A=) c.2644A= c.2149A= (n.2149A=) c.2601A= n.804A= c.2555A= (p.Asp852=) c.4403A= (p.Asp1468=) n.615A= n.2739A= n.2274A= c.380A= (p.Asp127=) n.2124A= c.4310A= (p.Asp1437=) n.4691A= | |
19 | g.11041437A>C | CA404073699 | SMARCA4 | c.4397A>C (p.Asp1466Ala) c.4301A>C (p.Asp1434Ala) c.4202A>C (p.Asp1401Ala) c.468A>C c.428A>C (p.Asp143Ala) c.242A>C (p.Asp81Ala) n.2542A>C c.2795A>C (p.Asp932Ala) c.1758A>C c.4298A>C (p.Asp1433Ala) c.2858A>C (p.Asp953Ala) c.4211A>C (p.Asp1404Ala) c.2586A>C c.4307A>C (p.Asp1436Ala) c.2665A>C n.794A>C c.3724A>C c.2938A>C c.2973A>C c.2955A>C c.2789A>C (p.Asp930Ala) c.850A>C c.2212A>C (n.2212A>C) c.2644A>C c.2149A>C (n.2149A>C) c.2601A>C n.804A>C c.2555A>C (p.Asp852Ala) c.4403A>C (p.Asp1468Ala) n.615A>C n.2739A>C n.2274A>C c.380A>C (p.Asp127Ala) n.2124A>C c.4310A>C (p.Asp1437Ala) n.4691A>C | |
19 | g.11041437A>G | CA9204698 | SMARCA4 | c.4397A>G (p.Asp1466Gly) c.4301A>G (p.Asp1434Gly) c.4202A>G (p.Asp1401Gly) c.468A>G c.428A>G (p.Asp143Gly) c.242A>G (p.Asp81Gly) n.2542A>G c.2795A>G (p.Asp932Gly) c.1758A>G c.4298A>G (p.Asp1433Gly) c.2858A>G (p.Asp953Gly) c.4211A>G (p.Asp1404Gly) c.2586A>G c.4307A>G (p.Asp1436Gly) c.2665A>G n.794A>G c.3724A>G c.2938A>G c.2973A>G c.2955A>G c.2789A>G (p.Asp930Gly) c.850A>G c.2212A>G (n.2212A>G) c.2644A>G c.2149A>G (n.2149A>G) c.2601A>G n.804A>G c.2555A>G (p.Asp852Gly) c.4403A>G (p.Asp1468Gly) n.615A>G n.2739A>G n.2274A>G c.380A>G (p.Asp127Gly) n.2124A>G c.4310A>G (p.Asp1437Gly) n.4691A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11041437A>T | CA404073695 | SMARCA4 | c.4397A>T (p.Asp1466Val) c.4301A>T (p.Asp1434Val) c.4202A>T (p.Asp1401Val) c.468A>T c.428A>T (p.Asp143Val) c.242A>T (p.Asp81Val) n.2542A>T c.2795A>T (p.Asp932Val) c.1758A>T c.4298A>T (p.Asp1433Val) c.2858A>T (p.Asp953Val) c.4211A>T (p.Asp1404Val) c.2586A>T c.4307A>T (p.Asp1436Val) c.2665A>T n.794A>T c.3724A>T c.2938A>T c.2973A>T c.2955A>T c.2789A>T (p.Asp930Val) c.850A>T c.2212A>T (n.2212A>T) c.2644A>T c.2149A>T (n.2149A>T) c.2601A>T n.804A>T c.2555A>T (p.Asp852Val) c.4403A>T (p.Asp1468Val) n.615A>T n.2739A>T n.2274A>T c.380A>T (p.Asp127Val) n.2124A>T c.4310A>T (p.Asp1437Val) n.4691A>T | |
19 | g.11041438C>A | CA305294392 | SMARCA4 | c.4398C>A (p.Asp1466Glu) c.4302C>A (p.Asp1434Glu) c.4203C>A (p.Asp1401Glu) c.469C>A c.429C>A (p.Asp143Glu) c.243C>A (p.Asp81Glu) n.2543C>A c.2796C>A (p.Asp932Glu) c.1759C>A c.4299C>A (p.Asp1433Glu) c.2859C>A (p.Asp953Glu) c.4212C>A (p.Asp1404Glu) c.2587C>A c.4308C>A (p.Asp1436Glu) c.2666C>A n.795C>A c.3725C>A c.2939C>A c.2974C>A c.2956C>A c.2790C>A (p.Asp930Glu) c.851C>A c.2213C>A (n.2213C>A) c.2645C>A c.2150C>A (n.2150C>A) c.2602C>A n.805C>A c.2556C>A (p.Asp852Glu) c.4404C>A (p.Asp1468Glu) n.616C>A n.2740C>A n.2275C>A c.381C>A (p.Asp127Glu) n.2125C>A c.4311C>A (p.Asp1437Glu) n.4692C>A | ClinVar dbSNP gnomAD v4 |
19 | g.11041438C= | CA2322735018 | SMARCA4 | c.4398C= (p.Asp1466=) c.4302C= (p.Asp1434=) c.4203C= (p.Asp1401=) c.469C= c.429C= (p.Asp143=) c.243C= (p.Asp81=) n.2543C= c.2796C= (p.Asp932=) c.1759C= c.4299C= (p.Asp1433=) c.2859C= (p.Asp953=) c.4212C= (p.Asp1404=) c.2587C= c.4308C= (p.Asp1436=) c.2666C= n.795C= c.3725C= c.2939C= c.2974C= c.2956C= c.2790C= (p.Asp930=) c.851C= c.2213C= (n.2213C=) c.2645C= c.2150C= (n.2150C=) c.2602C= n.805C= c.2556C= (p.Asp852=) c.4404C= (p.Asp1468=) n.616C= n.2740C= n.2275C= c.381C= (p.Asp127=) n.2125C= c.4311C= (p.Asp1437=) n.4692C= | |
19 | g.11041438C>G | CA404073706 | SMARCA4 | c.4398C>G (p.Asp1466Glu) c.4302C>G (p.Asp1434Glu) c.4203C>G (p.Asp1401Glu) c.469C>G c.429C>G (p.Asp143Glu) c.243C>G (p.Asp81Glu) n.2543C>G c.2796C>G (p.Asp932Glu) c.1759C>G c.4299C>G (p.Asp1433Glu) c.2859C>G (p.Asp953Glu) c.4212C>G (p.Asp1404Glu) c.2587C>G c.4308C>G (p.Asp1436Glu) c.2666C>G n.795C>G c.3725C>G c.2939C>G c.2974C>G c.2956C>G c.2790C>G (p.Asp930Glu) c.851C>G c.2213C>G (n.2213C>G) c.2645C>G c.2150C>G (n.2150C>G) c.2602C>G n.805C>G c.2556C>G (p.Asp852Glu) c.4404C>G (p.Asp1468Glu) n.616C>G n.2740C>G n.2275C>G c.381C>G (p.Asp127Glu) n.2125C>G c.4311C>G (p.Asp1437Glu) n.4692C>G | dbSNP |
19 | g.11041438C>T | CA349154 | SMARCA4 | c.4398C>T (p.Asp1466=) c.4302C>T (p.Asp1434=) c.4203C>T (p.Asp1401=) c.469C>T c.429C>T (p.Asp143=) c.243C>T (p.Asp81=) n.2543C>T c.2796C>T (p.Asp932=) c.1759C>T c.4299C>T (p.Asp1433=) c.2859C>T (p.Asp953=) c.4212C>T (p.Asp1404=) c.2587C>T c.4308C>T (p.Asp1436=) c.2666C>T n.795C>T c.3725C>T c.2939C>T c.2974C>T c.2956C>T c.2790C>T (p.Asp930=) c.851C>T c.2213C>T (n.2213C>T) c.2645C>T c.2150C>T (n.2150C>T) c.2602C>T n.805C>T c.2556C>T (p.Asp852=) c.4404C>T (p.Asp1468=) n.616C>T n.2740C>T n.2275C>T c.381C>T (p.Asp127=) n.2125C>T c.4311C>T (p.Asp1437=) n.4692C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11041439G>A | CA305294397 | SMARCA4 | c.4399G>A (p.Asp1467Asn) c.4303G>A (p.Asp1435Asn) c.4204G>A (p.Asp1402Asn) c.470G>A c.430G>A (p.Asp144Asn) c.244G>A (p.Asp82Asn) n.2544G>A c.2797G>A (p.Asp933Asn) c.1760G>A c.4300G>A (p.Asp1434Asn) c.2860G>A (p.Asp954Asn) c.4213G>A (p.Asp1405Asn) c.2588G>A c.4309G>A (p.Asp1437Asn) c.2667G>A n.796G>A c.3726G>A c.2940G>A c.2975G>A c.2957G>A c.2791G>A (p.Asp931Asn) c.852G>A c.1G>A (p.Asp1Asn) c.2214G>A (n.2214G>A) c.2646G>A c.2151G>A (n.2151G>A) c.2603G>A n.806G>A c.2557G>A (p.Asp853Asn) c.4405G>A (p.Asp1469Asn) n.617G>A n.2741G>A n.2276G>A c.382G>A (p.Asp128Asn) n.2126G>A c.4312G>A (p.Asp1438Asn) n.4693G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.11041439G>C | CA404073712 | SMARCA4 | c.4399G>C (p.Asp1467His) c.4303G>C (p.Asp1435His) c.4204G>C (p.Asp1402His) c.470G>C c.430G>C (p.Asp144His) c.244G>C (p.Asp82His) n.2544G>C c.2797G>C (p.Asp933His) c.1760G>C c.4300G>C (p.Asp1434His) c.2860G>C (p.Asp954His) c.4213G>C (p.Asp1405His) c.2588G>C c.4309G>C (p.Asp1437His) c.2667G>C n.796G>C c.3726G>C c.2940G>C c.2975G>C c.2957G>C c.2791G>C (p.Asp931His) c.852G>C c.1G>C (p.Asp1His) c.2214G>C (n.2214G>C) c.2646G>C c.2151G>C (n.2151G>C) c.2603G>C n.806G>C c.2557G>C (p.Asp853His) c.4405G>C (p.Asp1469His) n.617G>C n.2741G>C n.2276G>C c.382G>C (p.Asp128His) n.2126G>C c.4312G>C (p.Asp1438His) n.4693G>C | dbSNP |
19 | g.11041439G= | CA2322735023 | SMARCA4 | c.4399G= (p.Asp1467=) c.4303G= (p.Asp1435=) c.4204G= (p.Asp1402=) c.470G= c.430G= (p.Asp144=) c.244G= (p.Asp82=) n.2544G= c.2797G= (p.Asp933=) c.1760G= c.4300G= (p.Asp1434=) c.2860G= (p.Asp954=) c.4213G= (p.Asp1405=) c.2588G= c.4309G= (p.Asp1437=) c.2667G= n.796G= c.3726G= c.2940G= c.2975G= c.2957G= c.2791G= (p.Asp931=) c.852G= c.1G= (p.Asp1=) c.2214G= (n.2214G=) c.2646G= c.2151G= (n.2151G=) c.2603G= n.806G= c.2557G= (p.Asp853=) c.4405G= (p.Asp1469=) n.617G= n.2741G= n.2276G= c.382G= (p.Asp128=) n.2126G= c.4312G= (p.Asp1438=) n.4693G= | |
19 | g.11041439G>T | CA404073715 | SMARCA4 | c.4399G>T (p.Asp1467Tyr) c.4303G>T (p.Asp1435Tyr) c.4204G>T (p.Asp1402Tyr) c.470G>T c.430G>T (p.Asp144Tyr) c.244G>T (p.Asp82Tyr) n.2544G>T c.2797G>T (p.Asp933Tyr) c.1760G>T c.4300G>T (p.Asp1434Tyr) c.2860G>T (p.Asp954Tyr) c.4213G>T (p.Asp1405Tyr) c.2588G>T c.4309G>T (p.Asp1437Tyr) c.2667G>T n.796G>T c.3726G>T c.2940G>T c.2975G>T c.2957G>T c.2791G>T (p.Asp931Tyr) c.852G>T c.1G>T (p.Asp1Tyr) c.2214G>T (n.2214G>T) c.2646G>T c.2151G>T (n.2151G>T) c.2603G>T n.806G>T c.2557G>T (p.Asp853Tyr) c.4405G>T (p.Asp1469Tyr) n.617G>T n.2741G>T n.2276G>T c.382G>T (p.Asp128Tyr) n.2126G>T c.4312G>T (p.Asp1438Tyr) n.4693G>T | dbSNP |
19 | g.11041440A>C | CA404073719 | SMARCA4 | c.4400A>C (p.Asp1467Ala) c.4304A>C (p.Asp1435Ala) c.4205A>C (p.Asp1402Ala) c.471A>C c.431A>C (p.Asp144Ala) c.245A>C (p.Asp82Ala) n.2545A>C c.2798A>C (p.Asp933Ala) c.1761A>C c.4301A>C (p.Asp1434Ala) c.2861A>C (p.Asp954Ala) c.4214A>C (p.Asp1405Ala) c.2589A>C c.4310A>C (p.Asp1437Ala) c.2668A>C n.797A>C c.3727A>C c.2941A>C c.2976A>C c.2958A>C c.2792A>C (p.Asp931Ala) c.853A>C c.2A>C (p.Asp1Ala) c.2215A>C (n.2215A>C) c.2647A>C c.2152A>C (n.2152A>C) c.2604A>C n.807A>C c.2558A>C (p.Asp853Ala) c.4406A>C (p.Asp1469Ala) n.618A>C n.2742A>C n.2277A>C c.383A>C (p.Asp128Ala) n.2127A>C c.4313A>C (p.Asp1438Ala) n.4694A>C | dbSNP |
19 | g.11041440A>G | CA404073722 | SMARCA4 | c.4400A>G (p.Asp1467Gly) c.4304A>G (p.Asp1435Gly) c.4205A>G (p.Asp1402Gly) c.471A>G c.431A>G (p.Asp144Gly) c.245A>G (p.Asp82Gly) n.2545A>G c.2798A>G (p.Asp933Gly) c.1761A>G c.4301A>G (p.Asp1434Gly) c.2861A>G (p.Asp954Gly) c.4214A>G (p.Asp1405Gly) c.2589A>G c.4310A>G (p.Asp1437Gly) c.2668A>G n.797A>G c.3727A>G c.2941A>G c.2976A>G c.2958A>G c.2792A>G (p.Asp931Gly) c.853A>G c.2A>G (p.Asp1Gly) c.2215A>G (n.2215A>G) c.2647A>G c.2152A>G (n.2152A>G) c.2604A>G n.807A>G c.2558A>G (p.Asp853Gly) c.4406A>G (p.Asp1469Gly) n.618A>G n.2742A>G n.2277A>G c.383A>G (p.Asp128Gly) n.2127A>G c.4313A>G (p.Asp1438Gly) n.4694A>G | dbSNP |
19 | g.11041440A>T | CA404073724 | SMARCA4 | c.4400A>T (p.Asp1467Val) c.4304A>T (p.Asp1435Val) c.4205A>T (p.Asp1402Val) c.471A>T c.431A>T (p.Asp144Val) c.245A>T (p.Asp82Val) n.2545A>T c.2798A>T (p.Asp933Val) c.1761A>T c.4301A>T (p.Asp1434Val) c.2861A>T (p.Asp954Val) c.4214A>T (p.Asp1405Val) c.2589A>T c.4310A>T (p.Asp1437Val) c.2668A>T n.797A>T c.3727A>T c.2941A>T c.2976A>T c.2958A>T c.2792A>T (p.Asp931Val) c.853A>T c.2A>T (p.Asp1Val) c.2215A>T (n.2215A>T) c.2647A>T c.2152A>T (n.2152A>T) c.2604A>T n.807A>T c.2558A>T (p.Asp853Val) c.4406A>T (p.Asp1469Val) n.618A>T n.2742A>T n.2277A>T c.383A>T (p.Asp128Val) n.2127A>T c.4313A>T (p.Asp1438Val) n.4694A>T | dbSNP |
19 | g.11041441C>A | CA404073727 | SMARCA4 | c.4401C>A (p.Asp1467Glu) c.4305C>A (p.Asp1435Glu) c.4206C>A (p.Asp1402Glu) c.472C>A c.432C>A (p.Asp144Glu) c.246C>A (p.Asp82Glu) n.2546C>A c.2799C>A (p.Asp933Glu) c.1762C>A c.4302C>A (p.Asp1434Glu) c.2862C>A (p.Asp954Glu) c.4215C>A (p.Asp1405Glu) c.2590C>A c.4311C>A (p.Asp1437Glu) c.2669C>A n.798C>A c.3728C>A c.2942C>A c.2977C>A c.2959C>A c.2793C>A (p.Asp931Glu) c.854C>A c.3C>A (p.Asp1Glu) c.2216C>A (n.2216C>A) c.2648C>A c.2153C>A (n.2153C>A) c.2605C>A n.808C>A c.2559C>A (p.Asp853Glu) c.4407C>A (p.Asp1469Glu) n.619C>A n.2743C>A n.2278C>A c.384C>A (p.Asp128Glu) n.2128C>A c.4314C>A (p.Asp1438Glu) n.4695C>A | dbSNP |
19 | g.11041441C= | CA2322735029 | SMARCA4 | c.4401C= (p.Asp1467=) c.4305C= (p.Asp1435=) c.4206C= (p.Asp1402=) c.472C= c.432C= (p.Asp144=) c.246C= (p.Asp82=) n.2546C= c.2799C= (p.Asp933=) c.1762C= c.4302C= (p.Asp1434=) c.2862C= (p.Asp954=) c.4215C= (p.Asp1405=) c.2590C= c.4311C= (p.Asp1437=) c.2669C= n.798C= c.3728C= c.2942C= c.2977C= c.2959C= c.2793C= (p.Asp931=) c.854C= c.3C= (p.Asp1=) c.2216C= (n.2216C=) c.2648C= c.2153C= (n.2153C=) c.2605C= n.808C= c.2559C= (p.Asp853=) c.4407C= (p.Asp1469=) n.619C= n.2743C= n.2278C= c.384C= (p.Asp128=) n.2128C= c.4314C= (p.Asp1438=) n.4695C= | |
19 | g.11041441C>G | CA404073729 | SMARCA4 | c.4401C>G (p.Asp1467Glu) c.4305C>G (p.Asp1435Glu) c.4206C>G (p.Asp1402Glu) c.472C>G c.432C>G (p.Asp144Glu) c.246C>G (p.Asp82Glu) n.2546C>G c.2799C>G (p.Asp933Glu) c.1762C>G c.4302C>G (p.Asp1434Glu) c.2862C>G (p.Asp954Glu) c.4215C>G (p.Asp1405Glu) c.2590C>G c.4311C>G (p.Asp1437Glu) c.2669C>G n.798C>G c.3728C>G c.2942C>G c.2977C>G c.2959C>G c.2793C>G (p.Asp931Glu) c.854C>G c.3C>G (p.Asp1Glu) c.2216C>G (n.2216C>G) c.2648C>G c.2153C>G (n.2153C>G) c.2605C>G n.808C>G c.2559C>G (p.Asp853Glu) c.4407C>G (p.Asp1469Glu) n.619C>G n.2743C>G n.2278C>G c.384C>G (p.Asp128Glu) n.2128C>G c.4314C>G (p.Asp1438Glu) n.4695C>G | ClinVar dbSNP gnomAD v4 |
19 | g.11041441C>T | CA9204699 | SMARCA4 | c.4401C>T (p.Asp1467=) c.4305C>T (p.Asp1435=) c.4206C>T (p.Asp1402=) c.472C>T c.432C>T (p.Asp144=) c.246C>T (p.Asp82=) n.2546C>T c.2799C>T (p.Asp933=) c.1762C>T c.4302C>T (p.Asp1434=) c.2862C>T (p.Asp954=) c.4215C>T (p.Asp1405=) c.2590C>T c.4311C>T (p.Asp1437=) c.2669C>T n.798C>T c.3728C>T c.2942C>T c.2977C>T c.2959C>T c.2793C>T (p.Asp931=) c.854C>T c.3C>T (p.Asp1=) c.2216C>T (n.2216C>T) c.2648C>T c.2153C>T (n.2153C>T) c.2605C>T n.808C>T c.2559C>T (p.Asp853=) c.4407C>T (p.Asp1469=) n.619C>T n.2743C>T n.2278C>T c.384C>T (p.Asp128=) n.2128C>T c.4314C>T (p.Asp1438=) n.4695C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11041442G>A | CA9204700 | SMARCA4 | c.4402G>A (p.Glu1468Lys) c.4306G>A (p.Glu1436Lys) c.4207G>A (p.Glu1403Lys) c.473G>A c.433G>A (p.Glu145Lys) c.247G>A (p.Glu83Lys) n.2547G>A c.2800G>A (p.Glu934Lys) c.1763G>A c.4303G>A (p.Glu1435Lys) c.2863G>A (p.Glu955Lys) c.4216G>A (p.Glu1406Lys) c.2591G>A c.4312G>A (p.Glu1438Lys) c.2670G>A n.799G>A c.3729G>A c.2943G>A c.2978G>A c.2960G>A c.2794G>A (p.Glu932Lys) c.855G>A c.4G>A (p.Glu2Lys) c.2217G>A (n.2217G>A) c.2649G>A c.2154G>A (n.2154G>A) c.2606G>A n.809G>A c.2560G>A (p.Glu854Lys) c.4408G>A (p.Glu1470Lys) n.620G>A n.2744G>A n.2279G>A c.385G>A (p.Glu129Lys) n.2129G>A c.4315G>A (p.Glu1439Lys) n.4696G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11041442G>C | CA404073736 | SMARCA4 | c.4402G>C (p.Glu1468Gln) c.4306G>C (p.Glu1436Gln) c.4207G>C (p.Glu1403Gln) c.473G>C c.433G>C (p.Glu145Gln) c.247G>C (p.Glu83Gln) n.2547G>C c.2800G>C (p.Glu934Gln) c.1763G>C c.4303G>C (p.Glu1435Gln) c.2863G>C (p.Glu955Gln) c.4216G>C (p.Glu1406Gln) c.2591G>C c.4312G>C (p.Glu1438Gln) c.2670G>C n.799G>C c.3729G>C c.2943G>C c.2978G>C c.2960G>C c.2794G>C (p.Glu932Gln) c.855G>C c.4G>C (p.Glu2Gln) c.2217G>C (n.2217G>C) c.2649G>C c.2154G>C (n.2154G>C) c.2606G>C n.809G>C c.2560G>C (p.Glu854Gln) c.4408G>C (p.Glu1470Gln) n.620G>C n.2744G>C n.2279G>C c.385G>C (p.Glu129Gln) n.2129G>C c.4315G>C (p.Glu1439Gln) n.4696G>C | dbSNP |
19 | g.11041442G= | CA2322735035 | SMARCA4 | c.4402G= (p.Glu1468=) c.4306G= (p.Glu1436=) c.4207G= (p.Glu1403=) c.473G= c.433G= (p.Glu145=) c.247G= (p.Glu83=) n.2547G= c.2800G= (p.Glu934=) c.1763G= c.4303G= (p.Glu1435=) c.2863G= (p.Glu955=) c.4216G= (p.Glu1406=) c.2591G= c.4312G= (p.Glu1438=) c.2670G= n.799G= c.3729G= c.2943G= c.2978G= c.2960G= c.2794G= (p.Glu932=) c.855G= c.4G= (p.Glu2=) c.2217G= (n.2217G=) c.2649G= c.2154G= (n.2154G=) c.2606G= n.809G= c.2560G= (p.Glu854=) c.4408G= (p.Glu1470=) n.620G= n.2744G= n.2279G= c.385G= (p.Glu129=) n.2129G= c.4315G= (p.Glu1439=) n.4696G= | |
19 | g.11041442G>T | CA404073733 | SMARCA4 | c.4402G>T (p.Glu1468Ter) c.4306G>T (p.Glu1436Ter) c.4207G>T (p.Glu1403Ter) c.473G>T c.433G>T (p.Glu145Ter) c.247G>T (p.Glu83Ter) n.2547G>T c.2800G>T (p.Glu934Ter) c.1763G>T c.4303G>T (p.Glu1435Ter) c.2863G>T (p.Glu955Ter) c.4216G>T (p.Glu1406Ter) c.2591G>T c.4312G>T (p.Glu1438Ter) c.2670G>T n.799G>T c.3729G>T c.2943G>T c.2978G>T c.2960G>T c.2794G>T (p.Glu932Ter) c.855G>T c.4G>T (p.Glu2Ter) c.2217G>T (n.2217G>T) c.2649G>T c.2154G>T (n.2154G>T) c.2606G>T n.809G>T c.2560G>T (p.Glu854Ter) c.4408G>T (p.Glu1470Ter) n.620G>T n.2744G>T n.2279G>T c.385G>T (p.Glu129Ter) n.2129G>T c.4315G>T (p.Glu1439Ter) n.4696G>T | |
19 | g.11041443A>C | CA404073740 | SMARCA4 | c.4403A>C (p.Glu1468Ala) c.4307A>C (p.Glu1436Ala) c.4208A>C (p.Glu1403Ala) c.474A>C c.434A>C (p.Glu145Ala) c.248A>C (p.Glu83Ala) n.2548A>C c.2801A>C (p.Glu934Ala) c.1764A>C c.4304A>C (p.Glu1435Ala) c.2864A>C (p.Glu955Ala) c.4217A>C (p.Glu1406Ala) c.2592A>C c.4313A>C (p.Glu1438Ala) c.2671A>C n.800A>C c.3730A>C c.2944A>C c.2979A>C c.2961A>C c.2795A>C (p.Glu932Ala) c.856A>C c.5A>C (p.Glu2Ala) c.2218A>C (n.2218A>C) c.2650A>C c.2155A>C (n.2155A>C) c.2607A>C n.810A>C c.2561A>C (p.Glu854Ala) c.4409A>C (p.Glu1470Ala) n.621A>C n.2745A>C n.2280A>C c.386A>C (p.Glu129Ala) n.2130A>C c.4316A>C (p.Glu1439Ala) n.4697A>C | |
19 | g.11041443A>G | CA404073743 | SMARCA4 | c.4403A>G (p.Glu1468Gly) c.4307A>G (p.Glu1436Gly) c.4208A>G (p.Glu1403Gly) c.474A>G c.434A>G (p.Glu145Gly) c.248A>G (p.Glu83Gly) n.2548A>G c.2801A>G (p.Glu934Gly) c.1764A>G c.4304A>G (p.Glu1435Gly) c.2864A>G (p.Glu955Gly) c.4217A>G (p.Glu1406Gly) c.2592A>G c.4313A>G (p.Glu1438Gly) c.2671A>G n.800A>G c.3730A>G c.2944A>G c.2979A>G c.2961A>G c.2795A>G (p.Glu932Gly) c.856A>G c.5A>G (p.Glu2Gly) c.2218A>G (n.2218A>G) c.2650A>G c.2155A>G (n.2155A>G) c.2607A>G n.810A>G c.2561A>G (p.Glu854Gly) c.4409A>G (p.Glu1470Gly) n.621A>G n.2745A>G n.2280A>G c.386A>G (p.Glu129Gly) n.2130A>G c.4316A>G (p.Glu1439Gly) n.4697A>G | dbSNP |
19 | g.11041443A>T | CA404073746 | SMARCA4 | c.4403A>T (p.Glu1468Val) c.4307A>T (p.Glu1436Val) c.4208A>T (p.Glu1403Val) c.474A>T c.434A>T (p.Glu145Val) c.248A>T (p.Glu83Val) n.2548A>T c.2801A>T (p.Glu934Val) c.1764A>T c.4304A>T (p.Glu1435Val) c.2864A>T (p.Glu955Val) c.4217A>T (p.Glu1406Val) c.2592A>T c.4313A>T (p.Glu1438Val) c.2671A>T n.800A>T c.3730A>T c.2944A>T c.2979A>T c.2961A>T c.2795A>T (p.Glu932Val) c.856A>T c.5A>T (p.Glu2Val) c.2218A>T (n.2218A>T) c.2650A>T c.2155A>T (n.2155A>T) c.2607A>T n.810A>T c.2561A>T (p.Glu854Val) c.4409A>T (p.Glu1470Val) n.621A>T n.2745A>T n.2280A>T c.386A>T (p.Glu129Val) n.2130A>T c.4316A>T (p.Glu1439Val) n.4697A>T | dbSNP |
19 | g.11041444G>A | CA10583756 | SMARCA4 | c.4404G>A (p.Glu1468=) c.4308G>A (p.Glu1436=) c.4209G>A (p.Glu1403=) c.475G>A c.435G>A (p.Glu145=) c.249G>A (p.Glu83=) n.2549G>A c.2802G>A (p.Glu934=) c.1765G>A c.4305G>A (p.Glu1435=) c.2865G>A (p.Glu955=) c.4218G>A (p.Glu1406=) c.2593G>A c.4314G>A (p.Glu1438=) c.2672G>A n.801G>A c.3731G>A c.2945G>A c.2980G>A c.2962G>A c.2796G>A (p.Glu932=) c.857G>A c.6G>A (p.Glu2=) c.2219G>A (n.2219G>A) c.2651G>A c.2156G>A (n.2156G>A) c.2608G>A n.811G>A c.2562G>A (p.Glu854=) c.4410G>A (p.Glu1470=) n.622G>A n.2746G>A n.2281G>A c.387G>A (p.Glu129=) n.2131G>A c.4317G>A (p.Glu1439=) n.4698G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11041444G>C | CA404073751 | SMARCA4 | c.4404G>C (p.Glu1468Asp) c.4308G>C (p.Glu1436Asp) c.4209G>C (p.Glu1403Asp) c.475G>C c.435G>C (p.Glu145Asp) c.249G>C (p.Glu83Asp) n.2549G>C c.2802G>C (p.Glu934Asp) c.1765G>C c.4305G>C (p.Glu1435Asp) c.2865G>C (p.Glu955Asp) c.4218G>C (p.Glu1406Asp) c.2593G>C c.4314G>C (p.Glu1438Asp) c.2672G>C n.801G>C c.3731G>C c.2945G>C c.2980G>C c.2962G>C c.2796G>C (p.Glu932Asp) c.857G>C c.6G>C (p.Glu2Asp) c.2219G>C (n.2219G>C) c.2651G>C c.2156G>C (n.2156G>C) c.2608G>C n.811G>C c.2562G>C (p.Glu854Asp) c.4410G>C (p.Glu1470Asp) n.622G>C n.2746G>C n.2281G>C c.387G>C (p.Glu129Asp) n.2131G>C c.4317G>C (p.Glu1439Asp) n.4698G>C | ClinVar dbSNP |
19 | g.11041444G= | CA2322735037 | SMARCA4 | c.4404G= (p.Glu1468=) c.4308G= (p.Glu1436=) c.4209G= (p.Glu1403=) c.475G= c.435G= (p.Glu145=) c.249G= (p.Glu83=) n.2549G= c.2802G= (p.Glu934=) c.1765G= c.4305G= (p.Glu1435=) c.2865G= (p.Glu955=) c.4218G= (p.Glu1406=) c.2593G= c.4314G= (p.Glu1438=) c.2672G= n.801G= c.3731G= c.2945G= c.2980G= c.2962G= c.2796G= (p.Glu932=) c.857G= c.6G= (p.Glu2=) c.2219G= (n.2219G=) c.2651G= c.2156G= (n.2156G=) c.2608G= n.811G= c.2562G= (p.Glu854=) c.4410G= (p.Glu1470=) n.622G= n.2746G= n.2281G= c.387G= (p.Glu129=) n.2131G= c.4317G= (p.Glu1439=) n.4698G= | |
19 | g.11041444G>T | CA404073756 | SMARCA4 | c.4404G>T (p.Glu1468Asp) c.4308G>T (p.Glu1436Asp) c.4209G>T (p.Glu1403Asp) c.475G>T c.435G>T (p.Glu145Asp) c.249G>T (p.Glu83Asp) n.2549G>T c.2802G>T (p.Glu934Asp) c.1765G>T c.4305G>T (p.Glu1435Asp) c.2865G>T (p.Glu955Asp) c.4218G>T (p.Glu1406Asp) c.2593G>T c.4314G>T (p.Glu1438Asp) c.2672G>T n.801G>T c.3731G>T c.2945G>T c.2980G>T c.2962G>T c.2796G>T (p.Glu932Asp) c.857G>T c.6G>T (p.Glu2Asp) c.2219G>T (n.2219G>T) c.2651G>T c.2156G>T (n.2156G>T) c.2608G>T n.811G>T c.2562G>T (p.Glu854Asp) c.4410G>T (p.Glu1470Asp) n.622G>T n.2746G>T n.2281G>T c.387G>T (p.Glu129Asp) n.2131G>T c.4317G>T (p.Glu1439Asp) n.4698G>T | dbSNP |
19 | g.11041445A= | CA2322735039 | SMARCA4 | c.4405A= (p.Ser1469=) c.4309A= (p.Ser1437=) c.4210A= (p.Ser1404=) c.476A= c.436A= (p.Ser146=) c.250A= (p.Ser84=) n.2550A= c.2803A= (p.Ser935=) c.1766A= c.4306A= (p.Ser1436=) c.2866A= (p.Ser956=) c.4219A= (p.Ser1407=) c.2594A= c.4315A= (p.Ser1439=) c.2673A= n.802A= c.3732A= c.2946A= c.2981A= c.2963A= c.2797A= (p.Ser933=) c.858A= c.7A= (p.Ser3=) c.2220A= (n.2220A=) c.2652A= c.2157A= (n.2157A=) c.2609A= n.812A= c.2563A= (p.Ser855=) c.4411A= (p.Ser1471=) n.623A= n.2747A= n.2282A= c.388A= (p.Ser130=) n.2132A= c.4318A= (p.Ser1440=) n.4699A= | |
19 | g.11041445A>C | CA404073763 | SMARCA4 | c.4405A>C (p.Ser1469Arg) c.4309A>C (p.Ser1437Arg) c.4210A>C (p.Ser1404Arg) c.476A>C c.436A>C (p.Ser146Arg) c.250A>C (p.Ser84Arg) n.2550A>C c.2803A>C (p.Ser935Arg) c.1766A>C c.4306A>C (p.Ser1436Arg) c.2866A>C (p.Ser956Arg) c.4219A>C (p.Ser1407Arg) c.2594A>C c.4315A>C (p.Ser1439Arg) c.2673A>C n.802A>C c.3732A>C c.2946A>C c.2981A>C c.2963A>C c.2797A>C (p.Ser933Arg) c.858A>C c.7A>C (p.Ser3Arg) c.2220A>C (n.2220A>C) c.2652A>C c.2157A>C (n.2157A>C) c.2609A>C n.812A>C c.2563A>C (p.Ser855Arg) c.4411A>C (p.Ser1471Arg) n.623A>C n.2747A>C n.2282A>C c.388A>C (p.Ser130Arg) n.2132A>C c.4318A>C (p.Ser1440Arg) n.4699A>C | |
19 | g.11041445A>G | CA404073762 | SMARCA4 | c.4405A>G (p.Ser1469Gly) c.4309A>G (p.Ser1437Gly) c.4210A>G (p.Ser1404Gly) c.476A>G c.436A>G (p.Ser146Gly) c.250A>G (p.Ser84Gly) n.2550A>G c.2803A>G (p.Ser935Gly) c.1766A>G c.4306A>G (p.Ser1436Gly) c.2866A>G (p.Ser956Gly) c.4219A>G (p.Ser1407Gly) c.2594A>G c.4315A>G (p.Ser1439Gly) c.2673A>G n.802A>G c.3732A>G c.2946A>G c.2981A>G c.2963A>G c.2797A>G (p.Ser933Gly) c.858A>G c.7A>G (p.Ser3Gly) c.2220A>G (n.2220A>G) c.2652A>G c.2157A>G (n.2157A>G) c.2609A>G n.812A>G c.2563A>G (p.Ser855Gly) c.4411A>G (p.Ser1471Gly) n.623A>G n.2747A>G n.2282A>G c.388A>G (p.Ser130Gly) n.2132A>G c.4318A>G (p.Ser1440Gly) n.4699A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.11041445A>T | CA404073760 | SMARCA4 | c.4405A>T (p.Ser1469Cys) c.4309A>T (p.Ser1437Cys) c.4210A>T (p.Ser1404Cys) c.476A>T c.436A>T (p.Ser146Cys) c.250A>T (p.Ser84Cys) n.2550A>T c.2803A>T (p.Ser935Cys) c.1766A>T c.4306A>T (p.Ser1436Cys) c.2866A>T (p.Ser956Cys) c.4219A>T (p.Ser1407Cys) c.2594A>T c.4315A>T (p.Ser1439Cys) c.2673A>T n.802A>T c.3732A>T c.2946A>T c.2981A>T c.2963A>T c.2797A>T (p.Ser933Cys) c.858A>T c.7A>T (p.Ser3Cys) c.2220A>T (n.2220A>T) c.2652A>T c.2157A>T (n.2157A>T) c.2609A>T n.812A>T c.2563A>T (p.Ser855Cys) c.4411A>T (p.Ser1471Cys) n.623A>T n.2747A>T n.2282A>T c.388A>T (p.Ser130Cys) n.2132A>T c.4318A>T (p.Ser1440Cys) n.4699A>T | dbSNP |
19 | g.11041446G>A | CA404073767 | SMARCA4 | c.4406G>A (p.Ser1469Asn) c.4310G>A (p.Ser1437Asn) c.4211G>A (p.Ser1404Asn) c.477G>A c.437G>A (p.Ser146Asn) c.251G>A (p.Ser84Asn) n.2551G>A c.2804G>A (p.Ser935Asn) c.1767G>A c.4307G>A (p.Ser1436Asn) c.2867G>A (p.Ser956Asn) c.4220G>A (p.Ser1407Asn) c.2595G>A c.4316G>A (p.Ser1439Asn) c.2674G>A n.803G>A c.3733G>A c.2947G>A c.2982G>A c.2964G>A c.2798G>A (p.Ser933Asn) c.859G>A c.8G>A (p.Ser3Asn) c.2221G>A (n.2221G>A) c.2653G>A c.2158G>A (n.2158G>A) c.2610G>A n.813G>A c.2564G>A (p.Ser855Asn) c.4412G>A (p.Ser1471Asn) n.624G>A n.2748G>A n.2283G>A c.389G>A (p.Ser130Asn) n.2133G>A c.4319G>A (p.Ser1440Asn) n.4700G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11041446G>C | CA404073775 | SMARCA4 | c.4406G>C (p.Ser1469Thr) c.4310G>C (p.Ser1437Thr) c.4211G>C (p.Ser1404Thr) c.477G>C c.437G>C (p.Ser146Thr) c.251G>C (p.Ser84Thr) n.2551G>C c.2804G>C (p.Ser935Thr) c.1767G>C c.4307G>C (p.Ser1436Thr) c.2867G>C (p.Ser956Thr) c.4220G>C (p.Ser1407Thr) c.2595G>C c.4316G>C (p.Ser1439Thr) c.2674G>C n.803G>C c.3733G>C c.2947G>C c.2982G>C c.2964G>C c.2798G>C (p.Ser933Thr) c.859G>C c.8G>C (p.Ser3Thr) c.2221G>C (n.2221G>C) c.2653G>C c.2158G>C (n.2158G>C) c.2610G>C n.813G>C c.2564G>C (p.Ser855Thr) c.4412G>C (p.Ser1471Thr) n.624G>C n.2748G>C n.2283G>C c.389G>C (p.Ser130Thr) n.2133G>C c.4319G>C (p.Ser1440Thr) n.4700G>C | ClinVar dbSNP |
19 | g.11041446G= | CA2322735043 | SMARCA4 | c.4406G= (p.Ser1469=) c.4310G= (p.Ser1437=) c.4211G= (p.Ser1404=) c.477G= c.437G= (p.Ser146=) c.251G= (p.Ser84=) n.2551G= c.2804G= (p.Ser935=) c.1767G= c.4307G= (p.Ser1436=) c.2867G= (p.Ser956=) c.4220G= (p.Ser1407=) c.2595G= c.4316G= (p.Ser1439=) c.2674G= n.803G= c.3733G= c.2947G= c.2982G= c.2964G= c.2798G= (p.Ser933=) c.859G= c.8G= (p.Ser3=) c.2221G= (n.2221G=) c.2653G= c.2158G= (n.2158G=) c.2610G= n.813G= c.2564G= (p.Ser855=) c.4412G= (p.Ser1471=) n.624G= n.2748G= n.2283G= c.389G= (p.Ser130=) n.2133G= c.4319G= (p.Ser1440=) n.4700G= | |
19 | g.11041446G>T | CA404073776 | SMARCA4 | c.4406G>T (p.Ser1469Ile) c.4310G>T (p.Ser1437Ile) c.4211G>T (p.Ser1404Ile) c.477G>T c.437G>T (p.Ser146Ile) c.251G>T (p.Ser84Ile) n.2551G>T c.2804G>T (p.Ser935Ile) c.1767G>T c.4307G>T (p.Ser1436Ile) c.2867G>T (p.Ser956Ile) c.4220G>T (p.Ser1407Ile) c.2595G>T c.4316G>T (p.Ser1439Ile) c.2674G>T n.803G>T c.3733G>T c.2947G>T c.2982G>T c.2964G>T c.2798G>T (p.Ser933Ile) c.859G>T c.8G>T (p.Ser3Ile) c.2221G>T (n.2221G>T) c.2653G>T c.2158G>T (n.2158G>T) c.2610G>T n.813G>T c.2564G>T (p.Ser855Ile) c.4412G>T (p.Ser1471Ile) n.624G>T n.2748G>T n.2283G>T c.389G>T (p.Ser130Ile) n.2133G>T c.4319G>T (p.Ser1440Ile) n.4700G>T | ClinVar dbSNP |
19 | g.11041446_11041447delinsAA | CA348583 | SMARCA4 | c.4406_4407delinsAA (p.Ser1469Lys) c.4310_4311delinsAA (p.Ser1437Lys) c.4211_4212delinsAA (p.Ser1404Lys) c.477_478delinsAA c.437_438delinsAA (p.Ser146Lys) c.251_252delinsAA (p.Ser84Lys) n.2551_2552delinsAA c.2804_2805delinsAA (p.Ser935Lys) c.1767_1768delinsAA c.4307_4308delinsAA (p.Ser1436Lys) c.2867_2868delinsAA (p.Ser956Lys) c.4220_4221delinsAA (p.Ser1407Lys) c.2595_2596delinsAA c.4316_4317delinsAA (p.Ser1439Lys) c.2674_2675delinsAA n.803_804delinsAA c.3733_3734delinsAA c.2947_2948delinsAA c.2982_2983delinsAA c.2964_2965delinsAA c.2798_2799delinsAA (p.Ser933Lys) c.859_860delinsAA c.8_9delinsAA (p.Ser3Lys) c.2221_2222delinsAA (n.2221_2222delinsAA) c.2653_2654delinsAA c.2158_2159delinsAA (n.2158_2159delinsAA) c.2610_2611delinsAA n.813_814delinsAA c.2564_2565delinsAA (p.Ser855Lys) c.4412_4413delinsAA (p.Ser1471Lys) n.624_625delinsAA n.2748_2749delinsAA n.2283_2284delinsAA c.389_390delinsAA (p.Ser130Lys) n.2133_2134delinsAA c.4319_4320delinsAA (p.Ser1440Lys) n.4700_4701delinsAA | ClinVar dbSNP |
19 | g.11041446_11041447delinsGC | CA2322735041 | SMARCA4 | c.4406_4407delinsGC (p.Ser1469=) c.4310_4311delinsGC (p.Ser1437=) c.4211_4212delinsGC (p.Ser1404=) c.477_478delinsGC c.437_438delinsGC (p.Ser146=) c.251_252delinsGC (p.Ser84=) n.2551_2552delinsGC c.2804_2805delinsGC (p.Ser935=) c.1767_1768delinsGC c.4307_4308delinsGC (p.Ser1436=) c.2867_2868delinsGC (p.Ser956=) c.4220_4221delinsGC (p.Ser1407=) c.2595_2596delinsGC c.4316_4317delinsGC (p.Ser1439=) c.2674_2675delinsGC n.803_804delinsGC c.3733_3734delinsGC c.2947_2948delinsGC c.2982_2983delinsGC c.2964_2965delinsGC c.2798_2799delinsGC (p.Ser933=) c.859_860delinsGC c.8_9delinsGC (p.Ser3=) c.2221_2222delinsGC (n.2221_2222delinsGC) c.2653_2654delinsGC c.2158_2159delinsGC (n.2158_2159delinsGC) c.2610_2611delinsGC n.813_814delinsGC c.2564_2565delinsGC (p.Ser855=) c.4412_4413delinsGC (p.Ser1471=) n.624_625delinsGC n.2748_2749delinsGC n.2283_2284delinsGC c.389_390delinsGC (p.Ser130=) n.2133_2134delinsGC c.4319_4320delinsGC (p.Ser1440=) n.4700_4701delinsGC | |
19 | g.11041447C>A | CA404073778 | SMARCA4 | c.4407C>A (p.Ser1469Arg) c.4311C>A (p.Ser1437Arg) c.4212C>A (p.Ser1404Arg) c.478C>A c.438C>A (p.Ser146Arg) c.252C>A (p.Ser84Arg) n.2552C>A c.2805C>A (p.Ser935Arg) c.1768C>A c.4308C>A (p.Ser1436Arg) c.2868C>A (p.Ser956Arg) c.4221C>A (p.Ser1407Arg) c.2596C>A c.4317C>A (p.Ser1439Arg) c.2675C>A n.804C>A c.3734C>A c.2948C>A c.2983C>A c.2965C>A c.2799C>A (p.Ser933Arg) c.860C>A c.9C>A (p.Ser3Arg) c.2222C>A (n.2222C>A) c.2654C>A c.2159C>A (n.2159C>A) c.2611C>A n.814C>A c.2565C>A (p.Ser855Arg) c.4413C>A (p.Ser1471Arg) n.625C>A n.2749C>A n.2284C>A c.390C>A (p.Ser130Arg) n.2134C>A c.4320C>A (p.Ser1440Arg) n.4701C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11041447C= | CA2322735045 | SMARCA4 | c.4407C= (p.Ser1469=) c.4311C= (p.Ser1437=) c.4212C= (p.Ser1404=) c.478C= c.438C= (p.Ser146=) c.252C= (p.Ser84=) n.2552C= c.2805C= (p.Ser935=) c.1768C= c.4308C= (p.Ser1436=) c.2868C= (p.Ser956=) c.4221C= (p.Ser1407=) c.2596C= c.4317C= (p.Ser1439=) c.2675C= n.804C= c.3734C= c.2948C= c.2983C= c.2965C= c.2799C= (p.Ser933=) c.860C= c.9C= (p.Ser3=) c.2222C= (n.2222C=) c.2654C= c.2159C= (n.2159C=) c.2611C= n.814C= c.2565C= (p.Ser855=) c.4413C= (p.Ser1471=) n.625C= n.2749C= n.2284C= c.390C= (p.Ser130=) n.2134C= c.4320C= (p.Ser1440=) n.4701C= | |
19 | g.11041447C>G | CA404073779 | SMARCA4 | c.4407C>G (p.Ser1469Arg) c.4311C>G (p.Ser1437Arg) c.4212C>G (p.Ser1404Arg) c.478C>G c.438C>G (p.Ser146Arg) c.252C>G (p.Ser84Arg) n.2552C>G c.2805C>G (p.Ser935Arg) c.1768C>G c.4308C>G (p.Ser1436Arg) c.2868C>G (p.Ser956Arg) c.4221C>G (p.Ser1407Arg) c.2596C>G c.4317C>G (p.Ser1439Arg) c.2675C>G n.804C>G c.3734C>G c.2948C>G c.2983C>G c.2965C>G c.2799C>G (p.Ser933Arg) c.860C>G c.9C>G (p.Ser3Arg) c.2222C>G (n.2222C>G) c.2654C>G c.2159C>G (n.2159C>G) c.2611C>G n.814C>G c.2565C>G (p.Ser855Arg) c.4413C>G (p.Ser1471Arg) n.625C>G n.2749C>G n.2284C>G c.390C>G (p.Ser130Arg) n.2134C>G c.4320C>G (p.Ser1440Arg) n.4701C>G | dbSNP |
19 | g.11041447C>T | CA505743879 | SMARCA4 | c.4407C>T (p.Ser1469=) c.4311C>T (p.Ser1437=) c.4212C>T (p.Ser1404=) c.478C>T c.438C>T (p.Ser146=) c.252C>T (p.Ser84=) n.2552C>T c.2805C>T (p.Ser935=) c.1768C>T c.4308C>T (p.Ser1436=) c.2868C>T (p.Ser956=) c.4221C>T (p.Ser1407=) c.2596C>T c.4317C>T (p.Ser1439=) c.2675C>T n.804C>T c.3734C>T c.2948C>T c.2983C>T c.2965C>T c.2799C>T (p.Ser933=) c.860C>T c.9C>T (p.Ser3=) c.2222C>T (n.2222C>T) c.2654C>T c.2159C>T (n.2159C>T) c.2611C>T n.814C>T c.2565C>T (p.Ser855=) c.4413C>T (p.Ser1471=) n.625C>T n.2749C>T n.2284C>T c.390C>T (p.Ser130=) n.2134C>T c.4320C>T (p.Ser1440=) n.4701C>T | dbSNP |
19 | g.11041448A>C | CA404073787 | SMARCA4 | c.4408A>C (p.Lys1470Gln) c.4312A>C (p.Lys1438Gln) c.4213A>C (p.Lys1405Gln) c.479A>C c.439A>C (p.Lys147Gln) c.253A>C (p.Lys85Gln) n.2553A>C c.2806A>C (p.Lys936Gln) c.1769A>C c.4309A>C (p.Lys1437Gln) c.2869A>C (p.Lys957Gln) c.4222A>C (p.Lys1408Gln) c.2597A>C c.4318A>C (p.Lys1440Gln) c.2676A>C n.805A>C c.3735A>C c.2949A>C c.2984A>C c.2966A>C c.2800A>C (p.Lys934Gln) c.861A>C c.10A>C (p.Lys4Gln) c.2223A>C (n.2223A>C) c.2655A>C c.2160A>C (n.2160A>C) c.2612A>C n.815A>C c.2566A>C (p.Lys856Gln) c.4414A>C (p.Lys1472Gln) n.626A>C n.2750A>C n.2285A>C c.391A>C (p.Lys131Gln) n.2135A>C c.4321A>C (p.Lys1441Gln) n.4702A>C | |
19 | g.11041448A>G | CA404073783 | SMARCA4 | c.4408A>G (p.Lys1470Glu) c.4312A>G (p.Lys1438Glu) c.4213A>G (p.Lys1405Glu) c.479A>G c.439A>G (p.Lys147Glu) c.253A>G (p.Lys85Glu) n.2553A>G c.2806A>G (p.Lys936Glu) c.1769A>G c.4309A>G (p.Lys1437Glu) c.2869A>G (p.Lys957Glu) c.4222A>G (p.Lys1408Glu) c.2597A>G c.4318A>G (p.Lys1440Glu) c.2676A>G n.805A>G c.3735A>G c.2949A>G c.2984A>G c.2966A>G c.2800A>G (p.Lys934Glu) c.861A>G c.10A>G (p.Lys4Glu) c.2223A>G (n.2223A>G) c.2655A>G c.2160A>G (n.2160A>G) c.2612A>G n.815A>G c.2566A>G (p.Lys856Glu) c.4414A>G (p.Lys1472Glu) n.626A>G n.2750A>G n.2285A>G c.391A>G (p.Lys131Glu) n.2135A>G c.4321A>G (p.Lys1441Glu) n.4702A>G | dbSNP |
19 | g.11041448A>T | CA404073785 | SMARCA4 | c.4408A>T (p.Lys1470Ter) c.4312A>T (p.Lys1438Ter) c.4213A>T (p.Lys1405Ter) c.479A>T c.439A>T (p.Lys147Ter) c.253A>T (p.Lys85Ter) n.2553A>T c.2806A>T (p.Lys936Ter) c.1769A>T c.4309A>T (p.Lys1437Ter) c.2869A>T (p.Lys957Ter) c.4222A>T (p.Lys1408Ter) c.2597A>T c.4318A>T (p.Lys1440Ter) c.2676A>T n.805A>T c.3735A>T c.2949A>T c.2984A>T c.2966A>T c.2800A>T (p.Lys934Ter) c.861A>T c.10A>T (p.Lys4Ter) c.2223A>T (n.2223A>T) c.2655A>T c.2160A>T (n.2160A>T) c.2612A>T n.815A>T c.2566A>T (p.Lys856Ter) c.4414A>T (p.Lys1472Ter) n.626A>T n.2750A>T n.2285A>T c.391A>T (p.Lys131Ter) n.2135A>T c.4321A>T (p.Lys1441Ter) n.4702A>T | |
19 | g.11041449A>C | CA404073792 | SMARCA4 | c.4409A>C (p.Lys1470Thr) c.4313A>C (p.Lys1438Thr) c.4214A>C (p.Lys1405Thr) c.480A>C c.440A>C (p.Lys147Thr) c.254A>C (p.Lys85Thr) n.2554A>C c.2807A>C (p.Lys936Thr) c.1770A>C c.4310A>C (p.Lys1437Thr) c.2870A>C (p.Lys957Thr) c.4223A>C (p.Lys1408Thr) c.2598A>C c.4319A>C (p.Lys1440Thr) c.2677A>C n.806A>C c.3736A>C c.2950A>C c.2985A>C c.2967A>C c.2801A>C (p.Lys934Thr) c.862A>C c.11A>C (p.Lys4Thr) c.2224A>C (n.2224A>C) c.2656A>C c.2161A>C (n.2161A>C) c.2613A>C n.816A>C c.2567A>C (p.Lys856Thr) c.4415A>C (p.Lys1472Thr) n.627A>C n.2751A>C n.2286A>C c.392A>C (p.Lys131Thr) n.2136A>C c.4322A>C (p.Lys1441Thr) n.4703A>C | |
19 | g.11041449A>G | CA404073794 | SMARCA4 | c.4409A>G (p.Lys1470Arg) c.4313A>G (p.Lys1438Arg) c.4214A>G (p.Lys1405Arg) c.480A>G c.440A>G (p.Lys147Arg) c.254A>G (p.Lys85Arg) n.2554A>G c.2807A>G (p.Lys936Arg) c.1770A>G c.4310A>G (p.Lys1437Arg) c.2870A>G (p.Lys957Arg) c.4223A>G (p.Lys1408Arg) c.2598A>G c.4319A>G (p.Lys1440Arg) c.2677A>G n.806A>G c.3736A>G c.2950A>G c.2985A>G c.2967A>G c.2801A>G (p.Lys934Arg) c.862A>G c.11A>G (p.Lys4Arg) c.2224A>G (n.2224A>G) c.2656A>G c.2161A>G (n.2161A>G) c.2613A>G n.816A>G c.2567A>G (p.Lys856Arg) c.4415A>G (p.Lys1472Arg) n.627A>G n.2751A>G n.2286A>G c.392A>G (p.Lys131Arg) n.2136A>G c.4322A>G (p.Lys1441Arg) n.4703A>G | |
19 | g.11041449A>T | CA404073797 | SMARCA4 | c.4409A>T (p.Lys1470Met) c.4313A>T (p.Lys1438Met) c.4214A>T (p.Lys1405Met) c.480A>T c.440A>T (p.Lys147Met) c.254A>T (p.Lys85Met) n.2554A>T c.2807A>T (p.Lys936Met) c.1770A>T c.4310A>T (p.Lys1437Met) c.2870A>T (p.Lys957Met) c.4223A>T (p.Lys1408Met) c.2598A>T c.4319A>T (p.Lys1440Met) c.2677A>T n.806A>T c.3736A>T c.2950A>T c.2985A>T c.2967A>T c.2801A>T (p.Lys934Met) c.862A>T c.11A>T (p.Lys4Met) c.2224A>T (n.2224A>T) c.2656A>T c.2161A>T (n.2161A>T) c.2613A>T n.816A>T c.2567A>T (p.Lys856Met) c.4415A>T (p.Lys1472Met) n.627A>T n.2751A>T n.2286A>T c.392A>T (p.Lys131Met) n.2136A>T c.4322A>T (p.Lys1441Met) n.4703A>T | dbSNP |
19 | g.11041450G>A | CA505743884 | SMARCA4 | c.4410G>A (p.Lys1470=) c.4314G>A (p.Lys1438=) c.4215G>A (p.Lys1405=) c.481G>A c.441G>A (p.Lys147=) c.255G>A (p.Lys85=) n.2555G>A c.2808G>A (p.Lys936=) c.1771G>A c.4311G>A (p.Lys1437=) c.2871G>A (p.Lys957=) c.4224G>A (p.Lys1408=) c.2599G>A c.4320G>A (p.Lys1440=) c.2678G>A n.807G>A c.3737G>A c.2951G>A c.2986G>A c.2968G>A c.2802G>A (p.Lys934=) c.863G>A c.12G>A (p.Lys4=) c.2225G>A (n.2225G>A) c.2657G>A c.2162G>A (n.2162G>A) c.2614G>A n.817G>A c.2568G>A (p.Lys856=) c.4416G>A (p.Lys1472=) n.628G>A n.2752G>A n.2287G>A c.393G>A (p.Lys131=) n.2137G>A c.4323G>A (p.Lys1441=) n.4704G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.11041450G>C | CA404073800 | SMARCA4 | c.4410G>C (p.Lys1470Asn) c.4314G>C (p.Lys1438Asn) c.4215G>C (p.Lys1405Asn) c.481G>C c.441G>C (p.Lys147Asn) c.255G>C (p.Lys85Asn) n.2555G>C c.2808G>C (p.Lys936Asn) c.1771G>C c.4311G>C (p.Lys1437Asn) c.2871G>C (p.Lys957Asn) c.4224G>C (p.Lys1408Asn) c.2599G>C c.4320G>C (p.Lys1440Asn) c.2678G>C n.807G>C c.3737G>C c.2951G>C c.2986G>C c.2968G>C c.2802G>C (p.Lys934Asn) c.863G>C c.12G>C (p.Lys4Asn) c.2225G>C (n.2225G>C) c.2657G>C c.2162G>C (n.2162G>C) c.2614G>C n.817G>C c.2568G>C (p.Lys856Asn) c.4416G>C (p.Lys1472Asn) n.628G>C n.2752G>C n.2287G>C c.393G>C (p.Lys131Asn) n.2137G>C c.4323G>C (p.Lys1441Asn) n.4704G>C | dbSNP gnomAD v4 |
19 | g.11041450G= | CA2322735047 | SMARCA4 | c.4410G= (p.Lys1470=) c.4314G= (p.Lys1438=) c.4215G= (p.Lys1405=) c.481G= c.441G= (p.Lys147=) c.255G= (p.Lys85=) n.2555G= c.2808G= (p.Lys936=) c.1771G= c.4311G= (p.Lys1437=) c.2871G= (p.Lys957=) c.4224G= (p.Lys1408=) c.2599G= c.4320G= (p.Lys1440=) c.2678G= n.807G= c.3737G= c.2951G= c.2986G= c.2968G= c.2802G= (p.Lys934=) c.863G= c.12G= (p.Lys4=) c.2225G= (n.2225G=) c.2657G= c.2162G= (n.2162G=) c.2614G= n.817G= c.2568G= (p.Lys856=) c.4416G= (p.Lys1472=) n.628G= n.2752G= n.2287G= c.393G= (p.Lys131=) n.2137G= c.4323G= (p.Lys1441=) n.4704G= | |
19 | g.11041450G>T | CA404073802 | SMARCA4 | c.4410G>T (p.Lys1470Asn) c.4314G>T (p.Lys1438Asn) c.4215G>T (p.Lys1405Asn) c.481G>T c.441G>T (p.Lys147Asn) c.255G>T (p.Lys85Asn) n.2555G>T c.2808G>T (p.Lys936Asn) c.1771G>T c.4311G>T (p.Lys1437Asn) c.2871G>T (p.Lys957Asn) c.4224G>T (p.Lys1408Asn) c.2599G>T c.4320G>T (p.Lys1440Asn) c.2678G>T n.807G>T c.3737G>T c.2951G>T c.2986G>T c.2968G>T c.2802G>T (p.Lys934Asn) c.863G>T c.12G>T (p.Lys4Asn) c.2225G>T (n.2225G>T) c.2657G>T c.2162G>T (n.2162G>T) c.2614G>T n.817G>T c.2568G>T (p.Lys856Asn) c.4416G>T (p.Lys1472Asn) n.628G>T n.2752G>T n.2287G>T c.393G>T (p.Lys131Asn) n.2137G>T c.4323G>T (p.Lys1441Asn) n.4704G>T | dbSNP |
19 | g.11041451A>C | CA404073807 | SMARCA4 | c.4411A>C (p.Lys1471Gln) c.4315A>C (p.Lys1439Gln) c.4216A>C (p.Lys1406Gln) c.482A>C c.442A>C (p.Lys148Gln) c.256A>C (p.Lys86Gln) n.2556A>C c.2809A>C (p.Lys937Gln) c.1772A>C c.4312A>C (p.Lys1438Gln) c.2872A>C (p.Lys958Gln) c.4225A>C (p.Lys1409Gln) c.2600A>C c.4321A>C (p.Lys1441Gln) c.2679A>C n.808A>C c.3738A>C c.2952A>C c.2987A>C c.2969A>C c.2803A>C (p.Lys935Gln) c.864A>C c.13A>C (p.Lys5Gln) c.2226A>C (n.2226A>C) c.2658A>C c.2163A>C (n.2163A>C) c.2615A>C n.818A>C c.2569A>C (p.Lys857Gln) c.4417A>C (p.Lys1473Gln) n.629A>C n.2753A>C n.2288A>C c.394A>C (p.Lys132Gln) n.2138A>C c.4324A>C (p.Lys1442Gln) n.4705A>C | ClinVar dbSNP COSMIC COSMIC |
19 | g.11041451A>G | CA404073805 | SMARCA4 | c.4411A>G (p.Lys1471Glu) c.4315A>G (p.Lys1439Glu) c.4216A>G (p.Lys1406Glu) c.482A>G c.442A>G (p.Lys148Glu) c.256A>G (p.Lys86Glu) n.2556A>G c.2809A>G (p.Lys937Glu) c.1772A>G c.4312A>G (p.Lys1438Glu) c.2872A>G (p.Lys958Glu) c.4225A>G (p.Lys1409Glu) c.2600A>G c.4321A>G (p.Lys1441Glu) c.2679A>G n.808A>G c.3738A>G c.2952A>G c.2987A>G c.2969A>G c.2803A>G (p.Lys935Glu) c.864A>G c.13A>G (p.Lys5Glu) c.2226A>G (n.2226A>G) c.2658A>G c.2163A>G (n.2163A>G) c.2615A>G n.818A>G c.2569A>G (p.Lys857Glu) c.4417A>G (p.Lys1473Glu) n.629A>G n.2753A>G n.2288A>G c.394A>G (p.Lys132Glu) n.2138A>G c.4324A>G (p.Lys1442Glu) n.4705A>G | dbSNP |
19 | g.11041451A>T | CA404073804 | SMARCA4 | c.4411A>T (p.Lys1471Ter) c.4315A>T (p.Lys1439Ter) c.4216A>T (p.Lys1406Ter) c.482A>T c.442A>T (p.Lys148Ter) c.256A>T (p.Lys86Ter) n.2556A>T c.2809A>T (p.Lys937Ter) c.1772A>T c.4312A>T (p.Lys1438Ter) c.2872A>T (p.Lys958Ter) c.4225A>T (p.Lys1409Ter) c.2600A>T c.4321A>T (p.Lys1441Ter) c.2679A>T n.808A>T c.3738A>T c.2952A>T c.2987A>T c.2969A>T c.2803A>T (p.Lys935Ter) c.864A>T c.13A>T (p.Lys5Ter) c.2226A>T (n.2226A>T) c.2658A>T c.2163A>T (n.2163A>T) c.2615A>T n.818A>T c.2569A>T (p.Lys857Ter) c.4417A>T (p.Lys1473Ter) n.629A>T n.2753A>T n.2288A>T c.394A>T (p.Lys132Ter) n.2138A>T c.4324A>T (p.Lys1442Ter) n.4705A>T | dbSNP |
19 | g.11041451_11041454delinsAAGC | CA2322735049 | SMARCA4 | c.4411_4414delinsAAGC (p.Lys1471=) c.4315_4318delinsAAGC (p.Lys1439=) c.4216_4219delinsAAGC (p.Lys1406=) c.482_485delinsAAGC c.442_445delinsAAGC (p.Lys148=) c.256_259delinsAAGC (p.Lys86=) n.2556_2559delinsAAGC c.2809_2812delinsAAGC (p.Lys937=) c.1772_1775delinsAAGC c.4312_4315delinsAAGC (p.Lys1438=) c.2872_2875delinsAAGC (p.Lys958=) c.4225_4228delinsAAGC (p.Lys1409=) c.2600_2603delinsAAGC c.4321_4324delinsAAGC (p.Lys1441=) c.2679_2682delinsAAGC n.808_811delinsAAGC c.3738_3741delinsAAGC c.2952_2955delinsAAGC c.2987_2990delinsAAGC c.2969_2972delinsAAGC c.2803_2806delinsAAGC (p.Lys935=) c.864_867delinsAAGC c.13_16delinsAAGC (p.Lys5=) c.2226_2229delinsAAGC (n.2226_2229delinsAAGC) c.2658_2661delinsAAGC c.2163_2166delinsAAGC (n.2163_2166delinsAAGC) c.2615_2618delinsAAGC n.818_821delinsAAGC c.2569_2572delinsAAGC (p.Lys857=) c.4417_4420delinsAAGC (p.Lys1473=) n.629_632delinsAAGC n.2753_2756delinsAAGC n.2288_2291delinsAAGC c.394_397delinsAAGC (p.Lys132=) n.2138_2141delinsAAGC c.4324_4327delinsAAGC (p.Lys1442=) n.4705_4708delinsAAGC | |
19 | g.11041452A= | CA2322735050 | SMARCA4 | c.4412A= (p.Lys1471=) c.4316A= (p.Lys1439=) c.4217A= (p.Lys1406=) c.483A= c.443A= (p.Lys148=) c.257A= (p.Lys86=) n.2557A= c.2810A= (p.Lys937=) c.1773A= c.4313A= (p.Lys1438=) c.2873A= (p.Lys958=) c.4226A= (p.Lys1409=) c.2601A= c.4322A= (p.Lys1441=) c.2680A= n.809A= c.3739A= c.2953A= c.2988A= c.2970A= c.2804A= (p.Lys935=) c.865A= c.14A= (p.Lys5=) c.2227A= (n.2227A=) c.2659A= c.2164A= (n.2164A=) c.2616A= n.819A= c.2570A= (p.Lys857=) c.4418A= (p.Lys1473=) n.630A= n.2754A= n.2289A= c.395A= (p.Lys132=) n.2139A= c.4325A= (p.Lys1442=) n.4706A= | |
19 | g.11041452A>C | CA404073809 | SMARCA4 | c.4412A>C (p.Lys1471Thr) c.4316A>C (p.Lys1439Thr) c.4217A>C (p.Lys1406Thr) c.483A>C c.443A>C (p.Lys148Thr) c.257A>C (p.Lys86Thr) n.2557A>C c.2810A>C (p.Lys937Thr) c.1773A>C c.4313A>C (p.Lys1438Thr) c.2873A>C (p.Lys958Thr) c.4226A>C (p.Lys1409Thr) c.2601A>C c.4322A>C (p.Lys1441Thr) c.2680A>C n.809A>C c.3739A>C c.2953A>C c.2988A>C c.2970A>C c.2804A>C (p.Lys935Thr) c.865A>C c.14A>C (p.Lys5Thr) c.2227A>C (n.2227A>C) c.2659A>C c.2164A>C (n.2164A>C) c.2616A>C n.819A>C c.2570A>C (p.Lys857Thr) c.4418A>C (p.Lys1473Thr) n.630A>C n.2754A>C n.2289A>C c.395A>C (p.Lys132Thr) n.2139A>C c.4325A>C (p.Lys1442Thr) n.4706A>C | |
19 | g.11041452A>G | CA404073810 | SMARCA4 | c.4412A>G (p.Lys1471Arg) c.4316A>G (p.Lys1439Arg) c.4217A>G (p.Lys1406Arg) c.483A>G c.443A>G (p.Lys148Arg) c.257A>G (p.Lys86Arg) n.2557A>G c.2810A>G (p.Lys937Arg) c.1773A>G c.4313A>G (p.Lys1438Arg) c.2873A>G (p.Lys958Arg) c.4226A>G (p.Lys1409Arg) c.2601A>G c.4322A>G (p.Lys1441Arg) c.2680A>G n.809A>G c.3739A>G c.2953A>G c.2988A>G c.2970A>G c.2804A>G (p.Lys935Arg) c.865A>G c.14A>G (p.Lys5Arg) c.2227A>G (n.2227A>G) c.2659A>G c.2164A>G (n.2164A>G) c.2616A>G n.819A>G c.2570A>G (p.Lys857Arg) c.4418A>G (p.Lys1473Arg) n.630A>G n.2754A>G n.2289A>G c.395A>G (p.Lys132Arg) n.2139A>G c.4325A>G (p.Lys1442Arg) n.4706A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.11041452A>T | CA404073811 | SMARCA4 | c.4412A>T (p.Lys1471Met) c.4316A>T (p.Lys1439Met) c.4217A>T (p.Lys1406Met) c.483A>T c.443A>T (p.Lys148Met) c.257A>T (p.Lys86Met) n.2557A>T c.2810A>T (p.Lys937Met) c.1773A>T c.4313A>T (p.Lys1438Met) c.2873A>T (p.Lys958Met) c.4226A>T (p.Lys1409Met) c.2601A>T c.4322A>T (p.Lys1441Met) c.2680A>T n.809A>T c.3739A>T c.2953A>T c.2988A>T c.2970A>T c.2804A>T (p.Lys935Met) c.865A>T c.14A>T (p.Lys5Met) c.2227A>T (n.2227A>T) c.2659A>T c.2164A>T (n.2164A>T) c.2616A>T n.819A>T c.2570A>T (p.Lys857Met) c.4418A>T (p.Lys1473Met) n.630A>T n.2754A>T n.2289A>T c.395A>T (p.Lys132Met) n.2139A>T c.4325A>T (p.Lys1442Met) n.4706A>T | dbSNP |
19 | g.11041454_11041456del | CA9204701 | SMARCA4 | c.4414_4416del (p.Gln1472del) c.4318_4320del (p.Gln1440del) c.4219_4221del (p.Gln1407del) c.485_487del c.445_447del (p.Gln149del) c.259_261del (p.Gln87del) n.2559_2561del c.2812_2814del (p.Gln938del) c.1775_1777del c.4315_4317del (p.Gln1439del) c.2875_2877del (p.Gln959del) c.4228_4230del (p.Gln1410del) c.2603_2605del c.4324_4326del (p.Gln1442del) c.2682_2684del n.811_813del c.3741_3743del c.2955_2957del c.2990_2992del c.2972_2974del c.2806_2808del (p.Gln936del) c.867_869del c.16_18del (p.Gln6del) c.2229_2231del (n.2229_2231del) c.2661_2663del c.2166_2168del (n.2166_2168del) c.2618_2620del n.821_823del c.2572_2574del (p.Gln858del) c.4420_4422del (p.Gln1474del) n.632_634del n.2756_2758del n.2291_2293del c.397_399del (p.Gln133del) n.2141_2143del c.4327_4329del (p.Gln1443del) n.4708_4710del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11041453G>A | CA505743886 | SMARCA4 | c.4413G>A (p.Lys1471=) c.4317G>A (p.Lys1439=) c.4218G>A (p.Lys1406=) c.484G>A c.444G>A (p.Lys148=) c.258G>A (p.Lys86=) n.2558G>A c.2811G>A (p.Lys937=) c.1774G>A c.4314G>A (p.Lys1438=) c.2874G>A (p.Lys958=) c.4227G>A (p.Lys1409=) c.2602G>A c.4323G>A (p.Lys1441=) c.2681G>A n.810G>A c.3740G>A c.2954G>A c.2989G>A c.2971G>A c.2805G>A (p.Lys935=) c.866G>A c.15G>A (p.Lys5=) c.2228G>A (n.2228G>A) c.2660G>A c.2165G>A (n.2165G>A) c.2617G>A n.820G>A c.2571G>A (p.Lys857=) c.4419G>A (p.Lys1473=) n.631G>A n.2755G>A n.2290G>A c.396G>A (p.Lys132=) n.2140G>A c.4326G>A (p.Lys1442=) n.4707G>A | dbSNP |
19 | g.11041453G>C | CA404073812 | SMARCA4 | c.4413G>C (p.Lys1471Asn) c.4317G>C (p.Lys1439Asn) c.4218G>C (p.Lys1406Asn) c.484G>C c.444G>C (p.Lys148Asn) c.258G>C (p.Lys86Asn) n.2558G>C c.2811G>C (p.Lys937Asn) c.1774G>C c.4314G>C (p.Lys1438Asn) c.2874G>C (p.Lys958Asn) c.4227G>C (p.Lys1409Asn) c.2602G>C c.4323G>C (p.Lys1441Asn) c.2681G>C n.810G>C c.3740G>C c.2954G>C c.2989G>C c.2971G>C c.2805G>C (p.Lys935Asn) c.866G>C c.15G>C (p.Lys5Asn) c.2228G>C (n.2228G>C) c.2660G>C c.2165G>C (n.2165G>C) c.2617G>C n.820G>C c.2571G>C (p.Lys857Asn) c.4419G>C (p.Lys1473Asn) n.631G>C n.2755G>C n.2290G>C c.396G>C (p.Lys132Asn) n.2140G>C c.4326G>C (p.Lys1442Asn) n.4707G>C | dbSNP |
19 | g.11041453G= | CA2322735052 | SMARCA4 | c.4413G= (p.Lys1471=) c.4317G= (p.Lys1439=) c.4218G= (p.Lys1406=) c.484G= c.444G= (p.Lys148=) c.258G= (p.Lys86=) n.2558G= c.2811G= (p.Lys937=) c.1774G= c.4314G= (p.Lys1438=) c.2874G= (p.Lys958=) c.4227G= (p.Lys1409=) c.2602G= c.4323G= (p.Lys1441=) c.2681G= n.810G= c.3740G= c.2954G= c.2989G= c.2971G= c.2805G= (p.Lys935=) c.866G= c.15G= (p.Lys5=) c.2228G= (n.2228G=) c.2660G= c.2165G= (n.2165G=) c.2617G= n.820G= c.2571G= (p.Lys857=) c.4419G= (p.Lys1473=) n.631G= n.2755G= n.2290G= c.396G= (p.Lys132=) n.2140G= c.4326G= (p.Lys1442=) n.4707G= | |
19 | g.11041453G>T | CA404073814 | SMARCA4 | c.4413G>T (p.Lys1471Asn) c.4317G>T (p.Lys1439Asn) c.4218G>T (p.Lys1406Asn) c.484G>T c.444G>T (p.Lys148Asn) c.258G>T (p.Lys86Asn) n.2558G>T c.2811G>T (p.Lys937Asn) c.1774G>T c.4314G>T (p.Lys1438Asn) c.2874G>T (p.Lys958Asn) c.4227G>T (p.Lys1409Asn) c.2602G>T c.4323G>T (p.Lys1441Asn) c.2681G>T n.810G>T c.3740G>T c.2954G>T c.2989G>T c.2971G>T c.2805G>T (p.Lys935Asn) c.866G>T c.15G>T (p.Lys5Asn) c.2228G>T (n.2228G>T) c.2660G>T c.2165G>T (n.2165G>T) c.2617G>T n.820G>T c.2571G>T (p.Lys857Asn) c.4419G>T (p.Lys1473Asn) n.631G>T n.2755G>T n.2290G>T c.396G>T (p.Lys132Asn) n.2140G>T c.4326G>T (p.Lys1442Asn) n.4707G>T | dbSNP |
19 | g.11041454C>A | CA404073816 | SMARCA4 | c.4414C>A (p.Gln1472Lys) c.4318C>A (p.Gln1440Lys) c.4219C>A (p.Gln1407Lys) c.485C>A c.445C>A (p.Gln149Lys) c.259C>A (p.Gln87Lys) n.2559C>A c.2812C>A (p.Gln938Lys) c.1775C>A c.4315C>A (p.Gln1439Lys) c.2875C>A (p.Gln959Lys) c.4228C>A (p.Gln1410Lys) c.2603C>A c.4324C>A (p.Gln1442Lys) c.2682C>A n.811C>A c.3741C>A c.2955C>A c.2990C>A c.2972C>A c.2806C>A (p.Gln936Lys) c.867C>A c.16C>A (p.Gln6Lys) c.2229C>A (n.2229C>A) c.2661C>A c.2166C>A (n.2166C>A) c.2618C>A n.821C>A c.2572C>A (p.Gln858Lys) c.4420C>A (p.Gln1474Lys) n.632C>A n.2756C>A n.2291C>A c.397C>A (p.Gln133Lys) n.2141C>A c.4327C>A (p.Gln1443Lys) n.4708C>A | dbSNP |
19 | g.11041454C>G | CA404073821 | SMARCA4 | c.4414C>G (p.Gln1472Glu) c.4318C>G (p.Gln1440Glu) c.4219C>G (p.Gln1407Glu) c.485C>G c.445C>G (p.Gln149Glu) c.259C>G (p.Gln87Glu) n.2559C>G c.2812C>G (p.Gln938Glu) c.1775C>G c.4315C>G (p.Gln1439Glu) c.2875C>G (p.Gln959Glu) c.4228C>G (p.Gln1410Glu) c.2603C>G c.4324C>G (p.Gln1442Glu) c.2682C>G n.811C>G c.3741C>G c.2955C>G c.2990C>G c.2972C>G c.2806C>G (p.Gln936Glu) c.867C>G c.16C>G (p.Gln6Glu) c.2229C>G (n.2229C>G) c.2661C>G c.2166C>G (n.2166C>G) c.2618C>G n.821C>G c.2572C>G (p.Gln858Glu) c.4420C>G (p.Gln1474Glu) n.632C>G n.2756C>G n.2291C>G c.397C>G (p.Gln133Glu) n.2141C>G c.4327C>G (p.Gln1443Glu) n.4708C>G | dbSNP gnomAD v4 |
19 | g.11041454C>T | CA404073817 | SMARCA4 | c.4414C>T (p.Gln1472Ter) c.4318C>T (p.Gln1440Ter) c.4219C>T (p.Gln1407Ter) c.485C>T c.445C>T (p.Gln149Ter) c.259C>T (p.Gln87Ter) n.2559C>T c.2812C>T (p.Gln938Ter) c.1775C>T c.4315C>T (p.Gln1439Ter) c.2875C>T (p.Gln959Ter) c.4228C>T (p.Gln1410Ter) c.2603C>T c.4324C>T (p.Gln1442Ter) c.2682C>T n.811C>T c.3741C>T c.2955C>T c.2990C>T c.2972C>T c.2806C>T (p.Gln936Ter) c.867C>T c.16C>T (p.Gln6Ter) c.2229C>T (n.2229C>T) c.2661C>T c.2166C>T (n.2166C>T) c.2618C>T n.821C>T c.2572C>T (p.Gln858Ter) c.4420C>T (p.Gln1474Ter) n.632C>T n.2756C>T n.2291C>T c.397C>T (p.Gln133Ter) n.2141C>T c.4327C>T (p.Gln1443Ter) n.4708C>T | dbSNP |
19 | g.11041454_11041457delinsCAGA | CA2322735054 | SMARCA4 | c.4414_4417delinsCAGA (p.Gln1472=) c.4318_4321delinsCAGA (p.Gln1440=) c.4219_4222delinsCAGA (p.Gln1407=) c.485_488delinsCAGA c.445_448delinsCAGA (p.Gln149=) c.259_262delinsCAGA (p.Gln87=) n.2559_2562delinsCAGA c.2812_2815delinsCAGA (p.Gln938=) c.1775_1778delinsCAGA c.4315_4318delinsCAGA (p.Gln1439=) c.2875_2878delinsCAGA (p.Gln959=) c.4228_4231delinsCAGA (p.Gln1410=) c.2603_2606delinsCAGA c.4324_4327delinsCAGA (p.Gln1442=) c.2682_2685delinsCAGA n.811_814delinsCAGA c.3741_3744delinsCAGA c.2955_2958delinsCAGA c.2990_2993delinsCAGA c.2972_2975delinsCAGA c.2806_2809delinsCAGA (p.Gln936=) c.867_870delinsCAGA c.16_19delinsCAGA (p.Gln6=) c.2229_2232delinsCAGA (n.2229_2232delinsCAGA) c.2661_2664delinsCAGA c.2166_2169delinsCAGA (n.2166_2169delinsCAGA) c.2618_2621delinsCAGA n.821_824delinsCAGA c.2572_2575delinsCAGA (p.Gln858=) c.4420_4423delinsCAGA (p.Gln1474=) n.632_635delinsCAGA n.2756_2759delinsCAGA n.2291_2294delinsCAGA c.397_400delinsCAGA (p.Gln133=) n.2141_2144delinsCAGA c.4327_4330delinsCAGA (p.Gln1443=) n.4708_4711delinsCAGA | |
19 | g.11041455A>C | CA404073824 | SMARCA4 | c.4415A>C (p.Gln1472Pro) c.4319A>C (p.Gln1440Pro) c.4220A>C (p.Gln1407Pro) c.486A>C c.446A>C (p.Gln149Pro) c.260A>C (p.Gln87Pro) n.2560A>C c.2813A>C (p.Gln938Pro) c.1776A>C c.4316A>C (p.Gln1439Pro) c.2876A>C (p.Gln959Pro) c.4229A>C (p.Gln1410Pro) c.2604A>C c.4325A>C (p.Gln1442Pro) c.2683A>C n.812A>C c.3742A>C c.2956A>C c.2991A>C c.2973A>C c.2807A>C (p.Gln936Pro) c.868A>C c.17A>C (p.Gln6Pro) c.2230A>C (n.2230A>C) c.2662A>C c.2167A>C (n.2167A>C) c.2619A>C n.822A>C c.2573A>C (p.Gln858Pro) c.4421A>C (p.Gln1474Pro) n.633A>C n.2757A>C n.2292A>C c.398A>C (p.Gln133Pro) n.2142A>C c.4328A>C (p.Gln1443Pro) n.4709A>C | |
19 | g.11041455A>G | CA404073825 | SMARCA4 | c.4415A>G (p.Gln1472Arg) c.4319A>G (p.Gln1440Arg) c.4220A>G (p.Gln1407Arg) c.486A>G c.446A>G (p.Gln149Arg) c.260A>G (p.Gln87Arg) n.2560A>G c.2813A>G (p.Gln938Arg) c.1776A>G c.4316A>G (p.Gln1439Arg) c.2876A>G (p.Gln959Arg) c.4229A>G (p.Gln1410Arg) c.2604A>G c.4325A>G (p.Gln1442Arg) c.2683A>G n.812A>G c.3742A>G c.2956A>G c.2991A>G c.2973A>G c.2807A>G (p.Gln936Arg) c.868A>G c.17A>G (p.Gln6Arg) c.2230A>G (n.2230A>G) c.2662A>G c.2167A>G (n.2167A>G) c.2619A>G n.822A>G c.2573A>G (p.Gln858Arg) c.4421A>G (p.Gln1474Arg) n.633A>G n.2757A>G n.2292A>G c.398A>G (p.Gln133Arg) n.2142A>G c.4328A>G (p.Gln1443Arg) n.4709A>G | dbSNP gnomAD v4 |
19 | g.11041455A>T | CA404073826 | SMARCA4 | c.4415A>T (p.Gln1472Leu) c.4319A>T (p.Gln1440Leu) c.4220A>T (p.Gln1407Leu) c.486A>T c.446A>T (p.Gln149Leu) c.260A>T (p.Gln87Leu) n.2560A>T c.2813A>T (p.Gln938Leu) c.1776A>T c.4316A>T (p.Gln1439Leu) c.2876A>T (p.Gln959Leu) c.4229A>T (p.Gln1410Leu) c.2604A>T c.4325A>T (p.Gln1442Leu) c.2683A>T n.812A>T c.3742A>T c.2956A>T c.2991A>T c.2973A>T c.2807A>T (p.Gln936Leu) c.868A>T c.17A>T (p.Gln6Leu) c.2230A>T (n.2230A>T) c.2662A>T c.2167A>T (n.2167A>T) c.2619A>T n.822A>T c.2573A>T (p.Gln858Leu) c.4421A>T (p.Gln1474Leu) n.633A>T n.2757A>T n.2292A>T c.398A>T (p.Gln133Leu) n.2142A>T c.4328A>T (p.Gln1443Leu) n.4709A>T | dbSNP |
19 | g.11041460_11041462del | CA632115274 | SMARCA4 | c.4420_4422del (p.Lys1474del) c.4324_4326del (p.Lys1442del) c.4225_4227del (p.Lys1409del) c.491_493del c.451_453del (p.Lys151del) c.265_267del (p.Lys89del) n.2565_2567del c.2818_2820del (p.Lys940del) c.1781_1783del c.4321_4323del (p.Lys1441del) c.2881_2883del (p.Lys961del) c.4234_4236del (p.Lys1412del) c.2609_2611del c.4330_4332del (p.Lys1444del) c.2688_2690del n.817_819del c.3747_3749del c.2961_2963del c.2996_2998del c.2978_2980del c.2812_2814del (p.Lys938del) c.873_875del c.22_24del (p.Lys8del) c.2235_2237del (n.2235_2237del) c.2667_2669del c.2172_2174del (n.2172_2174del) c.2624_2626del n.827_829del c.2578_2580del (p.Lys860del) c.4426_4428del (p.Lys1476del) n.638_640del n.2762_2764del n.2297_2299del c.403_405del (p.Lys135del) n.2147_2149del c.4333_4335del (p.Lys1445del) n.4714_4716del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
19 | g.11041456G>A | CA505743890 | SMARCA4 | c.4416G>A (p.Gln1472=) c.4320G>A (p.Gln1440=) c.4221G>A (p.Gln1407=) c.487G>A c.447G>A (p.Gln149=) c.261G>A (p.Gln87=) n.2561G>A c.2814G>A (p.Gln938=) c.1777G>A c.4317G>A (p.Gln1439=) c.2877G>A (p.Gln959=) c.4230G>A (p.Gln1410=) c.2605G>A c.4326G>A (p.Gln1442=) c.2684G>A n.813G>A c.3743G>A c.2957G>A c.2992G>A c.2974G>A c.2808G>A (p.Gln936=) c.869G>A c.18G>A (p.Gln6=) c.2231G>A (n.2231G>A) c.2663G>A c.2168G>A (n.2168G>A) c.2620G>A n.823G>A c.2574G>A (p.Gln858=) c.4422G>A (p.Gln1474=) n.634G>A n.2758G>A n.2293G>A c.399G>A (p.Gln133=) n.2143G>A c.4329G>A (p.Gln1443=) n.4710G>A | ClinVar dbSNP |
19 | g.11041456G>C | CA404073829 | SMARCA4 | c.4416G>C (p.Gln1472His) c.4320G>C (p.Gln1440His) c.4221G>C (p.Gln1407His) c.487G>C c.447G>C (p.Gln149His) c.261G>C (p.Gln87His) n.2561G>C c.2814G>C (p.Gln938His) c.1777G>C c.4317G>C (p.Gln1439His) c.2877G>C (p.Gln959His) c.4230G>C (p.Gln1410His) c.2605G>C c.4326G>C (p.Gln1442His) c.2684G>C n.813G>C c.3743G>C c.2957G>C c.2992G>C c.2974G>C c.2808G>C (p.Gln936His) c.869G>C c.18G>C (p.Gln6His) c.2231G>C (n.2231G>C) c.2663G>C c.2168G>C (n.2168G>C) c.2620G>C n.823G>C c.2574G>C (p.Gln858His) c.4422G>C (p.Gln1474His) n.634G>C n.2758G>C n.2293G>C c.399G>C (p.Gln133His) n.2143G>C c.4329G>C (p.Gln1443His) n.4710G>C | |
19 | g.11041456G= | CA2322735056 | SMARCA4 | c.4416G= (p.Gln1472=) c.4320G= (p.Gln1440=) c.4221G= (p.Gln1407=) c.487G= c.447G= (p.Gln149=) c.261G= (p.Gln87=) n.2561G= c.2814G= (p.Gln938=) c.1777G= c.4317G= (p.Gln1439=) c.2877G= (p.Gln959=) c.4230G= (p.Gln1410=) c.2605G= c.4326G= (p.Gln1442=) c.2684G= n.813G= c.3743G= c.2957G= c.2992G= c.2974G= c.2808G= (p.Gln936=) c.869G= c.18G= (p.Gln6=) c.2231G= (n.2231G=) c.2663G= c.2168G= (n.2168G=) c.2620G= n.823G= c.2574G= (p.Gln858=) c.4422G= (p.Gln1474=) n.634G= n.2758G= n.2293G= c.399G= (p.Gln133=) n.2143G= c.4329G= (p.Gln1443=) n.4710G= | |
19 | g.11041456G>T | CA404073830 | SMARCA4 | c.4416G>T (p.Gln1472His) c.4320G>T (p.Gln1440His) c.4221G>T (p.Gln1407His) c.487G>T c.447G>T (p.Gln149His) c.261G>T (p.Gln87His) n.2561G>T c.2814G>T (p.Gln938His) c.1777G>T c.4317G>T (p.Gln1439His) c.2877G>T (p.Gln959His) c.4230G>T (p.Gln1410His) c.2605G>T c.4326G>T (p.Gln1442His) c.2684G>T n.813G>T c.3743G>T c.2957G>T c.2992G>T c.2974G>T c.2808G>T (p.Gln936His) c.869G>T c.18G>T (p.Gln6His) c.2231G>T (n.2231G>T) c.2663G>T c.2168G>T (n.2168G>T) c.2620G>T n.823G>T c.2574G>T (p.Gln858His) c.4422G>T (p.Gln1474His) n.634G>T n.2758G>T n.2293G>T c.399G>T (p.Gln133His) n.2143G>T c.4329G>T (p.Gln1443His) n.4710G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.11041457A>C | CA404073833 | SMARCA4 | c.4417A>C (p.Lys1473Gln) c.4321A>C (p.Lys1441Gln) c.4222A>C (p.Lys1408Gln) c.488A>C c.448A>C (p.Lys150Gln) c.262A>C (p.Lys88Gln) n.2562A>C c.2815A>C (p.Lys939Gln) c.1778A>C c.4318A>C (p.Lys1440Gln) c.2878A>C (p.Lys960Gln) c.4231A>C (p.Lys1411Gln) c.2606A>C c.4327A>C (p.Lys1443Gln) c.2685A>C n.814A>C c.3744A>C c.2958A>C c.2993A>C c.2975A>C c.2809A>C (p.Lys937Gln) c.870A>C c.19A>C (p.Lys7Gln) c.2232A>C (n.2232A>C) c.2664A>C c.2169A>C (n.2169A>C) c.2621A>C n.824A>C c.2575A>C (p.Lys859Gln) c.4423A>C (p.Lys1475Gln) n.635A>C n.2759A>C n.2294A>C c.400A>C (p.Lys134Gln) n.2144A>C c.4330A>C (p.Lys1444Gln) n.4711A>C | |
19 | g.11041457A>G | CA404073835 | SMARCA4 | c.4417A>G (p.Lys1473Glu) c.4321A>G (p.Lys1441Glu) c.4222A>G (p.Lys1408Glu) c.488A>G c.448A>G (p.Lys150Glu) c.262A>G (p.Lys88Glu) n.2562A>G c.2815A>G (p.Lys939Glu) c.1778A>G c.4318A>G (p.Lys1440Glu) c.2878A>G (p.Lys960Glu) c.4231A>G (p.Lys1411Glu) c.2606A>G c.4327A>G (p.Lys1443Glu) c.2685A>G n.814A>G c.3744A>G c.2958A>G c.2993A>G c.2975A>G c.2809A>G (p.Lys937Glu) c.870A>G c.19A>G (p.Lys7Glu) c.2232A>G (n.2232A>G) c.2664A>G c.2169A>G (n.2169A>G) c.2621A>G n.824A>G c.2575A>G (p.Lys859Glu) c.4423A>G (p.Lys1475Glu) n.635A>G n.2759A>G n.2294A>G c.400A>G (p.Lys134Glu) n.2144A>G c.4330A>G (p.Lys1444Glu) n.4711A>G | |
19 | g.11041457A>T | CA404073837 | SMARCA4 | c.4417A>T (p.Lys1473Ter) c.4321A>T (p.Lys1441Ter) c.4222A>T (p.Lys1408Ter) c.488A>T c.448A>T (p.Lys150Ter) c.262A>T (p.Lys88Ter) n.2562A>T c.2815A>T (p.Lys939Ter) c.1778A>T c.4318A>T (p.Lys1440Ter) c.2878A>T (p.Lys960Ter) c.4231A>T (p.Lys1411Ter) c.2606A>T c.4327A>T (p.Lys1443Ter) c.2685A>T n.814A>T c.3744A>T c.2958A>T c.2993A>T c.2975A>T c.2809A>T (p.Lys937Ter) c.870A>T c.19A>T (p.Lys7Ter) c.2232A>T (n.2232A>T) c.2664A>T c.2169A>T (n.2169A>T) c.2621A>T n.824A>T c.2575A>T (p.Lys859Ter) c.4423A>T (p.Lys1475Ter) n.635A>T n.2759A>T n.2294A>T c.400A>T (p.Lys134Ter) n.2144A>T c.4330A>T (p.Lys1444Ter) n.4711A>T | dbSNP |
19 | g.11041458A= | CA2322735058 | SMARCA4 | c.4418A= (p.Lys1473=) c.4322A= (p.Lys1441=) c.4223A= (p.Lys1408=) c.489A= c.449A= (p.Lys150=) c.263A= (p.Lys88=) n.2563A= c.2816A= (p.Lys939=) c.1779A= c.4319A= (p.Lys1440=) c.2879A= (p.Lys960=) c.4232A= (p.Lys1411=) c.2607A= c.4328A= (p.Lys1443=) c.2686A= n.815A= c.3745A= c.2959A= c.2994A= c.2976A= c.2810A= (p.Lys937=) c.871A= c.20A= (p.Lys7=) c.2233A= (n.2233A=) c.2665A= c.2170A= (n.2170A=) c.2622A= n.825A= c.2576A= (p.Lys859=) c.4424A= (p.Lys1475=) n.636A= n.2760A= n.2295A= c.401A= (p.Lys134=) n.2145A= c.4331A= (p.Lys1444=) n.4712A= | |
19 | g.11041458A>C | CA404073839 | SMARCA4 | c.4418A>C (p.Lys1473Thr) c.4322A>C (p.Lys1441Thr) c.4223A>C (p.Lys1408Thr) c.489A>C c.449A>C (p.Lys150Thr) c.263A>C (p.Lys88Thr) n.2563A>C c.2816A>C (p.Lys939Thr) c.1779A>C c.4319A>C (p.Lys1440Thr) c.2879A>C (p.Lys960Thr) c.4232A>C (p.Lys1411Thr) c.2607A>C c.4328A>C (p.Lys1443Thr) c.2686A>C n.815A>C c.3745A>C c.2959A>C c.2994A>C c.2976A>C c.2810A>C (p.Lys937Thr) c.871A>C c.20A>C (p.Lys7Thr) c.2233A>C (n.2233A>C) c.2665A>C c.2170A>C (n.2170A>C) c.2622A>C n.825A>C c.2576A>C (p.Lys859Thr) c.4424A>C (p.Lys1475Thr) n.636A>C n.2760A>C n.2295A>C c.401A>C (p.Lys134Thr) n.2145A>C c.4331A>C (p.Lys1444Thr) n.4712A>C | |
19 | g.11041458A>G | CA404073841 | SMARCA4 | c.4418A>G (p.Lys1473Arg) c.4322A>G (p.Lys1441Arg) c.4223A>G (p.Lys1408Arg) c.489A>G c.449A>G (p.Lys150Arg) c.263A>G (p.Lys88Arg) n.2563A>G c.2816A>G (p.Lys939Arg) c.1779A>G c.4319A>G (p.Lys1440Arg) c.2879A>G (p.Lys960Arg) c.4232A>G (p.Lys1411Arg) c.2607A>G c.4328A>G (p.Lys1443Arg) c.2686A>G n.815A>G c.3745A>G c.2959A>G c.2994A>G c.2976A>G c.2810A>G (p.Lys937Arg) c.871A>G c.20A>G (p.Lys7Arg) c.2233A>G (n.2233A>G) c.2665A>G c.2170A>G (n.2170A>G) c.2622A>G n.825A>G c.2576A>G (p.Lys859Arg) c.4424A>G (p.Lys1475Arg) n.636A>G n.2760A>G n.2295A>G c.401A>G (p.Lys134Arg) n.2145A>G c.4331A>G (p.Lys1444Arg) n.4712A>G | ClinVar dbSNP gnomAD v4 |
19 | g.11041458A>T | CA404073843 | SMARCA4 | c.4418A>T (p.Lys1473Met) c.4322A>T (p.Lys1441Met) c.4223A>T (p.Lys1408Met) c.489A>T c.449A>T (p.Lys150Met) c.263A>T (p.Lys88Met) n.2563A>T c.2816A>T (p.Lys939Met) c.1779A>T c.4319A>T (p.Lys1440Met) c.2879A>T (p.Lys960Met) c.4232A>T (p.Lys1411Met) c.2607A>T c.4328A>T (p.Lys1443Met) c.2686A>T n.815A>T c.3745A>T c.2959A>T c.2994A>T c.2976A>T c.2810A>T (p.Lys937Met) c.871A>T c.20A>T (p.Lys7Met) c.2233A>T (n.2233A>T) c.2665A>T c.2170A>T (n.2170A>T) c.2622A>T n.825A>T c.2576A>T (p.Lys859Met) c.4424A>T (p.Lys1475Met) n.636A>T n.2760A>T n.2295A>T c.401A>T (p.Lys134Met) n.2145A>T c.4331A>T (p.Lys1444Met) n.4712A>T | dbSNP |
19 | g.11041459G>A | CA505743892 | SMARCA4 | c.4419G>A (p.Lys1473=) c.4323G>A (p.Lys1441=) c.4224G>A (p.Lys1408=) c.490G>A c.450G>A (p.Lys150=) c.264G>A (p.Lys88=) n.2564G>A c.2817G>A (p.Lys939=) c.1780G>A c.4320G>A (p.Lys1440=) c.2880G>A (p.Lys960=) c.4233G>A (p.Lys1411=) c.2608G>A c.4329G>A (p.Lys1443=) c.2687G>A n.816G>A c.3746G>A c.2960G>A c.2995G>A c.2977G>A c.2811G>A (p.Lys937=) c.872G>A c.21G>A (p.Lys7=) c.2234G>A (n.2234G>A) c.2666G>A c.2171G>A (n.2171G>A) c.2623G>A n.826G>A c.2577G>A (p.Lys859=) c.4425G>A (p.Lys1475=) n.637G>A n.2761G>A n.2296G>A c.402G>A (p.Lys134=) n.2146G>A c.4332G>A (p.Lys1444=) n.4713G>A | dbSNP |
19 | g.11041459G>C | CA404073845 | SMARCA4 | c.4419G>C (p.Lys1473Asn) c.4323G>C (p.Lys1441Asn) c.4224G>C (p.Lys1408Asn) c.490G>C c.450G>C (p.Lys150Asn) c.264G>C (p.Lys88Asn) n.2564G>C c.2817G>C (p.Lys939Asn) c.1780G>C c.4320G>C (p.Lys1440Asn) c.2880G>C (p.Lys960Asn) c.4233G>C (p.Lys1411Asn) c.2608G>C c.4329G>C (p.Lys1443Asn) c.2687G>C n.816G>C c.3746G>C c.2960G>C c.2995G>C c.2977G>C c.2811G>C (p.Lys937Asn) c.872G>C c.21G>C (p.Lys7Asn) c.2234G>C (n.2234G>C) c.2666G>C c.2171G>C (n.2171G>C) c.2623G>C n.826G>C c.2577G>C (p.Lys859Asn) c.4425G>C (p.Lys1475Asn) n.637G>C n.2761G>C n.2296G>C c.402G>C (p.Lys134Asn) n.2146G>C c.4332G>C (p.Lys1444Asn) n.4713G>C | dbSNP |
19 | g.11041459G>T | CA404073846 | SMARCA4 | c.4419G>T (p.Lys1473Asn) c.4323G>T (p.Lys1441Asn) c.4224G>T (p.Lys1408Asn) c.490G>T c.450G>T (p.Lys150Asn) c.264G>T (p.Lys88Asn) n.2564G>T c.2817G>T (p.Lys939Asn) c.1780G>T c.4320G>T (p.Lys1440Asn) c.2880G>T (p.Lys960Asn) c.4233G>T (p.Lys1411Asn) c.2608G>T c.4329G>T (p.Lys1443Asn) c.2687G>T n.816G>T c.3746G>T c.2960G>T c.2995G>T c.2977G>T c.2811G>T (p.Lys937Asn) c.872G>T c.21G>T (p.Lys7Asn) c.2234G>T (n.2234G>T) c.2666G>T c.2171G>T (n.2171G>T) c.2623G>T n.826G>T c.2577G>T (p.Lys859Asn) c.4425G>T (p.Lys1475Asn) n.637G>T n.2761G>T n.2296G>T c.402G>T (p.Lys134Asn) n.2146G>T c.4332G>T (p.Lys1444Asn) n.4713G>T | |
19 | g.11041460A= | CA2322735059 | SMARCA4 | c.4420A= (p.Lys1474=) c.4324A= (p.Lys1442=) c.4225A= (p.Lys1409=) c.491A= c.451A= (p.Lys151=) c.265A= (p.Lys89=) n.2565A= c.2818A= (p.Lys940=) c.1781A= c.4321A= (p.Lys1441=) c.2881A= (p.Lys961=) c.4234A= (p.Lys1412=) c.2609A= c.4330A= (p.Lys1444=) c.2688A= n.817A= c.3747A= c.2961A= c.2996A= c.2978A= c.2812A= (p.Lys938=) c.873A= c.22A= (p.Lys8=) c.2235A= (n.2235A=) c.2667A= c.2172A= (n.2172A=) c.2624A= n.827A= c.2578A= (p.Lys860=) c.4426A= (p.Lys1476=) n.638A= n.2762A= n.2297A= c.403A= (p.Lys135=) n.2147A= c.4333A= (p.Lys1445=) n.4714A= | |
19 | g.11041460A>C | CA9204702 | SMARCA4 | c.4420A>C (p.Lys1474Gln) c.4324A>C (p.Lys1442Gln) c.4225A>C (p.Lys1409Gln) c.491A>C c.451A>C (p.Lys151Gln) c.265A>C (p.Lys89Gln) n.2565A>C c.2818A>C (p.Lys940Gln) c.1781A>C c.4321A>C (p.Lys1441Gln) c.2881A>C (p.Lys961Gln) c.4234A>C (p.Lys1412Gln) c.2609A>C c.4330A>C (p.Lys1444Gln) c.2688A>C n.817A>C c.3747A>C c.2961A>C c.2996A>C c.2978A>C c.2812A>C (p.Lys938Gln) c.873A>C c.22A>C (p.Lys8Gln) c.2235A>C (n.2235A>C) c.2667A>C c.2172A>C (n.2172A>C) c.2624A>C n.827A>C c.2578A>C (p.Lys860Gln) c.4426A>C (p.Lys1476Gln) n.638A>C n.2762A>C n.2297A>C c.403A>C (p.Lys135Gln) n.2147A>C c.4333A>C (p.Lys1445Gln) n.4714A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11041460A>G | CA404073847 | SMARCA4 | c.4420A>G (p.Lys1474Glu) c.4324A>G (p.Lys1442Glu) c.4225A>G (p.Lys1409Glu) c.491A>G c.451A>G (p.Lys151Glu) c.265A>G (p.Lys89Glu) n.2565A>G c.2818A>G (p.Lys940Glu) c.1781A>G c.4321A>G (p.Lys1441Glu) c.2881A>G (p.Lys961Glu) c.4234A>G (p.Lys1412Glu) c.2609A>G c.4330A>G (p.Lys1444Glu) c.2688A>G n.817A>G c.3747A>G c.2961A>G c.2996A>G c.2978A>G c.2812A>G (p.Lys938Glu) c.873A>G c.22A>G (p.Lys8Glu) c.2235A>G (n.2235A>G) c.2667A>G c.2172A>G (n.2172A>G) c.2624A>G n.827A>G c.2578A>G (p.Lys860Glu) c.4426A>G (p.Lys1476Glu) n.638A>G n.2762A>G n.2297A>G c.403A>G (p.Lys135Glu) n.2147A>G c.4333A>G (p.Lys1445Glu) n.4714A>G | |
19 | g.11041460A>T | CA404073848 | SMARCA4 | c.4420A>T (p.Lys1474Ter) c.4324A>T (p.Lys1442Ter) c.4225A>T (p.Lys1409Ter) c.491A>T c.451A>T (p.Lys151Ter) c.265A>T (p.Lys89Ter) n.2565A>T c.2818A>T (p.Lys940Ter) c.1781A>T c.4321A>T (p.Lys1441Ter) c.2881A>T (p.Lys961Ter) c.4234A>T (p.Lys1412Ter) c.2609A>T c.4330A>T (p.Lys1444Ter) c.2688A>T n.817A>T c.3747A>T c.2961A>T c.2996A>T c.2978A>T c.2812A>T (p.Lys938Ter) c.873A>T c.22A>T (p.Lys8Ter) c.2235A>T (n.2235A>T) c.2667A>T c.2172A>T (n.2172A>T) c.2624A>T n.827A>T c.2578A>T (p.Lys860Ter) c.4426A>T (p.Lys1476Ter) n.638A>T n.2762A>T n.2297A>T c.403A>T (p.Lys135Ter) n.2147A>T c.4333A>T (p.Lys1445Ter) n.4714A>T | |
19 | g.11041461A>C | CA404073850 | SMARCA4 | c.4421A>C (p.Lys1474Thr) c.4325A>C (p.Lys1442Thr) c.4226A>C (p.Lys1409Thr) c.492A>C c.452A>C (p.Lys151Thr) c.266A>C (p.Lys89Thr) n.2566A>C c.2819A>C (p.Lys940Thr) c.1782A>C c.4322A>C (p.Lys1441Thr) c.2882A>C (p.Lys961Thr) c.4235A>C (p.Lys1412Thr) c.2610A>C c.4331A>C (p.Lys1444Thr) c.2689A>C n.818A>C c.3748A>C c.2962A>C c.2997A>C c.2979A>C c.2813A>C (p.Lys938Thr) c.874A>C c.23A>C (p.Lys8Thr) c.2236A>C (n.2236A>C) c.2668A>C c.2173A>C (n.2173A>C) c.2625A>C n.828A>C c.2579A>C (p.Lys860Thr) c.4427A>C (p.Lys1476Thr) n.639A>C n.2763A>C n.2298A>C c.404A>C (p.Lys135Thr) n.2148A>C c.4334A>C (p.Lys1445Thr) n.4715A>C | ClinVar dbSNP |
19 | g.11041461A>G | CA404073852 | SMARCA4 | c.4421A>G (p.Lys1474Arg) c.4325A>G (p.Lys1442Arg) c.4226A>G (p.Lys1409Arg) c.492A>G c.452A>G (p.Lys151Arg) c.266A>G (p.Lys89Arg) n.2566A>G c.2819A>G (p.Lys940Arg) c.1782A>G c.4322A>G (p.Lys1441Arg) c.2882A>G (p.Lys961Arg) c.4235A>G (p.Lys1412Arg) c.2610A>G c.4331A>G (p.Lys1444Arg) c.2689A>G n.818A>G c.3748A>G c.2962A>G c.2997A>G c.2979A>G c.2813A>G (p.Lys938Arg) c.874A>G c.23A>G (p.Lys8Arg) c.2236A>G (n.2236A>G) c.2668A>G c.2173A>G (n.2173A>G) c.2625A>G n.828A>G c.2579A>G (p.Lys860Arg) c.4427A>G (p.Lys1476Arg) n.639A>G n.2763A>G n.2298A>G c.404A>G (p.Lys135Arg) n.2148A>G c.4334A>G (p.Lys1445Arg) n.4715A>G | dbSNP |
19 | g.11041461A>T | CA404073855 | SMARCA4 | c.4421A>T (p.Lys1474Met) c.4325A>T (p.Lys1442Met) c.4226A>T (p.Lys1409Met) c.492A>T c.452A>T (p.Lys151Met) c.266A>T (p.Lys89Met) n.2566A>T c.2819A>T (p.Lys940Met) c.1782A>T c.4322A>T (p.Lys1441Met) c.2882A>T (p.Lys961Met) c.4235A>T (p.Lys1412Met) c.2610A>T c.4331A>T (p.Lys1444Met) c.2689A>T n.818A>T c.3748A>T c.2962A>T c.2997A>T c.2979A>T c.2813A>T (p.Lys938Met) c.874A>T c.23A>T (p.Lys8Met) c.2236A>T (n.2236A>T) c.2668A>T c.2173A>T (n.2173A>T) c.2625A>T n.828A>T c.2579A>T (p.Lys860Met) c.4427A>T (p.Lys1476Met) n.639A>T n.2763A>T n.2298A>T c.404A>T (p.Lys135Met) n.2148A>T c.4334A>T (p.Lys1445Met) n.4715A>T | dbSNP |
19 | g.11041462G>A | CA505743893 | SMARCA4 | c.4422G>A (p.Lys1474=) c.4326G>A (p.Lys1442=) c.4227G>A (p.Lys1409=) c.493G>A c.453G>A (p.Lys151=) c.267G>A (p.Lys89=) n.2567G>A c.2820G>A (p.Lys940=) c.1783G>A c.4323G>A (p.Lys1441=) c.2883G>A (p.Lys961=) c.4236G>A (p.Lys1412=) c.2611G>A c.4332G>A (p.Lys1444=) c.2690G>A n.819G>A c.3749G>A c.2963G>A c.2998G>A c.2980G>A c.2814G>A (p.Lys938=) c.875G>A c.24G>A (p.Lys8=) c.2237G>A (n.2237G>A) c.2669G>A c.2174G>A (n.2174G>A) c.2626G>A n.829G>A c.2580G>A (p.Lys860=) c.4428G>A (p.Lys1476=) n.640G>A n.2764G>A n.2299G>A c.405G>A (p.Lys135=) n.2149G>A c.4335G>A (p.Lys1445=) n.4716G>A | |
19 | g.11041462G>C | CA404073864 | SMARCA4 | c.4422G>C (p.Lys1474Asn) c.4326G>C (p.Lys1442Asn) c.4227G>C (p.Lys1409Asn) c.493G>C c.453G>C (p.Lys151Asn) c.267G>C (p.Lys89Asn) n.2567G>C c.2820G>C (p.Lys940Asn) c.1783G>C c.4323G>C (p.Lys1441Asn) c.2883G>C (p.Lys961Asn) c.4236G>C (p.Lys1412Asn) c.2611G>C c.4332G>C (p.Lys1444Asn) c.2690G>C n.819G>C c.3749G>C c.2963G>C c.2998G>C c.2980G>C c.2814G>C (p.Lys938Asn) c.875G>C c.24G>C (p.Lys8Asn) c.2237G>C (n.2237G>C) c.2669G>C c.2174G>C (n.2174G>C) c.2626G>C n.829G>C c.2580G>C (p.Lys860Asn) c.4428G>C (p.Lys1476Asn) n.640G>C n.2764G>C n.2299G>C c.405G>C (p.Lys135Asn) n.2149G>C c.4335G>C (p.Lys1445Asn) n.4716G>C | dbSNP |
19 | g.11041462G>T | CA404073865 | SMARCA4 | c.4422G>T (p.Lys1474Asn) c.4326G>T (p.Lys1442Asn) c.4227G>T (p.Lys1409Asn) c.493G>T c.453G>T (p.Lys151Asn) c.267G>T (p.Lys89Asn) n.2567G>T c.2820G>T (p.Lys940Asn) c.1783G>T c.4323G>T (p.Lys1441Asn) c.2883G>T (p.Lys961Asn) c.4236G>T (p.Lys1412Asn) c.2611G>T c.4332G>T (p.Lys1444Asn) c.2690G>T n.819G>T c.3749G>T c.2963G>T c.2998G>T c.2980G>T c.2814G>T (p.Lys938Asn) c.875G>T c.24G>T (p.Lys8Asn) c.2237G>T (n.2237G>T) c.2669G>T c.2174G>T (n.2174G>T) c.2626G>T n.829G>T c.2580G>T (p.Lys860Asn) c.4428G>T (p.Lys1476Asn) n.640G>T n.2764G>T n.2299G>T c.405G>T (p.Lys135Asn) n.2149G>T c.4335G>T (p.Lys1445Asn) n.4716G>T | |
19 | g.11041463C>A | CA404073867 | SMARCA4 | c.4423C>A (p.Arg1475Ser) c.4327C>A (p.Arg1443Ser) c.4228C>A (p.Arg1410Ser) c.494C>A c.454C>A (p.Arg152Ser) c.268C>A (p.Arg90Ser) n.2568C>A c.2821C>A (p.Arg941Ser) c.1784C>A c.4324C>A (p.Arg1442Ser) c.2884C>A (p.Arg962Ser) c.4237C>A (p.Arg1413Ser) c.2612C>A c.4333C>A (p.Arg1445Ser) c.2691C>A n.820C>A c.3750C>A c.2964C>A c.2999C>A c.2981C>A c.2815C>A (p.Arg939Ser) c.876C>A c.25C>A (p.Arg9Ser) c.2238C>A (n.2238C>A) c.2670C>A c.2175C>A (n.2175C>A) c.2627C>A n.830C>A c.2581C>A (p.Arg861Ser) c.4429C>A (p.Arg1477Ser) n.641C>A n.2765C>A n.2300C>A c.406C>A (p.Arg136Ser) n.2150C>A c.4336C>A (p.Arg1446Ser) n.4717C>A | dbSNP |
19 | g.11041463C= | CA2322735061 | SMARCA4 | c.4423C= (p.Arg1475=) c.4327C= (p.Arg1443=) c.4228C= (p.Arg1410=) c.494C= c.454C= (p.Arg152=) c.268C= (p.Arg90=) n.2568C= c.2821C= (p.Arg941=) c.1784C= c.4324C= (p.Arg1442=) c.2884C= (p.Arg962=) c.4237C= (p.Arg1413=) c.2612C= c.4333C= (p.Arg1445=) c.2691C= n.820C= c.3750C= c.2964C= c.2999C= c.2981C= c.2815C= (p.Arg939=) c.876C= c.25C= (p.Arg9=) c.2238C= (n.2238C=) c.2670C= c.2175C= (n.2175C=) c.2627C= n.830C= c.2581C= (p.Arg861=) c.4429C= (p.Arg1477=) n.641C= n.2765C= n.2300C= c.406C= (p.Arg136=) n.2150C= c.4336C= (p.Arg1446=) n.4717C= | |
19 | g.11041463C>G | CA404073869 | SMARCA4 | c.4423C>G (p.Arg1475Gly) c.4327C>G (p.Arg1443Gly) c.4228C>G (p.Arg1410Gly) c.494C>G c.454C>G (p.Arg152Gly) c.268C>G (p.Arg90Gly) n.2568C>G c.2821C>G (p.Arg941Gly) c.1784C>G c.4324C>G (p.Arg1442Gly) c.2884C>G (p.Arg962Gly) c.4237C>G (p.Arg1413Gly) c.2612C>G c.4333C>G (p.Arg1445Gly) c.2691C>G n.820C>G c.3750C>G c.2964C>G c.2999C>G c.2981C>G c.2815C>G (p.Arg939Gly) c.876C>G c.25C>G (p.Arg9Gly) c.2238C>G (n.2238C>G) c.2670C>G c.2175C>G (n.2175C>G) c.2627C>G n.830C>G c.2581C>G (p.Arg861Gly) c.4429C>G (p.Arg1477Gly) n.641C>G n.2765C>G n.2300C>G c.406C>G (p.Arg136Gly) n.2150C>G c.4336C>G (p.Arg1446Gly) n.4717C>G | dbSNP |
19 | g.11041463C>T | CA404073871 | SMARCA4 | c.4423C>T (p.Arg1475Cys) c.4327C>T (p.Arg1443Cys) c.4228C>T (p.Arg1410Cys) c.494C>T c.454C>T (p.Arg152Cys) c.268C>T (p.Arg90Cys) n.2568C>T c.2821C>T (p.Arg941Cys) c.1784C>T c.4324C>T (p.Arg1442Cys) c.2884C>T (p.Arg962Cys) c.4237C>T (p.Arg1413Cys) c.2612C>T c.4333C>T (p.Arg1445Cys) c.2691C>T n.820C>T c.3750C>T c.2964C>T c.2999C>T c.2981C>T c.2815C>T (p.Arg939Cys) c.876C>T c.25C>T (p.Arg9Cys) c.2238C>T (n.2238C>T) c.2670C>T c.2175C>T (n.2175C>T) c.2627C>T n.830C>T c.2581C>T (p.Arg861Cys) c.4429C>T (p.Arg1477Cys) n.641C>T n.2765C>T n.2300C>T c.406C>T (p.Arg136Cys) n.2150C>T c.4336C>T (p.Arg1446Cys) n.4717C>T | dbSNP gnomAD v4 |
19 | g.11041464G>A | CA404073872 | SMARCA4 | c.4424G>A (p.Arg1475His) c.4328G>A (p.Arg1443His) c.4229G>A (p.Arg1410His) c.495G>A c.455G>A (p.Arg152His) c.269G>A (p.Arg90His) n.2569G>A c.2822G>A (p.Arg941His) c.1785G>A c.4325G>A (p.Arg1442His) c.2885G>A (p.Arg962His) c.4238G>A (p.Arg1413His) c.2613G>A c.4334G>A (p.Arg1445His) c.2692G>A n.821G>A c.3751G>A c.2965G>A c.3000G>A c.2982G>A c.2816G>A (p.Arg939His) c.877G>A c.26G>A (p.Arg9His) c.2239G>A (n.2239G>A) c.2671G>A c.2176G>A (n.2176G>A) c.2628G>A n.831G>A c.2582G>A (p.Arg861His) c.4430G>A (p.Arg1477His) n.642G>A n.2766G>A n.2301G>A c.407G>A (p.Arg136His) n.2151G>A c.4337G>A (p.Arg1446His) n.4718G>A | dbSNP gnomAD v4 COSMIC COSMIC |
19 | g.11041464G>C | CA404073873 | SMARCA4 | c.4424G>C (p.Arg1475Pro) c.4328G>C (p.Arg1443Pro) c.4229G>C (p.Arg1410Pro) c.495G>C c.455G>C (p.Arg152Pro) c.269G>C (p.Arg90Pro) n.2569G>C c.2822G>C (p.Arg941Pro) c.1785G>C c.4325G>C (p.Arg1442Pro) c.2885G>C (p.Arg962Pro) c.4238G>C (p.Arg1413Pro) c.2613G>C c.4334G>C (p.Arg1445Pro) c.2692G>C n.821G>C c.3751G>C c.2965G>C c.3000G>C c.2982G>C c.2816G>C (p.Arg939Pro) c.877G>C c.26G>C (p.Arg9Pro) c.2239G>C (n.2239G>C) c.2671G>C c.2176G>C (n.2176G>C) c.2628G>C n.831G>C c.2582G>C (p.Arg861Pro) c.4430G>C (p.Arg1477Pro) n.642G>C n.2766G>C n.2301G>C c.407G>C (p.Arg136Pro) n.2151G>C c.4337G>C (p.Arg1446Pro) n.4718G>C | dbSNP |
19 | g.11041464G>T | CA404073874 | SMARCA4 | c.4424G>T (p.Arg1475Leu) c.4328G>T (p.Arg1443Leu) c.4229G>T (p.Arg1410Leu) c.495G>T c.455G>T (p.Arg152Leu) c.269G>T (p.Arg90Leu) n.2569G>T c.2822G>T (p.Arg941Leu) c.1785G>T c.4325G>T (p.Arg1442Leu) c.2885G>T (p.Arg962Leu) c.4238G>T (p.Arg1413Leu) c.2613G>T c.4334G>T (p.Arg1445Leu) c.2692G>T n.821G>T c.3751G>T c.2965G>T c.3000G>T c.2982G>T c.2816G>T (p.Arg939Leu) c.877G>T c.26G>T (p.Arg9Leu) c.2239G>T (n.2239G>T) c.2671G>T c.2176G>T (n.2176G>T) c.2628G>T n.831G>T c.2582G>T (p.Arg861Leu) c.4430G>T (p.Arg1477Leu) n.642G>T n.2766G>T n.2301G>T c.407G>T (p.Arg136Leu) n.2151G>T c.4337G>T (p.Arg1446Leu) n.4718G>T | |
19 | g.11041465C>A | CA505743900 | SMARCA4 | c.4425C>A (p.Arg1475=) c.4329C>A (p.Arg1443=) c.4230C>A (p.Arg1410=) c.496C>A c.456C>A (p.Arg152=) c.270C>A (p.Arg90=) n.2570C>A c.2823C>A (p.Arg941=) c.1786C>A c.4326C>A (p.Arg1442=) c.2886C>A (p.Arg962=) c.4239C>A (p.Arg1413=) c.2614C>A c.4335C>A (p.Arg1445=) c.2693C>A n.822C>A c.3752C>A c.2966C>A c.3001C>A c.2983C>A c.2817C>A (p.Arg939=) c.878C>A c.27C>A (p.Arg9=) c.2240C>A (n.2240C>A) c.2672C>A c.2177C>A (n.2177C>A) c.2629C>A n.832C>A c.2583C>A (p.Arg861=) c.4431C>A (p.Arg1477=) n.643C>A n.2767C>A n.2302C>A c.408C>A (p.Arg136=) n.2152C>A c.4338C>A (p.Arg1446=) n.4719C>A | dbSNP |
19 | g.11041465C= | CA2322735062 | SMARCA4 | c.4425C= (p.Arg1475=) c.4329C= (p.Arg1443=) c.4230C= (p.Arg1410=) c.496C= c.456C= (p.Arg152=) c.270C= (p.Arg90=) n.2570C= c.2823C= (p.Arg941=) c.1786C= c.4326C= (p.Arg1442=) c.2886C= (p.Arg962=) c.4239C= (p.Arg1413=) c.2614C= c.4335C= (p.Arg1445=) c.2693C= n.822C= c.3752C= c.2966C= c.3001C= c.2983C= c.2817C= (p.Arg939=) c.878C= c.27C= (p.Arg9=) c.2240C= (n.2240C=) c.2672C= c.2177C= (n.2177C=) c.2629C= n.832C= c.2583C= (p.Arg861=) c.4431C= (p.Arg1477=) n.643C= n.2767C= n.2302C= c.408C= (p.Arg136=) n.2152C= c.4338C= (p.Arg1446=) n.4719C= | |
19 | g.11041465C>G | CA505743897 | SMARCA4 | c.4425C>G (p.Arg1475=) c.4329C>G (p.Arg1443=) c.4230C>G (p.Arg1410=) c.496C>G c.456C>G (p.Arg152=) c.270C>G (p.Arg90=) n.2570C>G c.2823C>G (p.Arg941=) c.1786C>G c.4326C>G (p.Arg1442=) c.2886C>G (p.Arg962=) c.4239C>G (p.Arg1413=) c.2614C>G c.4335C>G (p.Arg1445=) c.2693C>G n.822C>G c.3752C>G c.2966C>G c.3001C>G c.2983C>G c.2817C>G (p.Arg939=) c.878C>G c.27C>G (p.Arg9=) c.2240C>G (n.2240C>G) c.2672C>G c.2177C>G (n.2177C>G) c.2629C>G n.832C>G c.2583C>G (p.Arg861=) c.4431C>G (p.Arg1477=) n.643C>G n.2767C>G n.2302C>G c.408C>G (p.Arg136=) n.2152C>G c.4338C>G (p.Arg1446=) n.4719C>G | dbSNP gnomAD v2 |
19 | g.11041465C>T | CA9204703 | SMARCA4 | c.4425C>T (p.Arg1475=) c.4329C>T (p.Arg1443=) c.4230C>T (p.Arg1410=) c.496C>T c.456C>T (p.Arg152=) c.270C>T (p.Arg90=) n.2570C>T c.2823C>T (p.Arg941=) c.1786C>T c.4326C>T (p.Arg1442=) c.2886C>T (p.Arg962=) c.4239C>T (p.Arg1413=) c.2614C>T c.4335C>T (p.Arg1445=) c.2693C>T n.822C>T c.3752C>T c.2966C>T c.3001C>T c.2983C>T c.2817C>T (p.Arg939=) c.878C>T c.27C>T (p.Arg9=) c.2240C>T (n.2240C>T) c.2672C>T c.2177C>T (n.2177C>T) c.2629C>T n.832C>T c.2583C>T (p.Arg861=) c.4431C>T (p.Arg1477=) n.643C>T n.2767C>T n.2302C>T c.408C>T (p.Arg136=) n.2152C>T c.4338C>T (p.Arg1446=) n.4719C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
19 | g.11041466G>A | CA404073876 | SMARCA4 | c.4426G>A (p.Gly1476Arg) c.4330G>A (p.Gly1444Arg) c.4231G>A (p.Gly1411Arg) c.497G>A c.457G>A (p.Gly153Arg) c.271G>A (p.Gly91Arg) n.2571G>A c.2824G>A (p.Gly942Arg) c.1787G>A c.4327G>A (p.Gly1443Arg) c.2887G>A (p.Gly963Arg) c.4240G>A (p.Gly1414Arg) c.2615G>A c.4336G>A (p.Gly1446Arg) c.2694G>A n.823G>A c.3753G>A c.2967G>A c.3002G>A c.2984G>A c.2818G>A (p.Gly940Arg) c.879G>A c.28G>A (p.Gly10Arg) c.2241G>A (n.2241G>A) c.2673G>A c.2178G>A (n.2178G>A) c.2630G>A n.833G>A c.2584G>A (p.Gly862Arg) c.4432G>A (p.Gly1478Arg) n.644G>A n.2768G>A n.2303G>A c.409G>A n.2153G>A c.4339G>A (p.Gly1447Arg) n.4720G>A | ClinVar dbSNP gnomAD v4 |
19 | g.11041466G>C | CA404073880 | SMARCA4 | c.4426G>C (p.Gly1476Arg) c.4330G>C (p.Gly1444Arg) c.4231G>C (p.Gly1411Arg) c.497G>C c.457G>C (p.Gly153Arg) c.271G>C (p.Gly91Arg) n.2571G>C c.2824G>C (p.Gly942Arg) c.1787G>C c.4327G>C (p.Gly1443Arg) c.2887G>C (p.Gly963Arg) c.4240G>C (p.Gly1414Arg) c.2615G>C c.4336G>C (p.Gly1446Arg) c.2694G>C n.823G>C c.3753G>C c.2967G>C c.3002G>C c.2984G>C c.2818G>C (p.Gly940Arg) c.879G>C c.28G>C (p.Gly10Arg) c.2241G>C (n.2241G>C) c.2673G>C c.2178G>C (n.2178G>C) c.2630G>C n.833G>C c.2584G>C (p.Gly862Arg) c.4432G>C (p.Gly1478Arg) n.644G>C n.2768G>C n.2303G>C c.409G>C n.2153G>C c.4339G>C (p.Gly1447Arg) n.4720G>C | dbSNP |
19 | g.11041466G>T | CA404073879 | SMARCA4 | c.4426G>T (p.Gly1476Trp) c.4330G>T (p.Gly1444Trp) c.4231G>T (p.Gly1411Trp) c.497G>T c.457G>T (p.Gly153Trp) c.271G>T (p.Gly91Trp) n.2571G>T c.2824G>T (p.Gly942Trp) c.1787G>T c.4327G>T (p.Gly1443Trp) c.2887G>T (p.Gly963Trp) c.4240G>T (p.Gly1414Trp) c.2615G>T c.4336G>T (p.Gly1446Trp) c.2694G>T n.823G>T c.3753G>T c.2967G>T c.3002G>T c.2984G>T c.2818G>T (p.Gly940Trp) c.879G>T c.28G>T (p.Gly10Trp) c.2241G>T (n.2241G>T) c.2673G>T c.2178G>T (n.2178G>T) c.2630G>T n.833G>T c.2584G>T (p.Gly862Trp) c.4432G>T (p.Gly1478Trp) n.644G>T n.2768G>T n.2303G>T c.409G>T n.2153G>T c.4339G>T (p.Gly1447Trp) n.4720G>T | dbSNP |
19 | g.11041467G>A | CA404073883 | SMARCA4 | c.4427G>A (p.Gly1476Glu) c.4331G>A (p.Gly1444Glu) c.4232G>A (p.Gly1411Glu) c.498G>A c.458G>A (p.Gly153Glu) c.272G>A (p.Gly91Glu) n.2572G>A c.2825G>A (p.Gly942Glu) c.1788G>A c.4328G>A (p.Gly1443Glu) c.2888G>A (p.Gly963Glu) c.4241G>A (p.Gly1414Glu) c.2616G>A c.4337G>A (p.Gly1446Glu) c.2695G>A n.824G>A c.3754G>A c.2968G>A c.3003G>A c.2985G>A c.2819G>A (p.Gly940Glu) c.880G>A c.29G>A (p.Gly10Glu) c.2242G>A (n.2242G>A) c.2674G>A c.2179G>A (n.2179G>A) c.2631G>A n.834G>A c.2585G>A (p.Gly862Glu) c.4433G>A (p.Gly1478Glu) n.645G>A n.2769G>A n.2304G>A n.2154G>A c.4340G>A (p.Gly1447Glu) n.4721G>A | dbSNP |
19 | g.11041467G>C | CA404073886 | SMARCA4 | c.4427G>C (p.Gly1476Ala) c.4331G>C (p.Gly1444Ala) c.4232G>C (p.Gly1411Ala) c.498G>C c.458G>C (p.Gly153Ala) c.272G>C (p.Gly91Ala) n.2572G>C c.2825G>C (p.Gly942Ala) c.1788G>C c.4328G>C (p.Gly1443Ala) c.2888G>C (p.Gly963Ala) c.4241G>C (p.Gly1414Ala) c.2616G>C c.4337G>C (p.Gly1446Ala) c.2695G>C n.824G>C c.3754G>C c.2968G>C c.3003G>C c.2985G>C c.2819G>C (p.Gly940Ala) c.880G>C c.29G>C (p.Gly10Ala) c.2242G>C (n.2242G>C) c.2674G>C c.2179G>C (n.2179G>C) c.2631G>C n.834G>C c.2585G>C (p.Gly862Ala) c.4433G>C (p.Gly1478Ala) n.645G>C n.2769G>C n.2304G>C n.2154G>C c.4340G>C (p.Gly1447Ala) n.4721G>C | ClinVar dbSNP |
19 | g.11041467G= | CA2322735065 | SMARCA4 | c.4427G= (p.Gly1476=) c.4331G= (p.Gly1444=) c.4232G= (p.Gly1411=) c.498G= c.458G= (p.Gly153=) c.272G= (p.Gly91=) n.2572G= c.2825G= (p.Gly942=) c.1788G= c.4328G= (p.Gly1443=) c.2888G= (p.Gly963=) c.4241G= (p.Gly1414=) c.2616G= c.4337G= (p.Gly1446=) c.2695G= n.824G= c.3754G= c.2968G= c.3003G= c.2985G= c.2819G= (p.Gly940=) c.880G= c.29G= (p.Gly10=) c.2242G= (n.2242G=) c.2674G= c.2179G= (n.2179G=) c.2631G= n.834G= c.2585G= (p.Gly862=) c.4433G= (p.Gly1478=) n.645G= n.2769G= n.2304G= n.2154G= c.4340G= (p.Gly1447=) n.4721G= | |
19 | g.11041467G>T | CA404073885 | SMARCA4 | c.4427G>T (p.Gly1476Val) c.4331G>T (p.Gly1444Val) c.4232G>T (p.Gly1411Val) c.498G>T c.458G>T (p.Gly153Val) c.272G>T (p.Gly91Val) n.2572G>T c.2825G>T (p.Gly942Val) c.1788G>T c.4328G>T (p.Gly1443Val) c.2888G>T (p.Gly963Val) c.4241G>T (p.Gly1414Val) c.2616G>T c.4337G>T (p.Gly1446Val) c.2695G>T n.824G>T c.3754G>T c.2968G>T c.3003G>T c.2985G>T c.2819G>T (p.Gly940Val) c.880G>T c.29G>T (p.Gly10Val) c.2242G>T (n.2242G>T) c.2674G>T c.2179G>T (n.2179G>T) c.2631G>T n.834G>T c.2585G>T (p.Gly862Val) c.4433G>T (p.Gly1478Val) n.645G>T n.2769G>T n.2304G>T n.2154G>T c.4340G>T (p.Gly1447Val) n.4721G>T | |
19 | g.11041468G>A | CA505743903 | SMARCA4 | c.4428G>A (p.Gly1476=) c.4332G>A (p.Gly1444=) c.4233G>A (p.Gly1411=) c.499G>A c.459G>A (p.Gly153=) c.273G>A (p.Gly91=) n.2573G>A c.2826G>A (p.Gly942=) c.1789G>A c.4329G>A (p.Gly1443=) c.2889G>A (p.Gly963=) c.4242G>A (p.Gly1414=) c.2617G>A c.4338G>A (p.Gly1446=) c.2696G>A n.825G>A c.3755G>A c.2969G>A c.3004G>A c.2986G>A c.2820G>A (p.Gly940=) c.881G>A c.30G>A (p.Gly10=) c.2243G>A (n.2243G>A) c.2675G>A c.2180G>A (n.2180G>A) c.2632G>A n.835G>A c.2586G>A (p.Gly862=) c.4434G>A (p.Gly1478=) n.646G>A n.2770G>A n.2305G>A n.2155G>A c.4341G>A (p.Gly1447=) n.4722G>A | ClinVar gnomAD v4 |
19 | g.11041468G>C | CA505743905 | SMARCA4 | c.4428G>C (p.Gly1476=) c.4332G>C (p.Gly1444=) c.4233G>C (p.Gly1411=) c.499G>C c.459G>C (p.Gly153=) c.273G>C (p.Gly91=) n.2573G>C c.2826G>C (p.Gly942=) c.1789G>C c.4329G>C (p.Gly1443=) c.2889G>C (p.Gly963=) c.4242G>C (p.Gly1414=) c.2617G>C c.4338G>C (p.Gly1446=) c.2696G>C n.825G>C c.3755G>C c.2969G>C c.3004G>C c.2986G>C c.2820G>C (p.Gly940=) c.881G>C c.30G>C (p.Gly10=) c.2243G>C (n.2243G>C) c.2675G>C c.2180G>C (n.2180G>C) c.2632G>C n.835G>C c.2586G>C (p.Gly862=) c.4434G>C (p.Gly1478=) n.646G>C n.2770G>C n.2305G>C n.2155G>C c.4341G>C (p.Gly1447=) n.4722G>C | ClinVar dbSNP |
19 | g.11041468G= | CA2322735066 | SMARCA4 | c.4428G= (p.Gly1476=) c.4332G= (p.Gly1444=) c.4233G= (p.Gly1411=) c.499G= c.459G= (p.Gly153=) c.273G= (p.Gly91=) n.2573G= c.2826G= (p.Gly942=) c.1789G= c.4329G= (p.Gly1443=) c.2889G= (p.Gly963=) c.4242G= (p.Gly1414=) c.2617G= c.4338G= (p.Gly1446=) c.2696G= n.825G= c.3755G= c.2969G= c.3004G= c.2986G= c.2820G= (p.Gly940=) c.881G= c.30G= (p.Gly10=) c.2243G= (n.2243G=) c.2675G= c.2180G= (n.2180G=) c.2632G= n.835G= c.2586G= (p.Gly862=) c.4434G= (p.Gly1478=) n.646G= n.2770G= n.2305G= n.2155G= c.4341G= (p.Gly1447=) n.4722G= | |
19 | g.11041468G>T | CA505743906 | SMARCA4 | c.4428G>T (p.Gly1476=) c.4332G>T (p.Gly1444=) c.4233G>T (p.Gly1411=) c.499G>T c.459G>T (p.Gly153=) c.273G>T (p.Gly91=) n.2573G>T c.2826G>T (p.Gly942=) c.1789G>T c.4329G>T (p.Gly1443=) c.2889G>T (p.Gly963=) c.4242G>T (p.Gly1414=) c.2617G>T c.4338G>T (p.Gly1446=) c.2696G>T n.825G>T c.3755G>T c.2969G>T c.3004G>T c.2986G>T c.2820G>T (p.Gly940=) c.881G>T c.30G>T (p.Gly10=) c.2243G>T (n.2243G>T) c.2675G>T c.2180G>T (n.2180G>T) c.2632G>T n.835G>T c.2586G>T (p.Gly862=) c.4434G>T (p.Gly1478=) n.646G>T n.2770G>T n.2305G>T n.2155G>T c.4341G>T (p.Gly1447=) n.4722G>T | dbSNP |
19 | g.11041469C>A | CA505743907 | SMARCA4 | c.4429C>A (p.Arg1477=) c.4333C>A (p.Arg1445=) c.4234C>A (p.Arg1412=) c.500C>A c.460C>A (p.Arg154=) c.274C>A (p.Arg92=) n.2574C>A c.2827C>A (p.Arg943=) c.1790C>A c.4330C>A (p.Arg1444=) c.2890C>A (p.Arg964=) c.4243C>A (p.Arg1415=) c.2618C>A c.4339C>A (p.Arg1447=) c.2697C>A n.826C>A c.3756C>A c.2970C>A c.3005C>A c.2987C>A c.2821C>A (p.Arg941=) c.882C>A c.31C>A (p.Arg11=) c.2244C>A (n.2244C>A) c.2676C>A c.2181C>A (n.2181C>A) c.2633C>A n.836C>A c.2587C>A (p.Arg863=) c.4435C>A (p.Arg1479=) n.647C>A n.2771C>A n.2306C>A n.2156C>A c.4342C>A (p.Arg1448=) n.4723C>A | dbSNP |
19 | g.11041469C= | CA2322735068 | SMARCA4 | c.4429C= (p.Arg1477=) c.4333C= (p.Arg1445=) c.4234C= (p.Arg1412=) c.500C= c.460C= (p.Arg154=) c.274C= (p.Arg92=) n.2574C= c.2827C= (p.Arg943=) c.1790C= c.4330C= (p.Arg1444=) c.2890C= (p.Arg964=) c.4243C= (p.Arg1415=) c.2618C= c.4339C= (p.Arg1447=) c.2697C= n.826C= c.3756C= c.2970C= c.3005C= c.2987C= c.2821C= (p.Arg941=) c.882C= c.31C= (p.Arg11=) c.2244C= (n.2244C=) c.2676C= c.2181C= (n.2181C=) c.2633C= n.836C= c.2587C= (p.Arg863=) c.4435C= (p.Arg1479=) n.647C= n.2771C= n.2306C= n.2156C= c.4342C= (p.Arg1448=) n.4723C= | |
19 | g.11041469C>G | CA404073889 | SMARCA4 | c.4429C>G (p.Arg1477Gly) c.4333C>G (p.Arg1445Gly) c.4234C>G (p.Arg1412Gly) c.500C>G c.460C>G (p.Arg154Gly) c.274C>G (p.Arg92Gly) n.2574C>G c.2827C>G (p.Arg943Gly) c.1790C>G c.4330C>G (p.Arg1444Gly) c.2890C>G (p.Arg964Gly) c.4243C>G (p.Arg1415Gly) c.2618C>G c.4339C>G (p.Arg1447Gly) c.2697C>G n.826C>G c.3756C>G c.2970C>G c.3005C>G c.2987C>G c.2821C>G (p.Arg941Gly) c.882C>G c.31C>G (p.Arg11Gly) c.2244C>G (n.2244C>G) c.2676C>G c.2181C>G (n.2181C>G) c.2633C>G n.836C>G c.2587C>G (p.Arg863Gly) c.4435C>G (p.Arg1479Gly) n.647C>G n.2771C>G n.2306C>G n.2156C>G c.4342C>G (p.Arg1448Gly) n.4723C>G | |
19 | g.11041469C>T | CA9204704 | SMARCA4 | c.4429C>T (p.Arg1477Trp) c.4333C>T (p.Arg1445Trp) c.4234C>T (p.Arg1412Trp) c.500C>T c.460C>T (p.Arg154Trp) c.274C>T (p.Arg92Trp) n.2574C>T c.2827C>T (p.Arg943Trp) c.1790C>T c.4330C>T (p.Arg1444Trp) c.2890C>T (p.Arg964Trp) c.4243C>T (p.Arg1415Trp) c.2618C>T c.4339C>T (p.Arg1447Trp) c.2697C>T n.826C>T c.3756C>T c.2970C>T c.3005C>T c.2987C>T c.2821C>T (p.Arg941Trp) c.882C>T c.31C>T (p.Arg11Trp) c.2244C>T (n.2244C>T) c.2676C>T c.2181C>T (n.2181C>T) c.2633C>T n.836C>T c.2587C>T (p.Arg863Trp) c.4435C>T (p.Arg1479Trp) n.647C>T n.2771C>T n.2306C>T n.2156C>T c.4342C>T (p.Arg1448Trp) n.4723C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
19 | g.11041470G>A | CA16615974 | SMARCA4 | c.4430G>A (p.Arg1477Gln) c.4334G>A (p.Arg1445Gln) c.4235G>A (p.Arg1412Gln) c.501G>A c.461G>A (p.Arg154Gln) c.275G>A (p.Arg92Gln) n.2575G>A c.2828G>A (p.Arg943Gln) c.1791G>A c.4331G>A (p.Arg1444Gln) c.2891G>A (p.Arg964Gln) c.4244G>A (p.Arg1415Gln) c.2619G>A c.4340G>A (p.Arg1447Gln) c.2698G>A n.827G>A c.3757G>A c.2971G>A c.3006G>A c.2988G>A c.2822G>A (p.Arg941Gln) c.883G>A c.32G>A (p.Arg11Gln) c.2245G>A (n.2245G>A) c.2677G>A c.2182G>A (n.2182G>A) c.2634G>A n.837G>A c.2588G>A (p.Arg863Gln) c.4436G>A (p.Arg1479Gln) n.648G>A n.2772G>A n.2307G>A n.2157G>A c.4343G>A (p.Arg1448Gln) n.4724G>A | ClinVar dbSNP |
19 | g.11041470G>C | CA404073892 | SMARCA4 | c.4430G>C (p.Arg1477Pro) c.4334G>C (p.Arg1445Pro) c.4235G>C (p.Arg1412Pro) c.501G>C c.461G>C (p.Arg154Pro) c.275G>C (p.Arg92Pro) n.2575G>C c.2828G>C (p.Arg943Pro) c.1791G>C c.4331G>C (p.Arg1444Pro) c.2891G>C (p.Arg964Pro) c.4244G>C (p.Arg1415Pro) c.2619G>C c.4340G>C (p.Arg1447Pro) c.2698G>C n.827G>C c.3757G>C c.2971G>C c.3006G>C c.2988G>C c.2822G>C (p.Arg941Pro) c.883G>C c.32G>C (p.Arg11Pro) c.2245G>C (n.2245G>C) c.2677G>C c.2182G>C (n.2182G>C) c.2634G>C n.837G>C c.2588G>C (p.Arg863Pro) c.4436G>C (p.Arg1479Pro) n.648G>C n.2772G>C n.2307G>C n.2157G>C c.4343G>C (p.Arg1448Pro) n.4724G>C | dbSNP |
19 | g.11041470G= | CA2322735069 | SMARCA4 | c.4430G= (p.Arg1477=) c.4334G= (p.Arg1445=) c.4235G= (p.Arg1412=) c.501G= c.461G= (p.Arg154=) c.275G= (p.Arg92=) n.2575G= c.2828G= (p.Arg943=) c.1791G= c.4331G= (p.Arg1444=) c.2891G= (p.Arg964=) c.4244G= (p.Arg1415=) c.2619G= c.4340G= (p.Arg1447=) c.2698G= n.827G= c.3757G= c.2971G= c.3006G= c.2988G= c.2822G= (p.Arg941=) c.883G= c.32G= (p.Arg11=) c.2245G= (n.2245G=) c.2677G= c.2182G= (n.2182G=) c.2634G= n.837G= c.2588G= (p.Arg863=) c.4436G= (p.Arg1479=) n.648G= n.2772G= n.2307G= n.2157G= c.4343G= (p.Arg1448=) n.4724G= | |
19 | g.11041470G>T | CA404073894 | SMARCA4 | c.4430G>T (p.Arg1477Leu) c.4334G>T (p.Arg1445Leu) c.4235G>T (p.Arg1412Leu) c.501G>T c.461G>T (p.Arg154Leu) c.275G>T (p.Arg92Leu) n.2575G>T c.2828G>T (p.Arg943Leu) c.1791G>T c.4331G>T (p.Arg1444Leu) c.2891G>T (p.Arg964Leu) c.4244G>T (p.Arg1415Leu) c.2619G>T c.4340G>T (p.Arg1447Leu) c.2698G>T n.827G>T c.3757G>T c.2971G>T c.3006G>T c.2988G>T c.2822G>T (p.Arg941Leu) c.883G>T c.32G>T (p.Arg11Leu) c.2245G>T (n.2245G>T) c.2677G>T c.2182G>T (n.2182G>T) c.2634G>T n.837G>T c.2588G>T (p.Arg863Leu) c.4436G>T (p.Arg1479Leu) n.648G>T n.2772G>T n.2307G>T n.2157G>T c.4343G>T (p.Arg1448Leu) n.4724G>T | dbSNP |
19 | g.11041471G>A | CA505743910 | SMARCA4 | c.4431G>A (p.Arg1477=) c.4335G>A (p.Arg1445=) c.4236G>A (p.Arg1412=) c.502G>A c.462G>A (p.Arg154=) c.276G>A (p.Arg92=) n.2576G>A c.2829G>A (p.Arg943=) c.1792G>A c.4332G>A (p.Arg1444=) c.2892G>A (p.Arg964=) c.4245G>A (p.Arg1415=) c.2620G>A c.4341G>A (p.Arg1447=) c.2699G>A n.828G>A c.3758G>A c.2972G>A c.3007G>A c.2989G>A c.2823G>A (p.Arg941=) c.884G>A c.33G>A (p.Arg11=) c.2246G>A (n.2246G>A) c.2678G>A c.2183G>A (n.2183G>A) c.2635G>A n.838G>A c.2589G>A (p.Arg863=) c.4437G>A (p.Arg1479=) n.649G>A n.2773G>A n.2308G>A n.2158G>A c.4344G>A (p.Arg1448=) n.4725G>A | dbSNP |
19 | g.11041471G>C | CA505743912 | SMARCA4 | c.4431G>C (p.Arg1477=) c.4335G>C (p.Arg1445=) c.4236G>C (p.Arg1412=) c.502G>C c.462G>C (p.Arg154=) c.276G>C (p.Arg92=) n.2576G>C c.2829G>C (p.Arg943=) c.1792G>C c.4332G>C (p.Arg1444=) c.2892G>C (p.Arg964=) c.4245G>C (p.Arg1415=) c.2620G>C c.4341G>C (p.Arg1447=) c.2699G>C n.828G>C c.3758G>C c.2972G>C c.3007G>C c.2989G>C c.2823G>C (p.Arg941=) c.884G>C c.33G>C (p.Arg11=) c.2246G>C (n.2246G>C) c.2678G>C c.2183G>C (n.2183G>C) c.2635G>C n.838G>C c.2589G>C (p.Arg863=) c.4437G>C (p.Arg1479=) n.649G>C n.2773G>C n.2308G>C n.2158G>C c.4344G>C (p.Arg1448=) n.4725G>C | dbSNP gnomAD v2 |
19 | g.11041471G= | CA2322735071 | SMARCA4 | c.4431G= (p.Arg1477=) c.4335G= (p.Arg1445=) c.4236G= (p.Arg1412=) c.502G= c.462G= (p.Arg154=) c.276G= (p.Arg92=) n.2576G= c.2829G= (p.Arg943=) c.1792G= c.4332G= (p.Arg1444=) c.2892G= (p.Arg964=) c.4245G= (p.Arg1415=) c.2620G= c.4341G= (p.Arg1447=) c.2699G= n.828G= c.3758G= c.2972G= c.3007G= c.2989G= c.2823G= (p.Arg941=) c.884G= c.33G= (p.Arg11=) c.2246G= (n.2246G=) c.2678G= c.2183G= (n.2183G=) c.2635G= n.838G= c.2589G= (p.Arg863=) c.4437G= (p.Arg1479=) n.649G= n.2773G= n.2308G= n.2158G= c.4344G= (p.Arg1448=) n.4725G= | |
19 | g.11041471G>T | CA505743913 | SMARCA4 | c.4431G>T (p.Arg1477=) c.4335G>T (p.Arg1445=) c.4236G>T (p.Arg1412=) c.502G>T c.462G>T (p.Arg154=) c.276G>T (p.Arg92=) n.2576G>T c.2829G>T (p.Arg943=) c.1792G>T c.4332G>T (p.Arg1444=) c.2892G>T (p.Arg964=) c.4245G>T (p.Arg1415=) c.2620G>T c.4341G>T (p.Arg1447=) c.2699G>T n.828G>T c.3758G>T c.2972G>T c.3007G>T c.2989G>T c.2823G>T (p.Arg941=) c.884G>T c.33G>T (p.Arg11=) c.2246G>T (n.2246G>T) c.2678G>T c.2183G>T (n.2183G>T) c.2635G>T n.838G>T c.2589G>T (p.Arg863=) c.4437G>T (p.Arg1479=) n.649G>T n.2773G>T n.2308G>T n.2158G>T c.4344G>T (p.Arg1448=) n.4725G>T | ClinVar dbSNP gnomAD v4 |
19 | g.11041472C>A | CA404073897 | SMARCA4 | c.4432C>A (p.Pro1478Thr) c.4336C>A (p.Pro1446Thr) c.4237C>A (p.Pro1413Thr) c.503C>A c.463C>A (p.Pro155Thr) c.277C>A (p.Pro93Thr) n.2577C>A c.2830C>A (p.Pro944Thr) c.1793C>A c.4333C>A (p.Pro1445Thr) c.2893C>A (p.Pro965Thr) c.4246C>A (p.Pro1416Thr) c.2621C>A c.4342C>A (p.Pro1448Thr) c.2700C>A n.829C>A c.3759C>A c.2973C>A c.3008C>A c.2990C>A c.2824C>A (p.Pro942Thr) c.885C>A c.34C>A (p.Pro12Thr) c.2247C>A (n.2247C>A) c.2679C>A c.2184C>A (n.2184C>A) c.2636C>A n.839C>A c.2590C>A (p.Pro864Thr) c.4438C>A (p.Pro1480Thr) n.650C>A n.2774C>A n.2309C>A n.2159C>A c.4345C>A (p.Pro1449Thr) n.4726C>A | dbSNP |
19 | g.11041472C= | CA2322735072 | SMARCA4 | c.4432C= (p.Pro1478=) c.4336C= (p.Pro1446=) c.4237C= (p.Pro1413=) c.503C= c.463C= (p.Pro155=) c.277C= (p.Pro93=) n.2577C= c.2830C= (p.Pro944=) c.1793C= c.4333C= (p.Pro1445=) c.2893C= (p.Pro965=) c.4246C= (p.Pro1416=) c.2621C= c.4342C= (p.Pro1448=) c.2700C= n.829C= c.3759C= c.2973C= c.3008C= c.2990C= c.2824C= (p.Pro942=) c.885C= c.34C= (p.Pro12=) c.2247C= (n.2247C=) c.2679C= c.2184C= (n.2184C=) c.2636C= n.839C= c.2590C= (p.Pro864=) c.4438C= (p.Pro1480=) n.650C= n.2774C= n.2309C= n.2159C= c.4345C= (p.Pro1449=) n.4726C= | |
19 | g.11041472C>G | CA404073898 | SMARCA4 | c.4432C>G (p.Pro1478Ala) c.4336C>G (p.Pro1446Ala) c.4237C>G (p.Pro1413Ala) c.503C>G c.463C>G (p.Pro155Ala) c.277C>G (p.Pro93Ala) n.2577C>G c.2830C>G (p.Pro944Ala) c.1793C>G c.4333C>G (p.Pro1445Ala) c.2893C>G (p.Pro965Ala) c.4246C>G (p.Pro1416Ala) c.2621C>G c.4342C>G (p.Pro1448Ala) c.2700C>G n.829C>G c.3759C>G c.2973C>G c.3008C>G c.2990C>G c.2824C>G (p.Pro942Ala) c.885C>G c.34C>G (p.Pro12Ala) c.2247C>G (n.2247C>G) c.2679C>G c.2184C>G (n.2184C>G) c.2636C>G n.839C>G c.2590C>G (p.Pro864Ala) c.4438C>G (p.Pro1480Ala) n.650C>G n.2774C>G n.2309C>G n.2159C>G c.4345C>G (p.Pro1449Ala) n.4726C>G | dbSNP |
19 | g.11041472C>T | CA404073899 | SMARCA4 | c.4432C>T (p.Pro1478Ser) c.4336C>T (p.Pro1446Ser) c.4237C>T (p.Pro1413Ser) c.503C>T c.463C>T (p.Pro155Ser) c.277C>T (p.Pro93Ser) n.2577C>T c.2830C>T (p.Pro944Ser) c.1793C>T c.4333C>T (p.Pro1445Ser) c.2893C>T (p.Pro965Ser) c.4246C>T (p.Pro1416Ser) c.2621C>T c.4342C>T (p.Pro1448Ser) c.2700C>T n.829C>T c.3759C>T c.2973C>T c.3008C>T c.2990C>T c.2824C>T (p.Pro942Ser) c.885C>T c.34C>T (p.Pro12Ser) c.2247C>T (n.2247C>T) c.2679C>T c.2184C>T (n.2184C>T) c.2636C>T n.839C>T c.2590C>T (p.Pro864Ser) c.4438C>T (p.Pro1480Ser) n.650C>T n.2774C>T n.2309C>T n.2159C>T c.4345C>T (p.Pro1449Ser) n.4726C>T | ClinVar dbSNP gnomAD v4 |
19 | g.11041473C>A | CA404073902 | SMARCA4 | c.4433C>A (p.Pro1478Gln) c.4337C>A (p.Pro1446Gln) c.4238C>A (p.Pro1413Gln) c.504C>A c.464C>A (p.Pro155Gln) c.278C>A (p.Pro93Gln) n.2578C>A c.2831C>A (p.Pro944Gln) c.1794C>A c.4334C>A (p.Pro1445Gln) c.2894C>A (p.Pro965Gln) c.4247C>A (p.Pro1416Gln) c.2622C>A c.4343C>A (p.Pro1448Gln) c.2701C>A n.830C>A c.3760C>A c.2974C>A c.3009C>A c.2991C>A c.2825C>A (p.Pro942Gln) c.886C>A c.35C>A (p.Pro12Gln) c.2248C>A (n.2248C>A) c.2680C>A c.2185C>A (n.2185C>A) c.2637C>A n.840C>A c.2591C>A (p.Pro864Gln) c.4439C>A (p.Pro1480Gln) n.651C>A n.2775C>A n.2310C>A n.2160C>A c.4346C>A (p.Pro1449Gln) n.4727C>A | dbSNP |
19 | g.11041473C= | CA2322735074 | SMARCA4 | c.4433C= (p.Pro1478=) c.4337C= (p.Pro1446=) c.4238C= (p.Pro1413=) c.504C= c.464C= (p.Pro155=) c.278C= (p.Pro93=) n.2578C= c.2831C= (p.Pro944=) c.1794C= c.4334C= (p.Pro1445=) c.2894C= (p.Pro965=) c.4247C= (p.Pro1416=) c.2622C= c.4343C= (p.Pro1448=) c.2701C= n.830C= c.3760C= c.2974C= c.3009C= c.2991C= c.2825C= (p.Pro942=) c.886C= c.35C= (p.Pro12=) c.2248C= (n.2248C=) c.2680C= c.2185C= (n.2185C=) c.2637C= n.840C= c.2591C= (p.Pro864=) c.4439C= (p.Pro1480=) n.651C= n.2775C= n.2310C= n.2160C= c.4346C= (p.Pro1449=) n.4727C= | |
19 | g.11041473C>G | CA404073904 | SMARCA4 | c.4433C>G (p.Pro1478Arg) c.4337C>G (p.Pro1446Arg) c.4238C>G (p.Pro1413Arg) c.504C>G c.464C>G (p.Pro155Arg) c.278C>G (p.Pro93Arg) n.2578C>G c.2831C>G (p.Pro944Arg) c.1794C>G c.4334C>G (p.Pro1445Arg) c.2894C>G (p.Pro965Arg) c.4247C>G (p.Pro1416Arg) c.2622C>G c.4343C>G (p.Pro1448Arg) c.2701C>G n.830C>G c.3760C>G c.2974C>G c.3009C>G c.2991C>G c.2825C>G (p.Pro942Arg) c.886C>G c.35C>G (p.Pro12Arg) c.2248C>G (n.2248C>G) c.2680C>G c.2185C>G (n.2185C>G) c.2637C>G n.840C>G c.2591C>G (p.Pro864Arg) c.4439C>G (p.Pro1480Arg) n.651C>G n.2775C>G n.2310C>G n.2160C>G c.4346C>G (p.Pro1449Arg) n.4727C>G | dbSNP |
19 | g.11041473C>T | CA9204705 | SMARCA4 | c.4433C>T (p.Pro1478Leu) c.4337C>T (p.Pro1446Leu) c.4238C>T (p.Pro1413Leu) c.504C>T c.464C>T (p.Pro155Leu) c.278C>T (p.Pro93Leu) n.2578C>T c.2831C>T (p.Pro944Leu) c.1794C>T c.4334C>T (p.Pro1445Leu) c.2894C>T (p.Pro965Leu) c.4247C>T (p.Pro1416Leu) c.2622C>T c.4343C>T (p.Pro1448Leu) c.2701C>T n.830C>T c.3760C>T c.2974C>T c.3009C>T c.2991C>T c.2825C>T (p.Pro942Leu) c.886C>T c.35C>T (p.Pro12Leu) c.2248C>T (n.2248C>T) c.2680C>T c.2185C>T (n.2185C>T) c.2637C>T n.840C>T c.2591C>T (p.Pro864Leu) c.4439C>T (p.Pro1480Leu) n.651C>T n.2775C>T n.2310C>T n.2160C>T c.4346C>T (p.Pro1449Leu) n.4727C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11041474G>A | CA9204707 | SMARCA4 | c.4434G>A (p.Pro1478=) c.4338G>A (p.Pro1446=) c.4239G>A (p.Pro1413=) c.505G>A c.465G>A (p.Pro155=) c.279G>A (p.Pro93=) n.2579G>A c.2832G>A (p.Pro944=) c.1795G>A c.4335G>A (p.Pro1445=) c.2895G>A (p.Pro965=) c.4248G>A (p.Pro1416=) c.2623G>A c.4344G>A (p.Pro1448=) c.2702G>A n.831G>A c.3761G>A c.2975G>A c.3010G>A c.2992G>A c.2826G>A (p.Pro942=) c.887G>A c.36G>A (p.Pro12=) c.2249G>A (n.2249G>A) c.2681G>A c.2186G>A (n.2186G>A) c.2638G>A n.841G>A c.2592G>A (p.Pro864=) c.4440G>A (p.Pro1480=) n.652G>A n.2776G>A n.2311G>A n.2161G>A c.4347G>A (p.Pro1449=) n.4728G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
19 | g.11041474G>C | CA9204706 | SMARCA4 | c.4434G>C (p.Pro1478=) c.4338G>C (p.Pro1446=) c.4239G>C (p.Pro1413=) c.505G>C c.465G>C (p.Pro155=) c.279G>C (p.Pro93=) n.2579G>C c.2832G>C (p.Pro944=) c.1795G>C c.4335G>C (p.Pro1445=) c.2895G>C (p.Pro965=) c.4248G>C (p.Pro1416=) c.2623G>C c.4344G>C (p.Pro1448=) c.2702G>C n.831G>C c.3761G>C c.2975G>C c.3010G>C c.2992G>C c.2826G>C (p.Pro942=) c.887G>C c.36G>C (p.Pro12=) c.2249G>C (n.2249G>C) c.2681G>C c.2186G>C (n.2186G>C) c.2638G>C n.841G>C c.2592G>C (p.Pro864=) c.4440G>C (p.Pro1480=) n.652G>C n.2776G>C n.2311G>C n.2161G>C c.4347G>C (p.Pro1449=) n.4728G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11041474G= | CA2322735075 | SMARCA4 | c.4434G= (p.Pro1478=) c.4338G= (p.Pro1446=) c.4239G= (p.Pro1413=) c.505G= c.465G= (p.Pro155=) c.279G= (p.Pro93=) n.2579G= c.2832G= (p.Pro944=) c.1795G= c.4335G= (p.Pro1445=) c.2895G= (p.Pro965=) c.4248G= (p.Pro1416=) c.2623G= c.4344G= (p.Pro1448=) c.2702G= n.831G= c.3761G= c.2975G= c.3010G= c.2992G= c.2826G= (p.Pro942=) c.887G= c.36G= (p.Pro12=) c.2249G= (n.2249G=) c.2681G= c.2186G= (n.2186G=) c.2638G= n.841G= c.2592G= (p.Pro864=) c.4440G= (p.Pro1480=) n.652G= n.2776G= n.2311G= n.2161G= c.4347G= (p.Pro1449=) n.4728G= | |
19 | g.11041474G>T | CA505743916 | SMARCA4 | c.4434G>T (p.Pro1478=) c.4338G>T (p.Pro1446=) c.4239G>T (p.Pro1413=) c.505G>T c.465G>T (p.Pro155=) c.279G>T (p.Pro93=) n.2579G>T c.2832G>T (p.Pro944=) c.1795G>T c.4335G>T (p.Pro1445=) c.2895G>T (p.Pro965=) c.4248G>T (p.Pro1416=) c.2623G>T c.4344G>T (p.Pro1448=) c.2702G>T n.831G>T c.3761G>T c.2975G>T c.3010G>T c.2992G>T c.2826G>T (p.Pro942=) c.887G>T c.36G>T (p.Pro12=) c.2249G>T (n.2249G>T) c.2681G>T c.2186G>T (n.2186G>T) c.2638G>T n.841G>T c.2592G>T (p.Pro864=) c.4440G>T (p.Pro1480=) n.652G>T n.2776G>T n.2311G>T n.2161G>T c.4347G>T (p.Pro1449=) n.4728G>T | ClinVar dbSNP |
19 | g.11041475C>A | CA404073909 | SMARCA4 | c.4435C>A (p.Pro1479Thr) c.4339C>A (p.Pro1447Thr) c.4240C>A (p.Pro1414Thr) c.506C>A c.466C>A (p.Pro156Thr) c.280C>A (p.Pro94Thr) n.2580C>A c.2833C>A (p.Pro945Thr) c.1796C>A c.4336C>A (p.Pro1446Thr) c.2896C>A (p.Pro966Thr) c.4249C>A (p.Pro1417Thr) c.2624C>A c.4345C>A (p.Pro1449Thr) c.2703C>A n.832C>A c.3762C>A c.2976C>A c.3011C>A c.2993C>A c.2827C>A (p.Pro943Thr) c.888C>A c.37C>A (p.Pro13Thr) c.2250C>A (n.2250C>A) c.2682C>A c.2187C>A (n.2187C>A) c.2639C>A n.842C>A c.2593C>A (p.Pro865Thr) c.4441C>A (p.Pro1481Thr) n.653C>A n.2777C>A n.2312C>A n.2162C>A c.4348C>A (p.Pro1450Thr) n.4729C>A | dbSNP |
19 | g.11041475C>G | CA404073913 | SMARCA4 | c.4435C>G (p.Pro1479Ala) c.4339C>G (p.Pro1447Ala) c.4240C>G (p.Pro1414Ala) c.506C>G c.466C>G (p.Pro156Ala) c.280C>G (p.Pro94Ala) n.2580C>G c.2833C>G (p.Pro945Ala) c.1796C>G c.4336C>G (p.Pro1446Ala) c.2896C>G (p.Pro966Ala) c.4249C>G (p.Pro1417Ala) c.2624C>G c.4345C>G (p.Pro1449Ala) c.2703C>G n.832C>G c.3762C>G c.2976C>G c.3011C>G c.2993C>G c.2827C>G (p.Pro943Ala) c.888C>G c.37C>G (p.Pro13Ala) c.2250C>G (n.2250C>G) c.2682C>G c.2187C>G (n.2187C>G) c.2639C>G n.842C>G c.2593C>G (p.Pro865Ala) c.4441C>G (p.Pro1481Ala) n.653C>G n.2777C>G n.2312C>G n.2162C>G c.4348C>G (p.Pro1450Ala) n.4729C>G | ClinVar dbSNP |
19 | g.11041475C>T | CA404073911 | SMARCA4 | c.4435C>T (p.Pro1479Ser) c.4339C>T (p.Pro1447Ser) c.4240C>T (p.Pro1414Ser) c.506C>T c.466C>T (p.Pro156Ser) c.280C>T (p.Pro94Ser) n.2580C>T c.2833C>T (p.Pro945Ser) c.1796C>T c.4336C>T (p.Pro1446Ser) c.2896C>T (p.Pro966Ser) c.4249C>T (p.Pro1417Ser) c.2624C>T c.4345C>T (p.Pro1449Ser) c.2703C>T n.832C>T c.3762C>T c.2976C>T c.3011C>T c.2993C>T c.2827C>T (p.Pro943Ser) c.888C>T c.37C>T (p.Pro13Ser) c.2250C>T (n.2250C>T) c.2682C>T c.2187C>T (n.2187C>T) c.2639C>T n.842C>T c.2593C>T (p.Pro865Ser) c.4441C>T (p.Pro1481Ser) n.653C>T n.2777C>T n.2312C>T n.2162C>T c.4348C>T (p.Pro1450Ser) n.4729C>T | dbSNP |
19 | g.11041476C>A | CA404073915 | SMARCA4 | c.4436C>A (p.Pro1479His) c.4340C>A (p.Pro1447His) c.4241C>A (p.Pro1414His) c.507C>A c.467C>A (p.Pro156His) c.281C>A (p.Pro94His) n.2581C>A c.2834C>A (p.Pro945His) c.1797C>A c.4337C>A (p.Pro1446His) c.2897C>A (p.Pro966His) c.4250C>A (p.Pro1417His) c.2625C>A c.4346C>A (p.Pro1449His) c.2704C>A n.833C>A c.3763C>A c.2977C>A c.3012C>A c.2994C>A c.2828C>A (p.Pro943His) c.889C>A c.38C>A (p.Pro13His) c.2251C>A (n.2251C>A) c.2683C>A c.2188C>A (n.2188C>A) c.2640C>A n.843C>A c.2594C>A (p.Pro865His) c.4442C>A (p.Pro1481His) n.654C>A n.2778C>A n.2313C>A n.2163C>A c.4349C>A (p.Pro1450His) n.4730C>A | |
19 | g.11041476C>G | CA404073916 | SMARCA4 | c.4436C>G (p.Pro1479Arg) c.4340C>G (p.Pro1447Arg) c.4241C>G (p.Pro1414Arg) c.507C>G c.467C>G (p.Pro156Arg) c.281C>G (p.Pro94Arg) n.2581C>G c.2834C>G (p.Pro945Arg) c.1797C>G c.4337C>G (p.Pro1446Arg) c.2897C>G (p.Pro966Arg) c.4250C>G (p.Pro1417Arg) c.2625C>G c.4346C>G (p.Pro1449Arg) c.2704C>G n.833C>G c.3763C>G c.2977C>G c.3012C>G c.2994C>G c.2828C>G (p.Pro943Arg) c.889C>G c.38C>G (p.Pro13Arg) c.2251C>G (n.2251C>G) c.2683C>G c.2188C>G (n.2188C>G) c.2640C>G n.843C>G c.2594C>G (p.Pro865Arg) c.4442C>G (p.Pro1481Arg) n.654C>G n.2778C>G n.2313C>G n.2163C>G c.4349C>G (p.Pro1450Arg) n.4730C>G | |
19 | g.11041476C>T | CA404073918 | SMARCA4 | c.4436C>T (p.Pro1479Leu) c.4340C>T (p.Pro1447Leu) c.4241C>T (p.Pro1414Leu) c.507C>T c.467C>T (p.Pro156Leu) c.281C>T (p.Pro94Leu) n.2581C>T c.2834C>T (p.Pro945Leu) c.1797C>T c.4337C>T (p.Pro1446Leu) c.2897C>T (p.Pro966Leu) c.4250C>T (p.Pro1417Leu) c.2625C>T c.4346C>T (p.Pro1449Leu) c.2704C>T n.833C>T c.3763C>T c.2977C>T c.3012C>T c.2994C>T c.2828C>T (p.Pro943Leu) c.889C>T c.38C>T (p.Pro13Leu) c.2251C>T (n.2251C>T) c.2683C>T c.2188C>T (n.2188C>T) c.2640C>T n.843C>T c.2594C>T (p.Pro865Leu) c.4442C>T (p.Pro1481Leu) n.654C>T n.2778C>T n.2313C>T n.2163C>T c.4349C>T (p.Pro1450Leu) n.4730C>T | ClinVar dbSNP |