Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.11041408G>ACA350591SMARCA4c.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
19g.11041408G>CCA505743841SMARCA4c.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
19g.11041408G=CA2322734918SMARCA4c.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=
19g.11041408G>TCA505743840SMARCA4c.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
19g.11041409A=CA2322734925SMARCA4c.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=
19g.11041409A>CCA404073459SMARCA4c.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
19g.11041409A>GCA404073468SMARCA4c.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
19g.11041409A>TCA16616183SMARCA4c.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
19g.11041413_11041415delCA2697556284SMARCA4c.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
19g.11041410C>ACA404073480SMARCA4c.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
19g.11041410C=CA2322734929SMARCA4c.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=
19g.11041410C>GCA404073483SMARCA4c.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
19g.11041410C>TCA404073475SMARCA4c.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
19g.11041411C>ACA505743842SMARCA4c.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
19g.11041411C=CA2322734932SMARCA4c.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=
19g.11041411C>GCA505743843SMARCA4c.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
19g.11041411C>TCA505743844SMARCA4c.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
19g.11041415_11041420dupCA2499225301SMARCA4c.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
19g.11041412A=CA2322734935SMARCA4c.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=
19g.11041412A>CCA404073494SMARCA4c.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
19g.11041412A>GCA404073499SMARCA4c.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
19g.11041412A>TCA404073501SMARCA4c.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
19g.11041413C>ACA404073505SMARCA4c.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
19g.11041413C=CA2322734937SMARCA4c.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=
19g.11041413C>GCA404073508SMARCA4c.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
19g.11041413C>TCA404073512SMARCA4c.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
19g.11041414C>ACA505743845SMARCA4c.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
19g.11041414C>GCA505743846SMARCA4c.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
19g.11041414C>TCA505743847SMARCA4c.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
19g.11041415A>CCA404073515SMARCA4c.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
19g.11041415A>GCA404073529SMARCA4c.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
19g.11041415A>TCA404073526SMARCA4c.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
19g.11041416G>ACA404073535SMARCA4c.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
19g.11041416G>CCA404073538SMARCA4c.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
19g.11041416G=CA2322734944SMARCA4c.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=
19g.11041416G>TCA404073544SMARCA4c.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
19g.11041417C>ACA404073550SMARCA4c.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
19g.11041417C=CA2322734948SMARCA4c.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=
19g.11041417C>GCA404073554SMARCA4c.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
19g.11041417C>TCA505743848SMARCA4c.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
19g.11041418A>CCA404073566SMARCA4c.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
19g.11041418A>GCA404073568SMARCA4c.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
19g.11041418A>TCA404073558SMARCA4c.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
19g.11041419C>ACA404073575SMARCA4c.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
19g.11041419C>GCA404073581SMARCA4c.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
19g.11041419C>TCA404073578SMARCA4c.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
19g.11041420C>ACA505743849SMARCA4c.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
19g.11041420C>GCA505743850SMARCA4c.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
19g.11041420C>TCA505743851SMARCA4c.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
19g.11041420_11041421insTGGGTGCTGGCTGTCCTATTTTACTACTATTGACCCTGAAGGCCATCGAGGAGGGCACA2582467156SMARCA4c.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
19g.11041421C>ACA404073585SMARCA4c.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
19g.11041421C=CA2322734952SMARCA4c.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=
19g.11041421C>GCA404073589SMARCA4c.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
19g.11041421C>TCA16615972SMARCA4c.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
19g.11041422G>ACA404073593SMARCA4c.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
19g.11041422G>CCA404073594SMARCA4c.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
19g.11041422G=CA2322734953SMARCA4c.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=
19g.11041422G>TCA404073597SMARCA4c.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
19g.11041424_11041426delCA2697556286SMARCA4c.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
19g.11041423C>ACA505743853SMARCA4c.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
19g.11041423C=CA2322734954SMARCA4c.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=
19g.11041423C>GCA505743855SMARCA4c.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
19g.11041423C>TCA9204691SMARCA4c.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
19g.11041424A=CA2322734955SMARCA4c.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=
19g.11041424A>CCA404073602SMARCA4c.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
19g.11041424A>GCA404073603SMARCA4c.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
19g.11041424A>TCA404073606SMARCA4c.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
19g.11041425G>ACA404073619SMARCA4c.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
19g.11041425G>CCA404073612SMARCA4c.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
19g.11041425G=CA2322734957SMARCA4c.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=
19g.11041425G>TCA404073611SMARCA4c.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
19g.11041426C>ACA305294372SMARCA4c.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
19g.11041426C=CA2322734962SMARCA4c.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=
19g.11041426C>GCA404073625SMARCA4c.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
19g.11041426C>TCA505743857SMARCA4c.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
19g.11041427C>ACA404073628SMARCA4c.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
19g.11041427C=CA2322734968SMARCA4c.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=
19g.11041427C>GCA404073631SMARCA4c.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
19g.11041427C>TCA162141SMARCA4c.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
19g.11041428G>ACA9204692SMARCA4c.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
19g.11041428G>CCA404073643SMARCA4c.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
19g.11041428G=CA2322734980SMARCA4c.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=
19g.11041428G>TCA404073646SMARCA4c.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
19g.11041429C>ACA505743860SMARCA4c.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
19g.11041429C=CA2322734985SMARCA4c.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=
19g.11041429C>GCA505743861SMARCA4c.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
19g.11041429C>TCA9204693SMARCA4c.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
19g.11041430G>ACA9204694SMARCA4c.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
19g.11041430G>CCA404073647SMARCA4c.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
19g.11041430G=CA2322734991SMARCA4c.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=
19g.11041430G>TCA404073649SMARCA4c.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
19g.11041431A=CA2322734995SMARCA4c.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=
19g.11041431A>CCA404073654SMARCA4c.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
19g.11041431A>GCA404073656SMARCA4c.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
19g.11041431A>TCA404073651SMARCA4c.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
19g.11041432C>ACA9204695SMARCA4c.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
19g.11041432C=CA2322734997SMARCA4c.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=
19g.11041432C>GCA404073657SMARCA4c.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
19g.11041432C>TCA505743866SMARCA4c.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
19g.11041433A=CA2322734999SMARCA4c.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=
19g.11041433A>CCA404073660SMARCA4c.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
19g.11041433A>GCA9204696SMARCA4c.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
19g.11041433A>TCA404073666SMARCA4c.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
19g.11041434A=CA2322735001SMARCA4c.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=
19g.11041434A>CCA404073668SMARCA4c.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
19g.11041434A>GCA404073670SMARCA4c.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
19g.11041434A>TCA404073671SMARCA4c.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
19g.11041435G>ACA505743868SMARCA4c.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
19g.11041435G>CCA404073675SMARCA4c.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
19g.11041435G=CA2322735007SMARCA4c.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=
19g.11041435G>TCA404073678SMARCA4c.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
19g.11041435_11041438delinsGGACCA2322735006SMARCA4c.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
19g.11041436G>ACA9204697SMARCA4c.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
19g.11041436G>CCA404073688SMARCA4c.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
19g.11041436G=CA2322735011SMARCA4c.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=
19g.11041436G>TCA404073691SMARCA4c.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
19g.11041441_11041443delCA2322735010SMARCA4c.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
19g.11041437A=CA2322735014SMARCA4c.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=
19g.11041437A>CCA404073699SMARCA4c.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
19g.11041437A>GCA9204698SMARCA4c.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
19g.11041437A>TCA404073695SMARCA4c.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
19g.11041438C>ACA305294392SMARCA4c.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
19g.11041438C=CA2322735018SMARCA4c.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=
19g.11041438C>GCA404073706SMARCA4c.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
19g.11041438C>TCA349154SMARCA4c.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
19g.11041439G>ACA305294397SMARCA4c.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
19g.11041439G>CCA404073712SMARCA4c.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
19g.11041439G=CA2322735023SMARCA4c.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=
19g.11041439G>TCA404073715SMARCA4c.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
19g.11041440A>CCA404073719SMARCA4c.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
19g.11041440A>GCA404073722SMARCA4c.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
19g.11041440A>TCA404073724SMARCA4c.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
19g.11041441C>ACA404073727SMARCA4c.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
19g.11041441C=CA2322735029SMARCA4c.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=
19g.11041441C>GCA404073729SMARCA4c.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
19g.11041441C>TCA9204699SMARCA4c.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
19g.11041442G>ACA9204700SMARCA4c.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
19g.11041442G>CCA404073736SMARCA4c.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
19g.11041442G=CA2322735035SMARCA4c.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=
19g.11041442G>TCA404073733SMARCA4c.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
19g.11041443A>CCA404073740SMARCA4c.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
19g.11041443A>GCA404073743SMARCA4c.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
19g.11041443A>TCA404073746SMARCA4c.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
19g.11041444G>ACA10583756SMARCA4c.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
19g.11041444G>CCA404073751SMARCA4c.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
19g.11041444G=CA2322735037SMARCA4c.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=
19g.11041444G>TCA404073756SMARCA4c.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
19g.11041445A=CA2322735039SMARCA4c.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=
19g.11041445A>CCA404073763SMARCA4c.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
19g.11041445A>GCA404073762SMARCA4c.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
19g.11041445A>TCA404073760SMARCA4c.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
19g.11041446G>ACA404073767SMARCA4c.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
19g.11041446G>CCA404073775SMARCA4c.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
19g.11041446G=CA2322735043SMARCA4c.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=
19g.11041446G>TCA404073776SMARCA4c.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
19g.11041446_11041447delinsAACA348583SMARCA4c.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
19g.11041446_11041447delinsGCCA2322735041SMARCA4c.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
19g.11041447C>ACA404073778SMARCA4c.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
19g.11041447C=CA2322735045SMARCA4c.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=
19g.11041447C>GCA404073779SMARCA4c.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
19g.11041447C>TCA505743879SMARCA4c.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
19g.11041448A>CCA404073787SMARCA4c.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
19g.11041448A>GCA404073783SMARCA4c.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
19g.11041448A>TCA404073785SMARCA4c.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
19g.11041449A>CCA404073792SMARCA4c.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
19g.11041449A>GCA404073794SMARCA4c.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
19g.11041449A>TCA404073797SMARCA4c.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
19g.11041450G>ACA505743884SMARCA4c.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
19g.11041450G>CCA404073800SMARCA4c.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
19g.11041450G=CA2322735047SMARCA4c.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=
19g.11041450G>TCA404073802SMARCA4c.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
19g.11041451A>CCA404073807SMARCA4c.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
19g.11041451A>GCA404073805SMARCA4c.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
19g.11041451A>TCA404073804SMARCA4c.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
19g.11041451_11041454delinsAAGCCA2322735049SMARCA4c.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
19g.11041452A=CA2322735050SMARCA4c.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=
19g.11041452A>CCA404073809SMARCA4c.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
19g.11041452A>GCA404073810SMARCA4c.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
19g.11041452A>TCA404073811SMARCA4c.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
19g.11041454_11041456delCA9204701SMARCA4c.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
19g.11041453G>ACA505743886SMARCA4c.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
19g.11041453G>CCA404073812SMARCA4c.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
19g.11041453G=CA2322735052SMARCA4c.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=
19g.11041453G>TCA404073814SMARCA4c.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
19g.11041454C>ACA404073816SMARCA4c.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
19g.11041454C>GCA404073821SMARCA4c.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
19g.11041454C>TCA404073817SMARCA4c.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
19g.11041454_11041457delinsCAGACA2322735054SMARCA4c.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
19g.11041455A>CCA404073824SMARCA4c.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
19g.11041455A>GCA404073825SMARCA4c.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
19g.11041455A>TCA404073826SMARCA4c.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
19g.11041460_11041462delCA632115274SMARCA4c.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
19g.11041456G>ACA505743890SMARCA4c.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
19g.11041456G>CCA404073829SMARCA4c.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
19g.11041456G=CA2322735056SMARCA4c.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=
19g.11041456G>TCA404073830SMARCA4c.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
19g.11041457A>CCA404073833SMARCA4c.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
19g.11041457A>GCA404073835SMARCA4c.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
19g.11041457A>TCA404073837SMARCA4c.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
19g.11041458A=CA2322735058SMARCA4c.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=
19g.11041458A>CCA404073839SMARCA4c.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
19g.11041458A>GCA404073841SMARCA4c.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
19g.11041458A>TCA404073843SMARCA4c.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
19g.11041459G>ACA505743892SMARCA4c.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
19g.11041459G>CCA404073845SMARCA4c.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
19g.11041459G>TCA404073846SMARCA4c.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
19g.11041460A=CA2322735059SMARCA4c.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=
19g.11041460A>CCA9204702SMARCA4c.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
19g.11041460A>GCA404073847SMARCA4c.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
19g.11041460A>TCA404073848SMARCA4c.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
19g.11041461A>CCA404073850SMARCA4c.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
19g.11041461A>GCA404073852SMARCA4c.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
19g.11041461A>TCA404073855SMARCA4c.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
19g.11041462G>ACA505743893SMARCA4c.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
19g.11041462G>CCA404073864SMARCA4c.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
19g.11041462G>TCA404073865SMARCA4c.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
19g.11041463C>ACA404073867SMARCA4c.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
19g.11041463C=CA2322735061SMARCA4c.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=
19g.11041463C>GCA404073869SMARCA4c.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
19g.11041463C>TCA404073871SMARCA4c.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
19g.11041464G>ACA404073872SMARCA4c.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
19g.11041464G>CCA404073873SMARCA4c.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
19g.11041464G>TCA404073874SMARCA4c.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
19g.11041465C>ACA505743900SMARCA4c.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
19g.11041465C=CA2322735062SMARCA4c.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=
19g.11041465C>GCA505743897SMARCA4c.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
19g.11041465C>TCA9204703SMARCA4c.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
19g.11041466G>ACA404073876SMARCA4c.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
19g.11041466G>CCA404073880SMARCA4c.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
19g.11041466G>TCA404073879SMARCA4c.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
19g.11041467G>ACA404073883SMARCA4c.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
19g.11041467G>CCA404073886SMARCA4c.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
19g.11041467G=CA2322735065SMARCA4c.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=
19g.11041467G>TCA404073885SMARCA4c.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
19g.11041468G>ACA505743903SMARCA4c.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
19g.11041468G>CCA505743905SMARCA4c.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
19g.11041468G=CA2322735066SMARCA4c.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=
19g.11041468G>TCA505743906SMARCA4c.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
19g.11041469C>ACA505743907SMARCA4c.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
19g.11041469C=CA2322735068SMARCA4c.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=
19g.11041469C>GCA404073889SMARCA4c.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
19g.11041469C>TCA9204704SMARCA4c.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
19g.11041470G>ACA16615974SMARCA4c.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
19g.11041470G>CCA404073892SMARCA4c.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
19g.11041470G=CA2322735069SMARCA4c.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=
19g.11041470G>TCA404073894SMARCA4c.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
19g.11041471G>ACA505743910SMARCA4c.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
19g.11041471G>CCA505743912SMARCA4c.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
19g.11041471G=CA2322735071SMARCA4c.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=
19g.11041471G>TCA505743913SMARCA4c.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
19g.11041472C>ACA404073897SMARCA4c.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
19g.11041472C=CA2322735072SMARCA4c.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=
19g.11041472C>GCA404073898SMARCA4c.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
19g.11041472C>TCA404073899SMARCA4c.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
19g.11041473C>ACA404073902SMARCA4c.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
19g.11041473C=CA2322735074SMARCA4c.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=
19g.11041473C>GCA404073904SMARCA4c.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
19g.11041473C>TCA9204705SMARCA4c.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
19g.11041474G>ACA9204707SMARCA4c.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
19g.11041474G>CCA9204706SMARCA4c.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
19g.11041474G=CA2322735075SMARCA4c.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=
19g.11041474G>TCA505743916SMARCA4c.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
19g.11041475C>ACA404073909SMARCA4c.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
19g.11041475C>GCA404073913SMARCA4c.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
19g.11041475C>TCA404073911SMARCA4c.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
19g.11041476C>ACA404073915SMARCA4c.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
19g.11041476C>GCA404073916SMARCA4c.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
19g.11041476C>TCA404073918SMARCA4c.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
19g.11041477T>ACA505743920SMARCA4c.4437T>A (p.Pro1479=)
c.4341T>A (p.Pro1447=)
c.4242T>A (p.Pro1414=)
c.508T>A
c.468T>A (p.Pro156=)
c.282T>A (p.Pro94=)
n.2582T>A
c.2835T>A (p.Pro945=)
c.1798T>A
c.4338T>A (p.Pro1446=)
c.2898T>A (p.Pro966=)
c.4251T>A (p.Pro1417=)
c.2626T>A
c.4347T>A (p.Pro1449=)
c.2705T>A
n.834T>A
c.3764T>A
c.2978T>A
c.3013T>A
c.2995T>A
c.2829T>A (p.Pro943=)
c.890T>A
c.39T>A (p.Pro13=)
c.2252T>A (n.2252T>A)
c.2684T>A
c.2189T>A (n.2189T>A)
c.2641T>A
n.844T>A
c.2595T>A (p.Pro865=)
c.4443T>A (p.Pro1481=)
n.655T>A
n.2779T>A
n.2314T>A
n.2164T>A
c.4350T>A (p.Pro1450=)
n.4731T>A
 dbSNP
19g.11041477T>CCA505743921SMARCA4c.4437T>C (p.Pro1479=)
c.4341T>C (p.Pro1447=)
c.4242T>C (p.Pro1414=)
c.508T>C
c.468T>C (p.Pro156=)
c.282T>C (p.Pro94=)
n.2582T>C
c.2835T>C (p.Pro945=)
c.1798T>C
c.4338T>C (p.Pro1446=)
c.2898T>C (p.Pro966=)
c.4251T>C (p.Pro1417=)
c.2626T>C
c.4347T>C (p.Pro1449=)
c.2705T>C
n.834T>C
c.3764T>C
c.2978T>C
c.3013T>C
c.2995T>C
c.2829T>C (p.Pro943=)
c.890T>C
c.39T>C (p.Pro13=)
c.2252T>C (n.2252T>C)
c.2684T>C
c.2189T>C (n.2189T>C)
c.2641T>C
n.844T>C
c.2595T>C (p.Pro865=)
c.4443T>C (p.Pro1481=)
n.655T>C
n.2779T>C
n.2314T>C
n.2164T>C
c.4350T>C (p.Pro1450=)
n.4731T>C
 dbSNP
19g.11041477T>GCA505743922SMARCA4c.4437T>G (p.Pro1479=)
c.4341T>G (p.Pro1447=)
c.4242T>G (p.Pro1414=)
c.508T>G
c.468T>G (p.Pro156=)
c.282T>G (p.Pro94=)
n.2582T>G
c.2835T>G (p.Pro945=)
c.1798T>G
c.4338T>G (p.Pro1446=)
c.2898T>G (p.Pro966=)
c.4251T>G (p.Pro1417=)
c.2626T>G
c.4347T>G (p.Pro1449=)
c.2705T>G
n.834T>G
c.3764T>G
c.2978T>G
c.3013T>G
c.2995T>G
c.2829T>G (p.Pro943=)
c.890T>G
c.39T>G (p.Pro13=)
c.2252T>G (n.2252T>G)
c.2684T>G
c.2189T>G (n.2189T>G)
c.2641T>G
n.844T>G
c.2595T>G (p.Pro865=)
c.4443T>G (p.Pro1481=)
n.655T>G
n.2779T>G
n.2314T>G
n.2164T>G
c.4350T>G (p.Pro1450=)
n.4731T>G
 dbSNP
19g.11041478G>ACA9204708SMARCA4c.4438G>A (p.Ala1480Thr)
c.4342G>A (p.Ala1448Thr)
c.4243G>A (p.Ala1415Thr)
c.509G>A
c.469G>A (p.Ala157Thr)
c.283G>A (p.Ala95Thr)
n.2583G>A
c.2836G>A (p.Ala946Thr)
c.1799G>A
c.4339G>A (p.Ala1447Thr)
c.2899G>A (p.Ala967Thr)
c.4252G>A (p.Ala1418Thr)
c.2627G>A
c.4348G>A (p.Ala1450Thr)
c.2706G>A
n.835G>A
c.3765G>A
c.2979G>A
c.3014G>A
c.2996G>A
c.2830G>A (p.Ala944Thr)
c.891G>A
c.40G>A (p.Ala14Thr)
c.2253G>A (n.2253G>A)
c.2685G>A
c.2190G>A (n.2190G>A)
c.2642G>A
n.845G>A
c.2596G>A (p.Ala866Thr)
c.4444G>A (p.Ala1482Thr)
n.656G>A
n.2780G>A
n.2315G>A
n.2165G>A
c.4351G>A (p.Ala1451Thr)
n.4732G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.11041478G>CCA404073920SMARCA4c.4438G>C (p.Ala1480Pro)
c.4342G>C (p.Ala1448Pro)
c.4243G>C (p.Ala1415Pro)
c.509G>C
c.469G>C (p.Ala157Pro)
c.283G>C (p.Ala95Pro)
n.2583G>C
c.2836G>C (p.Ala946Pro)
c.1799G>C
c.4339G>C (p.Ala1447Pro)
c.2899G>C (p.Ala967Pro)
c.4252G>C (p.Ala1418Pro)
c.2627G>C
c.4348G>C (p.Ala1450Pro)
c.2706G>C
n.835G>C
c.3765G>C
c.2979G>C
c.3014G>C
c.2996G>C
c.2830G>C (p.Ala944Pro)
c.891G>C
c.40G>C (p.Ala14Pro)
c.2253G>C (n.2253G>C)
c.2685G>C
c.2190G>C (n.2190G>C)
c.2642G>C
n.845G>C
c.2596G>C (p.Ala866Pro)
c.4444G>C (p.Ala1482Pro)
n.656G>C
n.2780G>C
n.2315G>C
n.2165G>C
c.4351G>C (p.Ala1451Pro)
n.4732G>C
 ClinVar dbSNP
19g.11041478G=CA2322735077SMARCA4c.4438G= (p.Ala1480=)
c.4342G= (p.Ala1448=)
c.4243G= (p.Ala1415=)
c.509G=
c.469G= (p.Ala157=)
c.283G= (p.Ala95=)
n.2583G=
c.2836G= (p.Ala946=)
c.1799G=
c.4339G= (p.Ala1447=)
c.2899G= (p.Ala967=)
c.4252G= (p.Ala1418=)
c.2627G=
c.4348G= (p.Ala1450=)
c.2706G=
n.835G=
c.3765G=
c.2979G=
c.3014G=
c.2996G=
c.2830G= (p.Ala944=)
c.891G=
c.40G= (p.Ala14=)
c.2253G= (n.2253G=)
c.2685G=
c.2190G= (n.2190G=)
c.2642G=
n.845G=
c.2596G= (p.Ala866=)
c.4444G= (p.Ala1482=)
n.656G=
n.2780G=
n.2315G=
n.2165G=
c.4351G= (p.Ala1451=)
n.4732G=
19g.11041478G>TCA404073922SMARCA4c.4438G>T (p.Ala1480Ser)
c.4342G>T (p.Ala1448Ser)
c.4243G>T (p.Ala1415Ser)
c.509G>T
c.469G>T (p.Ala157Ser)
c.283G>T (p.Ala95Ser)
n.2583G>T
c.2836G>T (p.Ala946Ser)
c.1799G>T
c.4339G>T (p.Ala1447Ser)
c.2899G>T (p.Ala967Ser)
c.4252G>T (p.Ala1418Ser)
c.2627G>T
c.4348G>T (p.Ala1450Ser)
c.2706G>T
n.835G>T
c.3765G>T
c.2979G>T
c.3014G>T
c.2996G>T
c.2830G>T (p.Ala944Ser)
c.891G>T
c.40G>T (p.Ala14Ser)
c.2253G>T (n.2253G>T)
c.2685G>T
c.2190G>T (n.2190G>T)
c.2642G>T
n.845G>T
c.2596G>T (p.Ala866Ser)
c.4444G>T (p.Ala1482Ser)
n.656G>T
n.2780G>T
n.2315G>T
n.2165G>T
c.4351G>T (p.Ala1451Ser)
n.4732G>T
 dbSNP
19g.11041479C>ACA404073924SMARCA4c.4439C>A (p.Ala1480Asp)
c.4343C>A (p.Ala1448Asp)
c.4244C>A (p.Ala1415Asp)
c.510C>A
c.470C>A (p.Ala157Asp)
c.284C>A (p.Ala95Asp)
n.2584C>A
c.2837C>A (p.Ala946Asp)
c.1800C>A
c.4340C>A (p.Ala1447Asp)
c.2900C>A (p.Ala967Asp)
c.4253C>A (p.Ala1418Asp)
c.2628C>A
c.4349C>A (p.Ala1450Asp)
c.2707C>A
n.836C>A
c.3766C>A
c.2980C>A
c.3015C>A
c.2997C>A
c.2831C>A (p.Ala944Asp)
c.892C>A
c.41C>A (p.Ala14Asp)
c.2254C>A (n.2254C>A)
c.2686C>A
c.2191C>A (n.2191C>A)
c.2643C>A
n.846C>A
c.2597C>A (p.Ala866Asp)
c.4445C>A (p.Ala1482Asp)
n.657C>A
n.2781C>A
n.2316C>A
n.2166C>A
c.4352C>A (p.Ala1451Asp)
n.4733C>A
 dbSNP
19g.11041479C>GCA404073925SMARCA4c.4439C>G (p.Ala1480Gly)
c.4343C>G (p.Ala1448Gly)
c.4244C>G (p.Ala1415Gly)
c.510C>G
c.470C>G (p.Ala157Gly)
c.284C>G (p.Ala95Gly)
n.2584C>G
c.2837C>G (p.Ala946Gly)
c.1800C>G
c.4340C>G (p.Ala1447Gly)
c.2900C>G (p.Ala967Gly)
c.4253C>G (p.Ala1418Gly)
c.2628C>G
c.4349C>G (p.Ala1450Gly)
c.2707C>G
n.836C>G
c.3766C>G
c.2980C>G
c.3015C>G
c.2997C>G
c.2831C>G (p.Ala944Gly)
c.892C>G
c.41C>G (p.Ala14Gly)
c.2254C>G (n.2254C>G)
c.2686C>G
c.2191C>G (n.2191C>G)
c.2643C>G
n.846C>G
c.2597C>G (p.Ala866Gly)
c.4445C>G (p.Ala1482Gly)
n.657C>G
n.2781C>G
n.2316C>G
n.2166C>G
c.4352C>G (p.Ala1451Gly)
n.4733C>G
 dbSNP
19g.11041479C>TCA404073927SMARCA4c.4439C>T (p.Ala1480Val)
c.4343C>T (p.Ala1448Val)
c.4244C>T (p.Ala1415Val)
c.510C>T
c.470C>T (p.Ala157Val)
c.284C>T (p.Ala95Val)
n.2584C>T
c.2837C>T (p.Ala946Val)
c.1800C>T
c.4340C>T (p.Ala1447Val)
c.2900C>T (p.Ala967Val)
c.4253C>T (p.Ala1418Val)
c.2628C>T
c.4349C>T (p.Ala1450Val)
c.2707C>T
n.836C>T
c.3766C>T
c.2980C>T
c.3015C>T
c.2997C>T
c.2831C>T (p.Ala944Val)
c.892C>T
c.41C>T (p.Ala14Val)
c.2254C>T (n.2254C>T)
c.2686C>T
c.2191C>T (n.2191C>T)
c.2643C>T
n.846C>T
c.2597C>T (p.Ala866Val)
c.4445C>T (p.Ala1482Val)
n.657C>T
n.2781C>T
n.2316C>T
n.2166C>T
c.4352C>T (p.Ala1451Val)
n.4733C>T
 dbSNP COSMIC COSMIC
19g.11041480C>ACA505743923SMARCA4c.4440C>A (p.Ala1480=)
c.4344C>A (p.Ala1448=)
c.4245C>A (p.Ala1415=)
c.511C>A
c.471C>A (p.Ala157=)
c.285C>A (p.Ala95=)
n.2585C>A
c.2838C>A (p.Ala946=)
c.1801C>A
c.4341C>A (p.Ala1447=)
c.2901C>A (p.Ala967=)
c.4254C>A (p.Ala1418=)
c.2629C>A
c.4350C>A (p.Ala1450=)
c.2708C>A
n.837C>A
c.3767C>A
c.2981C>A
c.3016C>A
c.2998C>A
c.2832C>A (p.Ala944=)
c.893C>A
c.42C>A (p.Ala14=)
c.2255C>A (n.2255C>A)
c.2687C>A
c.2192C>A (n.2192C>A)
c.2644C>A
n.847C>A
c.2598C>A (p.Ala866=)
c.4446C>A (p.Ala1482=)
n.658C>A
n.2782C>A
n.2317C>A
n.2167C>A
c.4353C>A (p.Ala1451=)
n.4734C>A
 ClinVar dbSNP gnomAD v4
19g.11041480C=CA2322735080SMARCA4c.4440C= (p.Ala1480=)
c.4344C= (p.Ala1448=)
c.4245C= (p.Ala1415=)
c.511C=
c.471C= (p.Ala157=)
c.285C= (p.Ala95=)
n.2585C=
c.2838C= (p.Ala946=)
c.1801C=
c.4341C= (p.Ala1447=)
c.2901C= (p.Ala967=)
c.4254C= (p.Ala1418=)
c.2629C=
c.4350C= (p.Ala1450=)
c.2708C=
n.837C=
c.3767C=
c.2981C=
c.3016C=
c.2998C=
c.2832C= (p.Ala944=)
c.893C=
c.42C= (p.Ala14=)
c.2255C= (n.2255C=)
c.2687C=
c.2192C= (n.2192C=)
c.2644C=
n.847C=
c.2598C= (p.Ala866=)
c.4446C= (p.Ala1482=)
n.658C=
n.2782C=
n.2317C=
n.2167C=
c.4353C= (p.Ala1451=)
n.4734C=
19g.11041480C>GCA505743924SMARCA4c.4440C>G (p.Ala1480=)
c.4344C>G (p.Ala1448=)
c.4245C>G (p.Ala1415=)
c.511C>G
c.471C>G (p.Ala157=)
c.285C>G (p.Ala95=)
n.2585C>G
c.2838C>G (p.Ala946=)
c.1801C>G
c.4341C>G (p.Ala1447=)
c.2901C>G (p.Ala967=)
c.4254C>G (p.Ala1418=)
c.2629C>G
c.4350C>G (p.Ala1450=)
c.2708C>G
n.837C>G
c.3767C>G
c.2981C>G
c.3016C>G
c.2998C>G
c.2832C>G (p.Ala944=)
c.893C>G
c.42C>G (p.Ala14=)
c.2255C>G (n.2255C>G)
c.2687C>G
c.2192C>G (n.2192C>G)
c.2644C>G
n.847C>G
c.2598C>G (p.Ala866=)
c.4446C>G (p.Ala1482=)
n.658C>G
n.2782C>G
n.2317C>G
n.2167C>G
c.4353C>G (p.Ala1451=)
n.4734C>G
 ClinVar dbSNP
19g.11041480C>TCA9204709SMARCA4c.4440C>T (p.Ala1480=)
c.4344C>T (p.Ala1448=)
c.4245C>T (p.Ala1415=)
c.511C>T
c.471C>T (p.Ala157=)
c.285C>T (p.Ala95=)
n.2585C>T
c.2838C>T (p.Ala946=)
c.1801C>T
c.4341C>T (p.Ala1447=)
c.2901C>T (p.Ala967=)
c.4254C>T (p.Ala1418=)
c.2629C>T
c.4350C>T (p.Ala1450=)
c.2708C>T
n.837C>T
c.3767C>T
c.2981C>T
c.3016C>T
c.2998C>T
c.2832C>T (p.Ala944=)
c.893C>T
c.42C>T (p.Ala14=)
c.2255C>T (n.2255C>T)
c.2687C>T
c.2192C>T (n.2192C>T)
c.2644C>T
n.847C>T
c.2598C>T (p.Ala866=)
c.4446C>T (p.Ala1482=)
n.658C>T
n.2782C>T
n.2317C>T
n.2167C>T
c.4353C>T (p.Ala1451=)
n.4734C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11041481G>ACA404073934SMARCA4c.4441G>A (p.Glu1481Lys)
c.4345G>A (p.Glu1449Lys)
c.4246G>A (p.Glu1416Lys)
c.512G>A
c.472G>A (p.Glu158Lys)
c.286G>A (p.Glu96Lys)
n.2586G>A
c.2839G>A (p.Glu947Lys)
c.1802G>A
c.4342G>A (p.Glu1448Lys)
c.2902G>A (p.Glu968Lys)
c.4255G>A (p.Glu1419Lys)
c.2630G>A
c.4351G>A (p.Glu1451Lys)
c.2709G>A
n.838G>A
c.3768G>A
c.2982G>A
c.3017G>A
c.2999G>A
c.2833G>A (p.Glu945Lys)
c.894G>A
c.43G>A (p.Glu15Lys)
c.2256G>A (n.2256G>A)
c.2688G>A
c.2193G>A (n.2193G>A)
c.2645G>A
n.848G>A
c.2599G>A (p.Glu867Lys)
c.4447G>A (p.Glu1483Lys)
n.659G>A
n.2783G>A
n.2318G>A
n.2168G>A
c.4354G>A (p.Glu1452Lys)
n.4735G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.11041481G>CCA404073932SMARCA4c.4441G>C (p.Glu1481Gln)
c.4345G>C (p.Glu1449Gln)
c.4246G>C (p.Glu1416Gln)
c.512G>C
c.472G>C (p.Glu158Gln)
c.286G>C (p.Glu96Gln)
n.2586G>C
c.2839G>C (p.Glu947Gln)
c.1802G>C
c.4342G>C (p.Glu1448Gln)
c.2902G>C (p.Glu968Gln)
c.4255G>C (p.Glu1419Gln)
c.2630G>C
c.4351G>C (p.Glu1451Gln)
c.2709G>C
n.838G>C
c.3768G>C
c.2982G>C
c.3017G>C
c.2999G>C
c.2833G>C (p.Glu945Gln)
c.894G>C
c.43G>C (p.Glu15Gln)
c.2256G>C (n.2256G>C)
c.2688G>C
c.2193G>C (n.2193G>C)
c.2645G>C
n.848G>C
c.2599G>C (p.Glu867Gln)
c.4447G>C (p.Glu1483Gln)
n.659G>C
n.2783G>C
n.2318G>C
n.2168G>C
c.4354G>C (p.Glu1452Gln)
n.4735G>C
 dbSNP
19g.11041481G=CA2322735082SMARCA4c.4441G= (p.Glu1481=)
c.4345G= (p.Glu1449=)
c.4246G= (p.Glu1416=)
c.512G=
c.472G= (p.Glu158=)
c.286G= (p.Glu96=)
n.2586G=
c.2839G= (p.Glu947=)
c.1802G=
c.4342G= (p.Glu1448=)
c.2902G= (p.Glu968=)
c.4255G= (p.Glu1419=)
c.2630G=
c.4351G= (p.Glu1451=)
c.2709G=
n.838G=
c.3768G=
c.2982G=
c.3017G=
c.2999G=
c.2833G= (p.Glu945=)
c.894G=
c.43G= (p.Glu15=)
c.2256G= (n.2256G=)
c.2688G=
c.2193G= (n.2193G=)
c.2645G=
n.848G=
c.2599G= (p.Glu867=)
c.4447G= (p.Glu1483=)
n.659G=
n.2783G=
n.2318G=
n.2168G=
c.4354G= (p.Glu1452=)
n.4735G=
19g.11041481G>TCA404073930SMARCA4c.4441G>T (p.Glu1481Ter)
c.4345G>T (p.Glu1449Ter)
c.4246G>T (p.Glu1416Ter)
c.512G>T
c.472G>T (p.Glu158Ter)
c.286G>T (p.Glu96Ter)
n.2586G>T
c.2839G>T (p.Glu947Ter)
c.1802G>T
c.4342G>T (p.Glu1448Ter)
c.2902G>T (p.Glu968Ter)
c.4255G>T (p.Glu1419Ter)
c.2630G>T
c.4351G>T (p.Glu1451Ter)
c.2709G>T
n.838G>T
c.3768G>T
c.2982G>T
c.3017G>T
c.2999G>T
c.2833G>T (p.Glu945Ter)
c.894G>T
c.43G>T (p.Glu15Ter)
c.2256G>T (n.2256G>T)
c.2688G>T
c.2193G>T (n.2193G>T)
c.2645G>T
n.848G>T
c.2599G>T (p.Glu867Ter)
c.4447G>T (p.Glu1483Ter)
n.659G>T
n.2783G>T
n.2318G>T
n.2168G>T
c.4354G>T (p.Glu1452Ter)
n.4735G>T
 ClinVar dbSNP
19g.11041482A=CA2322735083SMARCA4c.4442A= (p.Glu1481=)
c.4346A= (p.Glu1449=)
c.4247A= (p.Glu1416=)
c.513A=
c.473A= (p.Glu158=)
c.287A= (p.Glu96=)
n.2587A=
c.2840A= (p.Glu947=)
c.1803A=
c.4343A= (p.Glu1448=)
c.2903A= (p.Glu968=)
c.4256A= (p.Glu1419=)
c.2631A=
c.4352A= (p.Glu1451=)
c.2710A=
n.839A=
c.3769A=
c.2983A=
c.3018A=
c.3000A=
c.2834A= (p.Glu945=)
c.895A=
c.44A= (p.Glu15=)
c.2257A= (n.2257A=)
c.2689A=
c.2194A= (n.2194A=)
c.2646A=
n.849A=
c.2600A= (p.Glu867=)
c.4448A= (p.Glu1483=)
n.660A=
n.2784A=
n.2319A=
n.2169A=
c.4355A= (p.Glu1452=)
n.4736A=
19g.11041482A>CCA404073936SMARCA4c.4442A>C (p.Glu1481Ala)
c.4346A>C (p.Glu1449Ala)
c.4247A>C (p.Glu1416Ala)
c.513A>C
c.473A>C (p.Glu158Ala)
c.287A>C (p.Glu96Ala)
n.2587A>C
c.2840A>C (p.Glu947Ala)
c.1803A>C
c.4343A>C (p.Glu1448Ala)
c.2903A>C (p.Glu968Ala)
c.4256A>C (p.Glu1419Ala)
c.2631A>C
c.4352A>C (p.Glu1451Ala)
c.2710A>C
n.839A>C
c.3769A>C
c.2983A>C
c.3018A>C
c.3000A>C
c.2834A>C (p.Glu945Ala)
c.895A>C
c.44A>C (p.Glu15Ala)
c.2257A>C (n.2257A>C)
c.2689A>C
c.2194A>C (n.2194A>C)
c.2646A>C
n.849A>C
c.2600A>C (p.Glu867Ala)
c.4448A>C (p.Glu1483Ala)
n.660A>C
n.2784A>C
n.2319A>C
n.2169A>C
c.4355A>C (p.Glu1452Ala)
n.4736A>C
19g.11041482A>GCA16615985SMARCA4c.4442A>G (p.Glu1481Gly)
c.4346A>G (p.Glu1449Gly)
c.4247A>G (p.Glu1416Gly)
c.513A>G
c.473A>G (p.Glu158Gly)
c.287A>G (p.Glu96Gly)
n.2587A>G
c.2840A>G (p.Glu947Gly)
c.1803A>G
c.4343A>G (p.Glu1448Gly)
c.2903A>G (p.Glu968Gly)
c.4256A>G (p.Glu1419Gly)
c.2631A>G
c.4352A>G (p.Glu1451Gly)
c.2710A>G
n.839A>G
c.3769A>G
c.2983A>G
c.3018A>G
c.3000A>G
c.2834A>G (p.Glu945Gly)
c.895A>G
c.44A>G (p.Glu15Gly)
c.2257A>G (n.2257A>G)
c.2689A>G
c.2194A>G (n.2194A>G)
c.2646A>G
n.849A>G
c.2600A>G (p.Glu867Gly)
c.4448A>G (p.Glu1483Gly)
n.660A>G
n.2784A>G
n.2319A>G
n.2169A>G
c.4355A>G (p.Glu1452Gly)
n.4736A>G
 ClinVar dbSNP
19g.11041482A>TCA404073938SMARCA4c.4442A>T (p.Glu1481Val)
c.4346A>T (p.Glu1449Val)
c.4247A>T (p.Glu1416Val)
c.513A>T
c.473A>T (p.Glu158Val)
c.287A>T (p.Glu96Val)
n.2587A>T
c.2840A>T (p.Glu947Val)
c.1803A>T
c.4343A>T (p.Glu1448Val)
c.2903A>T (p.Glu968Val)
c.4256A>T (p.Glu1419Val)
c.2631A>T
c.4352A>T (p.Glu1451Val)
c.2710A>T
n.839A>T
c.3769A>T
c.2983A>T
c.3018A>T
c.3000A>T
c.2834A>T (p.Glu945Val)
c.895A>T
c.44A>T (p.Glu15Val)
c.2257A>T (n.2257A>T)
c.2689A>T
c.2194A>T (n.2194A>T)
c.2646A>T
n.849A>T
c.2600A>T (p.Glu867Val)
c.4448A>T (p.Glu1483Val)
n.660A>T
n.2784A>T
n.2319A>T
n.2169A>T
c.4355A>T (p.Glu1452Val)
n.4736A>T
19g.11041483G>ACA505743926SMARCA4c.4443G>A (p.Glu1481=)
c.4347G>A (p.Glu1449=)
c.4248G>A (p.Glu1416=)
c.514G>A
c.474G>A (p.Glu158=)
c.288G>A (p.Glu96=)
n.2588G>A
c.2841G>A (p.Glu947=)
c.1804G>A
c.4344G>A (p.Glu1448=)
c.2904G>A (p.Glu968=)
c.4257G>A (p.Glu1419=)
c.2632G>A
c.4353G>A (p.Glu1451=)
c.2711G>A
n.840G>A
c.3770G>A
c.2984G>A
c.3019G>A
c.3001G>A
c.2835G>A (p.Glu945=)
c.896G>A
c.45G>A (p.Glu15=)
c.2258G>A (n.2258G>A)
c.2690G>A
c.2195G>A (n.2195G>A)
c.2647G>A
n.850G>A
c.2601G>A (p.Glu867=)
c.4449G>A (p.Glu1483=)
n.661G>A
n.2785G>A
n.2320G>A
n.2170G>A
c.4356G>A (p.Glu1452=)
n.4737G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.11041483G>CCA404073940SMARCA4c.4443G>C (p.Glu1481Asp)
c.4347G>C (p.Glu1449Asp)
c.4248G>C (p.Glu1416Asp)
c.514G>C
c.474G>C (p.Glu158Asp)
c.288G>C (p.Glu96Asp)
n.2588G>C
c.2841G>C (p.Glu947Asp)
c.1804G>C
c.4344G>C (p.Glu1448Asp)
c.2904G>C (p.Glu968Asp)
c.4257G>C (p.Glu1419Asp)
c.2632G>C
c.4353G>C (p.Glu1451Asp)
c.2711G>C
n.840G>C
c.3770G>C
c.2984G>C
c.3019G>C
c.3001G>C
c.2835G>C (p.Glu945Asp)
c.896G>C
c.45G>C (p.Glu15Asp)
c.2258G>C (n.2258G>C)
c.2690G>C
c.2195G>C (n.2195G>C)
c.2647G>C
n.850G>C
c.2601G>C (p.Glu867Asp)
c.4449G>C (p.Glu1483Asp)
n.661G>C
n.2785G>C
n.2320G>C
n.2170G>C
c.4356G>C (p.Glu1452Asp)
n.4737G>C
 dbSNP
19g.11041483G=CA2322735085SMARCA4c.4443G= (p.Glu1481=)
c.4347G= (p.Glu1449=)
c.4248G= (p.Glu1416=)
c.514G=
c.474G= (p.Glu158=)
c.288G= (p.Glu96=)
n.2588G=
c.2841G= (p.Glu947=)
c.1804G=
c.4344G= (p.Glu1448=)
c.2904G= (p.Glu968=)
c.4257G= (p.Glu1419=)
c.2632G=
c.4353G= (p.Glu1451=)
c.2711G=
n.840G=
c.3770G=
c.2984G=
c.3019G=
c.3001G=
c.2835G= (p.Glu945=)
c.896G=
c.45G= (p.Glu15=)
c.2258G= (n.2258G=)
c.2690G=
c.2195G= (n.2195G=)
c.2647G=
n.850G=
c.2601G= (p.Glu867=)
c.4449G= (p.Glu1483=)
n.661G=
n.2785G=
n.2320G=
n.2170G=
c.4356G= (p.Glu1452=)
n.4737G=
19g.11041483G>TCA404073941SMARCA4c.4443G>T (p.Glu1481Asp)
c.4347G>T (p.Glu1449Asp)
c.4248G>T (p.Glu1416Asp)
c.514G>T
c.474G>T (p.Glu158Asp)
c.288G>T (p.Glu96Asp)
n.2588G>T
c.2841G>T (p.Glu947Asp)
c.1804G>T
c.4344G>T (p.Glu1448Asp)
c.2904G>T (p.Glu968Asp)
c.4257G>T (p.Glu1419Asp)
c.2632G>T
c.4353G>T (p.Glu1451Asp)
c.2711G>T
n.840G>T
c.3770G>T
c.2984G>T
c.3019G>T
c.3001G>T
c.2835G>T (p.Glu945Asp)
c.896G>T
c.45G>T (p.Glu15Asp)
c.2258G>T (n.2258G>T)
c.2690G>T
c.2195G>T (n.2195G>T)
c.2647G>T
n.850G>T
c.2601G>T (p.Glu867Asp)
c.4449G>T (p.Glu1483Asp)
n.661G>T
n.2785G>T
n.2320G>T
n.2170G>T
c.4356G>T (p.Glu1452Asp)
n.4737G>T
19g.11041484A>CCA404073943SMARCA4c.4444A>C (p.Lys1482Gln)
c.4348A>C (p.Lys1450Gln)
c.4249A>C (p.Lys1417Gln)
c.515A>C
c.475A>C (p.Lys159Gln)
c.289A>C (p.Lys97Gln)
n.2589A>C
c.2842A>C (p.Lys948Gln)
c.1805A>C
c.4345A>C (p.Lys1449Gln)
c.2905A>C (p.Lys969Gln)
c.4258A>C (p.Lys1420Gln)
c.2633A>C
c.4354A>C (p.Lys1452Gln)
c.2712A>C
n.841A>C
c.3771A>C
c.2985A>C
c.3020A>C
c.3002A>C
c.2836A>C (p.Lys946Gln)
c.897A>C
c.46A>C (p.Lys16Gln)
c.2259A>C (n.2259A>C)
c.2691A>C
c.2196A>C (n.2196A>C)
c.2648A>C
n.851A>C
c.2602A>C (p.Lys868Gln)
c.4450A>C (p.Lys1484Gln)
n.662A>C
n.2786A>C
n.2321A>C
n.2171A>C
c.4357A>C (p.Lys1453Gln)
n.4738A>C
 dbSNP
19g.11041484A>GCA404073944SMARCA4c.4444A>G (p.Lys1482Glu)
c.4348A>G (p.Lys1450Glu)
c.4249A>G (p.Lys1417Glu)
c.515A>G
c.475A>G (p.Lys159Glu)
c.289A>G (p.Lys97Glu)
n.2589A>G
c.2842A>G (p.Lys948Glu)
c.1805A>G
c.4345A>G (p.Lys1449Glu)
c.2905A>G (p.Lys969Glu)
c.4258A>G (p.Lys1420Glu)
c.2633A>G
c.4354A>G (p.Lys1452Glu)
c.2712A>G
n.841A>G
c.3771A>G
c.2985A>G
c.3020A>G
c.3002A>G
c.2836A>G (p.Lys946Glu)
c.897A>G
c.46A>G (p.Lys16Glu)
c.2259A>G (n.2259A>G)
c.2691A>G
c.2196A>G (n.2196A>G)
c.2648A>G
n.851A>G
c.2602A>G (p.Lys868Glu)
c.4450A>G (p.Lys1484Glu)
n.662A>G
n.2786A>G
n.2321A>G
n.2171A>G
c.4357A>G (p.Lys1453Glu)
n.4738A>G
 ClinVar dbSNP
19g.11041484A>TCA404073945SMARCA4c.4444A>T (p.Lys1482Ter)
c.4348A>T (p.Lys1450Ter)
c.4249A>T (p.Lys1417Ter)
c.515A>T
c.475A>T (p.Lys159Ter)
c.289A>T (p.Lys97Ter)
n.2589A>T
c.2842A>T (p.Lys948Ter)
c.1805A>T
c.4345A>T (p.Lys1449Ter)
c.2905A>T (p.Lys969Ter)
c.4258A>T (p.Lys1420Ter)
c.2633A>T
c.4354A>T (p.Lys1452Ter)
c.2712A>T
n.841A>T
c.3771A>T
c.2985A>T
c.3020A>T
c.3002A>T
c.2836A>T (p.Lys946Ter)
c.897A>T
c.46A>T (p.Lys16Ter)
c.2259A>T (n.2259A>T)
c.2691A>T
c.2196A>T (n.2196A>T)
c.2648A>T
n.851A>T
c.2602A>T (p.Lys868Ter)
c.4450A>T (p.Lys1484Ter)
n.662A>T
n.2786A>T
n.2321A>T
n.2171A>T
c.4357A>T (p.Lys1453Ter)
n.4738A>T
 dbSNP
19g.11041485A>CCA404073946SMARCA4c.4445A>C (p.Lys1482Thr)
c.4349A>C (p.Lys1450Thr)
c.4250A>C (p.Lys1417Thr)
c.516A>C
c.476A>C (p.Lys159Thr)
c.290A>C (p.Lys97Thr)
n.2590A>C
c.2843A>C (p.Lys948Thr)
c.1806A>C
c.4346A>C (p.Lys1449Thr)
c.2906A>C (p.Lys969Thr)
c.4259A>C (p.Lys1420Thr)
c.2634A>C
c.4355A>C (p.Lys1452Thr)
c.2713A>C
n.842A>C
c.3772A>C
c.2986A>C
c.3021A>C
c.3003A>C
c.2837A>C (p.Lys946Thr)
c.898A>C
c.47A>C (p.Lys16Thr)
c.2260A>C (n.2260A>C)
c.2692A>C
c.2197A>C (n.2197A>C)
c.2649A>C
n.852A>C
c.2603A>C (p.Lys868Thr)
c.4451A>C (p.Lys1484Thr)
n.663A>C
n.2787A>C
n.2322A>C
n.2172A>C
c.4358A>C (p.Lys1453Thr)
n.4739A>C
 dbSNP gnomAD v4
19g.11041485A>GCA404073948SMARCA4c.4445A>G (p.Lys1482Arg)
c.4349A>G (p.Lys1450Arg)
c.4250A>G (p.Lys1417Arg)
c.516A>G
c.476A>G (p.Lys159Arg)
c.290A>G (p.Lys97Arg)
n.2590A>G
c.2843A>G (p.Lys948Arg)
c.1806A>G
c.4346A>G (p.Lys1449Arg)
c.2906A>G (p.Lys969Arg)
c.4259A>G (p.Lys1420Arg)
c.2634A>G
c.4355A>G (p.Lys1452Arg)
c.2713A>G
n.842A>G
c.3772A>G
c.2986A>G
c.3021A>G
c.3003A>G
c.2837A>G (p.Lys946Arg)
c.898A>G
c.47A>G (p.Lys16Arg)
c.2260A>G (n.2260A>G)
c.2692A>G
c.2197A>G (n.2197A>G)
c.2649A>G
n.852A>G
c.2603A>G (p.Lys868Arg)
c.4451A>G (p.Lys1484Arg)
n.663A>G
n.2787A>G
n.2322A>G
n.2172A>G
c.4358A>G (p.Lys1453Arg)
n.4739A>G
 dbSNP
19g.11041485A>TCA404073950SMARCA4c.4445A>T (p.Lys1482Ile)
c.4349A>T (p.Lys1450Ile)
c.4250A>T (p.Lys1417Ile)
c.516A>T
c.476A>T (p.Lys159Ile)
c.290A>T (p.Lys97Ile)
n.2590A>T
c.2843A>T (p.Lys948Ile)
c.1806A>T
c.4346A>T (p.Lys1449Ile)
c.2906A>T (p.Lys969Ile)
c.4259A>T (p.Lys1420Ile)
c.2634A>T
c.4355A>T (p.Lys1452Ile)
c.2713A>T
n.842A>T
c.3772A>T
c.2986A>T
c.3021A>T
c.3003A>T
c.2837A>T (p.Lys946Ile)
c.898A>T
c.47A>T (p.Lys16Ile)
c.2260A>T (n.2260A>T)
c.2692A>T
c.2197A>T (n.2197A>T)
c.2649A>T
n.852A>T
c.2603A>T (p.Lys868Ile)
c.4451A>T (p.Lys1484Ile)
n.663A>T
n.2787A>T
n.2322A>T
n.2172A>T
c.4358A>T (p.Lys1453Ile)
n.4739A>T
 dbSNP
19g.11041486A>CCA404073951SMARCA4c.4446A>C (p.Lys1482Asn)
c.4350A>C (p.Lys1450Asn)
c.4251A>C (p.Lys1417Asn)
c.517A>C
c.477A>C (p.Lys159Asn)
c.291A>C (p.Lys97Asn)
n.2591A>C
c.2844A>C (p.Lys948Asn)
c.1807A>C
c.4347A>C (p.Lys1449Asn)
c.2907A>C (p.Lys969Asn)
c.4260A>C (p.Lys1420Asn)
c.2635A>C
c.4356A>C (p.Lys1452Asn)
c.2714A>C
n.843A>C
c.3773A>C
c.2987A>C
c.3022A>C
c.3004A>C
c.2838A>C (p.Lys946Asn)
c.899A>C
c.48A>C (p.Lys16Asn)
c.2261A>C (n.2261A>C)
c.2693A>C
c.2198A>C (n.2198A>C)
c.2650A>C
n.853A>C
c.2604A>C (p.Lys868Asn)
c.4452A>C (p.Lys1484Asn)
n.664A>C
n.2788A>C
n.2323A>C
n.2173A>C
c.4359A>C (p.Lys1453Asn)
n.4740A>C
19g.11041486A>GCA505743928SMARCA4c.4446A>G (p.Lys1482=)
c.4350A>G (p.Lys1450=)
c.4251A>G (p.Lys1417=)
c.517A>G
c.477A>G (p.Lys159=)
c.291A>G (p.Lys97=)
n.2591A>G
c.2844A>G (p.Lys948=)
c.1807A>G
c.4347A>G (p.Lys1449=)
c.2907A>G (p.Lys969=)
c.4260A>G (p.Lys1420=)
c.2635A>G
c.4356A>G (p.Lys1452=)
c.2714A>G
n.843A>G
c.3773A>G
c.2987A>G
c.3022A>G
c.3004A>G
c.2838A>G (p.Lys946=)
c.899A>G
c.48A>G (p.Lys16=)
c.2261A>G (n.2261A>G)
c.2693A>G
c.2198A>G (n.2198A>G)
c.2650A>G
n.853A>G
c.2604A>G (p.Lys868=)
c.4452A>G (p.Lys1484=)
n.664A>G
n.2788A>G
n.2323A>G
n.2173A>G
c.4359A>G (p.Lys1453=)
n.4740A>G
19g.11041486A>TCA404073952SMARCA4c.4446A>T (p.Lys1482Asn)
c.4350A>T (p.Lys1450Asn)
c.4251A>T (p.Lys1417Asn)
c.517A>T
c.477A>T (p.Lys159Asn)
c.291A>T (p.Lys97Asn)
n.2591A>T
c.2844A>T (p.Lys948Asn)
c.1807A>T
c.4347A>T (p.Lys1449Asn)
c.2907A>T (p.Lys969Asn)
c.4260A>T (p.Lys1420Asn)
c.2635A>T
c.4356A>T (p.Lys1452Asn)
c.2714A>T
n.843A>T
c.3773A>T
c.2987A>T
c.3022A>T
c.3004A>T
c.2838A>T (p.Lys946Asn)
c.899A>T
c.48A>T (p.Lys16Asn)
c.2261A>T (n.2261A>T)
c.2693A>T
c.2198A>T (n.2198A>T)
c.2650A>T
n.853A>T
c.2604A>T (p.Lys868Asn)
c.4452A>T (p.Lys1484Asn)
n.664A>T
n.2788A>T
n.2323A>T
n.2173A>T
c.4359A>T (p.Lys1453Asn)
n.4740A>T
 dbSNP
19g.11041487C>ACA404073957SMARCA4c.4447C>A (p.Leu1483Ile)
c.4351C>A (p.Leu1451Ile)
c.4252C>A (p.Leu1418Ile)
c.518C>A
c.478C>A (p.Leu160Ile)
c.292C>A (p.Leu98Ile)
n.2592C>A
c.2845C>A (p.Leu949Ile)
c.1808C>A
c.4348C>A (p.Leu1450Ile)
c.2908C>A (p.Leu970Ile)
c.4261C>A (p.Leu1421Ile)
c.2636C>A
c.4357C>A (p.Leu1453Ile)
c.2715C>A
n.844C>A
c.3774C>A
c.2988C>A
c.3023C>A
c.3005C>A
c.2839C>A (p.Leu947Ile)
c.900C>A
c.49C>A (p.Leu17Ile)
c.2262C>A (n.2262C>A)
c.2694C>A
c.2199C>A (n.2199C>A)
c.2651C>A
n.854C>A
c.2605C>A (p.Leu869Ile)
c.4453C>A (p.Leu1485Ile)
n.665C>A
n.2789C>A
n.2324C>A
n.2174C>A
c.4360C>A (p.Leu1454Ile)
n.4741C>A
 dbSNP
19g.11041487C=CA2322735087SMARCA4c.4447C= (p.Leu1483=)
c.4351C= (p.Leu1451=)
c.4252C= (p.Leu1418=)
c.518C=
c.478C= (p.Leu160=)
c.292C= (p.Leu98=)
n.2592C=
c.2845C= (p.Leu949=)
c.1808C=
c.4348C= (p.Leu1450=)
c.2908C= (p.Leu970=)
c.4261C= (p.Leu1421=)
c.2636C=
c.4357C= (p.Leu1453=)
c.2715C=
n.844C=
c.3774C=
c.2988C=
c.3023C=
c.3005C=
c.2839C= (p.Leu947=)
c.900C=
c.49C= (p.Leu17=)
c.2262C= (n.2262C=)
c.2694C=
c.2199C= (n.2199C=)
c.2651C=
n.854C=
c.2605C= (p.Leu869=)
c.4453C= (p.Leu1485=)
n.665C=
n.2789C=
n.2324C=
n.2174C=
c.4360C= (p.Leu1454=)
n.4741C=
19g.11041487C>GCA404073954SMARCA4c.4447C>G (p.Leu1483Val)
c.4351C>G (p.Leu1451Val)
c.4252C>G (p.Leu1418Val)
c.518C>G
c.478C>G (p.Leu160Val)
c.292C>G (p.Leu98Val)
n.2592C>G
c.2845C>G (p.Leu949Val)
c.1808C>G
c.4348C>G (p.Leu1450Val)
c.2908C>G (p.Leu970Val)
c.4261C>G (p.Leu1421Val)
c.2636C>G
c.4357C>G (p.Leu1453Val)
c.2715C>G
n.844C>G
c.3774C>G
c.2988C>G
c.3023C>G
c.3005C>G
c.2839C>G (p.Leu947Val)
c.900C>G
c.49C>G (p.Leu17Val)
c.2262C>G (n.2262C>G)
c.2694C>G
c.2199C>G (n.2199C>G)
c.2651C>G
n.854C>G
c.2605C>G (p.Leu869Val)
c.4453C>G (p.Leu1485Val)
n.665C>G
n.2789C>G
n.2324C>G
n.2174C>G
c.4360C>G (p.Leu1454Val)
n.4741C>G
 ClinVar dbSNP
19g.11041487C>TCA404073956SMARCA4c.4447C>T (p.Leu1483Phe)
c.4351C>T (p.Leu1451Phe)
c.4252C>T (p.Leu1418Phe)
c.518C>T
c.478C>T (p.Leu160Phe)
c.292C>T (p.Leu98Phe)
n.2592C>T
c.2845C>T (p.Leu949Phe)
c.1808C>T
c.4348C>T (p.Leu1450Phe)
c.2908C>T (p.Leu970Phe)
c.4261C>T (p.Leu1421Phe)
c.2636C>T
c.4357C>T (p.Leu1453Phe)
c.2715C>T
n.844C>T
c.3774C>T
c.2988C>T
c.3023C>T
c.3005C>T
c.2839C>T (p.Leu947Phe)
c.900C>T
c.49C>T (p.Leu17Phe)
c.2262C>T (n.2262C>T)
c.2694C>T
c.2199C>T (n.2199C>T)
c.2651C>T
n.854C>T
c.2605C>T (p.Leu869Phe)
c.4453C>T (p.Leu1485Phe)
n.665C>T
n.2789C>T
n.2324C>T
n.2174C>T
c.4360C>T (p.Leu1454Phe)
n.4741C>T
 dbSNP COSMIC COSMIC
19g.11041488T>ACA404073960SMARCA4c.4448T>A (p.Leu1483His)
c.4352T>A (p.Leu1451His)
c.4253T>A (p.Leu1418His)
c.519T>A
c.479T>A (p.Leu160His)
c.293T>A (p.Leu98His)
n.2593T>A
c.2846T>A (p.Leu949His)
c.1809T>A
c.4349T>A (p.Leu1450His)
c.2909T>A (p.Leu970His)
c.4262T>A (p.Leu1421His)
c.2637T>A
c.4358T>A (p.Leu1453His)
c.2716T>A
n.845T>A
c.3775T>A
c.2989T>A
c.3024T>A
c.3006T>A
c.2840T>A (p.Leu947His)
c.901T>A
c.50T>A (p.Leu17His)
c.2263T>A (n.2263T>A)
c.2695T>A
c.2200T>A (n.2200T>A)
c.2652T>A
n.855T>A
c.2606T>A (p.Leu869His)
c.4454T>A (p.Leu1485His)
n.666T>A
n.2790T>A
n.2325T>A
n.2175T>A
c.4361T>A (p.Leu1454His)
n.4742T>A
 dbSNP
19g.11041488T>CCA404073962SMARCA4c.4448T>C (p.Leu1483Pro)
c.4352T>C (p.Leu1451Pro)
c.4253T>C (p.Leu1418Pro)
c.519T>C
c.479T>C (p.Leu160Pro)
c.293T>C (p.Leu98Pro)
n.2593T>C
c.2846T>C (p.Leu949Pro)
c.1809T>C
c.4349T>C (p.Leu1450Pro)
c.2909T>C (p.Leu970Pro)
c.4262T>C (p.Leu1421Pro)
c.2637T>C
c.4358T>C (p.Leu1453Pro)
c.2716T>C
n.845T>C
c.3775T>C
c.2989T>C
c.3024T>C
c.3006T>C
c.2840T>C (p.Leu947Pro)
c.901T>C
c.50T>C (p.Leu17Pro)
c.2263T>C (n.2263T>C)
c.2695T>C
c.2200T>C (n.2200T>C)
c.2652T>C
n.855T>C
c.2606T>C (p.Leu869Pro)
c.4454T>C (p.Leu1485Pro)
n.666T>C
n.2790T>C
n.2325T>C
n.2175T>C
c.4361T>C (p.Leu1454Pro)
n.4742T>C
 ClinVar dbSNP
19g.11041488T>GCA404073963SMARCA4c.4448T>G (p.Leu1483Arg)
c.4352T>G (p.Leu1451Arg)
c.4253T>G (p.Leu1418Arg)
c.519T>G
c.479T>G (p.Leu160Arg)
c.293T>G (p.Leu98Arg)
n.2593T>G
c.2846T>G (p.Leu949Arg)
c.1809T>G
c.4349T>G (p.Leu1450Arg)
c.2909T>G (p.Leu970Arg)
c.4262T>G (p.Leu1421Arg)
c.2637T>G
c.4358T>G (p.Leu1453Arg)
c.2716T>G
n.845T>G
c.3775T>G
c.2989T>G
c.3024T>G
c.3006T>G
c.2840T>G (p.Leu947Arg)
c.901T>G
c.50T>G (p.Leu17Arg)
c.2263T>G (n.2263T>G)
c.2695T>G
c.2200T>G (n.2200T>G)
c.2652T>G
n.855T>G
c.2606T>G (p.Leu869Arg)
c.4454T>G (p.Leu1485Arg)
n.666T>G
n.2790T>G
n.2325T>G
n.2175T>G
c.4361T>G (p.Leu1454Arg)
n.4742T>G
19g.11041488T=CA2322735089SMARCA4c.4448T= (p.Leu1483=)
c.4352T= (p.Leu1451=)
c.4253T= (p.Leu1418=)
c.519T=
c.479T= (p.Leu160=)
c.293T= (p.Leu98=)
n.2593T=
c.2846T= (p.Leu949=)
c.1809T=
c.4349T= (p.Leu1450=)
c.2909T= (p.Leu970=)
c.4262T= (p.Leu1421=)
c.2637T=
c.4358T= (p.Leu1453=)
c.2716T=
n.845T=
c.3775T=
c.2989T=
c.3024T=
c.3006T=
c.2840T= (p.Leu947=)
c.901T=
c.50T= (p.Leu17=)
c.2263T= (n.2263T=)
c.2695T=
c.2200T= (n.2200T=)
c.2652T=
n.855T=
c.2606T= (p.Leu869=)
c.4454T= (p.Leu1485=)
n.666T=
n.2790T=
n.2325T=
n.2175T=
c.4361T= (p.Leu1454=)
n.4742T=
19g.11041489C>ACA505743930SMARCA4c.4449C>A (p.Leu1483=)
c.4353C>A (p.Leu1451=)
c.4254C>A (p.Leu1418=)
c.520C>A
c.480C>A (p.Leu160=)
c.294C>A (p.Leu98=)
n.2594C>A
c.2847C>A (p.Leu949=)
c.1810C>A
c.4350C>A (p.Leu1450=)
c.2910C>A (p.Leu970=)
c.4263C>A (p.Leu1421=)
c.2638C>A
c.4359C>A (p.Leu1453=)
c.2717C>A
n.846C>A
c.3776C>A
c.2990C>A
c.3025C>A
c.3007C>A
c.2841C>A (p.Leu947=)
c.902C>A
c.51C>A (p.Leu17=)
c.2264C>A (n.2264C>A)
c.2696C>A
c.2201C>A (n.2201C>A)
c.2653C>A
n.856C>A
c.2607C>A (p.Leu869=)
c.4455C>A (p.Leu1485=)
n.667C>A
n.2791C>A
n.2326C>A
n.2176C>A
c.4362C>A (p.Leu1454=)
n.4743C>A
 dbSNP
19g.11041489C>GCA505743931SMARCA4c.4449C>G (p.Leu1483=)
c.4353C>G (p.Leu1451=)
c.4254C>G (p.Leu1418=)
c.520C>G
c.480C>G (p.Leu160=)
c.294C>G (p.Leu98=)
n.2594C>G
c.2847C>G (p.Leu949=)
c.1810C>G
c.4350C>G (p.Leu1450=)
c.2910C>G (p.Leu970=)
c.4263C>G (p.Leu1421=)
c.2638C>G
c.4359C>G (p.Leu1453=)
c.2717C>G
n.846C>G
c.3776C>G
c.2990C>G
c.3025C>G
c.3007C>G
c.2841C>G (p.Leu947=)
c.902C>G
c.51C>G (p.Leu17=)
c.2264C>G (n.2264C>G)
c.2696C>G
c.2201C>G (n.2201C>G)
c.2653C>G
n.856C>G
c.2607C>G (p.Leu869=)
c.4455C>G (p.Leu1485=)
n.667C>G
n.2791C>G
n.2326C>G
n.2176C>G
c.4362C>G (p.Leu1454=)
n.4743C>G
 dbSNP
19g.11041489C>TCA505743932SMARCA4c.4449C>T (p.Leu1483=)
c.4353C>T (p.Leu1451=)
c.4254C>T (p.Leu1418=)
c.520C>T
c.480C>T (p.Leu160=)
c.294C>T (p.Leu98=)
n.2594C>T
c.2847C>T (p.Leu949=)
c.1810C>T
c.4350C>T (p.Leu1450=)
c.2910C>T (p.Leu970=)
c.4263C>T (p.Leu1421=)
c.2638C>T
c.4359C>T (p.Leu1453=)
c.2717C>T
n.846C>T
c.3776C>T
c.2990C>T
c.3025C>T
c.3007C>T
c.2841C>T (p.Leu947=)
c.902C>T
c.51C>T (p.Leu17=)
c.2264C>T (n.2264C>T)
c.2696C>T
c.2201C>T (n.2201C>T)
c.2653C>T
n.856C>T
c.2607C>T (p.Leu869=)
c.4455C>T (p.Leu1485=)
n.667C>T
n.2791C>T
n.2326C>T
n.2176C>T
c.4362C>T (p.Leu1454=)
n.4743C>T
 dbSNP
19g.11041490T>ACA404073966SMARCA4c.4450T>A (p.Ser1484Thr)
c.4354T>A (p.Ser1452Thr)
c.4255T>A (p.Ser1419Thr)
c.521T>A
c.481T>A (p.Ser161Thr)
c.295T>A (p.Ser99Thr)
n.2595T>A
c.2848T>A (p.Ser950Thr)
c.1811T>A
c.4351T>A (p.Ser1451Thr)
c.2911T>A (p.Ser971Thr)
c.4264T>A (p.Ser1422Thr)
c.2639T>A
c.4360T>A (p.Ser1454Thr)
c.2718T>A
n.847T>A
c.3777T>A
c.2991T>A
c.3026T>A
c.3008T>A
c.2842T>A (p.Ser948Thr)
c.903T>A
c.52T>A (p.Ser18Thr)
c.2265T>A (n.2265T>A)
c.2697T>A
c.2202T>A (n.2202T>A)
c.2654T>A
n.857T>A
c.2608T>A (p.Ser870Thr)
c.4456T>A (p.Ser1486Thr)
n.668T>A
n.2792T>A
n.2327T>A
n.2177T>A
c.4363T>A (p.Ser1455Thr)
n.4744T>A
 dbSNP gnomAD v4
19g.11041490T>CCA404073967SMARCA4c.4450T>C (p.Ser1484Pro)
c.4354T>C (p.Ser1452Pro)
c.4255T>C (p.Ser1419Pro)
c.521T>C
c.481T>C (p.Ser161Pro)
c.295T>C (p.Ser99Pro)
n.2595T>C
c.2848T>C (p.Ser950Pro)
c.1811T>C
c.4351T>C (p.Ser1451Pro)
c.2911T>C (p.Ser971Pro)
c.4264T>C (p.Ser1422Pro)
c.2639T>C
c.4360T>C (p.Ser1454Pro)
c.2718T>C
n.847T>C
c.3777T>C
c.2991T>C
c.3026T>C
c.3008T>C
c.2842T>C (p.Ser948Pro)
c.903T>C
c.52T>C (p.Ser18Pro)
c.2265T>C (n.2265T>C)
c.2697T>C
c.2202T>C (n.2202T>C)
c.2654T>C
n.857T>C
c.2608T>C (p.Ser870Pro)
c.4456T>C (p.Ser1486Pro)
n.668T>C
n.2792T>C
n.2327T>C
n.2177T>C
c.4363T>C (p.Ser1455Pro)
n.4744T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.11041490T>GCA404073968SMARCA4c.4450T>G (p.Ser1484Ala)
c.4354T>G (p.Ser1452Ala)
c.4255T>G (p.Ser1419Ala)
c.521T>G
c.481T>G (p.Ser161Ala)
c.295T>G (p.Ser99Ala)
n.2595T>G
c.2848T>G (p.Ser950Ala)
c.1811T>G
c.4351T>G (p.Ser1451Ala)
c.2911T>G (p.Ser971Ala)
c.4264T>G (p.Ser1422Ala)
c.2639T>G
c.4360T>G (p.Ser1454Ala)
c.2718T>G
n.847T>G
c.3777T>G
c.2991T>G
c.3026T>G
c.3008T>G
c.2842T>G (p.Ser948Ala)
c.903T>G
c.52T>G (p.Ser18Ala)
c.2265T>G (n.2265T>G)
c.2697T>G
c.2202T>G (n.2202T>G)
c.2654T>G
n.857T>G
c.2608T>G (p.Ser870Ala)
c.4456T>G (p.Ser1486Ala)
n.668T>G
n.2792T>G
n.2327T>G
n.2177T>G
c.4363T>G (p.Ser1455Ala)
n.4744T>G
19g.11041490T=CA2322735090SMARCA4c.4450T= (p.Ser1484=)
c.4354T= (p.Ser1452=)
c.4255T= (p.Ser1419=)
c.521T=
c.481T= (p.Ser161=)
c.295T= (p.Ser99=)
n.2595T=
c.2848T= (p.Ser950=)
c.1811T=
c.4351T= (p.Ser1451=)
c.2911T= (p.Ser971=)
c.4264T= (p.Ser1422=)
c.2639T=
c.4360T= (p.Ser1454=)
c.2718T=
n.847T=
c.3777T=
c.2991T=
c.3026T=
c.3008T=
c.2842T= (p.Ser948=)
c.903T=
c.52T= (p.Ser18=)
c.2265T= (n.2265T=)
c.2697T=
c.2202T= (n.2202T=)
c.2654T=
n.857T=
c.2608T= (p.Ser870=)
c.4456T= (p.Ser1486=)
n.668T=
n.2792T=
n.2327T=
n.2177T=
c.4363T= (p.Ser1455=)
n.4744T=
19g.11041491C>ACA404073971SMARCA4c.4451C>A (p.Ser1484Tyr)
c.4355C>A (p.Ser1452Tyr)
c.4256C>A (p.Ser1419Tyr)
c.522C>A
c.482C>A (p.Ser161Tyr)
c.296C>A (p.Ser99Tyr)
n.2596C>A
c.2849C>A (p.Ser950Tyr)
c.1812C>A
c.4352C>A (p.Ser1451Tyr)
c.2912C>A (p.Ser971Tyr)
c.4265C>A (p.Ser1422Tyr)
c.2640C>A
c.4361C>A (p.Ser1454Tyr)
c.2719C>A
n.848C>A
c.3778C>A
c.2992C>A
c.3027C>A
c.3009C>A
c.2843C>A (p.Ser948Tyr)
c.904C>A
c.53C>A (p.Ser18Tyr)
c.2266C>A (n.2266C>A)
c.2698C>A
c.2203C>A (n.2203C>A)
c.2655C>A
n.858C>A
c.2609C>A (p.Ser870Tyr)
c.4457C>A (p.Ser1486Tyr)
n.669C>A
n.2793C>A
n.2328C>A
n.2178C>A
c.4364C>A (p.Ser1455Tyr)
n.4745C>A
 dbSNP
19g.11041491C>GCA404073972SMARCA4c.4451C>G (p.Ser1484Cys)
c.4355C>G (p.Ser1452Cys)
c.4256C>G (p.Ser1419Cys)
c.522C>G
c.482C>G (p.Ser161Cys)
c.296C>G (p.Ser99Cys)
n.2596C>G
c.2849C>G (p.Ser950Cys)
c.1812C>G
c.4352C>G (p.Ser1451Cys)
c.2912C>G (p.Ser971Cys)
c.4265C>G (p.Ser1422Cys)
c.2640C>G
c.4361C>G (p.Ser1454Cys)
c.2719C>G
n.848C>G
c.3778C>G
c.2992C>G
c.3027C>G
c.3009C>G
c.2843C>G (p.Ser948Cys)
c.904C>G
c.53C>G (p.Ser18Cys)
c.2266C>G (n.2266C>G)
c.2698C>G
c.2203C>G (n.2203C>G)
c.2655C>G
n.858C>G
c.2609C>G (p.Ser870Cys)
c.4457C>G (p.Ser1486Cys)
n.669C>G
n.2793C>G
n.2328C>G
n.2178C>G
c.4364C>G (p.Ser1455Cys)
n.4745C>G
 dbSNP
19g.11041491C>TCA404073974SMARCA4c.4451C>T (p.Ser1484Phe)
c.4355C>T (p.Ser1452Phe)
c.4256C>T (p.Ser1419Phe)
c.522C>T
c.482C>T (p.Ser161Phe)
c.296C>T (p.Ser99Phe)
n.2596C>T
c.2849C>T (p.Ser950Phe)
c.1812C>T
c.4352C>T (p.Ser1451Phe)
c.2912C>T (p.Ser971Phe)
c.4265C>T (p.Ser1422Phe)
c.2640C>T
c.4361C>T (p.Ser1454Phe)
c.2719C>T
n.848C>T
c.3778C>T
c.2992C>T
c.3027C>T
c.3009C>T
c.2843C>T (p.Ser948Phe)
c.904C>T
c.53C>T (p.Ser18Phe)
c.2266C>T (n.2266C>T)
c.2698C>T
c.2203C>T (n.2203C>T)
c.2655C>T
n.858C>T
c.2609C>T (p.Ser870Phe)
c.4457C>T (p.Ser1486Phe)
n.669C>T
n.2793C>T
n.2328C>T
n.2178C>T
c.4364C>T (p.Ser1455Phe)
n.4745C>T
 ClinVar dbSNP
19g.11041492C>ACA505743933SMARCA4c.4452C>A (p.Ser1484=)
c.4356C>A (p.Ser1452=)
c.4257C>A (p.Ser1419=)
c.523C>A
c.483C>A (p.Ser161=)
c.297C>A (p.Ser99=)
n.2597C>A
c.2850C>A (p.Ser950=)
c.1813C>A
c.4353C>A (p.Ser1451=)
c.2913C>A (p.Ser971=)
c.4266C>A (p.Ser1422=)
c.2641C>A
c.4362C>A (p.Ser1454=)
c.2720C>A
n.849C>A
c.3779C>A
c.2993C>A
c.3028C>A
c.3010C>A
c.2844C>A (p.Ser948=)
c.905C>A
c.54C>A (p.Ser18=)
c.2267C>A (n.2267C>A)
c.2699C>A
c.2204C>A (n.2204C>A)
c.2656C>A
n.859C>A
c.2610C>A (p.Ser870=)
c.4458C>A (p.Ser1486=)
n.670C>A
n.2794C>A
n.2329C>A
n.2179C>A
c.4365C>A (p.Ser1455=)
n.4746C>A
 dbSNP
19g.11041492C>GCA505743934SMARCA4c.4452C>G (p.Ser1484=)
c.4356C>G (p.Ser1452=)
c.4257C>G (p.Ser1419=)
c.523C>G
c.483C>G (p.Ser161=)
c.297C>G (p.Ser99=)
n.2597C>G
c.2850C>G (p.Ser950=)
c.1813C>G
c.4353C>G (p.Ser1451=)
c.2913C>G (p.Ser971=)
c.4266C>G (p.Ser1422=)
c.2641C>G
c.4362C>G (p.Ser1454=)
c.2720C>G
n.849C>G
c.3779C>G
c.2993C>G
c.3028C>G
c.3010C>G
c.2844C>G (p.Ser948=)
c.905C>G
c.54C>G (p.Ser18=)
c.2267C>G (n.2267C>G)
c.2699C>G
c.2204C>G (n.2204C>G)
c.2656C>G
n.859C>G
c.2610C>G (p.Ser870=)
c.4458C>G (p.Ser1486=)
n.670C>G
n.2794C>G
n.2329C>G
n.2179C>G
c.4365C>G (p.Ser1455=)
n.4746C>G
 dbSNP
19g.11041492C>TCA505743936SMARCA4c.4452C>T (p.Ser1484=)
c.4356C>T (p.Ser1452=)
c.4257C>T (p.Ser1419=)
c.523C>T
c.483C>T (p.Ser161=)
c.297C>T (p.Ser99=)
n.2597C>T
c.2850C>T (p.Ser950=)
c.1813C>T
c.4353C>T (p.Ser1451=)
c.2913C>T (p.Ser971=)
c.4266C>T (p.Ser1422=)
c.2641C>T
c.4362C>T (p.Ser1454=)
c.2720C>T
n.849C>T
c.3779C>T
c.2993C>T
c.3028C>T
c.3010C>T
c.2844C>T (p.Ser948=)
c.905C>T
c.54C>T (p.Ser18=)
c.2267C>T (n.2267C>T)
c.2699C>T
c.2204C>T (n.2204C>T)
c.2656C>T
n.859C>T
c.2610C>T (p.Ser870=)
c.4458C>T (p.Ser1486=)
n.670C>T
n.2794C>T
n.2329C>T
n.2179C>T
c.4365C>T (p.Ser1455=)
n.4746C>T
 dbSNP
19g.11041493C>ACA404073976SMARCA4c.4453C>A (p.Pro1485Thr)
c.4357C>A (p.Pro1453Thr)
c.4258C>A (p.Pro1420Thr)
c.524C>A
c.484C>A (p.Pro162Thr)
c.298C>A (p.Pro100Thr)
n.2598C>A
c.2851C>A (p.Pro951Thr)
c.1814C>A
c.4354C>A (p.Pro1452Thr)
c.2914C>A (p.Pro972Thr)
c.4267C>A (p.Pro1423Thr)
c.2642C>A
c.4363C>A (p.Pro1455Thr)
c.2721C>A
n.850C>A
c.3780C>A
c.2994C>A
c.3029C>A
c.3011C>A
c.2845C>A (p.Pro949Thr)
c.906C>A
c.55C>A (p.Pro19Thr)
c.2268C>A (n.2268C>A)
c.2700C>A
c.2205C>A (n.2205C>A)
c.2657C>A
n.860C>A
c.2611C>A (p.Pro871Thr)
c.4459C>A (p.Pro1487Thr)
n.671C>A
n.2795C>A
n.2330C>A
n.2180C>A
c.4366C>A (p.Pro1456Thr)
n.4747C>A
 dbSNP
19g.11041493C>GCA404073978SMARCA4c.4453C>G (p.Pro1485Ala)
c.4357C>G (p.Pro1453Ala)
c.4258C>G (p.Pro1420Ala)
c.524C>G
c.484C>G (p.Pro162Ala)
c.298C>G (p.Pro100Ala)
n.2598C>G
c.2851C>G (p.Pro951Ala)
c.1814C>G
c.4354C>G (p.Pro1452Ala)
c.2914C>G (p.Pro972Ala)
c.4267C>G (p.Pro1423Ala)
c.2642C>G
c.4363C>G (p.Pro1455Ala)
c.2721C>G
n.850C>G
c.3780C>G
c.2994C>G
c.3029C>G
c.3011C>G
c.2845C>G (p.Pro949Ala)
c.906C>G
c.55C>G (p.Pro19Ala)
c.2268C>G (n.2268C>G)
c.2700C>G
c.2205C>G (n.2205C>G)
c.2657C>G
n.860C>G
c.2611C>G (p.Pro871Ala)
c.4459C>G (p.Pro1487Ala)
n.671C>G
n.2795C>G
n.2330C>G
n.2180C>G
c.4366C>G (p.Pro1456Ala)
n.4747C>G
 dbSNP
19g.11041493C>TCA404073979SMARCA4c.4453C>T (p.Pro1485Ser)
c.4357C>T (p.Pro1453Ser)
c.4258C>T (p.Pro1420Ser)
c.524C>T
c.484C>T (p.Pro162Ser)
c.298C>T (p.Pro100Ser)
n.2598C>T
c.2851C>T (p.Pro951Ser)
c.1814C>T
c.4354C>T (p.Pro1452Ser)
c.2914C>T (p.Pro972Ser)
c.4267C>T (p.Pro1423Ser)
c.2642C>T
c.4363C>T (p.Pro1455Ser)
c.2721C>T
n.850C>T
c.3780C>T
c.2994C>T
c.3029C>T
c.3011C>T
c.2845C>T (p.Pro949Ser)
c.906C>T
c.55C>T (p.Pro19Ser)
c.2268C>T (n.2268C>T)
c.2700C>T
c.2205C>T (n.2205C>T)
c.2657C>T
n.860C>T
c.2611C>T (p.Pro871Ser)
c.4459C>T (p.Pro1487Ser)
n.671C>T
n.2795C>T
n.2330C>T
n.2180C>T
c.4366C>T (p.Pro1456Ser)
n.4747C>T
 dbSNP
19g.11041494C>ACA404073982SMARCA4c.4454C>A (p.Pro1485His)
c.4358C>A (p.Pro1453His)
c.4259C>A (p.Pro1420His)
c.525C>A
c.485C>A (p.Pro162His)
c.299C>A (p.Pro100His)
n.2599C>A
c.2852C>A (p.Pro951His)
c.1815C>A
c.4355C>A (p.Pro1452His)
c.2915C>A (p.Pro972His)
c.4268C>A (p.Pro1423His)
c.2643C>A
c.4364C>A (p.Pro1455His)
c.2722C>A
n.851C>A
c.3781C>A
c.2995C>A
c.3030C>A
c.3012C>A
c.2846C>A (p.Pro949His)
c.907C>A
c.56C>A (p.Pro19His)
c.2269C>A (n.2269C>A)
c.2701C>A
c.2206C>A (n.2206C>A)
c.2658C>A
n.861C>A
c.2612C>A (p.Pro871His)
c.4460C>A (p.Pro1487His)
n.672C>A
n.2796C>A
n.2331C>A
n.2181C>A
c.4367C>A (p.Pro1456His)
n.4748C>A
 dbSNP
19g.11041494C=CA2322735091SMARCA4c.4454C= (p.Pro1485=)
c.4358C= (p.Pro1453=)
c.4259C= (p.Pro1420=)
c.525C=
c.485C= (p.Pro162=)
c.299C= (p.Pro100=)
n.2599C=
c.2852C= (p.Pro951=)
c.1815C=
c.4355C= (p.Pro1452=)
c.2915C= (p.Pro972=)
c.4268C= (p.Pro1423=)
c.2643C=
c.4364C= (p.Pro1455=)
c.2722C=
n.851C=
c.3781C=
c.2995C=
c.3030C=
c.3012C=
c.2846C= (p.Pro949=)
c.907C=
c.56C= (p.Pro19=)
c.2269C= (n.2269C=)
c.2701C=
c.2206C= (n.2206C=)
c.2658C=
n.861C=
c.2612C= (p.Pro871=)
c.4460C= (p.Pro1487=)
n.672C=
n.2796C=
n.2331C=
n.2181C=
c.4367C= (p.Pro1456=)
n.4748C=
19g.11041494C>GCA404073984SMARCA4c.4454C>G (p.Pro1485Arg)
c.4358C>G (p.Pro1453Arg)
c.4259C>G (p.Pro1420Arg)
c.525C>G
c.485C>G (p.Pro162Arg)
c.299C>G (p.Pro100Arg)
n.2599C>G
c.2852C>G (p.Pro951Arg)
c.1815C>G
c.4355C>G (p.Pro1452Arg)
c.2915C>G (p.Pro972Arg)
c.4268C>G (p.Pro1423Arg)
c.2643C>G
c.4364C>G (p.Pro1455Arg)
c.2722C>G
n.851C>G
c.3781C>G
c.2995C>G
c.3030C>G
c.3012C>G
c.2846C>G (p.Pro949Arg)
c.907C>G
c.56C>G (p.Pro19Arg)
c.2269C>G (n.2269C>G)
c.2701C>G
c.2206C>G (n.2206C>G)
c.2658C>G
n.861C>G
c.2612C>G (p.Pro871Arg)
c.4460C>G (p.Pro1487Arg)
n.672C>G
n.2796C>G
n.2331C>G
n.2181C>G
c.4367C>G (p.Pro1456Arg)
n.4748C>G
 dbSNP
19g.11041494C>TCA404073983SMARCA4c.4454C>T (p.Pro1485Leu)
c.4358C>T (p.Pro1453Leu)
c.4259C>T (p.Pro1420Leu)
c.525C>T
c.485C>T (p.Pro162Leu)
c.299C>T (p.Pro100Leu)
n.2599C>T
c.2852C>T (p.Pro951Leu)
c.1815C>T
c.4355C>T (p.Pro1452Leu)
c.2915C>T (p.Pro972Leu)
c.4268C>T (p.Pro1423Leu)
c.2643C>T
c.4364C>T (p.Pro1455Leu)
c.2722C>T
n.851C>T
c.3781C>T
c.2995C>T
c.3030C>T
c.3012C>T
c.2846C>T (p.Pro949Leu)
c.907C>T
c.56C>T (p.Pro19Leu)
c.2269C>T (n.2269C>T)
c.2701C>T
c.2206C>T (n.2206C>T)
c.2658C>T
n.861C>T
c.2612C>T (p.Pro871Leu)
c.4460C>T (p.Pro1487Leu)
n.672C>T
n.2796C>T
n.2331C>T
n.2181C>T
c.4367C>T (p.Pro1456Leu)
n.4748C>T
 dbSNP
19g.11041495T>ACA505743940SMARCA4c.4455T>A (p.Pro1485=)
c.4359T>A (p.Pro1453=)
c.4260T>A (p.Pro1420=)
c.526T>A
c.486T>A (p.Pro162=)
c.300T>A (p.Pro100=)
n.2600T>A
c.2853T>A (p.Pro951=)
c.1816T>A
c.4356T>A (p.Pro1452=)
c.2916T>A (p.Pro972=)
c.4269T>A (p.Pro1423=)
c.2644T>A
c.4365T>A (p.Pro1455=)
c.2723T>A
n.852T>A
c.3782T>A
c.2996T>A
c.3031T>A
c.3013T>A
c.2847T>A (p.Pro949=)
c.908T>A
c.57T>A (p.Pro19=)
c.2270T>A (n.2270T>A)
c.2702T>A
c.2207T>A (n.2207T>A)
c.2659T>A
n.862T>A
c.2613T>A (p.Pro871=)
c.4461T>A (p.Pro1487=)
n.673T>A
n.2797T>A
n.2332T>A
n.2182T>A
c.4368T>A (p.Pro1456=)
n.4749T>A
 ClinVar
19g.11041495T>CCA505743941SMARCA4c.4455T>C (p.Pro1485=)
c.4359T>C (p.Pro1453=)
c.4260T>C (p.Pro1420=)
c.526T>C
c.486T>C (p.Pro162=)
c.300T>C (p.Pro100=)
n.2600T>C
c.2853T>C (p.Pro951=)
c.1816T>C
c.4356T>C (p.Pro1452=)
c.2916T>C (p.Pro972=)
c.4269T>C (p.Pro1423=)
c.2644T>C
c.4365T>C (p.Pro1455=)
c.2723T>C
n.852T>C
c.3782T>C
c.2996T>C
c.3031T>C
c.3013T>C
c.2847T>C (p.Pro949=)
c.908T>C
c.57T>C (p.Pro19=)
c.2270T>C (n.2270T>C)
c.2702T>C
c.2207T>C (n.2207T>C)
c.2659T>C
n.862T>C
c.2613T>C (p.Pro871=)
c.4461T>C (p.Pro1487=)
n.673T>C
n.2797T>C
n.2332T>C
n.2182T>C
c.4368T>C (p.Pro1456=)
n.4749T>C
19g.11041495T>GCA505743942SMARCA4c.4455T>G (p.Pro1485=)
c.4359T>G (p.Pro1453=)
c.4260T>G (p.Pro1420=)
c.526T>G
c.486T>G (p.Pro162=)
c.300T>G (p.Pro100=)
n.2600T>G
c.2853T>G (p.Pro951=)
c.1816T>G
c.4356T>G (p.Pro1452=)
c.2916T>G (p.Pro972=)
c.4269T>G (p.Pro1423=)
c.2644T>G
c.4365T>G (p.Pro1455=)
c.2723T>G
n.852T>G
c.3782T>G
c.2996T>G
c.3031T>G
c.3013T>G
c.2847T>G (p.Pro949=)
c.908T>G
c.57T>G (p.Pro19=)
c.2270T>G (n.2270T>G)
c.2702T>G
c.2207T>G (n.2207T>G)
c.2659T>G
n.862T>G
c.2613T>G (p.Pro871=)
c.4461T>G (p.Pro1487=)
n.673T>G
n.2797T>G
n.2332T>G
n.2182T>G
c.4368T>G (p.Pro1456=)
n.4749T>G
19g.11041496A>CCA404073985SMARCA4c.4456A>C (p.Asn1486His)
c.4360A>C (p.Asn1454His)
c.4261A>C (p.Asn1421His)
c.527A>C
c.487A>C (p.Asn163His)
c.301A>C (p.Asn101His)
n.2601A>C
c.2854A>C (p.Asn952His)
c.1817A>C
c.4357A>C (p.Asn1453His)
c.2917A>C (p.Asn973His)
c.4270A>C (p.Asn1424His)
c.2645A>C
c.4366A>C (p.Asn1456His)
c.2724A>C
n.853A>C
c.3783A>C
c.2997A>C
c.3032A>C
c.3014A>C
c.2848A>C (p.Asn950His)
c.909A>C
c.58A>C (p.Asn20His)
c.2271A>C (n.2271A>C)
c.2703A>C
c.2208A>C (n.2208A>C)
c.2660A>C
n.863A>C
c.2614A>C (p.Asn872His)
c.4462A>C (p.Asn1488His)
n.674A>C
n.2798A>C
n.2333A>C
n.2183A>C
c.4369A>C (p.Asn1457His)
n.4750A>C
 dbSNP
19g.11041496A>GCA404073989SMARCA4c.4456A>G (p.Asn1486Asp)
c.4360A>G (p.Asn1454Asp)
c.4261A>G (p.Asn1421Asp)
c.527A>G
c.487A>G (p.Asn163Asp)
c.301A>G (p.Asn101Asp)
n.2601A>G
c.2854A>G (p.Asn952Asp)
c.1817A>G
c.4357A>G (p.Asn1453Asp)
c.2917A>G (p.Asn973Asp)
c.4270A>G (p.Asn1424Asp)
c.2645A>G
c.4366A>G (p.Asn1456Asp)
c.2724A>G
n.853A>G
c.3783A>G
c.2997A>G
c.3032A>G
c.3014A>G
c.2848A>G (p.Asn950Asp)
c.909A>G
c.58A>G (p.Asn20Asp)
c.2271A>G (n.2271A>G)
c.2703A>G
c.2208A>G (n.2208A>G)
c.2660A>G
n.863A>G
c.2614A>G (p.Asn872Asp)
c.4462A>G (p.Asn1488Asp)
n.674A>G
n.2798A>G
n.2333A>G
n.2183A>G
c.4369A>G (p.Asn1457Asp)
n.4750A>G
 dbSNP
19g.11041496A>TCA404073987SMARCA4c.4456A>T (p.Asn1486Tyr)
c.4360A>T (p.Asn1454Tyr)
c.4261A>T (p.Asn1421Tyr)
c.527A>T
c.487A>T (p.Asn163Tyr)
c.301A>T (p.Asn101Tyr)
n.2601A>T
c.2854A>T (p.Asn952Tyr)
c.1817A>T
c.4357A>T (p.Asn1453Tyr)
c.2917A>T (p.Asn973Tyr)
c.4270A>T (p.Asn1424Tyr)
c.2645A>T
c.4366A>T (p.Asn1456Tyr)
c.2724A>T
n.853A>T
c.3783A>T
c.2997A>T
c.3032A>T
c.3014A>T
c.2848A>T (p.Asn950Tyr)
c.909A>T
c.58A>T (p.Asn20Tyr)
c.2271A>T (n.2271A>T)
c.2703A>T
c.2208A>T (n.2208A>T)
c.2660A>T
n.863A>T
c.2614A>T (p.Asn872Tyr)
c.4462A>T (p.Asn1488Tyr)
n.674A>T
n.2798A>T
n.2333A>T
n.2183A>T
c.4369A>T (p.Asn1457Tyr)
n.4750A>T
 dbSNP
19g.11041497A>CCA404073991SMARCA4c.4457A>C (p.Asn1486Thr)
c.4361A>C (p.Asn1454Thr)
c.4262A>C (p.Asn1421Thr)
c.528A>C
c.488A>C (p.Asn163Thr)
c.302A>C (p.Asn101Thr)
n.2602A>C
c.2855A>C (p.Asn952Thr)
c.1818A>C
c.4358A>C (p.Asn1453Thr)
c.2918A>C (p.Asn973Thr)
c.4271A>C (p.Asn1424Thr)
c.2646A>C
c.4367A>C (p.Asn1456Thr)
c.2725A>C
n.854A>C
c.3784A>C
c.2998A>C
c.3033A>C
c.3015A>C
c.2849A>C (p.Asn950Thr)
c.910A>C
c.59A>C (p.Asn20Thr)
c.2272A>C (n.2272A>C)
c.2704A>C
c.2209A>C (n.2209A>C)
c.2661A>C
n.864A>C
c.2615A>C (p.Asn872Thr)
c.4463A>C (p.Asn1488Thr)
n.675A>C
n.2799A>C
n.2334A>C
n.2184A>C
c.4370A>C (p.Asn1457Thr)
n.4751A>C
19g.11041497A>GCA404073995SMARCA4c.4457A>G (p.Asn1486Ser)
c.4361A>G (p.Asn1454Ser)
c.4262A>G (p.Asn1421Ser)
c.528A>G
c.488A>G (p.Asn163Ser)
c.302A>G (p.Asn101Ser)
n.2602A>G
c.2855A>G (p.Asn952Ser)
c.1818A>G
c.4358A>G (p.Asn1453Ser)
c.2918A>G (p.Asn973Ser)
c.4271A>G (p.Asn1424Ser)
c.2646A>G
c.4367A>G (p.Asn1456Ser)
c.2725A>G
n.854A>G
c.3784A>G
c.2998A>G
c.3033A>G
c.3015A>G
c.2849A>G (p.Asn950Ser)
c.910A>G
c.59A>G (p.Asn20Ser)
c.2272A>G (n.2272A>G)
c.2704A>G
c.2209A>G (n.2209A>G)
c.2661A>G
n.864A>G
c.2615A>G (p.Asn872Ser)
c.4463A>G (p.Asn1488Ser)
n.675A>G
n.2799A>G
n.2334A>G
n.2184A>G
c.4370A>G (p.Asn1457Ser)
n.4751A>G
19g.11041497A>TCA404073993SMARCA4c.4457A>T (p.Asn1486Ile)
c.4361A>T (p.Asn1454Ile)
c.4262A>T (p.Asn1421Ile)
c.528A>T
c.488A>T (p.Asn163Ile)
c.302A>T (p.Asn101Ile)
n.2602A>T
c.2855A>T (p.Asn952Ile)
c.1818A>T
c.4358A>T (p.Asn1453Ile)
c.2918A>T (p.Asn973Ile)
c.4271A>T (p.Asn1424Ile)
c.2646A>T
c.4367A>T (p.Asn1456Ile)
c.2725A>T
n.854A>T
c.3784A>T
c.2998A>T
c.3033A>T
c.3015A>T
c.2849A>T (p.Asn950Ile)
c.910A>T
c.59A>T (p.Asn20Ile)
c.2272A>T (n.2272A>T)
c.2704A>T
c.2209A>T (n.2209A>T)
c.2661A>T
n.864A>T
c.2615A>T (p.Asn872Ile)
c.4463A>T (p.Asn1488Ile)
n.675A>T
n.2799A>T
n.2334A>T
n.2184A>T
c.4370A>T (p.Asn1457Ile)
n.4751A>T
 dbSNP
19g.11041498C>ACA404073997SMARCA4c.4458C>A (p.Asn1486Lys)
c.4362C>A (p.Asn1454Lys)
c.4263C>A (p.Asn1421Lys)
c.529C>A
c.489C>A (p.Asn163Lys)
c.303C>A (p.Asn101Lys)
n.2603C>A
c.2856C>A (p.Asn952Lys)
c.1819C>A
c.4359C>A (p.Asn1453Lys)
c.2919C>A (p.Asn973Lys)
c.4272C>A (p.Asn1424Lys)
c.2647C>A
c.4368C>A (p.Asn1456Lys)
c.2726C>A
n.855C>A
c.3785C>A
c.2999C>A
c.3034C>A
c.3016C>A
c.2850C>A (p.Asn950Lys)
c.911C>A
c.60C>A (p.Asn20Lys)
c.2273C>A (n.2273C>A)
c.2705C>A
c.2210C>A (n.2210C>A)
c.2662C>A
n.865C>A
c.2616C>A (p.Asn872Lys)
c.4464C>A (p.Asn1488Lys)
n.676C>A
n.2800C>A
n.2335C>A
n.2185C>A
c.4371C>A (p.Asn1457Lys)
n.4752C>A
 dbSNP
19g.11041498C=CA2322735092SMARCA4c.4458C= (p.Asn1486=)
c.4362C= (p.Asn1454=)
c.4263C= (p.Asn1421=)
c.529C=
c.489C= (p.Asn163=)
c.303C= (p.Asn101=)
n.2603C=
c.2856C= (p.Asn952=)
c.1819C=
c.4359C= (p.Asn1453=)
c.2919C= (p.Asn973=)
c.4272C= (p.Asn1424=)
c.2647C=
c.4368C= (p.Asn1456=)
c.2726C=
n.855C=
c.3785C=
c.2999C=
c.3034C=
c.3016C=
c.2850C= (p.Asn950=)
c.911C=
c.60C= (p.Asn20=)
c.2273C= (n.2273C=)
c.2705C=
c.2210C= (n.2210C=)
c.2662C=
n.865C=
c.2616C= (p.Asn872=)
c.4464C= (p.Asn1488=)
n.676C=
n.2800C=
n.2335C=
n.2185C=
c.4371C= (p.Asn1457=)
n.4752C=
19g.11041498C>GCA404073998SMARCA4c.4458C>G (p.Asn1486Lys)
c.4362C>G (p.Asn1454Lys)
c.4263C>G (p.Asn1421Lys)
c.529C>G
c.489C>G (p.Asn163Lys)
c.303C>G (p.Asn101Lys)
n.2603C>G
c.2856C>G (p.Asn952Lys)
c.1819C>G
c.4359C>G (p.Asn1453Lys)
c.2919C>G (p.Asn973Lys)
c.4272C>G (p.Asn1424Lys)
c.2647C>G
c.4368C>G (p.Asn1456Lys)
c.2726C>G
n.855C>G
c.3785C>G
c.2999C>G
c.3034C>G
c.3016C>G
c.2850C>G (p.Asn950Lys)
c.911C>G
c.60C>G (p.Asn20Lys)
c.2273C>G (n.2273C>G)
c.2705C>G
c.2210C>G (n.2210C>G)
c.2662C>G
n.865C>G
c.2616C>G (p.Asn872Lys)
c.4464C>G (p.Asn1488Lys)
n.676C>G
n.2800C>G
n.2335C>G
n.2185C>G
c.4371C>G (p.Asn1457Lys)
n.4752C>G
 dbSNP gnomAD v4
19g.11041498C>TCA305294425SMARCA4c.4458C>T (p.Asn1486=)
c.4362C>T (p.Asn1454=)
c.4263C>T (p.Asn1421=)
c.529C>T
c.489C>T (p.Asn163=)
c.303C>T (p.Asn101=)
n.2603C>T
c.2856C>T (p.Asn952=)
c.1819C>T
c.4359C>T (p.Asn1453=)
c.2919C>T (p.Asn973=)
c.4272C>T (p.Asn1424=)
c.2647C>T
c.4368C>T (p.Asn1456=)
c.2726C>T
n.855C>T
c.3785C>T
c.2999C>T
c.3034C>T
c.3016C>T
c.2850C>T (p.Asn950=)
c.911C>T
c.60C>T (p.Asn20=)
c.2273C>T (n.2273C>T)
c.2705C>T
c.2210C>T (n.2210C>T)
c.2662C>T
n.865C>T
c.2616C>T (p.Asn872=)
c.4464C>T (p.Asn1488=)
n.676C>T
n.2800C>T
n.2335C>T
n.2185C>T
c.4371C>T (p.Asn1457=)
n.4752C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.11041499C>ACA404074001SMARCA4c.4459C>A (p.Pro1487Thr)
c.4363C>A (p.Pro1455Thr)
c.4264C>A (p.Pro1422Thr)
c.530C>A
c.490C>A (p.Pro164Thr)
c.304C>A (p.Pro102Thr)
n.2604C>A
c.2857C>A (p.Pro953Thr)
c.1820C>A
c.4360C>A (p.Pro1454Thr)
c.2920C>A (p.Pro974Thr)
c.4273C>A (p.Pro1425Thr)
c.2648C>A
c.4369C>A (p.Pro1457Thr)
c.2727C>A
n.856C>A
c.3786C>A
c.3000C>A
c.3035C>A
c.3017C>A
c.2851C>A (p.Pro951Thr)
c.912C>A
c.61C>A (p.Pro21Thr)
c.2274C>A (n.2274C>A)
c.2706C>A
c.2211C>A (n.2211C>A)
c.2663C>A
n.866C>A
c.2617C>A (p.Pro873Thr)
c.4465C>A (p.Pro1489Thr)
n.677C>A
n.2801C>A
n.2336C>A
n.2186C>A
c.4372C>A (p.Pro1458Thr)
n.4753C>A
 dbSNP
19g.11041499C>GCA404074002SMARCA4c.4459C>G (p.Pro1487Ala)
c.4363C>G (p.Pro1455Ala)
c.4264C>G (p.Pro1422Ala)
c.530C>G
c.490C>G (p.Pro164Ala)
c.304C>G (p.Pro102Ala)
n.2604C>G
c.2857C>G (p.Pro953Ala)
c.1820C>G
c.4360C>G (p.Pro1454Ala)
c.2920C>G (p.Pro974Ala)
c.4273C>G (p.Pro1425Ala)
c.2648C>G
c.4369C>G (p.Pro1457Ala)
c.2727C>G
n.856C>G
c.3786C>G
c.3000C>G
c.3035C>G
c.3017C>G
c.2851C>G (p.Pro951Ala)
c.912C>G
c.61C>G (p.Pro21Ala)
c.2274C>G (n.2274C>G)
c.2706C>G
c.2211C>G (n.2211C>G)
c.2663C>G
n.866C>G
c.2617C>G (p.Pro873Ala)
c.4465C>G (p.Pro1489Ala)
n.677C>G
n.2801C>G
n.2336C>G
n.2186C>G
c.4372C>G (p.Pro1458Ala)
n.4753C>G
 ClinVar dbSNP
19g.11041499C>TCA404074003SMARCA4c.4459C>T (p.Pro1487Ser)
c.4363C>T (p.Pro1455Ser)
c.4264C>T (p.Pro1422Ser)
c.530C>T
c.490C>T (p.Pro164Ser)
c.304C>T (p.Pro102Ser)
n.2604C>T
c.2857C>T (p.Pro953Ser)
c.1820C>T
c.4360C>T (p.Pro1454Ser)
c.2920C>T (p.Pro974Ser)
c.4273C>T (p.Pro1425Ser)
c.2648C>T
c.4369C>T (p.Pro1457Ser)
c.2727C>T
n.856C>T
c.3786C>T
c.3000C>T
c.3035C>T
c.3017C>T
c.2851C>T (p.Pro951Ser)
c.912C>T
c.61C>T (p.Pro21Ser)
c.2274C>T (n.2274C>T)
c.2706C>T
c.2211C>T (n.2211C>T)
c.2663C>T
n.866C>T
c.2617C>T (p.Pro873Ser)
c.4465C>T (p.Pro1489Ser)
n.677C>T
n.2801C>T
n.2336C>T
n.2186C>T
c.4372C>T (p.Pro1458Ser)
n.4753C>T
 dbSNP
19g.11041500C>ACA404074006SMARCA4c.4460C>A (p.Pro1487Gln)
c.4364C>A (p.Pro1455Gln)
c.4265C>A (p.Pro1422Gln)
c.531C>A
c.491C>A (p.Pro164Gln)
c.305C>A (p.Pro102Gln)
n.2605C>A
c.2858C>A (p.Pro953Gln)
c.1821C>A
c.4361C>A (p.Pro1454Gln)
c.2921C>A (p.Pro974Gln)
c.4274C>A (p.Pro1425Gln)
c.2649C>A
c.4370C>A (p.Pro1457Gln)
c.2728C>A
n.857C>A
c.3787C>A
c.3001C>A
c.3036C>A
c.3018C>A
c.2852C>A (p.Pro951Gln)
c.913C>A
c.62C>A (p.Pro21Gln)
c.2275C>A (n.2275C>A)
c.2707C>A
c.2212C>A (n.2212C>A)
c.2664C>A
n.867C>A
c.2618C>A (p.Pro873Gln)
c.4466C>A (p.Pro1489Gln)
n.678C>A
n.2802C>A
n.2337C>A
n.2187C>A
c.4373C>A (p.Pro1458Gln)
n.4754C>A
 dbSNP
19g.11041500C>GCA404074008SMARCA4c.4460C>G (p.Pro1487Arg)
c.4364C>G (p.Pro1455Arg)
c.4265C>G (p.Pro1422Arg)
c.531C>G
c.491C>G (p.Pro164Arg)
c.305C>G (p.Pro102Arg)
n.2605C>G
c.2858C>G (p.Pro953Arg)
c.1821C>G
c.4361C>G (p.Pro1454Arg)
c.2921C>G (p.Pro974Arg)
c.4274C>G (p.Pro1425Arg)
c.2649C>G
c.4370C>G (p.Pro1457Arg)
c.2728C>G
n.857C>G
c.3787C>G
c.3001C>G
c.3036C>G
c.3018C>G
c.2852C>G (p.Pro951Arg)
c.913C>G
c.62C>G (p.Pro21Arg)
c.2275C>G (n.2275C>G)
c.2707C>G
c.2212C>G (n.2212C>G)
c.2664C>G
n.867C>G
c.2618C>G (p.Pro873Arg)
c.4466C>G (p.Pro1489Arg)
n.678C>G
n.2802C>G
n.2337C>G
n.2187C>G
c.4373C>G (p.Pro1458Arg)
n.4754C>G
 dbSNP
19g.11041500C>TCA404074009SMARCA4c.4460C>T (p.Pro1487Leu)
c.4364C>T (p.Pro1455Leu)
c.4265C>T (p.Pro1422Leu)
c.531C>T
c.491C>T (p.Pro164Leu)
c.305C>T (p.Pro102Leu)
n.2605C>T
c.2858C>T (p.Pro953Leu)
c.1821C>T
c.4361C>T (p.Pro1454Leu)
c.2921C>T (p.Pro974Leu)
c.4274C>T (p.Pro1425Leu)
c.2649C>T
c.4370C>T (p.Pro1457Leu)
c.2728C>T
n.857C>T
c.3787C>T
c.3001C>T
c.3036C>T
c.3018C>T
c.2852C>T (p.Pro951Leu)
c.913C>T
c.62C>T (p.Pro21Leu)
c.2275C>T (n.2275C>T)
c.2707C>T
c.2212C>T (n.2212C>T)
c.2664C>T
n.867C>T
c.2618C>T (p.Pro873Leu)
c.4466C>T (p.Pro1489Leu)
n.678C>T
n.2802C>T
n.2337C>T
n.2187C>T
c.4373C>T (p.Pro1458Leu)
n.4754C>T
 dbSNP gnomAD v4
19g.11041501A>CCA505743944SMARCA4c.4461A>C (p.Pro1487=)
c.4365A>C (p.Pro1455=)
c.4266A>C (p.Pro1422=)
c.532A>C
c.492A>C (p.Pro164=)
c.306A>C (p.Pro102=)
n.2606A>C
c.2859A>C (p.Pro953=)
c.1822A>C
c.4362A>C (p.Pro1454=)
c.2922A>C (p.Pro974=)
c.4275A>C (p.Pro1425=)
c.2650A>C
c.4371A>C (p.Pro1457=)
c.2729A>C
n.858A>C
c.3788A>C
c.3002A>C
c.3037A>C
c.3019A>C
c.2853A>C (p.Pro951=)
c.914A>C
c.63A>C (p.Pro21=)
c.2276A>C (n.2276A>C)
c.2708A>C
c.2213A>C (n.2213A>C)
c.2665A>C
n.868A>C
c.2619A>C (p.Pro873=)
c.4467A>C (p.Pro1489=)
n.679A>C
n.2803A>C
n.2338A>C
n.2188A>C
c.4374A>C (p.Pro1458=)
n.4755A>C
 ClinVar
19g.11041501A>GCA505743945SMARCA4c.4461A>G (p.Pro1487=)
c.4365A>G (p.Pro1455=)
c.4266A>G (p.Pro1422=)
c.532A>G
c.492A>G (p.Pro164=)
c.306A>G (p.Pro102=)
n.2606A>G
c.2859A>G (p.Pro953=)
c.1822A>G
c.4362A>G (p.Pro1454=)
c.2922A>G (p.Pro974=)
c.4275A>G (p.Pro1425=)
c.2650A>G
c.4371A>G (p.Pro1457=)
c.2729A>G
n.858A>G
c.3788A>G
c.3002A>G
c.3037A>G
c.3019A>G
c.2853A>G (p.Pro951=)
c.914A>G
c.63A>G (p.Pro21=)
c.2276A>G (n.2276A>G)
c.2708A>G
c.2213A>G (n.2213A>G)
c.2665A>G
n.868A>G
c.2619A>G (p.Pro873=)
c.4467A>G (p.Pro1489=)
n.679A>G
n.2803A>G
n.2338A>G
n.2188A>G
c.4374A>G (p.Pro1458=)
n.4755A>G
 ClinVar
19g.11041501A>TCA505743946SMARCA4c.4461A>T (p.Pro1487=)
c.4365A>T (p.Pro1455=)
c.4266A>T (p.Pro1422=)
c.532A>T
c.492A>T (p.Pro164=)
c.306A>T (p.Pro102=)
n.2606A>T
c.2859A>T (p.Pro953=)
c.1822A>T
c.4362A>T (p.Pro1454=)
c.2922A>T (p.Pro974=)
c.4275A>T (p.Pro1425=)
c.2650A>T
c.4371A>T (p.Pro1457=)
c.2729A>T
n.858A>T
c.3788A>T
c.3002A>T
c.3037A>T
c.3019A>T
c.2853A>T (p.Pro951=)
c.914A>T
c.63A>T (p.Pro21=)
c.2276A>T (n.2276A>T)
c.2708A>T
c.2213A>T (n.2213A>T)
c.2665A>T
n.868A>T
c.2619A>T (p.Pro873=)
c.4467A>T (p.Pro1489=)
n.679A>T
n.2803A>T
n.2338A>T
n.2188A>T
c.4374A>T (p.Pro1458=)
n.4755A>T
19g.11041502C>ACA404074015SMARCA4c.4462C>A (p.Pro1488Thr)
c.4366C>A (p.Pro1456Thr)
c.4267C>A (p.Pro1423Thr)
c.533C>A
c.493C>A (p.Pro165Thr)
c.307C>A (p.Pro103Thr)
n.2607C>A
c.2860C>A (p.Pro954Thr)
c.1823C>A
c.4363C>A (p.Pro1455Thr)
c.2923C>A (p.Pro975Thr)
c.4276C>A (p.Pro1426Thr)
c.2651C>A
c.4372C>A (p.Pro1458Thr)
c.2730C>A
n.859C>A
c.3789C>A
c.3003C>A
c.3038C>A
c.3020C>A
c.2854C>A (p.Pro952Thr)
c.915C>A
c.64C>A (p.Pro22Thr)
c.2277C>A (n.2277C>A)
c.2709C>A
c.2214C>A (n.2214C>A)
c.2666C>A
n.869C>A
c.2620C>A (p.Pro874Thr)
c.4468C>A (p.Pro1490Thr)
n.680C>A
n.2804C>A
n.2339C>A
n.2189C>A
c.4375C>A (p.Pro1459Thr)
n.4756C>A
 dbSNP
19g.11041502C>GCA404074013SMARCA4c.4462C>G (p.Pro1488Ala)
c.4366C>G (p.Pro1456Ala)
c.4267C>G (p.Pro1423Ala)
c.533C>G
c.493C>G (p.Pro165Ala)
c.307C>G (p.Pro103Ala)
n.2607C>G
c.2860C>G (p.Pro954Ala)
c.1823C>G
c.4363C>G (p.Pro1455Ala)
c.2923C>G (p.Pro975Ala)
c.4276C>G (p.Pro1426Ala)
c.2651C>G
c.4372C>G (p.Pro1458Ala)
c.2730C>G
n.859C>G
c.3789C>G
c.3003C>G
c.3038C>G
c.3020C>G
c.2854C>G (p.Pro952Ala)
c.915C>G
c.64C>G (p.Pro22Ala)
c.2277C>G (n.2277C>G)
c.2709C>G
c.2214C>G (n.2214C>G)
c.2666C>G
n.869C>G
c.2620C>G (p.Pro874Ala)
c.4468C>G (p.Pro1490Ala)
n.680C>G
n.2804C>G
n.2339C>G
n.2189C>G
c.4375C>G (p.Pro1459Ala)
n.4756C>G
 dbSNP
19g.11041502C>TCA404074012SMARCA4c.4462C>T (p.Pro1488Ser)
c.4366C>T (p.Pro1456Ser)
c.4267C>T (p.Pro1423Ser)
c.533C>T
c.493C>T (p.Pro165Ser)
c.307C>T (p.Pro103Ser)
n.2607C>T
c.2860C>T (p.Pro954Ser)
c.1823C>T
c.4363C>T (p.Pro1455Ser)
c.2923C>T (p.Pro975Ser)
c.4276C>T (p.Pro1426Ser)
c.2651C>T
c.4372C>T (p.Pro1458Ser)
c.2730C>T
n.859C>T
c.3789C>T
c.3003C>T
c.3038C>T
c.3020C>T
c.2854C>T (p.Pro952Ser)
c.915C>T
c.64C>T (p.Pro22Ser)
c.2277C>T (n.2277C>T)
c.2709C>T
c.2214C>T (n.2214C>T)
c.2666C>T
n.869C>T
c.2620C>T (p.Pro874Ser)
c.4468C>T (p.Pro1490Ser)
n.680C>T
n.2804C>T
n.2339C>T
n.2189C>T
c.4375C>T (p.Pro1459Ser)
n.4756C>T
 ClinVar dbSNP gnomAD v4
19g.11041503C>ACA404074016SMARCA4c.4463C>A (p.Pro1488His)
c.4367C>A (p.Pro1456His)
c.4268C>A (p.Pro1423His)
c.534C>A
c.494C>A (p.Pro165His)
c.308C>A (p.Pro103His)
n.2608C>A
c.2861C>A (p.Pro954His)
c.1824C>A
c.4364C>A (p.Pro1455His)
c.2924C>A (p.Pro975His)
c.4277C>A (p.Pro1426His)
c.2652C>A
c.4373C>A (p.Pro1458His)
c.2731C>A
n.860C>A
c.3790C>A
c.3004C>A
c.3039C>A
c.3021C>A
c.2855C>A (p.Pro952His)
c.916C>A
c.65C>A (p.Pro22His)
c.2278C>A (n.2278C>A)
c.2710C>A
c.2215C>A (n.2215C>A)
c.2667C>A
n.870C>A
c.2621C>A (p.Pro874His)
c.4469C>A (p.Pro1490His)
n.681C>A
n.2805C>A
n.2340C>A
n.2190C>A
c.4376C>A (p.Pro1459His)
n.4757C>A
 ClinVar dbSNP
19g.11041503C=CA2322735093SMARCA4c.4463C= (p.Pro1488=)
c.4367C= (p.Pro1456=)
c.4268C= (p.Pro1423=)
c.534C=
c.494C= (p.Pro165=)
c.308C= (p.Pro103=)
n.2608C=
c.2861C= (p.Pro954=)
c.1824C=
c.4364C= (p.Pro1455=)
c.2924C= (p.Pro975=)
c.4277C= (p.Pro1426=)
c.2652C=
c.4373C= (p.Pro1458=)
c.2731C=
n.860C=
c.3790C=
c.3004C=
c.3039C=
c.3021C=
c.2855C= (p.Pro952=)
c.916C=
c.65C= (p.Pro22=)
c.2278C= (n.2278C=)
c.2710C=
c.2215C= (n.2215C=)
c.2667C=
n.870C=
c.2621C= (p.Pro874=)
c.4469C= (p.Pro1490=)
n.681C=
n.2805C=
n.2340C=
n.2190C=
c.4376C= (p.Pro1459=)
n.4757C=
19g.11041503C>GCA404074018SMARCA4c.4463C>G (p.Pro1488Arg)
c.4367C>G (p.Pro1456Arg)
c.4268C>G (p.Pro1423Arg)
c.534C>G
c.494C>G (p.Pro165Arg)
c.308C>G (p.Pro103Arg)
n.2608C>G
c.2861C>G (p.Pro954Arg)
c.1824C>G
c.4364C>G (p.Pro1455Arg)
c.2924C>G (p.Pro975Arg)
c.4277C>G (p.Pro1426Arg)
c.2652C>G
c.4373C>G (p.Pro1458Arg)
c.2731C>G
n.860C>G
c.3790C>G
c.3004C>G
c.3039C>G
c.3021C>G
c.2855C>G (p.Pro952Arg)
c.916C>G
c.65C>G (p.Pro22Arg)
c.2278C>G (n.2278C>G)
c.2710C>G
c.2215C>G (n.2215C>G)
c.2667C>G
n.870C>G
c.2621C>G (p.Pro874Arg)
c.4469C>G (p.Pro1490Arg)
n.681C>G
n.2805C>G
n.2340C>G
n.2190C>G
c.4376C>G (p.Pro1459Arg)
n.4757C>G
 ClinVar dbSNP
19g.11041503C>TCA404074020SMARCA4c.4463C>T (p.Pro1488Leu)
c.4367C>T (p.Pro1456Leu)
c.4268C>T (p.Pro1423Leu)
c.534C>T
c.494C>T (p.Pro165Leu)
c.308C>T (p.Pro103Leu)
n.2608C>T
c.2861C>T (p.Pro954Leu)
c.1824C>T
c.4364C>T (p.Pro1455Leu)
c.2924C>T (p.Pro975Leu)
c.4277C>T (p.Pro1426Leu)
c.2652C>T
c.4373C>T (p.Pro1458Leu)
c.2731C>T
n.860C>T
c.3790C>T
c.3004C>T
c.3039C>T
c.3021C>T
c.2855C>T (p.Pro952Leu)
c.916C>T
c.65C>T (p.Pro22Leu)
c.2278C>T (n.2278C>T)
c.2710C>T
c.2215C>T (n.2215C>T)
c.2667C>T
n.870C>T
c.2621C>T (p.Pro874Leu)
c.4469C>T (p.Pro1490Leu)
n.681C>T
n.2805C>T
n.2340C>T
n.2190C>T
c.4376C>T (p.Pro1459Leu)
n.4757C>T
 dbSNP COSMIC COSMIC
19g.11041504C>ACA505743950SMARCA4c.4464C>A (p.Pro1488=)
c.4368C>A (p.Pro1456=)
c.4269C>A (p.Pro1423=)
c.535C>A
c.495C>A (p.Pro165=)
c.309C>A (p.Pro103=)
n.2609C>A
c.2862C>A (p.Pro954=)
c.1825C>A
c.4365C>A (p.Pro1455=)
c.2925C>A (p.Pro975=)
c.4278C>A (p.Pro1426=)
c.2653C>A
c.4374C>A (p.Pro1458=)
c.2732C>A
n.861C>A
c.3791C>A
c.3005C>A
c.3040C>A
c.3022C>A
c.2856C>A (p.Pro952=)
c.917C>A
c.66C>A (p.Pro22=)
c.2279C>A (n.2279C>A)
c.2711C>A
c.2216C>A (n.2216C>A)
c.2668C>A
n.871C>A
c.2622C>A (p.Pro874=)
c.4470C>A (p.Pro1490=)
n.682C>A
n.2806C>A
n.2341C>A
n.2191C>A
c.4377C>A (p.Pro1459=)
n.4758C>A
 dbSNP
19g.11041504C>GCA505743952SMARCA4c.4464C>G (p.Pro1488=)
c.4368C>G (p.Pro1456=)
c.4269C>G (p.Pro1423=)
c.535C>G
c.495C>G (p.Pro165=)
c.309C>G (p.Pro103=)
n.2609C>G
c.2862C>G (p.Pro954=)
c.1825C>G
c.4365C>G (p.Pro1455=)
c.2925C>G (p.Pro975=)
c.4278C>G (p.Pro1426=)
c.2653C>G
c.4374C>G (p.Pro1458=)
c.2732C>G
n.861C>G
c.3791C>G
c.3005C>G
c.3040C>G
c.3022C>G
c.2856C>G (p.Pro952=)
c.917C>G
c.66C>G (p.Pro22=)
c.2279C>G (n.2279C>G)
c.2711C>G
c.2216C>G (n.2216C>G)
c.2668C>G
n.871C>G
c.2622C>G (p.Pro874=)
c.4470C>G (p.Pro1490=)
n.682C>G
n.2806C>G
n.2341C>G
n.2191C>G
c.4377C>G (p.Pro1459=)
n.4758C>G
 dbSNP
19g.11041504C>TCA505743953SMARCA4c.4464C>T (p.Pro1488=)
c.4368C>T (p.Pro1456=)
c.4269C>T (p.Pro1423=)
c.535C>T
c.495C>T (p.Pro165=)
c.309C>T (p.Pro103=)
n.2609C>T
c.2862C>T (p.Pro954=)
c.1825C>T
c.4365C>T (p.Pro1455=)
c.2925C>T (p.Pro975=)
c.4278C>T (p.Pro1426=)
c.2653C>T
c.4374C>T (p.Pro1458=)
c.2732C>T
n.861C>T
c.3791C>T
c.3005C>T
c.3040C>T
c.3022C>T
c.2856C>T (p.Pro952=)
c.917C>T
c.66C>T (p.Pro22=)
c.2279C>T (n.2279C>T)
c.2711C>T
c.2216C>T (n.2216C>T)
c.2668C>T
n.871C>T
c.2622C>T (p.Pro874=)
c.4470C>T (p.Pro1490=)
n.682C>T
n.2806C>T
n.2341C>T
n.2191C>T
c.4377C>T (p.Pro1459=)
n.4758C>T
 ClinVar dbSNP
19g.11041505A>CCA404074023SMARCA4c.4465A>C (p.Asn1489His)
c.4369A>C (p.Asn1457His)
c.4270A>C (p.Asn1424His)
c.536A>C
c.496A>C (p.Asn166His)
c.310A>C (p.Asn104His)
n.2610A>C
c.2863A>C (p.Asn955His)
c.1826A>C
c.4366A>C (p.Asn1456His)
c.2926A>C (p.Asn976His)
c.4279A>C (p.Asn1427His)
c.2654A>C
c.4375A>C (p.Asn1459His)
c.2733A>C
n.862A>C
c.3792A>C
c.3006A>C
c.3041A>C
c.3023A>C
c.2857A>C (p.Asn953His)
c.918A>C
c.67A>C (p.Asn23His)
c.2280A>C (n.2280A>C)
c.2712A>C
c.2217A>C (n.2217A>C)
c.2669A>C
n.872A>C
c.2623A>C (p.Asn875His)
c.4471A>C (p.Asn1491His)
n.683A>C
n.2807A>C
n.2342A>C
n.2192A>C
c.4378A>C (p.Asn1460His)
n.4759A>C
19g.11041505A>GCA404074024SMARCA4c.4465A>G (p.Asn1489Asp)
c.4369A>G (p.Asn1457Asp)
c.4270A>G (p.Asn1424Asp)
c.536A>G
c.496A>G (p.Asn166Asp)
c.310A>G (p.Asn104Asp)
n.2610A>G
c.2863A>G (p.Asn955Asp)
c.1826A>G
c.4366A>G (p.Asn1456Asp)
c.2926A>G (p.Asn976Asp)
c.4279A>G (p.Asn1427Asp)
c.2654A>G
c.4375A>G (p.Asn1459Asp)
c.2733A>G
n.862A>G
c.3792A>G
c.3006A>G
c.3041A>G
c.3023A>G
c.2857A>G (p.Asn953Asp)
c.918A>G
c.67A>G (p.Asn23Asp)
c.2280A>G (n.2280A>G)
c.2712A>G
c.2217A>G (n.2217A>G)
c.2669A>G
n.872A>G
c.2623A>G (p.Asn875Asp)
c.4471A>G (p.Asn1491Asp)
n.683A>G
n.2807A>G
n.2342A>G
n.2192A>G
c.4378A>G (p.Asn1460Asp)
n.4759A>G
19g.11041505A>TCA404074025SMARCA4c.4465A>T (p.Asn1489Tyr)
c.4369A>T (p.Asn1457Tyr)
c.4270A>T (p.Asn1424Tyr)
c.536A>T
c.496A>T (p.Asn166Tyr)
c.310A>T (p.Asn104Tyr)
n.2610A>T
c.2863A>T (p.Asn955Tyr)
c.1826A>T
c.4366A>T (p.Asn1456Tyr)
c.2926A>T (p.Asn976Tyr)
c.4279A>T (p.Asn1427Tyr)
c.2654A>T
c.4375A>T (p.Asn1459Tyr)
c.2733A>T
n.862A>T
c.3792A>T
c.3006A>T
c.3041A>T
c.3023A>T
c.2857A>T (p.Asn953Tyr)
c.918A>T
c.67A>T (p.Asn23Tyr)
c.2280A>T (n.2280A>T)
c.2712A>T
c.2217A>T (n.2217A>T)
c.2669A>T
n.872A>T
c.2623A>T (p.Asn875Tyr)
c.4471A>T (p.Asn1491Tyr)
n.683A>T
n.2807A>T
n.2342A>T
n.2192A>T
c.4378A>T (p.Asn1460Tyr)
n.4759A>T
 ClinVar
19g.11041506A=CA2322735094SMARCA4c.4466A= (p.Asn1489=)
c.4370A= (p.Asn1457=)
c.4271A= (p.Asn1424=)
c.537A=
c.497A= (p.Asn166=)
c.311A= (p.Asn104=)
n.2611A=
c.2864A= (p.Asn955=)
c.1827A=
c.4367A= (p.Asn1456=)
c.2927A= (p.Asn976=)
c.4280A= (p.Asn1427=)
c.2655A=
c.4376A= (p.Asn1459=)
c.2734A=
n.863A=
c.3793A=
c.3007A=
c.3042A=
c.3024A=
c.2858A= (p.Asn953=)
c.919A=
c.68A= (p.Asn23=)
c.2281A= (n.2281A=)
c.2713A=
c.2218A= (n.2218A=)
c.2670A=
n.873A=
c.2624A= (p.Asn875=)
c.4472A= (p.Asn1491=)
n.684A=
n.2808A=
n.2343A=
n.2193A=
c.4379A= (p.Asn1460=)
n.4760A=
19g.11041506A>CCA404074027SMARCA4c.4466A>C (p.Asn1489Thr)
c.4370A>C (p.Asn1457Thr)
c.4271A>C (p.Asn1424Thr)
c.537A>C
c.497A>C (p.Asn166Thr)
c.311A>C (p.Asn104Thr)
n.2611A>C
c.2864A>C (p.Asn955Thr)
c.1827A>C
c.4367A>C (p.Asn1456Thr)
c.2927A>C (p.Asn976Thr)
c.4280A>C (p.Asn1427Thr)
c.2655A>C
c.4376A>C (p.Asn1459Thr)
c.2734A>C
n.863A>C
c.3793A>C
c.3007A>C
c.3042A>C
c.3024A>C
c.2858A>C (p.Asn953Thr)
c.919A>C
c.68A>C (p.Asn23Thr)
c.2281A>C (n.2281A>C)
c.2713A>C
c.2218A>C (n.2218A>C)
c.2670A>C
n.873A>C
c.2624A>C (p.Asn875Thr)
c.4472A>C (p.Asn1491Thr)
n.684A>C
n.2808A>C
n.2343A>C
n.2193A>C
c.4379A>C (p.Asn1460Thr)
n.4760A>C
 ClinVar dbSNP
19g.11041506A>GCA404074028SMARCA4c.4466A>G (p.Asn1489Ser)
c.4370A>G (p.Asn1457Ser)
c.4271A>G (p.Asn1424Ser)
c.537A>G
c.497A>G (p.Asn166Ser)
c.311A>G (p.Asn104Ser)
n.2611A>G
c.2864A>G (p.Asn955Ser)
c.1827A>G
c.4367A>G (p.Asn1456Ser)
c.2927A>G (p.Asn976Ser)
c.4280A>G (p.Asn1427Ser)
c.2655A>G
c.4376A>G (p.Asn1459Ser)
c.2734A>G
n.863A>G
c.3793A>G
c.3007A>G
c.3042A>G
c.3024A>G
c.2858A>G (p.Asn953Ser)
c.919A>G
c.68A>G (p.Asn23Ser)
c.2281A>G (n.2281A>G)
c.2713A>G
c.2218A>G (n.2218A>G)
c.2670A>G
n.873A>G
c.2624A>G (p.Asn875Ser)
c.4472A>G (p.Asn1491Ser)
n.684A>G
n.2808A>G
n.2343A>G
n.2193A>G
c.4379A>G (p.Asn1460Ser)
n.4760A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.11041506A>TCA404074029SMARCA4c.4466A>T (p.Asn1489Ile)
c.4370A>T (p.Asn1457Ile)
c.4271A>T (p.Asn1424Ile)
c.537A>T
c.497A>T (p.Asn166Ile)
c.311A>T (p.Asn104Ile)
n.2611A>T
c.2864A>T (p.Asn955Ile)
c.1827A>T
c.4367A>T (p.Asn1456Ile)
c.2927A>T (p.Asn976Ile)
c.4280A>T (p.Asn1427Ile)
c.2655A>T
c.4376A>T (p.Asn1459Ile)
c.2734A>T
n.863A>T
c.3793A>T
c.3007A>T
c.3042A>T
c.3024A>T
c.2858A>T (p.Asn953Ile)
c.919A>T
c.68A>T (p.Asn23Ile)
c.2281A>T (n.2281A>T)
c.2713A>T
c.2218A>T (n.2218A>T)
c.2670A>T
n.873A>T
c.2624A>T (p.Asn875Ile)
c.4472A>T (p.Asn1491Ile)
n.684A>T
n.2808A>T
n.2343A>T
n.2193A>T
c.4379A>T (p.Asn1460Ile)
n.4760A>T
 dbSNP
19g.11041507C>ACA404074030SMARCA4c.4467C>A (p.Asn1489Lys)
c.4371C>A (p.Asn1457Lys)
c.4272C>A (p.Asn1424Lys)
c.538C>A
c.498C>A (p.Asn166Lys)
c.312C>A (p.Asn104Lys)
n.2612C>A
c.2865C>A (p.Asn955Lys)
c.1828C>A
c.4368C>A (p.Asn1456Lys)
c.2928C>A (p.Asn976Lys)
c.4281C>A (p.Asn1427Lys)
c.2656C>A
c.4377C>A (p.Asn1459Lys)
c.2735C>A
n.864C>A
c.3794C>A
c.3008C>A
c.3043C>A
c.3025C>A
c.2859C>A (p.Asn953Lys)
c.920C>A
c.69C>A (p.Asn23Lys)
c.2282C>A (n.2282C>A)
c.2714C>A
c.2219C>A (n.2219C>A)
c.2671C>A
n.874C>A
c.2625C>A (p.Asn875Lys)
c.4473C>A (p.Asn1491Lys)
n.685C>A
n.2809C>A
n.2344C>A
n.2194C>A
c.4380C>A (p.Asn1460Lys)
n.4761C>A
 dbSNP
19g.11041507C>GCA404074031SMARCA4c.4467C>G (p.Asn1489Lys)
c.4371C>G (p.Asn1457Lys)
c.4272C>G (p.Asn1424Lys)
c.538C>G
c.498C>G (p.Asn166Lys)
c.312C>G (p.Asn104Lys)
n.2612C>G
c.2865C>G (p.Asn955Lys)
c.1828C>G
c.4368C>G (p.Asn1456Lys)
c.2928C>G (p.Asn976Lys)
c.4281C>G (p.Asn1427Lys)
c.2656C>G
c.4377C>G (p.Asn1459Lys)
c.2735C>G
n.864C>G
c.3794C>G
c.3008C>G
c.3043C>G
c.3025C>G
c.2859C>G (p.Asn953Lys)
c.920C>G
c.69C>G (p.Asn23Lys)
c.2282C>G (n.2282C>G)
c.2714C>G
c.2219C>G (n.2219C>G)
c.2671C>G
n.874C>G
c.2625C>G (p.Asn875Lys)
c.4473C>G (p.Asn1491Lys)
n.685C>G
n.2809C>G
n.2344C>G
n.2194C>G
c.4380C>G (p.Asn1460Lys)
n.4761C>G
 dbSNP
19g.11041507C>TCA505743955SMARCA4c.4467C>T (p.Asn1489=)
c.4371C>T (p.Asn1457=)
c.4272C>T (p.Asn1424=)
c.538C>T
c.498C>T (p.Asn166=)
c.312C>T (p.Asn104=)
n.2612C>T
c.2865C>T (p.Asn955=)
c.1828C>T
c.4368C>T (p.Asn1456=)
c.2928C>T (p.Asn976=)
c.4281C>T (p.Asn1427=)
c.2656C>T
c.4377C>T (p.Asn1459=)
c.2735C>T
n.864C>T
c.3794C>T
c.3008C>T
c.3043C>T
c.3025C>T
c.2859C>T (p.Asn953=)
c.920C>T
c.69C>T (p.Asn23=)
c.2282C>T (n.2282C>T)
c.2714C>T
c.2219C>T (n.2219C>T)
c.2671C>T
n.874C>T
c.2625C>T (p.Asn875=)
c.4473C>T (p.Asn1491=)
n.685C>T
n.2809C>T
n.2344C>T
n.2194C>T
c.4380C>T (p.Asn1460=)
n.4761C>T
 ClinVar dbSNP gnomAD v4
19g.11041508delCA2813597155SMARCA4c.4468del (p.Leu1490SerfsTer5)
c.4372del (p.Leu1458SerfsTer5)
c.4273del (p.Leu1425SerfsTer5)
c.539del
c.499del (p.Leu167SerfsTer5)
c.313del (p.Leu105SerfsTer5)
n.2613del
c.2866del (p.Leu956SerfsTer5)
c.1829del
c.4369del (p.Leu1457SerfsTer5)
c.2929del (p.Leu977SerfsTer5)
c.4282del (p.Leu1428SerfsTer5)
c.2657del
c.4378del (p.Leu1460SerfsTer5)
c.2736del
n.865del
c.3795del
c.3009del
c.3044del
c.3026del
c.2860del (p.Leu954SerfsTer5)
c.921del
c.70del (p.Leu24SerfsTer5)
c.2283del (n.2283del)
c.2715del
c.2220del (n.2220del)
c.2672del
n.875del
c.2626del (p.Leu876SerfsTer5)
c.4474del (p.Leu1492SerfsTer5)
n.686del
n.2810del
n.2345del
n.2195del
c.4381del (p.Leu1461SerfsTer5)
n.4762del
19g.11041507_11041508insACACCCAACA2813597156SMARCA4c.4467_4468insACACCCAA (p.Leu1490ThrfsTer8)
c.4371_4372insACACCCAA (p.Leu1458ThrfsTer8)
c.4272_4273insACACCCAA (p.Leu1425ThrfsTer8)
c.538_539insACACCCAA
c.498_499insACACCCAA (p.Leu167ThrfsTer8)
c.312_313insACACCCAA (p.Leu105ThrfsTer8)
n.2612_2613insACACCCAA
c.2865_2866insACACCCAA (p.Leu956ThrfsTer8)
c.1828_1829insACACCCAA
c.4368_4369insACACCCAA (p.Leu1457ThrfsTer8)
c.2928_2929insACACCCAA (p.Leu977ThrfsTer8)
c.4281_4282insACACCCAA (p.Leu1428ThrfsTer8)
c.2656_2657insACACCCAA
c.4377_4378insACACCCAA (p.Leu1460ThrfsTer8)
c.2735_2736insACACCCAA
n.864_865insACACCCAA
c.3794_3795insACACCCAA
c.3008_3009insACACCCAA
c.3043_3044insACACCCAA
c.3025_3026insACACCCAA
c.2859_2860insACACCCAA (p.Leu954ThrfsTer8)
c.920_921insACACCCAA
c.69_70insACACCCAA (p.Leu24ThrfsTer8)
c.2282_2283insACACCCAA (n.2282_2283insACACCCAA)
c.2714_2715insACACCCAA
c.2219_2220insACACCCAA (n.2219_2220insACACCCAA)
c.2671_2672insACACCCAA
n.874_875insACACCCAA
c.2625_2626insACACCCAA (p.Leu876ThrfsTer8)
c.4473_4474insACACCCAA (p.Leu1492ThrfsTer8)
n.685_686insACACCCAA
n.2809_2810insACACCCAA
n.2344_2345insACACCCAA
n.2194_2195insACACCCAA
c.4380_4381insACACCCAA (p.Leu1461ThrfsTer8)
n.4761_4762insACACCCAA
19g.11041508C>ACA404074033SMARCA4c.4468C>A (p.Leu1490Ile)
c.4372C>A (p.Leu1458Ile)
c.4273C>A (p.Leu1425Ile)
c.539C>A
c.499C>A (p.Leu167Ile)
c.313C>A (p.Leu105Ile)
n.2613C>A
c.2866C>A (p.Leu956Ile)
c.1829C>A
c.4369C>A (p.Leu1457Ile)
c.2929C>A (p.Leu977Ile)
c.4282C>A (p.Leu1428Ile)
c.2657C>A
c.4378C>A (p.Leu1460Ile)
c.2736C>A
n.865C>A
c.3795C>A
c.3009C>A
c.3044C>A
c.3026C>A
c.2860C>A (p.Leu954Ile)
c.921C>A
c.70C>A (p.Leu24Ile)
c.2283C>A (n.2283C>A)
c.2715C>A
c.2220C>A (n.2220C>A)
c.2672C>A
n.875C>A
c.2626C>A (p.Leu876Ile)
c.4474C>A (p.Leu1492Ile)
n.686C>A
n.2810C>A
n.2345C>A
n.2195C>A
c.4381C>A (p.Leu1461Ile)
n.4762C>A
 dbSNP gnomAD v4
19g.11041508C=CA2322735095SMARCA4c.4468C= (p.Leu1490=)
c.4372C= (p.Leu1458=)
c.4273C= (p.Leu1425=)
c.539C=
c.499C= (p.Leu167=)
c.313C= (p.Leu105=)
n.2613C=
c.2866C= (p.Leu956=)
c.1829C=
c.4369C= (p.Leu1457=)
c.2929C= (p.Leu977=)
c.4282C= (p.Leu1428=)
c.2657C=
c.4378C= (p.Leu1460=)
c.2736C=
n.865C=
c.3795C=
c.3009C=
c.3044C=
c.3026C=
c.2860C= (p.Leu954=)
c.921C=
c.70C= (p.Leu24=)
c.2283C= (n.2283C=)
c.2715C=
c.2220C= (n.2220C=)
c.2672C=
n.875C=
c.2626C= (p.Leu876=)
c.4474C= (p.Leu1492=)
n.686C=
n.2810C=
n.2345C=
n.2195C=
c.4381C= (p.Leu1461=)
n.4762C=
19g.11041508C>GCA404074034SMARCA4c.4468C>G (p.Leu1490Val)
c.4372C>G (p.Leu1458Val)
c.4273C>G (p.Leu1425Val)
c.539C>G
c.499C>G (p.Leu167Val)
c.313C>G (p.Leu105Val)
n.2613C>G
c.2866C>G (p.Leu956Val)
c.1829C>G
c.4369C>G (p.Leu1457Val)
c.2929C>G (p.Leu977Val)
c.4282C>G (p.Leu1428Val)
c.2657C>G
c.4378C>G (p.Leu1460Val)
c.2736C>G
n.865C>G
c.3795C>G
c.3009C>G
c.3044C>G
c.3026C>G
c.2860C>G (p.Leu954Val)
c.921C>G
c.70C>G (p.Leu24Val)
c.2283C>G (n.2283C>G)
c.2715C>G
c.2220C>G (n.2220C>G)
c.2672C>G
n.875C>G
c.2626C>G (p.Leu876Val)
c.4474C>G (p.Leu1492Val)
n.686C>G
n.2810C>G
n.2345C>G
n.2195C>G
c.4381C>G (p.Leu1461Val)
n.4762C>G
 ClinVar dbSNP
19g.11041508C>TCA404074032SMARCA4c.4468C>T (p.Leu1490Phe)
c.4372C>T (p.Leu1458Phe)
c.4273C>T (p.Leu1425Phe)
c.539C>T
c.499C>T (p.Leu167Phe)
c.313C>T (p.Leu105Phe)
n.2613C>T
c.2866C>T (p.Leu956Phe)
c.1829C>T
c.4369C>T (p.Leu1457Phe)
c.2929C>T (p.Leu977Phe)
c.4282C>T (p.Leu1428Phe)
c.2657C>T
c.4378C>T (p.Leu1460Phe)
c.2736C>T
n.865C>T
c.3795C>T
c.3009C>T
c.3044C>T
c.3026C>T
c.2860C>T (p.Leu954Phe)
c.921C>T
c.70C>T (p.Leu24Phe)
c.2283C>T (n.2283C>T)
c.2715C>T
c.2220C>T (n.2220C>T)
c.2672C>T
n.875C>T
c.2626C>T (p.Leu876Phe)
c.4474C>T (p.Leu1492Phe)
n.686C>T
n.2810C>T
n.2345C>T
n.2195C>T
c.4381C>T (p.Leu1461Phe)
n.4762C>T
 ClinVar dbSNP gnomAD v4

Number of alleles fetched