| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.11041337_11041348del | CA2582467039 | SMARCA4 | c.4297_4308del (p.Glu1433_Val1436del) c.4201_4212del (p.Glu1401_Val1404del) c.4102_4113del (p.Glu1368_Val1371del) c.368_379del c.328_339del (p.Glu110_Val113del) c.142_153del (p.Glu48_Val51del) n.2442_2453del c.2695_2706del (p.Glu899_Val902del) c.1658_1669del c.4198_4209del (p.Glu1400_Val1403del) c.2758_2769del (p.Glu920_Val923del) c.4111_4122del (p.Glu1371_Val1374del) c.2486_2497del c.4207_4218del (p.Glu1403_Val1406del) c.2565_2576del n.694_705del c.3624_3635del c.2838_2849del c.2873_2884del c.2855_2866del c.2689_2700del (p.Glu897_Val900del) c.750_761del c.2112_2123del (n.2112_2123del) c.2544_2555del c.2049_2060del (n.2049_2060del) c.2501_2512del n.704_715del c.2455_2466del (p.Glu819_Val822del) c.4303_4314del (p.Glu1435_Val1438del) n.515_526del n.2639_2650del n.2174_2185del c.280_291del (p.Glu94_Val97del) n.2024_2035del c.4210_4221del (p.Glu1404_Val1407del) n.4591_4602del | gnomAD v4 |
| 19 | g.11041336_11041337delinsAC | CA2580096235 | SMARCA4 | c.4296_4297delinsAC (p.Glu1433Gln) c.4200_4201delinsAC (p.Glu1401Gln) c.4101_4102delinsAC (p.Glu1368Gln) c.367_368delinsAC c.327_328delinsAC (p.Glu110Gln) c.141_142delinsAC (p.Glu48Gln) n.2441_2442delinsAC c.2694_2695delinsAC (p.Glu899Gln) c.1657_1658delinsAC c.4197_4198delinsAC (p.Glu1400Gln) c.2757_2758delinsAC (p.Glu920Gln) c.4110_4111delinsAC (p.Glu1371Gln) c.2485_2486delinsAC c.4206_4207delinsAC (p.Glu1403Gln) c.2564_2565delinsAC n.693_694delinsAC c.3623_3624delinsAC c.2837_2838delinsAC c.2872_2873delinsAC c.2854_2855delinsAC c.2688_2689delinsAC (p.Glu897Gln) c.749_750delinsAC c.2111_2112delinsAC (n.2111_2112delinsAC) c.2543_2544delinsAC c.2048_2049delinsAC (n.2048_2049delinsAC) c.2500_2501delinsAC n.703_704delinsAC c.2454_2455delinsAC (p.Glu819Gln) c.4302_4303delinsAC (p.Glu1435Gln) n.514_515delinsAC n.2638_2639delinsAC n.2173_2174delinsAC c.279_280delinsAC (p.Glu94Gln) n.2023_2024delinsAC c.4209_4210delinsAC (p.Glu1404Gln) n.4590_4591delinsAC | ClinVar |
| 19 | g.11041337G>A | CA9204675 | SMARCA4 | c.4297G>A (p.Glu1433Lys) c.4201G>A (p.Glu1401Lys) c.4102G>A (p.Glu1368Lys) c.368G>A c.328G>A (p.Glu110Lys) c.142G>A (p.Glu48Lys) n.2442G>A c.2695G>A (p.Glu899Lys) c.1658G>A c.4198G>A (p.Glu1400Lys) c.2758G>A (p.Glu920Lys) c.4111G>A (p.Glu1371Lys) c.2486G>A c.4207G>A (p.Glu1403Lys) c.2565G>A n.694G>A c.3624G>A c.2838G>A c.2873G>A c.2855G>A c.2689G>A (p.Glu897Lys) c.750G>A c.2112G>A (n.2112G>A) c.2544G>A c.2049G>A (n.2049G>A) c.2501G>A n.704G>A c.2455G>A (p.Glu819Lys) c.4303G>A (p.Glu1435Lys) n.515G>A n.2639G>A n.2174G>A c.280G>A (p.Glu94Lys) n.2024G>A c.4210G>A (p.Glu1404Lys) n.4591G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 19 | g.11041337G>C | CA404072827 | SMARCA4 | c.4297G>C (p.Glu1433Gln) c.4201G>C (p.Glu1401Gln) c.4102G>C (p.Glu1368Gln) c.368G>C c.328G>C (p.Glu110Gln) c.142G>C (p.Glu48Gln) n.2442G>C c.2695G>C (p.Glu899Gln) c.1658G>C c.4198G>C (p.Glu1400Gln) c.2758G>C (p.Glu920Gln) c.4111G>C (p.Glu1371Gln) c.2486G>C c.4207G>C (p.Glu1403Gln) c.2565G>C n.694G>C c.3624G>C c.2838G>C c.2873G>C c.2855G>C c.2689G>C (p.Glu897Gln) c.750G>C c.2112G>C (n.2112G>C) c.2544G>C c.2049G>C (n.2049G>C) c.2501G>C n.704G>C c.2455G>C (p.Glu819Gln) c.4303G>C (p.Glu1435Gln) n.515G>C n.2639G>C n.2174G>C c.280G>C (p.Glu94Gln) n.2024G>C c.4210G>C (p.Glu1404Gln) n.4591G>C | dbSNP |
| 19 | g.11041337G= | CA2322735084 | SMARCA4 | c.4297G= (p.Glu1433=) c.4201G= (p.Glu1401=) c.4102G= (p.Glu1368=) c.368G= c.328G= (p.Glu110=) c.142G= (p.Glu48=) n.2442G= c.2695G= (p.Glu899=) c.1658G= c.4198G= (p.Glu1400=) c.2758G= (p.Glu920=) c.4111G= (p.Glu1371=) c.2486G= c.4207G= (p.Glu1403=) c.2565G= n.694G= c.3624G= c.2838G= c.2873G= c.2855G= c.2689G= (p.Glu897=) c.750G= c.2112G= (n.2112G=) c.2544G= c.2049G= (n.2049G=) c.2501G= n.704G= c.2455G= (p.Glu819=) c.4303G= (p.Glu1435=) n.515G= n.2639G= n.2174G= c.280G= (p.Glu94=) n.2024G= c.4210G= (p.Glu1404=) n.4591G= | |
| 19 | g.11041337G>T | CA404072824 | SMARCA4 | c.4297G>T (p.Glu1433Ter) c.4201G>T (p.Glu1401Ter) c.4102G>T (p.Glu1368Ter) c.368G>T c.328G>T (p.Glu110Ter) c.142G>T (p.Glu48Ter) n.2442G>T c.2695G>T (p.Glu899Ter) c.1658G>T c.4198G>T (p.Glu1400Ter) c.2758G>T (p.Glu920Ter) c.4111G>T (p.Glu1371Ter) c.2486G>T c.4207G>T (p.Glu1403Ter) c.2565G>T n.694G>T c.3624G>T c.2838G>T c.2873G>T c.2855G>T c.2689G>T (p.Glu897Ter) c.750G>T c.2112G>T (n.2112G>T) c.2544G>T c.2049G>T (n.2049G>T) c.2501G>T n.704G>T c.2455G>T (p.Glu819Ter) c.4303G>T (p.Glu1435Ter) n.515G>T n.2639G>T n.2174G>T c.280G>T (p.Glu94Ter) n.2024G>T c.4210G>T (p.Glu1404Ter) n.4591G>T | gnomAD v4 |
| 19 | g.11041337_11041338insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT | CA2510606887 | SMARCA4 | c.4297_4298insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT (p.Glu1433ValfsTer?) c.4201_4202insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT (p.Glu1401ValfsTer?) c.4102_4103insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT (p.Glu1368ValfsTer?) c.368_369insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT c.328_329insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT (p.Glu110ValfsTer?) c.142_143insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT (p.Glu48ValfsTer?) n.2442_2443insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT c.2695_2696insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT (p.Glu899ValfsTer?) c.1658_1659insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT c.4198_4199insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT (p.Glu1400ValfsTer?) c.2758_2759insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT (p.Glu920ValfsTer?) c.4111_4112insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT (p.Glu1371ValfsTer?) c.2486_2487insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT c.4207_4208insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT (p.Glu1403ValfsTer?) c.2565_2566insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT n.694_695insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT c.3624_3625insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT c.2838_2839insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT c.2873_2874insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT c.2855_2856insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT c.2689_2690insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT (p.Glu897ValfsTer?) c.750_751insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT c.2112_2113insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT (n.2112_2113insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT) c.2544_2545insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT c.2049_2050insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT (n.2049_2050insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT) c.2501_2502insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT n.704_705insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT c.2455_2456insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT (p.Glu819ValfsTer?) c.4303_4304insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT (p.Glu1435ValfsTer?) n.515_516insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT n.2639_2640insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT n.2174_2175insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT c.280_281insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT (p.Glu94ValfsTer?) n.2024_2025insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT c.4210_4211insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT (p.Glu1404ValfsTer?) n.4591_4592insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT | |
| 19 | g.11041338A>C | CA404072830 | SMARCA4 | c.4298A>C (p.Glu1433Ala) c.4202A>C (p.Glu1401Ala) c.4103A>C (p.Glu1368Ala) c.369A>C c.329A>C (p.Glu110Ala) c.143A>C (p.Glu48Ala) n.2443A>C c.2696A>C (p.Glu899Ala) c.1659A>C c.4199A>C (p.Glu1400Ala) c.2759A>C (p.Glu920Ala) c.4112A>C (p.Glu1371Ala) c.2487A>C c.4208A>C (p.Glu1403Ala) c.2566A>C n.695A>C c.3625A>C c.2839A>C c.2874A>C c.2856A>C c.2690A>C (p.Glu897Ala) c.751A>C c.2113A>C (n.2113A>C) c.2545A>C c.2050A>C (n.2050A>C) c.2502A>C n.705A>C c.2456A>C (p.Glu819Ala) c.4304A>C (p.Glu1435Ala) n.516A>C n.2640A>C n.2175A>C c.281A>C (p.Glu94Ala) n.2025A>C c.4211A>C (p.Glu1404Ala) n.4592A>C | |
| 19 | g.11041338A>G | CA404072831 | SMARCA4 | c.4298A>G (p.Glu1433Gly) c.4202A>G (p.Glu1401Gly) c.4103A>G (p.Glu1368Gly) c.369A>G c.329A>G (p.Glu110Gly) c.143A>G (p.Glu48Gly) n.2443A>G c.2696A>G (p.Glu899Gly) c.1659A>G c.4199A>G (p.Glu1400Gly) c.2759A>G (p.Glu920Gly) c.4112A>G (p.Glu1371Gly) c.2487A>G c.4208A>G (p.Glu1403Gly) c.2566A>G n.695A>G c.3625A>G c.2839A>G c.2874A>G c.2856A>G c.2690A>G (p.Glu897Gly) c.751A>G c.2113A>G (n.2113A>G) c.2545A>G c.2050A>G (n.2050A>G) c.2502A>G n.705A>G c.2456A>G (p.Glu819Gly) c.4304A>G (p.Glu1435Gly) n.516A>G n.2640A>G n.2175A>G c.281A>G (p.Glu94Gly) n.2025A>G c.4211A>G (p.Glu1404Gly) n.4592A>G | dbSNP |
| 19 | g.11041338A>T | CA404072833 | SMARCA4 | c.4298A>T (p.Glu1433Val) c.4202A>T (p.Glu1401Val) c.4103A>T (p.Glu1368Val) c.369A>T c.329A>T (p.Glu110Val) c.143A>T (p.Glu48Val) n.2443A>T c.2696A>T (p.Glu899Val) c.1659A>T c.4199A>T (p.Glu1400Val) c.2759A>T (p.Glu920Val) c.4112A>T (p.Glu1371Val) c.2487A>T c.4208A>T (p.Glu1403Val) c.2566A>T n.695A>T c.3625A>T c.2839A>T c.2874A>T c.2856A>T c.2690A>T (p.Glu897Val) c.751A>T c.2113A>T (n.2113A>T) c.2545A>T c.2050A>T (n.2050A>T) c.2502A>T n.705A>T c.2456A>T (p.Glu819Val) c.4304A>T (p.Glu1435Val) n.516A>T n.2640A>T n.2175A>T c.281A>T (p.Glu94Val) n.2025A>T c.4211A>T (p.Glu1404Val) n.4592A>T | dbSNP |
| 19 | g.11041339A>C | CA404072834 | SMARCA4 | c.4299A>C (p.Glu1433Asp) c.4203A>C (p.Glu1401Asp) c.4104A>C (p.Glu1368Asp) c.370A>C c.330A>C (p.Glu110Asp) c.144A>C (p.Glu48Asp) n.2444A>C c.2697A>C (p.Glu899Asp) c.1660A>C c.4200A>C (p.Glu1400Asp) c.2760A>C (p.Glu920Asp) c.4113A>C (p.Glu1371Asp) c.2488A>C c.4209A>C (p.Glu1403Asp) c.2567A>C n.696A>C c.3626A>C c.2840A>C c.2875A>C c.2857A>C c.2691A>C (p.Glu897Asp) c.752A>C c.2114A>C (n.2114A>C) c.2546A>C c.2051A>C (n.2051A>C) c.2503A>C n.706A>C c.2457A>C (p.Glu819Asp) c.4305A>C (p.Glu1435Asp) n.517A>C n.2641A>C n.2176A>C c.282A>C (p.Glu94Asp) n.2026A>C c.4212A>C (p.Glu1404Asp) n.4593A>C | |
| 19 | g.11041339A>G | CA505743792 | SMARCA4 | c.4299A>G (p.Glu1433=) c.4203A>G (p.Glu1401=) c.4104A>G (p.Glu1368=) c.370A>G c.330A>G (p.Glu110=) c.144A>G (p.Glu48=) n.2444A>G c.2697A>G (p.Glu899=) c.1660A>G c.4200A>G (p.Glu1400=) c.2760A>G (p.Glu920=) c.4113A>G (p.Glu1371=) c.2488A>G c.4209A>G (p.Glu1403=) c.2567A>G n.696A>G c.3626A>G c.2840A>G c.2875A>G c.2857A>G c.2691A>G (p.Glu897=) c.752A>G c.2114A>G (n.2114A>G) c.2546A>G c.2051A>G (n.2051A>G) c.2503A>G n.706A>G c.2457A>G (p.Glu819=) c.4305A>G (p.Glu1435=) n.517A>G n.2641A>G n.2176A>G c.282A>G (p.Glu94=) n.2026A>G c.4212A>G (p.Glu1404=) n.4593A>G | dbSNP |
| 19 | g.11041339A>T | CA404072835 | SMARCA4 | c.4299A>T (p.Glu1433Asp) c.4203A>T (p.Glu1401Asp) c.4104A>T (p.Glu1368Asp) c.370A>T c.330A>T (p.Glu110Asp) c.144A>T (p.Glu48Asp) n.2444A>T c.2697A>T (p.Glu899Asp) c.1660A>T c.4200A>T (p.Glu1400Asp) c.2760A>T (p.Glu920Asp) c.4113A>T (p.Glu1371Asp) c.2488A>T c.4209A>T (p.Glu1403Asp) c.2567A>T n.696A>T c.3626A>T c.2840A>T c.2875A>T c.2857A>T c.2691A>T (p.Glu897Asp) c.752A>T c.2114A>T (n.2114A>T) c.2546A>T c.2051A>T (n.2051A>T) c.2503A>T n.706A>T c.2457A>T (p.Glu819Asp) c.4305A>T (p.Glu1435Asp) n.517A>T n.2641A>T n.2176A>T c.282A>T (p.Glu94Asp) n.2026A>T c.4212A>T (p.Glu1404Asp) n.4593A>T | dbSNP |
| 19 | g.11041340G>A | CA404072836 | SMARCA4 | c.4300G>A (p.Glu1434Lys) c.4204G>A (p.Glu1402Lys) c.4105G>A (p.Glu1369Lys) c.371G>A c.331G>A (p.Glu111Lys) c.145G>A (p.Glu49Lys) n.2445G>A c.2698G>A (p.Glu900Lys) c.1661G>A c.4201G>A (p.Glu1401Lys) c.2761G>A (p.Glu921Lys) c.4114G>A (p.Glu1372Lys) c.2489G>A c.4210G>A (p.Glu1404Lys) c.2568G>A n.697G>A c.3627G>A c.2841G>A c.2876G>A c.2858G>A c.2692G>A (p.Glu898Lys) c.753G>A c.2115G>A (n.2115G>A) c.2547G>A c.2052G>A (n.2052G>A) c.2504G>A n.707G>A c.2458G>A (p.Glu820Lys) c.4306G>A (p.Glu1436Lys) n.518G>A n.2642G>A n.2177G>A c.283G>A (p.Glu95Lys) n.2027G>A c.4213G>A (p.Glu1405Lys) n.4594G>A | ClinVar dbSNP |
| 19 | g.11041340G>C | CA404072837 | SMARCA4 | c.4300G>C (p.Glu1434Gln) c.4204G>C (p.Glu1402Gln) c.4105G>C (p.Glu1369Gln) c.371G>C c.331G>C (p.Glu111Gln) c.145G>C (p.Glu49Gln) n.2445G>C c.2698G>C (p.Glu900Gln) c.1661G>C c.4201G>C (p.Glu1401Gln) c.2761G>C (p.Glu921Gln) c.4114G>C (p.Glu1372Gln) c.2489G>C c.4210G>C (p.Glu1404Gln) c.2568G>C n.697G>C c.3627G>C c.2841G>C c.2876G>C c.2858G>C c.2692G>C (p.Glu898Gln) c.753G>C c.2115G>C (n.2115G>C) c.2547G>C c.2052G>C (n.2052G>C) c.2504G>C n.707G>C c.2458G>C (p.Glu820Gln) c.4306G>C (p.Glu1436Gln) n.518G>C n.2642G>C n.2177G>C c.283G>C (p.Glu95Gln) n.2027G>C c.4213G>C (p.Glu1405Gln) n.4594G>C | dbSNP |
| 19 | g.11041340G>T | CA404072838 | SMARCA4 | c.4300G>T (p.Glu1434Ter) c.4204G>T (p.Glu1402Ter) c.4105G>T (p.Glu1369Ter) c.371G>T c.331G>T (p.Glu111Ter) c.145G>T (p.Glu49Ter) n.2445G>T c.2698G>T (p.Glu900Ter) c.1661G>T c.4201G>T (p.Glu1401Ter) c.2761G>T (p.Glu921Ter) c.4114G>T (p.Glu1372Ter) c.2489G>T c.4210G>T (p.Glu1404Ter) c.2568G>T n.697G>T c.3627G>T c.2841G>T c.2876G>T c.2858G>T c.2692G>T (p.Glu898Ter) c.753G>T c.2115G>T (n.2115G>T) c.2547G>T c.2052G>T (n.2052G>T) c.2504G>T n.707G>T c.2458G>T (p.Glu820Ter) c.4306G>T (p.Glu1436Ter) n.518G>T n.2642G>T n.2177G>T c.283G>T (p.Glu95Ter) n.2027G>T c.4213G>T (p.Glu1405Ter) n.4594G>T | |
| 19 | g.11041341A>C | CA404072840 | SMARCA4 | c.4301A>C (p.Glu1434Ala) c.4205A>C (p.Glu1402Ala) c.4106A>C (p.Glu1369Ala) c.372A>C c.332A>C (p.Glu111Ala) c.146A>C (p.Glu49Ala) n.2446A>C c.2699A>C (p.Glu900Ala) c.1662A>C c.4202A>C (p.Glu1401Ala) c.2762A>C (p.Glu921Ala) c.4115A>C (p.Glu1372Ala) c.2490A>C c.4211A>C (p.Glu1404Ala) c.2569A>C n.698A>C c.3628A>C c.2842A>C c.2877A>C c.2859A>C c.2693A>C (p.Glu898Ala) c.754A>C c.2116A>C (n.2116A>C) c.2548A>C c.2053A>C (n.2053A>C) c.2505A>C n.708A>C c.2459A>C (p.Glu820Ala) c.4307A>C (p.Glu1436Ala) n.519A>C n.2643A>C n.2178A>C c.284A>C (p.Glu95Ala) n.2028A>C c.4214A>C (p.Glu1405Ala) n.4595A>C | |
| 19 | g.11041341A>G | CA404072842 | SMARCA4 | c.4301A>G (p.Glu1434Gly) c.4205A>G (p.Glu1402Gly) c.4106A>G (p.Glu1369Gly) c.372A>G c.332A>G (p.Glu111Gly) c.146A>G (p.Glu49Gly) n.2446A>G c.2699A>G (p.Glu900Gly) c.1662A>G c.4202A>G (p.Glu1401Gly) c.2762A>G (p.Glu921Gly) c.4115A>G (p.Glu1372Gly) c.2490A>G c.4211A>G (p.Glu1404Gly) c.2569A>G n.698A>G c.3628A>G c.2842A>G c.2877A>G c.2859A>G c.2693A>G (p.Glu898Gly) c.754A>G c.2116A>G (n.2116A>G) c.2548A>G c.2053A>G (n.2053A>G) c.2505A>G n.708A>G c.2459A>G (p.Glu820Gly) c.4307A>G (p.Glu1436Gly) n.519A>G n.2643A>G n.2178A>G c.284A>G (p.Glu95Gly) n.2028A>G c.4214A>G (p.Glu1405Gly) n.4595A>G | |
| 19 | g.11041341A>T | CA404072844 | SMARCA4 | c.4301A>T (p.Glu1434Val) c.4205A>T (p.Glu1402Val) c.4106A>T (p.Glu1369Val) c.372A>T c.332A>T (p.Glu111Val) c.146A>T (p.Glu49Val) n.2446A>T c.2699A>T (p.Glu900Val) c.1662A>T c.4202A>T (p.Glu1401Val) c.2762A>T (p.Glu921Val) c.4115A>T (p.Glu1372Val) c.2490A>T c.4211A>T (p.Glu1404Val) c.2569A>T n.698A>T c.3628A>T c.2842A>T c.2877A>T c.2859A>T c.2693A>T (p.Glu898Val) c.754A>T c.2116A>T (n.2116A>T) c.2548A>T c.2053A>T (n.2053A>T) c.2505A>T n.708A>T c.2459A>T (p.Glu820Val) c.4307A>T (p.Glu1436Val) n.519A>T n.2643A>T n.2178A>T c.284A>T (p.Glu95Val) n.2028A>T c.4214A>T (p.Glu1405Val) n.4595A>T | |
| 19 | g.11041342G>A | CA505743793 | SMARCA4 | c.4302G>A (p.Glu1434=) c.4206G>A (p.Glu1402=) c.4107G>A (p.Glu1369=) c.373G>A c.333G>A (p.Glu111=) c.147G>A (p.Glu49=) n.2447G>A c.2700G>A (p.Glu900=) c.1663G>A c.4203G>A (p.Glu1401=) c.2763G>A (p.Glu921=) c.4116G>A (p.Glu1372=) c.2491G>A c.4212G>A (p.Glu1404=) c.2570G>A n.699G>A c.3629G>A c.2843G>A c.2878G>A c.2860G>A c.2694G>A (p.Glu898=) c.755G>A c.2117G>A (n.2117G>A) c.2549G>A c.2054G>A (n.2054G>A) c.2506G>A n.709G>A c.2460G>A (p.Glu820=) c.4308G>A (p.Glu1436=) n.520G>A n.2644G>A n.2179G>A c.285G>A (p.Glu95=) n.2029G>A c.4215G>A (p.Glu1405=) n.4596G>A | ClinVar dbSNP gnomAD v4 |
| 19 | g.11041342G>C | CA404072846 | SMARCA4 | c.4302G>C (p.Glu1434Asp) c.4206G>C (p.Glu1402Asp) c.4107G>C (p.Glu1369Asp) c.373G>C c.333G>C (p.Glu111Asp) c.147G>C (p.Glu49Asp) n.2447G>C c.2700G>C (p.Glu900Asp) c.1663G>C c.4203G>C (p.Glu1401Asp) c.2763G>C (p.Glu921Asp) c.4116G>C (p.Glu1372Asp) c.2491G>C c.4212G>C (p.Glu1404Asp) c.2570G>C n.699G>C c.3629G>C c.2843G>C c.2878G>C c.2860G>C c.2694G>C (p.Glu898Asp) c.755G>C c.2117G>C (n.2117G>C) c.2549G>C c.2054G>C (n.2054G>C) c.2506G>C n.709G>C c.2460G>C (p.Glu820Asp) c.4308G>C (p.Glu1436Asp) n.520G>C n.2644G>C n.2179G>C c.285G>C (p.Glu95Asp) n.2029G>C c.4215G>C (p.Glu1405Asp) n.4596G>C | dbSNP |
| 19 | g.11041342G= | CA2322735086 | SMARCA4 | c.4302G= (p.Glu1434=) c.4206G= (p.Glu1402=) c.4107G= (p.Glu1369=) c.373G= c.333G= (p.Glu111=) c.147G= (p.Glu49=) n.2447G= c.2700G= (p.Glu900=) c.1663G= c.4203G= (p.Glu1401=) c.2763G= (p.Glu921=) c.4116G= (p.Glu1372=) c.2491G= c.4212G= (p.Glu1404=) c.2570G= n.699G= c.3629G= c.2843G= c.2878G= c.2860G= c.2694G= (p.Glu898=) c.755G= c.2117G= (n.2117G=) c.2549G= c.2054G= (n.2054G=) c.2506G= n.709G= c.2460G= (p.Glu820=) c.4308G= (p.Glu1436=) n.520G= n.2644G= n.2179G= c.285G= (p.Glu95=) n.2029G= c.4215G= (p.Glu1405=) n.4596G= | |
| 19 | g.11041342G>T | CA404072857 | SMARCA4 | c.4302G>T (p.Glu1434Asp) c.4206G>T (p.Glu1402Asp) c.4107G>T (p.Glu1369Asp) c.373G>T c.333G>T (p.Glu111Asp) c.147G>T (p.Glu49Asp) n.2447G>T c.2700G>T (p.Glu900Asp) c.1663G>T c.4203G>T (p.Glu1401Asp) c.2763G>T (p.Glu921Asp) c.4116G>T (p.Glu1372Asp) c.2491G>T c.4212G>T (p.Glu1404Asp) c.2570G>T n.699G>T c.3629G>T c.2843G>T c.2878G>T c.2860G>T c.2694G>T (p.Glu898Asp) c.755G>T c.2117G>T (n.2117G>T) c.2549G>T c.2054G>T (n.2054G>T) c.2506G>T n.709G>T c.2460G>T (p.Glu820Asp) c.4308G>T (p.Glu1436Asp) n.520G>T n.2644G>T n.2179G>T c.285G>T (p.Glu95Asp) n.2029G>T c.4215G>T (p.Glu1405Asp) n.4596G>T | |
| 19 | g.11041343G>A | CA10583753 | SMARCA4 | c.4303G>A (p.Glu1435Lys) c.4207G>A (p.Glu1403Lys) c.4108G>A (p.Glu1370Lys) c.374G>A c.334G>A (p.Glu112Lys) c.148G>A (p.Glu50Lys) n.2448G>A c.2701G>A (p.Glu901Lys) c.1664G>A c.4204G>A (p.Glu1402Lys) c.2764G>A (p.Glu922Lys) c.4117G>A (p.Glu1373Lys) c.2492G>A c.4213G>A (p.Glu1405Lys) c.2571G>A n.700G>A c.3630G>A c.2844G>A c.2879G>A c.2861G>A c.2695G>A (p.Glu899Lys) c.756G>A c.2118G>A (n.2118G>A) c.2550G>A c.2055G>A (n.2055G>A) c.2507G>A n.710G>A c.2461G>A (p.Glu821Lys) c.4309G>A (p.Glu1437Lys) n.521G>A n.2645G>A n.2180G>A c.286G>A (p.Glu96Lys) n.2030G>A c.4216G>A (p.Glu1406Lys) n.4597G>A | ClinVar dbSNP |
| 19 | g.11041343G>C | CA404072871 | SMARCA4 | c.4303G>C (p.Glu1435Gln) c.4207G>C (p.Glu1403Gln) c.4108G>C (p.Glu1370Gln) c.374G>C c.334G>C (p.Glu112Gln) c.148G>C (p.Glu50Gln) n.2448G>C c.2701G>C (p.Glu901Gln) c.1664G>C c.4204G>C (p.Glu1402Gln) c.2764G>C (p.Glu922Gln) c.4117G>C (p.Glu1373Gln) c.2492G>C c.4213G>C (p.Glu1405Gln) c.2571G>C n.700G>C c.3630G>C c.2844G>C c.2879G>C c.2861G>C c.2695G>C (p.Glu899Gln) c.756G>C c.2118G>C (n.2118G>C) c.2550G>C c.2055G>C (n.2055G>C) c.2507G>C n.710G>C c.2461G>C (p.Glu821Gln) c.4309G>C (p.Glu1437Gln) n.521G>C n.2645G>C n.2180G>C c.286G>C (p.Glu96Gln) n.2030G>C c.4216G>C (p.Glu1406Gln) n.4597G>C | dbSNP |
| 19 | g.11041343G= | CA2322735088 | SMARCA4 | c.4303G= (p.Glu1435=) c.4207G= (p.Glu1403=) c.4108G= (p.Glu1370=) c.374G= c.334G= (p.Glu112=) c.148G= (p.Glu50=) n.2448G= c.2701G= (p.Glu901=) c.1664G= c.4204G= (p.Glu1402=) c.2764G= (p.Glu922=) c.4117G= (p.Glu1373=) c.2492G= c.4213G= (p.Glu1405=) c.2571G= n.700G= c.3630G= c.2844G= c.2879G= c.2861G= c.2695G= (p.Glu899=) c.756G= c.2118G= (n.2118G=) c.2550G= c.2055G= (n.2055G=) c.2507G= n.710G= c.2461G= (p.Glu821=) c.4309G= (p.Glu1437=) n.521G= n.2645G= n.2180G= c.286G= (p.Glu96=) n.2030G= c.4216G= (p.Glu1406=) n.4597G= | |
| 19 | g.11041343G>T | CA404072866 | SMARCA4 | c.4303G>T (p.Glu1435Ter) c.4207G>T (p.Glu1403Ter) c.4108G>T (p.Glu1370Ter) c.374G>T c.334G>T (p.Glu112Ter) c.148G>T (p.Glu50Ter) n.2448G>T c.2701G>T (p.Glu901Ter) c.1664G>T c.4204G>T (p.Glu1402Ter) c.2764G>T (p.Glu922Ter) c.4117G>T (p.Glu1373Ter) c.2492G>T c.4213G>T (p.Glu1405Ter) c.2571G>T n.700G>T c.3630G>T c.2844G>T c.2879G>T c.2861G>T c.2695G>T (p.Glu899Ter) c.756G>T c.2118G>T (n.2118G>T) c.2550G>T c.2055G>T (n.2055G>T) c.2507G>T n.710G>T c.2461G>T (p.Glu821Ter) c.4309G>T (p.Glu1437Ter) n.521G>T n.2645G>T n.2180G>T c.286G>T (p.Glu96Ter) n.2030G>T c.4216G>T (p.Glu1406Ter) n.4597G>T | |
| 19 | g.11041344A>C | CA404072873 | SMARCA4 | c.4304A>C (p.Glu1435Ala) c.4208A>C (p.Glu1403Ala) c.4109A>C (p.Glu1370Ala) c.375A>C c.335A>C (p.Glu112Ala) c.149A>C (p.Glu50Ala) n.2449A>C c.2702A>C (p.Glu901Ala) c.1665A>C c.4205A>C (p.Glu1402Ala) c.2765A>C (p.Glu922Ala) c.4118A>C (p.Glu1373Ala) c.2493A>C c.4214A>C (p.Glu1405Ala) c.2572A>C n.701A>C c.3631A>C c.2845A>C c.2880A>C c.2862A>C c.2696A>C (p.Glu899Ala) c.757A>C c.2119A>C (n.2119A>C) c.2551A>C c.2056A>C (n.2056A>C) c.2508A>C n.711A>C c.2462A>C (p.Glu821Ala) c.4310A>C (p.Glu1437Ala) n.522A>C n.2646A>C n.2181A>C c.287A>C (p.Glu96Ala) n.2031A>C c.4217A>C (p.Glu1406Ala) n.4598A>C | dbSNP |
| 19 | g.11041344A>G | CA404072877 | SMARCA4 | c.4304A>G (p.Glu1435Gly) c.4208A>G (p.Glu1403Gly) c.4109A>G (p.Glu1370Gly) c.375A>G c.335A>G (p.Glu112Gly) c.149A>G (p.Glu50Gly) n.2449A>G c.2702A>G (p.Glu901Gly) c.1665A>G c.4205A>G (p.Glu1402Gly) c.2765A>G (p.Glu922Gly) c.4118A>G (p.Glu1373Gly) c.2493A>G c.4214A>G (p.Glu1405Gly) c.2572A>G n.701A>G c.3631A>G c.2845A>G c.2880A>G c.2862A>G c.2696A>G (p.Glu899Gly) c.757A>G c.2119A>G (n.2119A>G) c.2551A>G c.2056A>G (n.2056A>G) c.2508A>G n.711A>G c.2462A>G (p.Glu821Gly) c.4310A>G (p.Glu1437Gly) n.522A>G n.2646A>G n.2181A>G c.287A>G (p.Glu96Gly) n.2031A>G c.4217A>G (p.Glu1406Gly) n.4598A>G | dbSNP |
| 19 | g.11041344A>T | CA404072880 | SMARCA4 | c.4304A>T (p.Glu1435Val) c.4208A>T (p.Glu1403Val) c.4109A>T (p.Glu1370Val) c.375A>T c.335A>T (p.Glu112Val) c.149A>T (p.Glu50Val) n.2449A>T c.2702A>T (p.Glu901Val) c.1665A>T c.4205A>T (p.Glu1402Val) c.2765A>T (p.Glu922Val) c.4118A>T (p.Glu1373Val) c.2493A>T c.4214A>T (p.Glu1405Val) c.2572A>T n.701A>T c.3631A>T c.2845A>T c.2880A>T c.2862A>T c.2696A>T (p.Glu899Val) c.757A>T c.2119A>T (n.2119A>T) c.2551A>T c.2056A>T (n.2056A>T) c.2508A>T n.711A>T c.2462A>T (p.Glu821Val) c.4310A>T (p.Glu1437Val) n.522A>T n.2646A>T n.2181A>T c.287A>T (p.Glu96Val) n.2031A>T c.4217A>T (p.Glu1406Val) n.4598A>T | dbSNP |
| 19 | g.11041345G>A | CA505743794 | SMARCA4 | c.4305G>A (p.Glu1435=) c.4209G>A (p.Glu1403=) c.4110G>A (p.Glu1370=) c.376G>A c.336G>A (p.Glu112=) c.150G>A (p.Glu50=) n.2450G>A c.2703G>A (p.Glu901=) c.1666G>A c.4206G>A (p.Glu1402=) c.2766G>A (p.Glu922=) c.4119G>A (p.Glu1373=) c.2494G>A c.4215G>A (p.Glu1405=) c.2573G>A n.702G>A c.3632G>A c.2846G>A c.2881G>A c.2863G>A c.2697G>A (p.Glu899=) c.758G>A c.2120G>A (n.2120G>A) c.2552G>A c.2057G>A (n.2057G>A) c.2509G>A n.712G>A c.2463G>A (p.Glu821=) c.4311G>A (p.Glu1437=) n.523G>A n.2647G>A n.2182G>A c.288G>A (p.Glu96=) n.2032G>A c.4218G>A (p.Glu1406=) n.4599G>A | dbSNP |
| 19 | g.11041345G>C | CA404072884 | SMARCA4 | c.4305G>C (p.Glu1435Asp) c.4209G>C (p.Glu1403Asp) c.4110G>C (p.Glu1370Asp) c.376G>C c.336G>C (p.Glu112Asp) c.150G>C (p.Glu50Asp) n.2450G>C c.2703G>C (p.Glu901Asp) c.1666G>C c.4206G>C (p.Glu1402Asp) c.2766G>C (p.Glu922Asp) c.4119G>C (p.Glu1373Asp) c.2494G>C c.4215G>C (p.Glu1405Asp) c.2573G>C n.702G>C c.3632G>C c.2846G>C c.2881G>C c.2863G>C c.2697G>C (p.Glu899Asp) c.758G>C c.2120G>C (n.2120G>C) c.2552G>C c.2057G>C (n.2057G>C) c.2509G>C n.712G>C c.2463G>C (p.Glu821Asp) c.4311G>C (p.Glu1437Asp) n.523G>C n.2647G>C n.2182G>C c.288G>C (p.Glu96Asp) n.2032G>C c.4218G>C (p.Glu1406Asp) n.4599G>C | ClinVar dbSNP |
| 19 | g.11041345G= | CA2322734712 | SMARCA4 | c.4305G= (p.Glu1435=) c.4209G= (p.Glu1403=) c.4110G= (p.Glu1370=) c.376G= c.336G= (p.Glu112=) c.150G= (p.Glu50=) n.2450G= c.2703G= (p.Glu901=) c.1666G= c.4206G= (p.Glu1402=) c.2766G= (p.Glu922=) c.4119G= (p.Glu1373=) c.2494G= c.4215G= (p.Glu1405=) c.2573G= n.702G= c.3632G= c.2846G= c.2881G= c.2863G= c.2697G= (p.Glu899=) c.758G= c.2120G= (n.2120G=) c.2552G= c.2057G= (n.2057G=) c.2509G= n.712G= c.2463G= (p.Glu821=) c.4311G= (p.Glu1437=) n.523G= n.2647G= n.2182G= c.288G= (p.Glu96=) n.2032G= c.4218G= (p.Glu1406=) n.4599G= | |
| 19 | g.11041345G>T | CA404072891 | SMARCA4 | c.4305G>T (p.Glu1435Asp) c.4209G>T (p.Glu1403Asp) c.4110G>T (p.Glu1370Asp) c.376G>T c.336G>T (p.Glu112Asp) c.150G>T (p.Glu50Asp) n.2450G>T c.2703G>T (p.Glu901Asp) c.1666G>T c.4206G>T (p.Glu1402Asp) c.2766G>T (p.Glu922Asp) c.4119G>T (p.Glu1373Asp) c.2494G>T c.4215G>T (p.Glu1405Asp) c.2573G>T n.702G>T c.3632G>T c.2846G>T c.2881G>T c.2863G>T c.2697G>T (p.Glu899Asp) c.758G>T c.2120G>T (n.2120G>T) c.2552G>T c.2057G>T (n.2057G>T) c.2509G>T n.712G>T c.2463G>T (p.Glu821Asp) c.4311G>T (p.Glu1437Asp) n.523G>T n.2647G>T n.2182G>T c.288G>T (p.Glu96Asp) n.2032G>T c.4218G>T (p.Glu1406Asp) n.4599G>T | dbSNP |
| 19 | g.11041346G>A | CA404072900 | SMARCA4 | c.4306G>A (p.Val1436Ile) c.4210G>A (p.Val1404Ile) c.4111G>A (p.Val1371Ile) c.377G>A c.337G>A (p.Val113Ile) c.151G>A (p.Val51Ile) n.2451G>A c.2704G>A (p.Val902Ile) c.1667G>A c.4207G>A (p.Val1403Ile) c.2767G>A (p.Val923Ile) c.4120G>A (p.Val1374Ile) c.2495G>A c.4216G>A (p.Val1406Ile) c.2574G>A n.703G>A c.3633G>A c.2847G>A c.2882G>A c.2864G>A c.2698G>A (p.Val900Ile) c.759G>A c.2121G>A (n.2121G>A) c.2553G>A c.2058G>A (n.2058G>A) c.2510G>A n.713G>A c.2464G>A (p.Val822Ile) c.4312G>A (p.Val1438Ile) n.524G>A n.2648G>A n.2183G>A c.289G>A (p.Val97Ile) n.2033G>A c.4219G>A (p.Val1407Ile) n.4600G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.11041346G>C | CA404072901 | SMARCA4 | c.4306G>C (p.Val1436Leu) c.4210G>C (p.Val1404Leu) c.4111G>C (p.Val1371Leu) c.377G>C c.337G>C (p.Val113Leu) c.151G>C (p.Val51Leu) n.2451G>C c.2704G>C (p.Val902Leu) c.1667G>C c.4207G>C (p.Val1403Leu) c.2767G>C (p.Val923Leu) c.4120G>C (p.Val1374Leu) c.2495G>C c.4216G>C (p.Val1406Leu) c.2574G>C n.703G>C c.3633G>C c.2847G>C c.2882G>C c.2864G>C c.2698G>C (p.Val900Leu) c.759G>C c.2121G>C (n.2121G>C) c.2553G>C c.2058G>C (n.2058G>C) c.2510G>C n.713G>C c.2464G>C (p.Val822Leu) c.4312G>C (p.Val1438Leu) n.524G>C n.2648G>C n.2183G>C c.289G>C (p.Val97Leu) n.2033G>C c.4219G>C (p.Val1407Leu) n.4600G>C | dbSNP |
| 19 | g.11041346G= | CA2322734713 | SMARCA4 | c.4306G= (p.Val1436=) c.4210G= (p.Val1404=) c.4111G= (p.Val1371=) c.377G= c.337G= (p.Val113=) c.151G= (p.Val51=) n.2451G= c.2704G= (p.Val902=) c.1667G= c.4207G= (p.Val1403=) c.2767G= (p.Val923=) c.4120G= (p.Val1374=) c.2495G= c.4216G= (p.Val1406=) c.2574G= n.703G= c.3633G= c.2847G= c.2882G= c.2864G= c.2698G= (p.Val900=) c.759G= c.2121G= (n.2121G=) c.2553G= c.2058G= (n.2058G=) c.2510G= n.713G= c.2464G= (p.Val822=) c.4312G= (p.Val1438=) n.524G= n.2648G= n.2183G= c.289G= (p.Val97=) n.2033G= c.4219G= (p.Val1407=) n.4600G= | |
| 19 | g.11041346G>T | CA404072902 | SMARCA4 | c.4306G>T (p.Val1436Phe) c.4210G>T (p.Val1404Phe) c.4111G>T (p.Val1371Phe) c.377G>T c.337G>T (p.Val113Phe) c.151G>T (p.Val51Phe) n.2451G>T c.2704G>T (p.Val902Phe) c.1667G>T c.4207G>T (p.Val1403Phe) c.2767G>T (p.Val923Phe) c.4120G>T (p.Val1374Phe) c.2495G>T c.4216G>T (p.Val1406Phe) c.2574G>T n.703G>T c.3633G>T c.2847G>T c.2882G>T c.2864G>T c.2698G>T (p.Val900Phe) c.759G>T c.2121G>T (n.2121G>T) c.2553G>T c.2058G>T (n.2058G>T) c.2510G>T n.713G>T c.2464G>T (p.Val822Phe) c.4312G>T (p.Val1438Phe) n.524G>T n.2648G>T n.2183G>T c.289G>T (p.Val97Phe) n.2033G>T c.4219G>T (p.Val1407Phe) n.4600G>T | ClinVar dbSNP |
| 19 | g.11041347T>A | CA404072905 | SMARCA4 | c.4307T>A (p.Val1436Asp) c.4211T>A (p.Val1404Asp) c.4112T>A (p.Val1371Asp) c.378T>A c.338T>A (p.Val113Asp) c.152T>A (p.Val51Asp) n.2452T>A c.2705T>A (p.Val902Asp) c.1668T>A c.4208T>A (p.Val1403Asp) c.2768T>A (p.Val923Asp) c.4121T>A (p.Val1374Asp) c.2496T>A c.4217T>A (p.Val1406Asp) c.2575T>A n.704T>A c.3634T>A c.2848T>A c.2883T>A c.2865T>A c.2699T>A (p.Val900Asp) c.760T>A c.2122T>A (n.2122T>A) c.2554T>A c.2059T>A (n.2059T>A) c.2511T>A n.714T>A c.2465T>A (p.Val822Asp) c.4313T>A (p.Val1438Asp) n.525T>A n.2649T>A n.2184T>A c.290T>A (p.Val97Asp) n.2034T>A c.4220T>A (p.Val1407Asp) n.4601T>A | dbSNP |
| 19 | g.11041347T>C | CA404072907 | SMARCA4 | c.4307T>C (p.Val1436Ala) c.4211T>C (p.Val1404Ala) c.4112T>C (p.Val1371Ala) c.378T>C c.338T>C (p.Val113Ala) c.152T>C (p.Val51Ala) n.2452T>C c.2705T>C (p.Val902Ala) c.1668T>C c.4208T>C (p.Val1403Ala) c.2768T>C (p.Val923Ala) c.4121T>C (p.Val1374Ala) c.2496T>C c.4217T>C (p.Val1406Ala) c.2575T>C n.704T>C c.3634T>C c.2848T>C c.2883T>C c.2865T>C c.2699T>C (p.Val900Ala) c.760T>C c.2122T>C (n.2122T>C) c.2554T>C c.2059T>C (n.2059T>C) c.2511T>C n.714T>C c.2465T>C (p.Val822Ala) c.4313T>C (p.Val1438Ala) n.525T>C n.2649T>C n.2184T>C c.290T>C (p.Val97Ala) n.2034T>C c.4220T>C (p.Val1407Ala) n.4601T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11041347T>G | CA404072919 | SMARCA4 | c.4307T>G (p.Val1436Gly) c.4211T>G (p.Val1404Gly) c.4112T>G (p.Val1371Gly) c.378T>G c.338T>G (p.Val113Gly) c.152T>G (p.Val51Gly) n.2452T>G c.2705T>G (p.Val902Gly) c.1668T>G c.4208T>G (p.Val1403Gly) c.2768T>G (p.Val923Gly) c.4121T>G (p.Val1374Gly) c.2496T>G c.4217T>G (p.Val1406Gly) c.2575T>G n.704T>G c.3634T>G c.2848T>G c.2883T>G c.2865T>G c.2699T>G (p.Val900Gly) c.760T>G c.2122T>G (n.2122T>G) c.2554T>G c.2059T>G (n.2059T>G) c.2511T>G n.714T>G c.2465T>G (p.Val822Gly) c.4313T>G (p.Val1438Gly) n.525T>G n.2649T>G n.2184T>G c.290T>G (p.Val97Gly) n.2034T>G c.4220T>G (p.Val1407Gly) n.4601T>G | dbSNP |
| 19 | g.11041347T= | CA2322734716 | SMARCA4 | c.4307T= (p.Val1436=) c.4211T= (p.Val1404=) c.4112T= (p.Val1371=) c.378T= c.338T= (p.Val113=) c.152T= (p.Val51=) n.2452T= c.2705T= (p.Val902=) c.1668T= c.4208T= (p.Val1403=) c.2768T= (p.Val923=) c.4121T= (p.Val1374=) c.2496T= c.4217T= (p.Val1406=) c.2575T= n.704T= c.3634T= c.2848T= c.2883T= c.2865T= c.2699T= (p.Val900=) c.760T= c.2122T= (n.2122T=) c.2554T= c.2059T= (n.2059T=) c.2511T= n.714T= c.2465T= (p.Val822=) c.4313T= (p.Val1438=) n.525T= n.2649T= n.2184T= c.290T= (p.Val97=) n.2034T= c.4220T= (p.Val1407=) n.4601T= | |
| 19 | g.11041348C>A | CA505743797 | SMARCA4 | c.4308C>A (p.Val1436=) c.4212C>A (p.Val1404=) c.4113C>A (p.Val1371=) c.379C>A c.339C>A (p.Val113=) c.153C>A (p.Val51=) n.2453C>A c.2706C>A (p.Val902=) c.1669C>A c.4209C>A (p.Val1403=) c.2769C>A (p.Val923=) c.4122C>A (p.Val1374=) c.2497C>A c.4218C>A (p.Val1406=) c.2576C>A n.705C>A c.3635C>A c.2849C>A c.2884C>A c.2866C>A c.2700C>A (p.Val900=) c.761C>A c.2123C>A (n.2123C>A) c.2555C>A c.2060C>A (n.2060C>A) c.2512C>A n.715C>A c.2466C>A (p.Val822=) c.4314C>A (p.Val1438=) n.526C>A n.2650C>A n.2185C>A c.291C>A (p.Val97=) n.2035C>A c.4221C>A (p.Val1407=) n.4602C>A | dbSNP |
| 19 | g.11041348C= | CA2322734717 | SMARCA4 | c.4308C= (p.Val1436=) c.4212C= (p.Val1404=) c.4113C= (p.Val1371=) c.379C= c.339C= (p.Val113=) c.153C= (p.Val51=) n.2453C= c.2706C= (p.Val902=) c.1669C= c.4209C= (p.Val1403=) c.2769C= (p.Val923=) c.4122C= (p.Val1374=) c.2497C= c.4218C= (p.Val1406=) c.2576C= n.705C= c.3635C= c.2849C= c.2884C= c.2866C= c.2700C= (p.Val900=) c.761C= c.2123C= (n.2123C=) c.2555C= c.2060C= (n.2060C=) c.2512C= n.715C= c.2466C= (p.Val822=) c.4314C= (p.Val1438=) n.526C= n.2650C= n.2185C= c.291C= (p.Val97=) n.2035C= c.4221C= (p.Val1407=) n.4602C= | |
| 19 | g.11041348C>G | CA505743799 | SMARCA4 | c.4308C>G (p.Val1436=) c.4212C>G (p.Val1404=) c.4113C>G (p.Val1371=) c.379C>G c.339C>G (p.Val113=) c.153C>G (p.Val51=) n.2453C>G c.2706C>G (p.Val902=) c.1669C>G c.4209C>G (p.Val1403=) c.2769C>G (p.Val923=) c.4122C>G (p.Val1374=) c.2497C>G c.4218C>G (p.Val1406=) c.2576C>G n.705C>G c.3635C>G c.2849C>G c.2884C>G c.2866C>G c.2700C>G (p.Val900=) c.761C>G c.2123C>G (n.2123C>G) c.2555C>G c.2060C>G (n.2060C>G) c.2512C>G n.715C>G c.2466C>G (p.Val822=) c.4314C>G (p.Val1438=) n.526C>G n.2650C>G n.2185C>G c.291C>G (p.Val97=) n.2035C>G c.4221C>G (p.Val1407=) n.4602C>G | dbSNP |
| 19 | g.11041348C>T | CA505743798 | SMARCA4 | c.4308C>T (p.Val1436=) c.4212C>T (p.Val1404=) c.4113C>T (p.Val1371=) c.379C>T c.339C>T (p.Val113=) c.153C>T (p.Val51=) n.2453C>T c.2706C>T (p.Val902=) c.1669C>T c.4209C>T (p.Val1403=) c.2769C>T (p.Val923=) c.4122C>T (p.Val1374=) c.2497C>T c.4218C>T (p.Val1406=) c.2576C>T n.705C>T c.3635C>T c.2849C>T c.2884C>T c.2866C>T c.2700C>T (p.Val900=) c.761C>T c.2123C>T (n.2123C>T) c.2555C>T c.2060C>T (n.2060C>T) c.2512C>T n.715C>T c.2466C>T (p.Val822=) c.4314C>T (p.Val1438=) n.526C>T n.2650C>T n.2185C>T c.291C>T (p.Val97=) n.2035C>T c.4221C>T (p.Val1407=) n.4602C>T | ClinVar dbSNP |
| 19 | g.11041349C>A | CA505743800 | SMARCA4 | c.4309C>A (p.Arg1437=) c.4213C>A (p.Arg1405=) c.4114C>A (p.Arg1372=) c.380C>A c.340C>A (p.Arg114=) c.154C>A (p.Arg52=) n.2454C>A c.2707C>A (p.Arg903=) c.1670C>A c.4210C>A (p.Arg1404=) c.2770C>A (p.Arg924=) c.4123C>A (p.Arg1375=) c.2498C>A c.4219C>A (p.Arg1407=) c.2577C>A n.706C>A c.3636C>A c.2850C>A c.2885C>A c.2867C>A c.2701C>A (p.Arg901=) c.762C>A c.2124C>A (n.2124C>A) c.2556C>A c.2061C>A (n.2061C>A) c.2513C>A n.716C>A c.2467C>A (p.Arg823=) c.4315C>A (p.Arg1439=) n.527C>A n.2651C>A n.2186C>A c.292C>A (p.Arg98=) n.2036C>A c.4222C>A (p.Arg1408=) n.4603C>A | dbSNP |
| 19 | g.11041349C= | CA2322734720 | SMARCA4 | c.4309C= (p.Arg1437=) c.4213C= (p.Arg1405=) c.4114C= (p.Arg1372=) c.380C= c.340C= (p.Arg114=) c.154C= (p.Arg52=) n.2454C= c.2707C= (p.Arg903=) c.1670C= c.4210C= (p.Arg1404=) c.2770C= (p.Arg924=) c.4123C= (p.Arg1375=) c.2498C= c.4219C= (p.Arg1407=) c.2577C= n.706C= c.3636C= c.2850C= c.2885C= c.2867C= c.2701C= (p.Arg901=) c.762C= c.2124C= (n.2124C=) c.2556C= c.2061C= (n.2061C=) c.2513C= n.716C= c.2467C= (p.Arg823=) c.4315C= (p.Arg1439=) n.527C= n.2651C= n.2186C= c.292C= (p.Arg98=) n.2036C= c.4222C= (p.Arg1408=) n.4603C= | |
| 19 | g.11041349C>G | CA404072925 | SMARCA4 | c.4309C>G (p.Arg1437Gly) c.4213C>G (p.Arg1405Gly) c.4114C>G (p.Arg1372Gly) c.380C>G c.340C>G (p.Arg114Gly) c.154C>G (p.Arg52Gly) n.2454C>G c.2707C>G (p.Arg903Gly) c.1670C>G c.4210C>G (p.Arg1404Gly) c.2770C>G (p.Arg924Gly) c.4123C>G (p.Arg1375Gly) c.2498C>G c.4219C>G (p.Arg1407Gly) c.2577C>G n.706C>G c.3636C>G c.2850C>G c.2885C>G c.2867C>G c.2701C>G (p.Arg901Gly) c.762C>G c.2124C>G (n.2124C>G) c.2556C>G c.2061C>G (n.2061C>G) c.2513C>G n.716C>G c.2467C>G (p.Arg823Gly) c.4315C>G (p.Arg1439Gly) n.527C>G n.2651C>G n.2186C>G c.292C>G (p.Arg98Gly) n.2036C>G c.4222C>G (p.Arg1408Gly) n.4603C>G | dbSNP |
| 19 | g.11041349C>T | CA16043066 | SMARCA4 | c.4309C>T (p.Arg1437Trp) c.4213C>T (p.Arg1405Trp) c.4114C>T (p.Arg1372Trp) c.380C>T c.340C>T (p.Arg114Trp) c.154C>T (p.Arg52Trp) n.2454C>T c.2707C>T (p.Arg903Trp) c.1670C>T c.4210C>T (p.Arg1404Trp) c.2770C>T (p.Arg924Trp) c.4123C>T (p.Arg1375Trp) c.2498C>T c.4219C>T (p.Arg1407Trp) c.2577C>T n.706C>T c.3636C>T c.2850C>T c.2885C>T c.2867C>T c.2701C>T (p.Arg901Trp) c.762C>T c.2124C>T (n.2124C>T) c.2556C>T c.2061C>T (n.2061C>T) c.2513C>T n.716C>T c.2467C>T (p.Arg823Trp) c.4315C>T (p.Arg1439Trp) n.527C>T n.2651C>T n.2186C>T c.292C>T (p.Arg98Trp) n.2036C>T c.4222C>T (p.Arg1408Trp) n.4603C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11041350G>A | CA305294309 | SMARCA4 | c.4310G>A (p.Arg1437Gln) c.4214G>A (p.Arg1405Gln) c.4115G>A (p.Arg1372Gln) c.381G>A c.341G>A (p.Arg114Gln) c.155G>A (p.Arg52Gln) n.2455G>A c.2708G>A (p.Arg903Gln) c.1671G>A c.4211G>A (p.Arg1404Gln) c.2771G>A (p.Arg924Gln) c.4124G>A (p.Arg1375Gln) c.2499G>A c.4220G>A (p.Arg1407Gln) c.2578G>A n.707G>A c.3637G>A c.2851G>A c.2886G>A c.2868G>A c.2702G>A (p.Arg901Gln) c.763G>A c.2125G>A (n.2125G>A) c.2557G>A c.2062G>A (n.2062G>A) c.2514G>A n.717G>A c.2468G>A (p.Arg823Gln) c.4316G>A (p.Arg1439Gln) n.528G>A n.2652G>A n.2187G>A c.293G>A (p.Arg98Gln) n.2037G>A c.4223G>A (p.Arg1408Gln) n.4604G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11041350G>C | CA404072929 | SMARCA4 | c.4310G>C (p.Arg1437Pro) c.4214G>C (p.Arg1405Pro) c.4115G>C (p.Arg1372Pro) c.381G>C c.341G>C (p.Arg114Pro) c.155G>C (p.Arg52Pro) n.2455G>C c.2708G>C (p.Arg903Pro) c.1671G>C c.4211G>C (p.Arg1404Pro) c.2771G>C (p.Arg924Pro) c.4124G>C (p.Arg1375Pro) c.2499G>C c.4220G>C (p.Arg1407Pro) c.2578G>C n.707G>C c.3637G>C c.2851G>C c.2886G>C c.2868G>C c.2702G>C (p.Arg901Pro) c.763G>C c.2125G>C (n.2125G>C) c.2557G>C c.2062G>C (n.2062G>C) c.2514G>C n.717G>C c.2468G>C (p.Arg823Pro) c.4316G>C (p.Arg1439Pro) n.528G>C n.2652G>C n.2187G>C c.293G>C (p.Arg98Pro) n.2037G>C c.4223G>C (p.Arg1408Pro) n.4604G>C | dbSNP |
| 19 | g.11041350G= | CA2322734730 | SMARCA4 | c.4310G= (p.Arg1437=) c.4214G= (p.Arg1405=) c.4115G= (p.Arg1372=) c.381G= c.341G= (p.Arg114=) c.155G= (p.Arg52=) n.2455G= c.2708G= (p.Arg903=) c.1671G= c.4211G= (p.Arg1404=) c.2771G= (p.Arg924=) c.4124G= (p.Arg1375=) c.2499G= c.4220G= (p.Arg1407=) c.2578G= n.707G= c.3637G= c.2851G= c.2886G= c.2868G= c.2702G= (p.Arg901=) c.763G= c.2125G= (n.2125G=) c.2557G= c.2062G= (n.2062G=) c.2514G= n.717G= c.2468G= (p.Arg823=) c.4316G= (p.Arg1439=) n.528G= n.2652G= n.2187G= c.293G= (p.Arg98=) n.2037G= c.4223G= (p.Arg1408=) n.4604G= | |
| 19 | g.11041350G>T | CA404072931 | SMARCA4 | c.4310G>T (p.Arg1437Leu) c.4214G>T (p.Arg1405Leu) c.4115G>T (p.Arg1372Leu) c.381G>T c.341G>T (p.Arg114Leu) c.155G>T (p.Arg52Leu) n.2455G>T c.2708G>T (p.Arg903Leu) c.1671G>T c.4211G>T (p.Arg1404Leu) c.2771G>T (p.Arg924Leu) c.4124G>T (p.Arg1375Leu) c.2499G>T c.4220G>T (p.Arg1407Leu) c.2578G>T n.707G>T c.3637G>T c.2851G>T c.2886G>T c.2868G>T c.2702G>T (p.Arg901Leu) c.763G>T c.2125G>T (n.2125G>T) c.2557G>T c.2062G>T (n.2062G>T) c.2514G>T n.717G>T c.2468G>T (p.Arg823Leu) c.4316G>T (p.Arg1439Leu) n.528G>T n.2652G>T n.2187G>T c.293G>T (p.Arg98Leu) n.2037G>T c.4223G>T (p.Arg1408Leu) n.4604G>T | dbSNP |
| 19 | g.11041351G>A | CA505743802 | SMARCA4 | c.4311G>A (p.Arg1437=) c.4215G>A (p.Arg1405=) c.4116G>A (p.Arg1372=) c.382G>A c.342G>A (p.Arg114=) c.156G>A (p.Arg52=) n.2456G>A c.2709G>A (p.Arg903=) c.1672G>A c.4212G>A (p.Arg1404=) c.2772G>A (p.Arg924=) c.4125G>A (p.Arg1375=) c.2500G>A c.4221G>A (p.Arg1407=) c.2579G>A n.708G>A c.3638G>A c.2852G>A c.2887G>A c.2869G>A c.2703G>A (p.Arg901=) c.764G>A c.2126G>A (n.2126G>A) c.2558G>A c.2063G>A (n.2063G>A) c.2515G>A n.718G>A c.2469G>A (p.Arg823=) c.4317G>A (p.Arg1439=) n.529G>A n.2653G>A n.2188G>A c.294G>A (p.Arg98=) n.2038G>A c.4224G>A (p.Arg1408=) n.4605G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.11041351G>C | CA505743803 | SMARCA4 | c.4311G>C (p.Arg1437=) c.4215G>C (p.Arg1405=) c.4116G>C (p.Arg1372=) c.382G>C c.342G>C (p.Arg114=) c.156G>C (p.Arg52=) n.2456G>C c.2709G>C (p.Arg903=) c.1672G>C c.4212G>C (p.Arg1404=) c.2772G>C (p.Arg924=) c.4125G>C (p.Arg1375=) c.2500G>C c.4221G>C (p.Arg1407=) c.2579G>C n.708G>C c.3638G>C c.2852G>C c.2887G>C c.2869G>C c.2703G>C (p.Arg901=) c.764G>C c.2126G>C (n.2126G>C) c.2558G>C c.2063G>C (n.2063G>C) c.2515G>C n.718G>C c.2469G>C (p.Arg823=) c.4317G>C (p.Arg1439=) n.529G>C n.2653G>C n.2188G>C c.294G>C (p.Arg98=) n.2038G>C c.4224G>C (p.Arg1408=) n.4605G>C | dbSNP |
| 19 | g.11041351G= | CA2322734734 | SMARCA4 | c.4311G= (p.Arg1437=) c.4215G= (p.Arg1405=) c.4116G= (p.Arg1372=) c.382G= c.342G= (p.Arg114=) c.156G= (p.Arg52=) n.2456G= c.2709G= (p.Arg903=) c.1672G= c.4212G= (p.Arg1404=) c.2772G= (p.Arg924=) c.4125G= (p.Arg1375=) c.2500G= c.4221G= (p.Arg1407=) c.2579G= n.708G= c.3638G= c.2852G= c.2887G= c.2869G= c.2703G= (p.Arg901=) c.764G= c.2126G= (n.2126G=) c.2558G= c.2063G= (n.2063G=) c.2515G= n.718G= c.2469G= (p.Arg823=) c.4317G= (p.Arg1439=) n.529G= n.2653G= n.2188G= c.294G= (p.Arg98=) n.2038G= c.4224G= (p.Arg1408=) n.4605G= | |
| 19 | g.11041351G>T | CA505743804 | SMARCA4 | c.4311G>T (p.Arg1437=) c.4215G>T (p.Arg1405=) c.4116G>T (p.Arg1372=) c.382G>T c.342G>T (p.Arg114=) c.156G>T (p.Arg52=) n.2456G>T c.2709G>T (p.Arg903=) c.1672G>T c.4212G>T (p.Arg1404=) c.2772G>T (p.Arg924=) c.4125G>T (p.Arg1375=) c.2500G>T c.4221G>T (p.Arg1407=) c.2579G>T n.708G>T c.3638G>T c.2852G>T c.2887G>T c.2869G>T c.2703G>T (p.Arg901=) c.764G>T c.2126G>T (n.2126G>T) c.2558G>T c.2063G>T (n.2063G>T) c.2515G>T n.718G>T c.2469G>T (p.Arg823=) c.4317G>T (p.Arg1439=) n.529G>T n.2653G>T n.2188G>T c.294G>T (p.Arg98=) n.2038G>T c.4224G>T (p.Arg1408=) n.4605G>T | dbSNP |
| 19 | g.11041352C>A | CA404072933 | SMARCA4 | c.4312C>A (p.Gln1438Lys) c.4216C>A (p.Gln1406Lys) c.4117C>A (p.Gln1373Lys) c.383C>A c.343C>A (p.Gln115Lys) c.157C>A (p.Gln53Lys) n.2457C>A c.2710C>A (p.Gln904Lys) c.1673C>A c.4213C>A (p.Gln1405Lys) c.2773C>A (p.Gln925Lys) c.4126C>A (p.Gln1376Lys) c.2501C>A c.4222C>A (p.Gln1408Lys) c.2580C>A n.709C>A c.3639C>A c.2853C>A c.2888C>A c.2870C>A c.2704C>A (p.Gln902Lys) c.765C>A c.2127C>A (n.2127C>A) c.2559C>A c.2064C>A (n.2064C>A) c.2516C>A n.719C>A c.2470C>A (p.Gln824Lys) c.4318C>A (p.Gln1440Lys) n.530C>A n.2654C>A n.2189C>A c.295C>A (p.Gln99Lys) n.2039C>A c.4225C>A (p.Gln1409Lys) n.4606C>A | dbSNP |
| 19 | g.11041352C>G | CA404072935 | SMARCA4 | c.4312C>G (p.Gln1438Glu) c.4216C>G (p.Gln1406Glu) c.4117C>G (p.Gln1373Glu) c.383C>G c.343C>G (p.Gln115Glu) c.157C>G (p.Gln53Glu) n.2457C>G c.2710C>G (p.Gln904Glu) c.1673C>G c.4213C>G (p.Gln1405Glu) c.2773C>G (p.Gln925Glu) c.4126C>G (p.Gln1376Glu) c.2501C>G c.4222C>G (p.Gln1408Glu) c.2580C>G n.709C>G c.3639C>G c.2853C>G c.2888C>G c.2870C>G c.2704C>G (p.Gln902Glu) c.765C>G c.2127C>G (n.2127C>G) c.2559C>G c.2064C>G (n.2064C>G) c.2516C>G n.719C>G c.2470C>G (p.Gln824Glu) c.4318C>G (p.Gln1440Glu) n.530C>G n.2654C>G n.2189C>G c.295C>G (p.Gln99Glu) n.2039C>G c.4225C>G (p.Gln1409Glu) n.4606C>G | dbSNP |
| 19 | g.11041352C>T | CA404072938 | SMARCA4 | c.4312C>T (p.Gln1438Ter) c.4216C>T (p.Gln1406Ter) c.4117C>T (p.Gln1373Ter) c.383C>T c.343C>T (p.Gln115Ter) c.157C>T (p.Gln53Ter) n.2457C>T c.2710C>T (p.Gln904Ter) c.1673C>T c.4213C>T (p.Gln1405Ter) c.2773C>T (p.Gln925Ter) c.4126C>T (p.Gln1376Ter) c.2501C>T c.4222C>T (p.Gln1408Ter) c.2580C>T n.709C>T c.3639C>T c.2853C>T c.2888C>T c.2870C>T c.2704C>T (p.Gln902Ter) c.765C>T c.2127C>T (n.2127C>T) c.2559C>T c.2064C>T (n.2064C>T) c.2516C>T n.719C>T c.2470C>T (p.Gln824Ter) c.4318C>T (p.Gln1440Ter) n.530C>T n.2654C>T n.2189C>T c.295C>T (p.Gln99Ter) n.2039C>T c.4225C>T (p.Gln1409Ter) n.4606C>T | dbSNP |
| 19 | g.11041353A= | CA2322734740 | SMARCA4 | c.4313A= (p.Gln1438=) c.4217A= (p.Gln1406=) c.4118A= (p.Gln1373=) c.384A= c.344A= (p.Gln115=) c.158A= (p.Gln53=) n.2458A= c.2711A= (p.Gln904=) c.1674A= c.4214A= (p.Gln1405=) c.2774A= (p.Gln925=) c.4127A= (p.Gln1376=) c.2502A= c.4223A= (p.Gln1408=) c.2581A= n.710A= c.3640A= c.2854A= c.2889A= c.2871A= c.2705A= (p.Gln902=) c.766A= c.2128A= (n.2128A=) c.2560A= c.2065A= (n.2065A=) c.2517A= n.720A= c.2471A= (p.Gln824=) c.4319A= (p.Gln1440=) n.531A= n.2655A= n.2190A= c.296A= (p.Gln99=) n.2040A= c.4226A= (p.Gln1409=) n.4607A= | |
| 19 | g.11041353A>C | CA404072939 | SMARCA4 | c.4313A>C (p.Gln1438Pro) c.4217A>C (p.Gln1406Pro) c.4118A>C (p.Gln1373Pro) c.384A>C c.344A>C (p.Gln115Pro) c.158A>C (p.Gln53Pro) n.2458A>C c.2711A>C (p.Gln904Pro) c.1674A>C c.4214A>C (p.Gln1405Pro) c.2774A>C (p.Gln925Pro) c.4127A>C (p.Gln1376Pro) c.2502A>C c.4223A>C (p.Gln1408Pro) c.2581A>C n.710A>C c.3640A>C c.2854A>C c.2889A>C c.2871A>C c.2705A>C (p.Gln902Pro) c.766A>C c.2128A>C (n.2128A>C) c.2560A>C c.2065A>C (n.2065A>C) c.2517A>C n.720A>C c.2471A>C (p.Gln824Pro) c.4319A>C (p.Gln1440Pro) n.531A>C n.2655A>C n.2190A>C c.296A>C (p.Gln99Pro) n.2040A>C c.4226A>C (p.Gln1409Pro) n.4607A>C | |
| 19 | g.11041353A>G | CA404072940 | SMARCA4 | c.4313A>G (p.Gln1438Arg) c.4217A>G (p.Gln1406Arg) c.4118A>G (p.Gln1373Arg) c.384A>G c.344A>G (p.Gln115Arg) c.158A>G (p.Gln53Arg) n.2458A>G c.2711A>G (p.Gln904Arg) c.1674A>G c.4214A>G (p.Gln1405Arg) c.2774A>G (p.Gln925Arg) c.4127A>G (p.Gln1376Arg) c.2502A>G c.4223A>G (p.Gln1408Arg) c.2581A>G n.710A>G c.3640A>G c.2854A>G c.2889A>G c.2871A>G c.2705A>G (p.Gln902Arg) c.766A>G c.2128A>G (n.2128A>G) c.2560A>G c.2065A>G (n.2065A>G) c.2517A>G n.720A>G c.2471A>G (p.Gln824Arg) c.4319A>G (p.Gln1440Arg) n.531A>G n.2655A>G n.2190A>G c.296A>G (p.Gln99Arg) n.2040A>G c.4226A>G (p.Gln1409Arg) n.4607A>G | ClinVar dbSNP gnomAD v4 |
| 19 | g.11041353A>T | CA404072942 | SMARCA4 | c.4313A>T (p.Gln1438Leu) c.4217A>T (p.Gln1406Leu) c.4118A>T (p.Gln1373Leu) c.384A>T c.344A>T (p.Gln115Leu) c.158A>T (p.Gln53Leu) n.2458A>T c.2711A>T (p.Gln904Leu) c.1674A>T c.4214A>T (p.Gln1405Leu) c.2774A>T (p.Gln925Leu) c.4127A>T (p.Gln1376Leu) c.2502A>T c.4223A>T (p.Gln1408Leu) c.2581A>T n.710A>T c.3640A>T c.2854A>T c.2889A>T c.2871A>T c.2705A>T (p.Gln902Leu) c.766A>T c.2128A>T (n.2128A>T) c.2560A>T c.2065A>T (n.2065A>T) c.2517A>T n.720A>T c.2471A>T (p.Gln824Leu) c.4319A>T (p.Gln1440Leu) n.531A>T n.2655A>T n.2190A>T c.296A>T (p.Gln99Leu) n.2040A>T c.4226A>T (p.Gln1409Leu) n.4607A>T | dbSNP |
| 19 | g.11041354G>A | CA9204676 | SMARCA4 | c.4314G>A (p.Gln1438=) c.4218G>A (p.Gln1406=) c.4119G>A (p.Gln1373=) c.385G>A c.345G>A (p.Gln115=) c.159G>A (p.Gln53=) n.2459G>A c.2712G>A (p.Gln904=) c.1675G>A c.4215G>A (p.Gln1405=) c.2775G>A (p.Gln925=) c.4128G>A (p.Gln1376=) c.2503G>A c.4224G>A (p.Gln1408=) c.2582G>A n.711G>A c.3641G>A c.2855G>A c.2890G>A c.2872G>A c.2706G>A (p.Gln902=) c.767G>A c.2129G>A (n.2129G>A) c.2561G>A c.2066G>A (n.2066G>A) c.2518G>A n.721G>A c.2472G>A (p.Gln824=) c.4320G>A (p.Gln1440=) n.532G>A n.2656G>A n.2191G>A c.297G>A (p.Gln99=) n.2041G>A c.4227G>A (p.Gln1409=) n.4608G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.11041354G>C | CA404072948 | SMARCA4 | c.4314G>C (p.Gln1438His) c.4218G>C (p.Gln1406His) c.4119G>C (p.Gln1373His) c.385G>C c.345G>C (p.Gln115His) c.159G>C (p.Gln53His) n.2459G>C c.2712G>C (p.Gln904His) c.1675G>C c.4215G>C (p.Gln1405His) c.2775G>C (p.Gln925His) c.4128G>C (p.Gln1376His) c.2503G>C c.4224G>C (p.Gln1408His) c.2582G>C n.711G>C c.3641G>C c.2855G>C c.2890G>C c.2872G>C c.2706G>C (p.Gln902His) c.767G>C c.2129G>C (n.2129G>C) c.2561G>C c.2066G>C (n.2066G>C) c.2518G>C n.721G>C c.2472G>C (p.Gln824His) c.4320G>C (p.Gln1440His) n.532G>C n.2656G>C n.2191G>C c.297G>C (p.Gln99His) n.2041G>C c.4227G>C (p.Gln1409His) n.4608G>C | dbSNP |
| 19 | g.11041354G= | CA2322734743 | SMARCA4 | c.4314G= (p.Gln1438=) c.4218G= (p.Gln1406=) c.4119G= (p.Gln1373=) c.385G= c.345G= (p.Gln115=) c.159G= (p.Gln53=) n.2459G= c.2712G= (p.Gln904=) c.1675G= c.4215G= (p.Gln1405=) c.2775G= (p.Gln925=) c.4128G= (p.Gln1376=) c.2503G= c.4224G= (p.Gln1408=) c.2582G= n.711G= c.3641G= c.2855G= c.2890G= c.2872G= c.2706G= (p.Gln902=) c.767G= c.2129G= (n.2129G=) c.2561G= c.2066G= (n.2066G=) c.2518G= n.721G= c.2472G= (p.Gln824=) c.4320G= (p.Gln1440=) n.532G= n.2656G= n.2191G= c.297G= (p.Gln99=) n.2041G= c.4227G= (p.Gln1409=) n.4608G= | |
| 19 | g.11041354G>T | CA404072951 | SMARCA4 | c.4314G>T (p.Gln1438His) c.4218G>T (p.Gln1406His) c.4119G>T (p.Gln1373His) c.385G>T c.345G>T (p.Gln115His) c.159G>T (p.Gln53His) n.2459G>T c.2712G>T (p.Gln904His) c.1675G>T c.4215G>T (p.Gln1405His) c.2775G>T (p.Gln925His) c.4128G>T (p.Gln1376His) c.2503G>T c.4224G>T (p.Gln1408His) c.2582G>T n.711G>T c.3641G>T c.2855G>T c.2890G>T c.2872G>T c.2706G>T (p.Gln902His) c.767G>T c.2129G>T (n.2129G>T) c.2561G>T c.2066G>T (n.2066G>T) c.2518G>T n.721G>T c.2472G>T (p.Gln824His) c.4320G>T (p.Gln1440His) n.532G>T n.2656G>T n.2191G>T c.297G>T (p.Gln99His) n.2041G>T c.4227G>T (p.Gln1409His) n.4608G>T | dbSNP |
| 19 | g.11041355A>C | CA404072961 | SMARCA4 | c.4315A>C (p.Lys1439Gln) c.4219A>C (p.Lys1407Gln) c.4120A>C (p.Lys1374Gln) c.386A>C c.346A>C (p.Lys116Gln) c.160A>C (p.Lys54Gln) n.2460A>C c.2713A>C (p.Lys905Gln) c.1676A>C c.4216A>C (p.Lys1406Gln) c.2776A>C (p.Lys926Gln) c.4129A>C (p.Lys1377Gln) c.2504A>C c.4225A>C (p.Lys1409Gln) c.2583A>C n.712A>C c.3642A>C c.2856A>C c.2891A>C c.2873A>C c.2707A>C (p.Lys903Gln) c.768A>C c.2130A>C (n.2130A>C) c.2562A>C c.2067A>C (n.2067A>C) c.2519A>C n.722A>C c.2473A>C (p.Lys825Gln) c.4321A>C (p.Lys1441Gln) n.533A>C n.2657A>C n.2192A>C c.298A>C (p.Lys100Gln) n.2042A>C c.4228A>C (p.Lys1410Gln) n.4609A>C | |
| 19 | g.11041355A>G | CA404072959 | SMARCA4 | c.4315A>G (p.Lys1439Glu) c.4219A>G (p.Lys1407Glu) c.4120A>G (p.Lys1374Glu) c.386A>G c.346A>G (p.Lys116Glu) c.160A>G (p.Lys54Glu) n.2460A>G c.2713A>G (p.Lys905Glu) c.1676A>G c.4216A>G (p.Lys1406Glu) c.2776A>G (p.Lys926Glu) c.4129A>G (p.Lys1377Glu) c.2504A>G c.4225A>G (p.Lys1409Glu) c.2583A>G n.712A>G c.3642A>G c.2856A>G c.2891A>G c.2873A>G c.2707A>G (p.Lys903Glu) c.768A>G c.2130A>G (n.2130A>G) c.2562A>G c.2067A>G (n.2067A>G) c.2519A>G n.722A>G c.2473A>G (p.Lys825Glu) c.4321A>G (p.Lys1441Glu) n.533A>G n.2657A>G n.2192A>G c.298A>G (p.Lys100Glu) n.2042A>G c.4228A>G (p.Lys1410Glu) n.4609A>G | |
| 19 | g.11041355A>T | CA404072955 | SMARCA4 | c.4315A>T (p.Lys1439Ter) c.4219A>T (p.Lys1407Ter) c.4120A>T (p.Lys1374Ter) c.386A>T c.346A>T (p.Lys116Ter) c.160A>T (p.Lys54Ter) n.2460A>T c.2713A>T (p.Lys905Ter) c.1676A>T c.4216A>T (p.Lys1406Ter) c.2776A>T (p.Lys926Ter) c.4129A>T (p.Lys1377Ter) c.2504A>T c.4225A>T (p.Lys1409Ter) c.2583A>T n.712A>T c.3642A>T c.2856A>T c.2891A>T c.2873A>T c.2707A>T (p.Lys903Ter) c.768A>T c.2130A>T (n.2130A>T) c.2562A>T c.2067A>T (n.2067A>T) c.2519A>T n.722A>T c.2473A>T (p.Lys825Ter) c.4321A>T (p.Lys1441Ter) n.533A>T n.2657A>T n.2192A>T c.298A>T (p.Lys100Ter) n.2042A>T c.4228A>T (p.Lys1410Ter) n.4609A>T | dbSNP |
| 19 | g.11041356del | CA2831039026 | SMARCA4 | c.4316del (p.Lys1439ArgfsTer?) c.4220del (p.Lys1407ArgfsTer?) c.4121del (p.Lys1374ArgfsTer?) c.387del c.347del (p.Lys116ArgfsTer?) c.161del (p.Lys54ArgfsTer?) n.2461del c.2714del (p.Lys905ArgfsTer?) c.1677del c.4217del (p.Lys1406ArgfsTer?) c.2777del (p.Lys926ArgfsTer?) c.4130del (p.Lys1377ArgfsTer?) c.2505del c.4226del (p.Lys1409ArgfsTer?) c.2584del n.713del c.3643del c.2857del c.2892del c.2874del c.2708del (p.Lys903ArgfsTer?) c.769del c.2131del (n.2131del) c.2563del c.2068del (n.2068del) c.2520del n.723del c.2474del (p.Lys825ArgfsTer?) c.4322del (p.Lys1441ArgfsTer?) n.534del n.2658del n.2193del c.299del (p.Lys100ArgfsTer?) n.2043del c.4229del (p.Lys1410ArgfsTer?) n.4610del | |
| 19 | g.11041356A>C | CA404072964 | SMARCA4 | c.4316A>C (p.Lys1439Thr) c.4220A>C (p.Lys1407Thr) c.4121A>C (p.Lys1374Thr) c.387A>C c.347A>C (p.Lys116Thr) c.161A>C (p.Lys54Thr) n.2461A>C c.2714A>C (p.Lys905Thr) c.1677A>C c.4217A>C (p.Lys1406Thr) c.2777A>C (p.Lys926Thr) c.4130A>C (p.Lys1377Thr) c.2505A>C c.4226A>C (p.Lys1409Thr) c.2584A>C n.713A>C c.3643A>C c.2857A>C c.2892A>C c.2874A>C c.2708A>C (p.Lys903Thr) c.769A>C c.2131A>C (n.2131A>C) c.2563A>C c.2068A>C (n.2068A>C) c.2520A>C n.723A>C c.2474A>C (p.Lys825Thr) c.4322A>C (p.Lys1441Thr) n.534A>C n.2658A>C n.2193A>C c.299A>C (p.Lys100Thr) n.2043A>C c.4229A>C (p.Lys1410Thr) n.4610A>C | |
| 19 | g.11041356A>G | CA404072967 | SMARCA4 | c.4316A>G (p.Lys1439Arg) c.4220A>G (p.Lys1407Arg) c.4121A>G (p.Lys1374Arg) c.387A>G c.347A>G (p.Lys116Arg) c.161A>G (p.Lys54Arg) n.2461A>G c.2714A>G (p.Lys905Arg) c.1677A>G c.4217A>G (p.Lys1406Arg) c.2777A>G (p.Lys926Arg) c.4130A>G (p.Lys1377Arg) c.2505A>G c.4226A>G (p.Lys1409Arg) c.2584A>G n.713A>G c.3643A>G c.2857A>G c.2892A>G c.2874A>G c.2708A>G (p.Lys903Arg) c.769A>G c.2131A>G (n.2131A>G) c.2563A>G c.2068A>G (n.2068A>G) c.2520A>G n.723A>G c.2474A>G (p.Lys825Arg) c.4322A>G (p.Lys1441Arg) n.534A>G n.2658A>G n.2193A>G c.299A>G (p.Lys100Arg) n.2043A>G c.4229A>G (p.Lys1410Arg) n.4610A>G | |
| 19 | g.11041356A>T | CA404072973 | SMARCA4 | c.4316A>T (p.Lys1439Met) c.4220A>T (p.Lys1407Met) c.4121A>T (p.Lys1374Met) c.387A>T c.347A>T (p.Lys116Met) c.161A>T (p.Lys54Met) n.2461A>T c.2714A>T (p.Lys905Met) c.1677A>T c.4217A>T (p.Lys1406Met) c.2777A>T (p.Lys926Met) c.4130A>T (p.Lys1377Met) c.2505A>T c.4226A>T (p.Lys1409Met) c.2584A>T n.713A>T c.3643A>T c.2857A>T c.2892A>T c.2874A>T c.2708A>T (p.Lys903Met) c.769A>T c.2131A>T (n.2131A>T) c.2563A>T c.2068A>T (n.2068A>T) c.2520A>T n.723A>T c.2474A>T (p.Lys825Met) c.4322A>T (p.Lys1441Met) n.534A>T n.2658A>T n.2193A>T c.299A>T (p.Lys100Met) n.2043A>T c.4229A>T (p.Lys1410Met) n.4610A>T | |
| 19 | g.11041357G>A | CA505743809 | SMARCA4 | c.4317G>A (p.Lys1439=) c.4221G>A (p.Lys1407=) c.4122G>A (p.Lys1374=) c.388G>A c.348G>A (p.Lys116=) c.162G>A (p.Lys54=) n.2462G>A c.2715G>A (p.Lys905=) c.1678G>A c.4218G>A (p.Lys1406=) c.2778G>A (p.Lys926=) c.4131G>A (p.Lys1377=) c.2506G>A c.4227G>A (p.Lys1409=) c.2585G>A n.714G>A c.3644G>A c.2858G>A c.2893G>A c.2875G>A c.2709G>A (p.Lys903=) c.770G>A c.2132G>A (n.2132G>A) c.2564G>A c.2069G>A (n.2069G>A) c.2521G>A n.724G>A c.2475G>A (p.Lys825=) c.4323G>A (p.Lys1441=) n.535G>A n.2659G>A n.2194G>A c.300G>A (p.Lys100=) n.2044G>A c.4230G>A (p.Lys1410=) n.4611G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.11041357G>C | CA404072976 | SMARCA4 | c.4317G>C (p.Lys1439Asn) c.4221G>C (p.Lys1407Asn) c.4122G>C (p.Lys1374Asn) c.388G>C c.348G>C (p.Lys116Asn) c.162G>C (p.Lys54Asn) n.2462G>C c.2715G>C (p.Lys905Asn) c.1678G>C c.4218G>C (p.Lys1406Asn) c.2778G>C (p.Lys926Asn) c.4131G>C (p.Lys1377Asn) c.2506G>C c.4227G>C (p.Lys1409Asn) c.2585G>C n.714G>C c.3644G>C c.2858G>C c.2893G>C c.2875G>C c.2709G>C (p.Lys903Asn) c.770G>C c.2132G>C (n.2132G>C) c.2564G>C c.2069G>C (n.2069G>C) c.2521G>C n.724G>C c.2475G>C (p.Lys825Asn) c.4323G>C (p.Lys1441Asn) n.535G>C n.2659G>C n.2194G>C c.300G>C (p.Lys100Asn) n.2044G>C c.4230G>C (p.Lys1410Asn) n.4611G>C | dbSNP |
| 19 | g.11041357G= | CA2322734745 | SMARCA4 | c.4317G= (p.Lys1439=) c.4221G= (p.Lys1407=) c.4122G= (p.Lys1374=) c.388G= c.348G= (p.Lys116=) c.162G= (p.Lys54=) n.2462G= c.2715G= (p.Lys905=) c.1678G= c.4218G= (p.Lys1406=) c.2778G= (p.Lys926=) c.4131G= (p.Lys1377=) c.2506G= c.4227G= (p.Lys1409=) c.2585G= n.714G= c.3644G= c.2858G= c.2893G= c.2875G= c.2709G= (p.Lys903=) c.770G= c.2132G= (n.2132G=) c.2564G= c.2069G= (n.2069G=) c.2521G= n.724G= c.2475G= (p.Lys825=) c.4323G= (p.Lys1441=) n.535G= n.2659G= n.2194G= c.300G= (p.Lys100=) n.2044G= c.4230G= (p.Lys1410=) n.4611G= | |
| 19 | g.11041357G>T | CA404072978 | SMARCA4 | c.4317G>T (p.Lys1439Asn) c.4221G>T (p.Lys1407Asn) c.4122G>T (p.Lys1374Asn) c.388G>T c.348G>T (p.Lys116Asn) c.162G>T (p.Lys54Asn) n.2462G>T c.2715G>T (p.Lys905Asn) c.1678G>T c.4218G>T (p.Lys1406Asn) c.2778G>T (p.Lys926Asn) c.4131G>T (p.Lys1377Asn) c.2506G>T c.4227G>T (p.Lys1409Asn) c.2585G>T n.714G>T c.3644G>T c.2858G>T c.2893G>T c.2875G>T c.2709G>T (p.Lys903Asn) c.770G>T c.2132G>T (n.2132G>T) c.2564G>T c.2069G>T (n.2069G>T) c.2521G>T n.724G>T c.2475G>T (p.Lys825Asn) c.4323G>T (p.Lys1441Asn) n.535G>T n.2659G>T n.2194G>T c.300G>T (p.Lys100Asn) n.2044G>T c.4230G>T (p.Lys1410Asn) n.4611G>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.11041358A>C | CA404072980 | SMARCA4 | c.4318A>C (p.Lys1440Gln) c.4222A>C (p.Lys1408Gln) c.4123A>C (p.Lys1375Gln) c.389A>C c.349A>C (p.Lys117Gln) c.163A>C (p.Lys55Gln) n.2463A>C c.2716A>C (p.Lys906Gln) c.1679A>C c.4219A>C (p.Lys1407Gln) c.2779A>C (p.Lys927Gln) c.4132A>C (p.Lys1378Gln) c.2507A>C c.4228A>C (p.Lys1410Gln) c.2586A>C n.715A>C c.3645A>C c.2859A>C c.2894A>C c.2876A>C c.2710A>C (p.Lys904Gln) c.771A>C c.2133A>C (n.2133A>C) c.2565A>C c.2070A>C (n.2070A>C) c.2522A>C n.725A>C c.2476A>C (p.Lys826Gln) c.4324A>C (p.Lys1442Gln) n.536A>C n.2660A>C n.2195A>C c.301A>C (p.Lys101Gln) n.2045A>C c.4231A>C (p.Lys1411Gln) n.4612A>C | |
| 19 | g.11041358A>G | CA404072983 | SMARCA4 | c.4318A>G (p.Lys1440Glu) c.4222A>G (p.Lys1408Glu) c.4123A>G (p.Lys1375Glu) c.389A>G c.349A>G (p.Lys117Glu) c.163A>G (p.Lys55Glu) n.2463A>G c.2716A>G (p.Lys906Glu) c.1679A>G c.4219A>G (p.Lys1407Glu) c.2779A>G (p.Lys927Glu) c.4132A>G (p.Lys1378Glu) c.2507A>G c.4228A>G (p.Lys1410Glu) c.2586A>G n.715A>G c.3645A>G c.2859A>G c.2894A>G c.2876A>G c.2710A>G (p.Lys904Glu) c.771A>G c.2133A>G (n.2133A>G) c.2565A>G c.2070A>G (n.2070A>G) c.2522A>G n.725A>G c.2476A>G (p.Lys826Glu) c.4324A>G (p.Lys1442Glu) n.536A>G n.2660A>G n.2195A>G c.301A>G (p.Lys101Glu) n.2045A>G c.4231A>G (p.Lys1411Glu) n.4612A>G | dbSNP |
| 19 | g.11041358A>T | CA404072986 | SMARCA4 | c.4318A>T (p.Lys1440Ter) c.4222A>T (p.Lys1408Ter) c.4123A>T (p.Lys1375Ter) c.389A>T c.349A>T (p.Lys117Ter) c.163A>T (p.Lys55Ter) n.2463A>T c.2716A>T (p.Lys906Ter) c.1679A>T c.4219A>T (p.Lys1407Ter) c.2779A>T (p.Lys927Ter) c.4132A>T (p.Lys1378Ter) c.2507A>T c.4228A>T (p.Lys1410Ter) c.2586A>T n.715A>T c.3645A>T c.2859A>T c.2894A>T c.2876A>T c.2710A>T (p.Lys904Ter) c.771A>T c.2133A>T (n.2133A>T) c.2565A>T c.2070A>T (n.2070A>T) c.2522A>T n.725A>T c.2476A>T (p.Lys826Ter) c.4324A>T (p.Lys1442Ter) n.536A>T n.2660A>T n.2195A>T c.301A>T (p.Lys101Ter) n.2045A>T c.4231A>T (p.Lys1411Ter) n.4612A>T | dbSNP |
| 19 | g.11041359A>C | CA404072990 | SMARCA4 | c.4319A>C (p.Lys1440Thr) c.4223A>C (p.Lys1408Thr) c.4124A>C (p.Lys1375Thr) c.390A>C c.350A>C (p.Lys117Thr) c.164A>C (p.Lys55Thr) n.2464A>C c.2717A>C (p.Lys906Thr) c.1680A>C c.4220A>C (p.Lys1407Thr) c.2780A>C (p.Lys927Thr) c.4133A>C (p.Lys1378Thr) c.2508A>C c.4229A>C (p.Lys1410Thr) c.2587A>C n.716A>C c.3646A>C c.2860A>C c.2895A>C c.2877A>C c.2711A>C (p.Lys904Thr) c.772A>C c.2134A>C (n.2134A>C) c.2566A>C c.2071A>C (n.2071A>C) c.2523A>C n.726A>C c.2477A>C (p.Lys826Thr) c.4325A>C (p.Lys1442Thr) n.537A>C n.2661A>C n.2196A>C c.302A>C (p.Lys101Thr) n.2046A>C c.4232A>C (p.Lys1411Thr) n.4613A>C | dbSNP |
| 19 | g.11041359A>G | CA404072995 | SMARCA4 | c.4319A>G (p.Lys1440Arg) c.4223A>G (p.Lys1408Arg) c.4124A>G (p.Lys1375Arg) c.390A>G c.350A>G (p.Lys117Arg) c.164A>G (p.Lys55Arg) n.2464A>G c.2717A>G (p.Lys906Arg) c.1680A>G c.4220A>G (p.Lys1407Arg) c.2780A>G (p.Lys927Arg) c.4133A>G (p.Lys1378Arg) c.2508A>G c.4229A>G (p.Lys1410Arg) c.2587A>G n.716A>G c.3646A>G c.2860A>G c.2895A>G c.2877A>G c.2711A>G (p.Lys904Arg) c.772A>G c.2134A>G (n.2134A>G) c.2566A>G c.2071A>G (n.2071A>G) c.2523A>G n.726A>G c.2477A>G (p.Lys826Arg) c.4325A>G (p.Lys1442Arg) n.537A>G n.2661A>G n.2196A>G c.302A>G (p.Lys101Arg) n.2046A>G c.4232A>G (p.Lys1411Arg) n.4613A>G | dbSNP |
| 19 | g.11041359A>T | CA404073002 | SMARCA4 | c.4319A>T (p.Lys1440Ile) c.4223A>T (p.Lys1408Ile) c.4124A>T (p.Lys1375Ile) c.390A>T c.350A>T (p.Lys117Ile) c.164A>T (p.Lys55Ile) n.2464A>T c.2717A>T (p.Lys906Ile) c.1680A>T c.4220A>T (p.Lys1407Ile) c.2780A>T (p.Lys927Ile) c.4133A>T (p.Lys1378Ile) c.2508A>T c.4229A>T (p.Lys1410Ile) c.2587A>T n.716A>T c.3646A>T c.2860A>T c.2895A>T c.2877A>T c.2711A>T (p.Lys904Ile) c.772A>T c.2134A>T (n.2134A>T) c.2566A>T c.2071A>T (n.2071A>T) c.2523A>T n.726A>T c.2477A>T (p.Lys826Ile) c.4325A>T (p.Lys1442Ile) n.537A>T n.2661A>T n.2196A>T c.302A>T (p.Lys101Ile) n.2046A>T c.4232A>T (p.Lys1411Ile) n.4613A>T | dbSNP |
| 19 | g.11041359_11041362delinsAATC | CA2322734750 | SMARCA4 | c.4319_4322delinsAATC (p.Lys1440=) c.4223_4226delinsAATC (p.Lys1408=) c.4124_4127delinsAATC (p.Lys1375=) c.390_393delinsAATC c.350_353delinsAATC (p.Lys117=) c.164_167delinsAATC (p.Lys55=) n.2464_2467delinsAATC c.2717_2720delinsAATC (p.Lys906=) c.1680_1683delinsAATC c.4220_4223delinsAATC (p.Lys1407=) c.2780_2783delinsAATC (p.Lys927=) c.4133_4136delinsAATC (p.Lys1378=) c.2508_2511delinsAATC c.4229_4232delinsAATC (p.Lys1410=) c.2587_2590delinsAATC n.716_719delinsAATC c.3646_3649delinsAATC c.2860_2863delinsAATC c.2895_2898delinsAATC c.2877_2880delinsAATC c.2711_2714delinsAATC (p.Lys904=) c.772_775delinsAATC c.2134_2137delinsAATC (n.2134_2137delinsAATC) c.2566_2569delinsAATC c.2071_2074delinsAATC (n.2071_2074delinsAATC) c.2523_2526delinsAATC n.726_729delinsAATC c.2477_2480delinsAATC (p.Lys826=) c.4325_4328delinsAATC (p.Lys1442=) n.537_540delinsAATC n.2661_2664delinsAATC n.2196_2199delinsAATC c.302_305delinsAATC (p.Lys101=) n.2046_2049delinsAATC c.4232_4235delinsAATC (p.Lys1411=) n.4613_4616delinsAATC | |
| 19 | g.11041360A>C | CA404073004 | SMARCA4 | c.4320A>C (p.Lys1440Asn) c.4224A>C (p.Lys1408Asn) c.4125A>C (p.Lys1375Asn) c.391A>C c.351A>C (p.Lys117Asn) c.165A>C (p.Lys55Asn) n.2465A>C c.2718A>C (p.Lys906Asn) c.1681A>C c.4221A>C (p.Lys1407Asn) c.2781A>C (p.Lys927Asn) c.4134A>C (p.Lys1378Asn) c.2509A>C c.4230A>C (p.Lys1410Asn) c.2588A>C n.717A>C c.3647A>C c.2861A>C c.2896A>C c.2878A>C c.2712A>C (p.Lys904Asn) c.773A>C c.2135A>C (n.2135A>C) c.2567A>C c.2072A>C (n.2072A>C) c.2524A>C n.727A>C c.2478A>C (p.Lys826Asn) c.4326A>C (p.Lys1442Asn) n.538A>C n.2662A>C n.2197A>C c.303A>C (p.Lys101Asn) n.2047A>C c.4233A>C (p.Lys1411Asn) n.4614A>C | dbSNP |
| 19 | g.11041360A>G | CA505743810 | SMARCA4 | c.4320A>G (p.Lys1440=) c.4224A>G (p.Lys1408=) c.4125A>G (p.Lys1375=) c.391A>G c.351A>G (p.Lys117=) c.165A>G (p.Lys55=) n.2465A>G c.2718A>G (p.Lys906=) c.1681A>G c.4221A>G (p.Lys1407=) c.2781A>G (p.Lys927=) c.4134A>G (p.Lys1378=) c.2509A>G c.4230A>G (p.Lys1410=) c.2588A>G n.717A>G c.3647A>G c.2861A>G c.2896A>G c.2878A>G c.2712A>G (p.Lys904=) c.773A>G c.2135A>G (n.2135A>G) c.2567A>G c.2072A>G (n.2072A>G) c.2524A>G n.727A>G c.2478A>G (p.Lys826=) c.4326A>G (p.Lys1442=) n.538A>G n.2662A>G n.2197A>G c.303A>G (p.Lys101=) n.2047A>G c.4233A>G (p.Lys1411=) n.4614A>G | |
| 19 | g.11041360A>T | CA404073005 | SMARCA4 | c.4320A>T (p.Lys1440Asn) c.4224A>T (p.Lys1408Asn) c.4125A>T (p.Lys1375Asn) c.391A>T c.351A>T (p.Lys117Asn) c.165A>T (p.Lys55Asn) n.2465A>T c.2718A>T (p.Lys906Asn) c.1681A>T c.4221A>T (p.Lys1407Asn) c.2781A>T (p.Lys927Asn) c.4134A>T (p.Lys1378Asn) c.2509A>T c.4230A>T (p.Lys1410Asn) c.2588A>T n.717A>T c.3647A>T c.2861A>T c.2896A>T c.2878A>T c.2712A>T (p.Lys904Asn) c.773A>T c.2135A>T (n.2135A>T) c.2567A>T c.2072A>T (n.2072A>T) c.2524A>T n.727A>T c.2478A>T (p.Lys826Asn) c.4326A>T (p.Lys1442Asn) n.538A>T n.2662A>T n.2197A>T c.303A>T (p.Lys101Asn) n.2047A>T c.4233A>T (p.Lys1411Asn) n.4614A>T | dbSNP |
| 19 | g.11041360_11041362delinsGAA | CA2580096248 | SMARCA4 | c.4320_4322delinsGAA (p.Ser1441Lys) c.4224_4226delinsGAA (p.Ser1409Lys) c.4125_4127delinsGAA (p.Ser1376Lys) c.391_393delinsGAA c.351_353delinsGAA (p.Ser118Lys) c.165_167delinsGAA (p.Ser56Lys) n.2465_2467delinsGAA c.2718_2720delinsGAA (p.Ser907Lys) c.1681_1683delinsGAA c.4221_4223delinsGAA (p.Ser1408Lys) c.2781_2783delinsGAA (p.Ser928Lys) c.4134_4136delinsGAA (p.Ser1379Lys) c.2509_2511delinsGAA c.4230_4232delinsGAA (p.Ser1411Lys) c.2588_2590delinsGAA n.717_719delinsGAA c.3647_3649delinsGAA c.2861_2863delinsGAA c.2896_2898delinsGAA c.2878_2880delinsGAA c.2712_2714delinsGAA (p.Ser905Lys) c.773_775delinsGAA c.2135_2137delinsGAA (n.2135_2137delinsGAA) c.2567_2569delinsGAA c.2072_2074delinsGAA (n.2072_2074delinsGAA) c.2524_2526delinsGAA n.727_729delinsGAA c.2478_2480delinsGAA (p.Ser827Lys) c.4326_4328delinsGAA (p.Ser1443Lys) n.538_540delinsGAA n.2662_2664delinsGAA n.2197_2199delinsGAA c.303_305delinsGAA (p.Ser102Lys) n.2047_2049delinsGAA c.4233_4235delinsGAA (p.Ser1412Lys) n.4614_4616delinsGAA | ClinVar |
| 19 | g.11041364_11041366dup | CA2576625602 | SMARCA4 | c.4324_4326dup (p.Ser1442_Arg1443insSer) c.4228_4230dup (p.Ser1410_Arg1411insSer) c.4129_4131dup (p.Ser1377_Arg1378insSer) c.395_397dup c.355_357dup (p.Ser119_Arg120insSer) c.169_171dup (p.Ser57_Arg58insSer) n.2469_2471dup c.2722_2724dup (p.Ser908_Arg909insSer) c.1685_1687dup c.4225_4227dup (p.Ser1409_Arg1410insSer) c.2785_2787dup (p.Ser929_Arg930insSer) c.4138_4140dup (p.Ser1380_Arg1381insSer) c.2513_2515dup c.4234_4236dup (p.Ser1412_Arg1413insSer) c.2592_2594dup n.721_723dup c.3651_3653dup c.2865_2867dup c.2900_2902dup c.2882_2884dup c.2716_2718dup (p.Ser906_Arg907insSer) c.777_779dup c.2139_2141dup (n.2139_2141dup) c.2571_2573dup c.2076_2078dup (n.2076_2078dup) c.2528_2530dup n.731_733dup c.2482_2484dup (p.Ser828_Arg829insSer) c.4330_4332dup (p.Ser1444_Arg1445insSer) n.542_544dup n.2666_2668dup n.2201_2203dup c.307_309dup (p.Ser103_Arg104insSer) n.2051_2053dup c.4237_4239dup (p.Ser1413_Arg1414insSer) n.4618_4620dup | |
| 19 | g.11041364_11041366del | CA915951648 | SMARCA4 | c.4324_4326del (p.Ser1442del) c.4228_4230del (p.Ser1410del) c.4129_4131del (p.Ser1377del) c.395_397del c.355_357del (p.Ser119del) c.169_171del (p.Ser57del) n.2469_2471del c.2722_2724del (p.Ser908del) c.1685_1687del c.4225_4227del (p.Ser1409del) c.2785_2787del (p.Ser929del) c.4138_4140del (p.Ser1380del) c.2513_2515del c.4234_4236del (p.Ser1412del) c.2592_2594del n.721_723del c.3651_3653del c.2865_2867del c.2900_2902del c.2882_2884del c.2716_2718del (p.Ser906del) c.777_779del c.2139_2141del (n.2139_2141del) c.2571_2573del c.2076_2078del (n.2076_2078del) c.2528_2530del n.731_733del c.2482_2484del (p.Ser828del) c.4330_4332del (p.Ser1444del) n.542_544del n.2666_2668del n.2201_2203del c.307_309del (p.Ser103del) n.2051_2053del c.4237_4239del (p.Ser1413del) n.4618_4620del | ClinVar dbSNP gnomAD v4 |
| 19 | g.11041361T>A | CA404073014 | SMARCA4 | c.4321T>A (p.Ser1441Thr) c.4225T>A (p.Ser1409Thr) c.4126T>A (p.Ser1376Thr) c.392T>A c.352T>A (p.Ser118Thr) c.166T>A (p.Ser56Thr) n.2466T>A c.2719T>A (p.Ser907Thr) c.1682T>A c.4222T>A (p.Ser1408Thr) c.2782T>A (p.Ser928Thr) c.4135T>A (p.Ser1379Thr) c.2510T>A c.4231T>A (p.Ser1411Thr) c.2589T>A n.718T>A c.3648T>A c.2862T>A c.2897T>A c.2879T>A c.2713T>A (p.Ser905Thr) c.774T>A c.2136T>A (n.2136T>A) c.2568T>A c.2073T>A (n.2073T>A) c.2525T>A n.728T>A c.2479T>A (p.Ser827Thr) c.4327T>A (p.Ser1443Thr) n.539T>A n.2663T>A n.2198T>A c.304T>A (p.Ser102Thr) n.2048T>A c.4234T>A (p.Ser1412Thr) n.4615T>A | ClinVar dbSNP |
| 19 | g.11041361T>C | CA404073011 | SMARCA4 | c.4321T>C (p.Ser1441Pro) c.4225T>C (p.Ser1409Pro) c.4126T>C (p.Ser1376Pro) c.392T>C c.352T>C (p.Ser118Pro) c.166T>C (p.Ser56Pro) n.2466T>C c.2719T>C (p.Ser907Pro) c.1682T>C c.4222T>C (p.Ser1408Pro) c.2782T>C (p.Ser928Pro) c.4135T>C (p.Ser1379Pro) c.2510T>C c.4231T>C (p.Ser1411Pro) c.2589T>C n.718T>C c.3648T>C c.2862T>C c.2897T>C c.2879T>C c.2713T>C (p.Ser905Pro) c.774T>C c.2136T>C (n.2136T>C) c.2568T>C c.2073T>C (n.2073T>C) c.2525T>C n.728T>C c.2479T>C (p.Ser827Pro) c.4327T>C (p.Ser1443Pro) n.539T>C n.2663T>C n.2198T>C c.304T>C (p.Ser102Pro) n.2048T>C c.4234T>C (p.Ser1412Pro) n.4615T>C | dbSNP |
| 19 | g.11041361T>G | CA404073008 | SMARCA4 | c.4321T>G (p.Ser1441Ala) c.4225T>G (p.Ser1409Ala) c.4126T>G (p.Ser1376Ala) c.392T>G c.352T>G (p.Ser118Ala) c.166T>G (p.Ser56Ala) n.2466T>G c.2719T>G (p.Ser907Ala) c.1682T>G c.4222T>G (p.Ser1408Ala) c.2782T>G (p.Ser928Ala) c.4135T>G (p.Ser1379Ala) c.2510T>G c.4231T>G (p.Ser1411Ala) c.2589T>G n.718T>G c.3648T>G c.2862T>G c.2897T>G c.2879T>G c.2713T>G (p.Ser905Ala) c.774T>G c.2136T>G (n.2136T>G) c.2568T>G c.2073T>G (n.2073T>G) c.2525T>G n.728T>G c.2479T>G (p.Ser827Ala) c.4327T>G (p.Ser1443Ala) n.539T>G n.2663T>G n.2198T>G c.304T>G (p.Ser102Ala) n.2048T>G c.4234T>G (p.Ser1412Ala) n.4615T>G | dbSNP |
| 19 | g.11041362C>A | CA404073019 | SMARCA4 | c.4322C>A (p.Ser1441Ter) c.4226C>A (p.Ser1409Ter) c.4127C>A (p.Ser1376Ter) c.393C>A c.353C>A (p.Ser118Ter) c.167C>A (p.Ser56Ter) n.2467C>A c.2720C>A (p.Ser907Ter) c.1683C>A c.4223C>A (p.Ser1408Ter) c.2783C>A (p.Ser928Ter) c.4136C>A (p.Ser1379Ter) c.2511C>A c.4232C>A (p.Ser1411Ter) c.2590C>A n.719C>A c.3649C>A c.2863C>A c.2898C>A c.2880C>A c.2714C>A (p.Ser905Ter) c.775C>A c.2137C>A (n.2137C>A) c.2569C>A c.2074C>A (n.2074C>A) c.2526C>A n.729C>A c.2480C>A (p.Ser827Ter) c.4328C>A (p.Ser1443Ter) n.540C>A n.2664C>A n.2199C>A c.305C>A (p.Ser102Ter) n.2049C>A c.4235C>A (p.Ser1412Ter) n.4616C>A | dbSNP COSMIC COSMIC |
| 19 | g.11041362C>G | CA404073018 | SMARCA4 | c.4322C>G (p.Ser1441Ter) c.4226C>G (p.Ser1409Ter) c.4127C>G (p.Ser1376Ter) c.393C>G c.353C>G (p.Ser118Ter) c.167C>G (p.Ser56Ter) n.2467C>G c.2720C>G (p.Ser907Ter) c.1683C>G c.4223C>G (p.Ser1408Ter) c.2783C>G (p.Ser928Ter) c.4136C>G (p.Ser1379Ter) c.2511C>G c.4232C>G (p.Ser1411Ter) c.2590C>G n.719C>G c.3649C>G c.2863C>G c.2898C>G c.2880C>G c.2714C>G (p.Ser905Ter) c.775C>G c.2137C>G (n.2137C>G) c.2569C>G c.2074C>G (n.2074C>G) c.2526C>G n.729C>G c.2480C>G (p.Ser827Ter) c.4328C>G (p.Ser1443Ter) n.540C>G n.2664C>G n.2199C>G c.305C>G (p.Ser102Ter) n.2049C>G c.4235C>G (p.Ser1412Ter) n.4616C>G | dbSNP |
| 19 | g.11041362C>T | CA404073020 | SMARCA4 | c.4322C>T (p.Ser1441Leu) c.4226C>T (p.Ser1409Leu) c.4127C>T (p.Ser1376Leu) c.393C>T c.353C>T (p.Ser118Leu) c.167C>T (p.Ser56Leu) n.2467C>T c.2720C>T (p.Ser907Leu) c.1683C>T c.4223C>T (p.Ser1408Leu) c.2783C>T (p.Ser928Leu) c.4136C>T (p.Ser1379Leu) c.2511C>T c.4232C>T (p.Ser1411Leu) c.2590C>T n.719C>T c.3649C>T c.2863C>T c.2898C>T c.2880C>T c.2714C>T (p.Ser905Leu) c.775C>T c.2137C>T (n.2137C>T) c.2569C>T c.2074C>T (n.2074C>T) c.2526C>T n.729C>T c.2480C>T (p.Ser827Leu) c.4328C>T (p.Ser1443Leu) n.540C>T n.2664C>T n.2199C>T c.305C>T (p.Ser102Leu) n.2049C>T c.4235C>T (p.Ser1412Leu) n.4616C>T | dbSNP |
| 19 | g.11041363A= | CA2322734758 | SMARCA4 | c.4323A= (p.Ser1441=) c.4227A= (p.Ser1409=) c.4128A= (p.Ser1376=) c.394A= c.354A= (p.Ser118=) c.168A= (p.Ser56=) n.2468A= c.2721A= (p.Ser907=) c.1684A= c.4224A= (p.Ser1408=) c.2784A= (p.Ser928=) c.4137A= (p.Ser1379=) c.2512A= c.4233A= (p.Ser1411=) c.2591A= n.720A= c.3650A= c.2864A= c.2899A= c.2881A= c.2715A= (p.Ser905=) c.776A= c.2138A= (n.2138A=) c.2570A= c.2075A= (n.2075A=) c.2527A= n.730A= c.2481A= (p.Ser827=) c.4329A= (p.Ser1443=) n.541A= n.2665A= n.2200A= c.306A= (p.Ser102=) n.2050A= c.4236A= (p.Ser1412=) n.4617A= | |
| 19 | g.11041363A>C | CA505743811 | SMARCA4 | c.4323A>C (p.Ser1441=) c.4227A>C (p.Ser1409=) c.4128A>C (p.Ser1376=) c.394A>C c.354A>C (p.Ser118=) c.168A>C (p.Ser56=) n.2468A>C c.2721A>C (p.Ser907=) c.1684A>C c.4224A>C (p.Ser1408=) c.2784A>C (p.Ser928=) c.4137A>C (p.Ser1379=) c.2512A>C c.4233A>C (p.Ser1411=) c.2591A>C n.720A>C c.3650A>C c.2864A>C c.2899A>C c.2881A>C c.2715A>C (p.Ser905=) c.776A>C c.2138A>C (n.2138A>C) c.2570A>C c.2075A>C (n.2075A>C) c.2527A>C n.730A>C c.2481A>C (p.Ser827=) c.4329A>C (p.Ser1443=) n.541A>C n.2665A>C n.2200A>C c.306A>C (p.Ser102=) n.2050A>C c.4236A>C (p.Ser1412=) n.4617A>C | ClinVar dbSNP |
| 19 | g.11041363A>G | CA9204677 | SMARCA4 | c.4323A>G (p.Ser1441=) c.4227A>G (p.Ser1409=) c.4128A>G (p.Ser1376=) c.394A>G c.354A>G (p.Ser118=) c.168A>G (p.Ser56=) n.2468A>G c.2721A>G (p.Ser907=) c.1684A>G c.4224A>G (p.Ser1408=) c.2784A>G (p.Ser928=) c.4137A>G (p.Ser1379=) c.2512A>G c.4233A>G (p.Ser1411=) c.2591A>G n.720A>G c.3650A>G c.2864A>G c.2899A>G c.2881A>G c.2715A>G (p.Ser905=) c.776A>G c.2138A>G (n.2138A>G) c.2570A>G c.2075A>G (n.2075A>G) c.2527A>G n.730A>G c.2481A>G (p.Ser827=) c.4329A>G (p.Ser1443=) n.541A>G n.2665A>G n.2200A>G c.306A>G (p.Ser102=) n.2050A>G c.4236A>G (p.Ser1412=) n.4617A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11041363A>T | CA16616187 | SMARCA4 | c.4323A>T (p.Ser1441=) c.4227A>T (p.Ser1409=) c.4128A>T (p.Ser1376=) c.394A>T c.354A>T (p.Ser118=) c.168A>T (p.Ser56=) n.2468A>T c.2721A>T (p.Ser907=) c.1684A>T c.4224A>T (p.Ser1408=) c.2784A>T (p.Ser928=) c.4137A>T (p.Ser1379=) c.2512A>T c.4233A>T (p.Ser1411=) c.2591A>T n.720A>T c.3650A>T c.2864A>T c.2899A>T c.2881A>T c.2715A>T (p.Ser905=) c.776A>T c.2138A>T (n.2138A>T) c.2570A>T c.2075A>T (n.2075A>T) c.2527A>T n.730A>T c.2481A>T (p.Ser827=) c.4329A>T (p.Ser1443=) n.541A>T n.2665A>T n.2200A>T c.306A>T (p.Ser102=) n.2050A>T c.4236A>T (p.Ser1412=) n.4617A>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11041364T>A | CA404073026 | SMARCA4 | c.4324T>A (p.Ser1442Thr) c.4228T>A (p.Ser1410Thr) c.4129T>A (p.Ser1377Thr) c.395T>A c.355T>A (p.Ser119Thr) c.169T>A (p.Ser57Thr) n.2469T>A c.2722T>A (p.Ser908Thr) c.1685T>A c.4225T>A (p.Ser1409Thr) c.2785T>A (p.Ser929Thr) c.4138T>A (p.Ser1380Thr) c.2513T>A c.4234T>A (p.Ser1412Thr) c.2592T>A n.721T>A c.3651T>A c.2865T>A c.2900T>A c.2882T>A c.2716T>A (p.Ser906Thr) c.777T>A c.2139T>A (n.2139T>A) c.2571T>A c.2076T>A (n.2076T>A) c.2528T>A n.731T>A c.2482T>A (p.Ser828Thr) c.4330T>A (p.Ser1444Thr) n.542T>A n.2666T>A n.2201T>A c.307T>A (p.Ser103Thr) n.2051T>A c.4237T>A (p.Ser1413Thr) n.4618T>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.11041364T>C | CA404073029 | SMARCA4 | c.4324T>C (p.Ser1442Pro) c.4228T>C (p.Ser1410Pro) c.4129T>C (p.Ser1377Pro) c.395T>C c.355T>C (p.Ser119Pro) c.169T>C (p.Ser57Pro) n.2469T>C c.2722T>C (p.Ser908Pro) c.1685T>C c.4225T>C (p.Ser1409Pro) c.2785T>C (p.Ser929Pro) c.4138T>C (p.Ser1380Pro) c.2513T>C c.4234T>C (p.Ser1412Pro) c.2592T>C n.721T>C c.3651T>C c.2865T>C c.2900T>C c.2882T>C c.2716T>C (p.Ser906Pro) c.777T>C c.2139T>C (n.2139T>C) c.2571T>C c.2076T>C (n.2076T>C) c.2528T>C n.731T>C c.2482T>C (p.Ser828Pro) c.4330T>C (p.Ser1444Pro) n.542T>C n.2666T>C n.2201T>C c.307T>C (p.Ser103Pro) n.2051T>C c.4237T>C (p.Ser1413Pro) n.4618T>C | dbSNP |
| 19 | g.11041364T>G | CA404073032 | SMARCA4 | c.4324T>G (p.Ser1442Ala) c.4228T>G (p.Ser1410Ala) c.4129T>G (p.Ser1377Ala) c.395T>G c.355T>G (p.Ser119Ala) c.169T>G (p.Ser57Ala) n.2469T>G c.2722T>G (p.Ser908Ala) c.1685T>G c.4225T>G (p.Ser1409Ala) c.2785T>G (p.Ser929Ala) c.4138T>G (p.Ser1380Ala) c.2513T>G c.4234T>G (p.Ser1412Ala) c.2592T>G n.721T>G c.3651T>G c.2865T>G c.2900T>G c.2882T>G c.2716T>G (p.Ser906Ala) c.777T>G c.2139T>G (n.2139T>G) c.2571T>G c.2076T>G (n.2076T>G) c.2528T>G n.731T>G c.2482T>G (p.Ser828Ala) c.4330T>G (p.Ser1444Ala) n.542T>G n.2666T>G n.2201T>G c.307T>G (p.Ser103Ala) n.2051T>G c.4237T>G (p.Ser1413Ala) n.4618T>G | dbSNP |
| 19 | g.11041364T= | CA2322734765 | SMARCA4 | c.4324T= (p.Ser1442=) c.4228T= (p.Ser1410=) c.4129T= (p.Ser1377=) c.395T= c.355T= (p.Ser119=) c.169T= (p.Ser57=) n.2469T= c.2722T= (p.Ser908=) c.1685T= c.4225T= (p.Ser1409=) c.2785T= (p.Ser929=) c.4138T= (p.Ser1380=) c.2513T= c.4234T= (p.Ser1412=) c.2592T= n.721T= c.3651T= c.2865T= c.2900T= c.2882T= c.2716T= (p.Ser906=) c.777T= c.2139T= (n.2139T=) c.2571T= c.2076T= (n.2076T=) c.2528T= n.731T= c.2482T= (p.Ser828=) c.4330T= (p.Ser1444=) n.542T= n.2666T= n.2201T= c.307T= (p.Ser103=) n.2051T= c.4237T= (p.Ser1413=) n.4618T= | |
| 19 | g.11041365C>A | CA404073035 | SMARCA4 | c.4325C>A (p.Ser1442Ter) c.4229C>A (p.Ser1410Ter) c.4130C>A (p.Ser1377Ter) c.396C>A c.356C>A (p.Ser119Ter) c.170C>A (p.Ser57Ter) n.2470C>A c.2723C>A (p.Ser908Ter) c.1686C>A c.4226C>A (p.Ser1409Ter) c.2786C>A (p.Ser929Ter) c.4139C>A (p.Ser1380Ter) c.2514C>A c.4235C>A (p.Ser1412Ter) c.2593C>A n.722C>A c.3652C>A c.2866C>A c.2901C>A c.2883C>A c.2717C>A (p.Ser906Ter) c.778C>A c.2140C>A (n.2140C>A) c.2572C>A c.2077C>A (n.2077C>A) c.2529C>A n.732C>A c.2483C>A (p.Ser828Ter) c.4331C>A (p.Ser1444Ter) n.543C>A n.2667C>A n.2202C>A c.308C>A (p.Ser103Ter) n.2052C>A c.4238C>A (p.Ser1413Ter) n.4619C>A | dbSNP |
| 19 | g.11041365C>G | CA404073036 | SMARCA4 | c.4325C>G (p.Ser1442Ter) c.4229C>G (p.Ser1410Ter) c.4130C>G (p.Ser1377Ter) c.396C>G c.356C>G (p.Ser119Ter) c.170C>G (p.Ser57Ter) n.2470C>G c.2723C>G (p.Ser908Ter) c.1686C>G c.4226C>G (p.Ser1409Ter) c.2786C>G (p.Ser929Ter) c.4139C>G (p.Ser1380Ter) c.2514C>G c.4235C>G (p.Ser1412Ter) c.2593C>G n.722C>G c.3652C>G c.2866C>G c.2901C>G c.2883C>G c.2717C>G (p.Ser906Ter) c.778C>G c.2140C>G (n.2140C>G) c.2572C>G c.2077C>G (n.2077C>G) c.2529C>G n.732C>G c.2483C>G (p.Ser828Ter) c.4331C>G (p.Ser1444Ter) n.543C>G n.2667C>G n.2202C>G c.308C>G (p.Ser103Ter) n.2052C>G c.4238C>G (p.Ser1413Ter) n.4619C>G | dbSNP |
| 19 | g.11041365C>T | CA404073037 | SMARCA4 | c.4325C>T (p.Ser1442Leu) c.4229C>T (p.Ser1410Leu) c.4130C>T (p.Ser1377Leu) c.396C>T c.356C>T (p.Ser119Leu) c.170C>T (p.Ser57Leu) n.2470C>T c.2723C>T (p.Ser908Leu) c.1686C>T c.4226C>T (p.Ser1409Leu) c.2786C>T (p.Ser929Leu) c.4139C>T (p.Ser1380Leu) c.2514C>T c.4235C>T (p.Ser1412Leu) c.2593C>T n.722C>T c.3652C>T c.2866C>T c.2901C>T c.2883C>T c.2717C>T (p.Ser906Leu) c.778C>T c.2140C>T (n.2140C>T) c.2572C>T c.2077C>T (n.2077C>T) c.2529C>T n.732C>T c.2483C>T (p.Ser828Leu) c.4331C>T (p.Ser1444Leu) n.543C>T n.2667C>T n.2202C>T c.308C>T (p.Ser103Leu) n.2052C>T c.4238C>T (p.Ser1413Leu) n.4619C>T | dbSNP |
| 19 | g.11041366A>C | CA505743812 | SMARCA4 | c.4326A>C (p.Ser1442=) c.4230A>C (p.Ser1410=) c.4131A>C (p.Ser1377=) c.397A>C c.357A>C (p.Ser119=) c.171A>C (p.Ser57=) n.2471A>C c.2724A>C (p.Ser908=) c.1687A>C c.4227A>C (p.Ser1409=) c.2787A>C (p.Ser929=) c.4140A>C (p.Ser1380=) c.2515A>C c.4236A>C (p.Ser1412=) c.2594A>C n.723A>C c.3653A>C c.2867A>C c.2902A>C c.2884A>C c.2718A>C (p.Ser906=) c.779A>C c.2141A>C (n.2141A>C) c.2573A>C c.2078A>C (n.2078A>C) c.2530A>C n.733A>C c.2484A>C (p.Ser828=) c.4332A>C (p.Ser1444=) n.544A>C n.2668A>C n.2203A>C c.309A>C (p.Ser103=) n.2053A>C c.4239A>C (p.Ser1413=) n.4620A>C | dbSNP |
| 19 | g.11041366A>G | CA505743813 | SMARCA4 | c.4326A>G (p.Ser1442=) c.4230A>G (p.Ser1410=) c.4131A>G (p.Ser1377=) c.397A>G c.357A>G (p.Ser119=) c.171A>G (p.Ser57=) n.2471A>G c.2724A>G (p.Ser908=) c.1687A>G c.4227A>G (p.Ser1409=) c.2787A>G (p.Ser929=) c.4140A>G (p.Ser1380=) c.2515A>G c.4236A>G (p.Ser1412=) c.2594A>G n.723A>G c.3653A>G c.2867A>G c.2902A>G c.2884A>G c.2718A>G (p.Ser906=) c.779A>G c.2141A>G (n.2141A>G) c.2573A>G c.2078A>G (n.2078A>G) c.2530A>G n.733A>G c.2484A>G (p.Ser828=) c.4332A>G (p.Ser1444=) n.544A>G n.2668A>G n.2203A>G c.309A>G (p.Ser103=) n.2053A>G c.4239A>G (p.Ser1413=) n.4620A>G | ClinVar dbSNP gnomAD v4 |
| 19 | g.11041366A>T | CA505743814 | SMARCA4 | c.4326A>T (p.Ser1442=) c.4230A>T (p.Ser1410=) c.4131A>T (p.Ser1377=) c.397A>T c.357A>T (p.Ser119=) c.171A>T (p.Ser57=) n.2471A>T c.2724A>T (p.Ser908=) c.1687A>T c.4227A>T (p.Ser1409=) c.2787A>T (p.Ser929=) c.4140A>T (p.Ser1380=) c.2515A>T c.4236A>T (p.Ser1412=) c.2594A>T n.723A>T c.3653A>T c.2867A>T c.2902A>T c.2884A>T c.2718A>T (p.Ser906=) c.779A>T c.2141A>T (n.2141A>T) c.2573A>T c.2078A>T (n.2078A>T) c.2530A>T n.733A>T c.2484A>T (p.Ser828=) c.4332A>T (p.Ser1444=) n.544A>T n.2668A>T n.2203A>T c.309A>T (p.Ser103=) n.2053A>T c.4239A>T (p.Ser1413=) n.4620A>T | dbSNP |
| 19 | g.11041367C>A | CA505743815 | SMARCA4 | c.4327C>A (p.Arg1443=) c.4231C>A (p.Arg1411=) c.4132C>A (p.Arg1378=) c.398C>A c.358C>A (p.Arg120=) c.172C>A (p.Arg58=) n.2472C>A c.2725C>A (p.Arg909=) c.1688C>A c.4228C>A (p.Arg1410=) c.2788C>A (p.Arg930=) c.4141C>A (p.Arg1381=) c.2516C>A c.4237C>A (p.Arg1413=) c.2595C>A n.724C>A c.3654C>A c.2868C>A c.2903C>A c.2885C>A c.2719C>A (p.Arg907=) c.780C>A c.2142C>A (n.2142C>A) c.2574C>A c.2079C>A (n.2079C>A) c.2531C>A n.734C>A c.2485C>A (p.Arg829=) c.4333C>A (p.Arg1445=) n.545C>A n.2669C>A n.2204C>A c.310C>A (p.Arg104=) n.2054C>A c.4240C>A (p.Arg1414=) n.4621C>A | ClinVar |
| 19 | g.11041367C= | CA2322734770 | SMARCA4 | c.4327C= (p.Arg1443=) c.4231C= (p.Arg1411=) c.4132C= (p.Arg1378=) c.398C= c.358C= (p.Arg120=) c.172C= (p.Arg58=) n.2472C= c.2725C= (p.Arg909=) c.1688C= c.4228C= (p.Arg1410=) c.2788C= (p.Arg930=) c.4141C= (p.Arg1381=) c.2516C= c.4237C= (p.Arg1413=) c.2595C= n.724C= c.3654C= c.2868C= c.2903C= c.2885C= c.2719C= (p.Arg907=) c.780C= c.2142C= (n.2142C=) c.2574C= c.2079C= (n.2079C=) c.2531C= n.734C= c.2485C= (p.Arg829=) c.4333C= (p.Arg1445=) n.545C= n.2669C= n.2204C= c.310C= (p.Arg104=) n.2054C= c.4240C= (p.Arg1414=) n.4621C= | |
| 19 | g.11041367C>G | CA404073041 | SMARCA4 | c.4327C>G (p.Arg1443Gly) c.4231C>G (p.Arg1411Gly) c.4132C>G (p.Arg1378Gly) c.398C>G c.358C>G (p.Arg120Gly) c.172C>G (p.Arg58Gly) n.2472C>G c.2725C>G (p.Arg909Gly) c.1688C>G c.4228C>G (p.Arg1410Gly) c.2788C>G (p.Arg930Gly) c.4141C>G (p.Arg1381Gly) c.2516C>G c.4237C>G (p.Arg1413Gly) c.2595C>G n.724C>G c.3654C>G c.2868C>G c.2903C>G c.2885C>G c.2719C>G (p.Arg907Gly) c.780C>G c.2142C>G (n.2142C>G) c.2574C>G c.2079C>G (n.2079C>G) c.2531C>G n.734C>G c.2485C>G (p.Arg829Gly) c.4333C>G (p.Arg1445Gly) n.545C>G n.2669C>G n.2204C>G c.310C>G (p.Arg104Gly) n.2054C>G c.4240C>G (p.Arg1414Gly) n.4621C>G | dbSNP |
| 19 | g.11041367C>T | CA9204678 | SMARCA4 | c.4327C>T (p.Arg1443Trp) c.4231C>T (p.Arg1411Trp) c.4132C>T (p.Arg1378Trp) c.398C>T c.358C>T (p.Arg120Trp) c.172C>T (p.Arg58Trp) n.2472C>T c.2725C>T (p.Arg909Trp) c.1688C>T c.4228C>T (p.Arg1410Trp) c.2788C>T (p.Arg930Trp) c.4141C>T (p.Arg1381Trp) c.2516C>T c.4237C>T (p.Arg1413Trp) c.2595C>T n.724C>T c.3654C>T c.2868C>T c.2903C>T c.2885C>T c.2719C>T (p.Arg907Trp) c.780C>T c.2142C>T (n.2142C>T) c.2574C>T c.2079C>T (n.2079C>T) c.2531C>T n.734C>T c.2485C>T (p.Arg829Trp) c.4333C>T (p.Arg1445Trp) n.545C>T n.2669C>T n.2204C>T c.310C>T (p.Arg104Trp) n.2054C>T c.4240C>T (p.Arg1414Trp) n.4621C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 19 | g.11041368G>A | CA10642189 | SMARCA4 | c.4328G>A (p.Arg1443Gln) c.4232G>A (p.Arg1411Gln) c.4133G>A (p.Arg1378Gln) c.399G>A c.359G>A (p.Arg120Gln) c.173G>A (p.Arg58Gln) n.2473G>A c.2726G>A (p.Arg909Gln) c.1689G>A c.4229G>A (p.Arg1410Gln) c.2789G>A (p.Arg930Gln) c.4142G>A (p.Arg1381Gln) c.2517G>A c.4238G>A (p.Arg1413Gln) c.2596G>A n.725G>A c.3655G>A c.2869G>A c.2904G>A c.2886G>A c.2720G>A (p.Arg907Gln) c.781G>A c.2143G>A (n.2143G>A) c.2575G>A c.2080G>A (n.2080G>A) c.2532G>A n.735G>A c.2486G>A (p.Arg829Gln) c.4334G>A (p.Arg1445Gln) n.546G>A n.2670G>A n.2205G>A c.311G>A (p.Arg104Gln) n.2055G>A c.4241G>A (p.Arg1414Gln) n.4622G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 19 | g.11041368G>C | CA404073049 | SMARCA4 | c.4328G>C (p.Arg1443Pro) c.4232G>C (p.Arg1411Pro) c.4133G>C (p.Arg1378Pro) c.399G>C c.359G>C (p.Arg120Pro) c.173G>C (p.Arg58Pro) n.2473G>C c.2726G>C (p.Arg909Pro) c.1689G>C c.4229G>C (p.Arg1410Pro) c.2789G>C (p.Arg930Pro) c.4142G>C (p.Arg1381Pro) c.2517G>C c.4238G>C (p.Arg1413Pro) c.2596G>C n.725G>C c.3655G>C c.2869G>C c.2904G>C c.2886G>C c.2720G>C (p.Arg907Pro) c.781G>C c.2143G>C (n.2143G>C) c.2575G>C c.2080G>C (n.2080G>C) c.2532G>C n.735G>C c.2486G>C (p.Arg829Pro) c.4334G>C (p.Arg1445Pro) n.546G>C n.2670G>C n.2205G>C c.311G>C (p.Arg104Pro) n.2055G>C c.4241G>C (p.Arg1414Pro) n.4622G>C | dbSNP |
| 19 | g.11041368G= | CA2322734778 | SMARCA4 | c.4328G= (p.Arg1443=) c.4232G= (p.Arg1411=) c.4133G= (p.Arg1378=) c.399G= c.359G= (p.Arg120=) c.173G= (p.Arg58=) n.2473G= c.2726G= (p.Arg909=) c.1689G= c.4229G= (p.Arg1410=) c.2789G= (p.Arg930=) c.4142G= (p.Arg1381=) c.2517G= c.4238G= (p.Arg1413=) c.2596G= n.725G= c.3655G= c.2869G= c.2904G= c.2886G= c.2720G= (p.Arg907=) c.781G= c.2143G= (n.2143G=) c.2575G= c.2080G= (n.2080G=) c.2532G= n.735G= c.2486G= (p.Arg829=) c.4334G= (p.Arg1445=) n.546G= n.2670G= n.2205G= c.311G= (p.Arg104=) n.2055G= c.4241G= (p.Arg1414=) n.4622G= | |
| 19 | g.11041368G>T | CA404073050 | SMARCA4 | c.4328G>T (p.Arg1443Leu) c.4232G>T (p.Arg1411Leu) c.4133G>T (p.Arg1378Leu) c.399G>T c.359G>T (p.Arg120Leu) c.173G>T (p.Arg58Leu) n.2473G>T c.2726G>T (p.Arg909Leu) c.1689G>T c.4229G>T (p.Arg1410Leu) c.2789G>T (p.Arg930Leu) c.4142G>T (p.Arg1381Leu) c.2517G>T c.4238G>T (p.Arg1413Leu) c.2596G>T n.725G>T c.3655G>T c.2869G>T c.2904G>T c.2886G>T c.2720G>T (p.Arg907Leu) c.781G>T c.2143G>T (n.2143G>T) c.2575G>T c.2080G>T (n.2080G>T) c.2532G>T n.735G>T c.2486G>T (p.Arg829Leu) c.4334G>T (p.Arg1445Leu) n.546G>T n.2670G>T n.2205G>T c.311G>T (p.Arg104Leu) n.2055G>T c.4241G>T (p.Arg1414Leu) n.4622G>T | dbSNP |
| 19 | g.11041369G>A | CA505743818 | SMARCA4 | c.4329G>A (p.Arg1443=) c.4233G>A (p.Arg1411=) c.4134G>A (p.Arg1378=) c.400G>A c.360G>A (p.Arg120=) c.174G>A (p.Arg58=) n.2474G>A c.2727G>A (p.Arg909=) c.1690G>A c.4230G>A (p.Arg1410=) c.2790G>A (p.Arg930=) c.4143G>A (p.Arg1381=) c.2518G>A c.4239G>A (p.Arg1413=) c.2597G>A n.726G>A c.3656G>A c.2870G>A c.2905G>A c.2887G>A c.2721G>A (p.Arg907=) c.782G>A c.2144G>A (n.2144G>A) c.2576G>A c.2081G>A (n.2081G>A) c.2533G>A n.736G>A c.2487G>A (p.Arg829=) c.4335G>A (p.Arg1445=) n.547G>A n.2671G>A n.2206G>A c.312G>A (p.Arg104=) n.2056G>A c.4242G>A (p.Arg1414=) n.4623G>A | ClinVar dbSNP COSMIC |
| 19 | g.11041369G>C | CA505743816 | SMARCA4 | c.4329G>C (p.Arg1443=) c.4233G>C (p.Arg1411=) c.4134G>C (p.Arg1378=) c.400G>C c.360G>C (p.Arg120=) c.174G>C (p.Arg58=) n.2474G>C c.2727G>C (p.Arg909=) c.1690G>C c.4230G>C (p.Arg1410=) c.2790G>C (p.Arg930=) c.4143G>C (p.Arg1381=) c.2518G>C c.4239G>C (p.Arg1413=) c.2597G>C n.726G>C c.3656G>C c.2870G>C c.2905G>C c.2887G>C c.2721G>C (p.Arg907=) c.782G>C c.2144G>C (n.2144G>C) c.2576G>C c.2081G>C (n.2081G>C) c.2533G>C n.736G>C c.2487G>C (p.Arg829=) c.4335G>C (p.Arg1445=) n.547G>C n.2671G>C n.2206G>C c.312G>C (p.Arg104=) n.2056G>C c.4242G>C (p.Arg1414=) n.4623G>C | ClinVar dbSNP |
| 19 | g.11041369G>T | CA505743817 | SMARCA4 | c.4329G>T (p.Arg1443=) c.4233G>T (p.Arg1411=) c.4134G>T (p.Arg1378=) c.400G>T c.360G>T (p.Arg120=) c.174G>T (p.Arg58=) n.2474G>T c.2727G>T (p.Arg909=) c.1690G>T c.4230G>T (p.Arg1410=) c.2790G>T (p.Arg930=) c.4143G>T (p.Arg1381=) c.2518G>T c.4239G>T (p.Arg1413=) c.2597G>T n.726G>T c.3656G>T c.2870G>T c.2905G>T c.2887G>T c.2721G>T (p.Arg907=) c.782G>T c.2144G>T (n.2144G>T) c.2576G>T c.2081G>T (n.2081G>T) c.2533G>T n.736G>T c.2487G>T (p.Arg829=) c.4335G>T (p.Arg1445=) n.547G>T n.2671G>T n.2206G>T c.312G>T (p.Arg104=) n.2056G>T c.4242G>T (p.Arg1414=) n.4623G>T | |
| 19 | g.11041370A>C | CA404073059 | SMARCA4 | c.4330A>C (p.Lys1444Gln) c.4234A>C (p.Lys1412Gln) c.4135A>C (p.Lys1379Gln) c.401A>C c.361A>C (p.Lys121Gln) c.175A>C (p.Lys59Gln) n.2475A>C c.2728A>C (p.Lys910Gln) c.1691A>C c.4231A>C (p.Lys1411Gln) c.2791A>C (p.Lys931Gln) c.4144A>C (p.Lys1382Gln) c.2519A>C c.4240A>C (p.Lys1414Gln) c.2598A>C n.727A>C c.3657A>C c.2871A>C c.2906A>C c.2888A>C c.2722A>C (p.Lys908Gln) c.783A>C c.2145A>C (n.2145A>C) c.2577A>C c.2082A>C (n.2082A>C) c.2534A>C n.737A>C c.2488A>C (p.Lys830Gln) c.4336A>C (p.Lys1446Gln) n.548A>C n.2672A>C n.2207A>C c.313A>C (p.Lys105Gln) n.2057A>C c.4243A>C (p.Lys1415Gln) n.4624A>C | |
| 19 | g.11041370A>G | CA404073053 | SMARCA4 | c.4330A>G (p.Lys1444Glu) c.4234A>G (p.Lys1412Glu) c.4135A>G (p.Lys1379Glu) c.401A>G c.361A>G (p.Lys121Glu) c.175A>G (p.Lys59Glu) n.2475A>G c.2728A>G (p.Lys910Glu) c.1691A>G c.4231A>G (p.Lys1411Glu) c.2791A>G (p.Lys931Glu) c.4144A>G (p.Lys1382Glu) c.2519A>G c.4240A>G (p.Lys1414Glu) c.2598A>G n.727A>G c.3657A>G c.2871A>G c.2906A>G c.2888A>G c.2722A>G (p.Lys908Glu) c.783A>G c.2145A>G (n.2145A>G) c.2577A>G c.2082A>G (n.2082A>G) c.2534A>G n.737A>G c.2488A>G (p.Lys830Glu) c.4336A>G (p.Lys1446Glu) n.548A>G n.2672A>G n.2207A>G c.313A>G (p.Lys105Glu) n.2057A>G c.4243A>G (p.Lys1415Glu) n.4624A>G | |
| 19 | g.11041370A>T | CA404073056 | SMARCA4 | c.4330A>T (p.Lys1444Ter) c.4234A>T (p.Lys1412Ter) c.4135A>T (p.Lys1379Ter) c.401A>T c.361A>T (p.Lys121Ter) c.175A>T (p.Lys59Ter) n.2475A>T c.2728A>T (p.Lys910Ter) c.1691A>T c.4231A>T (p.Lys1411Ter) c.2791A>T (p.Lys931Ter) c.4144A>T (p.Lys1382Ter) c.2519A>T c.4240A>T (p.Lys1414Ter) c.2598A>T n.727A>T c.3657A>T c.2871A>T c.2906A>T c.2888A>T c.2722A>T (p.Lys908Ter) c.783A>T c.2145A>T (n.2145A>T) c.2577A>T c.2082A>T (n.2082A>T) c.2534A>T n.737A>T c.2488A>T (p.Lys830Ter) c.4336A>T (p.Lys1446Ter) n.548A>T n.2672A>T n.2207A>T c.313A>T (p.Lys105Ter) n.2057A>T c.4243A>T (p.Lys1415Ter) n.4624A>T | dbSNP |
| 19 | g.11041371A>C | CA404073062 | SMARCA4 | c.4331A>C (p.Lys1444Thr) c.4235A>C (p.Lys1412Thr) c.4136A>C (p.Lys1379Thr) c.402A>C c.362A>C (p.Lys121Thr) c.176A>C (p.Lys59Thr) n.2476A>C c.2729A>C (p.Lys910Thr) c.1692A>C c.4232A>C (p.Lys1411Thr) c.2792A>C (p.Lys931Thr) c.4145A>C (p.Lys1382Thr) c.2520A>C c.4241A>C (p.Lys1414Thr) c.2599A>C n.728A>C c.3658A>C c.2872A>C c.2907A>C c.2889A>C c.2723A>C (p.Lys908Thr) c.784A>C c.2146A>C (n.2146A>C) c.2578A>C c.2083A>C (n.2083A>C) c.2535A>C n.738A>C c.2489A>C (p.Lys830Thr) c.4337A>C (p.Lys1446Thr) n.549A>C n.2673A>C n.2208A>C c.314A>C (p.Lys105Thr) n.2058A>C c.4244A>C (p.Lys1415Thr) n.4625A>C | |
| 19 | g.11041371A>G | CA404073064 | SMARCA4 | c.4331A>G (p.Lys1444Arg) c.4235A>G (p.Lys1412Arg) c.4136A>G (p.Lys1379Arg) c.402A>G c.362A>G (p.Lys121Arg) c.176A>G (p.Lys59Arg) n.2476A>G c.2729A>G (p.Lys910Arg) c.1692A>G c.4232A>G (p.Lys1411Arg) c.2792A>G (p.Lys931Arg) c.4145A>G (p.Lys1382Arg) c.2520A>G c.4241A>G (p.Lys1414Arg) c.2599A>G n.728A>G c.3658A>G c.2872A>G c.2907A>G c.2889A>G c.2723A>G (p.Lys908Arg) c.784A>G c.2146A>G (n.2146A>G) c.2578A>G c.2083A>G (n.2083A>G) c.2535A>G n.738A>G c.2489A>G (p.Lys830Arg) c.4337A>G (p.Lys1446Arg) n.549A>G n.2673A>G n.2208A>G c.314A>G (p.Lys105Arg) n.2058A>G c.4244A>G (p.Lys1415Arg) n.4625A>G | dbSNP |
| 19 | g.11041371A>T | CA404073067 | SMARCA4 | c.4331A>T (p.Lys1444Met) c.4235A>T (p.Lys1412Met) c.4136A>T (p.Lys1379Met) c.402A>T c.362A>T (p.Lys121Met) c.176A>T (p.Lys59Met) n.2476A>T c.2729A>T (p.Lys910Met) c.1692A>T c.4232A>T (p.Lys1411Met) c.2792A>T (p.Lys931Met) c.4145A>T (p.Lys1382Met) c.2520A>T c.4241A>T (p.Lys1414Met) c.2599A>T n.728A>T c.3658A>T c.2872A>T c.2907A>T c.2889A>T c.2723A>T (p.Lys908Met) c.784A>T c.2146A>T (n.2146A>T) c.2578A>T c.2083A>T (n.2083A>T) c.2535A>T n.738A>T c.2489A>T (p.Lys830Met) c.4337A>T (p.Lys1446Met) n.549A>T n.2673A>T n.2208A>T c.314A>T (p.Lys105Met) n.2058A>T c.4244A>T (p.Lys1415Met) n.4625A>T | dbSNP |
| 19 | g.11041372G>A | CA9204679 | SMARCA4 | c.4332G>A (p.Lys1444=) c.4236G>A (p.Lys1412=) c.4137G>A (p.Lys1379=) c.403G>A c.363G>A (p.Lys121=) c.177G>A (p.Lys59=) n.2477G>A c.2730G>A (p.Lys910=) c.1693G>A c.4233G>A (p.Lys1411=) c.2793G>A (p.Lys931=) c.4146G>A (p.Lys1382=) c.2521G>A c.4242G>A (p.Lys1414=) c.2600G>A n.729G>A c.3659G>A c.2873G>A c.2908G>A c.2890G>A c.2724G>A (p.Lys908=) c.785G>A c.2147G>A (n.2147G>A) c.2579G>A c.2084G>A (n.2084G>A) c.2536G>A n.739G>A c.2490G>A (p.Lys830=) c.4338G>A (p.Lys1446=) n.550G>A n.2674G>A n.2209G>A c.315G>A (p.Lys105=) n.2059G>A c.4245G>A (p.Lys1415=) n.4626G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11041372G>C | CA404073075 | SMARCA4 | c.4332G>C (p.Lys1444Asn) c.4236G>C (p.Lys1412Asn) c.4137G>C (p.Lys1379Asn) c.403G>C c.363G>C (p.Lys121Asn) c.177G>C (p.Lys59Asn) n.2477G>C c.2730G>C (p.Lys910Asn) c.1693G>C c.4233G>C (p.Lys1411Asn) c.2793G>C (p.Lys931Asn) c.4146G>C (p.Lys1382Asn) c.2521G>C c.4242G>C (p.Lys1414Asn) c.2600G>C n.729G>C c.3659G>C c.2873G>C c.2908G>C c.2890G>C c.2724G>C (p.Lys908Asn) c.785G>C c.2147G>C (n.2147G>C) c.2579G>C c.2084G>C (n.2084G>C) c.2536G>C n.739G>C c.2490G>C (p.Lys830Asn) c.4338G>C (p.Lys1446Asn) n.550G>C n.2674G>C n.2209G>C c.315G>C (p.Lys105Asn) n.2059G>C c.4245G>C (p.Lys1415Asn) n.4626G>C | dbSNP |
| 19 | g.11041372G= | CA2322734784 | SMARCA4 | c.4332G= (p.Lys1444=) c.4236G= (p.Lys1412=) c.4137G= (p.Lys1379=) c.403G= c.363G= (p.Lys121=) c.177G= (p.Lys59=) n.2477G= c.2730G= (p.Lys910=) c.1693G= c.4233G= (p.Lys1411=) c.2793G= (p.Lys931=) c.4146G= (p.Lys1382=) c.2521G= c.4242G= (p.Lys1414=) c.2600G= n.729G= c.3659G= c.2873G= c.2908G= c.2890G= c.2724G= (p.Lys908=) c.785G= c.2147G= (n.2147G=) c.2579G= c.2084G= (n.2084G=) c.2536G= n.739G= c.2490G= (p.Lys830=) c.4338G= (p.Lys1446=) n.550G= n.2674G= n.2209G= c.315G= (p.Lys105=) n.2059G= c.4245G= (p.Lys1415=) n.4626G= | |
| 19 | g.11041372G>T | CA404073078 | SMARCA4 | c.4332G>T (p.Lys1444Asn) c.4236G>T (p.Lys1412Asn) c.4137G>T (p.Lys1379Asn) c.403G>T c.363G>T (p.Lys121Asn) c.177G>T (p.Lys59Asn) n.2477G>T c.2730G>T (p.Lys910Asn) c.1693G>T c.4233G>T (p.Lys1411Asn) c.2793G>T (p.Lys931Asn) c.4146G>T (p.Lys1382Asn) c.2521G>T c.4242G>T (p.Lys1414Asn) c.2600G>T n.729G>T c.3659G>T c.2873G>T c.2908G>T c.2890G>T c.2724G>T (p.Lys908Asn) c.785G>T c.2147G>T (n.2147G>T) c.2579G>T c.2084G>T (n.2084G>T) c.2536G>T n.739G>T c.2490G>T (p.Lys830Asn) c.4338G>T (p.Lys1446Asn) n.550G>T n.2674G>T n.2209G>T c.315G>T (p.Lys105Asn) n.2059G>T c.4245G>T (p.Lys1415Asn) n.4626G>T | |
| 19 | g.11041373C>A | CA404073083 | SMARCA4 | c.4333C>A (p.Arg1445Ser) c.4237C>A (p.Arg1413Ser) c.4138C>A (p.Arg1380Ser) c.404C>A c.364C>A (p.Arg122Ser) c.178C>A (p.Arg60Ser) n.2478C>A c.2731C>A (p.Arg911Ser) c.1694C>A c.4234C>A (p.Arg1412Ser) c.2794C>A (p.Arg932Ser) c.4147C>A (p.Arg1383Ser) c.2522C>A c.4243C>A (p.Arg1415Ser) c.2601C>A n.730C>A c.3660C>A c.2874C>A c.2909C>A c.2891C>A c.2725C>A (p.Arg909Ser) c.786C>A c.2148C>A (n.2148C>A) c.2580C>A c.2085C>A (n.2085C>A) c.2537C>A n.740C>A c.2491C>A (p.Arg831Ser) c.4339C>A (p.Arg1447Ser) n.551C>A n.2675C>A n.2210C>A c.316C>A (p.Arg106Ser) n.2060C>A c.4246C>A (p.Arg1416Ser) n.4627C>A | dbSNP |
| 19 | g.11041373C= | CA2322734787 | SMARCA4 | c.4333C= (p.Arg1445=) c.4237C= (p.Arg1413=) c.4138C= (p.Arg1380=) c.404C= c.364C= (p.Arg122=) c.178C= (p.Arg60=) n.2478C= c.2731C= (p.Arg911=) c.1694C= c.4234C= (p.Arg1412=) c.2794C= (p.Arg932=) c.4147C= (p.Arg1383=) c.2522C= c.4243C= (p.Arg1415=) c.2601C= n.730C= c.3660C= c.2874C= c.2909C= c.2891C= c.2725C= (p.Arg909=) c.786C= c.2148C= (n.2148C=) c.2580C= c.2085C= (n.2085C=) c.2537C= n.740C= c.2491C= (p.Arg831=) c.4339C= (p.Arg1447=) n.551C= n.2675C= n.2210C= c.316C= (p.Arg106=) n.2060C= c.4246C= (p.Arg1416=) n.4627C= | |
| 19 | g.11041373C>G | CA404073085 | SMARCA4 | c.4333C>G (p.Arg1445Gly) c.4237C>G (p.Arg1413Gly) c.4138C>G (p.Arg1380Gly) c.404C>G c.364C>G (p.Arg122Gly) c.178C>G (p.Arg60Gly) n.2478C>G c.2731C>G (p.Arg911Gly) c.1694C>G c.4234C>G (p.Arg1412Gly) c.2794C>G (p.Arg932Gly) c.4147C>G (p.Arg1383Gly) c.2522C>G c.4243C>G (p.Arg1415Gly) c.2601C>G n.730C>G c.3660C>G c.2874C>G c.2909C>G c.2891C>G c.2725C>G (p.Arg909Gly) c.786C>G c.2148C>G (n.2148C>G) c.2580C>G c.2085C>G (n.2085C>G) c.2537C>G n.740C>G c.2491C>G (p.Arg831Gly) c.4339C>G (p.Arg1447Gly) n.551C>G n.2675C>G n.2210C>G c.316C>G (p.Arg106Gly) n.2060C>G c.4246C>G (p.Arg1416Gly) n.4627C>G | ClinVar dbSNP gnomAD v4 |
| 19 | g.11041373C>T | CA9204680 | SMARCA4 | c.4333C>T (p.Arg1445Cys) c.4237C>T (p.Arg1413Cys) c.4138C>T (p.Arg1380Cys) c.404C>T c.364C>T (p.Arg122Cys) c.178C>T (p.Arg60Cys) n.2478C>T c.2731C>T (p.Arg911Cys) c.1694C>T c.4234C>T (p.Arg1412Cys) c.2794C>T (p.Arg932Cys) c.4147C>T (p.Arg1383Cys) c.2522C>T c.4243C>T (p.Arg1415Cys) c.2601C>T n.730C>T c.3660C>T c.2874C>T c.2909C>T c.2891C>T c.2725C>T (p.Arg909Cys) c.786C>T c.2148C>T (n.2148C>T) c.2580C>T c.2085C>T (n.2085C>T) c.2537C>T n.740C>T c.2491C>T (p.Arg831Cys) c.4339C>T (p.Arg1447Cys) n.551C>T n.2675C>T n.2210C>T c.316C>T (p.Arg106Cys) n.2060C>T c.4246C>T (p.Arg1416Cys) n.4627C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11041374G>A | CA404073092 | SMARCA4 | c.4334G>A (p.Arg1445His) c.4238G>A (p.Arg1413His) c.4139G>A (p.Arg1380His) c.405G>A c.365G>A (p.Arg122His) c.179G>A (p.Arg60His) n.2479G>A c.2732G>A (p.Arg911His) c.1695G>A c.4235G>A (p.Arg1412His) c.2795G>A (p.Arg932His) c.4148G>A (p.Arg1383His) c.2523G>A c.4244G>A (p.Arg1415His) c.2602G>A n.731G>A c.3661G>A c.2875G>A c.2910G>A c.2892G>A c.2726G>A (p.Arg909His) c.787G>A c.2149G>A (n.2149G>A) c.2581G>A c.2086G>A (n.2086G>A) c.2538G>A n.741G>A c.2492G>A (p.Arg831His) c.4340G>A (p.Arg1447His) n.552G>A n.2676G>A n.2211G>A c.317G>A (p.Arg106His) n.2061G>A c.4247G>A (p.Arg1416His) n.4628G>A | ClinVar dbSNP gnomAD v4 |
| 19 | g.11041374G>C | CA404073095 | SMARCA4 | c.4334G>C (p.Arg1445Pro) c.4238G>C (p.Arg1413Pro) c.4139G>C (p.Arg1380Pro) c.405G>C c.365G>C (p.Arg122Pro) c.179G>C (p.Arg60Pro) n.2479G>C c.2732G>C (p.Arg911Pro) c.1695G>C c.4235G>C (p.Arg1412Pro) c.2795G>C (p.Arg932Pro) c.4148G>C (p.Arg1383Pro) c.2523G>C c.4244G>C (p.Arg1415Pro) c.2602G>C n.731G>C c.3661G>C c.2875G>C c.2910G>C c.2892G>C c.2726G>C (p.Arg909Pro) c.787G>C c.2149G>C (n.2149G>C) c.2581G>C c.2086G>C (n.2086G>C) c.2538G>C n.741G>C c.2492G>C (p.Arg831Pro) c.4340G>C (p.Arg1447Pro) n.552G>C n.2676G>C n.2211G>C c.317G>C (p.Arg106Pro) n.2061G>C c.4247G>C (p.Arg1416Pro) n.4628G>C | ClinVar dbSNP |
| 19 | g.11041374G= | CA2322734789 | SMARCA4 | c.4334G= (p.Arg1445=) c.4238G= (p.Arg1413=) c.4139G= (p.Arg1380=) c.405G= c.365G= (p.Arg122=) c.179G= (p.Arg60=) n.2479G= c.2732G= (p.Arg911=) c.1695G= c.4235G= (p.Arg1412=) c.2795G= (p.Arg932=) c.4148G= (p.Arg1383=) c.2523G= c.4244G= (p.Arg1415=) c.2602G= n.731G= c.3661G= c.2875G= c.2910G= c.2892G= c.2726G= (p.Arg909=) c.787G= c.2149G= (n.2149G=) c.2581G= c.2086G= (n.2086G=) c.2538G= n.741G= c.2492G= (p.Arg831=) c.4340G= (p.Arg1447=) n.552G= n.2676G= n.2211G= c.317G= (p.Arg106=) n.2061G= c.4247G= (p.Arg1416=) n.4628G= | |
| 19 | g.11041374G>T | CA404073102 | SMARCA4 | c.4334G>T (p.Arg1445Leu) c.4238G>T (p.Arg1413Leu) c.4139G>T (p.Arg1380Leu) c.405G>T c.365G>T (p.Arg122Leu) c.179G>T (p.Arg60Leu) n.2479G>T c.2732G>T (p.Arg911Leu) c.1695G>T c.4235G>T (p.Arg1412Leu) c.2795G>T (p.Arg932Leu) c.4148G>T (p.Arg1383Leu) c.2523G>T c.4244G>T (p.Arg1415Leu) c.2602G>T n.731G>T c.3661G>T c.2875G>T c.2910G>T c.2892G>T c.2726G>T (p.Arg909Leu) c.787G>T c.2149G>T (n.2149G>T) c.2581G>T c.2086G>T (n.2086G>T) c.2538G>T n.741G>T c.2492G>T (p.Arg831Leu) c.4340G>T (p.Arg1447Leu) n.552G>T n.2676G>T n.2211G>T c.317G>T (p.Arg106Leu) n.2061G>T c.4247G>T (p.Arg1416Leu) n.4628G>T | |
| 19 | g.11041375C>A | CA505743819 | SMARCA4 | c.4335C>A (p.Arg1445=) c.4239C>A (p.Arg1413=) c.4140C>A (p.Arg1380=) c.406C>A c.366C>A (p.Arg122=) c.180C>A (p.Arg60=) n.2480C>A c.2733C>A (p.Arg911=) c.1696C>A c.4236C>A (p.Arg1412=) c.2796C>A (p.Arg932=) c.4149C>A (p.Arg1383=) c.2524C>A c.4245C>A (p.Arg1415=) c.2603C>A n.732C>A c.3662C>A c.2876C>A c.2911C>A c.2893C>A c.2727C>A (p.Arg909=) c.788C>A c.2150C>A (n.2150C>A) c.2582C>A c.2087C>A (n.2087C>A) c.2539C>A n.742C>A c.2493C>A (p.Arg831=) c.4341C>A (p.Arg1447=) n.553C>A n.2677C>A n.2212C>A c.318C>A (p.Arg106=) n.2062C>A c.4248C>A (p.Arg1416=) n.4629C>A | dbSNP |
| 19 | g.11041375C= | CA2322734794 | SMARCA4 | c.4335C= (p.Arg1445=) c.4239C= (p.Arg1413=) c.4140C= (p.Arg1380=) c.406C= c.366C= (p.Arg122=) c.180C= (p.Arg60=) n.2480C= c.2733C= (p.Arg911=) c.1696C= c.4236C= (p.Arg1412=) c.2796C= (p.Arg932=) c.4149C= (p.Arg1383=) c.2524C= c.4245C= (p.Arg1415=) c.2603C= n.732C= c.3662C= c.2876C= c.2911C= c.2893C= c.2727C= (p.Arg909=) c.788C= c.2150C= (n.2150C=) c.2582C= c.2087C= (n.2087C=) c.2539C= n.742C= c.2493C= (p.Arg831=) c.4341C= (p.Arg1447=) n.553C= n.2677C= n.2212C= c.318C= (p.Arg106=) n.2062C= c.4248C= (p.Arg1416=) n.4629C= | |
| 19 | g.11041375C>G | CA505743821 | SMARCA4 | c.4335C>G (p.Arg1445=) c.4239C>G (p.Arg1413=) c.4140C>G (p.Arg1380=) c.406C>G c.366C>G (p.Arg122=) c.180C>G (p.Arg60=) n.2480C>G c.2733C>G (p.Arg911=) c.1696C>G c.4236C>G (p.Arg1412=) c.2796C>G (p.Arg932=) c.4149C>G (p.Arg1383=) c.2524C>G c.4245C>G (p.Arg1415=) c.2603C>G n.732C>G c.3662C>G c.2876C>G c.2911C>G c.2893C>G c.2727C>G (p.Arg909=) c.788C>G c.2150C>G (n.2150C>G) c.2582C>G c.2087C>G (n.2087C>G) c.2539C>G n.742C>G c.2493C>G (p.Arg831=) c.4341C>G (p.Arg1447=) n.553C>G n.2677C>G n.2212C>G c.318C>G (p.Arg106=) n.2062C>G c.4248C>G (p.Arg1416=) n.4629C>G | ClinVar dbSNP |
| 19 | g.11041375C>T | CA505743820 | SMARCA4 | c.4335C>T (p.Arg1445=) c.4239C>T (p.Arg1413=) c.4140C>T (p.Arg1380=) c.406C>T c.366C>T (p.Arg122=) c.180C>T (p.Arg60=) n.2480C>T c.2733C>T (p.Arg911=) c.1696C>T c.4236C>T (p.Arg1412=) c.2796C>T (p.Arg932=) c.4149C>T (p.Arg1383=) c.2524C>T c.4245C>T (p.Arg1415=) c.2603C>T n.732C>T c.3662C>T c.2876C>T c.2911C>T c.2893C>T c.2727C>T (p.Arg909=) c.788C>T c.2150C>T (n.2150C>T) c.2582C>T c.2087C>T (n.2087C>T) c.2539C>T n.742C>T c.2493C>T (p.Arg831=) c.4341C>T (p.Arg1447=) n.553C>T n.2677C>T n.2212C>T c.318C>T (p.Arg106=) n.2062C>T c.4248C>T (p.Arg1416=) n.4629C>T | ClinVar dbSNP |
| 19 | g.11041376A>C | CA404073125 | SMARCA4 | c.4336A>C (p.Lys1446Gln) c.4240A>C (p.Lys1414Gln) c.4141A>C (p.Lys1381Gln) c.407A>C c.367A>C (p.Lys123Gln) c.181A>C (p.Lys61Gln) n.2481A>C c.2734A>C (p.Lys912Gln) c.1697A>C c.4237A>C (p.Lys1413Gln) c.2797A>C (p.Lys933Gln) c.4150A>C (p.Lys1384Gln) c.2525A>C c.4246A>C (p.Lys1416Gln) c.2604A>C n.733A>C c.3663A>C c.2877A>C c.2912A>C c.2894A>C c.2728A>C (p.Lys910Gln) c.789A>C c.2151A>C (n.2151A>C) c.2583A>C c.2088A>C (n.2088A>C) c.2540A>C n.743A>C c.2494A>C (p.Lys832Gln) c.4342A>C (p.Lys1448Gln) n.554A>C n.2678A>C n.2213A>C c.319A>C (p.Lys107Gln) n.2063A>C c.4249A>C (p.Lys1417Gln) n.4630A>C | |
| 19 | g.11041376A>G | CA404073129 | SMARCA4 | c.4336A>G (p.Lys1446Glu) c.4240A>G (p.Lys1414Glu) c.4141A>G (p.Lys1381Glu) c.407A>G c.367A>G (p.Lys123Glu) c.181A>G (p.Lys61Glu) n.2481A>G c.2734A>G (p.Lys912Glu) c.1697A>G c.4237A>G (p.Lys1413Glu) c.2797A>G (p.Lys933Glu) c.4150A>G (p.Lys1384Glu) c.2525A>G c.4246A>G (p.Lys1416Glu) c.2604A>G n.733A>G c.3663A>G c.2877A>G c.2912A>G c.2894A>G c.2728A>G (p.Lys910Glu) c.789A>G c.2151A>G (n.2151A>G) c.2583A>G c.2088A>G (n.2088A>G) c.2540A>G n.743A>G c.2494A>G (p.Lys832Glu) c.4342A>G (p.Lys1448Glu) n.554A>G n.2678A>G n.2213A>G c.319A>G (p.Lys107Glu) n.2063A>G c.4249A>G (p.Lys1417Glu) n.4630A>G | dbSNP |
| 19 | g.11041376A>T | CA404073107 | SMARCA4 | c.4336A>T (p.Lys1446Ter) c.4240A>T (p.Lys1414Ter) c.4141A>T (p.Lys1381Ter) c.407A>T c.367A>T (p.Lys123Ter) c.181A>T (p.Lys61Ter) n.2481A>T c.2734A>T (p.Lys912Ter) c.1697A>T c.4237A>T (p.Lys1413Ter) c.2797A>T (p.Lys933Ter) c.4150A>T (p.Lys1384Ter) c.2525A>T c.4246A>T (p.Lys1416Ter) c.2604A>T n.733A>T c.3663A>T c.2877A>T c.2912A>T c.2894A>T c.2728A>T (p.Lys910Ter) c.789A>T c.2151A>T (n.2151A>T) c.2583A>T c.2088A>T (n.2088A>T) c.2540A>T n.743A>T c.2494A>T (p.Lys832Ter) c.4342A>T (p.Lys1448Ter) n.554A>T n.2678A>T n.2213A>T c.319A>T (p.Lys107Ter) n.2063A>T c.4249A>T (p.Lys1417Ter) n.4630A>T | |
| 19 | g.11041377A>C | CA404073135 | SMARCA4 | c.4337A>C (p.Lys1446Thr) c.4241A>C (p.Lys1414Thr) c.4142A>C (p.Lys1381Thr) c.408A>C c.368A>C (p.Lys123Thr) c.182A>C (p.Lys61Thr) n.2482A>C c.2735A>C (p.Lys912Thr) c.1698A>C c.4238A>C (p.Lys1413Thr) c.2798A>C (p.Lys933Thr) c.4151A>C (p.Lys1384Thr) c.2526A>C c.4247A>C (p.Lys1416Thr) c.2605A>C n.734A>C c.3664A>C c.2878A>C c.2913A>C c.2895A>C c.2729A>C (p.Lys910Thr) c.790A>C c.2152A>C (n.2152A>C) c.2584A>C c.2089A>C (n.2089A>C) c.2541A>C n.744A>C c.2495A>C (p.Lys832Thr) c.4343A>C (p.Lys1448Thr) n.555A>C n.2679A>C n.2214A>C c.320A>C (p.Lys107Thr) n.2064A>C c.4250A>C (p.Lys1417Thr) n.4631A>C | |
| 19 | g.11041377A>G | CA404073139 | SMARCA4 | c.4337A>G (p.Lys1446Arg) c.4241A>G (p.Lys1414Arg) c.4142A>G (p.Lys1381Arg) c.408A>G c.368A>G (p.Lys123Arg) c.182A>G (p.Lys61Arg) n.2482A>G c.2735A>G (p.Lys912Arg) c.1698A>G c.4238A>G (p.Lys1413Arg) c.2798A>G (p.Lys933Arg) c.4151A>G (p.Lys1384Arg) c.2526A>G c.4247A>G (p.Lys1416Arg) c.2605A>G n.734A>G c.3664A>G c.2878A>G c.2913A>G c.2895A>G c.2729A>G (p.Lys910Arg) c.790A>G c.2152A>G (n.2152A>G) c.2584A>G c.2089A>G (n.2089A>G) c.2541A>G n.744A>G c.2495A>G (p.Lys832Arg) c.4343A>G (p.Lys1448Arg) n.555A>G n.2679A>G n.2214A>G c.320A>G (p.Lys107Arg) n.2064A>G c.4250A>G (p.Lys1417Arg) n.4631A>G | dbSNP |
| 19 | g.11041377A>T | CA404073142 | SMARCA4 | c.4337A>T (p.Lys1446Met) c.4241A>T (p.Lys1414Met) c.4142A>T (p.Lys1381Met) c.408A>T c.368A>T (p.Lys123Met) c.182A>T (p.Lys61Met) n.2482A>T c.2735A>T (p.Lys912Met) c.1698A>T c.4238A>T (p.Lys1413Met) c.2798A>T (p.Lys933Met) c.4151A>T (p.Lys1384Met) c.2526A>T c.4247A>T (p.Lys1416Met) c.2605A>T n.734A>T c.3664A>T c.2878A>T c.2913A>T c.2895A>T c.2729A>T (p.Lys910Met) c.790A>T c.2152A>T (n.2152A>T) c.2584A>T c.2089A>T (n.2089A>T) c.2541A>T n.744A>T c.2495A>T (p.Lys832Met) c.4343A>T (p.Lys1448Met) n.555A>T n.2679A>T n.2214A>T c.320A>T (p.Lys107Met) n.2064A>T c.4250A>T (p.Lys1417Met) n.4631A>T | dbSNP |
| 19 | g.11041378G>A | CA505743822 | SMARCA4 | c.4338G>A (p.Lys1446=) c.4242G>A (p.Lys1414=) c.4143G>A (p.Lys1381=) c.409G>A c.369G>A (p.Lys123=) c.183G>A (p.Lys61=) n.2483G>A c.2736G>A (p.Lys912=) c.1699G>A c.4239G>A (p.Lys1413=) c.2799G>A (p.Lys933=) c.4152G>A (p.Lys1384=) c.2527G>A c.4248G>A (p.Lys1416=) c.2606G>A n.735G>A c.3665G>A c.2879G>A c.2914G>A c.2896G>A c.2730G>A (p.Lys910=) c.791G>A c.2153G>A (n.2153G>A) c.2585G>A c.2090G>A (n.2090G>A) c.2542G>A n.745G>A c.2496G>A (p.Lys832=) c.4344G>A (p.Lys1448=) n.556G>A n.2680G>A n.2215G>A c.321G>A (p.Lys107=) n.2065G>A c.4251G>A (p.Lys1417=) n.4632G>A | dbSNP |
| 19 | g.11041378G>C | CA404073146 | SMARCA4 | c.4338G>C (p.Lys1446Asn) c.4242G>C (p.Lys1414Asn) c.4143G>C (p.Lys1381Asn) c.409G>C c.369G>C (p.Lys123Asn) c.183G>C (p.Lys61Asn) n.2483G>C c.2736G>C (p.Lys912Asn) c.1699G>C c.4239G>C (p.Lys1413Asn) c.2799G>C (p.Lys933Asn) c.4152G>C (p.Lys1384Asn) c.2527G>C c.4248G>C (p.Lys1416Asn) c.2606G>C n.735G>C c.3665G>C c.2879G>C c.2914G>C c.2896G>C c.2730G>C (p.Lys910Asn) c.791G>C c.2153G>C (n.2153G>C) c.2585G>C c.2090G>C (n.2090G>C) c.2542G>C n.745G>C c.2496G>C (p.Lys832Asn) c.4344G>C (p.Lys1448Asn) n.556G>C n.2680G>C n.2215G>C c.321G>C (p.Lys107Asn) n.2065G>C c.4251G>C (p.Lys1417Asn) n.4632G>C | dbSNP |
| 19 | g.11041378G>T | CA404073150 | SMARCA4 | c.4338G>T (p.Lys1446Asn) c.4242G>T (p.Lys1414Asn) c.4143G>T (p.Lys1381Asn) c.409G>T c.369G>T (p.Lys123Asn) c.183G>T (p.Lys61Asn) n.2483G>T c.2736G>T (p.Lys912Asn) c.1699G>T c.4239G>T (p.Lys1413Asn) c.2799G>T (p.Lys933Asn) c.4152G>T (p.Lys1384Asn) c.2527G>T c.4248G>T (p.Lys1416Asn) c.2606G>T n.735G>T c.3665G>T c.2879G>T c.2914G>T c.2896G>T c.2730G>T (p.Lys910Asn) c.791G>T c.2153G>T (n.2153G>T) c.2585G>T c.2090G>T (n.2090G>T) c.2542G>T n.745G>T c.2496G>T (p.Lys832Asn) c.4344G>T (p.Lys1448Asn) n.556G>T n.2680G>T n.2215G>T c.321G>T (p.Lys107Asn) n.2065G>T c.4251G>T (p.Lys1417Asn) n.4632G>T | dbSNP |
| 19 | g.11041379C>A | CA505743823 | SMARCA4 | c.4339C>A (p.Arg1447=) c.4243C>A (p.Arg1415=) c.4144C>A (p.Arg1382=) c.410C>A c.370C>A (p.Arg124=) c.184C>A (p.Arg62=) n.2484C>A c.2737C>A (p.Arg913=) c.1700C>A c.4240C>A (p.Arg1414=) c.2800C>A (p.Arg934=) c.4153C>A (p.Arg1385=) c.2528C>A c.4249C>A (p.Arg1417=) c.2607C>A n.736C>A c.3666C>A c.2880C>A c.2915C>A c.2897C>A c.2731C>A (p.Arg911=) c.792C>A c.2154C>A (n.2154C>A) c.2586C>A c.2091C>A (n.2091C>A) c.2543C>A n.746C>A c.2497C>A (p.Arg833=) c.4345C>A (p.Arg1449=) n.557C>A n.2681C>A n.2216C>A c.322C>A (p.Arg108=) n.2066C>A c.4252C>A (p.Arg1418=) n.4633C>A | ClinVar dbSNP gnomAD v4 |
| 19 | g.11041379C= | CA2322734807 | SMARCA4 | c.4339C= (p.Arg1447=) c.4243C= (p.Arg1415=) c.4144C= (p.Arg1382=) c.410C= c.370C= (p.Arg124=) c.184C= (p.Arg62=) n.2484C= c.2737C= (p.Arg913=) c.1700C= c.4240C= (p.Arg1414=) c.2800C= (p.Arg934=) c.4153C= (p.Arg1385=) c.2528C= c.4249C= (p.Arg1417=) c.2607C= n.736C= c.3666C= c.2880C= c.2915C= c.2897C= c.2731C= (p.Arg911=) c.792C= c.2154C= (n.2154C=) c.2586C= c.2091C= (n.2091C=) c.2543C= n.746C= c.2497C= (p.Arg833=) c.4345C= (p.Arg1449=) n.557C= n.2681C= n.2216C= c.322C= (p.Arg108=) n.2066C= c.4252C= (p.Arg1418=) n.4633C= | |
| 19 | g.11041379C>G | CA404073153 | SMARCA4 | c.4339C>G (p.Arg1447Gly) c.4243C>G (p.Arg1415Gly) c.4144C>G (p.Arg1382Gly) c.410C>G c.370C>G (p.Arg124Gly) c.184C>G (p.Arg62Gly) n.2484C>G c.2737C>G (p.Arg913Gly) c.1700C>G c.4240C>G (p.Arg1414Gly) c.2800C>G (p.Arg934Gly) c.4153C>G (p.Arg1385Gly) c.2528C>G c.4249C>G (p.Arg1417Gly) c.2607C>G n.736C>G c.3666C>G c.2880C>G c.2915C>G c.2897C>G c.2731C>G (p.Arg911Gly) c.792C>G c.2154C>G (n.2154C>G) c.2586C>G c.2091C>G (n.2091C>G) c.2543C>G n.746C>G c.2497C>G (p.Arg833Gly) c.4345C>G (p.Arg1449Gly) n.557C>G n.2681C>G n.2216C>G c.322C>G (p.Arg108Gly) n.2066C>G c.4252C>G (p.Arg1418Gly) n.4633C>G | dbSNP |
| 19 | g.11041379C>T | CA10583754 | SMARCA4 | c.4339C>T (p.Arg1447Ter) c.4243C>T (p.Arg1415Ter) c.4144C>T (p.Arg1382Ter) c.410C>T c.370C>T (p.Arg124Ter) c.184C>T (p.Arg62Ter) n.2484C>T c.2737C>T (p.Arg913Ter) c.1700C>T c.4240C>T (p.Arg1414Ter) c.2800C>T (p.Arg934Ter) c.4153C>T (p.Arg1385Ter) c.2528C>T c.4249C>T (p.Arg1417Ter) c.2607C>T n.736C>T c.3666C>T c.2880C>T c.2915C>T c.2897C>T c.2731C>T (p.Arg911Ter) c.792C>T c.2154C>T (n.2154C>T) c.2586C>T c.2091C>T (n.2091C>T) c.2543C>T n.746C>T c.2497C>T (p.Arg833Ter) c.4345C>T (p.Arg1449Ter) n.557C>T n.2681C>T n.2216C>T c.322C>T (p.Arg108Ter) n.2066C>T c.4252C>T (p.Arg1418Ter) n.4633C>T | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 19 | g.11041380G>A | CA10583755 | SMARCA4 | c.4340G>A (p.Arg1447Gln) c.4244G>A (p.Arg1415Gln) c.4145G>A (p.Arg1382Gln) c.411G>A c.371G>A (p.Arg124Gln) c.185G>A (p.Arg62Gln) n.2485G>A c.2738G>A (p.Arg913Gln) c.1701G>A c.4241G>A (p.Arg1414Gln) c.2801G>A (p.Arg934Gln) c.4154G>A (p.Arg1385Gln) c.2529G>A c.4250G>A (p.Arg1417Gln) c.2608G>A n.737G>A c.3667G>A c.2881G>A c.2916G>A c.2898G>A c.2732G>A (p.Arg911Gln) c.793G>A c.2155G>A (n.2155G>A) c.2587G>A c.2092G>A (n.2092G>A) c.2544G>A n.747G>A c.2498G>A (p.Arg833Gln) c.4346G>A (p.Arg1449Gln) n.558G>A n.2682G>A n.2217G>A c.323G>A (p.Arg108Gln) n.2067G>A c.4253G>A (p.Arg1418Gln) n.4634G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11041380G>C | CA404073163 | SMARCA4 | c.4340G>C (p.Arg1447Pro) c.4244G>C (p.Arg1415Pro) c.4145G>C (p.Arg1382Pro) c.411G>C c.371G>C (p.Arg124Pro) c.185G>C (p.Arg62Pro) n.2485G>C c.2738G>C (p.Arg913Pro) c.1701G>C c.4241G>C (p.Arg1414Pro) c.2801G>C (p.Arg934Pro) c.4154G>C (p.Arg1385Pro) c.2529G>C c.4250G>C (p.Arg1417Pro) c.2608G>C n.737G>C c.3667G>C c.2881G>C c.2916G>C c.2898G>C c.2732G>C (p.Arg911Pro) c.793G>C c.2155G>C (n.2155G>C) c.2587G>C c.2092G>C (n.2092G>C) c.2544G>C n.747G>C c.2498G>C (p.Arg833Pro) c.4346G>C (p.Arg1449Pro) n.558G>C n.2682G>C n.2217G>C c.323G>C (p.Arg108Pro) n.2067G>C c.4253G>C (p.Arg1418Pro) n.4634G>C | |
| 19 | g.11041380G= | CA2322734813 | SMARCA4 | c.4340G= (p.Arg1447=) c.4244G= (p.Arg1415=) c.4145G= (p.Arg1382=) c.411G= c.371G= (p.Arg124=) c.185G= (p.Arg62=) n.2485G= c.2738G= (p.Arg913=) c.1701G= c.4241G= (p.Arg1414=) c.2801G= (p.Arg934=) c.4154G= (p.Arg1385=) c.2529G= c.4250G= (p.Arg1417=) c.2608G= n.737G= c.3667G= c.2881G= c.2916G= c.2898G= c.2732G= (p.Arg911=) c.793G= c.2155G= (n.2155G=) c.2587G= c.2092G= (n.2092G=) c.2544G= n.747G= c.2498G= (p.Arg833=) c.4346G= (p.Arg1449=) n.558G= n.2682G= n.2217G= c.323G= (p.Arg108=) n.2067G= c.4253G= (p.Arg1418=) n.4634G= | |
| 19 | g.11041380G>T | CA404073168 | SMARCA4 | c.4340G>T (p.Arg1447Leu) c.4244G>T (p.Arg1415Leu) c.4145G>T (p.Arg1382Leu) c.411G>T c.371G>T (p.Arg124Leu) c.185G>T (p.Arg62Leu) n.2485G>T c.2738G>T (p.Arg913Leu) c.1701G>T c.4241G>T (p.Arg1414Leu) c.2801G>T (p.Arg934Leu) c.4154G>T (p.Arg1385Leu) c.2529G>T c.4250G>T (p.Arg1417Leu) c.2608G>T n.737G>T c.3667G>T c.2881G>T c.2916G>T c.2898G>T c.2732G>T (p.Arg911Leu) c.793G>T c.2155G>T (n.2155G>T) c.2587G>T c.2092G>T (n.2092G>T) c.2544G>T n.747G>T c.2498G>T (p.Arg833Leu) c.4346G>T (p.Arg1449Leu) n.558G>T n.2682G>T n.2217G>T c.323G>T (p.Arg108Leu) n.2067G>T c.4253G>T (p.Arg1418Leu) n.4634G>T | |
| 19 | g.11041381A>C | CA505743824 | SMARCA4 | c.4341A>C (p.Arg1447=) c.4245A>C (p.Arg1415=) c.4146A>C (p.Arg1382=) c.412A>C c.372A>C (p.Arg124=) c.186A>C (p.Arg62=) n.2486A>C c.2739A>C (p.Arg913=) c.1702A>C c.4242A>C (p.Arg1414=) c.2802A>C (p.Arg934=) c.4155A>C (p.Arg1385=) c.2530A>C c.4251A>C (p.Arg1417=) c.2609A>C n.738A>C c.3668A>C c.2882A>C c.2917A>C c.2899A>C c.2733A>C (p.Arg911=) c.794A>C c.2156A>C (n.2156A>C) c.2588A>C c.2093A>C (n.2093A>C) c.2545A>C n.748A>C c.2499A>C (p.Arg833=) c.4347A>C (p.Arg1449=) n.559A>C n.2683A>C n.2218A>C c.324A>C (p.Arg108=) n.2068A>C c.4254A>C (p.Arg1418=) n.4635A>C | ClinVar |
| 19 | g.11041381A>G | CA505743825 | SMARCA4 | c.4341A>G (p.Arg1447=) c.4245A>G (p.Arg1415=) c.4146A>G (p.Arg1382=) c.412A>G c.372A>G (p.Arg124=) c.186A>G (p.Arg62=) n.2486A>G c.2739A>G (p.Arg913=) c.1702A>G c.4242A>G (p.Arg1414=) c.2802A>G (p.Arg934=) c.4155A>G (p.Arg1385=) c.2530A>G c.4251A>G (p.Arg1417=) c.2609A>G n.738A>G c.3668A>G c.2882A>G c.2917A>G c.2899A>G c.2733A>G (p.Arg911=) c.794A>G c.2156A>G (n.2156A>G) c.2588A>G c.2093A>G (n.2093A>G) c.2545A>G n.748A>G c.2499A>G (p.Arg833=) c.4347A>G (p.Arg1449=) n.559A>G n.2683A>G n.2218A>G c.324A>G (p.Arg108=) n.2068A>G c.4254A>G (p.Arg1418=) n.4635A>G | |
| 19 | g.11041381A>T | CA505743826 | SMARCA4 | c.4341A>T (p.Arg1447=) c.4245A>T (p.Arg1415=) c.4146A>T (p.Arg1382=) c.412A>T c.372A>T (p.Arg124=) c.186A>T (p.Arg62=) n.2486A>T c.2739A>T (p.Arg913=) c.1702A>T c.4242A>T (p.Arg1414=) c.2802A>T (p.Arg934=) c.4155A>T (p.Arg1385=) c.2530A>T c.4251A>T (p.Arg1417=) c.2609A>T n.738A>T c.3668A>T c.2882A>T c.2917A>T c.2899A>T c.2733A>T (p.Arg911=) c.794A>T c.2156A>T (n.2156A>T) c.2588A>T c.2093A>T (n.2093A>T) c.2545A>T n.748A>T c.2499A>T (p.Arg833=) c.4347A>T (p.Arg1449=) n.559A>T n.2683A>T n.2218A>T c.324A>T (p.Arg108=) n.2068A>T c.4254A>T (p.Arg1418=) n.4635A>T | ClinVar dbSNP |
| 19 | g.11041382G>A | CA404073173 | SMARCA4 | c.4342G>A (p.Asp1448Asn) c.4246G>A (p.Asp1416Asn) c.4147G>A (p.Asp1383Asn) c.413G>A c.373G>A (p.Asp125Asn) c.187G>A (p.Asp63Asn) n.2487G>A c.2740G>A (p.Asp914Asn) c.1703G>A c.4243G>A (p.Asp1415Asn) c.2803G>A (p.Asp935Asn) c.4156G>A (p.Asp1386Asn) c.2531G>A c.4252G>A (p.Asp1418Asn) c.2610G>A n.739G>A c.3669G>A c.2883G>A c.2918G>A c.2900G>A c.2734G>A (p.Asp912Asn) c.795G>A c.2157G>A (n.2157G>A) c.2589G>A c.2094G>A (n.2094G>A) c.2546G>A n.749G>A c.2500G>A (p.Asp834Asn) c.4348G>A (p.Asp1450Asn) n.560G>A n.2684G>A n.2219G>A c.325G>A (p.Asp109Asn) n.2069G>A c.4255G>A (p.Asp1419Asn) n.4636G>A | ClinVar dbSNP gnomAD v4 |
| 19 | g.11041382G>C | CA404073184 | SMARCA4 | c.4342G>C (p.Asp1448His) c.4246G>C (p.Asp1416His) c.4147G>C (p.Asp1383His) c.413G>C c.373G>C (p.Asp125His) c.187G>C (p.Asp63His) n.2487G>C c.2740G>C (p.Asp914His) c.1703G>C c.4243G>C (p.Asp1415His) c.2803G>C (p.Asp935His) c.4156G>C (p.Asp1386His) c.2531G>C c.4252G>C (p.Asp1418His) c.2610G>C n.739G>C c.3669G>C c.2883G>C c.2918G>C c.2900G>C c.2734G>C (p.Asp912His) c.795G>C c.2157G>C (n.2157G>C) c.2589G>C c.2094G>C (n.2094G>C) c.2546G>C n.749G>C c.2500G>C (p.Asp834His) c.4348G>C (p.Asp1450His) n.560G>C n.2684G>C n.2219G>C c.325G>C (p.Asp109His) n.2069G>C c.4255G>C (p.Asp1419His) n.4636G>C | ClinVar dbSNP |
| 19 | g.11041382G= | CA2322734819 | SMARCA4 | c.4342G= (p.Asp1448=) c.4246G= (p.Asp1416=) c.4147G= (p.Asp1383=) c.413G= c.373G= (p.Asp125=) c.187G= (p.Asp63=) n.2487G= c.2740G= (p.Asp914=) c.1703G= c.4243G= (p.Asp1415=) c.2803G= (p.Asp935=) c.4156G= (p.Asp1386=) c.2531G= c.4252G= (p.Asp1418=) c.2610G= n.739G= c.3669G= c.2883G= c.2918G= c.2900G= c.2734G= (p.Asp912=) c.795G= c.2157G= (n.2157G=) c.2589G= c.2094G= (n.2094G=) c.2546G= n.749G= c.2500G= (p.Asp834=) c.4348G= (p.Asp1450=) n.560G= n.2684G= n.2219G= c.325G= (p.Asp109=) n.2069G= c.4255G= (p.Asp1419=) n.4636G= | |
| 19 | g.11041382G>T | CA404073186 | SMARCA4 | c.4342G>T (p.Asp1448Tyr) c.4246G>T (p.Asp1416Tyr) c.4147G>T (p.Asp1383Tyr) c.413G>T c.373G>T (p.Asp125Tyr) c.187G>T (p.Asp63Tyr) n.2487G>T c.2740G>T (p.Asp914Tyr) c.1703G>T c.4243G>T (p.Asp1415Tyr) c.2803G>T (p.Asp935Tyr) c.4156G>T (p.Asp1386Tyr) c.2531G>T c.4252G>T (p.Asp1418Tyr) c.2610G>T n.739G>T c.3669G>T c.2883G>T c.2918G>T c.2900G>T c.2734G>T (p.Asp912Tyr) c.795G>T c.2157G>T (n.2157G>T) c.2589G>T c.2094G>T (n.2094G>T) c.2546G>T n.749G>T c.2500G>T (p.Asp834Tyr) c.4348G>T (p.Asp1450Tyr) n.560G>T n.2684G>T n.2219G>T c.325G>T (p.Asp109Tyr) n.2069G>T c.4255G>T (p.Asp1419Tyr) n.4636G>T | |
| 19 | g.11041383A>C | CA404073196 | SMARCA4 | c.4343A>C (p.Asp1448Ala) c.4247A>C (p.Asp1416Ala) c.4148A>C (p.Asp1383Ala) c.414A>C c.374A>C (p.Asp125Ala) c.188A>C (p.Asp63Ala) n.2488A>C c.2741A>C (p.Asp914Ala) c.1704A>C c.4244A>C (p.Asp1415Ala) c.2804A>C (p.Asp935Ala) c.4157A>C (p.Asp1386Ala) c.2532A>C c.4253A>C (p.Asp1418Ala) c.2611A>C n.740A>C c.3670A>C c.2884A>C c.2919A>C c.2901A>C c.2735A>C (p.Asp912Ala) c.796A>C c.2158A>C (n.2158A>C) c.2590A>C c.2095A>C (n.2095A>C) c.2547A>C n.750A>C c.2501A>C (p.Asp834Ala) c.4349A>C (p.Asp1450Ala) n.561A>C n.2685A>C n.2220A>C c.326A>C (p.Asp109Ala) n.2070A>C c.4256A>C (p.Asp1419Ala) n.4637A>C | dbSNP |
| 19 | g.11041383A>G | CA404073192 | SMARCA4 | c.4343A>G (p.Asp1448Gly) c.4247A>G (p.Asp1416Gly) c.4148A>G (p.Asp1383Gly) c.414A>G c.374A>G (p.Asp125Gly) c.188A>G (p.Asp63Gly) n.2488A>G c.2741A>G (p.Asp914Gly) c.1704A>G c.4244A>G (p.Asp1415Gly) c.2804A>G (p.Asp935Gly) c.4157A>G (p.Asp1386Gly) c.2532A>G c.4253A>G (p.Asp1418Gly) c.2611A>G n.740A>G c.3670A>G c.2884A>G c.2919A>G c.2901A>G c.2735A>G (p.Asp912Gly) c.796A>G c.2158A>G (n.2158A>G) c.2590A>G c.2095A>G (n.2095A>G) c.2547A>G n.750A>G c.2501A>G (p.Asp834Gly) c.4349A>G (p.Asp1450Gly) n.561A>G n.2685A>G n.2220A>G c.326A>G (p.Asp109Gly) n.2070A>G c.4256A>G (p.Asp1419Gly) n.4637A>G | dbSNP |
| 19 | g.11041383A>T | CA404073190 | SMARCA4 | c.4343A>T (p.Asp1448Val) c.4247A>T (p.Asp1416Val) c.4148A>T (p.Asp1383Val) c.414A>T c.374A>T (p.Asp125Val) c.188A>T (p.Asp63Val) n.2488A>T c.2741A>T (p.Asp914Val) c.1704A>T c.4244A>T (p.Asp1415Val) c.2804A>T (p.Asp935Val) c.4157A>T (p.Asp1386Val) c.2532A>T c.4253A>T (p.Asp1418Val) c.2611A>T n.740A>T c.3670A>T c.2884A>T c.2919A>T c.2901A>T c.2735A>T (p.Asp912Val) c.796A>T c.2158A>T (n.2158A>T) c.2590A>T c.2095A>T (n.2095A>T) c.2547A>T n.750A>T c.2501A>T (p.Asp834Val) c.4349A>T (p.Asp1450Val) n.561A>T n.2685A>T n.2220A>T c.326A>T (p.Asp109Val) n.2070A>T c.4256A>T (p.Asp1419Val) n.4637A>T | dbSNP |
| 19 | g.11041384C>A | CA404073200 | SMARCA4 | c.4344C>A (p.Asp1448Glu) c.4248C>A (p.Asp1416Glu) c.4149C>A (p.Asp1383Glu) c.415C>A c.375C>A (p.Asp125Glu) c.189C>A (p.Asp63Glu) n.2489C>A c.2742C>A (p.Asp914Glu) c.1705C>A c.4245C>A (p.Asp1415Glu) c.2805C>A (p.Asp935Glu) c.4158C>A (p.Asp1386Glu) c.2533C>A c.4254C>A (p.Asp1418Glu) c.2612C>A n.741C>A c.3671C>A c.2885C>A c.2920C>A c.2902C>A c.2736C>A (p.Asp912Glu) c.797C>A c.2159C>A (n.2159C>A) c.2591C>A c.2096C>A (n.2096C>A) c.2548C>A n.751C>A c.2502C>A (p.Asp834Glu) c.4350C>A (p.Asp1450Glu) n.562C>A n.2686C>A n.2221C>A c.327C>A (p.Asp109Glu) n.2071C>A c.4257C>A (p.Asp1419Glu) n.4638C>A | dbSNP |
| 19 | g.11041384C= | CA2322734826 | SMARCA4 | c.4344C= (p.Asp1448=) c.4248C= (p.Asp1416=) c.4149C= (p.Asp1383=) c.415C= c.375C= (p.Asp125=) c.189C= (p.Asp63=) n.2489C= c.2742C= (p.Asp914=) c.1705C= c.4245C= (p.Asp1415=) c.2805C= (p.Asp935=) c.4158C= (p.Asp1386=) c.2533C= c.4254C= (p.Asp1418=) c.2612C= n.741C= c.3671C= c.2885C= c.2920C= c.2902C= c.2736C= (p.Asp912=) c.797C= c.2159C= (n.2159C=) c.2591C= c.2096C= (n.2096C=) c.2548C= n.751C= c.2502C= (p.Asp834=) c.4350C= (p.Asp1450=) n.562C= n.2686C= n.2221C= c.327C= (p.Asp109=) n.2071C= c.4257C= (p.Asp1419=) n.4638C= | |
| 19 | g.11041384C>G | CA404073204 | SMARCA4 | c.4344C>G (p.Asp1448Glu) c.4248C>G (p.Asp1416Glu) c.4149C>G (p.Asp1383Glu) c.415C>G c.375C>G (p.Asp125Glu) c.189C>G (p.Asp63Glu) n.2489C>G c.2742C>G (p.Asp914Glu) c.1705C>G c.4245C>G (p.Asp1415Glu) c.2805C>G (p.Asp935Glu) c.4158C>G (p.Asp1386Glu) c.2533C>G c.4254C>G (p.Asp1418Glu) c.2612C>G n.741C>G c.3671C>G c.2885C>G c.2920C>G c.2902C>G c.2736C>G (p.Asp912Glu) c.797C>G c.2159C>G (n.2159C>G) c.2591C>G c.2096C>G (n.2096C>G) c.2548C>G n.751C>G c.2502C>G (p.Asp834Glu) c.4350C>G (p.Asp1450Glu) n.562C>G n.2686C>G n.2221C>G c.327C>G (p.Asp109Glu) n.2071C>G c.4257C>G (p.Asp1419Glu) n.4638C>G | dbSNP |
| 19 | g.11041384C>T | CA16616191 | SMARCA4 | c.4344C>T (p.Asp1448=) c.4248C>T (p.Asp1416=) c.4149C>T (p.Asp1383=) c.415C>T c.375C>T (p.Asp125=) c.189C>T (p.Asp63=) n.2489C>T c.2742C>T (p.Asp914=) c.1705C>T c.4245C>T (p.Asp1415=) c.2805C>T (p.Asp935=) c.4158C>T (p.Asp1386=) c.2533C>T c.4254C>T (p.Asp1418=) c.2612C>T n.741C>T c.3671C>T c.2885C>T c.2920C>T c.2902C>T c.2736C>T (p.Asp912=) c.797C>T c.2159C>T (n.2159C>T) c.2591C>T c.2096C>T (n.2096C>T) c.2548C>T n.751C>T c.2502C>T (p.Asp834=) c.4350C>T (p.Asp1450=) n.562C>T n.2686C>T n.2221C>T c.327C>T (p.Asp109=) n.2071C>T c.4257C>T (p.Asp1419=) n.4638C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.11041385A= | CA2322734830 | SMARCA4 | c.4345A= (p.Ser1449=) c.4249A= (p.Ser1417=) c.4150A= (p.Ser1384=) c.416A= c.376A= (p.Ser126=) c.190A= (p.Ser64=) n.2490A= c.2743A= (p.Ser915=) c.1706A= c.4246A= (p.Ser1416=) c.2806A= (p.Ser936=) c.4159A= (p.Ser1387=) c.2534A= c.4255A= (p.Ser1419=) c.2613A= n.742A= c.3672A= c.2886A= c.2921A= c.2903A= c.2737A= (p.Ser913=) c.798A= c.2160A= (n.2160A=) c.2592A= c.2097A= (n.2097A=) c.2549A= n.752A= c.2503A= (p.Ser835=) c.4351A= (p.Ser1451=) n.563A= n.2687A= n.2222A= c.328A= (p.Ser110=) n.2072A= c.4258A= (p.Ser1420=) n.4639A= | |
| 19 | g.11041385A>C | CA404073211 | SMARCA4 | c.4345A>C (p.Ser1449Arg) c.4249A>C (p.Ser1417Arg) c.4150A>C (p.Ser1384Arg) c.416A>C c.376A>C (p.Ser126Arg) c.190A>C (p.Ser64Arg) n.2490A>C c.2743A>C (p.Ser915Arg) c.1706A>C c.4246A>C (p.Ser1416Arg) c.2806A>C (p.Ser936Arg) c.4159A>C (p.Ser1387Arg) c.2534A>C c.4255A>C (p.Ser1419Arg) c.2613A>C n.742A>C c.3672A>C c.2886A>C c.2921A>C c.2903A>C c.2737A>C (p.Ser913Arg) c.798A>C c.2160A>C (n.2160A>C) c.2592A>C c.2097A>C (n.2097A>C) c.2549A>C n.752A>C c.2503A>C (p.Ser835Arg) c.4351A>C (p.Ser1451Arg) n.563A>C n.2687A>C n.2222A>C c.328A>C (p.Ser110Arg) n.2072A>C c.4258A>C (p.Ser1420Arg) n.4639A>C | dbSNP |
| 19 | g.11041385A>G | CA9204681 | SMARCA4 | c.4345A>G (p.Ser1449Gly) c.4249A>G (p.Ser1417Gly) c.4150A>G (p.Ser1384Gly) c.416A>G c.376A>G (p.Ser126Gly) c.190A>G (p.Ser64Gly) n.2490A>G c.2743A>G (p.Ser915Gly) c.1706A>G c.4246A>G (p.Ser1416Gly) c.2806A>G (p.Ser936Gly) c.4159A>G (p.Ser1387Gly) c.2534A>G c.4255A>G (p.Ser1419Gly) c.2613A>G n.742A>G c.3672A>G c.2886A>G c.2921A>G c.2903A>G c.2737A>G (p.Ser913Gly) c.798A>G c.2160A>G (n.2160A>G) c.2592A>G c.2097A>G (n.2097A>G) c.2549A>G n.752A>G c.2503A>G (p.Ser835Gly) c.4351A>G (p.Ser1451Gly) n.563A>G n.2687A>G n.2222A>G c.328A>G (p.Ser110Gly) n.2072A>G c.4258A>G (p.Ser1420Gly) n.4639A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11041385A>T | CA404073217 | SMARCA4 | c.4345A>T (p.Ser1449Cys) c.4249A>T (p.Ser1417Cys) c.4150A>T (p.Ser1384Cys) c.416A>T c.376A>T (p.Ser126Cys) c.190A>T (p.Ser64Cys) n.2490A>T c.2743A>T (p.Ser915Cys) c.1706A>T c.4246A>T (p.Ser1416Cys) c.2806A>T (p.Ser936Cys) c.4159A>T (p.Ser1387Cys) c.2534A>T c.4255A>T (p.Ser1419Cys) c.2613A>T n.742A>T c.3672A>T c.2886A>T c.2921A>T c.2903A>T c.2737A>T (p.Ser913Cys) c.798A>T c.2160A>T (n.2160A>T) c.2592A>T c.2097A>T (n.2097A>T) c.2549A>T n.752A>T c.2503A>T (p.Ser835Cys) c.4351A>T (p.Ser1451Cys) n.563A>T n.2687A>T n.2222A>T c.328A>T (p.Ser110Cys) n.2072A>T c.4258A>T (p.Ser1420Cys) n.4639A>T | dbSNP |
| 19 | g.11041386G>A | CA404073223 | SMARCA4 | c.4346G>A (p.Ser1449Asn) c.4250G>A (p.Ser1417Asn) c.4151G>A (p.Ser1384Asn) c.417G>A c.377G>A (p.Ser126Asn) c.191G>A (p.Ser64Asn) n.2491G>A c.2744G>A (p.Ser915Asn) c.1707G>A c.4247G>A (p.Ser1416Asn) c.2807G>A (p.Ser936Asn) c.4160G>A (p.Ser1387Asn) c.2535G>A c.4256G>A (p.Ser1419Asn) c.2614G>A n.743G>A c.3673G>A c.2887G>A c.2922G>A c.2904G>A c.2738G>A (p.Ser913Asn) c.799G>A c.2161G>A (n.2161G>A) c.2593G>A c.2098G>A (n.2098G>A) c.2550G>A n.753G>A c.2504G>A (p.Ser835Asn) c.4352G>A (p.Ser1451Asn) n.564G>A n.2688G>A n.2223G>A c.329G>A (p.Ser110Asn) n.2073G>A c.4259G>A (p.Ser1420Asn) n.4640G>A | ClinVar dbSNP |
| 19 | g.11041386G>C | CA404073224 | SMARCA4 | c.4346G>C (p.Ser1449Thr) c.4250G>C (p.Ser1417Thr) c.4151G>C (p.Ser1384Thr) c.417G>C c.377G>C (p.Ser126Thr) c.191G>C (p.Ser64Thr) n.2491G>C c.2744G>C (p.Ser915Thr) c.1707G>C c.4247G>C (p.Ser1416Thr) c.2807G>C (p.Ser936Thr) c.4160G>C (p.Ser1387Thr) c.2535G>C c.4256G>C (p.Ser1419Thr) c.2614G>C n.743G>C c.3673G>C c.2887G>C c.2922G>C c.2904G>C c.2738G>C (p.Ser913Thr) c.799G>C c.2161G>C (n.2161G>C) c.2593G>C c.2098G>C (n.2098G>C) c.2550G>C n.753G>C c.2504G>C (p.Ser835Thr) c.4352G>C (p.Ser1451Thr) n.564G>C n.2688G>C n.2223G>C c.329G>C (p.Ser110Thr) n.2073G>C c.4259G>C (p.Ser1420Thr) n.4640G>C | dbSNP |
| 19 | g.11041386G= | CA2322734838 | SMARCA4 | c.4346G= (p.Ser1449=) c.4250G= (p.Ser1417=) c.4151G= (p.Ser1384=) c.417G= c.377G= (p.Ser126=) c.191G= (p.Ser64=) n.2491G= c.2744G= (p.Ser915=) c.1707G= c.4247G= (p.Ser1416=) c.2807G= (p.Ser936=) c.4160G= (p.Ser1387=) c.2535G= c.4256G= (p.Ser1419=) c.2614G= n.743G= c.3673G= c.2887G= c.2922G= c.2904G= c.2738G= (p.Ser913=) c.799G= c.2161G= (n.2161G=) c.2593G= c.2098G= (n.2098G=) c.2550G= n.753G= c.2504G= (p.Ser835=) c.4352G= (p.Ser1451=) n.564G= n.2688G= n.2223G= c.329G= (p.Ser110=) n.2073G= c.4259G= (p.Ser1420=) n.4640G= | |
| 19 | g.11041386G>T | CA404073225 | SMARCA4 | c.4346G>T (p.Ser1449Ile) c.4250G>T (p.Ser1417Ile) c.4151G>T (p.Ser1384Ile) c.417G>T c.377G>T (p.Ser126Ile) c.191G>T (p.Ser64Ile) n.2491G>T c.2744G>T (p.Ser915Ile) c.1707G>T c.4247G>T (p.Ser1416Ile) c.2807G>T (p.Ser936Ile) c.4160G>T (p.Ser1387Ile) c.2535G>T c.4256G>T (p.Ser1419Ile) c.2614G>T n.743G>T c.3673G>T c.2887G>T c.2922G>T c.2904G>T c.2738G>T (p.Ser913Ile) c.799G>T c.2161G>T (n.2161G>T) c.2593G>T c.2098G>T (n.2098G>T) c.2550G>T n.753G>T c.2504G>T (p.Ser835Ile) c.4352G>T (p.Ser1451Ile) n.564G>T n.2688G>T n.2223G>T c.329G>T (p.Ser110Ile) n.2073G>T c.4259G>T (p.Ser1420Ile) n.4640G>T | ClinVar dbSNP |
| 19 | g.11041387C>A | CA404073226 | SMARCA4 | c.4347C>A (p.Ser1449Arg) c.4251C>A (p.Ser1417Arg) c.4152C>A (p.Ser1384Arg) c.418C>A c.378C>A (p.Ser126Arg) c.192C>A (p.Ser64Arg) n.2492C>A c.2745C>A (p.Ser915Arg) c.1708C>A c.4248C>A (p.Ser1416Arg) c.2808C>A (p.Ser936Arg) c.4161C>A (p.Ser1387Arg) c.2536C>A c.4257C>A (p.Ser1419Arg) c.2615C>A n.744C>A c.3674C>A c.2888C>A c.2923C>A c.2905C>A c.2739C>A (p.Ser913Arg) c.800C>A c.2162C>A (n.2162C>A) c.2594C>A c.2099C>A (n.2099C>A) c.2551C>A n.754C>A c.2505C>A (p.Ser835Arg) c.4353C>A (p.Ser1451Arg) n.565C>A n.2689C>A n.2224C>A c.330C>A (p.Ser110Arg) n.2074C>A c.4260C>A (p.Ser1420Arg) n.4641C>A | ClinVar dbSNP |
| 19 | g.11041387C= | CA2322734842 | SMARCA4 | c.4347C= (p.Ser1449=) c.4251C= (p.Ser1417=) c.4152C= (p.Ser1384=) c.418C= c.378C= (p.Ser126=) c.192C= (p.Ser64=) n.2492C= c.2745C= (p.Ser915=) c.1708C= c.4248C= (p.Ser1416=) c.2808C= (p.Ser936=) c.4161C= (p.Ser1387=) c.2536C= c.4257C= (p.Ser1419=) c.2615C= n.744C= c.3674C= c.2888C= c.2923C= c.2905C= c.2739C= (p.Ser913=) c.800C= c.2162C= (n.2162C=) c.2594C= c.2099C= (n.2099C=) c.2551C= n.754C= c.2505C= (p.Ser835=) c.4353C= (p.Ser1451=) n.565C= n.2689C= n.2224C= c.330C= (p.Ser110=) n.2074C= c.4260C= (p.Ser1420=) n.4641C= | |
| 19 | g.11041387C>G | CA404073229 | SMARCA4 | c.4347C>G (p.Ser1449Arg) c.4251C>G (p.Ser1417Arg) c.4152C>G (p.Ser1384Arg) c.418C>G c.378C>G (p.Ser126Arg) c.192C>G (p.Ser64Arg) n.2492C>G c.2745C>G (p.Ser915Arg) c.1708C>G c.4248C>G (p.Ser1416Arg) c.2808C>G (p.Ser936Arg) c.4161C>G (p.Ser1387Arg) c.2536C>G c.4257C>G (p.Ser1419Arg) c.2615C>G n.744C>G c.3674C>G c.2888C>G c.2923C>G c.2905C>G c.2739C>G (p.Ser913Arg) c.800C>G c.2162C>G (n.2162C>G) c.2594C>G c.2099C>G (n.2099C>G) c.2551C>G n.754C>G c.2505C>G (p.Ser835Arg) c.4353C>G (p.Ser1451Arg) n.565C>G n.2689C>G n.2224C>G c.330C>G (p.Ser110Arg) n.2074C>G c.4260C>G (p.Ser1420Arg) n.4641C>G | dbSNP |
| 19 | g.11041387C>T | CA9204682 | SMARCA4 | c.4347C>T (p.Ser1449=) c.4251C>T (p.Ser1417=) c.4152C>T (p.Ser1384=) c.418C>T c.378C>T (p.Ser126=) c.192C>T (p.Ser64=) n.2492C>T c.2745C>T (p.Ser915=) c.1708C>T c.4248C>T (p.Ser1416=) c.2808C>T (p.Ser936=) c.4161C>T (p.Ser1387=) c.2536C>T c.4257C>T (p.Ser1419=) c.2615C>T n.744C>T c.3674C>T c.2888C>T c.2923C>T c.2905C>T c.2739C>T (p.Ser913=) c.800C>T c.2162C>T (n.2162C>T) c.2594C>T c.2099C>T (n.2099C>T) c.2551C>T n.754C>T c.2505C>T (p.Ser835=) c.4353C>T (p.Ser1451=) n.565C>T n.2689C>T n.2224C>T c.330C>T (p.Ser110=) n.2074C>T c.4260C>T (p.Ser1420=) n.4641C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11041388G>A | CA9204683 | SMARCA4 | c.4348G>A (p.Asp1450Asn) c.4252G>A (p.Asp1418Asn) c.4153G>A (p.Asp1385Asn) c.419G>A c.379G>A (p.Asp127Asn) c.193G>A (p.Asp65Asn) n.2493G>A c.2746G>A (p.Asp916Asn) c.1709G>A c.4249G>A (p.Asp1417Asn) c.2809G>A (p.Asp937Asn) c.4162G>A (p.Asp1388Asn) c.2537G>A c.4258G>A (p.Asp1420Asn) c.2616G>A n.745G>A c.3675G>A c.2889G>A c.2924G>A c.2906G>A c.2740G>A (p.Asp914Asn) c.801G>A c.2163G>A (n.2163G>A) c.2595G>A c.2100G>A (n.2100G>A) c.2552G>A n.755G>A c.2506G>A (p.Asp836Asn) c.4354G>A (p.Asp1452Asn) n.566G>A n.2690G>A n.2225G>A c.331G>A (p.Asp111Asn) n.2075G>A c.4261G>A (p.Asp1421Asn) n.4642G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 19 | g.11041388G>C | CA404073237 | SMARCA4 | c.4348G>C (p.Asp1450His) c.4252G>C (p.Asp1418His) c.4153G>C (p.Asp1385His) c.419G>C c.379G>C (p.Asp127His) c.193G>C (p.Asp65His) n.2493G>C c.2746G>C (p.Asp916His) c.1709G>C c.4249G>C (p.Asp1417His) c.2809G>C (p.Asp937His) c.4162G>C (p.Asp1388His) c.2537G>C c.4258G>C (p.Asp1420His) c.2616G>C n.745G>C c.3675G>C c.2889G>C c.2924G>C c.2906G>C c.2740G>C (p.Asp914His) c.801G>C c.2163G>C (n.2163G>C) c.2595G>C c.2100G>C (n.2100G>C) c.2552G>C n.755G>C c.2506G>C (p.Asp836His) c.4354G>C (p.Asp1452His) n.566G>C n.2690G>C n.2225G>C c.331G>C (p.Asp111His) n.2075G>C c.4261G>C (p.Asp1421His) n.4642G>C | dbSNP |
| 19 | g.11041388G= | CA2322734846 | SMARCA4 | c.4348G= (p.Asp1450=) c.4252G= (p.Asp1418=) c.4153G= (p.Asp1385=) c.419G= c.379G= (p.Asp127=) c.193G= (p.Asp65=) n.2493G= c.2746G= (p.Asp916=) c.1709G= c.4249G= (p.Asp1417=) c.2809G= (p.Asp937=) c.4162G= (p.Asp1388=) c.2537G= c.4258G= (p.Asp1420=) c.2616G= n.745G= c.3675G= c.2889G= c.2924G= c.2906G= c.2740G= (p.Asp914=) c.801G= c.2163G= (n.2163G=) c.2595G= c.2100G= (n.2100G=) c.2552G= n.755G= c.2506G= (p.Asp836=) c.4354G= (p.Asp1452=) n.566G= n.2690G= n.2225G= c.331G= (p.Asp111=) n.2075G= c.4261G= (p.Asp1421=) n.4642G= | |
| 19 | g.11041388G>T | CA404073242 | SMARCA4 | c.4348G>T (p.Asp1450Tyr) c.4252G>T (p.Asp1418Tyr) c.4153G>T (p.Asp1385Tyr) c.419G>T c.379G>T (p.Asp127Tyr) c.193G>T (p.Asp65Tyr) n.2493G>T c.2746G>T (p.Asp916Tyr) c.1709G>T c.4249G>T (p.Asp1417Tyr) c.2809G>T (p.Asp937Tyr) c.4162G>T (p.Asp1388Tyr) c.2537G>T c.4258G>T (p.Asp1420Tyr) c.2616G>T n.745G>T c.3675G>T c.2889G>T c.2924G>T c.2906G>T c.2740G>T (p.Asp914Tyr) c.801G>T c.2163G>T (n.2163G>T) c.2595G>T c.2100G>T (n.2100G>T) c.2552G>T n.755G>T c.2506G>T (p.Asp836Tyr) c.4354G>T (p.Asp1452Tyr) n.566G>T n.2690G>T n.2225G>T c.331G>T (p.Asp111Tyr) n.2075G>T c.4261G>T (p.Asp1421Tyr) n.4642G>T | ClinVar dbSNP |
| 19 | g.11041389A= | CA2322734851 | SMARCA4 | c.4349A= (p.Asp1450=) c.4253A= (p.Asp1418=) c.4154A= (p.Asp1385=) c.420A= c.380A= (p.Asp127=) c.194A= (p.Asp65=) n.2494A= c.2747A= (p.Asp916=) c.1710A= c.4250A= (p.Asp1417=) c.2810A= (p.Asp937=) c.4163A= (p.Asp1388=) c.2538A= c.4259A= (p.Asp1420=) c.2617A= n.746A= c.3676A= c.2890A= c.2925A= c.2907A= c.2741A= (p.Asp914=) c.802A= c.2164A= (n.2164A=) c.2596A= c.2101A= (n.2101A=) c.2553A= n.756A= c.2507A= (p.Asp836=) c.4355A= (p.Asp1452=) n.567A= n.2691A= n.2226A= c.332A= (p.Asp111=) n.2076A= c.4262A= (p.Asp1421=) n.4643A= | |
| 19 | g.11041389A>C | CA404073249 | SMARCA4 | c.4349A>C (p.Asp1450Ala) c.4253A>C (p.Asp1418Ala) c.4154A>C (p.Asp1385Ala) c.420A>C c.380A>C (p.Asp127Ala) c.194A>C (p.Asp65Ala) n.2494A>C c.2747A>C (p.Asp916Ala) c.1710A>C c.4250A>C (p.Asp1417Ala) c.2810A>C (p.Asp937Ala) c.4163A>C (p.Asp1388Ala) c.2538A>C c.4259A>C (p.Asp1420Ala) c.2617A>C n.746A>C c.3676A>C c.2890A>C c.2925A>C c.2907A>C c.2741A>C (p.Asp914Ala) c.802A>C c.2164A>C (n.2164A>C) c.2596A>C c.2101A>C (n.2101A>C) c.2553A>C n.756A>C c.2507A>C (p.Asp836Ala) c.4355A>C (p.Asp1452Ala) n.567A>C n.2691A>C n.2226A>C c.332A>C (p.Asp111Ala) n.2076A>C c.4262A>C (p.Asp1421Ala) n.4643A>C | |
| 19 | g.11041389A>G | CA404073250 | SMARCA4 | c.4349A>G (p.Asp1450Gly) c.4253A>G (p.Asp1418Gly) c.4154A>G (p.Asp1385Gly) c.420A>G c.380A>G (p.Asp127Gly) c.194A>G (p.Asp65Gly) n.2494A>G c.2747A>G (p.Asp916Gly) c.1710A>G c.4250A>G (p.Asp1417Gly) c.2810A>G (p.Asp937Gly) c.4163A>G (p.Asp1388Gly) c.2538A>G c.4259A>G (p.Asp1420Gly) c.2617A>G n.746A>G c.3676A>G c.2890A>G c.2925A>G c.2907A>G c.2741A>G (p.Asp914Gly) c.802A>G c.2164A>G (n.2164A>G) c.2596A>G c.2101A>G (n.2101A>G) c.2553A>G n.756A>G c.2507A>G (p.Asp836Gly) c.4355A>G (p.Asp1452Gly) n.567A>G n.2691A>G n.2226A>G c.332A>G (p.Asp111Gly) n.2076A>G c.4262A>G (p.Asp1421Gly) n.4643A>G | ClinVar dbSNP |
| 19 | g.11041389A>T | CA404073248 | SMARCA4 | c.4349A>T (p.Asp1450Val) c.4253A>T (p.Asp1418Val) c.4154A>T (p.Asp1385Val) c.420A>T c.380A>T (p.Asp127Val) c.194A>T (p.Asp65Val) n.2494A>T c.2747A>T (p.Asp916Val) c.1710A>T c.4250A>T (p.Asp1417Val) c.2810A>T (p.Asp937Val) c.4163A>T (p.Asp1388Val) c.2538A>T c.4259A>T (p.Asp1420Val) c.2617A>T n.746A>T c.3676A>T c.2890A>T c.2925A>T c.2907A>T c.2741A>T (p.Asp914Val) c.802A>T c.2164A>T (n.2164A>T) c.2596A>T c.2101A>T (n.2101A>T) c.2553A>T n.756A>T c.2507A>T (p.Asp836Val) c.4355A>T (p.Asp1452Val) n.567A>T n.2691A>T n.2226A>T c.332A>T (p.Asp111Val) n.2076A>T c.4262A>T (p.Asp1421Val) n.4643A>T | dbSNP |
| 19 | g.11041390C>A | CA404073252 | SMARCA4 | c.4350C>A (p.Asp1450Glu) c.4254C>A (p.Asp1418Glu) c.4155C>A (p.Asp1385Glu) c.421C>A c.381C>A (p.Asp127Glu) c.195C>A (p.Asp65Glu) n.2495C>A c.2748C>A (p.Asp916Glu) c.1711C>A c.4251C>A (p.Asp1417Glu) c.2811C>A (p.Asp937Glu) c.4164C>A (p.Asp1388Glu) c.2539C>A c.4260C>A (p.Asp1420Glu) c.2618C>A n.747C>A c.3677C>A c.2891C>A c.2926C>A c.2908C>A c.2742C>A (p.Asp914Glu) c.803C>A c.2165C>A (n.2165C>A) c.2597C>A c.2102C>A (n.2102C>A) c.2554C>A n.757C>A c.2508C>A (p.Asp836Glu) c.4356C>A (p.Asp1452Glu) n.568C>A n.2692C>A n.2227C>A c.333C>A (p.Asp111Glu) n.2077C>A c.4263C>A (p.Asp1421Glu) n.4644C>A | ClinVar dbSNP |
| 19 | g.11041390C= | CA2322734855 | SMARCA4 | c.4350C= (p.Asp1450=) c.4254C= (p.Asp1418=) c.4155C= (p.Asp1385=) c.421C= c.381C= (p.Asp127=) c.195C= (p.Asp65=) n.2495C= c.2748C= (p.Asp916=) c.1711C= c.4251C= (p.Asp1417=) c.2811C= (p.Asp937=) c.4164C= (p.Asp1388=) c.2539C= c.4260C= (p.Asp1420=) c.2618C= n.747C= c.3677C= c.2891C= c.2926C= c.2908C= c.2742C= (p.Asp914=) c.803C= c.2165C= (n.2165C=) c.2597C= c.2102C= (n.2102C=) c.2554C= n.757C= c.2508C= (p.Asp836=) c.4356C= (p.Asp1452=) n.568C= n.2692C= n.2227C= c.333C= (p.Asp111=) n.2077C= c.4263C= (p.Asp1421=) n.4644C= | |
| 19 | g.11041390C>G | CA404073266 | SMARCA4 | c.4350C>G (p.Asp1450Glu) c.4254C>G (p.Asp1418Glu) c.4155C>G (p.Asp1385Glu) c.421C>G c.381C>G (p.Asp127Glu) c.195C>G (p.Asp65Glu) n.2495C>G c.2748C>G (p.Asp916Glu) c.1711C>G c.4251C>G (p.Asp1417Glu) c.2811C>G (p.Asp937Glu) c.4164C>G (p.Asp1388Glu) c.2539C>G c.4260C>G (p.Asp1420Glu) c.2618C>G n.747C>G c.3677C>G c.2891C>G c.2926C>G c.2908C>G c.2742C>G (p.Asp914Glu) c.803C>G c.2165C>G (n.2165C>G) c.2597C>G c.2102C>G (n.2102C>G) c.2554C>G n.757C>G c.2508C>G (p.Asp836Glu) c.4356C>G (p.Asp1452Glu) n.568C>G n.2692C>G n.2227C>G c.333C>G (p.Asp111Glu) n.2077C>G c.4263C>G (p.Asp1421Glu) n.4644C>G | dbSNP |
| 19 | g.11041390C>T | CA9204684 | SMARCA4 | c.4350C>T (p.Asp1450=) c.4254C>T (p.Asp1418=) c.4155C>T (p.Asp1385=) c.421C>T c.381C>T (p.Asp127=) c.195C>T (p.Asp65=) n.2495C>T c.2748C>T (p.Asp916=) c.1711C>T c.4251C>T (p.Asp1417=) c.2811C>T (p.Asp937=) c.4164C>T (p.Asp1388=) c.2539C>T c.4260C>T (p.Asp1420=) c.2618C>T n.747C>T c.3677C>T c.2891C>T c.2926C>T c.2908C>T c.2742C>T (p.Asp914=) c.803C>T c.2165C>T (n.2165C>T) c.2597C>T c.2102C>T (n.2102C>T) c.2554C>T n.757C>T c.2508C>T (p.Asp836=) c.4356C>T (p.Asp1452=) n.568C>T n.2692C>T n.2227C>T c.333C>T (p.Asp111=) n.2077C>T c.4263C>T (p.Asp1421=) n.4644C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11041391G>A | CA9204685 | SMARCA4 | c.4351G>A (p.Ala1451Thr) c.4255G>A (p.Ala1419Thr) c.4156G>A (p.Ala1386Thr) c.422G>A c.382G>A (p.Ala128Thr) c.196G>A (p.Ala66Thr) n.2496G>A c.2749G>A (p.Ala917Thr) c.1712G>A c.4252G>A (p.Ala1418Thr) c.2812G>A (p.Ala938Thr) c.4165G>A (p.Ala1389Thr) c.2540G>A c.4261G>A (p.Ala1421Thr) c.2619G>A n.748G>A c.3678G>A c.2892G>A c.2927G>A c.2909G>A c.2743G>A (p.Ala915Thr) c.804G>A c.2166G>A (n.2166G>A) c.2598G>A c.2103G>A (n.2103G>A) c.2555G>A n.758G>A c.2509G>A (p.Ala837Thr) c.4357G>A (p.Ala1453Thr) n.569G>A n.2693G>A n.2228G>A c.334G>A (p.Ala112Thr) n.2078G>A c.4264G>A (p.Ala1422Thr) n.4645G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11041391G>C | CA404073273 | SMARCA4 | c.4351G>C (p.Ala1451Pro) c.4255G>C (p.Ala1419Pro) c.4156G>C (p.Ala1386Pro) c.422G>C c.382G>C (p.Ala128Pro) c.196G>C (p.Ala66Pro) n.2496G>C c.2749G>C (p.Ala917Pro) c.1712G>C c.4252G>C (p.Ala1418Pro) c.2812G>C (p.Ala938Pro) c.4165G>C (p.Ala1389Pro) c.2540G>C c.4261G>C (p.Ala1421Pro) c.2619G>C n.748G>C c.3678G>C c.2892G>C c.2927G>C c.2909G>C c.2743G>C (p.Ala915Pro) c.804G>C c.2166G>C (n.2166G>C) c.2598G>C c.2103G>C (n.2103G>C) c.2555G>C n.758G>C c.2509G>C (p.Ala837Pro) c.4357G>C (p.Ala1453Pro) n.569G>C n.2693G>C n.2228G>C c.334G>C (p.Ala112Pro) n.2078G>C c.4264G>C (p.Ala1422Pro) n.4645G>C | |
| 19 | g.11041391G= | CA2322734864 | SMARCA4 | c.4351G= (p.Ala1451=) c.4255G= (p.Ala1419=) c.4156G= (p.Ala1386=) c.422G= c.382G= (p.Ala128=) c.196G= (p.Ala66=) n.2496G= c.2749G= (p.Ala917=) c.1712G= c.4252G= (p.Ala1418=) c.2812G= (p.Ala938=) c.4165G= (p.Ala1389=) c.2540G= c.4261G= (p.Ala1421=) c.2619G= n.748G= c.3678G= c.2892G= c.2927G= c.2909G= c.2743G= (p.Ala915=) c.804G= c.2166G= (n.2166G=) c.2598G= c.2103G= (n.2103G=) c.2555G= n.758G= c.2509G= (p.Ala837=) c.4357G= (p.Ala1453=) n.569G= n.2693G= n.2228G= c.334G= (p.Ala112=) n.2078G= c.4264G= (p.Ala1422=) n.4645G= | |
| 19 | g.11041391G>T | CA404073276 | SMARCA4 | c.4351G>T (p.Ala1451Ser) c.4255G>T (p.Ala1419Ser) c.4156G>T (p.Ala1386Ser) c.422G>T c.382G>T (p.Ala128Ser) c.196G>T (p.Ala66Ser) n.2496G>T c.2749G>T (p.Ala917Ser) c.1712G>T c.4252G>T (p.Ala1418Ser) c.2812G>T (p.Ala938Ser) c.4165G>T (p.Ala1389Ser) c.2540G>T c.4261G>T (p.Ala1421Ser) c.2619G>T n.748G>T c.3678G>T c.2892G>T c.2927G>T c.2909G>T c.2743G>T (p.Ala915Ser) c.804G>T c.2166G>T (n.2166G>T) c.2598G>T c.2103G>T (n.2103G>T) c.2555G>T n.758G>T c.2509G>T (p.Ala837Ser) c.4357G>T (p.Ala1453Ser) n.569G>T n.2693G>T n.2228G>T c.334G>T (p.Ala112Ser) n.2078G>T c.4264G>T (p.Ala1422Ser) n.4645G>T | ClinVar |
| 19 | g.11041392C>A | CA404073283 | SMARCA4 | c.4352C>A (p.Ala1451Asp) c.4256C>A (p.Ala1419Asp) c.4157C>A (p.Ala1386Asp) c.423C>A c.383C>A (p.Ala128Asp) c.197C>A (p.Ala66Asp) n.2497C>A c.2750C>A (p.Ala917Asp) c.1713C>A c.4253C>A (p.Ala1418Asp) c.2813C>A (p.Ala938Asp) c.4166C>A (p.Ala1389Asp) c.2541C>A c.4262C>A (p.Ala1421Asp) c.2620C>A n.749C>A c.3679C>A c.2893C>A c.2928C>A c.2910C>A c.2744C>A (p.Ala915Asp) c.805C>A c.2167C>A (n.2167C>A) c.2599C>A c.2104C>A (n.2104C>A) c.2556C>A n.759C>A c.2510C>A (p.Ala837Asp) c.4358C>A (p.Ala1453Asp) n.570C>A n.2694C>A n.2229C>A c.335C>A (p.Ala112Asp) n.2079C>A c.4265C>A (p.Ala1422Asp) n.4646C>A | |
| 19 | g.11041392C= | CA2322734867 | SMARCA4 | c.4352C= (p.Ala1451=) c.4256C= (p.Ala1419=) c.4157C= (p.Ala1386=) c.423C= c.383C= (p.Ala128=) c.197C= (p.Ala66=) n.2497C= c.2750C= (p.Ala917=) c.1713C= c.4253C= (p.Ala1418=) c.2813C= (p.Ala938=) c.4166C= (p.Ala1389=) c.2541C= c.4262C= (p.Ala1421=) c.2620C= n.749C= c.3679C= c.2893C= c.2928C= c.2910C= c.2744C= (p.Ala915=) c.805C= c.2167C= (n.2167C=) c.2599C= c.2104C= (n.2104C=) c.2556C= n.759C= c.2510C= (p.Ala837=) c.4358C= (p.Ala1453=) n.570C= n.2694C= n.2229C= c.335C= (p.Ala112=) n.2079C= c.4265C= (p.Ala1422=) n.4646C= | |
| 19 | g.11041392C>G | CA404073286 | SMARCA4 | c.4352C>G (p.Ala1451Gly) c.4256C>G (p.Ala1419Gly) c.4157C>G (p.Ala1386Gly) c.423C>G c.383C>G (p.Ala128Gly) c.197C>G (p.Ala66Gly) n.2497C>G c.2750C>G (p.Ala917Gly) c.1713C>G c.4253C>G (p.Ala1418Gly) c.2813C>G (p.Ala938Gly) c.4166C>G (p.Ala1389Gly) c.2541C>G c.4262C>G (p.Ala1421Gly) c.2620C>G n.749C>G c.3679C>G c.2893C>G c.2928C>G c.2910C>G c.2744C>G (p.Ala915Gly) c.805C>G c.2167C>G (n.2167C>G) c.2599C>G c.2104C>G (n.2104C>G) c.2556C>G n.759C>G c.2510C>G (p.Ala837Gly) c.4358C>G (p.Ala1453Gly) n.570C>G n.2694C>G n.2229C>G c.335C>G (p.Ala112Gly) n.2079C>G c.4265C>G (p.Ala1422Gly) n.4646C>G | |
| 19 | g.11041392C>T | CA404073291 | SMARCA4 | c.4352C>T (p.Ala1451Val) c.4256C>T (p.Ala1419Val) c.4157C>T (p.Ala1386Val) c.423C>T c.383C>T (p.Ala128Val) c.197C>T (p.Ala66Val) n.2497C>T c.2750C>T (p.Ala917Val) c.1713C>T c.4253C>T (p.Ala1418Val) c.2813C>T (p.Ala938Val) c.4166C>T (p.Ala1389Val) c.2541C>T c.4262C>T (p.Ala1421Val) c.2620C>T n.749C>T c.3679C>T c.2893C>T c.2928C>T c.2910C>T c.2744C>T (p.Ala915Val) c.805C>T c.2167C>T (n.2167C>T) c.2599C>T c.2104C>T (n.2104C>T) c.2556C>T n.759C>T c.2510C>T (p.Ala837Val) c.4358C>T (p.Ala1453Val) n.570C>T n.2694C>T n.2229C>T c.335C>T (p.Ala112Val) n.2079C>T c.4265C>T (p.Ala1422Val) n.4646C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.11041393C>A | CA505743827 | SMARCA4 | c.4353C>A (p.Ala1451=) c.4257C>A (p.Ala1419=) c.4158C>A (p.Ala1386=) c.424C>A c.384C>A (p.Ala128=) c.198C>A (p.Ala66=) n.2498C>A c.2751C>A (p.Ala917=) c.1714C>A c.4254C>A (p.Ala1418=) c.2814C>A (p.Ala938=) c.4167C>A (p.Ala1389=) c.2542C>A c.4263C>A (p.Ala1421=) c.2621C>A n.750C>A c.3680C>A c.2894C>A c.2929C>A c.2911C>A c.2745C>A (p.Ala915=) c.806C>A c.2168C>A (n.2168C>A) c.2600C>A c.2105C>A (n.2105C>A) c.2557C>A n.760C>A c.2511C>A (p.Ala837=) c.4359C>A (p.Ala1453=) n.571C>A n.2695C>A n.2230C>A c.336C>A (p.Ala112=) n.2080C>A c.4266C>A (p.Ala1422=) n.4647C>A | |
| 19 | g.11041393C= | CA2322734872 | SMARCA4 | c.4353C= (p.Ala1451=) c.4257C= (p.Ala1419=) c.4158C= (p.Ala1386=) c.424C= c.384C= (p.Ala128=) c.198C= (p.Ala66=) n.2498C= c.2751C= (p.Ala917=) c.1714C= c.4254C= (p.Ala1418=) c.2814C= (p.Ala938=) c.4167C= (p.Ala1389=) c.2542C= c.4263C= (p.Ala1421=) c.2621C= n.750C= c.3680C= c.2894C= c.2929C= c.2911C= c.2745C= (p.Ala915=) c.806C= c.2168C= (n.2168C=) c.2600C= c.2105C= (n.2105C=) c.2557C= n.760C= c.2511C= (p.Ala837=) c.4359C= (p.Ala1453=) n.571C= n.2695C= n.2230C= c.336C= (p.Ala112=) n.2080C= c.4266C= (p.Ala1422=) n.4647C= | |
| 19 | g.11041393C>G | CA505743828 | SMARCA4 | c.4353C>G (p.Ala1451=) c.4257C>G (p.Ala1419=) c.4158C>G (p.Ala1386=) c.424C>G c.384C>G (p.Ala128=) c.198C>G (p.Ala66=) n.2498C>G c.2751C>G (p.Ala917=) c.1714C>G c.4254C>G (p.Ala1418=) c.2814C>G (p.Ala938=) c.4167C>G (p.Ala1389=) c.2542C>G c.4263C>G (p.Ala1421=) c.2621C>G n.750C>G c.3680C>G c.2894C>G c.2929C>G c.2911C>G c.2745C>G (p.Ala915=) c.806C>G c.2168C>G (n.2168C>G) c.2600C>G c.2105C>G (n.2105C>G) c.2557C>G n.760C>G c.2511C>G (p.Ala837=) c.4359C>G (p.Ala1453=) n.571C>G n.2695C>G n.2230C>G c.336C>G (p.Ala112=) n.2080C>G c.4266C>G (p.Ala1422=) n.4647C>G | dbSNP |
| 19 | g.11041393C>T | CA9204686 | SMARCA4 | c.4353C>T (p.Ala1451=) c.4257C>T (p.Ala1419=) c.4158C>T (p.Ala1386=) c.424C>T c.384C>T (p.Ala128=) c.198C>T (p.Ala66=) n.2498C>T c.2751C>T (p.Ala917=) c.1714C>T c.4254C>T (p.Ala1418=) c.2814C>T (p.Ala938=) c.4167C>T (p.Ala1389=) c.2542C>T c.4263C>T (p.Ala1421=) c.2621C>T n.750C>T c.3680C>T c.2894C>T c.2929C>T c.2911C>T c.2745C>T (p.Ala915=) c.806C>T c.2168C>T (n.2168C>T) c.2600C>T c.2105C>T (n.2105C>T) c.2557C>T n.760C>T c.2511C>T (p.Ala837=) c.4359C>T (p.Ala1453=) n.571C>T n.2695C>T n.2230C>T c.336C>T (p.Ala112=) n.2080C>T c.4266C>T (p.Ala1422=) n.4647C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11041394G>A | CA9204687 | SMARCA4 | c.4354G>A (p.Gly1452Ser) c.4258G>A (p.Gly1420Ser) c.4159G>A (p.Gly1387Ser) c.425G>A c.385G>A (p.Gly129Ser) c.199G>A (p.Gly67Ser) n.2499G>A c.2752G>A (p.Gly918Ser) c.1715G>A c.4255G>A (p.Gly1419Ser) c.2815G>A (p.Gly939Ser) c.4168G>A (p.Gly1390Ser) c.2543G>A c.4264G>A (p.Gly1422Ser) c.2622G>A n.751G>A c.3681G>A c.2895G>A c.2930G>A c.2912G>A c.2746G>A (p.Gly916Ser) c.807G>A c.2169G>A (n.2169G>A) c.2601G>A c.2106G>A (n.2106G>A) c.2558G>A n.761G>A c.2512G>A (p.Gly838Ser) c.4360G>A (p.Gly1454Ser) n.572G>A n.2696G>A n.2231G>A c.337G>A (p.Gly113Ser) n.2081G>A c.4267G>A (p.Gly1423Ser) n.4648G>A | ClinVar dbSNP ExAC gnomAD v4 |
| 19 | g.11041394G>C | CA404073302 | SMARCA4 | c.4354G>C (p.Gly1452Arg) c.4258G>C (p.Gly1420Arg) c.4159G>C (p.Gly1387Arg) c.425G>C c.385G>C (p.Gly129Arg) c.199G>C (p.Gly67Arg) n.2499G>C c.2752G>C (p.Gly918Arg) c.1715G>C c.4255G>C (p.Gly1419Arg) c.2815G>C (p.Gly939Arg) c.4168G>C (p.Gly1390Arg) c.2543G>C c.4264G>C (p.Gly1422Arg) c.2622G>C n.751G>C c.3681G>C c.2895G>C c.2930G>C c.2912G>C c.2746G>C (p.Gly916Arg) c.807G>C c.2169G>C (n.2169G>C) c.2601G>C c.2106G>C (n.2106G>C) c.2558G>C n.761G>C c.2512G>C (p.Gly838Arg) c.4360G>C (p.Gly1454Arg) n.572G>C n.2696G>C n.2231G>C c.337G>C (p.Gly113Arg) n.2081G>C c.4267G>C (p.Gly1423Arg) n.4648G>C | dbSNP |
| 19 | g.11041394G= | CA2322734880 | SMARCA4 | c.4354G= (p.Gly1452=) c.4258G= (p.Gly1420=) c.4159G= (p.Gly1387=) c.425G= c.385G= (p.Gly129=) c.199G= (p.Gly67=) n.2499G= c.2752G= (p.Gly918=) c.1715G= c.4255G= (p.Gly1419=) c.2815G= (p.Gly939=) c.4168G= (p.Gly1390=) c.2543G= c.4264G= (p.Gly1422=) c.2622G= n.751G= c.3681G= c.2895G= c.2930G= c.2912G= c.2746G= (p.Gly916=) c.807G= c.2169G= (n.2169G=) c.2601G= c.2106G= (n.2106G=) c.2558G= n.761G= c.2512G= (p.Gly838=) c.4360G= (p.Gly1454=) n.572G= n.2696G= n.2231G= c.337G= (p.Gly113=) n.2081G= c.4267G= (p.Gly1423=) n.4648G= | |
| 19 | g.11041394G>T | CA404073305 | SMARCA4 | c.4354G>T (p.Gly1452Cys) c.4258G>T (p.Gly1420Cys) c.4159G>T (p.Gly1387Cys) c.425G>T c.385G>T (p.Gly129Cys) c.199G>T (p.Gly67Cys) n.2499G>T c.2752G>T (p.Gly918Cys) c.1715G>T c.4255G>T (p.Gly1419Cys) c.2815G>T (p.Gly939Cys) c.4168G>T (p.Gly1390Cys) c.2543G>T c.4264G>T (p.Gly1422Cys) c.2622G>T n.751G>T c.3681G>T c.2895G>T c.2930G>T c.2912G>T c.2746G>T (p.Gly916Cys) c.807G>T c.2169G>T (n.2169G>T) c.2601G>T c.2106G>T (n.2106G>T) c.2558G>T n.761G>T c.2512G>T (p.Gly838Cys) c.4360G>T (p.Gly1454Cys) n.572G>T n.2696G>T n.2231G>T c.337G>T (p.Gly113Cys) n.2081G>T c.4267G>T (p.Gly1423Cys) n.4648G>T | |
| 19 | g.11041395G>A | CA404073312 | SMARCA4 | c.4355G>A (p.Gly1452Asp) c.4259G>A (p.Gly1420Asp) c.4160G>A (p.Gly1387Asp) c.426G>A c.386G>A (p.Gly129Asp) c.200G>A (p.Gly67Asp) n.2500G>A c.2753G>A (p.Gly918Asp) c.1716G>A c.4256G>A (p.Gly1419Asp) c.2816G>A (p.Gly939Asp) c.4169G>A (p.Gly1390Asp) c.2544G>A c.4265G>A (p.Gly1422Asp) c.2623G>A n.752G>A c.3682G>A c.2896G>A c.2931G>A c.2913G>A c.2747G>A (p.Gly916Asp) c.808G>A c.2170G>A (n.2170G>A) c.2602G>A c.2107G>A (n.2107G>A) c.2559G>A n.762G>A c.2513G>A (p.Gly838Asp) c.4361G>A (p.Gly1454Asp) n.573G>A n.2697G>A n.2232G>A c.338G>A (p.Gly113Asp) n.2082G>A c.4268G>A (p.Gly1423Asp) n.4649G>A | ClinVar dbSNP |
| 19 | g.11041395G>C | CA404073316 | SMARCA4 | c.4355G>C (p.Gly1452Ala) c.4259G>C (p.Gly1420Ala) c.4160G>C (p.Gly1387Ala) c.426G>C c.386G>C (p.Gly129Ala) c.200G>C (p.Gly67Ala) n.2500G>C c.2753G>C (p.Gly918Ala) c.1716G>C c.4256G>C (p.Gly1419Ala) c.2816G>C (p.Gly939Ala) c.4169G>C (p.Gly1390Ala) c.2544G>C c.4265G>C (p.Gly1422Ala) c.2623G>C n.752G>C c.3682G>C c.2896G>C c.2931G>C c.2913G>C c.2747G>C (p.Gly916Ala) c.808G>C c.2170G>C (n.2170G>C) c.2602G>C c.2107G>C (n.2107G>C) c.2559G>C n.762G>C c.2513G>C (p.Gly838Ala) c.4361G>C (p.Gly1454Ala) n.573G>C n.2697G>C n.2232G>C c.338G>C (p.Gly113Ala) n.2082G>C c.4268G>C (p.Gly1423Ala) n.4649G>C | ClinVar dbSNP |
| 19 | g.11041395G= | CA2322734884 | SMARCA4 | c.4355G= (p.Gly1452=) c.4259G= (p.Gly1420=) c.4160G= (p.Gly1387=) c.426G= c.386G= (p.Gly129=) c.200G= (p.Gly67=) n.2500G= c.2753G= (p.Gly918=) c.1716G= c.4256G= (p.Gly1419=) c.2816G= (p.Gly939=) c.4169G= (p.Gly1390=) c.2544G= c.4265G= (p.Gly1422=) c.2623G= n.752G= c.3682G= c.2896G= c.2931G= c.2913G= c.2747G= (p.Gly916=) c.808G= c.2170G= (n.2170G=) c.2602G= c.2107G= (n.2107G=) c.2559G= n.762G= c.2513G= (p.Gly838=) c.4361G= (p.Gly1454=) n.573G= n.2697G= n.2232G= c.338G= (p.Gly113=) n.2082G= c.4268G= (p.Gly1423=) n.4649G= | |
| 19 | g.11041395G>T | CA404073318 | SMARCA4 | c.4355G>T (p.Gly1452Val) c.4259G>T (p.Gly1420Val) c.4160G>T (p.Gly1387Val) c.426G>T c.386G>T (p.Gly129Val) c.200G>T (p.Gly67Val) n.2500G>T c.2753G>T (p.Gly918Val) c.1716G>T c.4256G>T (p.Gly1419Val) c.2816G>T (p.Gly939Val) c.4169G>T (p.Gly1390Val) c.2544G>T c.4265G>T (p.Gly1422Val) c.2623G>T n.752G>T c.3682G>T c.2896G>T c.2931G>T c.2913G>T c.2747G>T (p.Gly916Val) c.808G>T c.2170G>T (n.2170G>T) c.2602G>T c.2107G>T (n.2107G>T) c.2559G>T n.762G>T c.2513G>T (p.Gly838Val) c.4361G>T (p.Gly1454Val) n.573G>T n.2697G>T n.2232G>T c.338G>T (p.Gly113Val) n.2082G>T c.4268G>T (p.Gly1423Val) n.4649G>T | ClinVar dbSNP |
| 19 | g.11041396C>A | CA505743830 | SMARCA4 | c.4356C>A (p.Gly1452=) c.4260C>A (p.Gly1420=) c.4161C>A (p.Gly1387=) c.427C>A c.387C>A (p.Gly129=) c.201C>A (p.Gly67=) n.2501C>A c.2754C>A (p.Gly918=) c.1717C>A c.4257C>A (p.Gly1419=) c.2817C>A (p.Gly939=) c.4170C>A (p.Gly1390=) c.2545C>A c.4266C>A (p.Gly1422=) c.2624C>A n.753C>A c.3683C>A c.2897C>A c.2932C>A c.2914C>A c.2748C>A (p.Gly916=) c.809C>A c.2171C>A (n.2171C>A) c.2603C>A c.2108C>A (n.2108C>A) c.2560C>A n.763C>A c.2514C>A (p.Gly838=) c.4362C>A (p.Gly1454=) n.574C>A n.2698C>A n.2233C>A c.339C>A (p.Gly113=) n.2083C>A c.4269C>A (p.Gly1423=) n.4650C>A | dbSNP |
| 19 | g.11041396C= | CA2322734885 | SMARCA4 | c.4356C= (p.Gly1452=) c.4260C= (p.Gly1420=) c.4161C= (p.Gly1387=) c.427C= c.387C= (p.Gly129=) c.201C= (p.Gly67=) n.2501C= c.2754C= (p.Gly918=) c.1717C= c.4257C= (p.Gly1419=) c.2817C= (p.Gly939=) c.4170C= (p.Gly1390=) c.2545C= c.4266C= (p.Gly1422=) c.2624C= n.753C= c.3683C= c.2897C= c.2932C= c.2914C= c.2748C= (p.Gly916=) c.809C= c.2171C= (n.2171C=) c.2603C= c.2108C= (n.2108C=) c.2560C= n.763C= c.2514C= (p.Gly838=) c.4362C= (p.Gly1454=) n.574C= n.2698C= n.2233C= c.339C= (p.Gly113=) n.2083C= c.4269C= (p.Gly1423=) n.4650C= | |
| 19 | g.11041396C>G | CA505743829 | SMARCA4 | c.4356C>G (p.Gly1452=) c.4260C>G (p.Gly1420=) c.4161C>G (p.Gly1387=) c.427C>G c.387C>G (p.Gly129=) c.201C>G (p.Gly67=) n.2501C>G c.2754C>G (p.Gly918=) c.1717C>G c.4257C>G (p.Gly1419=) c.2817C>G (p.Gly939=) c.4170C>G (p.Gly1390=) c.2545C>G c.4266C>G (p.Gly1422=) c.2624C>G n.753C>G c.3683C>G c.2897C>G c.2932C>G c.2914C>G c.2748C>G (p.Gly916=) c.809C>G c.2171C>G (n.2171C>G) c.2603C>G c.2108C>G (n.2108C>G) c.2560C>G n.763C>G c.2514C>G (p.Gly838=) c.4362C>G (p.Gly1454=) n.574C>G n.2698C>G n.2233C>G c.339C>G (p.Gly113=) n.2083C>G c.4269C>G (p.Gly1423=) n.4650C>G | dbSNP |
| 19 | g.11041396C>T | CA305294352 | SMARCA4 | c.4356C>T (p.Gly1452=) c.4260C>T (p.Gly1420=) c.4161C>T (p.Gly1387=) c.427C>T c.387C>T (p.Gly129=) c.201C>T (p.Gly67=) n.2501C>T c.2754C>T (p.Gly918=) c.1717C>T c.4257C>T (p.Gly1419=) c.2817C>T (p.Gly939=) c.4170C>T (p.Gly1390=) c.2545C>T c.4266C>T (p.Gly1422=) c.2624C>T n.753C>T c.3683C>T c.2897C>T c.2932C>T c.2914C>T c.2748C>T (p.Gly916=) c.809C>T c.2171C>T (n.2171C>T) c.2603C>T c.2108C>T (n.2108C>T) c.2560C>T n.763C>T c.2514C>T (p.Gly838=) c.4362C>T (p.Gly1454=) n.574C>T n.2698C>T n.2233C>T c.339C>T (p.Gly113=) n.2083C>T c.4269C>T (p.Gly1423=) n.4650C>T | ClinVar dbSNP gnomAD v4 |
| 19 | g.11041397T>A | CA404073334 | SMARCA4 | c.4357T>A (p.Ser1453Thr) c.4261T>A (p.Ser1421Thr) c.4162T>A (p.Ser1388Thr) c.428T>A c.388T>A (p.Ser130Thr) c.202T>A (p.Ser68Thr) n.2502T>A c.2755T>A (p.Ser919Thr) c.1718T>A c.4258T>A (p.Ser1420Thr) c.2818T>A (p.Ser940Thr) c.4171T>A (p.Ser1391Thr) c.2546T>A c.4267T>A (p.Ser1423Thr) c.2625T>A n.754T>A c.3684T>A c.2898T>A c.2933T>A c.2915T>A c.2749T>A (p.Ser917Thr) c.810T>A c.2172T>A (n.2172T>A) c.2604T>A c.2109T>A (n.2109T>A) c.2561T>A n.764T>A c.2515T>A (p.Ser839Thr) c.4363T>A (p.Ser1455Thr) n.575T>A n.2699T>A n.2234T>A c.340T>A (p.Ser114Thr) n.2084T>A c.4270T>A (p.Ser1424Thr) n.4651T>A | dbSNP |
| 19 | g.11041397T>C | CA404073337 | SMARCA4 | c.4357T>C (p.Ser1453Pro) c.4261T>C (p.Ser1421Pro) c.4162T>C (p.Ser1388Pro) c.428T>C c.388T>C (p.Ser130Pro) c.202T>C (p.Ser68Pro) n.2502T>C c.2755T>C (p.Ser919Pro) c.1718T>C c.4258T>C (p.Ser1420Pro) c.2818T>C (p.Ser940Pro) c.4171T>C (p.Ser1391Pro) c.2546T>C c.4267T>C (p.Ser1423Pro) c.2625T>C n.754T>C c.3684T>C c.2898T>C c.2933T>C c.2915T>C c.2749T>C (p.Ser917Pro) c.810T>C c.2172T>C (n.2172T>C) c.2604T>C c.2109T>C (n.2109T>C) c.2561T>C n.764T>C c.2515T>C (p.Ser839Pro) c.4363T>C (p.Ser1455Pro) n.575T>C n.2699T>C n.2234T>C c.340T>C (p.Ser114Pro) n.2084T>C c.4270T>C (p.Ser1424Pro) n.4651T>C | ClinVar dbSNP |
| 19 | g.11041397T>G | CA404073341 | SMARCA4 | c.4357T>G (p.Ser1453Ala) c.4261T>G (p.Ser1421Ala) c.4162T>G (p.Ser1388Ala) c.428T>G c.388T>G (p.Ser130Ala) c.202T>G (p.Ser68Ala) n.2502T>G c.2755T>G (p.Ser919Ala) c.1718T>G c.4258T>G (p.Ser1420Ala) c.2818T>G (p.Ser940Ala) c.4171T>G (p.Ser1391Ala) c.2546T>G c.4267T>G (p.Ser1423Ala) c.2625T>G n.754T>G c.3684T>G c.2898T>G c.2933T>G c.2915T>G c.2749T>G (p.Ser917Ala) c.810T>G c.2172T>G (n.2172T>G) c.2604T>G c.2109T>G (n.2109T>G) c.2561T>G n.764T>G c.2515T>G (p.Ser839Ala) c.4363T>G (p.Ser1455Ala) n.575T>G n.2699T>G n.2234T>G c.340T>G (p.Ser114Ala) n.2084T>G c.4270T>G (p.Ser1424Ala) n.4651T>G | |
| 19 | g.11041398C>A | CA404073345 | SMARCA4 | c.4358C>A (p.Ser1453Tyr) c.4262C>A (p.Ser1421Tyr) c.4163C>A (p.Ser1388Tyr) c.429C>A c.389C>A (p.Ser130Tyr) c.203C>A (p.Ser68Tyr) n.2503C>A c.2756C>A (p.Ser919Tyr) c.1719C>A c.4259C>A (p.Ser1420Tyr) c.2819C>A (p.Ser940Tyr) c.4172C>A (p.Ser1391Tyr) c.2547C>A c.4268C>A (p.Ser1423Tyr) c.2626C>A n.755C>A c.3685C>A c.2899C>A c.2934C>A c.2916C>A c.2750C>A (p.Ser917Tyr) c.811C>A c.2173C>A (n.2173C>A) c.2605C>A c.2110C>A (n.2110C>A) c.2562C>A n.765C>A c.2516C>A (p.Ser839Tyr) c.4364C>A (p.Ser1455Tyr) n.576C>A n.2700C>A n.2235C>A c.341C>A (p.Ser114Tyr) n.2085C>A c.4271C>A (p.Ser1424Tyr) n.4652C>A | gnomAD v4 |
| 19 | g.11041398C= | CA2322734887 | SMARCA4 | c.4358C= (p.Ser1453=) c.4262C= (p.Ser1421=) c.4163C= (p.Ser1388=) c.429C= c.389C= (p.Ser130=) c.203C= (p.Ser68=) n.2503C= c.2756C= (p.Ser919=) c.1719C= c.4259C= (p.Ser1420=) c.2819C= (p.Ser940=) c.4172C= (p.Ser1391=) c.2547C= c.4268C= (p.Ser1423=) c.2626C= n.755C= c.3685C= c.2899C= c.2934C= c.2916C= c.2750C= (p.Ser917=) c.811C= c.2173C= (n.2173C=) c.2605C= c.2110C= (n.2110C=) c.2562C= n.765C= c.2516C= (p.Ser839=) c.4364C= (p.Ser1455=) n.576C= n.2700C= n.2235C= c.341C= (p.Ser114=) n.2085C= c.4271C= (p.Ser1424=) n.4652C= | |
| 19 | g.11041398C>G | CA404073364 | SMARCA4 | c.4358C>G (p.Ser1453Cys) c.4262C>G (p.Ser1421Cys) c.4163C>G (p.Ser1388Cys) c.429C>G c.389C>G (p.Ser130Cys) c.203C>G (p.Ser68Cys) n.2503C>G c.2756C>G (p.Ser919Cys) c.1719C>G c.4259C>G (p.Ser1420Cys) c.2819C>G (p.Ser940Cys) c.4172C>G (p.Ser1391Cys) c.2547C>G c.4268C>G (p.Ser1423Cys) c.2626C>G n.755C>G c.3685C>G c.2899C>G c.2934C>G c.2916C>G c.2750C>G (p.Ser917Cys) c.811C>G c.2173C>G (n.2173C>G) c.2605C>G c.2110C>G (n.2110C>G) c.2562C>G n.765C>G c.2516C>G (p.Ser839Cys) c.4364C>G (p.Ser1455Cys) n.576C>G n.2700C>G n.2235C>G c.341C>G (p.Ser114Cys) n.2085C>G c.4271C>G (p.Ser1424Cys) n.4652C>G | dbSNP |
| 19 | g.11041398C>T | CA9204688 | SMARCA4 | c.4358C>T (p.Ser1453Phe) c.4262C>T (p.Ser1421Phe) c.4163C>T (p.Ser1388Phe) c.429C>T c.389C>T (p.Ser130Phe) c.203C>T (p.Ser68Phe) n.2503C>T c.2756C>T (p.Ser919Phe) c.1719C>T c.4259C>T (p.Ser1420Phe) c.2819C>T (p.Ser940Phe) c.4172C>T (p.Ser1391Phe) c.2547C>T c.4268C>T (p.Ser1423Phe) c.2626C>T n.755C>T c.3685C>T c.2899C>T c.2934C>T c.2916C>T c.2750C>T (p.Ser917Phe) c.811C>T c.2173C>T (n.2173C>T) c.2605C>T c.2110C>T (n.2110C>T) c.2562C>T n.765C>T c.2516C>T (p.Ser839Phe) c.4364C>T (p.Ser1455Phe) n.576C>T n.2700C>T n.2235C>T c.341C>T (p.Ser114Phe) n.2085C>T c.4271C>T (p.Ser1424Phe) n.4652C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11041399C>A | CA505743831 | SMARCA4 | c.4359C>A (p.Ser1453=) c.4263C>A (p.Ser1421=) c.4164C>A (p.Ser1388=) c.430C>A c.390C>A (p.Ser130=) c.204C>A (p.Ser68=) n.2504C>A c.2757C>A (p.Ser919=) c.1720C>A c.4260C>A (p.Ser1420=) c.2820C>A (p.Ser940=) c.4173C>A (p.Ser1391=) c.2548C>A c.4269C>A (p.Ser1423=) c.2627C>A n.756C>A c.3686C>A c.2900C>A c.2935C>A c.2917C>A c.2751C>A (p.Ser917=) c.812C>A c.2174C>A (n.2174C>A) c.2606C>A c.2111C>A (n.2111C>A) c.2563C>A n.766C>A c.2517C>A (p.Ser839=) c.4365C>A (p.Ser1455=) n.577C>A n.2701C>A n.2236C>A c.342C>A (p.Ser114=) n.2086C>A c.4272C>A (p.Ser1424=) n.4653C>A | |
| 19 | g.11041399C>G | CA505743832 | SMARCA4 | c.4359C>G (p.Ser1453=) c.4263C>G (p.Ser1421=) c.4164C>G (p.Ser1388=) c.430C>G c.390C>G (p.Ser130=) c.204C>G (p.Ser68=) n.2504C>G c.2757C>G (p.Ser919=) c.1720C>G c.4260C>G (p.Ser1420=) c.2820C>G (p.Ser940=) c.4173C>G (p.Ser1391=) c.2548C>G c.4269C>G (p.Ser1423=) c.2627C>G n.756C>G c.3686C>G c.2900C>G c.2935C>G c.2917C>G c.2751C>G (p.Ser917=) c.812C>G c.2174C>G (n.2174C>G) c.2606C>G c.2111C>G (n.2111C>G) c.2563C>G n.766C>G c.2517C>G (p.Ser839=) c.4365C>G (p.Ser1455=) n.577C>G n.2701C>G n.2236C>G c.342C>G (p.Ser114=) n.2086C>G c.4272C>G (p.Ser1424=) n.4653C>G | |
| 19 | g.11041399C>T | CA505743833 | SMARCA4 | c.4359C>T (p.Ser1453=) c.4263C>T (p.Ser1421=) c.4164C>T (p.Ser1388=) c.430C>T c.390C>T (p.Ser130=) c.204C>T (p.Ser68=) n.2504C>T c.2757C>T (p.Ser919=) c.1720C>T c.4260C>T (p.Ser1420=) c.2820C>T (p.Ser940=) c.4173C>T (p.Ser1391=) c.2548C>T c.4269C>T (p.Ser1423=) c.2627C>T n.756C>T c.3686C>T c.2900C>T c.2935C>T c.2917C>T c.2751C>T (p.Ser917=) c.812C>T c.2174C>T (n.2174C>T) c.2606C>T c.2111C>T (n.2111C>T) c.2563C>T n.766C>T c.2517C>T (p.Ser839=) c.4365C>T (p.Ser1455=) n.577C>T n.2701C>T n.2236C>T c.342C>T (p.Ser114=) n.2086C>T c.4272C>T (p.Ser1424=) n.4653C>T | ClinVar dbSNP |
| 19 | g.11041400T>A | CA404073370 | SMARCA4 | c.4360T>A (p.Ser1454Thr) c.4264T>A (p.Ser1422Thr) c.4165T>A (p.Ser1389Thr) c.431T>A c.391T>A (p.Ser131Thr) c.205T>A (p.Ser69Thr) n.2505T>A c.2758T>A (p.Ser920Thr) c.1721T>A c.4261T>A (p.Ser1421Thr) c.2821T>A (p.Ser941Thr) c.4174T>A (p.Ser1392Thr) c.2549T>A c.4270T>A (p.Ser1424Thr) c.2628T>A n.757T>A c.3687T>A c.2901T>A c.2936T>A c.2918T>A c.2752T>A (p.Ser918Thr) c.813T>A c.2175T>A (n.2175T>A) c.2607T>A c.2112T>A (n.2112T>A) c.2564T>A n.767T>A c.2518T>A (p.Ser840Thr) c.4366T>A (p.Ser1456Thr) n.578T>A n.2702T>A n.2237T>A c.343T>A (p.Ser115Thr) n.2087T>A c.4273T>A (p.Ser1425Thr) n.4654T>A | |
| 19 | g.11041400T>C | CA404073374 | SMARCA4 | c.4360T>C (p.Ser1454Pro) c.4264T>C (p.Ser1422Pro) c.4165T>C (p.Ser1389Pro) c.431T>C c.391T>C (p.Ser131Pro) c.205T>C (p.Ser69Pro) n.2505T>C c.2758T>C (p.Ser920Pro) c.1721T>C c.4261T>C (p.Ser1421Pro) c.2821T>C (p.Ser941Pro) c.4174T>C (p.Ser1392Pro) c.2549T>C c.4270T>C (p.Ser1424Pro) c.2628T>C n.757T>C c.3687T>C c.2901T>C c.2936T>C c.2918T>C c.2752T>C (p.Ser918Pro) c.813T>C c.2175T>C (n.2175T>C) c.2607T>C c.2112T>C (n.2112T>C) c.2564T>C n.767T>C c.2518T>C (p.Ser840Pro) c.4366T>C (p.Ser1456Pro) n.578T>C n.2702T>C n.2237T>C c.343T>C (p.Ser115Pro) n.2087T>C c.4273T>C (p.Ser1425Pro) n.4654T>C | |
| 19 | g.11041400T>G | CA404073378 | SMARCA4 | c.4360T>G (p.Ser1454Ala) c.4264T>G (p.Ser1422Ala) c.4165T>G (p.Ser1389Ala) c.431T>G c.391T>G (p.Ser131Ala) c.205T>G (p.Ser69Ala) n.2505T>G c.2758T>G (p.Ser920Ala) c.1721T>G c.4261T>G (p.Ser1421Ala) c.2821T>G (p.Ser941Ala) c.4174T>G (p.Ser1392Ala) c.2549T>G c.4270T>G (p.Ser1424Ala) c.2628T>G n.757T>G c.3687T>G c.2901T>G c.2936T>G c.2918T>G c.2752T>G (p.Ser918Ala) c.813T>G c.2175T>G (n.2175T>G) c.2607T>G c.2112T>G (n.2112T>G) c.2564T>G n.767T>G c.2518T>G (p.Ser840Ala) c.4366T>G (p.Ser1456Ala) n.578T>G n.2702T>G n.2237T>G c.343T>G (p.Ser115Ala) n.2087T>G c.4273T>G (p.Ser1425Ala) n.4654T>G | |
| 19 | g.11041401C>A | CA404073383 | SMARCA4 | c.4361C>A (p.Ser1454Tyr) c.4265C>A (p.Ser1422Tyr) c.4166C>A (p.Ser1389Tyr) c.432C>A c.392C>A (p.Ser131Tyr) c.206C>A (p.Ser69Tyr) n.2506C>A c.2759C>A (p.Ser920Tyr) c.1722C>A c.4262C>A (p.Ser1421Tyr) c.2822C>A (p.Ser941Tyr) c.4175C>A (p.Ser1392Tyr) c.2550C>A c.4271C>A (p.Ser1424Tyr) c.2629C>A n.758C>A c.3688C>A c.2902C>A c.2937C>A c.2919C>A c.2753C>A (p.Ser918Tyr) c.814C>A c.2176C>A (n.2176C>A) c.2608C>A c.2113C>A (n.2113C>A) c.2565C>A n.768C>A c.2519C>A (p.Ser840Tyr) c.4367C>A (p.Ser1456Tyr) n.579C>A n.2703C>A n.2238C>A c.344C>A (p.Ser115Tyr) n.2088C>A c.4274C>A (p.Ser1425Tyr) n.4655C>A | dbSNP |
| 19 | g.11041401C>G | CA404073387 | SMARCA4 | c.4361C>G (p.Ser1454Cys) c.4265C>G (p.Ser1422Cys) c.4166C>G (p.Ser1389Cys) c.432C>G c.392C>G (p.Ser131Cys) c.206C>G (p.Ser69Cys) n.2506C>G c.2759C>G (p.Ser920Cys) c.1722C>G c.4262C>G (p.Ser1421Cys) c.2822C>G (p.Ser941Cys) c.4175C>G (p.Ser1392Cys) c.2550C>G c.4271C>G (p.Ser1424Cys) c.2629C>G n.758C>G c.3688C>G c.2902C>G c.2937C>G c.2919C>G c.2753C>G (p.Ser918Cys) c.814C>G c.2176C>G (n.2176C>G) c.2608C>G c.2113C>G (n.2113C>G) c.2565C>G n.768C>G c.2519C>G (p.Ser840Cys) c.4367C>G (p.Ser1456Cys) n.579C>G n.2703C>G n.2238C>G c.344C>G (p.Ser115Cys) n.2088C>G c.4274C>G (p.Ser1425Cys) n.4655C>G | dbSNP |
| 19 | g.11041401C>T | CA404073390 | SMARCA4 | c.4361C>T (p.Ser1454Phe) c.4265C>T (p.Ser1422Phe) c.4166C>T (p.Ser1389Phe) c.432C>T c.392C>T (p.Ser131Phe) c.206C>T (p.Ser69Phe) n.2506C>T c.2759C>T (p.Ser920Phe) c.1722C>T c.4262C>T (p.Ser1421Phe) c.2822C>T (p.Ser941Phe) c.4175C>T (p.Ser1392Phe) c.2550C>T c.4271C>T (p.Ser1424Phe) c.2629C>T n.758C>T c.3688C>T c.2902C>T c.2937C>T c.2919C>T c.2753C>T (p.Ser918Phe) c.814C>T c.2176C>T (n.2176C>T) c.2608C>T c.2113C>T (n.2113C>T) c.2565C>T n.768C>T c.2519C>T (p.Ser840Phe) c.4367C>T (p.Ser1456Phe) n.579C>T n.2703C>T n.2238C>T c.344C>T (p.Ser115Phe) n.2088C>T c.4274C>T (p.Ser1425Phe) n.4655C>T | ClinVar dbSNP |
| 19 | g.11041402C>A | CA505743834 | SMARCA4 | c.4362C>A (p.Ser1454=) c.4266C>A (p.Ser1422=) c.4167C>A (p.Ser1389=) c.433C>A c.393C>A (p.Ser131=) c.207C>A (p.Ser69=) n.2507C>A c.2760C>A (p.Ser920=) c.1723C>A c.4263C>A (p.Ser1421=) c.2823C>A (p.Ser941=) c.4176C>A (p.Ser1392=) c.2551C>A c.4272C>A (p.Ser1424=) c.2630C>A n.759C>A c.3689C>A c.2903C>A c.2938C>A c.2920C>A c.2754C>A (p.Ser918=) c.815C>A c.2177C>A (n.2177C>A) c.2609C>A c.2114C>A (n.2114C>A) c.2566C>A n.769C>A c.2520C>A (p.Ser840=) c.4368C>A (p.Ser1456=) n.580C>A n.2704C>A n.2239C>A c.345C>A (p.Ser115=) n.2089C>A c.4275C>A (p.Ser1425=) n.4656C>A | dbSNP |
| 19 | g.11041402C>G | CA505743836 | SMARCA4 | c.4362C>G (p.Ser1454=) c.4266C>G (p.Ser1422=) c.4167C>G (p.Ser1389=) c.433C>G c.393C>G (p.Ser131=) c.207C>G (p.Ser69=) n.2507C>G c.2760C>G (p.Ser920=) c.1723C>G c.4263C>G (p.Ser1421=) c.2823C>G (p.Ser941=) c.4176C>G (p.Ser1392=) c.2551C>G c.4272C>G (p.Ser1424=) c.2630C>G n.759C>G c.3689C>G c.2903C>G c.2938C>G c.2920C>G c.2754C>G (p.Ser918=) c.815C>G c.2177C>G (n.2177C>G) c.2609C>G c.2114C>G (n.2114C>G) c.2566C>G n.769C>G c.2520C>G (p.Ser840=) c.4368C>G (p.Ser1456=) n.580C>G n.2704C>G n.2239C>G c.345C>G (p.Ser115=) n.2089C>G c.4275C>G (p.Ser1425=) n.4656C>G | dbSNP |
| 19 | g.11041402C>T | CA505743835 | SMARCA4 | c.4362C>T (p.Ser1454=) c.4266C>T (p.Ser1422=) c.4167C>T (p.Ser1389=) c.433C>T c.393C>T (p.Ser131=) c.207C>T (p.Ser69=) n.2507C>T c.2760C>T (p.Ser920=) c.1723C>T c.4263C>T (p.Ser1421=) c.2823C>T (p.Ser941=) c.4176C>T (p.Ser1392=) c.2551C>T c.4272C>T (p.Ser1424=) c.2630C>T n.759C>T c.3689C>T c.2903C>T c.2938C>T c.2920C>T c.2754C>T (p.Ser918=) c.815C>T c.2177C>T (n.2177C>T) c.2609C>T c.2114C>T (n.2114C>T) c.2566C>T n.769C>T c.2520C>T (p.Ser840=) c.4368C>T (p.Ser1456=) n.580C>T n.2704C>T n.2239C>T c.345C>T (p.Ser115=) n.2089C>T c.4275C>T (p.Ser1425=) n.4656C>T | ClinVar dbSNP gnomAD v4 |
| 19 | g.11041403A= | CA2322734893 | SMARCA4 | c.4363A= (p.Thr1455=) c.4267A= (p.Thr1423=) c.4168A= (p.Thr1390=) c.434A= c.394A= (p.Thr132=) c.208A= (p.Thr70=) n.2508A= c.2761A= (p.Thr921=) c.1724A= c.4264A= (p.Thr1422=) c.2824A= (p.Thr942=) c.4177A= (p.Thr1393=) c.2552A= c.4273A= (p.Thr1425=) c.2631A= n.760A= c.3690A= c.2904A= c.2939A= c.2921A= c.2755A= (p.Thr919=) c.816A= c.2178A= (n.2178A=) c.2610A= c.2115A= (n.2115A=) c.2567A= n.770A= c.2521A= (p.Thr841=) c.4369A= (p.Thr1457=) n.581A= n.2705A= n.2240A= c.346A= (p.Thr116=) n.2090A= c.4276A= (p.Thr1426=) n.4657A= | |
| 19 | g.11041403A>C | CA404073404 | SMARCA4 | c.4363A>C (p.Thr1455Pro) c.4267A>C (p.Thr1423Pro) c.4168A>C (p.Thr1390Pro) c.434A>C c.394A>C (p.Thr132Pro) c.208A>C (p.Thr70Pro) n.2508A>C c.2761A>C (p.Thr921Pro) c.1724A>C c.4264A>C (p.Thr1422Pro) c.2824A>C (p.Thr942Pro) c.4177A>C (p.Thr1393Pro) c.2552A>C c.4273A>C (p.Thr1425Pro) c.2631A>C n.760A>C c.3690A>C c.2904A>C c.2939A>C c.2921A>C c.2755A>C (p.Thr919Pro) c.816A>C c.2178A>C (n.2178A>C) c.2610A>C c.2115A>C (n.2115A>C) c.2567A>C n.770A>C c.2521A>C (p.Thr841Pro) c.4369A>C (p.Thr1457Pro) n.581A>C n.2705A>C n.2240A>C c.346A>C (p.Thr116Pro) n.2090A>C c.4276A>C (p.Thr1426Pro) n.4657A>C | ClinVar dbSNP |
| 19 | g.11041403A>G | CA404073400 | SMARCA4 | c.4363A>G (p.Thr1455Ala) c.4267A>G (p.Thr1423Ala) c.4168A>G (p.Thr1390Ala) c.434A>G c.394A>G (p.Thr132Ala) c.208A>G (p.Thr70Ala) n.2508A>G c.2761A>G (p.Thr921Ala) c.1724A>G c.4264A>G (p.Thr1422Ala) c.2824A>G (p.Thr942Ala) c.4177A>G (p.Thr1393Ala) c.2552A>G c.4273A>G (p.Thr1425Ala) c.2631A>G n.760A>G c.3690A>G c.2904A>G c.2939A>G c.2921A>G c.2755A>G (p.Thr919Ala) c.816A>G c.2178A>G (n.2178A>G) c.2610A>G c.2115A>G (n.2115A>G) c.2567A>G n.770A>G c.2521A>G (p.Thr841Ala) c.4369A>G (p.Thr1457Ala) n.581A>G n.2705A>G n.2240A>G c.346A>G (p.Thr116Ala) n.2090A>G c.4276A>G (p.Thr1426Ala) n.4657A>G | ClinVar dbSNP COSMIC COSMIC |
| 19 | g.11041403A>T | CA404073393 | SMARCA4 | c.4363A>T (p.Thr1455Ser) c.4267A>T (p.Thr1423Ser) c.4168A>T (p.Thr1390Ser) c.434A>T c.394A>T (p.Thr132Ser) c.208A>T (p.Thr70Ser) n.2508A>T c.2761A>T (p.Thr921Ser) c.1724A>T c.4264A>T (p.Thr1422Ser) c.2824A>T (p.Thr942Ser) c.4177A>T (p.Thr1393Ser) c.2552A>T c.4273A>T (p.Thr1425Ser) c.2631A>T n.760A>T c.3690A>T c.2904A>T c.2939A>T c.2921A>T c.2755A>T (p.Thr919Ser) c.816A>T c.2178A>T (n.2178A>T) c.2610A>T c.2115A>T (n.2115A>T) c.2567A>T n.770A>T c.2521A>T (p.Thr841Ser) c.4369A>T (p.Thr1457Ser) n.581A>T n.2705A>T n.2240A>T c.346A>T (p.Thr116Ser) n.2090A>T c.4276A>T (p.Thr1426Ser) n.4657A>T | ClinVar dbSNP |
| 19 | g.11041404C>A | CA404073419 | SMARCA4 | c.4364C>A (p.Thr1455Asn) c.4268C>A (p.Thr1423Asn) c.4169C>A (p.Thr1390Asn) c.435C>A c.395C>A (p.Thr132Asn) c.209C>A (p.Thr70Asn) n.2509C>A c.2762C>A (p.Thr921Asn) c.1725C>A c.4265C>A (p.Thr1422Asn) c.2825C>A (p.Thr942Asn) c.4178C>A (p.Thr1393Asn) c.2553C>A c.4274C>A (p.Thr1425Asn) c.2632C>A n.761C>A c.3691C>A c.2905C>A c.2940C>A c.2922C>A c.2756C>A (p.Thr919Asn) c.817C>A c.2179C>A (n.2179C>A) c.2611C>A c.2116C>A (n.2116C>A) c.2568C>A n.771C>A c.2522C>A (p.Thr841Asn) c.4370C>A (p.Thr1457Asn) n.582C>A n.2706C>A n.2241C>A c.347C>A (p.Thr116Asn) n.2091C>A c.4277C>A (p.Thr1426Asn) n.4658C>A | |
| 19 | g.11041404C= | CA2322734897 | SMARCA4 | c.4364C= (p.Thr1455=) c.4268C= (p.Thr1423=) c.4169C= (p.Thr1390=) c.435C= c.395C= (p.Thr132=) c.209C= (p.Thr70=) n.2509C= c.2762C= (p.Thr921=) c.1725C= c.4265C= (p.Thr1422=) c.2825C= (p.Thr942=) c.4178C= (p.Thr1393=) c.2553C= c.4274C= (p.Thr1425=) c.2632C= n.761C= c.3691C= c.2905C= c.2940C= c.2922C= c.2756C= (p.Thr919=) c.817C= c.2179C= (n.2179C=) c.2611C= c.2116C= (n.2116C=) c.2568C= n.771C= c.2522C= (p.Thr841=) c.4370C= (p.Thr1457=) n.582C= n.2706C= n.2241C= c.347C= (p.Thr116=) n.2091C= c.4277C= (p.Thr1426=) n.4658C= | |
| 19 | g.11041404C>G | CA404073412 | SMARCA4 | c.4364C>G (p.Thr1455Ser) c.4268C>G (p.Thr1423Ser) c.4169C>G (p.Thr1390Ser) c.435C>G c.395C>G (p.Thr132Ser) c.209C>G (p.Thr70Ser) n.2509C>G c.2762C>G (p.Thr921Ser) c.1725C>G c.4265C>G (p.Thr1422Ser) c.2825C>G (p.Thr942Ser) c.4178C>G (p.Thr1393Ser) c.2553C>G c.4274C>G (p.Thr1425Ser) c.2632C>G n.761C>G c.3691C>G c.2905C>G c.2940C>G c.2922C>G c.2756C>G (p.Thr919Ser) c.817C>G c.2179C>G (n.2179C>G) c.2611C>G c.2116C>G (n.2116C>G) c.2568C>G n.771C>G c.2522C>G (p.Thr841Ser) c.4370C>G (p.Thr1457Ser) n.582C>G n.2706C>G n.2241C>G c.347C>G (p.Thr116Ser) n.2091C>G c.4277C>G (p.Thr1426Ser) n.4658C>G | |
| 19 | g.11041404C>T | CA404073415 | SMARCA4 | c.4364C>T (p.Thr1455Ile) c.4268C>T (p.Thr1423Ile) c.4169C>T (p.Thr1390Ile) c.435C>T c.395C>T (p.Thr132Ile) c.209C>T (p.Thr70Ile) n.2509C>T c.2762C>T (p.Thr921Ile) c.1725C>T c.4265C>T (p.Thr1422Ile) c.2825C>T (p.Thr942Ile) c.4178C>T (p.Thr1393Ile) c.2553C>T c.4274C>T (p.Thr1425Ile) c.2632C>T n.761C>T c.3691C>T c.2905C>T c.2940C>T c.2922C>T c.2756C>T (p.Thr919Ile) c.817C>T c.2179C>T (n.2179C>T) c.2611C>T c.2116C>T (n.2116C>T) c.2568C>T n.771C>T c.2522C>T (p.Thr841Ile) c.4370C>T (p.Thr1457Ile) n.582C>T n.2706C>T n.2241C>T c.347C>T (p.Thr116Ile) n.2091C>T c.4277C>T (p.Thr1426Ile) n.4658C>T | dbSNP gnomAD v4 |
| 19 | g.11041405C>A | CA505743837 | SMARCA4 | c.4365C>A (p.Thr1455=) c.4269C>A (p.Thr1423=) c.4170C>A (p.Thr1390=) c.436C>A c.396C>A (p.Thr132=) c.210C>A (p.Thr70=) n.2510C>A c.2763C>A (p.Thr921=) c.1726C>A c.4266C>A (p.Thr1422=) c.2826C>A (p.Thr942=) c.4179C>A (p.Thr1393=) c.2554C>A c.4275C>A (p.Thr1425=) c.2633C>A n.762C>A c.3692C>A c.2906C>A c.2941C>A c.2923C>A c.2757C>A (p.Thr919=) c.818C>A c.2180C>A (n.2180C>A) c.2612C>A c.2117C>A (n.2117C>A) c.2569C>A n.772C>A c.2523C>A (p.Thr841=) c.4371C>A (p.Thr1457=) n.583C>A n.2707C>A n.2242C>A c.348C>A (p.Thr116=) n.2092C>A c.4278C>A (p.Thr1426=) n.4659C>A | dbSNP |
| 19 | g.11041405C= | CA2322734899 | SMARCA4 | c.4365C= (p.Thr1455=) c.4269C= (p.Thr1423=) c.4170C= (p.Thr1390=) c.436C= c.396C= (p.Thr132=) c.210C= (p.Thr70=) n.2510C= c.2763C= (p.Thr921=) c.1726C= c.4266C= (p.Thr1422=) c.2826C= (p.Thr942=) c.4179C= (p.Thr1393=) c.2554C= c.4275C= (p.Thr1425=) c.2633C= n.762C= c.3692C= c.2906C= c.2941C= c.2923C= c.2757C= (p.Thr919=) c.818C= c.2180C= (n.2180C=) c.2612C= c.2117C= (n.2117C=) c.2569C= n.772C= c.2523C= (p.Thr841=) c.4371C= (p.Thr1457=) n.583C= n.2707C= n.2242C= c.348C= (p.Thr116=) n.2092C= c.4278C= (p.Thr1426=) n.4659C= | |
| 19 | g.11041405C>G | CA505743838 | SMARCA4 | c.4365C>G (p.Thr1455=) c.4269C>G (p.Thr1423=) c.4170C>G (p.Thr1390=) c.436C>G c.396C>G (p.Thr132=) c.210C>G (p.Thr70=) n.2510C>G c.2763C>G (p.Thr921=) c.1726C>G c.4266C>G (p.Thr1422=) c.2826C>G (p.Thr942=) c.4179C>G (p.Thr1393=) c.2554C>G c.4275C>G (p.Thr1425=) c.2633C>G n.762C>G c.3692C>G c.2906C>G c.2941C>G c.2923C>G c.2757C>G (p.Thr919=) c.818C>G c.2180C>G (n.2180C>G) c.2612C>G c.2117C>G (n.2117C>G) c.2569C>G n.772C>G c.2523C>G (p.Thr841=) c.4371C>G (p.Thr1457=) n.583C>G n.2707C>G n.2242C>G c.348C>G (p.Thr116=) n.2092C>G c.4278C>G (p.Thr1426=) n.4659C>G | |
| 19 | g.11041405C>T | CA505743839 | SMARCA4 | c.4365C>T (p.Thr1455=) c.4269C>T (p.Thr1423=) c.4170C>T (p.Thr1390=) c.436C>T c.396C>T (p.Thr132=) c.210C>T (p.Thr70=) n.2510C>T c.2763C>T (p.Thr921=) c.1726C>T c.4266C>T (p.Thr1422=) c.2826C>T (p.Thr942=) c.4179C>T (p.Thr1393=) c.2554C>T c.4275C>T (p.Thr1425=) c.2633C>T n.762C>T c.3692C>T c.2906C>T c.2941C>T c.2923C>T c.2757C>T (p.Thr919=) c.818C>T c.2180C>T (n.2180C>T) c.2612C>T c.2117C>T (n.2117C>T) c.2569C>T n.772C>T c.2523C>T (p.Thr841=) c.4371C>T (p.Thr1457=) n.583C>T n.2707C>T n.2242C>T c.348C>T (p.Thr116=) n.2092C>T c.4278C>T (p.Thr1426=) n.4659C>T | ClinVar dbSNP |
| 19 | g.11041406C>A | CA404073424 | SMARCA4 | c.4366C>A (p.Pro1456Thr) c.4270C>A (p.Pro1424Thr) c.4171C>A (p.Pro1391Thr) c.437C>A c.397C>A (p.Pro133Thr) c.211C>A (p.Pro71Thr) n.2511C>A c.2764C>A (p.Pro922Thr) c.1727C>A c.4267C>A (p.Pro1423Thr) c.2827C>A (p.Pro943Thr) c.4180C>A (p.Pro1394Thr) c.2555C>A c.4276C>A (p.Pro1426Thr) c.2634C>A n.763C>A c.3693C>A c.2907C>A c.2942C>A c.2924C>A c.2758C>A (p.Pro920Thr) c.819C>A c.2181C>A (n.2181C>A) c.2613C>A c.2118C>A (n.2118C>A) c.2570C>A n.773C>A c.2524C>A (p.Pro842Thr) c.4372C>A (p.Pro1458Thr) n.584C>A n.2708C>A n.2243C>A c.349C>A (p.Pro117Thr) n.2093C>A c.4279C>A (p.Pro1427Thr) n.4660C>A | |
| 19 | g.11041406C= | CA2322734905 | SMARCA4 | c.4366C= (p.Pro1456=) c.4270C= (p.Pro1424=) c.4171C= (p.Pro1391=) c.437C= c.397C= (p.Pro133=) c.211C= (p.Pro71=) n.2511C= c.2764C= (p.Pro922=) c.1727C= c.4267C= (p.Pro1423=) c.2827C= (p.Pro943=) c.4180C= (p.Pro1394=) c.2555C= c.4276C= (p.Pro1426=) c.2634C= n.763C= c.3693C= c.2907C= c.2942C= c.2924C= c.2758C= (p.Pro920=) c.819C= c.2181C= (n.2181C=) c.2613C= c.2118C= (n.2118C=) c.2570C= n.773C= c.2524C= (p.Pro842=) c.4372C= (p.Pro1458=) n.584C= n.2708C= n.2243C= c.349C= (p.Pro117=) n.2093C= c.4279C= (p.Pro1427=) n.4660C= | |
| 19 | g.11041406C>G | CA404073427 | SMARCA4 | c.4366C>G (p.Pro1456Ala) c.4270C>G (p.Pro1424Ala) c.4171C>G (p.Pro1391Ala) c.437C>G c.397C>G (p.Pro133Ala) c.211C>G (p.Pro71Ala) n.2511C>G c.2764C>G (p.Pro922Ala) c.1727C>G c.4267C>G (p.Pro1423Ala) c.2827C>G (p.Pro943Ala) c.4180C>G (p.Pro1394Ala) c.2555C>G c.4276C>G (p.Pro1426Ala) c.2634C>G n.763C>G c.3693C>G c.2907C>G c.2942C>G c.2924C>G c.2758C>G (p.Pro920Ala) c.819C>G c.2181C>G (n.2181C>G) c.2613C>G c.2118C>G (n.2118C>G) c.2570C>G n.773C>G c.2524C>G (p.Pro842Ala) c.4372C>G (p.Pro1458Ala) n.584C>G n.2708C>G n.2243C>G c.349C>G (p.Pro117Ala) n.2093C>G c.4279C>G (p.Pro1427Ala) n.4660C>G | ClinVar |
| 19 | g.11041406C>T | CA305294357 | SMARCA4 | c.4366C>T (p.Pro1456Ser) c.4270C>T (p.Pro1424Ser) c.4171C>T (p.Pro1391Ser) c.437C>T c.397C>T (p.Pro133Ser) c.211C>T (p.Pro71Ser) n.2511C>T c.2764C>T (p.Pro922Ser) c.1727C>T c.4267C>T (p.Pro1423Ser) c.2827C>T (p.Pro943Ser) c.4180C>T (p.Pro1394Ser) c.2555C>T c.4276C>T (p.Pro1426Ser) c.2634C>T n.763C>T c.3693C>T c.2907C>T c.2942C>T c.2924C>T c.2758C>T (p.Pro920Ser) c.819C>T c.2181C>T (n.2181C>T) c.2613C>T c.2118C>T (n.2118C>T) c.2570C>T n.773C>T c.2524C>T (p.Pro842Ser) c.4372C>T (p.Pro1458Ser) n.584C>T n.2708C>T n.2243C>T c.349C>T (p.Pro117Ser) n.2093C>T c.4279C>T (p.Pro1427Ser) n.4660C>T | dbSNP COSMIC COSMIC |
| 19 | g.11041407C>A | CA404073434 | SMARCA4 | c.4367C>A (p.Pro1456Gln) c.4271C>A (p.Pro1424Gln) c.4172C>A (p.Pro1391Gln) c.438C>A c.398C>A (p.Pro133Gln) c.212C>A (p.Pro71Gln) n.2512C>A c.2765C>A (p.Pro922Gln) c.1728C>A c.4268C>A (p.Pro1423Gln) c.2828C>A (p.Pro943Gln) c.4181C>A (p.Pro1394Gln) c.2556C>A c.4277C>A (p.Pro1426Gln) c.2635C>A n.764C>A c.3694C>A c.2908C>A c.2943C>A c.2925C>A c.2759C>A (p.Pro920Gln) c.820C>A c.2182C>A (n.2182C>A) c.2614C>A c.2119C>A (n.2119C>A) c.2571C>A n.774C>A c.2525C>A (p.Pro842Gln) c.4373C>A (p.Pro1458Gln) n.585C>A n.2709C>A n.2244C>A c.350C>A (p.Pro117Gln) n.2094C>A c.4280C>A (p.Pro1427Gln) n.4661C>A | ClinVar dbSNP |
| 19 | g.11041407C= | CA2322734912 | SMARCA4 | c.4367C= (p.Pro1456=) c.4271C= (p.Pro1424=) c.4172C= (p.Pro1391=) c.438C= c.398C= (p.Pro133=) c.212C= (p.Pro71=) n.2512C= c.2765C= (p.Pro922=) c.1728C= c.4268C= (p.Pro1423=) c.2828C= (p.Pro943=) c.4181C= (p.Pro1394=) c.2556C= c.4277C= (p.Pro1426=) c.2635C= n.764C= c.3694C= c.2908C= c.2943C= c.2925C= c.2759C= (p.Pro920=) c.820C= c.2182C= (n.2182C=) c.2614C= c.2119C= (n.2119C=) c.2571C= n.774C= c.2525C= (p.Pro842=) c.4373C= (p.Pro1458=) n.585C= n.2709C= n.2244C= c.350C= (p.Pro117=) n.2094C= c.4280C= (p.Pro1427=) n.4661C= | |
| 19 | g.11041407C>G | CA9204689 | SMARCA4 | c.4367C>G (p.Pro1456Arg) c.4271C>G (p.Pro1424Arg) c.4172C>G (p.Pro1391Arg) c.438C>G c.398C>G (p.Pro133Arg) c.212C>G (p.Pro71Arg) n.2512C>G c.2765C>G (p.Pro922Arg) c.1728C>G c.4268C>G (p.Pro1423Arg) c.2828C>G (p.Pro943Arg) c.4181C>G (p.Pro1394Arg) c.2556C>G c.4277C>G (p.Pro1426Arg) c.2635C>G n.764C>G c.3694C>G c.2908C>G c.2943C>G c.2925C>G c.2759C>G (p.Pro920Arg) c.820C>G c.2182C>G (n.2182C>G) c.2614C>G c.2119C>G (n.2119C>G) c.2571C>G n.774C>G c.2525C>G (p.Pro842Arg) c.4373C>G (p.Pro1458Arg) n.585C>G n.2709C>G n.2244C>G c.350C>G (p.Pro117Arg) n.2094C>G c.4280C>G (p.Pro1427Arg) n.4661C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11041407C>T | CA9204690 | SMARCA4 | c.4367C>T (p.Pro1456Leu) c.4271C>T (p.Pro1424Leu) c.4172C>T (p.Pro1391Leu) c.438C>T c.398C>T (p.Pro133Leu) c.212C>T (p.Pro71Leu) n.2512C>T c.2765C>T (p.Pro922Leu) c.1728C>T c.4268C>T (p.Pro1423Leu) c.2828C>T (p.Pro943Leu) c.4181C>T (p.Pro1394Leu) c.2556C>T c.4277C>T (p.Pro1426Leu) c.2635C>T n.764C>T c.3694C>T c.2908C>T c.2943C>T c.2925C>T c.2759C>T (p.Pro920Leu) c.820C>T c.2182C>T (n.2182C>T) c.2614C>T c.2119C>T (n.2119C>T) c.2571C>T n.774C>T c.2525C>T (p.Pro842Leu) c.4373C>T (p.Pro1458Leu) n.585C>T n.2709C>T n.2244C>T c.350C>T (p.Pro117Leu) n.2094C>T c.4280C>T (p.Pro1427Leu) n.4661C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.11041408G>A | CA350591 | SMARCA4 | c.4368G>A (p.Pro1456=) c.4272G>A (p.Pro1424=) c.4173G>A (p.Pro1391=) c.439G>A c.399G>A (p.Pro133=) c.213G>A (p.Pro71=) n.2513G>A c.2766G>A (p.Pro922=) c.1729G>A c.4269G>A (p.Pro1423=) c.2829G>A (p.Pro943=) c.4182G>A (p.Pro1394=) c.2557G>A c.4278G>A (p.Pro1426=) c.2636G>A n.765G>A c.3695G>A c.2909G>A c.2944G>A c.2926G>A c.2760G>A (p.Pro920=) c.821G>A c.2183G>A (n.2183G>A) c.2615G>A c.2120G>A (n.2120G>A) c.2572G>A n.775G>A c.2526G>A (p.Pro842=) c.4374G>A (p.Pro1458=) n.586G>A n.2710G>A n.2245G>A c.351G>A (p.Pro117=) n.2095G>A c.4281G>A (p.Pro1427=) n.4662G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11041408G>C | CA505743841 | SMARCA4 | c.4368G>C (p.Pro1456=) c.4272G>C (p.Pro1424=) c.4173G>C (p.Pro1391=) c.439G>C c.399G>C (p.Pro133=) c.213G>C (p.Pro71=) n.2513G>C c.2766G>C (p.Pro922=) c.1729G>C c.4269G>C (p.Pro1423=) c.2829G>C (p.Pro943=) c.4182G>C (p.Pro1394=) c.2557G>C c.4278G>C (p.Pro1426=) c.2636G>C n.765G>C c.3695G>C c.2909G>C c.2944G>C c.2926G>C c.2760G>C (p.Pro920=) c.821G>C c.2183G>C (n.2183G>C) c.2615G>C c.2120G>C (n.2120G>C) c.2572G>C n.775G>C c.2526G>C (p.Pro842=) c.4374G>C (p.Pro1458=) n.586G>C n.2710G>C n.2245G>C c.351G>C (p.Pro117=) n.2095G>C c.4281G>C (p.Pro1427=) n.4662G>C | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.11041408G= | CA2322734918 | SMARCA4 | c.4368G= (p.Pro1456=) c.4272G= (p.Pro1424=) c.4173G= (p.Pro1391=) c.439G= c.399G= (p.Pro133=) c.213G= (p.Pro71=) n.2513G= c.2766G= (p.Pro922=) c.1729G= c.4269G= (p.Pro1423=) c.2829G= (p.Pro943=) c.4182G= (p.Pro1394=) c.2557G= c.4278G= (p.Pro1426=) c.2636G= n.765G= c.3695G= c.2909G= c.2944G= c.2926G= c.2760G= (p.Pro920=) c.821G= c.2183G= (n.2183G=) c.2615G= c.2120G= (n.2120G=) c.2572G= n.775G= c.2526G= (p.Pro842=) c.4374G= (p.Pro1458=) n.586G= n.2710G= n.2245G= c.351G= (p.Pro117=) n.2095G= c.4281G= (p.Pro1427=) n.4662G= | |
| 19 | g.11041408G>T | CA505743840 | SMARCA4 | c.4368G>T (p.Pro1456=) c.4272G>T (p.Pro1424=) c.4173G>T (p.Pro1391=) c.439G>T c.399G>T (p.Pro133=) c.213G>T (p.Pro71=) n.2513G>T c.2766G>T (p.Pro922=) c.1729G>T c.4269G>T (p.Pro1423=) c.2829G>T (p.Pro943=) c.4182G>T (p.Pro1394=) c.2557G>T c.4278G>T (p.Pro1426=) c.2636G>T n.765G>T c.3695G>T c.2909G>T c.2944G>T c.2926G>T c.2760G>T (p.Pro920=) c.821G>T c.2183G>T (n.2183G>T) c.2615G>T c.2120G>T (n.2120G>T) c.2572G>T n.775G>T c.2526G>T (p.Pro842=) c.4374G>T (p.Pro1458=) n.586G>T n.2710G>T n.2245G>T c.351G>T (p.Pro117=) n.2095G>T c.4281G>T (p.Pro1427=) n.4662G>T | ClinVar |
| 19 | g.11041409A= | CA2322734925 | SMARCA4 | c.4369A= (p.Thr1457=) c.4273A= (p.Thr1425=) c.4174A= (p.Thr1392=) c.440A= c.400A= (p.Thr134=) c.214A= (p.Thr72=) n.2514A= c.2767A= (p.Thr923=) c.1730A= c.4270A= (p.Thr1424=) c.2830A= (p.Thr944=) c.4183A= (p.Thr1395=) c.2558A= c.4279A= (p.Thr1427=) c.2637A= n.766A= c.3696A= c.2910A= c.2945A= c.2927A= c.2761A= (p.Thr921=) c.822A= c.2184A= (n.2184A=) c.2616A= c.2121A= (n.2121A=) c.2573A= n.776A= c.2527A= (p.Thr843=) c.4375A= (p.Thr1459=) n.587A= n.2711A= n.2246A= c.352A= (p.Thr118=) n.2096A= c.4282A= (p.Thr1428=) n.4663A= | |
| 19 | g.11041409A>C | CA404073459 | SMARCA4 | c.4369A>C (p.Thr1457Pro) c.4273A>C (p.Thr1425Pro) c.4174A>C (p.Thr1392Pro) c.440A>C c.400A>C (p.Thr134Pro) c.214A>C (p.Thr72Pro) n.2514A>C c.2767A>C (p.Thr923Pro) c.1730A>C c.4270A>C (p.Thr1424Pro) c.2830A>C (p.Thr944Pro) c.4183A>C (p.Thr1395Pro) c.2558A>C c.4279A>C (p.Thr1427Pro) c.2637A>C n.766A>C c.3696A>C c.2910A>C c.2945A>C c.2927A>C c.2761A>C (p.Thr921Pro) c.822A>C c.2184A>C (n.2184A>C) c.2616A>C c.2121A>C (n.2121A>C) c.2573A>C n.776A>C c.2527A>C (p.Thr843Pro) c.4375A>C (p.Thr1459Pro) n.587A>C n.2711A>C n.2246A>C c.352A>C (p.Thr118Pro) n.2096A>C c.4282A>C (p.Thr1428Pro) n.4663A>C | |
| 19 | g.11041409A>G | CA404073468 | SMARCA4 | c.4369A>G (p.Thr1457Ala) c.4273A>G (p.Thr1425Ala) c.4174A>G (p.Thr1392Ala) c.440A>G c.400A>G (p.Thr134Ala) c.214A>G (p.Thr72Ala) n.2514A>G c.2767A>G (p.Thr923Ala) c.1730A>G c.4270A>G (p.Thr1424Ala) c.2830A>G (p.Thr944Ala) c.4183A>G (p.Thr1395Ala) c.2558A>G c.4279A>G (p.Thr1427Ala) c.2637A>G n.766A>G c.3696A>G c.2910A>G c.2945A>G c.2927A>G c.2761A>G (p.Thr921Ala) c.822A>G c.2184A>G (n.2184A>G) c.2616A>G c.2121A>G (n.2121A>G) c.2573A>G n.776A>G c.2527A>G (p.Thr843Ala) c.4375A>G (p.Thr1459Ala) n.587A>G n.2711A>G n.2246A>G c.352A>G (p.Thr118Ala) n.2096A>G c.4282A>G (p.Thr1428Ala) n.4663A>G | |
| 19 | g.11041409A>T | CA16616183 | SMARCA4 | c.4369A>T (p.Thr1457Ser) c.4273A>T (p.Thr1425Ser) c.4174A>T (p.Thr1392Ser) c.440A>T c.400A>T (p.Thr134Ser) c.214A>T (p.Thr72Ser) n.2514A>T c.2767A>T (p.Thr923Ser) c.1730A>T c.4270A>T (p.Thr1424Ser) c.2830A>T (p.Thr944Ser) c.4183A>T (p.Thr1395Ser) c.2558A>T c.4279A>T (p.Thr1427Ser) c.2637A>T n.766A>T c.3696A>T c.2910A>T c.2945A>T c.2927A>T c.2761A>T (p.Thr921Ser) c.822A>T c.2184A>T (n.2184A>T) c.2616A>T c.2121A>T (n.2121A>T) c.2573A>T n.776A>T c.2527A>T (p.Thr843Ser) c.4375A>T (p.Thr1459Ser) n.587A>T n.2711A>T n.2246A>T c.352A>T (p.Thr118Ser) n.2096A>T c.4282A>T (p.Thr1428Ser) n.4663A>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11041413_11041415del | CA2697556284 | SMARCA4 | c.4373_4375del (p.Thr1458del) c.4277_4279del (p.Thr1426del) c.4178_4180del (p.Thr1393del) c.444_446del c.404_406del (p.Thr135del) c.218_220del (p.Thr73del) n.2518_2520del c.2771_2773del (p.Thr924del) c.1734_1736del c.4274_4276del (p.Thr1425del) c.2834_2836del (p.Thr945del) c.4187_4189del (p.Thr1396del) c.2562_2564del c.4283_4285del (p.Thr1428del) c.2641_2643del n.770_772del c.3700_3702del c.2914_2916del c.2949_2951del c.2931_2933del c.2765_2767del (p.Thr922del) c.826_828del c.2188_2190del (n.2188_2190del) c.2620_2622del c.2125_2127del (n.2125_2127del) c.2577_2579del n.780_782del c.2531_2533del (p.Thr844del) c.4379_4381del (p.Thr1460del) n.591_593del n.2715_2717del n.2250_2252del c.356_358del (p.Thr119del) n.2100_2102del c.4286_4288del (p.Thr1429del) n.4667_4669del | ClinVar |
| 19 | g.11041410C>A | CA404073480 | SMARCA4 | c.4370C>A (p.Thr1457Asn) c.4274C>A (p.Thr1425Asn) c.4175C>A (p.Thr1392Asn) c.441C>A c.401C>A (p.Thr134Asn) c.215C>A (p.Thr72Asn) n.2515C>A c.2768C>A (p.Thr923Asn) c.1731C>A c.4271C>A (p.Thr1424Asn) c.2831C>A (p.Thr944Asn) c.4184C>A (p.Thr1395Asn) c.2559C>A c.4280C>A (p.Thr1427Asn) c.2638C>A n.767C>A c.3697C>A c.2911C>A c.2946C>A c.2928C>A c.2762C>A (p.Thr921Asn) c.823C>A c.2185C>A (n.2185C>A) c.2617C>A c.2122C>A (n.2122C>A) c.2574C>A n.777C>A c.2528C>A (p.Thr843Asn) c.4376C>A (p.Thr1459Asn) n.588C>A n.2712C>A n.2247C>A c.353C>A (p.Thr118Asn) n.2097C>A c.4283C>A (p.Thr1428Asn) n.4664C>A | ClinVar |
| 19 | g.11041410C= | CA2322734929 | SMARCA4 | c.4370C= (p.Thr1457=) c.4274C= (p.Thr1425=) c.4175C= (p.Thr1392=) c.441C= c.401C= (p.Thr134=) c.215C= (p.Thr72=) n.2515C= c.2768C= (p.Thr923=) c.1731C= c.4271C= (p.Thr1424=) c.2831C= (p.Thr944=) c.4184C= (p.Thr1395=) c.2559C= c.4280C= (p.Thr1427=) c.2638C= n.767C= c.3697C= c.2911C= c.2946C= c.2928C= c.2762C= (p.Thr921=) c.823C= c.2185C= (n.2185C=) c.2617C= c.2122C= (n.2122C=) c.2574C= n.777C= c.2528C= (p.Thr843=) c.4376C= (p.Thr1459=) n.588C= n.2712C= n.2247C= c.353C= (p.Thr118=) n.2097C= c.4283C= (p.Thr1428=) n.4664C= | |
| 19 | g.11041410C>G | CA404073483 | SMARCA4 | c.4370C>G (p.Thr1457Ser) c.4274C>G (p.Thr1425Ser) c.4175C>G (p.Thr1392Ser) c.441C>G c.401C>G (p.Thr134Ser) c.215C>G (p.Thr72Ser) n.2515C>G c.2768C>G (p.Thr923Ser) c.1731C>G c.4271C>G (p.Thr1424Ser) c.2831C>G (p.Thr944Ser) c.4184C>G (p.Thr1395Ser) c.2559C>G c.4280C>G (p.Thr1427Ser) c.2638C>G n.767C>G c.3697C>G c.2911C>G c.2946C>G c.2928C>G c.2762C>G (p.Thr921Ser) c.823C>G c.2185C>G (n.2185C>G) c.2617C>G c.2122C>G (n.2122C>G) c.2574C>G n.777C>G c.2528C>G (p.Thr843Ser) c.4376C>G (p.Thr1459Ser) n.588C>G n.2712C>G n.2247C>G c.353C>G (p.Thr118Ser) n.2097C>G c.4283C>G (p.Thr1428Ser) n.4664C>G | gnomAD v4 |
| 19 | g.11041410C>T | CA404073475 | SMARCA4 | c.4370C>T (p.Thr1457Ile) c.4274C>T (p.Thr1425Ile) c.4175C>T (p.Thr1392Ile) c.441C>T c.401C>T (p.Thr134Ile) c.215C>T (p.Thr72Ile) n.2515C>T c.2768C>T (p.Thr923Ile) c.1731C>T c.4271C>T (p.Thr1424Ile) c.2831C>T (p.Thr944Ile) c.4184C>T (p.Thr1395Ile) c.2559C>T c.4280C>T (p.Thr1427Ile) c.2638C>T n.767C>T c.3697C>T c.2911C>T c.2946C>T c.2928C>T c.2762C>T (p.Thr921Ile) c.823C>T c.2185C>T (n.2185C>T) c.2617C>T c.2122C>T (n.2122C>T) c.2574C>T n.777C>T c.2528C>T (p.Thr843Ile) c.4376C>T (p.Thr1459Ile) n.588C>T n.2712C>T n.2247C>T c.353C>T (p.Thr118Ile) n.2097C>T c.4283C>T (p.Thr1428Ile) n.4664C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.11041411C>A | CA505743842 | SMARCA4 | c.4371C>A (p.Thr1457=) c.4275C>A (p.Thr1425=) c.4176C>A (p.Thr1392=) c.442C>A c.402C>A (p.Thr134=) c.216C>A (p.Thr72=) n.2516C>A c.2769C>A (p.Thr923=) c.1732C>A c.4272C>A (p.Thr1424=) c.2832C>A (p.Thr944=) c.4185C>A (p.Thr1395=) c.2560C>A c.4281C>A (p.Thr1427=) c.2639C>A n.768C>A c.3698C>A c.2912C>A c.2947C>A c.2929C>A c.2763C>A (p.Thr921=) c.824C>A c.2186C>A (n.2186C>A) c.2618C>A c.2123C>A (n.2123C>A) c.2575C>A n.778C>A c.2529C>A (p.Thr843=) c.4377C>A (p.Thr1459=) n.589C>A n.2713C>A n.2248C>A c.354C>A (p.Thr118=) n.2098C>A c.4284C>A (p.Thr1428=) n.4665C>A | ClinVar dbSNP |
| 19 | g.11041411C= | CA2322734932 | SMARCA4 | c.4371C= (p.Thr1457=) c.4275C= (p.Thr1425=) c.4176C= (p.Thr1392=) c.442C= c.402C= (p.Thr134=) c.216C= (p.Thr72=) n.2516C= c.2769C= (p.Thr923=) c.1732C= c.4272C= (p.Thr1424=) c.2832C= (p.Thr944=) c.4185C= (p.Thr1395=) c.2560C= c.4281C= (p.Thr1427=) c.2639C= n.768C= c.3698C= c.2912C= c.2947C= c.2929C= c.2763C= (p.Thr921=) c.824C= c.2186C= (n.2186C=) c.2618C= c.2123C= (n.2123C=) c.2575C= n.778C= c.2529C= (p.Thr843=) c.4377C= (p.Thr1459=) n.589C= n.2713C= n.2248C= c.354C= (p.Thr118=) n.2098C= c.4284C= (p.Thr1428=) n.4665C= | |
| 19 | g.11041411C>G | CA505743843 | SMARCA4 | c.4371C>G (p.Thr1457=) c.4275C>G (p.Thr1425=) c.4176C>G (p.Thr1392=) c.442C>G c.402C>G (p.Thr134=) c.216C>G (p.Thr72=) n.2516C>G c.2769C>G (p.Thr923=) c.1732C>G c.4272C>G (p.Thr1424=) c.2832C>G (p.Thr944=) c.4185C>G (p.Thr1395=) c.2560C>G c.4281C>G (p.Thr1427=) c.2639C>G n.768C>G c.3698C>G c.2912C>G c.2947C>G c.2929C>G c.2763C>G (p.Thr921=) c.824C>G c.2186C>G (n.2186C>G) c.2618C>G c.2123C>G (n.2123C>G) c.2575C>G n.778C>G c.2529C>G (p.Thr843=) c.4377C>G (p.Thr1459=) n.589C>G n.2713C>G n.2248C>G c.354C>G (p.Thr118=) n.2098C>G c.4284C>G (p.Thr1428=) n.4665C>G | |
| 19 | g.11041411C>T | CA505743844 | SMARCA4 | c.4371C>T (p.Thr1457=) c.4275C>T (p.Thr1425=) c.4176C>T (p.Thr1392=) c.442C>T c.402C>T (p.Thr134=) c.216C>T (p.Thr72=) n.2516C>T c.2769C>T (p.Thr923=) c.1732C>T c.4272C>T (p.Thr1424=) c.2832C>T (p.Thr944=) c.4185C>T (p.Thr1395=) c.2560C>T c.4281C>T (p.Thr1427=) c.2639C>T n.768C>T c.3698C>T c.2912C>T c.2947C>T c.2929C>T c.2763C>T (p.Thr921=) c.824C>T c.2186C>T (n.2186C>T) c.2618C>T c.2123C>T (n.2123C>T) c.2575C>T n.778C>T c.2529C>T (p.Thr843=) c.4377C>T (p.Thr1459=) n.589C>T n.2713C>T n.2248C>T c.354C>T (p.Thr118=) n.2098C>T c.4284C>T (p.Thr1428=) n.4665C>T | ClinVar dbSNP |
| 19 | g.11041415_11041420dup | CA2499225301 | SMARCA4 | c.4375_4380dup (p.Thr1460_Arg1461insSerThr) c.4279_4284dup (p.Thr1428_Arg1429insSerThr) c.4180_4185dup (p.Thr1395_Arg1396insSerThr) c.446_451dup c.406_411dup (p.Thr137_Arg138insSerThr) c.220_225dup (p.Thr75_Arg76insSerThr) n.2520_2525dup c.2773_2778dup (p.Thr926_Arg927insSerThr) c.1736_1741dup c.4276_4281dup (p.Thr1427_Arg1428insSerThr) c.2836_2841dup (p.Thr947_Arg948insSerThr) c.4189_4194dup (p.Thr1398_Arg1399insSerThr) c.2564_2569dup c.4285_4290dup (p.Thr1430_Arg1431insSerThr) c.2643_2648dup n.772_777dup c.3702_3707dup c.2916_2921dup c.2951_2956dup c.2933_2938dup c.2767_2772dup (p.Thr924_Arg925insSerThr) c.828_833dup c.2190_2195dup (n.2190_2195dup) c.2622_2627dup c.2127_2132dup (n.2127_2132dup) c.2579_2584dup n.782_787dup c.2533_2538dup (p.Thr846_Arg847insSerThr) c.4381_4386dup (p.Thr1462_Arg1463insSerThr) n.593_598dup n.2717_2722dup n.2252_2257dup c.358_363dup (p.Thr121_Arg122insSerThr) n.2102_2107dup c.4288_4293dup (p.Thr1431_Arg1432insSerThr) n.4669_4674dup | ClinVar dbSNP gnomAD v4 |
| 19 | g.11041412A= | CA2322734935 | SMARCA4 | c.4372A= (p.Thr1458=) c.4276A= (p.Thr1426=) c.4177A= (p.Thr1393=) c.443A= c.403A= (p.Thr135=) c.217A= (p.Thr73=) n.2517A= c.2770A= (p.Thr924=) c.1733A= c.4273A= (p.Thr1425=) c.2833A= (p.Thr945=) c.4186A= (p.Thr1396=) c.2561A= c.4282A= (p.Thr1428=) c.2640A= n.769A= c.3699A= c.2913A= c.2948A= c.2930A= c.2764A= (p.Thr922=) c.825A= c.2187A= (n.2187A=) c.2619A= c.2124A= (n.2124A=) c.2576A= n.779A= c.2530A= (p.Thr844=) c.4378A= (p.Thr1460=) n.590A= n.2714A= n.2249A= c.355A= (p.Thr119=) n.2099A= c.4285A= (p.Thr1429=) n.4666A= | |
| 19 | g.11041412A>C | CA404073494 | SMARCA4 | c.4372A>C (p.Thr1458Pro) c.4276A>C (p.Thr1426Pro) c.4177A>C (p.Thr1393Pro) c.443A>C c.403A>C (p.Thr135Pro) c.217A>C (p.Thr73Pro) n.2517A>C c.2770A>C (p.Thr924Pro) c.1733A>C c.4273A>C (p.Thr1425Pro) c.2833A>C (p.Thr945Pro) c.4186A>C (p.Thr1396Pro) c.2561A>C c.4282A>C (p.Thr1428Pro) c.2640A>C n.769A>C c.3699A>C c.2913A>C c.2948A>C c.2930A>C c.2764A>C (p.Thr922Pro) c.825A>C c.2187A>C (n.2187A>C) c.2619A>C c.2124A>C (n.2124A>C) c.2576A>C n.779A>C c.2530A>C (p.Thr844Pro) c.4378A>C (p.Thr1460Pro) n.590A>C n.2714A>C n.2249A>C c.355A>C (p.Thr119Pro) n.2099A>C c.4285A>C (p.Thr1429Pro) n.4666A>C | dbSNP |
| 19 | g.11041412A>G | CA404073499 | SMARCA4 | c.4372A>G (p.Thr1458Ala) c.4276A>G (p.Thr1426Ala) c.4177A>G (p.Thr1393Ala) c.443A>G c.403A>G (p.Thr135Ala) c.217A>G (p.Thr73Ala) n.2517A>G c.2770A>G (p.Thr924Ala) c.1733A>G c.4273A>G (p.Thr1425Ala) c.2833A>G (p.Thr945Ala) c.4186A>G (p.Thr1396Ala) c.2561A>G c.4282A>G (p.Thr1428Ala) c.2640A>G n.769A>G c.3699A>G c.2913A>G c.2948A>G c.2930A>G c.2764A>G (p.Thr922Ala) c.825A>G c.2187A>G (n.2187A>G) c.2619A>G c.2124A>G (n.2124A>G) c.2576A>G n.779A>G c.2530A>G (p.Thr844Ala) c.4378A>G (p.Thr1460Ala) n.590A>G n.2714A>G n.2249A>G c.355A>G (p.Thr119Ala) n.2099A>G c.4285A>G (p.Thr1429Ala) n.4666A>G | ClinVar dbSNP |
| 19 | g.11041412A>T | CA404073501 | SMARCA4 | c.4372A>T (p.Thr1458Ser) c.4276A>T (p.Thr1426Ser) c.4177A>T (p.Thr1393Ser) c.443A>T c.403A>T (p.Thr135Ser) c.217A>T (p.Thr73Ser) n.2517A>T c.2770A>T (p.Thr924Ser) c.1733A>T c.4273A>T (p.Thr1425Ser) c.2833A>T (p.Thr945Ser) c.4186A>T (p.Thr1396Ser) c.2561A>T c.4282A>T (p.Thr1428Ser) c.2640A>T n.769A>T c.3699A>T c.2913A>T c.2948A>T c.2930A>T c.2764A>T (p.Thr922Ser) c.825A>T c.2187A>T (n.2187A>T) c.2619A>T c.2124A>T (n.2124A>T) c.2576A>T n.779A>T c.2530A>T (p.Thr844Ser) c.4378A>T (p.Thr1460Ser) n.590A>T n.2714A>T n.2249A>T c.355A>T (p.Thr119Ser) n.2099A>T c.4285A>T (p.Thr1429Ser) n.4666A>T | dbSNP |
| 19 | g.11041413C>A | CA404073505 | SMARCA4 | c.4373C>A (p.Thr1458Asn) c.4277C>A (p.Thr1426Asn) c.4178C>A (p.Thr1393Asn) c.444C>A c.404C>A (p.Thr135Asn) c.218C>A (p.Thr73Asn) n.2518C>A c.2771C>A (p.Thr924Asn) c.1734C>A c.4274C>A (p.Thr1425Asn) c.2834C>A (p.Thr945Asn) c.4187C>A (p.Thr1396Asn) c.2562C>A c.4283C>A (p.Thr1428Asn) c.2641C>A n.770C>A c.3700C>A c.2914C>A c.2949C>A c.2931C>A c.2765C>A (p.Thr922Asn) c.826C>A c.2188C>A (n.2188C>A) c.2620C>A c.2125C>A (n.2125C>A) c.2577C>A n.780C>A c.2531C>A (p.Thr844Asn) c.4379C>A (p.Thr1460Asn) n.591C>A n.2715C>A n.2250C>A c.356C>A (p.Thr119Asn) n.2100C>A c.4286C>A (p.Thr1429Asn) n.4667C>A | ClinVar |
| 19 | g.11041413C= | CA2322734937 | SMARCA4 | c.4373C= (p.Thr1458=) c.4277C= (p.Thr1426=) c.4178C= (p.Thr1393=) c.444C= c.404C= (p.Thr135=) c.218C= (p.Thr73=) n.2518C= c.2771C= (p.Thr924=) c.1734C= c.4274C= (p.Thr1425=) c.2834C= (p.Thr945=) c.4187C= (p.Thr1396=) c.2562C= c.4283C= (p.Thr1428=) c.2641C= n.770C= c.3700C= c.2914C= c.2949C= c.2931C= c.2765C= (p.Thr922=) c.826C= c.2188C= (n.2188C=) c.2620C= c.2125C= (n.2125C=) c.2577C= n.780C= c.2531C= (p.Thr844=) c.4379C= (p.Thr1460=) n.591C= n.2715C= n.2250C= c.356C= (p.Thr119=) n.2100C= c.4286C= (p.Thr1429=) n.4667C= | |
| 19 | g.11041413C>G | CA404073508 | SMARCA4 | c.4373C>G (p.Thr1458Ser) c.4277C>G (p.Thr1426Ser) c.4178C>G (p.Thr1393Ser) c.444C>G c.404C>G (p.Thr135Ser) c.218C>G (p.Thr73Ser) n.2518C>G c.2771C>G (p.Thr924Ser) c.1734C>G c.4274C>G (p.Thr1425Ser) c.2834C>G (p.Thr945Ser) c.4187C>G (p.Thr1396Ser) c.2562C>G c.4283C>G (p.Thr1428Ser) c.2641C>G n.770C>G c.3700C>G c.2914C>G c.2949C>G c.2931C>G c.2765C>G (p.Thr922Ser) c.826C>G c.2188C>G (n.2188C>G) c.2620C>G c.2125C>G (n.2125C>G) c.2577C>G n.780C>G c.2531C>G (p.Thr844Ser) c.4379C>G (p.Thr1460Ser) n.591C>G n.2715C>G n.2250C>G c.356C>G (p.Thr119Ser) n.2100C>G c.4286C>G (p.Thr1429Ser) n.4667C>G | dbSNP |
| 19 | g.11041413C>T | CA404073512 | SMARCA4 | c.4373C>T (p.Thr1458Ile) c.4277C>T (p.Thr1426Ile) c.4178C>T (p.Thr1393Ile) c.444C>T c.404C>T (p.Thr135Ile) c.218C>T (p.Thr73Ile) n.2518C>T c.2771C>T (p.Thr924Ile) c.1734C>T c.4274C>T (p.Thr1425Ile) c.2834C>T (p.Thr945Ile) c.4187C>T (p.Thr1396Ile) c.2562C>T c.4283C>T (p.Thr1428Ile) c.2641C>T n.770C>T c.3700C>T c.2914C>T c.2949C>T c.2931C>T c.2765C>T (p.Thr922Ile) c.826C>T c.2188C>T (n.2188C>T) c.2620C>T c.2125C>T (n.2125C>T) c.2577C>T n.780C>T c.2531C>T (p.Thr844Ile) c.4379C>T (p.Thr1460Ile) n.591C>T n.2715C>T n.2250C>T c.356C>T (p.Thr119Ile) n.2100C>T c.4286C>T (p.Thr1429Ile) n.4667C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.11041414C>A | CA505743845 | SMARCA4 | c.4374C>A (p.Thr1458=) c.4278C>A (p.Thr1426=) c.4179C>A (p.Thr1393=) c.445C>A c.405C>A (p.Thr135=) c.219C>A (p.Thr73=) n.2519C>A c.2772C>A (p.Thr924=) c.1735C>A c.4275C>A (p.Thr1425=) c.2835C>A (p.Thr945=) c.4188C>A (p.Thr1396=) c.2563C>A c.4284C>A (p.Thr1428=) c.2642C>A n.771C>A c.3701C>A c.2915C>A c.2950C>A c.2932C>A c.2766C>A (p.Thr922=) c.827C>A c.2189C>A (n.2189C>A) c.2621C>A c.2126C>A (n.2126C>A) c.2578C>A n.781C>A c.2532C>A (p.Thr844=) c.4380C>A (p.Thr1460=) n.592C>A n.2716C>A n.2251C>A c.357C>A (p.Thr119=) n.2101C>A c.4287C>A (p.Thr1429=) n.4668C>A | dbSNP |
| 19 | g.11041414C>G | CA505743846 | SMARCA4 | c.4374C>G (p.Thr1458=) c.4278C>G (p.Thr1426=) c.4179C>G (p.Thr1393=) c.445C>G c.405C>G (p.Thr135=) c.219C>G (p.Thr73=) n.2519C>G c.2772C>G (p.Thr924=) c.1735C>G c.4275C>G (p.Thr1425=) c.2835C>G (p.Thr945=) c.4188C>G (p.Thr1396=) c.2563C>G c.4284C>G (p.Thr1428=) c.2642C>G n.771C>G c.3701C>G c.2915C>G c.2950C>G c.2932C>G c.2766C>G (p.Thr922=) c.827C>G c.2189C>G (n.2189C>G) c.2621C>G c.2126C>G (n.2126C>G) c.2578C>G n.781C>G c.2532C>G (p.Thr844=) c.4380C>G (p.Thr1460=) n.592C>G n.2716C>G n.2251C>G c.357C>G (p.Thr119=) n.2101C>G c.4287C>G (p.Thr1429=) n.4668C>G | dbSNP |
| 19 | g.11041414C>T | CA505743847 | SMARCA4 | c.4374C>T (p.Thr1458=) c.4278C>T (p.Thr1426=) c.4179C>T (p.Thr1393=) c.445C>T c.405C>T (p.Thr135=) c.219C>T (p.Thr73=) n.2519C>T c.2772C>T (p.Thr924=) c.1735C>T c.4275C>T (p.Thr1425=) c.2835C>T (p.Thr945=) c.4188C>T (p.Thr1396=) c.2563C>T c.4284C>T (p.Thr1428=) c.2642C>T n.771C>T c.3701C>T c.2915C>T c.2950C>T c.2932C>T c.2766C>T (p.Thr922=) c.827C>T c.2189C>T (n.2189C>T) c.2621C>T c.2126C>T (n.2126C>T) c.2578C>T n.781C>T c.2532C>T (p.Thr844=) c.4380C>T (p.Thr1460=) n.592C>T n.2716C>T n.2251C>T c.357C>T (p.Thr119=) n.2101C>T c.4287C>T (p.Thr1429=) n.4668C>T | dbSNP |
| 19 | g.11041415A>C | CA404073515 | SMARCA4 | c.4375A>C (p.Ser1459Arg) c.4279A>C (p.Ser1427Arg) c.4180A>C (p.Ser1394Arg) c.446A>C c.406A>C (p.Ser136Arg) c.220A>C (p.Ser74Arg) n.2520A>C c.2773A>C (p.Ser925Arg) c.1736A>C c.4276A>C (p.Ser1426Arg) c.2836A>C (p.Ser946Arg) c.4189A>C (p.Ser1397Arg) c.2564A>C c.4285A>C (p.Ser1429Arg) c.2643A>C n.772A>C c.3702A>C c.2916A>C c.2951A>C c.2933A>C c.2767A>C (p.Ser923Arg) c.828A>C c.2190A>C (n.2190A>C) c.2622A>C c.2127A>C (n.2127A>C) c.2579A>C n.782A>C c.2533A>C (p.Ser845Arg) c.4381A>C (p.Ser1461Arg) n.593A>C n.2717A>C n.2252A>C c.358A>C (p.Ser120Arg) n.2102A>C c.4288A>C (p.Ser1430Arg) n.4669A>C | dbSNP |
| 19 | g.11041415A>G | CA404073529 | SMARCA4 | c.4375A>G (p.Ser1459Gly) c.4279A>G (p.Ser1427Gly) c.4180A>G (p.Ser1394Gly) c.446A>G c.406A>G (p.Ser136Gly) c.220A>G (p.Ser74Gly) n.2520A>G c.2773A>G (p.Ser925Gly) c.1736A>G c.4276A>G (p.Ser1426Gly) c.2836A>G (p.Ser946Gly) c.4189A>G (p.Ser1397Gly) c.2564A>G c.4285A>G (p.Ser1429Gly) c.2643A>G n.772A>G c.3702A>G c.2916A>G c.2951A>G c.2933A>G c.2767A>G (p.Ser923Gly) c.828A>G c.2190A>G (n.2190A>G) c.2622A>G c.2127A>G (n.2127A>G) c.2579A>G n.782A>G c.2533A>G (p.Ser845Gly) c.4381A>G (p.Ser1461Gly) n.593A>G n.2717A>G n.2252A>G c.358A>G (p.Ser120Gly) n.2102A>G c.4288A>G (p.Ser1430Gly) n.4669A>G | dbSNP |
| 19 | g.11041415A>T | CA404073526 | SMARCA4 | c.4375A>T (p.Ser1459Cys) c.4279A>T (p.Ser1427Cys) c.4180A>T (p.Ser1394Cys) c.446A>T c.406A>T (p.Ser136Cys) c.220A>T (p.Ser74Cys) n.2520A>T c.2773A>T (p.Ser925Cys) c.1736A>T c.4276A>T (p.Ser1426Cys) c.2836A>T (p.Ser946Cys) c.4189A>T (p.Ser1397Cys) c.2564A>T c.4285A>T (p.Ser1429Cys) c.2643A>T n.772A>T c.3702A>T c.2916A>T c.2951A>T c.2933A>T c.2767A>T (p.Ser923Cys) c.828A>T c.2190A>T (n.2190A>T) c.2622A>T c.2127A>T (n.2127A>T) c.2579A>T n.782A>T c.2533A>T (p.Ser845Cys) c.4381A>T (p.Ser1461Cys) n.593A>T n.2717A>T n.2252A>T c.358A>T (p.Ser120Cys) n.2102A>T c.4288A>T (p.Ser1430Cys) n.4669A>T | dbSNP |
| 19 | g.11041416G>A | CA404073535 | SMARCA4 | c.4376G>A (p.Ser1459Asn) c.4280G>A (p.Ser1427Asn) c.4181G>A (p.Ser1394Asn) c.447G>A c.407G>A (p.Ser136Asn) c.221G>A (p.Ser74Asn) n.2521G>A c.2774G>A (p.Ser925Asn) c.1737G>A c.4277G>A (p.Ser1426Asn) c.2837G>A (p.Ser946Asn) c.4190G>A (p.Ser1397Asn) c.2565G>A c.4286G>A (p.Ser1429Asn) c.2644G>A n.773G>A c.3703G>A c.2917G>A c.2952G>A c.2934G>A c.2768G>A (p.Ser923Asn) c.829G>A c.2191G>A (n.2191G>A) c.2623G>A c.2128G>A (n.2128G>A) c.2580G>A n.783G>A c.2534G>A (p.Ser845Asn) c.4382G>A (p.Ser1461Asn) n.594G>A n.2718G>A n.2253G>A c.359G>A (p.Ser120Asn) n.2103G>A c.4289G>A (p.Ser1430Asn) n.4670G>A | ClinVar dbSNP |
| 19 | g.11041416G>C | CA404073538 | SMARCA4 | c.4376G>C (p.Ser1459Thr) c.4280G>C (p.Ser1427Thr) c.4181G>C (p.Ser1394Thr) c.447G>C c.407G>C (p.Ser136Thr) c.221G>C (p.Ser74Thr) n.2521G>C c.2774G>C (p.Ser925Thr) c.1737G>C c.4277G>C (p.Ser1426Thr) c.2837G>C (p.Ser946Thr) c.4190G>C (p.Ser1397Thr) c.2565G>C c.4286G>C (p.Ser1429Thr) c.2644G>C n.773G>C c.3703G>C c.2917G>C c.2952G>C c.2934G>C c.2768G>C (p.Ser923Thr) c.829G>C c.2191G>C (n.2191G>C) c.2623G>C c.2128G>C (n.2128G>C) c.2580G>C n.783G>C c.2534G>C (p.Ser845Thr) c.4382G>C (p.Ser1461Thr) n.594G>C n.2718G>C n.2253G>C c.359G>C (p.Ser120Thr) n.2103G>C c.4289G>C (p.Ser1430Thr) n.4670G>C | dbSNP |
| 19 | g.11041416G= | CA2322734944 | SMARCA4 | c.4376G= (p.Ser1459=) c.4280G= (p.Ser1427=) c.4181G= (p.Ser1394=) c.447G= c.407G= (p.Ser136=) c.221G= (p.Ser74=) n.2521G= c.2774G= (p.Ser925=) c.1737G= c.4277G= (p.Ser1426=) c.2837G= (p.Ser946=) c.4190G= (p.Ser1397=) c.2565G= c.4286G= (p.Ser1429=) c.2644G= n.773G= c.3703G= c.2917G= c.2952G= c.2934G= c.2768G= (p.Ser923=) c.829G= c.2191G= (n.2191G=) c.2623G= c.2128G= (n.2128G=) c.2580G= n.783G= c.2534G= (p.Ser845=) c.4382G= (p.Ser1461=) n.594G= n.2718G= n.2253G= c.359G= (p.Ser120=) n.2103G= c.4289G= (p.Ser1430=) n.4670G= | |
| 19 | g.11041416G>T | CA404073544 | SMARCA4 | c.4376G>T (p.Ser1459Ile) c.4280G>T (p.Ser1427Ile) c.4181G>T (p.Ser1394Ile) c.447G>T c.407G>T (p.Ser136Ile) c.221G>T (p.Ser74Ile) n.2521G>T c.2774G>T (p.Ser925Ile) c.1737G>T c.4277G>T (p.Ser1426Ile) c.2837G>T (p.Ser946Ile) c.4190G>T (p.Ser1397Ile) c.2565G>T c.4286G>T (p.Ser1429Ile) c.2644G>T n.773G>T c.3703G>T c.2917G>T c.2952G>T c.2934G>T c.2768G>T (p.Ser923Ile) c.829G>T c.2191G>T (n.2191G>T) c.2623G>T c.2128G>T (n.2128G>T) c.2580G>T n.783G>T c.2534G>T (p.Ser845Ile) c.4382G>T (p.Ser1461Ile) n.594G>T n.2718G>T n.2253G>T c.359G>T (p.Ser120Ile) n.2103G>T c.4289G>T (p.Ser1430Ile) n.4670G>T | dbSNP |
| 19 | g.11041417C>A | CA404073550 | SMARCA4 | c.4377C>A (p.Ser1459Arg) c.4281C>A (p.Ser1427Arg) c.4182C>A (p.Ser1394Arg) c.448C>A c.408C>A (p.Ser136Arg) c.222C>A (p.Ser74Arg) n.2522C>A c.2775C>A (p.Ser925Arg) c.1738C>A c.4278C>A (p.Ser1426Arg) c.2838C>A (p.Ser946Arg) c.4191C>A (p.Ser1397Arg) c.2566C>A c.4287C>A (p.Ser1429Arg) c.2645C>A n.774C>A c.3704C>A c.2918C>A c.2953C>A c.2935C>A c.2769C>A (p.Ser923Arg) c.830C>A c.2192C>A (n.2192C>A) c.2624C>A c.2129C>A (n.2129C>A) c.2581C>A n.784C>A c.2535C>A (p.Ser845Arg) c.4383C>A (p.Ser1461Arg) n.595C>A n.2719C>A n.2254C>A c.360C>A (p.Ser120Arg) n.2104C>A c.4290C>A (p.Ser1430Arg) n.4671C>A | dbSNP |
| 19 | g.11041417C= | CA2322734948 | SMARCA4 | c.4377C= (p.Ser1459=) c.4281C= (p.Ser1427=) c.4182C= (p.Ser1394=) c.448C= c.408C= (p.Ser136=) c.222C= (p.Ser74=) n.2522C= c.2775C= (p.Ser925=) c.1738C= c.4278C= (p.Ser1426=) c.2838C= (p.Ser946=) c.4191C= (p.Ser1397=) c.2566C= c.4287C= (p.Ser1429=) c.2645C= n.774C= c.3704C= c.2918C= c.2953C= c.2935C= c.2769C= (p.Ser923=) c.830C= c.2192C= (n.2192C=) c.2624C= c.2129C= (n.2129C=) c.2581C= n.784C= c.2535C= (p.Ser845=) c.4383C= (p.Ser1461=) n.595C= n.2719C= n.2254C= c.360C= (p.Ser120=) n.2104C= c.4290C= (p.Ser1430=) n.4671C= | |
| 19 | g.11041417C>G | CA404073554 | SMARCA4 | c.4377C>G (p.Ser1459Arg) c.4281C>G (p.Ser1427Arg) c.4182C>G (p.Ser1394Arg) c.448C>G c.408C>G (p.Ser136Arg) c.222C>G (p.Ser74Arg) n.2522C>G c.2775C>G (p.Ser925Arg) c.1738C>G c.4278C>G (p.Ser1426Arg) c.2838C>G (p.Ser946Arg) c.4191C>G (p.Ser1397Arg) c.2566C>G c.4287C>G (p.Ser1429Arg) c.2645C>G n.774C>G c.3704C>G c.2918C>G c.2953C>G c.2935C>G c.2769C>G (p.Ser923Arg) c.830C>G c.2192C>G (n.2192C>G) c.2624C>G c.2129C>G (n.2129C>G) c.2581C>G n.784C>G c.2535C>G (p.Ser845Arg) c.4383C>G (p.Ser1461Arg) n.595C>G n.2719C>G n.2254C>G c.360C>G (p.Ser120Arg) n.2104C>G c.4290C>G (p.Ser1430Arg) n.4671C>G | dbSNP |
| 19 | g.11041417C>T | CA505743848 | SMARCA4 | c.4377C>T (p.Ser1459=) c.4281C>T (p.Ser1427=) c.4182C>T (p.Ser1394=) c.448C>T c.408C>T (p.Ser136=) c.222C>T (p.Ser74=) n.2522C>T c.2775C>T (p.Ser925=) c.1738C>T c.4278C>T (p.Ser1426=) c.2838C>T (p.Ser946=) c.4191C>T (p.Ser1397=) c.2566C>T c.4287C>T (p.Ser1429=) c.2645C>T n.774C>T c.3704C>T c.2918C>T c.2953C>T c.2935C>T c.2769C>T (p.Ser923=) c.830C>T c.2192C>T (n.2192C>T) c.2624C>T c.2129C>T (n.2129C>T) c.2581C>T n.784C>T c.2535C>T (p.Ser845=) c.4383C>T (p.Ser1461=) n.595C>T n.2719C>T n.2254C>T c.360C>T (p.Ser120=) n.2104C>T c.4290C>T (p.Ser1430=) n.4671C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.11041418A>C | CA404073566 | SMARCA4 | c.4378A>C (p.Thr1460Pro) c.4282A>C (p.Thr1428Pro) c.4183A>C (p.Thr1395Pro) c.449A>C c.409A>C (p.Thr137Pro) c.223A>C (p.Thr75Pro) n.2523A>C c.2776A>C (p.Thr926Pro) c.1739A>C c.4279A>C (p.Thr1427Pro) c.2839A>C (p.Thr947Pro) c.4192A>C (p.Thr1398Pro) c.2567A>C c.4288A>C (p.Thr1430Pro) c.2646A>C n.775A>C c.3705A>C c.2919A>C c.2954A>C c.2936A>C c.2770A>C (p.Thr924Pro) c.831A>C c.2193A>C (n.2193A>C) c.2625A>C c.2130A>C (n.2130A>C) c.2582A>C n.785A>C c.2536A>C (p.Thr846Pro) c.4384A>C (p.Thr1462Pro) n.596A>C n.2720A>C n.2255A>C c.361A>C (p.Thr121Pro) n.2105A>C c.4291A>C (p.Thr1431Pro) n.4672A>C | dbSNP |
| 19 | g.11041418A>G | CA404073568 | SMARCA4 | c.4378A>G (p.Thr1460Ala) c.4282A>G (p.Thr1428Ala) c.4183A>G (p.Thr1395Ala) c.449A>G c.409A>G (p.Thr137Ala) c.223A>G (p.Thr75Ala) n.2523A>G c.2776A>G (p.Thr926Ala) c.1739A>G c.4279A>G (p.Thr1427Ala) c.2839A>G (p.Thr947Ala) c.4192A>G (p.Thr1398Ala) c.2567A>G c.4288A>G (p.Thr1430Ala) c.2646A>G n.775A>G c.3705A>G c.2919A>G c.2954A>G c.2936A>G c.2770A>G (p.Thr924Ala) c.831A>G c.2193A>G (n.2193A>G) c.2625A>G c.2130A>G (n.2130A>G) c.2582A>G n.785A>G c.2536A>G (p.Thr846Ala) c.4384A>G (p.Thr1462Ala) n.596A>G n.2720A>G n.2255A>G c.361A>G (p.Thr121Ala) n.2105A>G c.4291A>G (p.Thr1431Ala) n.4672A>G | dbSNP |
| 19 | g.11041418A>T | CA404073558 | SMARCA4 | c.4378A>T (p.Thr1460Ser) c.4282A>T (p.Thr1428Ser) c.4183A>T (p.Thr1395Ser) c.449A>T c.409A>T (p.Thr137Ser) c.223A>T (p.Thr75Ser) n.2523A>T c.2776A>T (p.Thr926Ser) c.1739A>T c.4279A>T (p.Thr1427Ser) c.2839A>T (p.Thr947Ser) c.4192A>T (p.Thr1398Ser) c.2567A>T c.4288A>T (p.Thr1430Ser) c.2646A>T n.775A>T c.3705A>T c.2919A>T c.2954A>T c.2936A>T c.2770A>T (p.Thr924Ser) c.831A>T c.2193A>T (n.2193A>T) c.2625A>T c.2130A>T (n.2130A>T) c.2582A>T n.785A>T c.2536A>T (p.Thr846Ser) c.4384A>T (p.Thr1462Ser) n.596A>T n.2720A>T n.2255A>T c.361A>T (p.Thr121Ser) n.2105A>T c.4291A>T (p.Thr1431Ser) n.4672A>T | dbSNP |
| 19 | g.11041419C>A | CA404073575 | SMARCA4 | c.4379C>A (p.Thr1460Asn) c.4283C>A (p.Thr1428Asn) c.4184C>A (p.Thr1395Asn) c.450C>A c.410C>A (p.Thr137Asn) c.224C>A (p.Thr75Asn) n.2524C>A c.2777C>A (p.Thr926Asn) c.1740C>A c.4280C>A (p.Thr1427Asn) c.2840C>A (p.Thr947Asn) c.4193C>A (p.Thr1398Asn) c.2568C>A c.4289C>A (p.Thr1430Asn) c.2647C>A n.776C>A c.3706C>A c.2920C>A c.2955C>A c.2937C>A c.2771C>A (p.Thr924Asn) c.832C>A c.2194C>A (n.2194C>A) c.2626C>A c.2131C>A (n.2131C>A) c.2583C>A n.786C>A c.2537C>A (p.Thr846Asn) c.4385C>A (p.Thr1462Asn) n.597C>A n.2721C>A n.2256C>A c.362C>A (p.Thr121Asn) n.2106C>A c.4292C>A (p.Thr1431Asn) n.4673C>A | |
| 19 | g.11041419C>G | CA404073581 | SMARCA4 | c.4379C>G (p.Thr1460Ser) c.4283C>G (p.Thr1428Ser) c.4184C>G (p.Thr1395Ser) c.450C>G c.410C>G (p.Thr137Ser) c.224C>G (p.Thr75Ser) n.2524C>G c.2777C>G (p.Thr926Ser) c.1740C>G c.4280C>G (p.Thr1427Ser) c.2840C>G (p.Thr947Ser) c.4193C>G (p.Thr1398Ser) c.2568C>G c.4289C>G (p.Thr1430Ser) c.2647C>G n.776C>G c.3706C>G c.2920C>G c.2955C>G c.2937C>G c.2771C>G (p.Thr924Ser) c.832C>G c.2194C>G (n.2194C>G) c.2626C>G c.2131C>G (n.2131C>G) c.2583C>G n.786C>G c.2537C>G (p.Thr846Ser) c.4385C>G (p.Thr1462Ser) n.597C>G n.2721C>G n.2256C>G c.362C>G (p.Thr121Ser) n.2106C>G c.4292C>G (p.Thr1431Ser) n.4673C>G | dbSNP |
| 19 | g.11041419C>T | CA404073578 | SMARCA4 | c.4379C>T (p.Thr1460Ile) c.4283C>T (p.Thr1428Ile) c.4184C>T (p.Thr1395Ile) c.450C>T c.410C>T (p.Thr137Ile) c.224C>T (p.Thr75Ile) n.2524C>T c.2777C>T (p.Thr926Ile) c.1740C>T c.4280C>T (p.Thr1427Ile) c.2840C>T (p.Thr947Ile) c.4193C>T (p.Thr1398Ile) c.2568C>T c.4289C>T (p.Thr1430Ile) c.2647C>T n.776C>T c.3706C>T c.2920C>T c.2955C>T c.2937C>T c.2771C>T (p.Thr924Ile) c.832C>T c.2194C>T (n.2194C>T) c.2626C>T c.2131C>T (n.2131C>T) c.2583C>T n.786C>T c.2537C>T (p.Thr846Ile) c.4385C>T (p.Thr1462Ile) n.597C>T n.2721C>T n.2256C>T c.362C>T (p.Thr121Ile) n.2106C>T c.4292C>T (p.Thr1431Ile) n.4673C>T | dbSNP |
| 19 | g.11041420C>A | CA505743849 | SMARCA4 | c.4380C>A (p.Thr1460=) c.4284C>A (p.Thr1428=) c.4185C>A (p.Thr1395=) c.451C>A c.411C>A (p.Thr137=) c.225C>A (p.Thr75=) n.2525C>A c.2778C>A (p.Thr926=) c.1741C>A c.4281C>A (p.Thr1427=) c.2841C>A (p.Thr947=) c.4194C>A (p.Thr1398=) c.2569C>A c.4290C>A (p.Thr1430=) c.2648C>A n.777C>A c.3707C>A c.2921C>A c.2956C>A c.2938C>A c.2772C>A (p.Thr924=) c.833C>A c.2195C>A (n.2195C>A) c.2627C>A c.2132C>A (n.2132C>A) c.2584C>A n.787C>A c.2538C>A (p.Thr846=) c.4386C>A (p.Thr1462=) n.598C>A n.2722C>A n.2257C>A c.363C>A (p.Thr121=) n.2107C>A c.4293C>A (p.Thr1431=) n.4674C>A | dbSNP |
| 19 | g.11041420C>G | CA505743850 | SMARCA4 | c.4380C>G (p.Thr1460=) c.4284C>G (p.Thr1428=) c.4185C>G (p.Thr1395=) c.451C>G c.411C>G (p.Thr137=) c.225C>G (p.Thr75=) n.2525C>G c.2778C>G (p.Thr926=) c.1741C>G c.4281C>G (p.Thr1427=) c.2841C>G (p.Thr947=) c.4194C>G (p.Thr1398=) c.2569C>G c.4290C>G (p.Thr1430=) c.2648C>G n.777C>G c.3707C>G c.2921C>G c.2956C>G c.2938C>G c.2772C>G (p.Thr924=) c.833C>G c.2195C>G (n.2195C>G) c.2627C>G c.2132C>G (n.2132C>G) c.2584C>G n.787C>G c.2538C>G (p.Thr846=) c.4386C>G (p.Thr1462=) n.598C>G n.2722C>G n.2257C>G c.363C>G (p.Thr121=) n.2107C>G c.4293C>G (p.Thr1431=) n.4674C>G | ClinVar |
| 19 | g.11041420C>T | CA505743851 | SMARCA4 | c.4380C>T (p.Thr1460=) c.4284C>T (p.Thr1428=) c.4185C>T (p.Thr1395=) c.451C>T c.411C>T (p.Thr137=) c.225C>T (p.Thr75=) n.2525C>T c.2778C>T (p.Thr926=) c.1741C>T c.4281C>T (p.Thr1427=) c.2841C>T (p.Thr947=) c.4194C>T (p.Thr1398=) c.2569C>T c.4290C>T (p.Thr1430=) c.2648C>T n.777C>T c.3707C>T c.2921C>T c.2956C>T c.2938C>T c.2772C>T (p.Thr924=) c.833C>T c.2195C>T (n.2195C>T) c.2627C>T c.2132C>T (n.2132C>T) c.2584C>T n.787C>T c.2538C>T (p.Thr846=) c.4386C>T (p.Thr1462=) n.598C>T n.2722C>T n.2257C>T c.363C>T (p.Thr121=) n.2107C>T c.4293C>T (p.Thr1431=) n.4674C>T | ClinVar dbSNP |
| 19 | g.11041420_11041421insTGGGTGCTGGCTGTCCTATTTTACTACTATTGACCCTGAAGGCCATCGAGGAGGGCA | CA2582467156 | SMARCA4 | c.4380_4381insTGGGTGCTGGCTGTCCTATTTTACTACTATTGACCCTGAAGGCCATCGAGGAGGGCA c.4284_4285insTGGGTGCTGGCTGTCCTATTTTACTACTATTGACCCTGAAGGCCATCGAGGAGGGCA c.4185_4186insTGGGTGCTGGCTGTCCTATTTTACTACTATTGACCCTGAAGGCCATCGAGGAGGGCA c.451_452insTGGGTGCTGGCTGTCCTATTTTACTACTATTGACCCTGAAGGCCATCGAGGAGGGCA c.411_412insTGGGTGCTGGCTGTCCTATTTTACTACTATTGACCCTGAAGGCCATCGAGGAGGGCA c.225_226insTGGGTGCTGGCTGTCCTATTTTACTACTATTGACCCTGAAGGCCATCGAGGAGGGCA n.2525_2526insTGGGTGCTGGCTGTCCTATTTTACTACTATTGACCCTGAAGGCCATCGAGGAGGGCA c.2778_2779insTGGGTGCTGGCTGTCCTATTTTACTACTATTGACCCTGAAGGCCATCGAGGAGGGCA c.1741_1742insTGGGTGCTGGCTGTCCTATTTTACTACTATTGACCCTGAAGGCCATCGAGGAGGGCA c.4281_4282insTGGGTGCTGGCTGTCCTATTTTACTACTATTGACCCTGAAGGCCATCGAGGAGGGCA c.2841_2842insTGGGTGCTGGCTGTCCTATTTTACTACTATTGACCCTGAAGGCCATCGAGGAGGGCA c.4194_4195insTGGGTGCTGGCTGTCCTATTTTACTACTATTGACCCTGAAGGCCATCGAGGAGGGCA c.2569_2570insTGGGTGCTGGCTGTCCTATTTTACTACTATTGACCCTGAAGGCCATCGAGGAGGGCA c.4290_4291insTGGGTGCTGGCTGTCCTATTTTACTACTATTGACCCTGAAGGCCATCGAGGAGGGCA c.2648_2649insTGGGTGCTGGCTGTCCTATTTTACTACTATTGACCCTGAAGGCCATCGAGGAGGGCA n.777_778insTGGGTGCTGGCTGTCCTATTTTACTACTATTGACCCTGAAGGCCATCGAGGAGGGCA c.3707_3708insTGGGTGCTGGCTGTCCTATTTTACTACTATTGACCCTGAAGGCCATCGAGGAGGGCA c.2921_2922insTGGGTGCTGGCTGTCCTATTTTACTACTATTGACCCTGAAGGCCATCGAGGAGGGCA c.2956_2957insTGGGTGCTGGCTGTCCTATTTTACTACTATTGACCCTGAAGGCCATCGAGGAGGGCA c.2938_2939insTGGGTGCTGGCTGTCCTATTTTACTACTATTGACCCTGAAGGCCATCGAGGAGGGCA c.2772_2773insTGGGTGCTGGCTGTCCTATTTTACTACTATTGACCCTGAAGGCCATCGAGGAGGGCA c.833_834insTGGGTGCTGGCTGTCCTATTTTACTACTATTGACCCTGAAGGCCATCGAGGAGGGCA c.2195_2196insTGGGTGCTGGCTGTCCTATTTTACTACTATTGACCCTGAAGGCCATCGAGGAGGGCA (n.2195_2196insTGGGTGCTGGCTGTCCTATTTTACTACTATTGACCCTGAAGGCCATCGAGGAGGGCA) c.2627_2628insTGGGTGCTGGCTGTCCTATTTTACTACTATTGACCCTGAAGGCCATCGAGGAGGGCA c.2132_2133insTGGGTGCTGGCTGTCCTATTTTACTACTATTGACCCTGAAGGCCATCGAGGAGGGCA (n.2132_2133insTGGGTGCTGGCTGTCCTATTTTACTACTATTGACCCTGAAGGCCATCGAGGAGGGCA) c.2584_2585insTGGGTGCTGGCTGTCCTATTTTACTACTATTGACCCTGAAGGCCATCGAGGAGGGCA n.787_788insTGGGTGCTGGCTGTCCTATTTTACTACTATTGACCCTGAAGGCCATCGAGGAGGGCA c.2538_2539insTGGGTGCTGGCTGTCCTATTTTACTACTATTGACCCTGAAGGCCATCGAGGAGGGCA c.4386_4387insTGGGTGCTGGCTGTCCTATTTTACTACTATTGACCCTGAAGGCCATCGAGGAGGGCA n.598_599insTGGGTGCTGGCTGTCCTATTTTACTACTATTGACCCTGAAGGCCATCGAGGAGGGCA n.2722_2723insTGGGTGCTGGCTGTCCTATTTTACTACTATTGACCCTGAAGGCCATCGAGGAGGGCA n.2257_2258insTGGGTGCTGGCTGTCCTATTTTACTACTATTGACCCTGAAGGCCATCGAGGAGGGCA c.363_364insTGGGTGCTGGCTGTCCTATTTTACTACTATTGACCCTGAAGGCCATCGAGGAGGGCA n.2107_2108insTGGGTGCTGGCTGTCCTATTTTACTACTATTGACCCTGAAGGCCATCGAGGAGGGCA c.4293_4294insTGGGTGCTGGCTGTCCTATTTTACTACTATTGACCCTGAAGGCCATCGAGGAGGGCA n.4674_4675insTGGGTGCTGGCTGTCCTATTTTACTACTATTGACCCTGAAGGCCATCGAGGAGGGCA | gnomAD v4 |
| 19 | g.11041421C>A | CA404073585 | SMARCA4 | c.4381C>A (p.Arg1461Ser) c.4285C>A (p.Arg1429Ser) c.4186C>A (p.Arg1396Ser) c.452C>A c.412C>A (p.Arg138Ser) c.226C>A (p.Arg76Ser) n.2526C>A c.2779C>A (p.Arg927Ser) c.1742C>A c.4282C>A (p.Arg1428Ser) c.2842C>A (p.Arg948Ser) c.4195C>A (p.Arg1399Ser) c.2570C>A c.4291C>A (p.Arg1431Ser) c.2649C>A n.778C>A c.3708C>A c.2922C>A c.2957C>A c.2939C>A c.2773C>A (p.Arg925Ser) c.834C>A c.2196C>A (n.2196C>A) c.2628C>A c.2133C>A (n.2133C>A) c.2585C>A n.788C>A c.2539C>A (p.Arg847Ser) c.4387C>A (p.Arg1463Ser) n.599C>A n.2723C>A n.2258C>A c.364C>A (p.Arg122Ser) n.2108C>A c.4294C>A (p.Arg1432Ser) n.4675C>A | ClinVar dbSNP gnomAD v4 |
| 19 | g.11041421C= | CA2322734952 | SMARCA4 | c.4381C= (p.Arg1461=) c.4285C= (p.Arg1429=) c.4186C= (p.Arg1396=) c.452C= c.412C= (p.Arg138=) c.226C= (p.Arg76=) n.2526C= c.2779C= (p.Arg927=) c.1742C= c.4282C= (p.Arg1428=) c.2842C= (p.Arg948=) c.4195C= (p.Arg1399=) c.2570C= c.4291C= (p.Arg1431=) c.2649C= n.778C= c.3708C= c.2922C= c.2957C= c.2939C= c.2773C= (p.Arg925=) c.834C= c.2196C= (n.2196C=) c.2628C= c.2133C= (n.2133C=) c.2585C= n.788C= c.2539C= (p.Arg847=) c.4387C= (p.Arg1463=) n.599C= n.2723C= n.2258C= c.364C= (p.Arg122=) n.2108C= c.4294C= (p.Arg1432=) n.4675C= | |
| 19 | g.11041421C>G | CA404073589 | SMARCA4 | c.4381C>G (p.Arg1461Gly) c.4285C>G (p.Arg1429Gly) c.4186C>G (p.Arg1396Gly) c.452C>G c.412C>G (p.Arg138Gly) c.226C>G (p.Arg76Gly) n.2526C>G c.2779C>G (p.Arg927Gly) c.1742C>G c.4282C>G (p.Arg1428Gly) c.2842C>G (p.Arg948Gly) c.4195C>G (p.Arg1399Gly) c.2570C>G c.4291C>G (p.Arg1431Gly) c.2649C>G n.778C>G c.3708C>G c.2922C>G c.2957C>G c.2939C>G c.2773C>G (p.Arg925Gly) c.834C>G c.2196C>G (n.2196C>G) c.2628C>G c.2133C>G (n.2133C>G) c.2585C>G n.788C>G c.2539C>G (p.Arg847Gly) c.4387C>G (p.Arg1463Gly) n.599C>G n.2723C>G n.2258C>G c.364C>G (p.Arg122Gly) n.2108C>G c.4294C>G (p.Arg1432Gly) n.4675C>G | |
| 19 | g.11041421C>T | CA16615972 | SMARCA4 | c.4381C>T (p.Arg1461Cys) c.4285C>T (p.Arg1429Cys) c.4186C>T (p.Arg1396Cys) c.452C>T c.412C>T (p.Arg138Cys) c.226C>T (p.Arg76Cys) n.2526C>T c.2779C>T (p.Arg927Cys) c.1742C>T c.4282C>T (p.Arg1428Cys) c.2842C>T (p.Arg948Cys) c.4195C>T (p.Arg1399Cys) c.2570C>T c.4291C>T (p.Arg1431Cys) c.2649C>T n.778C>T c.3708C>T c.2922C>T c.2957C>T c.2939C>T c.2773C>T (p.Arg925Cys) c.834C>T c.2196C>T (n.2196C>T) c.2628C>T c.2133C>T (n.2133C>T) c.2585C>T n.788C>T c.2539C>T (p.Arg847Cys) c.4387C>T (p.Arg1463Cys) n.599C>T n.2723C>T n.2258C>T c.364C>T (p.Arg122Cys) n.2108C>T c.4294C>T (p.Arg1432Cys) n.4675C>T | ClinVar dbSNP gnomAD v4 |
| 19 | g.11041422G>A | CA404073593 | SMARCA4 | c.4382G>A (p.Arg1461His) c.4286G>A (p.Arg1429His) c.4187G>A (p.Arg1396His) c.453G>A c.413G>A (p.Arg138His) c.227G>A (p.Arg76His) n.2527G>A c.2780G>A (p.Arg927His) c.1743G>A c.4283G>A (p.Arg1428His) c.2843G>A (p.Arg948His) c.4196G>A (p.Arg1399His) c.2571G>A c.4292G>A (p.Arg1431His) c.2650G>A n.779G>A c.3709G>A c.2923G>A c.2958G>A c.2940G>A c.2774G>A (p.Arg925His) c.835G>A c.2197G>A (n.2197G>A) c.2629G>A c.2134G>A (n.2134G>A) c.2586G>A n.789G>A c.2540G>A (p.Arg847His) c.4388G>A (p.Arg1463His) n.600G>A n.2724G>A n.2259G>A c.365G>A (p.Arg122His) n.2109G>A c.4295G>A (p.Arg1432His) n.4676G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.11041422G>C | CA404073594 | SMARCA4 | c.4382G>C (p.Arg1461Pro) c.4286G>C (p.Arg1429Pro) c.4187G>C (p.Arg1396Pro) c.453G>C c.413G>C (p.Arg138Pro) c.227G>C (p.Arg76Pro) n.2527G>C c.2780G>C (p.Arg927Pro) c.1743G>C c.4283G>C (p.Arg1428Pro) c.2843G>C (p.Arg948Pro) c.4196G>C (p.Arg1399Pro) c.2571G>C c.4292G>C (p.Arg1431Pro) c.2650G>C n.779G>C c.3709G>C c.2923G>C c.2958G>C c.2940G>C c.2774G>C (p.Arg925Pro) c.835G>C c.2197G>C (n.2197G>C) c.2629G>C c.2134G>C (n.2134G>C) c.2586G>C n.789G>C c.2540G>C (p.Arg847Pro) c.4388G>C (p.Arg1463Pro) n.600G>C n.2724G>C n.2259G>C c.365G>C (p.Arg122Pro) n.2109G>C c.4295G>C (p.Arg1432Pro) n.4676G>C | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.11041422G= | CA2322734953 | SMARCA4 | c.4382G= (p.Arg1461=) c.4286G= (p.Arg1429=) c.4187G= (p.Arg1396=) c.453G= c.413G= (p.Arg138=) c.227G= (p.Arg76=) n.2527G= c.2780G= (p.Arg927=) c.1743G= c.4283G= (p.Arg1428=) c.2843G= (p.Arg948=) c.4196G= (p.Arg1399=) c.2571G= c.4292G= (p.Arg1431=) c.2650G= n.779G= c.3709G= c.2923G= c.2958G= c.2940G= c.2774G= (p.Arg925=) c.835G= c.2197G= (n.2197G=) c.2629G= c.2134G= (n.2134G=) c.2586G= n.789G= c.2540G= (p.Arg847=) c.4388G= (p.Arg1463=) n.600G= n.2724G= n.2259G= c.365G= (p.Arg122=) n.2109G= c.4295G= (p.Arg1432=) n.4676G= | |
| 19 | g.11041422G>T | CA404073597 | SMARCA4 | c.4382G>T (p.Arg1461Leu) c.4286G>T (p.Arg1429Leu) c.4187G>T (p.Arg1396Leu) c.453G>T c.413G>T (p.Arg138Leu) c.227G>T (p.Arg76Leu) n.2527G>T c.2780G>T (p.Arg927Leu) c.1743G>T c.4283G>T (p.Arg1428Leu) c.2843G>T (p.Arg948Leu) c.4196G>T (p.Arg1399Leu) c.2571G>T c.4292G>T (p.Arg1431Leu) c.2650G>T n.779G>T c.3709G>T c.2923G>T c.2958G>T c.2940G>T c.2774G>T (p.Arg925Leu) c.835G>T c.2197G>T (n.2197G>T) c.2629G>T c.2134G>T (n.2134G>T) c.2586G>T n.789G>T c.2540G>T (p.Arg847Leu) c.4388G>T (p.Arg1463Leu) n.600G>T n.2724G>T n.2259G>T c.365G>T (p.Arg122Leu) n.2109G>T c.4295G>T (p.Arg1432Leu) n.4676G>T | dbSNP gnomAD v4 |
| 19 | g.11041424_11041426del | CA2697556286 | SMARCA4 | c.4384_4386del (p.Ser1462del) c.4288_4290del (p.Ser1430del) c.4189_4191del (p.Ser1397del) c.455_457del c.415_417del (p.Ser139del) c.229_231del (p.Ser77del) n.2529_2531del c.2782_2784del (p.Ser928del) c.1745_1747del c.4285_4287del (p.Ser1429del) c.2845_2847del (p.Ser949del) c.4198_4200del (p.Ser1400del) c.2573_2575del c.4294_4296del (p.Ser1432del) c.2652_2654del n.781_783del c.3711_3713del c.2925_2927del c.2960_2962del c.2942_2944del c.2776_2778del (p.Ser926del) c.837_839del c.2199_2201del (n.2199_2201del) c.2631_2633del c.2136_2138del (n.2136_2138del) c.2588_2590del n.791_793del c.2542_2544del (p.Ser848del) c.4390_4392del (p.Ser1464del) n.602_604del n.2726_2728del n.2261_2263del c.367_369del (p.Ser123del) n.2111_2113del c.4297_4299del (p.Ser1433del) n.4678_4680del | ClinVar |
| 19 | g.11041423C>A | CA505743853 | SMARCA4 | c.4383C>A (p.Arg1461=) c.4287C>A (p.Arg1429=) c.4188C>A (p.Arg1396=) c.454C>A c.414C>A (p.Arg138=) c.228C>A (p.Arg76=) n.2528C>A c.2781C>A (p.Arg927=) c.1744C>A c.4284C>A (p.Arg1428=) c.2844C>A (p.Arg948=) c.4197C>A (p.Arg1399=) c.2572C>A c.4293C>A (p.Arg1431=) c.2651C>A n.780C>A c.3710C>A c.2924C>A c.2959C>A c.2941C>A c.2775C>A (p.Arg925=) c.836C>A c.2198C>A (n.2198C>A) c.2630C>A c.2135C>A (n.2135C>A) c.2587C>A n.790C>A c.2541C>A (p.Arg847=) c.4389C>A (p.Arg1463=) n.601C>A n.2725C>A n.2260C>A c.366C>A (p.Arg122=) n.2110C>A c.4296C>A (p.Arg1432=) n.4677C>A | |
| 19 | g.11041423C= | CA2322734954 | SMARCA4 | c.4383C= (p.Arg1461=) c.4287C= (p.Arg1429=) c.4188C= (p.Arg1396=) c.454C= c.414C= (p.Arg138=) c.228C= (p.Arg76=) n.2528C= c.2781C= (p.Arg927=) c.1744C= c.4284C= (p.Arg1428=) c.2844C= (p.Arg948=) c.4197C= (p.Arg1399=) c.2572C= c.4293C= (p.Arg1431=) c.2651C= n.780C= c.3710C= c.2924C= c.2959C= c.2941C= c.2775C= (p.Arg925=) c.836C= c.2198C= (n.2198C=) c.2630C= c.2135C= (n.2135C=) c.2587C= n.790C= c.2541C= (p.Arg847=) c.4389C= (p.Arg1463=) n.601C= n.2725C= n.2260C= c.366C= (p.Arg122=) n.2110C= c.4296C= (p.Arg1432=) n.4677C= | |
| 19 | g.11041423C>G | CA505743855 | SMARCA4 | c.4383C>G (p.Arg1461=) c.4287C>G (p.Arg1429=) c.4188C>G (p.Arg1396=) c.454C>G c.414C>G (p.Arg138=) c.228C>G (p.Arg76=) n.2528C>G c.2781C>G (p.Arg927=) c.1744C>G c.4284C>G (p.Arg1428=) c.2844C>G (p.Arg948=) c.4197C>G (p.Arg1399=) c.2572C>G c.4293C>G (p.Arg1431=) c.2651C>G n.780C>G c.3710C>G c.2924C>G c.2959C>G c.2941C>G c.2775C>G (p.Arg925=) c.836C>G c.2198C>G (n.2198C>G) c.2630C>G c.2135C>G (n.2135C>G) c.2587C>G n.790C>G c.2541C>G (p.Arg847=) c.4389C>G (p.Arg1463=) n.601C>G n.2725C>G n.2260C>G c.366C>G (p.Arg122=) n.2110C>G c.4296C>G (p.Arg1432=) n.4677C>G | dbSNP |
| 19 | g.11041423C>T | CA9204691 | SMARCA4 | c.4383C>T (p.Arg1461=) c.4287C>T (p.Arg1429=) c.4188C>T (p.Arg1396=) c.454C>T c.414C>T (p.Arg138=) c.228C>T (p.Arg76=) n.2528C>T c.2781C>T (p.Arg927=) c.1744C>T c.4284C>T (p.Arg1428=) c.2844C>T (p.Arg948=) c.4197C>T (p.Arg1399=) c.2572C>T c.4293C>T (p.Arg1431=) c.2651C>T n.780C>T c.3710C>T c.2924C>T c.2959C>T c.2941C>T c.2775C>T (p.Arg925=) c.836C>T c.2198C>T (n.2198C>T) c.2630C>T c.2135C>T (n.2135C>T) c.2587C>T n.790C>T c.2541C>T (p.Arg847=) c.4389C>T (p.Arg1463=) n.601C>T n.2725C>T n.2260C>T c.366C>T (p.Arg122=) n.2110C>T c.4296C>T (p.Arg1432=) n.4677C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.11041424A= | CA2322734955 | SMARCA4 | c.4384A= (p.Ser1462=) c.4288A= (p.Ser1430=) c.4189A= (p.Ser1397=) c.455A= c.415A= (p.Ser139=) c.229A= (p.Ser77=) n.2529A= c.2782A= (p.Ser928=) c.1745A= c.4285A= (p.Ser1429=) c.2845A= (p.Ser949=) c.4198A= (p.Ser1400=) c.2573A= c.4294A= (p.Ser1432=) c.2652A= n.781A= c.3711A= c.2925A= c.2960A= c.2942A= c.2776A= (p.Ser926=) c.837A= c.2199A= (n.2199A=) c.2631A= c.2136A= (n.2136A=) c.2588A= n.791A= c.2542A= (p.Ser848=) c.4390A= (p.Ser1464=) n.602A= n.2726A= n.2261A= c.367A= (p.Ser123=) n.2111A= c.4297A= (p.Ser1433=) n.4678A= | |
| 19 | g.11041424A>C | CA404073602 | SMARCA4 | c.4384A>C (p.Ser1462Arg) c.4288A>C (p.Ser1430Arg) c.4189A>C (p.Ser1397Arg) c.455A>C c.415A>C (p.Ser139Arg) c.229A>C (p.Ser77Arg) n.2529A>C c.2782A>C (p.Ser928Arg) c.1745A>C c.4285A>C (p.Ser1429Arg) c.2845A>C (p.Ser949Arg) c.4198A>C (p.Ser1400Arg) c.2573A>C c.4294A>C (p.Ser1432Arg) c.2652A>C n.781A>C c.3711A>C c.2925A>C c.2960A>C c.2942A>C c.2776A>C (p.Ser926Arg) c.837A>C c.2199A>C (n.2199A>C) c.2631A>C c.2136A>C (n.2136A>C) c.2588A>C n.791A>C c.2542A>C (p.Ser848Arg) c.4390A>C (p.Ser1464Arg) n.602A>C n.2726A>C n.2261A>C c.367A>C (p.Ser123Arg) n.2111A>C c.4297A>C (p.Ser1433Arg) n.4678A>C | dbSNP |
| 19 | g.11041424A>G | CA404073603 | SMARCA4 | c.4384A>G (p.Ser1462Gly) c.4288A>G (p.Ser1430Gly) c.4189A>G (p.Ser1397Gly) c.455A>G c.415A>G (p.Ser139Gly) c.229A>G (p.Ser77Gly) n.2529A>G c.2782A>G (p.Ser928Gly) c.1745A>G c.4285A>G (p.Ser1429Gly) c.2845A>G (p.Ser949Gly) c.4198A>G (p.Ser1400Gly) c.2573A>G c.4294A>G (p.Ser1432Gly) c.2652A>G n.781A>G c.3711A>G c.2925A>G c.2960A>G c.2942A>G c.2776A>G (p.Ser926Gly) c.837A>G c.2199A>G (n.2199A>G) c.2631A>G c.2136A>G (n.2136A>G) c.2588A>G n.791A>G c.2542A>G (p.Ser848Gly) c.4390A>G (p.Ser1464Gly) n.602A>G n.2726A>G n.2261A>G c.367A>G (p.Ser123Gly) n.2111A>G c.4297A>G (p.Ser1433Gly) n.4678A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.11041424A>T | CA404073606 | SMARCA4 | c.4384A>T (p.Ser1462Cys) c.4288A>T (p.Ser1430Cys) c.4189A>T (p.Ser1397Cys) c.455A>T c.415A>T (p.Ser139Cys) c.229A>T (p.Ser77Cys) n.2529A>T c.2782A>T (p.Ser928Cys) c.1745A>T c.4285A>T (p.Ser1429Cys) c.2845A>T (p.Ser949Cys) c.4198A>T (p.Ser1400Cys) c.2573A>T c.4294A>T (p.Ser1432Cys) c.2652A>T n.781A>T c.3711A>T c.2925A>T c.2960A>T c.2942A>T c.2776A>T (p.Ser926Cys) c.837A>T c.2199A>T (n.2199A>T) c.2631A>T c.2136A>T (n.2136A>T) c.2588A>T n.791A>T c.2542A>T (p.Ser848Cys) c.4390A>T (p.Ser1464Cys) n.602A>T n.2726A>T n.2261A>T c.367A>T (p.Ser123Cys) n.2111A>T c.4297A>T (p.Ser1433Cys) n.4678A>T | dbSNP |
| 19 | g.11041425G>A | CA404073619 | SMARCA4 | c.4385G>A (p.Ser1462Asn) c.4289G>A (p.Ser1430Asn) c.4190G>A (p.Ser1397Asn) c.456G>A c.416G>A (p.Ser139Asn) c.230G>A (p.Ser77Asn) n.2530G>A c.2783G>A (p.Ser928Asn) c.1746G>A c.4286G>A (p.Ser1429Asn) c.2846G>A (p.Ser949Asn) c.4199G>A (p.Ser1400Asn) c.2574G>A c.4295G>A (p.Ser1432Asn) c.2653G>A n.782G>A c.3712G>A c.2926G>A c.2961G>A c.2943G>A c.2777G>A (p.Ser926Asn) c.838G>A c.2200G>A (n.2200G>A) c.2632G>A c.2137G>A (n.2137G>A) c.2589G>A n.792G>A c.2543G>A (p.Ser848Asn) c.4391G>A (p.Ser1464Asn) n.603G>A n.2727G>A n.2262G>A c.368G>A (p.Ser123Asn) n.2112G>A c.4298G>A (p.Ser1433Asn) n.4679G>A | ClinVar dbSNP gnomAD v4 |
| 19 | g.11041425G>C | CA404073612 | SMARCA4 | c.4385G>C (p.Ser1462Thr) c.4289G>C (p.Ser1430Thr) c.4190G>C (p.Ser1397Thr) c.456G>C c.416G>C (p.Ser139Thr) c.230G>C (p.Ser77Thr) n.2530G>C c.2783G>C (p.Ser928Thr) c.1746G>C c.4286G>C (p.Ser1429Thr) c.2846G>C (p.Ser949Thr) c.4199G>C (p.Ser1400Thr) c.2574G>C c.4295G>C (p.Ser1432Thr) c.2653G>C n.782G>C c.3712G>C c.2926G>C c.2961G>C c.2943G>C c.2777G>C (p.Ser926Thr) c.838G>C c.2200G>C (n.2200G>C) c.2632G>C c.2137G>C (n.2137G>C) c.2589G>C n.792G>C c.2543G>C (p.Ser848Thr) c.4391G>C (p.Ser1464Thr) n.603G>C n.2727G>C n.2262G>C c.368G>C (p.Ser123Thr) n.2112G>C c.4298G>C (p.Ser1433Thr) n.4679G>C | |
| 19 | g.11041425G= | CA2322734957 | SMARCA4 | c.4385G= (p.Ser1462=) c.4289G= (p.Ser1430=) c.4190G= (p.Ser1397=) c.456G= c.416G= (p.Ser139=) c.230G= (p.Ser77=) n.2530G= c.2783G= (p.Ser928=) c.1746G= c.4286G= (p.Ser1429=) c.2846G= (p.Ser949=) c.4199G= (p.Ser1400=) c.2574G= c.4295G= (p.Ser1432=) c.2653G= n.782G= c.3712G= c.2926G= c.2961G= c.2943G= c.2777G= (p.Ser926=) c.838G= c.2200G= (n.2200G=) c.2632G= c.2137G= (n.2137G=) c.2589G= n.792G= c.2543G= (p.Ser848=) c.4391G= (p.Ser1464=) n.603G= n.2727G= n.2262G= c.368G= (p.Ser123=) n.2112G= c.4298G= (p.Ser1433=) n.4679G= | |
| 19 | g.11041425G>T | CA404073611 | SMARCA4 | c.4385G>T (p.Ser1462Ile) c.4289G>T (p.Ser1430Ile) c.4190G>T (p.Ser1397Ile) c.456G>T c.416G>T (p.Ser139Ile) c.230G>T (p.Ser77Ile) n.2530G>T c.2783G>T (p.Ser928Ile) c.1746G>T c.4286G>T (p.Ser1429Ile) c.2846G>T (p.Ser949Ile) c.4199G>T (p.Ser1400Ile) c.2574G>T c.4295G>T (p.Ser1432Ile) c.2653G>T n.782G>T c.3712G>T c.2926G>T c.2961G>T c.2943G>T c.2777G>T (p.Ser926Ile) c.838G>T c.2200G>T (n.2200G>T) c.2632G>T c.2137G>T (n.2137G>T) c.2589G>T n.792G>T c.2543G>T (p.Ser848Ile) c.4391G>T (p.Ser1464Ile) n.603G>T n.2727G>T n.2262G>T c.368G>T (p.Ser123Ile) n.2112G>T c.4298G>T (p.Ser1433Ile) n.4679G>T | |
| 19 | g.11041426C>A | CA305294372 | SMARCA4 | c.4386C>A (p.Ser1462Arg) c.4290C>A (p.Ser1430Arg) c.4191C>A (p.Ser1397Arg) c.457C>A c.417C>A (p.Ser139Arg) c.231C>A (p.Ser77Arg) n.2531C>A c.2784C>A (p.Ser928Arg) c.1747C>A c.4287C>A (p.Ser1429Arg) c.2847C>A (p.Ser949Arg) c.4200C>A (p.Ser1400Arg) c.2575C>A c.4296C>A (p.Ser1432Arg) c.2654C>A n.783C>A c.3713C>A c.2927C>A c.2962C>A c.2944C>A c.2778C>A (p.Ser926Arg) c.839C>A c.2201C>A (n.2201C>A) c.2633C>A c.2138C>A (n.2138C>A) c.2590C>A n.793C>A c.2544C>A (p.Ser848Arg) c.4392C>A (p.Ser1464Arg) n.604C>A n.2728C>A n.2263C>A c.369C>A (p.Ser123Arg) n.2113C>A c.4299C>A (p.Ser1433Arg) n.4680C>A | ClinVar dbSNP gnomAD v4 |
| 19 | g.11041426C= | CA2322734962 | SMARCA4 | c.4386C= (p.Ser1462=) c.4290C= (p.Ser1430=) c.4191C= (p.Ser1397=) c.457C= c.417C= (p.Ser139=) c.231C= (p.Ser77=) n.2531C= c.2784C= (p.Ser928=) c.1747C= c.4287C= (p.Ser1429=) c.2847C= (p.Ser949=) c.4200C= (p.Ser1400=) c.2575C= c.4296C= (p.Ser1432=) c.2654C= n.783C= c.3713C= c.2927C= c.2962C= c.2944C= c.2778C= (p.Ser926=) c.839C= c.2201C= (n.2201C=) c.2633C= c.2138C= (n.2138C=) c.2590C= n.793C= c.2544C= (p.Ser848=) c.4392C= (p.Ser1464=) n.604C= n.2728C= n.2263C= c.369C= (p.Ser123=) n.2113C= c.4299C= (p.Ser1433=) n.4680C= | |
| 19 | g.11041426C>G | CA404073625 | SMARCA4 | c.4386C>G (p.Ser1462Arg) c.4290C>G (p.Ser1430Arg) c.4191C>G (p.Ser1397Arg) c.457C>G c.417C>G (p.Ser139Arg) c.231C>G (p.Ser77Arg) n.2531C>G c.2784C>G (p.Ser928Arg) c.1747C>G c.4287C>G (p.Ser1429Arg) c.2847C>G (p.Ser949Arg) c.4200C>G (p.Ser1400Arg) c.2575C>G c.4296C>G (p.Ser1432Arg) c.2654C>G n.783C>G c.3713C>G c.2927C>G c.2962C>G c.2944C>G c.2778C>G (p.Ser926Arg) c.839C>G c.2201C>G (n.2201C>G) c.2633C>G c.2138C>G (n.2138C>G) c.2590C>G n.793C>G c.2544C>G (p.Ser848Arg) c.4392C>G (p.Ser1464Arg) n.604C>G n.2728C>G n.2263C>G c.369C>G (p.Ser123Arg) n.2113C>G c.4299C>G (p.Ser1433Arg) n.4680C>G | |
| 19 | g.11041426C>T | CA505743857 | SMARCA4 | c.4386C>T (p.Ser1462=) c.4290C>T (p.Ser1430=) c.4191C>T (p.Ser1397=) c.457C>T c.417C>T (p.Ser139=) c.231C>T (p.Ser77=) n.2531C>T c.2784C>T (p.Ser928=) c.1747C>T c.4287C>T (p.Ser1429=) c.2847C>T (p.Ser949=) c.4200C>T (p.Ser1400=) c.2575C>T c.4296C>T (p.Ser1432=) c.2654C>T n.783C>T c.3713C>T c.2927C>T c.2962C>T c.2944C>T c.2778C>T (p.Ser926=) c.839C>T c.2201C>T (n.2201C>T) c.2633C>T c.2138C>T (n.2138C>T) c.2590C>T n.793C>T c.2544C>T (p.Ser848=) c.4392C>T (p.Ser1464=) n.604C>T n.2728C>T n.2263C>T c.369C>T (p.Ser123=) n.2113C>T c.4299C>T (p.Ser1433=) n.4680C>T | ClinVar dbSNP |
| 19 | g.11041427C>A | CA404073628 | SMARCA4 | c.4387C>A (p.Arg1463Ser) c.4291C>A (p.Arg1431Ser) c.4192C>A (p.Arg1398Ser) c.458C>A c.418C>A (p.Arg140Ser) c.232C>A (p.Arg78Ser) n.2532C>A c.2785C>A (p.Arg929Ser) c.1748C>A c.4288C>A (p.Arg1430Ser) c.2848C>A (p.Arg950Ser) c.4201C>A (p.Arg1401Ser) c.2576C>A c.4297C>A (p.Arg1433Ser) c.2655C>A n.784C>A c.3714C>A c.2928C>A c.2963C>A c.2945C>A c.2779C>A (p.Arg927Ser) c.840C>A c.2202C>A (n.2202C>A) c.2634C>A c.2139C>A (n.2139C>A) c.2591C>A n.794C>A c.2545C>A (p.Arg849Ser) c.4393C>A (p.Arg1465Ser) n.605C>A n.2729C>A n.2264C>A c.370C>A (p.Arg124Ser) n.2114C>A c.4300C>A (p.Arg1434Ser) n.4681C>A | dbSNP |
| 19 | g.11041427C= | CA2322734968 | SMARCA4 | c.4387C= (p.Arg1463=) c.4291C= (p.Arg1431=) c.4192C= (p.Arg1398=) c.458C= c.418C= (p.Arg140=) c.232C= (p.Arg78=) n.2532C= c.2785C= (p.Arg929=) c.1748C= c.4288C= (p.Arg1430=) c.2848C= (p.Arg950=) c.4201C= (p.Arg1401=) c.2576C= c.4297C= (p.Arg1433=) c.2655C= n.784C= c.3714C= c.2928C= c.2963C= c.2945C= c.2779C= (p.Arg927=) c.840C= c.2202C= (n.2202C=) c.2634C= c.2139C= (n.2139C=) c.2591C= n.794C= c.2545C= (p.Arg849=) c.4393C= (p.Arg1465=) n.605C= n.2729C= n.2264C= c.370C= (p.Arg124=) n.2114C= c.4300C= (p.Arg1434=) n.4681C= | |
| 19 | g.11041427C>G | CA404073631 | SMARCA4 | c.4387C>G (p.Arg1463Gly) c.4291C>G (p.Arg1431Gly) c.4192C>G (p.Arg1398Gly) c.458C>G c.418C>G (p.Arg140Gly) c.232C>G (p.Arg78Gly) n.2532C>G c.2785C>G (p.Arg929Gly) c.1748C>G c.4288C>G (p.Arg1430Gly) c.2848C>G (p.Arg950Gly) c.4201C>G (p.Arg1401Gly) c.2576C>G c.4297C>G (p.Arg1433Gly) c.2655C>G n.784C>G c.3714C>G c.2928C>G c.2963C>G c.2945C>G c.2779C>G (p.Arg927Gly) c.840C>G c.2202C>G (n.2202C>G) c.2634C>G c.2139C>G (n.2139C>G) c.2591C>G n.794C>G c.2545C>G (p.Arg849Gly) c.4393C>G (p.Arg1465Gly) n.605C>G n.2729C>G n.2264C>G c.370C>G (p.Arg124Gly) n.2114C>G c.4300C>G (p.Arg1434Gly) n.4681C>G | ClinVar dbSNP |
| 19 | g.11041427C>T | CA162141 | SMARCA4 | c.4387C>T (p.Arg1463Cys) c.4291C>T (p.Arg1431Cys) c.4192C>T (p.Arg1398Cys) c.458C>T c.418C>T (p.Arg140Cys) c.232C>T (p.Arg78Cys) n.2532C>T c.2785C>T (p.Arg929Cys) c.1748C>T c.4288C>T (p.Arg1430Cys) c.2848C>T (p.Arg950Cys) c.4201C>T (p.Arg1401Cys) c.2576C>T c.4297C>T (p.Arg1433Cys) c.2655C>T n.784C>T c.3714C>T c.2928C>T c.2963C>T c.2945C>T c.2779C>T (p.Arg927Cys) c.840C>T c.2202C>T (n.2202C>T) c.2634C>T c.2139C>T (n.2139C>T) c.2591C>T n.794C>T c.2545C>T (p.Arg849Cys) c.4393C>T (p.Arg1465Cys) n.605C>T n.2729C>T n.2264C>T c.370C>T (p.Arg124Cys) n.2114C>T c.4300C>T (p.Arg1434Cys) n.4681C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11041428G>A | CA9204692 | SMARCA4 | c.4388G>A (p.Arg1463His) c.4292G>A (p.Arg1431His) c.4193G>A (p.Arg1398His) c.459G>A c.419G>A (p.Arg140His) c.233G>A (p.Arg78His) n.2533G>A c.2786G>A (p.Arg929His) c.1749G>A c.4289G>A (p.Arg1430His) c.2849G>A (p.Arg950His) c.4202G>A (p.Arg1401His) c.2577G>A c.4298G>A (p.Arg1433His) c.2656G>A n.785G>A c.3715G>A c.2929G>A c.2964G>A c.2946G>A c.2780G>A (p.Arg927His) c.841G>A c.2203G>A (n.2203G>A) c.2635G>A c.2140G>A (n.2140G>A) c.2592G>A n.795G>A c.2546G>A (p.Arg849His) c.4394G>A (p.Arg1465His) n.606G>A n.2730G>A n.2265G>A c.371G>A (p.Arg124His) n.2115G>A c.4301G>A (p.Arg1434His) n.4682G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11041428G>C | CA404073643 | SMARCA4 | c.4388G>C (p.Arg1463Pro) c.4292G>C (p.Arg1431Pro) c.4193G>C (p.Arg1398Pro) c.459G>C c.419G>C (p.Arg140Pro) c.233G>C (p.Arg78Pro) n.2533G>C c.2786G>C (p.Arg929Pro) c.1749G>C c.4289G>C (p.Arg1430Pro) c.2849G>C (p.Arg950Pro) c.4202G>C (p.Arg1401Pro) c.2577G>C c.4298G>C (p.Arg1433Pro) c.2656G>C n.785G>C c.3715G>C c.2929G>C c.2964G>C c.2946G>C c.2780G>C (p.Arg927Pro) c.841G>C c.2203G>C (n.2203G>C) c.2635G>C c.2140G>C (n.2140G>C) c.2592G>C n.795G>C c.2546G>C (p.Arg849Pro) c.4394G>C (p.Arg1465Pro) n.606G>C n.2730G>C n.2265G>C c.371G>C (p.Arg124Pro) n.2115G>C c.4301G>C (p.Arg1434Pro) n.4682G>C | dbSNP |
| 19 | g.11041428G= | CA2322734980 | SMARCA4 | c.4388G= (p.Arg1463=) c.4292G= (p.Arg1431=) c.4193G= (p.Arg1398=) c.459G= c.419G= (p.Arg140=) c.233G= (p.Arg78=) n.2533G= c.2786G= (p.Arg929=) c.1749G= c.4289G= (p.Arg1430=) c.2849G= (p.Arg950=) c.4202G= (p.Arg1401=) c.2577G= c.4298G= (p.Arg1433=) c.2656G= n.785G= c.3715G= c.2929G= c.2964G= c.2946G= c.2780G= (p.Arg927=) c.841G= c.2203G= (n.2203G=) c.2635G= c.2140G= (n.2140G=) c.2592G= n.795G= c.2546G= (p.Arg849=) c.4394G= (p.Arg1465=) n.606G= n.2730G= n.2265G= c.371G= (p.Arg124=) n.2115G= c.4301G= (p.Arg1434=) n.4682G= | |
| 19 | g.11041428G>T | CA404073646 | SMARCA4 | c.4388G>T (p.Arg1463Leu) c.4292G>T (p.Arg1431Leu) c.4193G>T (p.Arg1398Leu) c.459G>T c.419G>T (p.Arg140Leu) c.233G>T (p.Arg78Leu) n.2533G>T c.2786G>T (p.Arg929Leu) c.1749G>T c.4289G>T (p.Arg1430Leu) c.2849G>T (p.Arg950Leu) c.4202G>T (p.Arg1401Leu) c.2577G>T c.4298G>T (p.Arg1433Leu) c.2656G>T n.785G>T c.3715G>T c.2929G>T c.2964G>T c.2946G>T c.2780G>T (p.Arg927Leu) c.841G>T c.2203G>T (n.2203G>T) c.2635G>T c.2140G>T (n.2140G>T) c.2592G>T n.795G>T c.2546G>T (p.Arg849Leu) c.4394G>T (p.Arg1465Leu) n.606G>T n.2730G>T n.2265G>T c.371G>T (p.Arg124Leu) n.2115G>T c.4301G>T (p.Arg1434Leu) n.4682G>T | dbSNP gnomAD v4 |
| 19 | g.11041429C>A | CA505743860 | SMARCA4 | c.4389C>A (p.Arg1463=) c.4293C>A (p.Arg1431=) c.4194C>A (p.Arg1398=) c.460C>A c.420C>A (p.Arg140=) c.234C>A (p.Arg78=) n.2534C>A c.2787C>A (p.Arg929=) c.1750C>A c.4290C>A (p.Arg1430=) c.2850C>A (p.Arg950=) c.4203C>A (p.Arg1401=) c.2578C>A c.4299C>A (p.Arg1433=) c.2657C>A n.786C>A c.3716C>A c.2930C>A c.2965C>A c.2947C>A c.2781C>A (p.Arg927=) c.842C>A c.2204C>A (n.2204C>A) c.2636C>A c.2141C>A (n.2141C>A) c.2593C>A n.796C>A c.2547C>A (p.Arg849=) c.4395C>A (p.Arg1465=) n.607C>A n.2731C>A n.2266C>A c.372C>A (p.Arg124=) n.2116C>A c.4302C>A (p.Arg1434=) n.4683C>A | dbSNP |
| 19 | g.11041429C= | CA2322734985 | SMARCA4 | c.4389C= (p.Arg1463=) c.4293C= (p.Arg1431=) c.4194C= (p.Arg1398=) c.460C= c.420C= (p.Arg140=) c.234C= (p.Arg78=) n.2534C= c.2787C= (p.Arg929=) c.1750C= c.4290C= (p.Arg1430=) c.2850C= (p.Arg950=) c.4203C= (p.Arg1401=) c.2578C= c.4299C= (p.Arg1433=) c.2657C= n.786C= c.3716C= c.2930C= c.2965C= c.2947C= c.2781C= (p.Arg927=) c.842C= c.2204C= (n.2204C=) c.2636C= c.2141C= (n.2141C=) c.2593C= n.796C= c.2547C= (p.Arg849=) c.4395C= (p.Arg1465=) n.607C= n.2731C= n.2266C= c.372C= (p.Arg124=) n.2116C= c.4302C= (p.Arg1434=) n.4683C= | |
| 19 | g.11041429C>G | CA505743861 | SMARCA4 | c.4389C>G (p.Arg1463=) c.4293C>G (p.Arg1431=) c.4194C>G (p.Arg1398=) c.460C>G c.420C>G (p.Arg140=) c.234C>G (p.Arg78=) n.2534C>G c.2787C>G (p.Arg929=) c.1750C>G c.4290C>G (p.Arg1430=) c.2850C>G (p.Arg950=) c.4203C>G (p.Arg1401=) c.2578C>G c.4299C>G (p.Arg1433=) c.2657C>G n.786C>G c.3716C>G c.2930C>G c.2965C>G c.2947C>G c.2781C>G (p.Arg927=) c.842C>G c.2204C>G (n.2204C>G) c.2636C>G c.2141C>G (n.2141C>G) c.2593C>G n.796C>G c.2547C>G (p.Arg849=) c.4395C>G (p.Arg1465=) n.607C>G n.2731C>G n.2266C>G c.372C>G (p.Arg124=) n.2116C>G c.4302C>G (p.Arg1434=) n.4683C>G | dbSNP |
| 19 | g.11041429C>T | CA9204693 | SMARCA4 | c.4389C>T (p.Arg1463=) c.4293C>T (p.Arg1431=) c.4194C>T (p.Arg1398=) c.460C>T c.420C>T (p.Arg140=) c.234C>T (p.Arg78=) n.2534C>T c.2787C>T (p.Arg929=) c.1750C>T c.4290C>T (p.Arg1430=) c.2850C>T (p.Arg950=) c.4203C>T (p.Arg1401=) c.2578C>T c.4299C>T (p.Arg1433=) c.2657C>T n.786C>T c.3716C>T c.2930C>T c.2965C>T c.2947C>T c.2781C>T (p.Arg927=) c.842C>T c.2204C>T (n.2204C>T) c.2636C>T c.2141C>T (n.2141C>T) c.2593C>T n.796C>T c.2547C>T (p.Arg849=) c.4395C>T (p.Arg1465=) n.607C>T n.2731C>T n.2266C>T c.372C>T (p.Arg124=) n.2116C>T c.4302C>T (p.Arg1434=) n.4683C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11041430G>A | CA9204694 | SMARCA4 | c.4390G>A (p.Asp1464Asn) c.4294G>A (p.Asp1432Asn) c.4195G>A (p.Asp1399Asn) c.461G>A c.421G>A (p.Asp141Asn) c.235G>A (p.Asp79Asn) n.2535G>A c.2788G>A (p.Asp930Asn) c.1751G>A c.4291G>A (p.Asp1431Asn) c.2851G>A (p.Asp951Asn) c.4204G>A (p.Asp1402Asn) c.2579G>A c.4300G>A (p.Asp1434Asn) c.2658G>A n.787G>A c.3717G>A c.2931G>A c.2966G>A c.2948G>A c.2782G>A (p.Asp928Asn) c.843G>A c.2205G>A (n.2205G>A) c.2637G>A c.2142G>A (n.2142G>A) c.2594G>A n.797G>A c.2548G>A (p.Asp850Asn) c.4396G>A (p.Asp1466Asn) n.608G>A n.2732G>A n.2267G>A c.373G>A (p.Asp125Asn) n.2117G>A c.4303G>A (p.Asp1435Asn) n.4684G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11041430G>C | CA404073647 | SMARCA4 | c.4390G>C (p.Asp1464His) c.4294G>C (p.Asp1432His) c.4195G>C (p.Asp1399His) c.461G>C c.421G>C (p.Asp141His) c.235G>C (p.Asp79His) n.2535G>C c.2788G>C (p.Asp930His) c.1751G>C c.4291G>C (p.Asp1431His) c.2851G>C (p.Asp951His) c.4204G>C (p.Asp1402His) c.2579G>C c.4300G>C (p.Asp1434His) c.2658G>C n.787G>C c.3717G>C c.2931G>C c.2966G>C c.2948G>C c.2782G>C (p.Asp928His) c.843G>C c.2205G>C (n.2205G>C) c.2637G>C c.2142G>C (n.2142G>C) c.2594G>C n.797G>C c.2548G>C (p.Asp850His) c.4396G>C (p.Asp1466His) n.608G>C n.2732G>C n.2267G>C c.373G>C (p.Asp125His) n.2117G>C c.4303G>C (p.Asp1435His) n.4684G>C | dbSNP |
| 19 | g.11041430G= | CA2322734991 | SMARCA4 | c.4390G= (p.Asp1464=) c.4294G= (p.Asp1432=) c.4195G= (p.Asp1399=) c.461G= c.421G= (p.Asp141=) c.235G= (p.Asp79=) n.2535G= c.2788G= (p.Asp930=) c.1751G= c.4291G= (p.Asp1431=) c.2851G= (p.Asp951=) c.4204G= (p.Asp1402=) c.2579G= c.4300G= (p.Asp1434=) c.2658G= n.787G= c.3717G= c.2931G= c.2966G= c.2948G= c.2782G= (p.Asp928=) c.843G= c.2205G= (n.2205G=) c.2637G= c.2142G= (n.2142G=) c.2594G= n.797G= c.2548G= (p.Asp850=) c.4396G= (p.Asp1466=) n.608G= n.2732G= n.2267G= c.373G= (p.Asp125=) n.2117G= c.4303G= (p.Asp1435=) n.4684G= | |
| 19 | g.11041430G>T | CA404073649 | SMARCA4 | c.4390G>T (p.Asp1464Tyr) c.4294G>T (p.Asp1432Tyr) c.4195G>T (p.Asp1399Tyr) c.461G>T c.421G>T (p.Asp141Tyr) c.235G>T (p.Asp79Tyr) n.2535G>T c.2788G>T (p.Asp930Tyr) c.1751G>T c.4291G>T (p.Asp1431Tyr) c.2851G>T (p.Asp951Tyr) c.4204G>T (p.Asp1402Tyr) c.2579G>T c.4300G>T (p.Asp1434Tyr) c.2658G>T n.787G>T c.3717G>T c.2931G>T c.2966G>T c.2948G>T c.2782G>T (p.Asp928Tyr) c.843G>T c.2205G>T (n.2205G>T) c.2637G>T c.2142G>T (n.2142G>T) c.2594G>T n.797G>T c.2548G>T (p.Asp850Tyr) c.4396G>T (p.Asp1466Tyr) n.608G>T n.2732G>T n.2267G>T c.373G>T (p.Asp125Tyr) n.2117G>T c.4303G>T (p.Asp1435Tyr) n.4684G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.11041431A= | CA2322734995 | SMARCA4 | c.4391A= (p.Asp1464=) c.4295A= (p.Asp1432=) c.4196A= (p.Asp1399=) c.462A= c.422A= (p.Asp141=) c.236A= (p.Asp79=) n.2536A= c.2789A= (p.Asp930=) c.1752A= c.4292A= (p.Asp1431=) c.2852A= (p.Asp951=) c.4205A= (p.Asp1402=) c.2580A= c.4301A= (p.Asp1434=) c.2659A= n.788A= c.3718A= c.2932A= c.2967A= c.2949A= c.2783A= (p.Asp928=) c.844A= c.2206A= (n.2206A=) c.2638A= c.2143A= (n.2143A=) c.2595A= n.798A= c.2549A= (p.Asp850=) c.4397A= (p.Asp1466=) n.609A= n.2733A= n.2268A= c.374A= (p.Asp125=) n.2118A= c.4304A= (p.Asp1435=) n.4685A= | |
| 19 | g.11041431A>C | CA404073654 | SMARCA4 | c.4391A>C (p.Asp1464Ala) c.4295A>C (p.Asp1432Ala) c.4196A>C (p.Asp1399Ala) c.462A>C c.422A>C (p.Asp141Ala) c.236A>C (p.Asp79Ala) n.2536A>C c.2789A>C (p.Asp930Ala) c.1752A>C c.4292A>C (p.Asp1431Ala) c.2852A>C (p.Asp951Ala) c.4205A>C (p.Asp1402Ala) c.2580A>C c.4301A>C (p.Asp1434Ala) c.2659A>C n.788A>C c.3718A>C c.2932A>C c.2967A>C c.2949A>C c.2783A>C (p.Asp928Ala) c.844A>C c.2206A>C (n.2206A>C) c.2638A>C c.2143A>C (n.2143A>C) c.2595A>C n.798A>C c.2549A>C (p.Asp850Ala) c.4397A>C (p.Asp1466Ala) n.609A>C n.2733A>C n.2268A>C c.374A>C (p.Asp125Ala) n.2118A>C c.4304A>C (p.Asp1435Ala) n.4685A>C | gnomAD v4 |
| 19 | g.11041431A>G | CA404073656 | SMARCA4 | c.4391A>G (p.Asp1464Gly) c.4295A>G (p.Asp1432Gly) c.4196A>G (p.Asp1399Gly) c.462A>G c.422A>G (p.Asp141Gly) c.236A>G (p.Asp79Gly) n.2536A>G c.2789A>G (p.Asp930Gly) c.1752A>G c.4292A>G (p.Asp1431Gly) c.2852A>G (p.Asp951Gly) c.4205A>G (p.Asp1402Gly) c.2580A>G c.4301A>G (p.Asp1434Gly) c.2659A>G n.788A>G c.3718A>G c.2932A>G c.2967A>G c.2949A>G c.2783A>G (p.Asp928Gly) c.844A>G c.2206A>G (n.2206A>G) c.2638A>G c.2143A>G (n.2143A>G) c.2595A>G n.798A>G c.2549A>G (p.Asp850Gly) c.4397A>G (p.Asp1466Gly) n.609A>G n.2733A>G n.2268A>G c.374A>G (p.Asp125Gly) n.2118A>G c.4304A>G (p.Asp1435Gly) n.4685A>G | ClinVar dbSNP gnomAD v4 |
| 19 | g.11041431A>T | CA404073651 | SMARCA4 | c.4391A>T (p.Asp1464Val) c.4295A>T (p.Asp1432Val) c.4196A>T (p.Asp1399Val) c.462A>T c.422A>T (p.Asp141Val) c.236A>T (p.Asp79Val) n.2536A>T c.2789A>T (p.Asp930Val) c.1752A>T c.4292A>T (p.Asp1431Val) c.2852A>T (p.Asp951Val) c.4205A>T (p.Asp1402Val) c.2580A>T c.4301A>T (p.Asp1434Val) c.2659A>T n.788A>T c.3718A>T c.2932A>T c.2967A>T c.2949A>T c.2783A>T (p.Asp928Val) c.844A>T c.2206A>T (n.2206A>T) c.2638A>T c.2143A>T (n.2143A>T) c.2595A>T n.798A>T c.2549A>T (p.Asp850Val) c.4397A>T (p.Asp1466Val) n.609A>T n.2733A>T n.2268A>T c.374A>T (p.Asp125Val) n.2118A>T c.4304A>T (p.Asp1435Val) n.4685A>T | dbSNP |
| 19 | g.11041432C>A | CA9204695 | SMARCA4 | c.4392C>A (p.Asp1464Glu) c.4296C>A (p.Asp1432Glu) c.4197C>A (p.Asp1399Glu) c.463C>A c.423C>A (p.Asp141Glu) c.237C>A (p.Asp79Glu) n.2537C>A c.2790C>A (p.Asp930Glu) c.1753C>A c.4293C>A (p.Asp1431Glu) c.2853C>A (p.Asp951Glu) c.4206C>A (p.Asp1402Glu) c.2581C>A c.4302C>A (p.Asp1434Glu) c.2660C>A n.789C>A c.3719C>A c.2933C>A c.2968C>A c.2950C>A c.2784C>A (p.Asp928Glu) c.845C>A c.2207C>A (n.2207C>A) c.2639C>A c.2144C>A (n.2144C>A) c.2596C>A n.799C>A c.2550C>A (p.Asp850Glu) c.4398C>A (p.Asp1466Glu) n.610C>A n.2734C>A n.2269C>A c.375C>A (p.Asp125Glu) n.2119C>A c.4305C>A (p.Asp1435Glu) n.4686C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11041432C= | CA2322734997 | SMARCA4 | c.4392C= (p.Asp1464=) c.4296C= (p.Asp1432=) c.4197C= (p.Asp1399=) c.463C= c.423C= (p.Asp141=) c.237C= (p.Asp79=) n.2537C= c.2790C= (p.Asp930=) c.1753C= c.4293C= (p.Asp1431=) c.2853C= (p.Asp951=) c.4206C= (p.Asp1402=) c.2581C= c.4302C= (p.Asp1434=) c.2660C= n.789C= c.3719C= c.2933C= c.2968C= c.2950C= c.2784C= (p.Asp928=) c.845C= c.2207C= (n.2207C=) c.2639C= c.2144C= (n.2144C=) c.2596C= n.799C= c.2550C= (p.Asp850=) c.4398C= (p.Asp1466=) n.610C= n.2734C= n.2269C= c.375C= (p.Asp125=) n.2119C= c.4305C= (p.Asp1435=) n.4686C= | |
| 19 | g.11041432C>G | CA404073657 | SMARCA4 | c.4392C>G (p.Asp1464Glu) c.4296C>G (p.Asp1432Glu) c.4197C>G (p.Asp1399Glu) c.463C>G c.423C>G (p.Asp141Glu) c.237C>G (p.Asp79Glu) n.2537C>G c.2790C>G (p.Asp930Glu) c.1753C>G c.4293C>G (p.Asp1431Glu) c.2853C>G (p.Asp951Glu) c.4206C>G (p.Asp1402Glu) c.2581C>G c.4302C>G (p.Asp1434Glu) c.2660C>G n.789C>G c.3719C>G c.2933C>G c.2968C>G c.2950C>G c.2784C>G (p.Asp928Glu) c.845C>G c.2207C>G (n.2207C>G) c.2639C>G c.2144C>G (n.2144C>G) c.2596C>G n.799C>G c.2550C>G (p.Asp850Glu) c.4398C>G (p.Asp1466Glu) n.610C>G n.2734C>G n.2269C>G c.375C>G (p.Asp125Glu) n.2119C>G c.4305C>G (p.Asp1435Glu) n.4686C>G | dbSNP |
| 19 | g.11041432C>T | CA505743866 | SMARCA4 | c.4392C>T (p.Asp1464=) c.4296C>T (p.Asp1432=) c.4197C>T (p.Asp1399=) c.463C>T c.423C>T (p.Asp141=) c.237C>T (p.Asp79=) n.2537C>T c.2790C>T (p.Asp930=) c.1753C>T c.4293C>T (p.Asp1431=) c.2853C>T (p.Asp951=) c.4206C>T (p.Asp1402=) c.2581C>T c.4302C>T (p.Asp1434=) c.2660C>T n.789C>T c.3719C>T c.2933C>T c.2968C>T c.2950C>T c.2784C>T (p.Asp928=) c.845C>T c.2207C>T (n.2207C>T) c.2639C>T c.2144C>T (n.2144C>T) c.2596C>T n.799C>T c.2550C>T (p.Asp850=) c.4398C>T (p.Asp1466=) n.610C>T n.2734C>T n.2269C>T c.375C>T (p.Asp125=) n.2119C>T c.4305C>T (p.Asp1435=) n.4686C>T | dbSNP |
| 19 | g.11041433A= | CA2322734999 | SMARCA4 | c.4393A= (p.Lys1465=) c.4297A= (p.Lys1433=) c.4198A= (p.Lys1400=) c.464A= c.424A= (p.Lys142=) c.238A= (p.Lys80=) n.2538A= c.2791A= (p.Lys931=) c.1754A= c.4294A= (p.Lys1432=) c.2854A= (p.Lys952=) c.4207A= (p.Lys1403=) c.2582A= c.4303A= (p.Lys1435=) c.2661A= n.790A= c.3720A= c.2934A= c.2969A= c.2951A= c.2785A= (p.Lys929=) c.846A= c.2208A= (n.2208A=) c.2640A= c.2145A= (n.2145A=) c.2597A= n.800A= c.2551A= (p.Lys851=) c.4399A= (p.Lys1467=) n.611A= n.2735A= n.2270A= c.376A= (p.Lys126=) n.2120A= c.4306A= (p.Lys1436=) n.4687A= | |
| 19 | g.11041433A>C | CA404073660 | SMARCA4 | c.4393A>C (p.Lys1465Gln) c.4297A>C (p.Lys1433Gln) c.4198A>C (p.Lys1400Gln) c.464A>C c.424A>C (p.Lys142Gln) c.238A>C (p.Lys80Gln) n.2538A>C c.2791A>C (p.Lys931Gln) c.1754A>C c.4294A>C (p.Lys1432Gln) c.2854A>C (p.Lys952Gln) c.4207A>C (p.Lys1403Gln) c.2582A>C c.4303A>C (p.Lys1435Gln) c.2661A>C n.790A>C c.3720A>C c.2934A>C c.2969A>C c.2951A>C c.2785A>C (p.Lys929Gln) c.846A>C c.2208A>C (n.2208A>C) c.2640A>C c.2145A>C (n.2145A>C) c.2597A>C n.800A>C c.2551A>C (p.Lys851Gln) c.4399A>C (p.Lys1467Gln) n.611A>C n.2735A>C n.2270A>C c.376A>C (p.Lys126Gln) n.2120A>C c.4306A>C (p.Lys1436Gln) n.4687A>C | gnomAD v4 |
| 19 | g.11041433A>G | CA9204696 | SMARCA4 | c.4393A>G (p.Lys1465Glu) c.4297A>G (p.Lys1433Glu) c.4198A>G (p.Lys1400Glu) c.464A>G c.424A>G (p.Lys142Glu) c.238A>G (p.Lys80Glu) n.2538A>G c.2791A>G (p.Lys931Glu) c.1754A>G c.4294A>G (p.Lys1432Glu) c.2854A>G (p.Lys952Glu) c.4207A>G (p.Lys1403Glu) c.2582A>G c.4303A>G (p.Lys1435Glu) c.2661A>G n.790A>G c.3720A>G c.2934A>G c.2969A>G c.2951A>G c.2785A>G (p.Lys929Glu) c.846A>G c.2208A>G (n.2208A>G) c.2640A>G c.2145A>G (n.2145A>G) c.2597A>G n.800A>G c.2551A>G (p.Lys851Glu) c.4399A>G (p.Lys1467Glu) n.611A>G n.2735A>G n.2270A>G c.376A>G (p.Lys126Glu) n.2120A>G c.4306A>G (p.Lys1436Glu) n.4687A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.11041433A>T | CA404073666 | SMARCA4 | c.4393A>T (p.Lys1465Ter) c.4297A>T (p.Lys1433Ter) c.4198A>T (p.Lys1400Ter) c.464A>T c.424A>T (p.Lys142Ter) c.238A>T (p.Lys80Ter) n.2538A>T c.2791A>T (p.Lys931Ter) c.1754A>T c.4294A>T (p.Lys1432Ter) c.2854A>T (p.Lys952Ter) c.4207A>T (p.Lys1403Ter) c.2582A>T c.4303A>T (p.Lys1435Ter) c.2661A>T n.790A>T c.3720A>T c.2934A>T c.2969A>T c.2951A>T c.2785A>T (p.Lys929Ter) c.846A>T c.2208A>T (n.2208A>T) c.2640A>T c.2145A>T (n.2145A>T) c.2597A>T n.800A>T c.2551A>T (p.Lys851Ter) c.4399A>T (p.Lys1467Ter) n.611A>T n.2735A>T n.2270A>T c.376A>T (p.Lys126Ter) n.2120A>T c.4306A>T (p.Lys1436Ter) n.4687A>T | dbSNP |
| 19 | g.11041434A= | CA2322735001 | SMARCA4 | c.4394A= (p.Lys1465=) c.4298A= (p.Lys1433=) c.4199A= (p.Lys1400=) c.465A= c.425A= (p.Lys142=) c.239A= (p.Lys80=) n.2539A= c.2792A= (p.Lys931=) c.1755A= c.4295A= (p.Lys1432=) c.2855A= (p.Lys952=) c.4208A= (p.Lys1403=) c.2583A= c.4304A= (p.Lys1435=) c.2662A= n.791A= c.3721A= c.2935A= c.2970A= c.2952A= c.2786A= (p.Lys929=) c.847A= c.2209A= (n.2209A=) c.2641A= c.2146A= (n.2146A=) c.2598A= n.801A= c.2552A= (p.Lys851=) c.4400A= (p.Lys1467=) n.612A= n.2736A= n.2271A= c.377A= (p.Lys126=) n.2121A= c.4307A= (p.Lys1436=) n.4688A= | |
| 19 | g.11041434A>C | CA404073668 | SMARCA4 | c.4394A>C (p.Lys1465Thr) c.4298A>C (p.Lys1433Thr) c.4199A>C (p.Lys1400Thr) c.465A>C c.425A>C (p.Lys142Thr) c.239A>C (p.Lys80Thr) n.2539A>C c.2792A>C (p.Lys931Thr) c.1755A>C c.4295A>C (p.Lys1432Thr) c.2855A>C (p.Lys952Thr) c.4208A>C (p.Lys1403Thr) c.2583A>C c.4304A>C (p.Lys1435Thr) c.2662A>C n.791A>C c.3721A>C c.2935A>C c.2970A>C c.2952A>C c.2786A>C (p.Lys929Thr) c.847A>C c.2209A>C (n.2209A>C) c.2641A>C c.2146A>C (n.2146A>C) c.2598A>C n.801A>C c.2552A>C (p.Lys851Thr) c.4400A>C (p.Lys1467Thr) n.612A>C n.2736A>C n.2271A>C c.377A>C (p.Lys126Thr) n.2121A>C c.4307A>C (p.Lys1436Thr) n.4688A>C | |
| 19 | g.11041434A>G | CA404073670 | SMARCA4 | c.4394A>G (p.Lys1465Arg) c.4298A>G (p.Lys1433Arg) c.4199A>G (p.Lys1400Arg) c.465A>G c.425A>G (p.Lys142Arg) c.239A>G (p.Lys80Arg) n.2539A>G c.2792A>G (p.Lys931Arg) c.1755A>G c.4295A>G (p.Lys1432Arg) c.2855A>G (p.Lys952Arg) c.4208A>G (p.Lys1403Arg) c.2583A>G c.4304A>G (p.Lys1435Arg) c.2662A>G n.791A>G c.3721A>G c.2935A>G c.2970A>G c.2952A>G c.2786A>G (p.Lys929Arg) c.847A>G c.2209A>G (n.2209A>G) c.2641A>G c.2146A>G (n.2146A>G) c.2598A>G n.801A>G c.2552A>G (p.Lys851Arg) c.4400A>G (p.Lys1467Arg) n.612A>G n.2736A>G n.2271A>G c.377A>G (p.Lys126Arg) n.2121A>G c.4307A>G (p.Lys1436Arg) n.4688A>G | ClinVar dbSNP |
| 19 | g.11041434A>T | CA404073671 | SMARCA4 | c.4394A>T (p.Lys1465Met) c.4298A>T (p.Lys1433Met) c.4199A>T (p.Lys1400Met) c.465A>T c.425A>T (p.Lys142Met) c.239A>T (p.Lys80Met) n.2539A>T c.2792A>T (p.Lys931Met) c.1755A>T c.4295A>T (p.Lys1432Met) c.2855A>T (p.Lys952Met) c.4208A>T (p.Lys1403Met) c.2583A>T c.4304A>T (p.Lys1435Met) c.2662A>T n.791A>T c.3721A>T c.2935A>T c.2970A>T c.2952A>T c.2786A>T (p.Lys929Met) c.847A>T c.2209A>T (n.2209A>T) c.2641A>T c.2146A>T (n.2146A>T) c.2598A>T n.801A>T c.2552A>T (p.Lys851Met) c.4400A>T (p.Lys1467Met) n.612A>T n.2736A>T n.2271A>T c.377A>T (p.Lys126Met) n.2121A>T c.4307A>T (p.Lys1436Met) n.4688A>T | dbSNP gnomAD v2 |
| 19 | g.11041435G>A | CA505743868 | SMARCA4 | c.4395G>A (p.Lys1465=) c.4299G>A (p.Lys1433=) c.4200G>A (p.Lys1400=) c.466G>A c.426G>A (p.Lys142=) c.240G>A (p.Lys80=) n.2540G>A c.2793G>A (p.Lys931=) c.1756G>A c.4296G>A (p.Lys1432=) c.2856G>A (p.Lys952=) c.4209G>A (p.Lys1403=) c.2584G>A c.4305G>A (p.Lys1435=) c.2663G>A n.792G>A c.3722G>A c.2936G>A c.2971G>A c.2953G>A c.2787G>A (p.Lys929=) c.848G>A c.2210G>A (n.2210G>A) c.2642G>A c.2147G>A (n.2147G>A) c.2599G>A n.802G>A c.2553G>A (p.Lys851=) c.4401G>A (p.Lys1467=) n.613G>A n.2737G>A n.2272G>A c.378G>A (p.Lys126=) n.2122G>A c.4308G>A (p.Lys1436=) n.4689G>A | |
| 19 | g.11041435G>C | CA404073675 | SMARCA4 | c.4395G>C (p.Lys1465Asn) c.4299G>C (p.Lys1433Asn) c.4200G>C (p.Lys1400Asn) c.466G>C c.426G>C (p.Lys142Asn) c.240G>C (p.Lys80Asn) n.2540G>C c.2793G>C (p.Lys931Asn) c.1756G>C c.4296G>C (p.Lys1432Asn) c.2856G>C (p.Lys952Asn) c.4209G>C (p.Lys1403Asn) c.2584G>C c.4305G>C (p.Lys1435Asn) c.2663G>C n.792G>C c.3722G>C c.2936G>C c.2971G>C c.2953G>C c.2787G>C (p.Lys929Asn) c.848G>C c.2210G>C (n.2210G>C) c.2642G>C c.2147G>C (n.2147G>C) c.2599G>C n.802G>C c.2553G>C (p.Lys851Asn) c.4401G>C (p.Lys1467Asn) n.613G>C n.2737G>C n.2272G>C c.378G>C (p.Lys126Asn) n.2122G>C c.4308G>C (p.Lys1436Asn) n.4689G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.11041435G= | CA2322735007 | SMARCA4 | c.4395G= (p.Lys1465=) c.4299G= (p.Lys1433=) c.4200G= (p.Lys1400=) c.466G= c.426G= (p.Lys142=) c.240G= (p.Lys80=) n.2540G= c.2793G= (p.Lys931=) c.1756G= c.4296G= (p.Lys1432=) c.2856G= (p.Lys952=) c.4209G= (p.Lys1403=) c.2584G= c.4305G= (p.Lys1435=) c.2663G= n.792G= c.3722G= c.2936G= c.2971G= c.2953G= c.2787G= (p.Lys929=) c.848G= c.2210G= (n.2210G=) c.2642G= c.2147G= (n.2147G=) c.2599G= n.802G= c.2553G= (p.Lys851=) c.4401G= (p.Lys1467=) n.613G= n.2737G= n.2272G= c.378G= (p.Lys126=) n.2122G= c.4308G= (p.Lys1436=) n.4689G= | |
| 19 | g.11041435G>T | CA404073678 | SMARCA4 | c.4395G>T (p.Lys1465Asn) c.4299G>T (p.Lys1433Asn) c.4200G>T (p.Lys1400Asn) c.466G>T c.426G>T (p.Lys142Asn) c.240G>T (p.Lys80Asn) n.2540G>T c.2793G>T (p.Lys931Asn) c.1756G>T c.4296G>T (p.Lys1432Asn) c.2856G>T (p.Lys952Asn) c.4209G>T (p.Lys1403Asn) c.2584G>T c.4305G>T (p.Lys1435Asn) c.2663G>T n.792G>T c.3722G>T c.2936G>T c.2971G>T c.2953G>T c.2787G>T (p.Lys929Asn) c.848G>T c.2210G>T (n.2210G>T) c.2642G>T c.2147G>T (n.2147G>T) c.2599G>T n.802G>T c.2553G>T (p.Lys851Asn) c.4401G>T (p.Lys1467Asn) n.613G>T n.2737G>T n.2272G>T c.378G>T (p.Lys126Asn) n.2122G>T c.4308G>T (p.Lys1436Asn) n.4689G>T | ClinVar dbSNP |
| 19 | g.11041435_11041438delinsGGAC | CA2322735006 | SMARCA4 | c.4395_4398delinsGGAC (p.Lys1465=) c.4299_4302delinsGGAC (p.Lys1433=) c.4200_4203delinsGGAC (p.Lys1400=) c.466_469delinsGGAC c.426_429delinsGGAC (p.Lys142=) c.240_243delinsGGAC (p.Lys80=) n.2540_2543delinsGGAC c.2793_2796delinsGGAC (p.Lys931=) c.1756_1759delinsGGAC c.4296_4299delinsGGAC (p.Lys1432=) c.2856_2859delinsGGAC (p.Lys952=) c.4209_4212delinsGGAC (p.Lys1403=) c.2584_2587delinsGGAC c.4305_4308delinsGGAC (p.Lys1435=) c.2663_2666delinsGGAC n.792_795delinsGGAC c.3722_3725delinsGGAC c.2936_2939delinsGGAC c.2971_2974delinsGGAC c.2953_2956delinsGGAC c.2787_2790delinsGGAC (p.Lys929=) c.848_851delinsGGAC c.2210_2213delinsGGAC (n.2210_2213delinsGGAC) c.2642_2645delinsGGAC c.2147_2150delinsGGAC (n.2147_2150delinsGGAC) c.2599_2602delinsGGAC n.802_805delinsGGAC c.2553_2556delinsGGAC (p.Lys851=) c.4401_4404delinsGGAC (p.Lys1467=) n.613_616delinsGGAC n.2737_2740delinsGGAC n.2272_2275delinsGGAC c.378_381delinsGGAC (p.Lys126=) n.2122_2125delinsGGAC c.4308_4311delinsGGAC (p.Lys1436=) n.4689_4692delinsGGAC | |
| 19 | g.11041436G>A | CA9204697 | SMARCA4 | c.4396G>A (p.Asp1466Asn) c.4300G>A (p.Asp1434Asn) c.4201G>A (p.Asp1401Asn) c.467G>A c.427G>A (p.Asp143Asn) c.241G>A (p.Asp81Asn) n.2541G>A c.2794G>A (p.Asp932Asn) c.1757G>A c.4297G>A (p.Asp1433Asn) c.2857G>A (p.Asp953Asn) c.4210G>A (p.Asp1404Asn) c.2585G>A c.4306G>A (p.Asp1436Asn) c.2664G>A n.793G>A c.3723G>A c.2937G>A c.2972G>A c.2954G>A c.2788G>A (p.Asp930Asn) c.849G>A c.2211G>A (n.2211G>A) c.2643G>A c.2148G>A (n.2148G>A) c.2600G>A n.803G>A c.2554G>A (p.Asp852Asn) c.4402G>A (p.Asp1468Asn) n.614G>A n.2738G>A n.2273G>A c.379G>A (p.Asp127Asn) n.2123G>A c.4309G>A (p.Asp1437Asn) n.4690G>A | ClinVar dbSNP ExAC gnomAD v4 |
| 19 | g.11041436G>C | CA404073688 | SMARCA4 | c.4396G>C (p.Asp1466His) c.4300G>C (p.Asp1434His) c.4201G>C (p.Asp1401His) c.467G>C c.427G>C (p.Asp143His) c.241G>C (p.Asp81His) n.2541G>C c.2794G>C (p.Asp932His) c.1757G>C c.4297G>C (p.Asp1433His) c.2857G>C (p.Asp953His) c.4210G>C (p.Asp1404His) c.2585G>C c.4306G>C (p.Asp1436His) c.2664G>C n.793G>C c.3723G>C c.2937G>C c.2972G>C c.2954G>C c.2788G>C (p.Asp930His) c.849G>C c.2211G>C (n.2211G>C) c.2643G>C c.2148G>C (n.2148G>C) c.2600G>C n.803G>C c.2554G>C (p.Asp852His) c.4402G>C (p.Asp1468His) n.614G>C n.2738G>C n.2273G>C c.379G>C (p.Asp127His) n.2123G>C c.4309G>C (p.Asp1437His) n.4690G>C | dbSNP |
| 19 | g.11041436G= | CA2322735011 | SMARCA4 | c.4396G= (p.Asp1466=) c.4300G= (p.Asp1434=) c.4201G= (p.Asp1401=) c.467G= c.427G= (p.Asp143=) c.241G= (p.Asp81=) n.2541G= c.2794G= (p.Asp932=) c.1757G= c.4297G= (p.Asp1433=) c.2857G= (p.Asp953=) c.4210G= (p.Asp1404=) c.2585G= c.4306G= (p.Asp1436=) c.2664G= n.793G= c.3723G= c.2937G= c.2972G= c.2954G= c.2788G= (p.Asp930=) c.849G= c.2211G= (n.2211G=) c.2643G= c.2148G= (n.2148G=) c.2600G= n.803G= c.2554G= (p.Asp852=) c.4402G= (p.Asp1468=) n.614G= n.2738G= n.2273G= c.379G= (p.Asp127=) n.2123G= c.4309G= (p.Asp1437=) n.4690G= | |
| 19 | g.11041436G>T | CA404073691 | SMARCA4 | c.4396G>T (p.Asp1466Tyr) c.4300G>T (p.Asp1434Tyr) c.4201G>T (p.Asp1401Tyr) c.467G>T c.427G>T (p.Asp143Tyr) c.241G>T (p.Asp81Tyr) n.2541G>T c.2794G>T (p.Asp932Tyr) c.1757G>T c.4297G>T (p.Asp1433Tyr) c.2857G>T (p.Asp953Tyr) c.4210G>T (p.Asp1404Tyr) c.2585G>T c.4306G>T (p.Asp1436Tyr) c.2664G>T n.793G>T c.3723G>T c.2937G>T c.2972G>T c.2954G>T c.2788G>T (p.Asp930Tyr) c.849G>T c.2211G>T (n.2211G>T) c.2643G>T c.2148G>T (n.2148G>T) c.2600G>T n.803G>T c.2554G>T (p.Asp852Tyr) c.4402G>T (p.Asp1468Tyr) n.614G>T n.2738G>T n.2273G>T c.379G>T (p.Asp127Tyr) n.2123G>T c.4309G>T (p.Asp1437Tyr) n.4690G>T | |
| 19 | g.11041441_11041443del | CA2322735010 | SMARCA4 | c.4401_4403del (p.Asp1467del) c.4305_4307del (p.Asp1435del) c.4206_4208del (p.Asp1402del) c.472_474del c.432_434del (p.Asp144del) c.246_248del (p.Asp82del) n.2546_2548del c.2799_2801del (p.Asp933del) c.1762_1764del c.4302_4304del (p.Asp1434del) c.2862_2864del (p.Asp954del) c.4215_4217del (p.Asp1405del) c.2590_2592del c.4311_4313del (p.Asp1437del) c.2669_2671del n.798_800del c.3728_3730del c.2942_2944del c.2977_2979del c.2959_2961del c.2793_2795del (p.Asp931del) c.854_856del c.2216_2218del (n.2216_2218del) c.2648_2650del c.2153_2155del (n.2153_2155del) c.2605_2607del n.808_810del c.2559_2561del (p.Asp853del) c.4407_4409del (p.Asp1469del) n.619_621del n.2743_2745del n.2278_2280del c.384_386del (p.Asp128del) n.2128_2130del c.4314_4316del (p.Asp1438del) n.4695_4697del | ClinVar dbSNP gnomAD v4 |
| 19 | g.11041437A= | CA2322735014 | SMARCA4 | c.4397A= (p.Asp1466=) c.4301A= (p.Asp1434=) c.4202A= (p.Asp1401=) c.468A= c.428A= (p.Asp143=) c.242A= (p.Asp81=) n.2542A= c.2795A= (p.Asp932=) c.1758A= c.4298A= (p.Asp1433=) c.2858A= (p.Asp953=) c.4211A= (p.Asp1404=) c.2586A= c.4307A= (p.Asp1436=) c.2665A= n.794A= c.3724A= c.2938A= c.2973A= c.2955A= c.2789A= (p.Asp930=) c.850A= c.2212A= (n.2212A=) c.2644A= c.2149A= (n.2149A=) c.2601A= n.804A= c.2555A= (p.Asp852=) c.4403A= (p.Asp1468=) n.615A= n.2739A= n.2274A= c.380A= (p.Asp127=) n.2124A= c.4310A= (p.Asp1437=) n.4691A= | |
| 19 | g.11041437A>C | CA404073699 | SMARCA4 | c.4397A>C (p.Asp1466Ala) c.4301A>C (p.Asp1434Ala) c.4202A>C (p.Asp1401Ala) c.468A>C c.428A>C (p.Asp143Ala) c.242A>C (p.Asp81Ala) n.2542A>C c.2795A>C (p.Asp932Ala) c.1758A>C c.4298A>C (p.Asp1433Ala) c.2858A>C (p.Asp953Ala) c.4211A>C (p.Asp1404Ala) c.2586A>C c.4307A>C (p.Asp1436Ala) c.2665A>C n.794A>C c.3724A>C c.2938A>C c.2973A>C c.2955A>C c.2789A>C (p.Asp930Ala) c.850A>C c.2212A>C (n.2212A>C) c.2644A>C c.2149A>C (n.2149A>C) c.2601A>C n.804A>C c.2555A>C (p.Asp852Ala) c.4403A>C (p.Asp1468Ala) n.615A>C n.2739A>C n.2274A>C c.380A>C (p.Asp127Ala) n.2124A>C c.4310A>C (p.Asp1437Ala) n.4691A>C | |
| 19 | g.11041437A>G | CA9204698 | SMARCA4 | c.4397A>G (p.Asp1466Gly) c.4301A>G (p.Asp1434Gly) c.4202A>G (p.Asp1401Gly) c.468A>G c.428A>G (p.Asp143Gly) c.242A>G (p.Asp81Gly) n.2542A>G c.2795A>G (p.Asp932Gly) c.1758A>G c.4298A>G (p.Asp1433Gly) c.2858A>G (p.Asp953Gly) c.4211A>G (p.Asp1404Gly) c.2586A>G c.4307A>G (p.Asp1436Gly) c.2665A>G n.794A>G c.3724A>G c.2938A>G c.2973A>G c.2955A>G c.2789A>G (p.Asp930Gly) c.850A>G c.2212A>G (n.2212A>G) c.2644A>G c.2149A>G (n.2149A>G) c.2601A>G n.804A>G c.2555A>G (p.Asp852Gly) c.4403A>G (p.Asp1468Gly) n.615A>G n.2739A>G n.2274A>G c.380A>G (p.Asp127Gly) n.2124A>G c.4310A>G (p.Asp1437Gly) n.4691A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.11041437A>T | CA404073695 | SMARCA4 | c.4397A>T (p.Asp1466Val) c.4301A>T (p.Asp1434Val) c.4202A>T (p.Asp1401Val) c.468A>T c.428A>T (p.Asp143Val) c.242A>T (p.Asp81Val) n.2542A>T c.2795A>T (p.Asp932Val) c.1758A>T c.4298A>T (p.Asp1433Val) c.2858A>T (p.Asp953Val) c.4211A>T (p.Asp1404Val) c.2586A>T c.4307A>T (p.Asp1436Val) c.2665A>T n.794A>T c.3724A>T c.2938A>T c.2973A>T c.2955A>T c.2789A>T (p.Asp930Val) c.850A>T c.2212A>T (n.2212A>T) c.2644A>T c.2149A>T (n.2149A>T) c.2601A>T n.804A>T c.2555A>T (p.Asp852Val) c.4403A>T (p.Asp1468Val) n.615A>T n.2739A>T n.2274A>T c.380A>T (p.Asp127Val) n.2124A>T c.4310A>T (p.Asp1437Val) n.4691A>T |