UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.157148762_157148769del | CA645557766 | ARID1B | c.2900_2907del (p.Gly967AlafsTer?) c.2810_2817del (p.Gly937AlafsTer?) c.914_921del (p.Gly305AlafsTer?) c.2939_2946del (p.Gly980AlafsTer?) c.2651_2658del (p.Gly884AlafsTer?) c.1058_1065del (p.Gly353AlafsTer?) n.801_808del c.221_228del (p.Gly74AlafsTer?) n.34_41del c.139_146del c.401_408del (p.Gly134AlafsTer?) c.2690_2697del (p.Gly897AlafsTer?) n.1649_1656del c.917_924del (p.Gly306AlafsTer?) n.747_754del c.1601_1608del (p.Gly534AlafsTer?) c.1421_1428del (p.Gly474AlafsTer?) c.1181_1188del (p.Gly394AlafsTer?) c.800_807del (p.Gly267AlafsTer?) c.-20+15555_-20+15562del (n.-20+15555_-20+15562del) c.2732_2739del (p.Gly911AlafsTer?) c.2552_2559del (p.Gly851AlafsTer?) n.2815_2822del | COSMIC COSMIC |
| 6 | g.157148764C>A | CA452990148 | ARID1B | c.2902C>A (p.Arg968=) c.2812C>A (p.Arg938=) c.916C>A (p.Arg306=) c.2941C>A (p.Arg981=) c.2653C>A (p.Arg885=) c.1060C>A (p.Arg354=) n.803C>A c.223C>A (p.Arg75=) n.36C>A c.141C>A c.403C>A (p.Arg135=) c.2692C>A (p.Arg898=) n.1651C>A c.919C>A (p.Arg307=) n.749C>A c.1603C>A (p.Arg535=) c.1423C>A (p.Arg475=) c.1183C>A (p.Arg395=) c.802C>A (p.Arg268=) c.-20+15557C>A (n.-20+15557C>A) c.2734C>A (p.Arg912=) c.2554C>A (p.Arg852=) n.2817C>A | dbSNP |
| 6 | g.157148764C= | CA1675517009 | ARID1B | c.2902C= (p.Arg968=) c.2812C= (p.Arg938=) c.916C= (p.Arg306=) c.2941C= (p.Arg981=) c.2653C= (p.Arg885=) c.1060C= (p.Arg354=) n.803C= c.223C= (p.Arg75=) n.36C= c.141C= c.403C= (p.Arg135=) c.2692C= (p.Arg898=) n.1651C= c.919C= (p.Arg307=) n.749C= c.1603C= (p.Arg535=) c.1423C= (p.Arg475=) c.1183C= (p.Arg395=) c.802C= (p.Arg268=) c.-20+15557C= (n.-20+15557C=) c.2734C= (p.Arg912=) c.2554C= (p.Arg852=) n.2817C= | |
| 6 | g.157148764C>G | CA366388904 | ARID1B | c.2902C>G (p.Arg968Gly) c.2812C>G (p.Arg938Gly) c.916C>G (p.Arg306Gly) c.2941C>G (p.Arg981Gly) c.2653C>G (p.Arg885Gly) c.1060C>G (p.Arg354Gly) n.803C>G c.223C>G (p.Arg75Gly) n.36C>G c.141C>G c.403C>G (p.Arg135Gly) c.2692C>G (p.Arg898Gly) n.1651C>G c.919C>G (p.Arg307Gly) n.749C>G c.1603C>G (p.Arg535Gly) c.1423C>G (p.Arg475Gly) c.1183C>G (p.Arg395Gly) c.802C>G (p.Arg268Gly) c.-20+15557C>G (n.-20+15557C>G) c.2734C>G (p.Arg912Gly) c.2554C>G (p.Arg852Gly) n.2817C>G | dbSNP gnomAD v4 |
| 6 | g.157148764C>T | CA203785 | ARID1B | c.2902C>T (p.Arg968Ter) c.2812C>T (p.Arg938Ter) c.916C>T (p.Arg306Ter) c.2941C>T (p.Arg981Ter) c.2653C>T (p.Arg885Ter) c.1060C>T (p.Arg354Ter) n.803C>T c.223C>T (p.Arg75Ter) n.36C>T c.141C>T c.403C>T (p.Arg135Ter) c.2692C>T (p.Arg898Ter) n.1651C>T c.919C>T (p.Arg307Ter) n.749C>T c.1603C>T (p.Arg535Ter) c.1423C>T (p.Arg475Ter) c.1183C>T (p.Arg395Ter) c.802C>T (p.Arg268Ter) c.-20+15557C>T (n.-20+15557C>T) c.2734C>T (p.Arg912Ter) c.2554C>T (p.Arg852Ter) n.2817C>T | ClinVar dbSNP |
| 6 | g.157148765G>A | CA150846252 | ARID1B | c.2903G>A (p.Arg968Gln) c.2813G>A (p.Arg938Gln) c.917G>A (p.Arg306Gln) c.2942G>A (p.Arg981Gln) c.2654G>A (p.Arg885Gln) c.1061G>A (p.Arg354Gln) n.804G>A c.224G>A (p.Arg75Gln) n.37G>A c.142G>A c.404G>A (p.Arg135Gln) c.2693G>A (p.Arg898Gln) n.1652G>A c.920G>A (p.Arg307Gln) n.750G>A c.1604G>A (p.Arg535Gln) c.1424G>A (p.Arg475Gln) c.1184G>A (p.Arg395Gln) c.803G>A (p.Arg268Gln) c.-20+15558G>A (n.-20+15558G>A) c.2735G>A (p.Arg912Gln) c.2555G>A (p.Arg852Gln) n.2818G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 6 | g.157148765G>C | CA366388906 | ARID1B | c.2903G>C (p.Arg968Pro) c.2813G>C (p.Arg938Pro) c.917G>C (p.Arg306Pro) c.2942G>C (p.Arg981Pro) c.2654G>C (p.Arg885Pro) c.1061G>C (p.Arg354Pro) n.804G>C c.224G>C (p.Arg75Pro) n.37G>C c.142G>C c.404G>C (p.Arg135Pro) c.2693G>C (p.Arg898Pro) n.1652G>C c.920G>C (p.Arg307Pro) n.750G>C c.1604G>C (p.Arg535Pro) c.1424G>C (p.Arg475Pro) c.1184G>C (p.Arg395Pro) c.803G>C (p.Arg268Pro) c.-20+15558G>C (n.-20+15558G>C) c.2735G>C (p.Arg912Pro) c.2555G>C (p.Arg852Pro) n.2818G>C | |
| 6 | g.157148765G= | CA1675517010 | ARID1B | c.2903G= (p.Arg968=) c.2813G= (p.Arg938=) c.917G= (p.Arg306=) c.2942G= (p.Arg981=) c.2654G= (p.Arg885=) c.1061G= (p.Arg354=) n.804G= c.224G= (p.Arg75=) n.37G= c.142G= c.404G= (p.Arg135=) c.2693G= (p.Arg898=) n.1652G= c.920G= (p.Arg307=) n.750G= c.1604G= (p.Arg535=) c.1424G= (p.Arg475=) c.1184G= (p.Arg395=) c.803G= (p.Arg268=) c.-20+15558G= (n.-20+15558G=) c.2735G= (p.Arg912=) c.2555G= (p.Arg852=) n.2818G= | |
| 6 | g.157148765G>T | CA366388905 | ARID1B | c.2903G>T (p.Arg968Leu) c.2813G>T (p.Arg938Leu) c.917G>T (p.Arg306Leu) c.2942G>T (p.Arg981Leu) c.2654G>T (p.Arg885Leu) c.1061G>T (p.Arg354Leu) n.804G>T c.224G>T (p.Arg75Leu) n.37G>T c.142G>T c.404G>T (p.Arg135Leu) c.2693G>T (p.Arg898Leu) n.1652G>T c.920G>T (p.Arg307Leu) n.750G>T c.1604G>T (p.Arg535Leu) c.1424G>T (p.Arg475Leu) c.1184G>T (p.Arg395Leu) c.803G>T (p.Arg268Leu) c.-20+15558G>T (n.-20+15558G>T) c.2735G>T (p.Arg912Leu) c.2555G>T (p.Arg852Leu) n.2818G>T | |
| 6 | g.157148766A>C | CA452990152 | ARID1B | c.2904A>C (p.Arg968=) c.2814A>C (p.Arg938=) c.918A>C (p.Arg306=) c.2943A>C (p.Arg981=) c.2655A>C (p.Arg885=) c.1062A>C (p.Arg354=) n.805A>C c.225A>C (p.Arg75=) n.38A>C c.143A>C c.405A>C (p.Arg135=) c.2694A>C (p.Arg898=) n.1653A>C c.921A>C (p.Arg307=) n.751A>C c.1605A>C (p.Arg535=) c.1425A>C (p.Arg475=) c.1185A>C (p.Arg395=) c.804A>C (p.Arg268=) c.-20+15559A>C (n.-20+15559A>C) c.2736A>C (p.Arg912=) c.2556A>C (p.Arg852=) n.2819A>C | |
| 6 | g.157148766A>G | CA452990153 | ARID1B | c.2904A>G (p.Arg968=) c.2814A>G (p.Arg938=) c.918A>G (p.Arg306=) c.2943A>G (p.Arg981=) c.2655A>G (p.Arg885=) c.1062A>G (p.Arg354=) n.805A>G c.225A>G (p.Arg75=) n.38A>G c.143A>G c.405A>G (p.Arg135=) c.2694A>G (p.Arg898=) n.1653A>G c.921A>G (p.Arg307=) n.751A>G c.1605A>G (p.Arg535=) c.1425A>G (p.Arg475=) c.1185A>G (p.Arg395=) c.804A>G (p.Arg268=) c.-20+15559A>G (n.-20+15559A>G) c.2736A>G (p.Arg912=) c.2556A>G (p.Arg852=) n.2819A>G | |
| 6 | g.157148766A>T | CA452990154 | ARID1B | c.2904A>T (p.Arg968=) c.2814A>T (p.Arg938=) c.918A>T (p.Arg306=) c.2943A>T (p.Arg981=) c.2655A>T (p.Arg885=) c.1062A>T (p.Arg354=) n.805A>T c.225A>T (p.Arg75=) n.38A>T c.143A>T c.405A>T (p.Arg135=) c.2694A>T (p.Arg898=) n.1653A>T c.921A>T (p.Arg307=) n.751A>T c.1605A>T (p.Arg535=) c.1425A>T (p.Arg475=) c.1185A>T (p.Arg395=) c.804A>T (p.Arg268=) c.-20+15559A>T (n.-20+15559A>T) c.2736A>T (p.Arg912=) c.2556A>T (p.Arg852=) n.2819A>T | |
| 6 | g.157148767A= | CA1675517011 | ARID1B | c.2905A= (p.Met969=) c.2815A= (p.Met939=) c.919A= (p.Met307=) c.2944A= (p.Met982=) c.2656A= (p.Met886=) c.1063A= (p.Met355=) n.806A= c.226A= (p.Met76=) n.39A= c.144A= c.406A= (p.Met136=) c.2695A= (p.Met899=) n.1654A= c.922A= (p.Met308=) n.752A= c.1606A= (p.Met536=) c.1426A= (p.Met476=) c.1186A= (p.Met396=) c.805A= (p.Met269=) c.-20+15560A= (n.-20+15560A=) c.2737A= (p.Met913=) c.2557A= (p.Met853=) n.2820A= | |
| 6 | g.157148767A>C | CA366388907 | ARID1B | c.2905A>C (p.Met969Leu) c.2815A>C (p.Met939Leu) c.919A>C (p.Met307Leu) c.2944A>C (p.Met982Leu) c.2656A>C (p.Met886Leu) c.1063A>C (p.Met355Leu) n.806A>C c.226A>C (p.Met76Leu) n.39A>C c.144A>C c.406A>C (p.Met136Leu) c.2695A>C (p.Met899Leu) n.1654A>C c.922A>C (p.Met308Leu) n.752A>C c.1606A>C (p.Met536Leu) c.1426A>C (p.Met476Leu) c.1186A>C (p.Met396Leu) c.805A>C (p.Met269Leu) c.-20+15560A>C (n.-20+15560A>C) c.2737A>C (p.Met913Leu) c.2557A>C (p.Met853Leu) n.2820A>C | |
| 6 | g.157148767A>G | CA366388908 | ARID1B | c.2905A>G (p.Met969Val) c.2815A>G (p.Met939Val) c.919A>G (p.Met307Val) c.2944A>G (p.Met982Val) c.2656A>G (p.Met886Val) c.1063A>G (p.Met355Val) n.806A>G c.226A>G (p.Met76Val) n.39A>G c.144A>G c.406A>G (p.Met136Val) c.2695A>G (p.Met899Val) n.1654A>G c.922A>G (p.Met308Val) n.752A>G c.1606A>G (p.Met536Val) c.1426A>G (p.Met476Val) c.1186A>G (p.Met396Val) c.805A>G (p.Met269Val) c.-20+15560A>G (n.-20+15560A>G) c.2737A>G (p.Met913Val) c.2557A>G (p.Met853Val) n.2820A>G | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.157148767A>T | CA4067163 | ARID1B | c.2905A>T (p.Met969Leu) c.2815A>T (p.Met939Leu) c.919A>T (p.Met307Leu) c.2944A>T (p.Met982Leu) c.2656A>T (p.Met886Leu) c.1063A>T (p.Met355Leu) n.806A>T c.226A>T (p.Met76Leu) n.39A>T c.144A>T c.406A>T (p.Met136Leu) c.2695A>T (p.Met899Leu) n.1654A>T c.922A>T (p.Met308Leu) n.752A>T c.1606A>T (p.Met536Leu) c.1426A>T (p.Met476Leu) c.1186A>T (p.Met396Leu) c.805A>T (p.Met269Leu) c.-20+15560A>T (n.-20+15560A>T) c.2737A>T (p.Met913Leu) c.2557A>T (p.Met853Leu) n.2820A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.157148768T>A | CA366388909 | ARID1B | c.2906T>A (p.Met969Lys) c.2816T>A (p.Met939Lys) c.920T>A (p.Met307Lys) c.2945T>A (p.Met982Lys) c.2657T>A (p.Met886Lys) c.1064T>A (p.Met355Lys) n.807T>A c.227T>A (p.Met76Lys) n.40T>A c.145T>A c.407T>A (p.Met136Lys) c.2696T>A (p.Met899Lys) n.1655T>A c.923T>A (p.Met308Lys) n.753T>A c.1607T>A (p.Met536Lys) c.1427T>A (p.Met476Lys) c.1187T>A (p.Met396Lys) c.806T>A (p.Met269Lys) c.-20+15561T>A (n.-20+15561T>A) c.2738T>A (p.Met913Lys) c.2558T>A (p.Met853Lys) n.2821T>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.157148768T>C | CA366388910 | ARID1B | c.2906T>C (p.Met969Thr) c.2816T>C (p.Met939Thr) c.920T>C (p.Met307Thr) c.2945T>C (p.Met982Thr) c.2657T>C (p.Met886Thr) c.1064T>C (p.Met355Thr) n.807T>C c.227T>C (p.Met76Thr) n.40T>C c.145T>C c.407T>C (p.Met136Thr) c.2696T>C (p.Met899Thr) n.1655T>C c.923T>C (p.Met308Thr) n.753T>C c.1607T>C (p.Met536Thr) c.1427T>C (p.Met476Thr) c.1187T>C (p.Met396Thr) c.806T>C (p.Met269Thr) c.-20+15561T>C (n.-20+15561T>C) c.2738T>C (p.Met913Thr) c.2558T>C (p.Met853Thr) n.2821T>C | |
| 6 | g.157148768T>G | CA366388911 | ARID1B | c.2906T>G (p.Met969Arg) c.2816T>G (p.Met939Arg) c.920T>G (p.Met307Arg) c.2945T>G (p.Met982Arg) c.2657T>G (p.Met886Arg) c.1064T>G (p.Met355Arg) n.807T>G c.227T>G (p.Met76Arg) n.40T>G c.145T>G c.407T>G (p.Met136Arg) c.2696T>G (p.Met899Arg) n.1655T>G c.923T>G (p.Met308Arg) n.753T>G c.1607T>G (p.Met536Arg) c.1427T>G (p.Met476Arg) c.1187T>G (p.Met396Arg) c.806T>G (p.Met269Arg) c.-20+15561T>G (n.-20+15561T>G) c.2738T>G (p.Met913Arg) c.2558T>G (p.Met853Arg) n.2821T>G | |
| 6 | g.157148768T= | CA1675517012 | ARID1B | c.2906T= (p.Met969=) c.2816T= (p.Met939=) c.920T= (p.Met307=) c.2945T= (p.Met982=) c.2657T= (p.Met886=) c.1064T= (p.Met355=) n.807T= c.227T= (p.Met76=) n.40T= c.145T= c.407T= (p.Met136=) c.2696T= (p.Met899=) n.1655T= c.923T= (p.Met308=) n.753T= c.1607T= (p.Met536=) c.1427T= (p.Met476=) c.1187T= (p.Met396=) c.806T= (p.Met269=) c.-20+15561T= (n.-20+15561T=) c.2738T= (p.Met913=) c.2558T= (p.Met853=) n.2821T= | |
| 6 | g.157148769G>A | CA16609727 | ARID1B | c.2907G>A (p.Met969Ile) c.2817G>A (p.Met939Ile) c.921G>A (p.Met307Ile) c.2946G>A (p.Met982Ile) c.2658G>A (p.Met886Ile) c.1065G>A (p.Met355Ile) n.808G>A c.228G>A (p.Met76Ile) n.41G>A c.146G>A c.408G>A (p.Met136Ile) c.2697G>A (p.Met899Ile) n.1656G>A c.924G>A (p.Met308Ile) n.754G>A c.1608G>A (p.Met536Ile) c.1428G>A (p.Met476Ile) c.1188G>A (p.Met396Ile) c.807G>A (p.Met269Ile) c.-20+15562G>A (n.-20+15562G>A) c.2739G>A (p.Met913Ile) c.2559G>A (p.Met853Ile) n.2822G>A | ClinVar dbSNP gnomAD v4 |
| 6 | g.157148769G>C | CA366388912 | ARID1B | c.2907G>C (p.Met969Ile) c.2817G>C (p.Met939Ile) c.921G>C (p.Met307Ile) c.2946G>C (p.Met982Ile) c.2658G>C (p.Met886Ile) c.1065G>C (p.Met355Ile) n.808G>C c.228G>C (p.Met76Ile) n.41G>C c.146G>C c.408G>C (p.Met136Ile) c.2697G>C (p.Met899Ile) n.1656G>C c.924G>C (p.Met308Ile) n.754G>C c.1608G>C (p.Met536Ile) c.1428G>C (p.Met476Ile) c.1188G>C (p.Met396Ile) c.807G>C (p.Met269Ile) c.-20+15562G>C (n.-20+15562G>C) c.2739G>C (p.Met913Ile) c.2559G>C (p.Met853Ile) n.2822G>C | |
| 6 | g.157148769G= | CA1675517013 | ARID1B | c.2907G= (p.Met969=) c.2817G= (p.Met939=) c.921G= (p.Met307=) c.2946G= (p.Met982=) c.2658G= (p.Met886=) c.1065G= (p.Met355=) n.808G= c.228G= (p.Met76=) n.41G= c.146G= c.408G= (p.Met136=) c.2697G= (p.Met899=) n.1656G= c.924G= (p.Met308=) n.754G= c.1608G= (p.Met536=) c.1428G= (p.Met476=) c.1188G= (p.Met396=) c.807G= (p.Met269=) c.-20+15562G= (n.-20+15562G=) c.2739G= (p.Met913=) c.2559G= (p.Met853=) n.2822G= | |
| 6 | g.157148769G>T | CA366388913 | ARID1B | c.2907G>T (p.Met969Ile) c.2817G>T (p.Met939Ile) c.921G>T (p.Met307Ile) c.2946G>T (p.Met982Ile) c.2658G>T (p.Met886Ile) c.1065G>T (p.Met355Ile) n.808G>T c.228G>T (p.Met76Ile) n.41G>T c.146G>T c.408G>T (p.Met136Ile) c.2697G>T (p.Met899Ile) n.1656G>T c.924G>T (p.Met308Ile) n.754G>T c.1608G>T (p.Met536Ile) c.1428G>T (p.Met476Ile) c.1188G>T (p.Met396Ile) c.807G>T (p.Met269Ile) c.-20+15562G>T (n.-20+15562G>T) c.2739G>T (p.Met913Ile) c.2559G>T (p.Met853Ile) n.2822G>T | |
| 6 | g.157148770C>A | CA366388914 | ARID1B | c.2908C>A (p.Pro970Thr) c.2818C>A (p.Pro940Thr) c.922C>A (p.Pro308Thr) c.2947C>A (p.Pro983Thr) c.2659C>A (p.Pro887Thr) c.1066C>A (p.Pro356Thr) n.809C>A c.229C>A (p.Pro77Thr) n.42C>A c.147C>A c.409C>A (p.Pro137Thr) c.2698C>A (p.Pro900Thr) n.1657C>A c.925C>A (p.Pro309Thr) n.755C>A c.1609C>A (p.Pro537Thr) c.1429C>A (p.Pro477Thr) c.1189C>A (p.Pro397Thr) c.808C>A (p.Pro270Thr) c.-20+15563C>A (n.-20+15563C>A) c.2740C>A (p.Pro914Thr) c.2560C>A (p.Pro854Thr) n.2823C>A | |
| 6 | g.157148770C>G | CA366388915 | ARID1B | c.2908C>G (p.Pro970Ala) c.2818C>G (p.Pro940Ala) c.922C>G (p.Pro308Ala) c.2947C>G (p.Pro983Ala) c.2659C>G (p.Pro887Ala) c.1066C>G (p.Pro356Ala) n.809C>G c.229C>G (p.Pro77Ala) n.42C>G c.147C>G c.409C>G (p.Pro137Ala) c.2698C>G (p.Pro900Ala) n.1657C>G c.925C>G (p.Pro309Ala) n.755C>G c.1609C>G (p.Pro537Ala) c.1429C>G (p.Pro477Ala) c.1189C>G (p.Pro397Ala) c.808C>G (p.Pro270Ala) c.-20+15563C>G (n.-20+15563C>G) c.2740C>G (p.Pro914Ala) c.2560C>G (p.Pro854Ala) n.2823C>G | |
| 6 | g.157148770C>T | CA366388916 | ARID1B | c.2908C>T (p.Pro970Ser) c.2818C>T (p.Pro940Ser) c.922C>T (p.Pro308Ser) c.2947C>T (p.Pro983Ser) c.2659C>T (p.Pro887Ser) c.1066C>T (p.Pro356Ser) n.809C>T c.229C>T (p.Pro77Ser) n.42C>T c.147C>T c.409C>T (p.Pro137Ser) c.2698C>T (p.Pro900Ser) n.1657C>T c.925C>T (p.Pro309Ser) n.755C>T c.1609C>T (p.Pro537Ser) c.1429C>T (p.Pro477Ser) c.1189C>T (p.Pro397Ser) c.808C>T (p.Pro270Ser) c.-20+15563C>T (n.-20+15563C>T) c.2740C>T (p.Pro914Ser) c.2560C>T (p.Pro854Ser) n.2823C>T | |
| 6 | g.157148771C>A | CA366388918 | ARID1B | c.2909C>A (p.Pro970Gln) c.2819C>A (p.Pro940Gln) c.923C>A (p.Pro308Gln) c.2948C>A (p.Pro983Gln) c.2660C>A (p.Pro887Gln) c.1067C>A (p.Pro356Gln) n.810C>A c.230C>A (p.Pro77Gln) n.43C>A c.148C>A c.410C>A (p.Pro137Gln) c.2699C>A (p.Pro900Gln) n.1658C>A c.926C>A (p.Pro309Gln) n.756C>A c.1610C>A (p.Pro537Gln) c.1430C>A (p.Pro477Gln) c.1190C>A (p.Pro397Gln) c.809C>A (p.Pro270Gln) c.-20+15564C>A (n.-20+15564C>A) c.2741C>A (p.Pro914Gln) c.2561C>A (p.Pro854Gln) n.2824C>A | |
| 6 | g.157148771C= | CA1675517014 | ARID1B | c.2909C= (p.Pro970=) c.2819C= (p.Pro940=) c.923C= (p.Pro308=) c.2948C= (p.Pro983=) c.2660C= (p.Pro887=) c.1067C= (p.Pro356=) n.810C= c.230C= (p.Pro77=) n.43C= c.148C= c.410C= (p.Pro137=) c.2699C= (p.Pro900=) n.1658C= c.926C= (p.Pro309=) n.756C= c.1610C= (p.Pro537=) c.1430C= (p.Pro477=) c.1190C= (p.Pro397=) c.809C= (p.Pro270=) c.-20+15564C= (n.-20+15564C=) c.2741C= (p.Pro914=) c.2561C= (p.Pro854=) n.2824C= | |
| 6 | g.157148771C>G | CA366388917 | ARID1B | c.2909C>G (p.Pro970Arg) c.2819C>G (p.Pro940Arg) c.923C>G (p.Pro308Arg) c.2948C>G (p.Pro983Arg) c.2660C>G (p.Pro887Arg) c.1067C>G (p.Pro356Arg) n.810C>G c.230C>G (p.Pro77Arg) n.43C>G c.148C>G c.410C>G (p.Pro137Arg) c.2699C>G (p.Pro900Arg) n.1658C>G c.926C>G (p.Pro309Arg) n.756C>G c.1610C>G (p.Pro537Arg) c.1430C>G (p.Pro477Arg) c.1190C>G (p.Pro397Arg) c.809C>G (p.Pro270Arg) c.-20+15564C>G (n.-20+15564C>G) c.2741C>G (p.Pro914Arg) c.2561C>G (p.Pro854Arg) n.2824C>G | |
| 6 | g.157148771C>T | CA16605061 | ARID1B | c.2909C>T (p.Pro970Leu) c.2819C>T (p.Pro940Leu) c.923C>T (p.Pro308Leu) c.2948C>T (p.Pro983Leu) c.2660C>T (p.Pro887Leu) c.1067C>T (p.Pro356Leu) n.810C>T c.230C>T (p.Pro77Leu) n.43C>T c.148C>T c.410C>T (p.Pro137Leu) c.2699C>T (p.Pro900Leu) n.1658C>T c.926C>T (p.Pro309Leu) n.756C>T c.1610C>T (p.Pro537Leu) c.1430C>T (p.Pro477Leu) c.1190C>T (p.Pro397Leu) c.809C>T (p.Pro270Leu) c.-20+15564C>T (n.-20+15564C>T) c.2741C>T (p.Pro914Leu) c.2561C>T (p.Pro854Leu) n.2824C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.157148772A= | CA1675517015 | ARID1B | c.2910A= (p.Pro970=) c.2820A= (p.Pro940=) c.924A= (p.Pro308=) c.2949A= (p.Pro983=) c.2661A= (p.Pro887=) c.1068A= (p.Pro356=) n.811A= c.231A= (p.Pro77=) n.44A= c.149A= c.411A= (p.Pro137=) c.2700A= (p.Pro900=) n.1659A= c.927A= (p.Pro309=) n.757A= c.1611A= (p.Pro537=) c.1431A= (p.Pro477=) c.1191A= (p.Pro397=) c.810A= (p.Pro270=) c.-20+15565A= (n.-20+15565A=) c.2742A= (p.Pro914=) c.2562A= (p.Pro854=) n.2825A= | |
| 6 | g.157148772A>C | CA452990161 | ARID1B | c.2910A>C (p.Pro970=) c.2820A>C (p.Pro940=) c.924A>C (p.Pro308=) c.2949A>C (p.Pro983=) c.2661A>C (p.Pro887=) c.1068A>C (p.Pro356=) n.811A>C c.231A>C (p.Pro77=) n.44A>C c.149A>C c.411A>C (p.Pro137=) c.2700A>C (p.Pro900=) n.1659A>C c.927A>C (p.Pro309=) n.757A>C c.1611A>C (p.Pro537=) c.1431A>C (p.Pro477=) c.1191A>C (p.Pro397=) c.810A>C (p.Pro270=) c.-20+15565A>C (n.-20+15565A>C) c.2742A>C (p.Pro914=) c.2562A>C (p.Pro854=) n.2825A>C | |
| 6 | g.157148772A>G | CA452990162 | ARID1B | c.2910A>G (p.Pro970=) c.2820A>G (p.Pro940=) c.924A>G (p.Pro308=) c.2949A>G (p.Pro983=) c.2661A>G (p.Pro887=) c.1068A>G (p.Pro356=) n.811A>G c.231A>G (p.Pro77=) n.44A>G c.149A>G c.411A>G (p.Pro137=) c.2700A>G (p.Pro900=) n.1659A>G c.927A>G (p.Pro309=) n.757A>G c.1611A>G (p.Pro537=) c.1431A>G (p.Pro477=) c.1191A>G (p.Pro397=) c.810A>G (p.Pro270=) c.-20+15565A>G (n.-20+15565A>G) c.2742A>G (p.Pro914=) c.2562A>G (p.Pro854=) n.2825A>G | dbSNP gnomAD v4 |
| 6 | g.157148772A>T | CA452990163 | ARID1B | c.2910A>T (p.Pro970=) c.2820A>T (p.Pro940=) c.924A>T (p.Pro308=) c.2949A>T (p.Pro983=) c.2661A>T (p.Pro887=) c.1068A>T (p.Pro356=) n.811A>T c.231A>T (p.Pro77=) n.44A>T c.149A>T c.411A>T (p.Pro137=) c.2700A>T (p.Pro900=) n.1659A>T c.927A>T (p.Pro309=) n.757A>T c.1611A>T (p.Pro537=) c.1431A>T (p.Pro477=) c.1191A>T (p.Pro397=) c.810A>T (p.Pro270=) c.-20+15565A>T (n.-20+15565A>T) c.2742A>T (p.Pro914=) c.2562A>T (p.Pro854=) n.2825A>T | |
| 6 | g.157148773T>A | CA366388919 | ARID1B | c.2911T>A (p.Ser971Thr) c.2821T>A (p.Ser941Thr) c.925T>A (p.Ser309Thr) c.2950T>A (p.Ser984Thr) c.2662T>A (p.Ser888Thr) c.1069T>A (p.Ser357Thr) n.812T>A c.232T>A (p.Ser78Thr) n.45T>A c.150T>A c.412T>A (p.Ser138Thr) c.2701T>A (p.Ser901Thr) n.1660T>A c.928T>A (p.Ser310Thr) n.758T>A c.1612T>A (p.Ser538Thr) c.1432T>A (p.Ser478Thr) c.1192T>A (p.Ser398Thr) c.811T>A (p.Ser271Thr) c.-20+15566T>A (n.-20+15566T>A) c.2743T>A (p.Ser915Thr) c.2563T>A (p.Ser855Thr) n.2826T>A | |
| 6 | g.157148773T>C | CA366388920 | ARID1B | c.2911T>C (p.Ser971Pro) c.2821T>C (p.Ser941Pro) c.925T>C (p.Ser309Pro) c.2950T>C (p.Ser984Pro) c.2662T>C (p.Ser888Pro) c.1069T>C (p.Ser357Pro) n.812T>C c.232T>C (p.Ser78Pro) n.45T>C c.150T>C c.412T>C (p.Ser138Pro) c.2701T>C (p.Ser901Pro) n.1660T>C c.928T>C (p.Ser310Pro) n.758T>C c.1612T>C (p.Ser538Pro) c.1432T>C (p.Ser478Pro) c.1192T>C (p.Ser398Pro) c.811T>C (p.Ser271Pro) c.-20+15566T>C (n.-20+15566T>C) c.2743T>C (p.Ser915Pro) c.2563T>C (p.Ser855Pro) n.2826T>C | |
| 6 | g.157148773T>G | CA366388921 | ARID1B | c.2911T>G (p.Ser971Ala) c.2821T>G (p.Ser941Ala) c.925T>G (p.Ser309Ala) c.2950T>G (p.Ser984Ala) c.2662T>G (p.Ser888Ala) c.1069T>G (p.Ser357Ala) n.812T>G c.232T>G (p.Ser78Ala) n.45T>G c.150T>G c.412T>G (p.Ser138Ala) c.2701T>G (p.Ser901Ala) n.1660T>G c.928T>G (p.Ser310Ala) n.758T>G c.1612T>G (p.Ser538Ala) c.1432T>G (p.Ser478Ala) c.1192T>G (p.Ser398Ala) c.811T>G (p.Ser271Ala) c.-20+15566T>G (n.-20+15566T>G) c.2743T>G (p.Ser915Ala) c.2563T>G (p.Ser855Ala) n.2826T>G | |
| 6 | g.157148774C>A | CA366388922 | ARID1B | c.2912C>A (p.Ser971Ter) c.2822C>A (p.Ser941Ter) c.926C>A (p.Ser309Ter) c.2951C>A (p.Ser984Ter) c.2663C>A (p.Ser888Ter) c.1070C>A (p.Ser357Ter) n.813C>A c.233C>A (p.Ser78Ter) n.46C>A c.151C>A c.413C>A (p.Ser138Ter) c.2702C>A (p.Ser901Ter) n.1661C>A c.929C>A (p.Ser310Ter) n.759C>A c.1613C>A (p.Ser538Ter) c.1433C>A (p.Ser478Ter) c.1193C>A (p.Ser398Ter) c.812C>A (p.Ser271Ter) c.-20+15567C>A (n.-20+15567C>A) c.2744C>A (p.Ser915Ter) c.2564C>A (p.Ser855Ter) n.2827C>A | ClinVar dbSNP |
| 6 | g.157148774C>G | CA366388923 | ARID1B | c.2912C>G (p.Ser971Ter) c.2822C>G (p.Ser941Ter) c.926C>G (p.Ser309Ter) c.2951C>G (p.Ser984Ter) c.2663C>G (p.Ser888Ter) c.1070C>G (p.Ser357Ter) n.813C>G c.233C>G (p.Ser78Ter) n.46C>G c.151C>G c.413C>G (p.Ser138Ter) c.2702C>G (p.Ser901Ter) n.1661C>G c.929C>G (p.Ser310Ter) n.759C>G c.1613C>G (p.Ser538Ter) c.1433C>G (p.Ser478Ter) c.1193C>G (p.Ser398Ter) c.812C>G (p.Ser271Ter) c.-20+15567C>G (n.-20+15567C>G) c.2744C>G (p.Ser915Ter) c.2564C>G (p.Ser855Ter) n.2827C>G | |
| 6 | g.157148774C>T | CA366388924 | ARID1B | c.2912C>T (p.Ser971Leu) c.2822C>T (p.Ser941Leu) c.926C>T (p.Ser309Leu) c.2951C>T (p.Ser984Leu) c.2663C>T (p.Ser888Leu) c.1070C>T (p.Ser357Leu) n.813C>T c.233C>T (p.Ser78Leu) n.46C>T c.151C>T c.413C>T (p.Ser138Leu) c.2702C>T (p.Ser901Leu) n.1661C>T c.929C>T (p.Ser310Leu) n.759C>T c.1613C>T (p.Ser538Leu) c.1433C>T (p.Ser478Leu) c.1193C>T (p.Ser398Leu) c.812C>T (p.Ser271Leu) c.-20+15567C>T (n.-20+15567C>T) c.2744C>T (p.Ser915Leu) c.2564C>T (p.Ser855Leu) n.2827C>T | |
| 6 | g.157148775A>C | CA452990168 | ARID1B | c.2913A>C (p.Ser971=) c.2823A>C (p.Ser941=) c.927A>C (p.Ser309=) c.2952A>C (p.Ser984=) c.2664A>C (p.Ser888=) c.1071A>C (p.Ser357=) n.814A>C c.234A>C (p.Ser78=) n.47A>C c.152A>C c.414A>C (p.Ser138=) c.2703A>C (p.Ser901=) n.1662A>C c.930A>C (p.Ser310=) n.760A>C c.1614A>C (p.Ser538=) c.1434A>C (p.Ser478=) c.1194A>C (p.Ser398=) c.813A>C (p.Ser271=) c.-20+15568A>C (n.-20+15568A>C) c.2745A>C (p.Ser915=) c.2565A>C (p.Ser855=) n.2828A>C | |
| 6 | g.157148775A>G | CA452990171 | ARID1B | c.2913A>G (p.Ser971=) c.2823A>G (p.Ser941=) c.927A>G (p.Ser309=) c.2952A>G (p.Ser984=) c.2664A>G (p.Ser888=) c.1071A>G (p.Ser357=) n.814A>G c.234A>G (p.Ser78=) n.47A>G c.152A>G c.414A>G (p.Ser138=) c.2703A>G (p.Ser901=) n.1662A>G c.930A>G (p.Ser310=) n.760A>G c.1614A>G (p.Ser538=) c.1434A>G (p.Ser478=) c.1194A>G (p.Ser398=) c.813A>G (p.Ser271=) c.-20+15568A>G (n.-20+15568A>G) c.2745A>G (p.Ser915=) c.2565A>G (p.Ser855=) n.2828A>G | |
| 6 | g.157148775A>T | CA452990172 | ARID1B | c.2913A>T (p.Ser971=) c.2823A>T (p.Ser941=) c.927A>T (p.Ser309=) c.2952A>T (p.Ser984=) c.2664A>T (p.Ser888=) c.1071A>T (p.Ser357=) n.814A>T c.234A>T (p.Ser78=) n.47A>T c.152A>T c.414A>T (p.Ser138=) c.2703A>T (p.Ser901=) n.1662A>T c.930A>T (p.Ser310=) n.760A>T c.1614A>T (p.Ser538=) c.1434A>T (p.Ser478=) c.1194A>T (p.Ser398=) c.813A>T (p.Ser271=) c.-20+15568A>T (n.-20+15568A>T) c.2745A>T (p.Ser915=) c.2565A>T (p.Ser855=) n.2828A>T | |
| 6 | g.157148776G>A | CA366388925 | ARID1B | c.2914G>A (p.Ala972Thr) c.2824G>A (p.Ala942Thr) c.928G>A (p.Ala310Thr) c.2953G>A (p.Ala985Thr) c.2665G>A (p.Ala889Thr) c.1072G>A (p.Ala358Thr) n.815G>A c.235G>A (p.Ala79Thr) n.48G>A c.153G>A c.415G>A (p.Ala139Thr) c.2704G>A (p.Ala902Thr) n.1663G>A c.931G>A (p.Ala311Thr) n.761G>A c.1615G>A (p.Ala539Thr) c.1435G>A (p.Ala479Thr) c.1195G>A (p.Ala399Thr) c.814G>A (p.Ala272Thr) c.-20+15569G>A (n.-20+15569G>A) c.2746G>A (p.Ala916Thr) c.2566G>A (p.Ala856Thr) n.2829G>A | dbSNP gnomAD v4 |
| 6 | g.157148776G>C | CA366388926 | ARID1B | c.2914G>C (p.Ala972Pro) c.2824G>C (p.Ala942Pro) c.928G>C (p.Ala310Pro) c.2953G>C (p.Ala985Pro) c.2665G>C (p.Ala889Pro) c.1072G>C (p.Ala358Pro) n.815G>C c.235G>C (p.Ala79Pro) n.48G>C c.153G>C c.415G>C (p.Ala139Pro) c.2704G>C (p.Ala902Pro) n.1663G>C c.931G>C (p.Ala311Pro) n.761G>C c.1615G>C (p.Ala539Pro) c.1435G>C (p.Ala479Pro) c.1195G>C (p.Ala399Pro) c.814G>C (p.Ala272Pro) c.-20+15569G>C (n.-20+15569G>C) c.2746G>C (p.Ala916Pro) c.2566G>C (p.Ala856Pro) n.2829G>C | dbSNP |
| 6 | g.157148776G= | CA1675517016 | ARID1B | c.2914G= (p.Ala972=) c.2824G= (p.Ala942=) c.928G= (p.Ala310=) c.2953G= (p.Ala985=) c.2665G= (p.Ala889=) c.1072G= (p.Ala358=) n.815G= c.235G= (p.Ala79=) n.48G= c.153G= c.415G= (p.Ala139=) c.2704G= (p.Ala902=) n.1663G= c.931G= (p.Ala311=) n.761G= c.1615G= (p.Ala539=) c.1435G= (p.Ala479=) c.1195G= (p.Ala399=) c.814G= (p.Ala272=) c.-20+15569G= (n.-20+15569G=) c.2746G= (p.Ala916=) c.2566G= (p.Ala856=) n.2829G= | |
| 6 | g.157148776G>T | CA366388927 | ARID1B | c.2914G>T (p.Ala972Ser) c.2824G>T (p.Ala942Ser) c.928G>T (p.Ala310Ser) c.2953G>T (p.Ala985Ser) c.2665G>T (p.Ala889Ser) c.1072G>T (p.Ala358Ser) n.815G>T c.235G>T (p.Ala79Ser) n.48G>T c.153G>T c.415G>T (p.Ala139Ser) c.2704G>T (p.Ala902Ser) n.1663G>T c.931G>T (p.Ala311Ser) n.761G>T c.1615G>T (p.Ala539Ser) c.1435G>T (p.Ala479Ser) c.1195G>T (p.Ala399Ser) c.814G>T (p.Ala272Ser) c.-20+15569G>T (n.-20+15569G>T) c.2746G>T (p.Ala916Ser) c.2566G>T (p.Ala856Ser) n.2829G>T | |
| 6 | g.157148777C>A | CA366388928 | ARID1B | c.2915C>A (p.Ala972Asp) c.2825C>A (p.Ala942Asp) c.929C>A (p.Ala310Asp) c.2954C>A (p.Ala985Asp) c.2666C>A (p.Ala889Asp) c.1073C>A (p.Ala358Asp) n.816C>A c.236C>A (p.Ala79Asp) n.49C>A c.154C>A c.416C>A (p.Ala139Asp) c.2705C>A (p.Ala902Asp) n.1664C>A c.932C>A (p.Ala311Asp) n.762C>A c.1616C>A (p.Ala539Asp) c.1436C>A (p.Ala479Asp) c.1196C>A (p.Ala399Asp) c.815C>A (p.Ala272Asp) c.-20+15570C>A (n.-20+15570C>A) c.2747C>A (p.Ala916Asp) c.2567C>A (p.Ala856Asp) n.2830C>A | dbSNP |
| 6 | g.157148777C>G | CA366388929 | ARID1B | c.2915C>G (p.Ala972Gly) c.2825C>G (p.Ala942Gly) c.929C>G (p.Ala310Gly) c.2954C>G (p.Ala985Gly) c.2666C>G (p.Ala889Gly) c.1073C>G (p.Ala358Gly) n.816C>G c.236C>G (p.Ala79Gly) n.49C>G c.154C>G c.416C>G (p.Ala139Gly) c.2705C>G (p.Ala902Gly) n.1664C>G c.932C>G (p.Ala311Gly) n.762C>G c.1616C>G (p.Ala539Gly) c.1436C>G (p.Ala479Gly) c.1196C>G (p.Ala399Gly) c.815C>G (p.Ala272Gly) c.-20+15570C>G (n.-20+15570C>G) c.2747C>G (p.Ala916Gly) c.2567C>G (p.Ala856Gly) n.2830C>G | dbSNP |