Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.178014267G>T | CA2662096188 | PDE11A | c.1071+35C>A (n.1071+35C>A) c.321+35C>A (n.321+35C>A) | gnomAD v4 |
2 | g.178014268A>G | CA2701260597 | PDE11A | c.1071+34T>C (n.1071+34T>C) c.321+34T>C (n.321+34T>C) | dbSNP |
2 | g.178014269A>G | CA2500793687 | PDE11A | c.1071+33T>C (n.1071+33T>C) c.321+33T>C (n.321+33T>C) | |
2 | g.178014272_178014274dup | CA2662096189 | PDE11A | c.1071+29_1071+31dup (n.1071+29_1071+31dup) c.321+29_321+31dup (n.321+29_321+31dup) | gnomAD v4 |
2 | g.178014272G>A | CA2701260647 | PDE11A | c.1071+30C>T (n.1071+30C>T) c.321+30C>T (n.321+30C>T) | dbSNP |
2 | g.178014272G>T | CA2662096190 | PDE11A | c.1071+30C>A (n.1071+30C>A) c.321+30C>A (n.321+30C>A) | gnomAD v4 |
2 | g.178014273T>A | CA61449343 | PDE11A | c.1071+29A>T (n.1071+29A>T) c.321+29A>T (n.321+29A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178014273T= | CA1310286787 | PDE11A | c.1071+29A= (n.1071+29A=) c.321+29A= (n.321+29A=) | |
2 | g.178014276_178014278del | CA2577168372 | PDE11A | c.1071+26_1071+28del (n.1071+26_1071+28del) c.321+26_321+28del (n.321+26_321+28del) | |
2 | g.178014275C>A | CA2662096191 | PDE11A | c.1071+27G>T (n.1071+27G>T) c.321+27G>T (n.321+27G>T) | gnomAD v4 |
2 | g.178014275C= | CA1310286788 | PDE11A | c.1071+27G= (n.1071+27G=) c.321+27G= (n.321+27G=) | |
2 | g.178014275C>G | CA538439755 | PDE11A | c.1071+27G>C (n.1071+27G>C) c.321+27G>C (n.321+27G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178014275C>T | CA2662096192 | PDE11A | c.1071+27G>A (n.1071+27G>A) c.321+27G>A (n.321+27G>A) | gnomAD v4 |
2 | g.178014277A>G | CA2662096193 | PDE11A | c.1071+25T>C (n.1071+25T>C) c.321+25T>C (n.321+25T>C) | gnomAD v4 |
2 | g.178014278C>A | CA1982133 | PDE11A | c.1071+24G>T (n.1071+24G>T) c.321+24G>T (n.321+24G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178014278C= | CA1310286789 | PDE11A | c.1071+24G= (n.1071+24G=) c.321+24G= (n.321+24G=) | |
2 | g.178014278C>T | CA1982132 | PDE11A | c.1071+24G>A (n.1071+24G>A) c.321+24G>A (n.321+24G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178014279T>C | CA2662096194 | PDE11A | c.1071+23A>G (n.1071+23A>G) c.321+23A>G (n.321+23A>G) | gnomAD v4 |
2 | g.178014279T>G | CA1982134 | PDE11A | c.1071+23A>C (n.1071+23A>C) c.321+23A>C (n.321+23A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178014279T= | CA1310286790 | PDE11A | c.1071+23A= (n.1071+23A=) c.321+23A= (n.321+23A=) | |
2 | g.178014282C>A | CA1039666595 | PDE11A | c.1071+20G>T (n.1071+20G>T) c.321+20G>T (n.321+20G>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.178014282C= | CA1310286791 | PDE11A | c.1071+20G= (n.1071+20G=) c.321+20G= (n.321+20G=) | |
2 | g.178014282C>T | CA61449344 | PDE11A | c.1071+20G>A (n.1071+20G>A) c.321+20G>A (n.321+20G>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.178014283A>C | CA2577168373 | PDE11A | c.1071+19T>G (n.1071+19T>G) c.321+19T>G (n.321+19T>G) | |
2 | g.178014283A>G | CA2662096195 | PDE11A | c.1071+19T>C (n.1071+19T>C) c.321+19T>C (n.321+19T>C) | gnomAD v4 |
2 | g.178014286del | CA2841593494 | PDE11A | c.1071+19del (n.1071+19del) c.321+19del (n.321+19del) | |
2 | g.178014284A>G | CA2577168374 | PDE11A | c.1071+18T>C (n.1071+18T>C) c.321+18T>C (n.321+18T>C) | |
2 | g.178014287G>A | CA1982135 | PDE11A | c.1071+15C>T (n.1071+15C>T) c.321+15C>T (n.321+15C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178014287G= | CA1310286792 | PDE11A | c.1071+15C= (n.1071+15C=) c.321+15C= (n.321+15C=) | |
2 | g.178014287G>T | CA2662096196 | PDE11A | c.1071+15C>A (n.1071+15C>A) c.321+15C>A (n.321+15C>A) | gnomAD v4 |
2 | g.178014288G>C | CA1982136 | PDE11A | c.1071+14C>G (n.1071+14C>G) c.321+14C>G (n.321+14C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178014288G= | CA1310286793 | PDE11A | c.1071+14C= (n.1071+14C=) c.321+14C= (n.321+14C=) | |
2 | g.178014288G>T | CA1982137 | PDE11A | c.1071+14C>A (n.1071+14C>A) c.321+14C>A (n.321+14C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178014289C= | CA1310286794 | PDE11A | c.1071+13G= (n.1071+13G=) c.321+13G= (n.321+13G=) | |
2 | g.178014289C>T | CA61449345 | PDE11A | c.1071+13G>A (n.1071+13G>A) c.321+13G>A (n.321+13G>A) | dbSNP |
2 | g.178014291T>A | CA2753323463 | PDE11A | c.1071+11A>T (n.1071+11A>T) c.321+11A>T (n.321+11A>T) | |
2 | g.178014291T>C | CA61449346 | PDE11A | c.1071+11A>G (n.1071+11A>G) c.321+11A>G (n.321+11A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178014291T= | CA1310286795 | PDE11A | c.1071+11A= (n.1071+11A=) c.321+11A= (n.321+11A=) | |
2 | g.178014292G>A | CA761235737 | PDE11A | c.1071+10C>T (n.1071+10C>T) c.321+10C>T (n.321+10C>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.178014292G= | CA1310286796 | PDE11A | c.1071+10C= (n.1071+10C=) c.321+10C= (n.321+10C=) | |
2 | g.178014292G>T | CA2662096197 | PDE11A | c.1071+10C>A (n.1071+10C>A) c.321+10C>A (n.321+10C>A) | gnomAD v4 |
2 | g.178014293A>G | CA2577168375 | PDE11A | c.1071+9T>C (n.1071+9T>C) c.321+9T>C (n.321+9T>C) | |
2 | g.178014298T>A | CA2662096198 | PDE11A | c.1071+4A>T (n.1071+4A>T) c.321+4A>T (n.321+4A>T) | gnomAD v4 |
2 | g.178014300A>C | CA349703679 | PDE11A | c.1071+2T>G (n.1071+2T>G) c.321+2T>G (n.321+2T>G) | |
2 | g.178014300A>G | CA349703680 | PDE11A | c.1071+2T>C (n.1071+2T>C) c.321+2T>C (n.321+2T>C) | |
2 | g.178014300A>T | CA349703681 | PDE11A | c.1071+2T>A (n.1071+2T>A) c.321+2T>A (n.321+2T>A) | |
2 | g.178014301C>A | CA349703682 | PDE11A | c.1071+1G>T (n.1071+1G>T) c.321+1G>T (n.321+1G>T) | |
2 | g.178014301C= | CA1310286797 | PDE11A | c.1071+1G= (n.1071+1G=) c.321+1G= (n.321+1G=) | |
2 | g.178014301C>G | CA349703683 | PDE11A | c.1071+1G>C (n.1071+1G>C) c.321+1G>C (n.321+1G>C) | |
2 | g.178014301C>T | CA349703684 | PDE11A | c.1071+1G>A (n.1071+1G>A) c.321+1G>A (n.321+1G>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.178014302T>A | CA349703685 | PDE11A | c.1071A>T (p.Lys357Asn) c.321A>T (p.Lys107Asn) | |
2 | g.178014302T>C | CA430205405 | PDE11A | c.1071A>G (p.Lys357=) c.321A>G (p.Lys107=) | |
2 | g.178014302T>G | CA349703686 | PDE11A | c.1071A>C (p.Lys357Asn) c.321A>C (p.Lys107Asn) | COSMIC COSMIC |
2 | g.178014303T>A | CA349703687 | PDE11A | c.1070A>T (p.Lys357Ile) c.320A>T (p.Lys107Ile) | |
2 | g.178014303T>C | CA349703688 | PDE11A | c.1070A>G (p.Lys357Arg) c.320A>G (p.Lys107Arg) | |
2 | g.178014303T>G | CA349703689 | PDE11A | c.1070A>C (p.Lys357Thr) c.320A>C (p.Lys107Thr) | |
2 | g.178014304T>A | CA349703690 | PDE11A | c.1069A>T (p.Lys357Ter) c.319A>T (p.Lys107Ter) | |
2 | g.178014304T>C | CA349703691 | PDE11A | c.1069A>G (p.Lys357Glu) c.319A>G (p.Lys107Glu) | |
2 | g.178014304T>G | CA349703692 | PDE11A | c.1069A>C (p.Lys357Gln) c.319A>C (p.Lys107Gln) | dbSNP gnomAD v4 |
2 | g.178014304T= | CA1310286798 | PDE11A | c.1069A= (p.Lys357=) c.319A= (p.Lys107=) | |
2 | g.178014305T>A | CA349703693 | PDE11A | c.1068A>T (p.Glu356Asp) c.318A>T (p.Glu106Asp) | |
2 | g.178014305T>C | CA430205406 | PDE11A | c.1068A>G (p.Glu356=) c.318A>G (p.Glu106=) | |
2 | g.178014305T>G | CA349703694 | PDE11A | c.1068A>C (p.Glu356Asp) c.318A>C (p.Glu106Asp) | |
2 | g.178014306T>A | CA1982138 | PDE11A | c.1067A>T (p.Glu356Val) c.317A>T (p.Glu106Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178014306T>C | CA349703695 | PDE11A | c.1067A>G (p.Glu356Gly) c.317A>G (p.Glu106Gly) | dbSNP |
2 | g.178014306T>G | CA349703696 | PDE11A | c.1067A>C (p.Glu356Ala) c.317A>C (p.Glu106Ala) | |
2 | g.178014306T= | CA1310286799 | PDE11A | c.1067A= (p.Glu356=) c.317A= (p.Glu106=) | |
2 | g.178014307C>A | CA349703697 | PDE11A | c.1066G>T (p.Glu356Ter) c.316G>T (p.Glu106Ter) | COSMIC COSMIC |
2 | g.178014307C= | CA1310286800 | PDE11A | c.1066G= (p.Glu356=) c.316G= (p.Glu106=) | |
2 | g.178014307C>G | CA349703698 | PDE11A | c.1066G>C (p.Glu356Gln) c.316G>C (p.Glu106Gln) | |
2 | g.178014307C>T | CA349703699 | PDE11A | c.1066G>A (p.Glu356Lys) c.316G>A (p.Glu106Lys) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.178014307dup | CA2577168376 | PDE11A | c.1066dup (p.Glu356GlyfsTer17) c.316dup (p.Glu106GlyfsTer17) | gnomAD v4 |
2 | g.178014308A>C | CA349703700 | PDE11A | c.1065T>G (p.Asp355Glu) c.315T>G (p.Asp105Glu) | |
2 | g.178014308A>G | CA430205407 | PDE11A | c.1065T>C (p.Asp355=) c.315T>C (p.Asp105=) | gnomAD v4 |
2 | g.178014308A>T | CA349703701 | PDE11A | c.1065T>A (p.Asp355Glu) c.315T>A (p.Asp105Glu) | |
2 | g.178014309T>A | CA349703702 | PDE11A | c.1064A>T (p.Asp355Val) c.314A>T (p.Asp105Val) | |
2 | g.178014309T>C | CA349703703 | PDE11A | c.1064A>G (p.Asp355Gly) c.314A>G (p.Asp105Gly) | |
2 | g.178014309T>G | CA349703704 | PDE11A | c.1064A>C (p.Asp355Ala) c.314A>C (p.Asp105Ala) | |
2 | g.178014310C>A | CA349703705 | PDE11A | c.1063G>T (p.Asp355Tyr) c.313G>T (p.Asp105Tyr) | |
2 | g.178014310C>G | CA349703706 | PDE11A | c.1063G>C (p.Asp355His) c.313G>C (p.Asp105His) | |
2 | g.178014310C>T | CA349703707 | PDE11A | c.1063G>A (p.Asp355Asn) c.313G>A (p.Asp105Asn) | |
2 | g.178014311A= | CA1310286801 | PDE11A | c.1062T= (p.Asp354=) c.312T= (p.Asp104=) | |
2 | g.178014311A>C | CA349703708 | PDE11A | c.1062T>G (p.Asp354Glu) c.312T>G (p.Asp104Glu) | |
2 | g.178014311A>G | CA430205408 | PDE11A | c.1062T>C (p.Asp354=) c.312T>C (p.Asp104=) | |
2 | g.178014311A>T | CA1982139 | PDE11A | c.1062T>A (p.Asp354Glu) c.312T>A (p.Asp104Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178014312T>A | CA349703709 | PDE11A | c.1061A>T (p.Asp354Val) c.311A>T (p.Asp104Val) | |
2 | g.178014312T>C | CA349703710 | PDE11A | c.1061A>G (p.Asp354Gly) c.311A>G (p.Asp104Gly) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.178014312T>G | CA349703711 | PDE11A | c.1061A>C (p.Asp354Ala) c.311A>C (p.Asp104Ala) | |
2 | g.178014312T= | CA1310286802 | PDE11A | c.1061A= (p.Asp354=) c.311A= (p.Asp104=) | |
2 | g.178014313C>A | CA349703714 | PDE11A | c.1060G>T (p.Asp354Tyr) c.310G>T (p.Asp104Tyr) | |
2 | g.178014313C>G | CA349703713 | PDE11A | c.1060G>C (p.Asp354His) c.310G>C (p.Asp104His) | |
2 | g.178014313C>T | CA349703712 | PDE11A | c.1060G>A (p.Asp354Asn) c.310G>A (p.Asp104Asn) | |
2 | g.178014314T>A | CA349703715 | PDE11A | c.1059A>T (p.Glu353Asp) c.309A>T (p.Glu103Asp) | |
2 | g.178014314T>C | CA430205409 | PDE11A | c.1059A>G (p.Glu353=) c.309A>G (p.Glu103=) | dbSNP |
2 | g.178014314T>G | CA349703716 | PDE11A | c.1059A>C (p.Glu353Asp) c.309A>C (p.Glu103Asp) | |
2 | g.178014314T= | CA1310286803 | PDE11A | c.1059A= (p.Glu353=) c.309A= (p.Glu103=) | |
2 | g.178014315T>A | CA349703717 | PDE11A | c.1058A>T (p.Glu353Val) c.308A>T (p.Glu103Val) | |
2 | g.178014315T>C | CA349703719 | PDE11A | c.1058A>G (p.Glu353Gly) c.308A>G (p.Glu103Gly) | |
2 | g.178014315T>G | CA349703718 | PDE11A | c.1058A>C (p.Glu353Ala) c.308A>C (p.Glu103Ala) | |
2 | g.178014316C>A | CA349703720 | PDE11A | c.1057G>T (p.Glu353Ter) c.307G>T (p.Glu103Ter) | |
2 | g.178014316C>G | CA349703722 | PDE11A | c.1057G>C (p.Glu353Gln) c.307G>C (p.Glu103Gln) | |
2 | g.178014316C>T | CA349703721 | PDE11A | c.1057G>A (p.Glu353Lys) c.307G>A (p.Glu103Lys) | |
2 | g.178014317A= | CA1310286804 | PDE11A | c.1056T= (p.Thr352=) c.306T= (p.Thr102=) | |
2 | g.178014317A>C | CA430205410 | PDE11A | c.1056T>G (p.Thr352=) c.306T>G (p.Thr102=) | |
2 | g.178014317A>G | CA430205411 | PDE11A | c.1056T>C (p.Thr352=) c.306T>C (p.Thr102=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.178014317A>T | CA430205412 | PDE11A | c.1056T>A (p.Thr352=) c.306T>A (p.Thr102=) | |
2 | g.178014318G>A | CA349703723 | PDE11A | c.1055C>T (p.Thr352Ile) c.305C>T (p.Thr102Ile) | |
2 | g.178014318G>C | CA349703725 | PDE11A | c.1055C>G (p.Thr352Ser) c.305C>G (p.Thr102Ser) | |
2 | g.178014318G>T | CA349703724 | PDE11A | c.1055C>A (p.Thr352Asn) c.305C>A (p.Thr102Asn) | |
2 | g.178014319T>A | CA349703726 | PDE11A | c.1054A>T (p.Thr352Ser) c.304A>T (p.Thr102Ser) | |
2 | g.178014319T>C | CA349703728 | PDE11A | c.1054A>G (p.Thr352Ala) c.304A>G (p.Thr102Ala) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.178014319T>G | CA349703727 | PDE11A | c.1054A>C (p.Thr352Pro) c.304A>C (p.Thr102Pro) | |
2 | g.178014319T= | CA1310286805 | PDE11A | c.1054A= (p.Thr352=) c.304A= (p.Thr102=) | |
2 | g.178014320A>C | CA349703729 | PDE11A | c.1053T>G (p.Phe351Leu) c.303T>G (p.Phe101Leu) | |
2 | g.178014320A>G | CA430205413 | PDE11A | c.1053T>C (p.Phe351=) c.303T>C (p.Phe101=) | |
2 | g.178014320A>T | CA349703730 | PDE11A | c.1053T>A (p.Phe351Leu) c.303T>A (p.Phe101Leu) | |
2 | g.178014321A>C | CA349703731 | PDE11A | c.1052T>G (p.Phe351Cys) c.302T>G (p.Phe101Cys) | |
2 | g.178014321A>G | CA349703732 | PDE11A | c.1052T>C (p.Phe351Ser) c.302T>C (p.Phe101Ser) | |
2 | g.178014321A>T | CA349703733 | PDE11A | c.1052T>A (p.Phe351Tyr) c.302T>A (p.Phe101Tyr) | |
2 | g.178014322A>C | CA349703734 | PDE11A | c.1051T>G (p.Phe351Val) c.301T>G (p.Phe101Val) | |
2 | g.178014322A>G | CA349703735 | PDE11A | c.1051T>C (p.Phe351Leu) c.301T>C (p.Phe101Leu) | |
2 | g.178014322A>T | CA349703736 | PDE11A | c.1051T>A (p.Phe351Ile) c.301T>A (p.Phe101Ile) | |
2 | g.178014323T>A | CA430205414 | PDE11A | c.1050A>T (p.Pro350=) c.300A>T (p.Pro100=) | |
2 | g.178014323T>C | CA430205415 | PDE11A | c.1050A>G (p.Pro350=) c.300A>G (p.Pro100=) | |
2 | g.178014323T>G | CA430205416 | PDE11A | c.1050A>C (p.Pro350=) c.300A>C (p.Pro100=) | |
2 | g.178014324G>A | CA349703737 | PDE11A | c.1049C>T (p.Pro350Leu) c.299C>T (p.Pro100Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.178014324G>C | CA349703738 | PDE11A | c.1049C>G (p.Pro350Arg) c.299C>G (p.Pro100Arg) | |
2 | g.178014324G= | CA1310286806 | PDE11A | c.1049C= (p.Pro350=) c.299C= (p.Pro100=) | |
2 | g.178014324G>T | CA349703739 | PDE11A | c.1049C>A (p.Pro350Gln) c.299C>A (p.Pro100Gln) | |
2 | g.178014325G>A | CA349703742 | PDE11A | c.1048C>T (p.Pro350Ser) c.298C>T (p.Pro100Ser) | gnomAD v4 |
2 | g.178014325G>C | CA349703740 | PDE11A | c.1048C>G (p.Pro350Ala) c.298C>G (p.Pro100Ala) | gnomAD v4 |
2 | g.178014325G>T | CA349703741 | PDE11A | c.1048C>A (p.Pro350Thr) c.298C>A (p.Pro100Thr) | |
2 | g.178014326A>C | CA430205417 | PDE11A | c.1047T>G (p.Ala349=) c.297T>G (p.Ala99=) | |
2 | g.178014326A>G | CA430205419 | PDE11A | c.1047T>C (p.Ala349=) c.297T>C (p.Ala99=) | |
2 | g.178014326A>T | CA430205418 | PDE11A | c.1047T>A (p.Ala349=) c.297T>A (p.Ala99=) | |
2 | g.178014327G>A | CA349703743 | PDE11A | c.1046C>T (p.Ala349Val) c.296C>T (p.Ala99Val) | gnomAD v4 |
2 | g.178014327G>C | CA349703744 | PDE11A | c.1046C>G (p.Ala349Gly) c.296C>G (p.Ala99Gly) | |
2 | g.178014327G>T | CA349703745 | PDE11A | c.1046C>A (p.Ala349Asp) c.296C>A (p.Ala99Asp) | COSMIC COSMIC |
2 | g.178014328C>A | CA349703746 | PDE11A | c.1045G>T (p.Ala349Ser) c.295G>T (p.Ala99Ser) | |
2 | g.178014328C= | CA1310286807 | PDE11A | c.1045G= (p.Ala349=) c.295G= (p.Ala99=) | |
2 | g.178014328C>G | CA349703747 | PDE11A | c.1045G>C (p.Ala349Pro) c.295G>C (p.Ala99Pro) | |
2 | g.178014328C>T | CA1982140 | PDE11A | c.1045G>A (p.Ala349Thr) c.295G>A (p.Ala99Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178014329T>A | CA61449347 | PDE11A | c.1044A>T (p.Gly348=) c.294A>T (p.Gly98=) | dbSNP |
2 | g.178014329T>C | CA430205420 | PDE11A | c.1044A>G (p.Gly348=) c.294A>G (p.Gly98=) | |
2 | g.178014329T>G | CA430205421 | PDE11A | c.1044A>C (p.Gly348=) c.294A>C (p.Gly98=) | |
2 | g.178014329T= | CA1310286808 | PDE11A | c.1044A= (p.Gly348=) c.294A= (p.Gly98=) | |
2 | g.178014330C>A | CA349703748 | PDE11A | c.1043G>T (p.Gly348Val) c.293G>T (p.Gly98Val) | |
2 | g.178014330C>G | CA349703749 | PDE11A | c.1043G>C (p.Gly348Ala) c.293G>C (p.Gly98Ala) | |
2 | g.178014330C>T | CA349703750 | PDE11A | c.1043G>A (p.Gly348Glu) c.293G>A (p.Gly98Glu) | |
2 | g.178014331C>A | CA349703753 | PDE11A | c.1042G>T (p.Gly348Ter) c.292G>T (p.Gly98Ter) | |
2 | g.178014331C>G | CA349703752 | PDE11A | c.1042G>C (p.Gly348Arg) c.292G>C (p.Gly98Arg) | |
2 | g.178014331C>T | CA349703751 | PDE11A | c.1042G>A (p.Gly348Arg) c.292G>A (p.Gly98Arg) | |
2 | g.178014332T>A | CA349703754 | PDE11A | c.1041A>T (p.Glu347Asp) c.291A>T (p.Glu97Asp) | |
2 | g.178014332T>C | CA430205422 | PDE11A | c.1041A>G (p.Glu347=) c.291A>G (p.Glu97=) | gnomAD v4 |
2 | g.178014332T>G | CA349703755 | PDE11A | c.1041A>C (p.Glu347Asp) c.291A>C (p.Glu97Asp) | |
2 | g.178014333_178014349del | CA2577168377 | PDE11A | c.1025_1041del (p.Ile342ArgfsTer6) c.275_291del (p.Ile92ArgfsTer6) | |
2 | g.178014333T>A | CA349703756 | PDE11A | c.1040A>T (p.Glu347Val) c.290A>T (p.Glu97Val) | gnomAD v4 |
2 | g.178014333T>C | CA349703757 | PDE11A | c.1040A>G (p.Glu347Gly) c.290A>G (p.Glu97Gly) | |
2 | g.178014333T>G | CA349703758 | PDE11A | c.1040A>C (p.Glu347Ala) c.290A>C (p.Glu97Ala) | |
2 | g.178014334C>A | CA349703759 | PDE11A | c.1039G>T (p.Glu347Ter) c.289G>T (p.Glu97Ter) | |
2 | g.178014334C>G | CA349703760 | PDE11A | c.1039G>C (p.Glu347Gln) c.289G>C (p.Glu97Gln) | |
2 | g.178014334C>T | CA349703761 | PDE11A | c.1039G>A (p.Glu347Lys) c.289G>A (p.Glu97Lys) | |
2 | g.178014335A>C | CA430205425 | PDE11A | c.1038T>G (p.Pro346=) c.288T>G (p.Pro96=) | |
2 | g.178014335A>G | CA430205424 | PDE11A | c.1038T>C (p.Pro346=) c.288T>C (p.Pro96=) | gnomAD v4 |
2 | g.178014335A>T | CA430205423 | PDE11A | c.1038T>A (p.Pro346=) c.288T>A (p.Pro96=) | |
2 | g.178014336G>A | CA349703762 | PDE11A | c.1037C>T (p.Pro346Leu) c.287C>T (p.Pro96Leu) | |
2 | g.178014336G>C | CA349703763 | PDE11A | c.1037C>G (p.Pro346Arg) c.287C>G (p.Pro96Arg) | |
2 | g.178014336G>T | CA349703764 | PDE11A | c.1037C>A (p.Pro346His) c.287C>A (p.Pro96His) | |
2 | g.178014337G>A | CA349703766 | PDE11A | c.1036C>T (p.Pro346Ser) c.286C>T (p.Pro96Ser) | gnomAD v4 |
2 | g.178014337G>C | CA61449348 | PDE11A | c.1036C>G (p.Pro346Ala) c.286C>G (p.Pro96Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178014337G= | CA1310286809 | PDE11A | c.1036C= (p.Pro346=) c.286C= (p.Pro96=) | |
2 | g.178014337G>T | CA349703765 | PDE11A | c.1036C>A (p.Pro346Thr) c.286C>A (p.Pro96Thr) | gnomAD v4 |
2 | g.178014338A= | CA1310286810 | PDE11A | c.1035T= (p.Ile345=) c.285T= (p.Ile95=) | |
2 | g.178014338A>C | CA61449349 | PDE11A | c.1035T>G (p.Ile345Met) c.285T>G (p.Ile95Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178014338A>G | CA430205426 | PDE11A | c.1035T>C (p.Ile345=) c.285T>C (p.Ile95=) | |
2 | g.178014338A>T | CA430205427 | PDE11A | c.1035T>A (p.Ile345=) c.285T>A (p.Ile95=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.178014339A= | CA1310286811 | PDE11A | c.1034T= (p.Ile345=) c.284T= (p.Ile95=) | |
2 | g.178014339A>C | CA349703767 | PDE11A | c.1034T>G (p.Ile345Ser) c.284T>G (p.Ile95Ser) | |
2 | g.178014339A>G | CA349703768 | PDE11A | c.1034T>C (p.Ile345Thr) c.284T>C (p.Ile95Thr) | COSMIC COSMIC |
2 | g.178014339A>T | CA349703769 | PDE11A | c.1034T>A (p.Ile345Asn) c.284T>A (p.Ile95Asn) | dbSNP |
2 | g.178014340T>A | CA349703770 | PDE11A | c.1033A>T (p.Ile345Phe) c.283A>T (p.Ile95Phe) | gnomAD v4 |
2 | g.178014340T>C | CA1982141 | PDE11A | c.1033A>G (p.Ile345Val) c.283A>G (p.Ile95Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178014340T>G | CA349703771 | PDE11A | c.1033A>C (p.Ile345Leu) c.283A>C (p.Ile95Leu) | |
2 | g.178014340T= | CA1310286812 | PDE11A | c.1033A= (p.Ile345=) c.283A= (p.Ile95=) | |
2 | g.178014341C>A | CA349703772 | PDE11A | c.1032G>T (p.Lys344Asn) c.282G>T (p.Lys94Asn) | |
2 | g.178014341C= | CA1310286813 | PDE11A | c.1032G= (p.Lys344=) c.282G= (p.Lys94=) | |
2 | g.178014341C>G | CA349703773 | PDE11A | c.1032G>C (p.Lys344Asn) c.282G>C (p.Lys94Asn) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.178014341C>T | CA430205428 | PDE11A | c.1032G>A (p.Lys344=) c.282G>A (p.Lys94=) | |
2 | g.178014342T>A | CA349703774 | PDE11A | c.1031A>T (p.Lys344Met) c.281A>T (p.Lys94Met) | |
2 | g.178014342T>C | CA349703775 | PDE11A | c.1031A>G (p.Lys344Arg) c.281A>G (p.Lys94Arg) | |
2 | g.178014342T>G | CA349703776 | PDE11A | c.1031A>C (p.Lys344Thr) c.281A>C (p.Lys94Thr) | |
2 | g.178014343T>A | CA349703778 | PDE11A | c.1030A>T (p.Lys344Ter) c.280A>T (p.Lys94Ter) | |
2 | g.178014343T>C | CA349703779 | PDE11A | c.1030A>G (p.Lys344Glu) c.280A>G (p.Lys94Glu) | gnomAD v4 |
2 | g.178014343T>G | CA349703777 | PDE11A | c.1030A>C (p.Lys344Gln) c.280A>C (p.Lys94Gln) | |
2 | g.178014344A>C | CA349703781 | PDE11A | c.1029T>G (p.Asn343Lys) c.279T>G (p.Asn93Lys) | gnomAD v4 |
2 | g.178014344A>G | CA430205429 | PDE11A | c.1029T>C (p.Asn343=) c.279T>C (p.Asn93=) | |
2 | g.178014344A>T | CA349703780 | PDE11A | c.1029T>A (p.Asn343Lys) c.279T>A (p.Asn93Lys) | |
2 | g.178014345T>A | CA349703782 | PDE11A | c.1028A>T (p.Asn343Ile) c.278A>T (p.Asn93Ile) | |
2 | g.178014345T>C | CA349703783 | PDE11A | c.1028A>G (p.Asn343Ser) c.278A>G (p.Asn93Ser) | gnomAD v4 |
2 | g.178014345T>G | CA349703784 | PDE11A | c.1028A>C (p.Asn343Thr) c.278A>C (p.Asn93Thr) | |
2 | g.178014346T>A | CA349703785 | PDE11A | c.1027A>T (p.Asn343Tyr) c.277A>T (p.Asn93Tyr) | |
2 | g.178014346T>C | CA349703786 | PDE11A | c.1027A>G (p.Asn343Asp) c.277A>G (p.Asn93Asp) | |
2 | g.178014346T>G | CA349703787 | PDE11A | c.1027A>C (p.Asn343His) c.277A>C (p.Asn93His) | |
2 | g.178014347T>A | CA430205430 | PDE11A | c.1026A>T (p.Ile342=) c.276A>T (p.Ile92=) | |
2 | g.178014347T>C | CA1982142 | PDE11A | c.1026A>G (p.Ile342Met) c.276A>G (p.Ile92Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178014347T>G | CA430205431 | PDE11A | c.1026A>C (p.Ile342=) c.276A>C (p.Ile92=) | |
2 | g.178014347T= | CA1310286814 | PDE11A | c.1026A= (p.Ile342=) c.276A= (p.Ile92=) | |
2 | g.178014348A>C | CA349703788 | PDE11A | c.1025T>G (p.Ile342Arg) c.275T>G (p.Ile92Arg) | |
2 | g.178014348A>G | CA349703789 | PDE11A | c.1025T>C (p.Ile342Thr) c.275T>C (p.Ile92Thr) | |
2 | g.178014348A>T | CA349703790 | PDE11A | c.1025T>A (p.Ile342Lys) c.275T>A (p.Ile92Lys) | |
2 | g.178014349T>A | CA349703793 | PDE11A | c.1024A>T (p.Ile342Leu) c.274A>T (p.Ile92Leu) | |
2 | g.178014349T>C | CA349703792 | PDE11A | c.1024A>G (p.Ile342Val) c.274A>G (p.Ile92Val) | |
2 | g.178014349T>G | CA349703791 | PDE11A | c.1024A>C (p.Ile342Leu) c.274A>C (p.Ile92Leu) | |
2 | g.178014350C>A | CA430205433 | PDE11A | c.1023G>T (p.Ala341=) c.273G>T (p.Ala91=) | |
2 | g.178014350C= | CA1310286815 | PDE11A | c.1023G= (p.Ala341=) c.273G= (p.Ala91=) | |
2 | g.178014350C>G | CA430205432 | PDE11A | c.1023G>C (p.Ala341=) c.273G>C (p.Ala91=) | |
2 | g.178014350C>T | CA1982143 | PDE11A | c.1023G>A (p.Ala341=) c.273G>A (p.Ala91=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.178014351G>A | CA349703794 | PDE11A | c.1022C>T (p.Ala341Val) c.272C>T (p.Ala91Val) | gnomAD v4 COSMIC COSMIC |
2 | g.178014351G>C | CA349703795 | PDE11A | c.1022C>G (p.Ala341Gly) c.272C>G (p.Ala91Gly) | |
2 | g.178014351G>T | CA349703796 | PDE11A | c.1022C>A (p.Ala341Glu) c.272C>A (p.Ala91Glu) | gnomAD v4 |
2 | g.178014352C>A | CA349703797 | PDE11A | c.1021G>T (p.Ala341Ser) c.271G>T (p.Ala91Ser) | |
2 | g.178014352C>G | CA349703798 | PDE11A | c.1021G>C (p.Ala341Pro) c.271G>C (p.Ala91Pro) | |
2 | g.178014352C>T | CA349703799 | PDE11A | c.1021G>A (p.Ala341Thr) c.271G>A (p.Ala91Thr) | gnomAD v4 |
2 | g.178014353T>A | CA349703800 | PDE11A | c.1020A>T (p.Gln340His) c.270A>T (p.Gln90His) | |
2 | g.178014353T>C | CA430205434 | PDE11A | c.1020A>G (p.Gln340=) c.270A>G (p.Gln90=) | |
2 | g.178014353T>G | CA349703801 | PDE11A | c.1020A>C (p.Gln340His) c.270A>C (p.Gln90His) | |
2 | g.178014354T>A | CA349703802 | PDE11A | c.1019A>T (p.Gln340Leu) c.269A>T (p.Gln90Leu) | |
2 | g.178014354T>C | CA349703803 | PDE11A | c.1019A>G (p.Gln340Arg) c.269A>G (p.Gln90Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178014354T>G | CA349703804 | PDE11A | c.1019A>C (p.Gln340Pro) c.269A>C (p.Gln90Pro) | |
2 | g.178014354T= | CA1310286816 | PDE11A | c.1019A= (p.Gln340=) c.269A= (p.Gln90=) | |
2 | g.178014355G>A | CA349703806 | PDE11A | c.1018C>T (p.Gln340Ter) c.268C>T (p.Gln90Ter) | gnomAD v4 |
2 | g.178014355G>C | CA349703807 | PDE11A | c.1018C>G (p.Gln340Glu) c.268C>G (p.Gln90Glu) | |
2 | g.178014355G>T | CA349703805 | PDE11A | c.1018C>A (p.Gln340Lys) c.268C>A (p.Gln90Lys) | |
2 | g.178014356G>A | CA430205435 | PDE11A | c.1017C>T (p.Ala339=) c.267C>T (p.Ala89=) | dbSNP |
2 | g.178014356G>C | CA430205436 | PDE11A | c.1017C>G (p.Ala339=) c.267C>G (p.Ala89=) | |
2 | g.178014356G= | CA1310286817 | PDE11A | c.1017C= (p.Ala339=) c.267C= (p.Ala89=) | |
2 | g.178014356G>T | CA430205437 | PDE11A | c.1017C>A (p.Ala339=) c.267C>A (p.Ala89=) | dbSNP |
2 | g.178014357G>A | CA349703808 | PDE11A | c.1016C>T (p.Ala339Val) c.266C>T (p.Ala89Val) | gnomAD v4 |
2 | g.178014357G>C | CA349703809 | PDE11A | c.1016C>G (p.Ala339Gly) c.266C>G (p.Ala89Gly) | |
2 | g.178014357G>T | CA349703810 | PDE11A | c.1016C>A (p.Ala339Asp) c.266C>A (p.Ala89Asp) | |
2 | g.178014358C>A | CA349703811 | PDE11A | c.1015G>T (p.Ala339Ser) c.265G>T (p.Ala89Ser) | |
2 | g.178014358C>G | CA349703812 | PDE11A | c.1015G>C (p.Ala339Pro) c.265G>C (p.Ala89Pro) | |
2 | g.178014358C>T | CA349703813 | PDE11A | c.1015G>A (p.Ala339Thr) c.265G>A (p.Ala89Thr) | |
2 | g.178014359C>A | CA430205438 | PDE11A | c.1014G>T (p.Val338=) c.264G>T (p.Val88=) | dbSNP gnomAD v4 |
2 | g.178014359C= | CA1310286818 | PDE11A | c.1014G= (p.Val338=) c.264G= (p.Val88=) | |
2 | g.178014359C>G | CA430205439 | PDE11A | c.1014G>C (p.Val338=) c.264G>C (p.Val88=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.178014359C>T | CA430205440 | PDE11A | c.1014G>A (p.Val338=) c.264G>A (p.Val88=) | |
2 | g.178014360A>C | CA349703814 | PDE11A | c.1013T>G (p.Val338Gly) c.263T>G (p.Val88Gly) | |
2 | g.178014360A>G | CA349703815 | PDE11A | c.1013T>C (p.Val338Ala) c.263T>C (p.Val88Ala) | |
2 | g.178014360A>T | CA349703816 | PDE11A | c.1013T>A (p.Val338Glu) c.263T>A (p.Val88Glu) | |
2 | g.178014361C>A | CA349703817 | PDE11A | c.1012G>T (p.Val338Leu) c.262G>T (p.Val88Leu) | dbSNP |
2 | g.178014361C= | CA1310286819 | PDE11A | c.1012G= (p.Val338=) c.262G= (p.Val88=) | |
2 | g.178014361C>G | CA349703818 | PDE11A | c.1012G>C (p.Val338Leu) c.262G>C (p.Val88Leu) | |
2 | g.178014361C>T | CA349703819 | PDE11A | c.1012G>A (p.Val338Met) c.262G>A (p.Val88Met) | |
2 | g.178014362A= | CA1310286820 | PDE11A | c.1011T= (p.Gly337=) c.261T= (p.Gly87=) | |
2 | g.178014362A>C | CA430205441 | PDE11A | c.1011T>G (p.Gly337=) c.261T>G (p.Gly87=) | |
2 | g.178014362A>G | CA430205442 | PDE11A | c.1011T>C (p.Gly337=) c.261T>C (p.Gly87=) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
2 | g.178014362A>T | CA430205443 | PDE11A | c.1011T>A (p.Gly337=) c.261T>A (p.Gly87=) | |
2 | g.178014363C>A | CA349703821 | PDE11A | c.1010G>T (p.Gly337Val) c.260G>T (p.Gly87Val) | |
2 | g.178014363C= | CA1310286821 | PDE11A | c.1010G= (p.Gly337=) c.260G= (p.Gly87=) | |
2 | g.178014363C>G | CA349703822 | PDE11A | c.1010G>C (p.Gly337Ala) c.260G>C (p.Gly87Ala) | COSMIC COSMIC |
2 | g.178014363C>T | CA349703820 | PDE11A | c.1010G>A (p.Gly337Asp) c.260G>A (p.Gly87Asp) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.178014364C>A | CA349703823 | PDE11A | c.1009G>T (p.Gly337Cys) c.259G>T (p.Gly87Cys) | |
2 | g.178014364C>G | CA349703824 | PDE11A | c.1009G>C (p.Gly337Arg) c.259G>C (p.Gly87Arg) | |
2 | g.178014364C>T | CA349703825 | PDE11A | c.1009G>A (p.Gly337Ser) c.259G>A (p.Gly87Ser) | |
2 | g.178014365A>C | CA349703826 | PDE11A | c.1008T>G (p.Ile336Met) c.258T>G (p.Ile86Met) | gnomAD v4 |
2 | g.178014365A>G | CA430205444 | PDE11A | c.1008T>C (p.Ile336=) c.258T>C (p.Ile86=) | |
2 | g.178014365A>T | CA430205445 | PDE11A | c.1008T>A (p.Ile336=) c.258T>A (p.Ile86=) | |
2 | g.178014366A>C | CA349703827 | PDE11A | c.1007T>G (p.Ile336Ser) c.257T>G (p.Ile86Ser) | |
2 | g.178014366A>G | CA349703828 | PDE11A | c.1007T>C (p.Ile336Thr) c.257T>C (p.Ile86Thr) | |
2 | g.178014366A>T | CA349703829 | PDE11A | c.1007T>A (p.Ile336Asn) c.257T>A (p.Ile86Asn) | |
2 | g.178014367T>A | CA349703830 | PDE11A | c.1006A>T (p.Ile336Phe) c.256A>T (p.Ile86Phe) | |
2 | g.178014367T>C | CA349703832 | PDE11A | c.1006A>G (p.Ile336Val) c.256A>G (p.Ile86Val) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.178014367T>G | CA349703831 | PDE11A | c.1006A>C (p.Ile336Leu) c.256A>C (p.Ile86Leu) | |
2 | g.178014367T= | CA1310286822 | PDE11A | c.1006A= (p.Ile336=) c.256A= (p.Ile86=) |