| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.191375143_191375144del | CA2755277 | CCDC50 | c.530_531del (p.Val177GlufsTer?) c.449-5016_449-5015del (n.449-5016_449-5015del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.191375144G>A | CA437422129 | CCDC50 | c.531G>A (p.Val177=) c.449-5015G>A (n.449-5015G>A) | |
| 3 | g.191375144G>C | CA437422130 | CCDC50 | c.531G>C (p.Val177=) c.449-5015G>C (n.449-5015G>C) | dbSNP |
| 3 | g.191375144G= | CA1429222146 | CCDC50 | c.531G= (p.Val177=) c.449-5015G= (n.449-5015G=) | |
| 3 | g.191375144G>T | CA437422131 | CCDC50 | c.531G>T (p.Val177=) c.449-5015G>T (n.449-5015G>T) | |
| 3 | g.191375145A>C | CA355763843 | CCDC50 | c.532A>C (p.Lys178Gln) c.449-5014A>C (n.449-5014A>C) | |
| 3 | g.191375145A>G | CA355763845 | CCDC50 | c.532A>G (p.Lys178Glu) c.449-5014A>G (n.449-5014A>G) | |
| 3 | g.191375145A>T | CA355763846 | CCDC50 | c.532A>T (p.Lys178Ter) c.449-5014A>T (n.449-5014A>T) | |
| 3 | g.191375146A>C | CA355763847 | CCDC50 | c.533A>C (p.Lys178Thr) c.449-5013A>C (n.449-5013A>C) | |
| 3 | g.191375146A>G | CA355763848 | CCDC50 | c.533A>G (p.Lys178Arg) c.449-5013A>G (n.449-5013A>G) | |
| 3 | g.191375146A>T | CA355763850 | CCDC50 | c.533A>T (p.Lys178Met) c.449-5013A>T (n.449-5013A>T) | |
| 3 | g.191375147G>A | CA437422132 | CCDC50 | c.534G>A (p.Lys178=) c.449-5012G>A (n.449-5012G>A) | gnomAD v4 |
| 3 | g.191375147G>C | CA355763852 | CCDC50 | c.534G>C (p.Lys178Asn) c.449-5012G>C (n.449-5012G>C) | |
| 3 | g.191375147G>T | CA355763854 | CCDC50 | c.534G>T (p.Lys178Asn) c.449-5012G>T (n.449-5012G>T) | |
| 3 | g.191375148C>A | CA355763860 | CCDC50 | c.535C>A (p.His179Asn) c.449-5011C>A (n.449-5011C>A) | |
| 3 | g.191375148C>G | CA355763856 | CCDC50 | c.535C>G (p.His179Asp) c.449-5011C>G (n.449-5011C>G) | |
| 3 | g.191375148C>T | CA355763858 | CCDC50 | c.535C>T (p.His179Tyr) c.449-5011C>T (n.449-5011C>T) | |
| 3 | g.191375149A>C | CA355763862 | CCDC50 | c.536A>C (p.His179Pro) c.449-5010A>C (n.449-5010A>C) | |
| 3 | g.191375149A>G | CA355763864 | CCDC50 | c.536A>G (p.His179Arg) c.449-5010A>G (n.449-5010A>G) | |
| 3 | g.191375149A>T | CA355763866 | CCDC50 | c.536A>T (p.His179Leu) c.449-5010A>T (n.449-5010A>T) | gnomAD v4 |
| 3 | g.191375150C>A | CA355763868 | CCDC50 | c.537C>A (p.His179Gln) c.449-5009C>A (n.449-5009C>A) | gnomAD v4 |
| 3 | g.191375150C>G | CA355763870 | CCDC50 | c.537C>G (p.His179Gln) c.449-5009C>G (n.449-5009C>G) | dbSNP |
| 3 | g.191375150C>T | CA437422134 | CCDC50 | c.537C>T (p.His179=) c.449-5009C>T (n.449-5009C>T) | |
| 3 | g.191375151A>C | CA355763872 | CCDC50 | c.538A>C (p.Lys180Gln) c.449-5008A>C (n.449-5008A>C) | gnomAD v4 |
| 3 | g.191375151A>G | CA355763875 | CCDC50 | c.538A>G (p.Lys180Glu) c.449-5008A>G (n.449-5008A>G) | gnomAD v4 |
| 3 | g.191375151A>T | CA355763877 | CCDC50 | c.538A>T (p.Lys180Ter) c.449-5008A>T (n.449-5008A>T) | |
| 3 | g.191375152A= | CA1429222147 | CCDC50 | c.539A= (p.Lys180=) c.449-5007A= (n.449-5007A=) | |
| 3 | g.191375152A>C | CA355763879 | CCDC50 | c.539A>C (p.Lys180Thr) c.449-5007A>C (n.449-5007A>C) | |
| 3 | g.191375152A>G | CA355763880 | CCDC50 | c.539A>G (p.Lys180Arg) c.449-5007A>G (n.449-5007A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.191375152A>T | CA355763882 | CCDC50 | c.539A>T (p.Lys180Met) c.449-5007A>T (n.449-5007A>T) | |
| 3 | g.191375153G>A | CA437422138 | CCDC50 | c.540G>A (p.Lys180=) c.449-5006G>A (n.449-5006G>A) | |
| 3 | g.191375153G>C | CA355763884 | CCDC50 | c.540G>C (p.Lys180Asn) c.449-5006G>C (n.449-5006G>C) | |
| 3 | g.191375153G>T | CA355763886 | CCDC50 | c.540G>T (p.Lys180Asn) c.449-5006G>T (n.449-5006G>T) | |
| 3 | g.191375154A>C | CA355763889 | CCDC50 | c.541A>C (p.Lys181Gln) c.449-5005A>C (n.449-5005A>C) | |
| 3 | g.191375154A>G | CA355763891 | CCDC50 | c.541A>G (p.Lys181Glu) c.449-5005A>G (n.449-5005A>G) | |
| 3 | g.191375154A>T | CA355763888 | CCDC50 | c.541A>T (p.Lys181Ter) c.449-5005A>T (n.449-5005A>T) | |
| 3 | g.191375155A>C | CA355763893 | CCDC50 | c.542A>C (p.Lys181Thr) c.449-5004A>C (n.449-5004A>C) | |
| 3 | g.191375155A>G | CA355763894 | CCDC50 | c.542A>G (p.Lys181Arg) c.449-5004A>G (n.449-5004A>G) | |
| 3 | g.191375155A>T | CA355763897 | CCDC50 | c.542A>T (p.Lys181Ile) c.449-5004A>T (n.449-5004A>T) | |
| 3 | g.191375155_191375157delinsAAG | CA1429222148 | CCDC50 | c.542_544delinsAAG (p.Lys181=) c.449-5004_449-5002delinsAAG (n.449-5004_449-5002delinsAAG) | |
| 3 | g.191375156A= | CA1429222149 | CCDC50 | c.543A= (p.Lys181=) c.449-5003A= (n.449-5003A=) | |
| 3 | g.191375156A>C | CA355763900 | CCDC50 | c.543A>C (p.Lys181Asn) c.449-5003A>C (n.449-5003A>C) | |
| 3 | g.191375156A>G | CA2755278 | CCDC50 | c.543A>G (p.Lys181=) c.449-5003A>G (n.449-5003A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.191375156A>T | CA355763903 | CCDC50 | c.543A>T (p.Lys181Asn) c.449-5003A>T (n.449-5003A>T) | |
| 3 | g.191375159_191375160del | CA89778651 | CCDC50 | c.546_547del (p.Lys183ThrfsTer25) c.449-5000_449-4999del (n.449-5000_449-4999del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.191375157G>A | CA355763906 | CCDC50 | c.544G>A (p.Glu182Lys) c.449-5002G>A (n.449-5002G>A) | gnomAD v4 |
| 3 | g.191375157G>C | CA355763908 | CCDC50 | c.544G>C (p.Glu182Gln) c.449-5002G>C (n.449-5002G>C) | |
| 3 | g.191375157G>T | CA355763910 | CCDC50 | c.544G>T (p.Glu182Ter) c.449-5002G>T (n.449-5002G>T) | |
| 3 | g.191375158A>C | CA355763913 | CCDC50 | c.545A>C (p.Glu182Ala) c.449-5001A>C (n.449-5001A>C) | |
| 3 | g.191375158A>G | CA355763915 | CCDC50 | c.545A>G (p.Glu182Gly) c.449-5001A>G (n.449-5001A>G) | |
| 3 | g.191375158A>T | CA355763917 | CCDC50 | c.545A>T (p.Glu182Val) c.449-5001A>T (n.449-5001A>T) | |
| 3 | g.191375159G>A | CA2755280 | CCDC50 | c.546G>A (p.Glu182=) c.449-5000G>A (n.449-5000G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.191375159G>C | CA2755279 | CCDC50 | c.546G>C (p.Glu182Asp) c.449-5000G>C (n.449-5000G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.191375159G= | CA1429222150 | CCDC50 | c.546G= (p.Glu182=) c.449-5000G= (n.449-5000G=) | |
| 3 | g.191375159G>T | CA355763919 | CCDC50 | c.546G>T (p.Glu182Asp) c.449-5000G>T (n.449-5000G>T) | |
| 3 | g.191375160A>C | CA355763923 | CCDC50 | c.547A>C (p.Lys183Gln) c.449-4999A>C (n.449-4999A>C) | |
| 3 | g.191375160A>G | CA355763925 | CCDC50 | c.547A>G (p.Lys183Glu) c.449-4999A>G (n.449-4999A>G) | |
| 3 | g.191375160A>T | CA355763927 | CCDC50 | c.547A>T (p.Lys183Ter) c.449-4999A>T (n.449-4999A>T) | |
| 3 | g.191375161A>C | CA355763930 | CCDC50 | c.548A>C (p.Lys183Thr) c.449-4998A>C (n.449-4998A>C) | gnomAD v4 |
| 3 | g.191375161A>G | CA355763932 | CCDC50 | c.548A>G (p.Lys183Arg) c.449-4998A>G (n.449-4998A>G) | |
| 3 | g.191375161A>T | CA355763934 | CCDC50 | c.548A>T (p.Lys183Ile) c.449-4998A>T (n.449-4998A>T) | |
| 3 | g.191375162A>C | CA355763937 | CCDC50 | c.549A>C (p.Lys183Asn) c.449-4997A>C (n.449-4997A>C) | |
| 3 | g.191375162A>G | CA437422144 | CCDC50 | c.549A>G (p.Lys183=) c.449-4997A>G (n.449-4997A>G) | |
| 3 | g.191375162A>T | CA355763939 | CCDC50 | c.549A>T (p.Lys183Asn) c.449-4997A>T (n.449-4997A>T) | |
| 3 | g.191375163C>A | CA355763941 | CCDC50 | c.550C>A (p.Pro184Thr) c.449-4996C>A (n.449-4996C>A) | |
| 3 | g.191375163C= | CA1429222151 | CCDC50 | c.550C= (p.Pro184=) c.449-4996C= (n.449-4996C=) | |
| 3 | g.191375163C>G | CA89778654 | CCDC50 | c.550C>G (p.Pro184Ala) c.449-4996C>G (n.449-4996C>G) | dbSNP |
| 3 | g.191375163C>T | CA355763943 | CCDC50 | c.550C>T (p.Pro184Ser) c.449-4996C>T (n.449-4996C>T) | |
| 3 | g.191375164C>A | CA355763946 | CCDC50 | c.551C>A (p.Pro184Gln) c.449-4995C>A (n.449-4995C>A) | |
| 3 | g.191375164C= | CA1429222152 | CCDC50 | c.551C= (p.Pro184=) c.449-4995C= (n.449-4995C=) | |
| 3 | g.191375164C>G | CA355763948 | CCDC50 | c.551C>G (p.Pro184Arg) c.449-4995C>G (n.449-4995C>G) | |
| 3 | g.191375164C>T | CA355763950 | CCDC50 | c.551C>T (p.Pro184Leu) c.449-4995C>T (n.449-4995C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.191375165A= | CA1429222153 | CCDC50 | c.552A= (p.Pro184=) c.449-4994A= (n.449-4994A=) | |
| 3 | g.191375165A>C | CA437422146 | CCDC50 | c.552A>C (p.Pro184=) c.449-4994A>C (n.449-4994A>C) | |
| 3 | g.191375165A>G | CA437422147 | CCDC50 | c.552A>G (p.Pro184=) c.449-4994A>G (n.449-4994A>G) | gnomAD v4 |
| 3 | g.191375165A>T | CA437422148 | CCDC50 | c.552A>T (p.Pro184=) c.449-4994A>T (n.449-4994A>T) | |
| 3 | g.191375166G>A | CA2755281 | CCDC50 | c.553G>A (p.Glu185Lys) c.449-4993G>A (n.449-4993G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.191375166G>C | CA355763955 | CCDC50 | c.553G>C (p.Glu185Gln) c.449-4993G>C (n.449-4993G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.191375166G= | CA1429222154 | CCDC50 | c.553G= (p.Glu185=) c.449-4993G= (n.449-4993G=) | |
| 3 | g.191375166G>T | CA355763952 | CCDC50 | c.553G>T (p.Glu185Ter) c.449-4993G>T (n.449-4993G>T) | |
| 3 | g.191375167_191375177dup | CA1429222155 | CCDC50 | c.554_564dup (p.Glu189AsnfsTer?) c.449-4992_449-4982dup (n.449-4992_449-4982dup) | dbSNP |
| 3 | g.191375167A>C | CA355763957 | CCDC50 | c.554A>C (p.Glu185Ala) c.449-4992A>C (n.449-4992A>C) | |
| 3 | g.191375167A>G | CA355763959 | CCDC50 | c.554A>G (p.Glu185Gly) c.449-4992A>G (n.449-4992A>G) | |
| 3 | g.191375167A>T | CA355763961 | CCDC50 | c.554A>T (p.Glu185Val) c.449-4992A>T (n.449-4992A>T) | |
| 3 | g.191375168A>C | CA355763963 | CCDC50 | c.555A>C (p.Glu185Asp) c.449-4991A>C (n.449-4991A>C) | |
| 3 | g.191375168A>G | CA437422151 | CCDC50 | c.555A>G (p.Glu185=) c.449-4991A>G (n.449-4991A>G) | |
| 3 | g.191375168A>T | CA355763965 | CCDC50 | c.555A>T (p.Glu185Asp) c.449-4991A>T (n.449-4991A>T) | |
| 3 | g.191375169C>A | CA355763967 | CCDC50 | c.556C>A (p.His186Asn) c.449-4990C>A (n.449-4990C>A) | |
| 3 | g.191375169C>G | CA355763969 | CCDC50 | c.556C>G (p.His186Asp) c.449-4990C>G (n.449-4990C>G) | |
| 3 | g.191375169C>T | CA355763971 | CCDC50 | c.556C>T (p.His186Tyr) c.449-4990C>T (n.449-4990C>T) | |
| 3 | g.191375170A= | CA1429222156 | CCDC50 | c.557A= (p.His186=) c.449-4989A= (n.449-4989A=) | |
| 3 | g.191375170A>C | CA355763974 | CCDC50 | c.557A>C (p.His186Pro) c.449-4989A>C (n.449-4989A>C) | |
| 3 | g.191375170A>G | CA355763975 | CCDC50 | c.557A>G (p.His186Arg) c.449-4989A>G (n.449-4989A>G) | dbSNP gnomAD v4 |
| 3 | g.191375170A>T | CA355763976 | CCDC50 | c.557A>T (p.His186Leu) c.449-4989A>T (n.449-4989A>T) | |
| 3 | g.191375171T>A | CA355763977 | CCDC50 | c.558T>A (p.His186Gln) c.449-4988T>A (n.449-4988T>A) | |
| 3 | g.191375171T>C | CA437422155 | CCDC50 | c.558T>C (p.His186=) c.449-4988T>C (n.449-4988T>C) | |
| 3 | g.191375171T>G | CA355763979 | CCDC50 | c.558T>G (p.His186Gln) c.449-4988T>G (n.449-4988T>G) | |
| 3 | g.191375172C>A | CA355763984 | CCDC50 | c.559C>A (p.Pro187Thr) c.449-4987C>A (n.449-4987C>A) | |
| 3 | g.191375172C>G | CA355763981 | CCDC50 | c.559C>G (p.Pro187Ala) c.449-4987C>G (n.449-4987C>G) | |
| 3 | g.191375172C>T | CA355763983 | CCDC50 | c.559C>T (p.Pro187Ser) c.449-4987C>T (n.449-4987C>T) | |
| 3 | g.191375173C>A | CA355763987 | CCDC50 | c.560C>A (p.Pro187Gln) c.449-4986C>A (n.449-4986C>A) | dbSNP gnomAD v4 |
| 3 | g.191375173C= | CA1429222157 | CCDC50 | c.560C= (p.Pro187=) c.449-4986C= (n.449-4986C=) | |
| 3 | g.191375173C>G | CA355763989 | CCDC50 | c.560C>G (p.Pro187Arg) c.449-4986C>G (n.449-4986C>G) | |
| 3 | g.191375173C>T | CA355763991 | CCDC50 | c.560C>T (p.Pro187Leu) c.449-4986C>T (n.449-4986C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.191375174A>C | CA437422158 | CCDC50 | c.561A>C (p.Pro187=) c.449-4985A>C (n.449-4985A>C) | |
| 3 | g.191375174A>G | CA437422159 | CCDC50 | c.561A>G (p.Pro187=) c.449-4985A>G (n.449-4985A>G) | dbSNP gnomAD v4 COSMIC |
| 3 | g.191375174A>T | CA437422157 | CCDC50 | c.561A>T (p.Pro187=) c.449-4985A>T (n.449-4985A>T) | |
| 3 | g.191375175C>A | CA355763993 | CCDC50 | c.562C>A (p.Leu188Met) c.449-4984C>A (n.449-4984C>A) | |
| 3 | g.191375175C= | CA1429222158 | CCDC50 | c.562C= (p.Leu188=) c.449-4984C= (n.449-4984C=) | |
| 3 | g.191375175C>G | CA355763995 | CCDC50 | c.562C>G (p.Leu188Val) c.449-4984C>G (n.449-4984C>G) | |
| 3 | g.191375175C>T | CA437422160 | CCDC50 | c.562C>T (p.Leu188=) c.449-4984C>T (n.449-4984C>T) | |
| 3 | g.191375176T>A | CA355763996 | CCDC50 | c.563T>A (p.Leu188Gln) c.449-4983T>A (n.449-4983T>A) | |
| 3 | g.191375176T>C | CA355763997 | CCDC50 | c.563T>C (p.Leu188Pro) c.449-4983T>C (n.449-4983T>C) | |
| 3 | g.191375176T>G | CA355763998 | CCDC50 | c.563T>G (p.Leu188Arg) c.449-4983T>G (n.449-4983T>G) | |
| 3 | g.191375176dup | CA2755282 | CCDC50 | c.563dup (p.Glu189GlyfsTer20) c.449-4983dup (n.449-4983dup) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.191375177G>A | CA437422164 | CCDC50 | c.564G>A (p.Leu188=) c.449-4982G>A (n.449-4982G>A) | |
| 3 | g.191375177G>C | CA437422165 | CCDC50 | c.564G>C (p.Leu188=) c.449-4982G>C (n.449-4982G>C) | |
| 3 | g.191375177G>T | CA437422166 | CCDC50 | c.564G>T (p.Leu188=) c.449-4982G>T (n.449-4982G>T) | |
| 3 | g.191375178G>A | CA355763999 | CCDC50 | c.565G>A (p.Glu189Lys) c.449-4981G>A (n.449-4981G>A) | |
| 3 | g.191375178G>C | CA355764000 | CCDC50 | c.565G>C (p.Glu189Gln) c.449-4981G>C (n.449-4981G>C) | |
| 3 | g.191375178G>T | CA355764001 | CCDC50 | c.565G>T (p.Glu189Ter) c.449-4981G>T (n.449-4981G>T) | COSMIC |
| 3 | g.191375179A>C | CA355764002 | CCDC50 | c.566A>C (p.Glu189Ala) c.449-4980A>C (n.449-4980A>C) | |
| 3 | g.191375179A>G | CA355764004 | CCDC50 | c.566A>G (p.Glu189Gly) c.449-4980A>G (n.449-4980A>G) | |
| 3 | g.191375179A>T | CA355764003 | CCDC50 | c.566A>T (p.Glu189Val) c.449-4980A>T (n.449-4980A>T) | |
| 3 | g.191375180G>A | CA437422168 | CCDC50 | c.567G>A (p.Glu189=) c.449-4979G>A (n.449-4979G>A) | |
| 3 | g.191375180G>C | CA355764005 | CCDC50 | c.567G>C (p.Glu189Asp) c.449-4979G>C (n.449-4979G>C) | |
| 3 | g.191375180G>T | CA355764006 | CCDC50 | c.567G>T (p.Glu189Asp) c.449-4979G>T (n.449-4979G>T) | |
| 3 | g.191375180_191375181delinsGA | CA1429222159 | CCDC50 | c.567_568delinsGA (p.Glu189=) c.449-4979_449-4978delinsGA (n.449-4979_449-4978delinsGA) | |
| 3 | g.191375181A>C | CA355764007 | CCDC50 | c.568A>C (p.Asn190His) c.449-4978A>C (n.449-4978A>C) | |
| 3 | g.191375181A>G | CA355764008 | CCDC50 | c.568A>G (p.Asn190Asp) c.449-4978A>G (n.449-4978A>G) | |
| 3 | g.191375181A>T | CA355764009 | CCDC50 | c.568A>T (p.Asn190Tyr) c.449-4978A>T (n.449-4978A>T) | |
| 3 | g.191375182del | CA917083648 | CCDC50 | c.569del (p.Asn190ThrfsTer?) c.449-4977del (n.449-4977del) | dbSNP gnomAD v4 |
| 3 | g.191375182A= | CA1429222160 | CCDC50 | c.569A= (p.Asn190=) c.449-4977A= (n.449-4977A=) | |
| 3 | g.191375182A>C | CA355764010 | CCDC50 | c.569A>C (p.Asn190Thr) c.449-4977A>C (n.449-4977A>C) | |
| 3 | g.191375182A>G | CA89778657 | CCDC50 | c.569A>G (p.Asn190Ser) c.449-4977A>G (n.449-4977A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.191375182A>T | CA355764011 | CCDC50 | c.569A>T (p.Asn190Ile) c.449-4977A>T (n.449-4977A>T) | |
| 3 | g.191375183C>A | CA355764012 | CCDC50 | c.570C>A (p.Asn190Lys) c.449-4976C>A (n.449-4976C>A) | |
| 3 | g.191375183C= | CA1429222161 | CCDC50 | c.570C= (p.Asn190=) c.449-4976C= (n.449-4976C=) | |
| 3 | g.191375183C>G | CA355764013 | CCDC50 | c.570C>G (p.Asn190Lys) c.449-4976C>G (n.449-4976C>G) | |
| 3 | g.191375183C>T | CA2755283 | CCDC50 | c.570C>T (p.Asn190=) c.449-4976C>T (n.449-4976C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.191375184T>A | CA355764014 | CCDC50 | c.571T>A (p.Leu191Met) c.449-4975T>A (n.449-4975T>A) | |
| 3 | g.191375184T>C | CA437422170 | CCDC50 | c.571T>C (p.Leu191=) c.449-4975T>C (n.449-4975T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.191375184T>G | CA355764015 | CCDC50 | c.571T>G (p.Leu191Val) c.449-4975T>G (n.449-4975T>G) | |
| 3 | g.191375184T= | CA1429222162 | CCDC50 | c.571T= (p.Leu191=) c.449-4975T= (n.449-4975T=) | |
| 3 | g.191375185T>A | CA355764016 | CCDC50 | c.572T>A (p.Leu191Ter) c.449-4974T>A (n.449-4974T>A) | |
| 3 | g.191375185T>C | CA355764017 | CCDC50 | c.572T>C (p.Leu191Ser) c.449-4974T>C (n.449-4974T>C) | gnomAD v2 |
| 3 | g.191375185T>G | CA355764018 | CCDC50 | c.572T>G (p.Leu191Trp) c.449-4974T>G (n.449-4974T>G) | |
| 3 | g.191375186G>A | CA437422174 | CCDC50 | c.573G>A (p.Leu191=) c.449-4973G>A (n.449-4973G>A) | |
| 3 | g.191375186G>C | CA355764019 | CCDC50 | c.573G>C (p.Leu191Phe) c.449-4973G>C (n.449-4973G>C) | gnomAD v4 |
| 3 | g.191375186G>T | CA355764020 | CCDC50 | c.573G>T (p.Leu191Phe) c.449-4973G>T (n.449-4973G>T) | |
| 3 | g.191375187G>A | CA355764021 | CCDC50 | c.574G>A (p.Glu192Lys) c.449-4972G>A (n.449-4972G>A) | |
| 3 | g.191375187G>C | CA2755284 | CCDC50 | c.574G>C (p.Glu192Gln) c.449-4972G>C (n.449-4972G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.191375187G= | CA1429222163 | CCDC50 | c.574G= (p.Glu192=) c.449-4972G= (n.449-4972G=) | |
| 3 | g.191375187G>T | CA355764022 | CCDC50 | c.574G>T (p.Glu192Ter) c.449-4972G>T (n.449-4972G>T) | |
| 3 | g.191375188A>C | CA355764023 | CCDC50 | c.575A>C (p.Glu192Ala) c.449-4971A>C (n.449-4971A>C) | |
| 3 | g.191375188A>G | CA355764024 | CCDC50 | c.575A>G (p.Glu192Gly) c.449-4971A>G (n.449-4971A>G) | |
| 3 | g.191375188A>T | CA355764025 | CCDC50 | c.575A>T (p.Glu192Val) c.449-4971A>T (n.449-4971A>T) | |
| 3 | g.191375189A= | CA1429222164 | CCDC50 | c.576A= (p.Glu192=) c.449-4970A= (n.449-4970A=) | |
| 3 | g.191375189A>C | CA355764026 | CCDC50 | c.576A>C (p.Glu192Asp) c.449-4970A>C (n.449-4970A>C) | |
| 3 | g.191375189A>G | CA437422177 | CCDC50 | c.576A>G (p.Glu192=) c.449-4970A>G (n.449-4970A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.191375189A>T | CA355764027 | CCDC50 | c.576A>T (p.Glu192Asp) c.449-4970A>T (n.449-4970A>T) | |
| 3 | g.191375190G>A | CA355764028 | CCDC50 | c.577G>A (p.Glu193Lys) c.449-4969G>A (n.449-4969G>A) | |
| 3 | g.191375190G>C | CA355764029 | CCDC50 | c.577G>C (p.Glu193Gln) c.449-4969G>C (n.449-4969G>C) | |
| 3 | g.191375190G>T | CA355764030 | CCDC50 | c.577G>T (p.Glu193Ter) c.449-4969G>T (n.449-4969G>T) | |
| 3 | g.191375190_191375194delinsGAGCC | CA1429222165 | CCDC50 | c.577_581delinsGAGCC (p.Glu193=) c.449-4969_449-4965delinsGAGCC (n.449-4969_449-4965delinsGAGCC) | |
| 3 | g.191375191A= | CA1429222167 | CCDC50 | c.578A= (p.Glu193=) c.449-4968A= (n.449-4968A=) | |
| 3 | g.191375191A>C | CA355764032 | CCDC50 | c.578A>C (p.Glu193Ala) c.449-4968A>C (n.449-4968A>C) | |
| 3 | g.191375191A>G | CA2755285 | CCDC50 | c.578A>G (p.Glu193Gly) c.449-4968A>G (n.449-4968A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.191375191A>T | CA355764031 | CCDC50 | c.578A>T (p.Glu193Val) c.449-4968A>T (n.449-4968A>T) | |
| 3 | g.191375193_191375196del | CA1429222166 | CCDC50 | c.580_583del (p.Pro194AsnfsTer?) c.449-4966_449-4963del (n.449-4966_449-4963del) | dbSNP |
| 3 | g.191375192G>A | CA437422180 | CCDC50 | c.579G>A (p.Glu193=) c.449-4967G>A (n.449-4967G>A) | dbSNP gnomAD v4 |
| 3 | g.191375192G>C | CA355764033 | CCDC50 | c.579G>C (p.Glu193Asp) c.449-4967G>C (n.449-4967G>C) | |
| 3 | g.191375192G= | CA1429222169 | CCDC50 | c.579G= (p.Glu193=) c.449-4967G= (n.449-4967G=) | |
| 3 | g.191375192G>T | CA355764034 | CCDC50 | c.579G>T (p.Glu193Asp) c.449-4967G>T (n.449-4967G>T) | |
| 3 | g.191375192_191375198delinsGCCAGAA | CA1429222168 | CCDC50 | c.579_585delinsGCCAGAA (p.Glu193=) c.449-4967_449-4961delinsGCCAGAA (n.449-4967_449-4961delinsGCCAGAA) | |
| 3 | g.191375193C>A | CA355764035 | CCDC50 | c.580C>A (p.Pro194Thr) c.449-4966C>A (n.449-4966C>A) | |
| 3 | g.191375193C= | CA1429222170 | CCDC50 | c.580C= (p.Pro194=) c.449-4966C= (n.449-4966C=) | |
| 3 | g.191375193C>G | CA355764036 | CCDC50 | c.580C>G (p.Pro194Ala) c.449-4966C>G (n.449-4966C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.191375193C>T | CA355764037 | CCDC50 | c.580C>T (p.Pro194Ser) c.449-4966C>T (n.449-4966C>T) | |
| 3 | g.191375194_191375199del | CA1057746920 | CCDC50 | c.581_586del (p.Pro194_Glu195del) c.449-4965_449-4960del (n.449-4965_449-4960del) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.191375194C>A | CA355764038 | CCDC50 | c.581C>A (p.Pro194Gln) c.449-4965C>A (n.449-4965C>A) | |
| 3 | g.191375194C>G | CA355764039 | CCDC50 | c.581C>G (p.Pro194Arg) c.449-4965C>G (n.449-4965C>G) | |
| 3 | g.191375194C>T | CA355764040 | CCDC50 | c.581C>T (p.Pro194Leu) c.449-4965C>T (n.449-4965C>T) | |
| 3 | g.191375195A>C | CA437422182 | CCDC50 | c.582A>C (p.Pro194=) c.449-4964A>C (n.449-4964A>C) | |
| 3 | g.191375195A>G | CA437422183 | CCDC50 | c.582A>G (p.Pro194=) c.449-4964A>G (n.449-4964A>G) | |
| 3 | g.191375195A>T | CA437422181 | CCDC50 | c.582A>T (p.Pro194=) c.449-4964A>T (n.449-4964A>T) | |
| 3 | g.191375196G>A | CA355764041 | CCDC50 | c.583G>A (p.Glu195Lys) c.449-4963G>A (n.449-4963G>A) | |
| 3 | g.191375196G>C | CA355764042 | CCDC50 | c.583G>C (p.Glu195Gln) c.449-4963G>C (n.449-4963G>C) | |
| 3 | g.191375196G>T | CA355764043 | CCDC50 | c.583G>T (p.Glu195Ter) c.449-4963G>T (n.449-4963G>T) | gnomAD v4 |
| 3 | g.191375197A= | CA1429222171 | CCDC50 | c.584A= (p.Glu195=) c.449-4962A= (n.449-4962A=) | |
| 3 | g.191375197A>C | CA355764044 | CCDC50 | c.584A>C (p.Glu195Ala) c.449-4962A>C (n.449-4962A>C) | |
| 3 | g.191375197A>G | CA355764045 | CCDC50 | c.584A>G (p.Glu195Gly) c.449-4962A>G (n.449-4962A>G) | |
| 3 | g.191375197A>T | CA355764046 | CCDC50 | c.584A>T (p.Glu195Val) c.449-4962A>T (n.449-4962A>T) | dbSNP |
| 3 | g.191375198A= | CA1429222172 | CCDC50 | c.585A= (p.Glu195=) c.449-4961A= (n.449-4961A=) | |
| 3 | g.191375198A>C | CA355764047 | CCDC50 | c.585A>C (p.Glu195Asp) c.449-4961A>C (n.449-4961A>C) | |
| 3 | g.191375198A>G | CA437422185 | CCDC50 | c.585A>G (p.Glu195=) c.449-4961A>G (n.449-4961A>G) | |
| 3 | g.191375198A>T | CA355764048 | CCDC50 | c.585A>T (p.Glu195Asp) c.449-4961A>T (n.449-4961A>T) | dbSNP |
| 3 | g.191375198_191375199insTT | CA1057746922 | CCDC50 | c.585_586insTT (p.Gln196PhefsTer?) c.449-4961_449-4960insTT (n.449-4961_449-4960insTT) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.191375199C>A | CA355764049 | CCDC50 | c.586C>A (p.Gln196Lys) c.449-4960C>A (n.449-4960C>A) | gnomAD v4 |
| 3 | g.191375199C= | CA1429222173 | CCDC50 | c.586C= (p.Gln196=) c.449-4960C= (n.449-4960C=) | |
| 3 | g.191375199C>G | CA2755286 | CCDC50 | c.586C>G (p.Gln196Glu) c.449-4960C>G (n.449-4960C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.191375199C>T | CA355764050 | CCDC50 | c.586C>T (p.Gln196Ter) c.449-4960C>T (n.449-4960C>T) | |
| 3 | g.191375199_191375204dup | CA2669072417 | CCDC50 | c.586_591dup (p.His197_Cys198insGlnHis) c.449-4960_449-4955dup (n.449-4960_449-4955dup) | gnomAD v4 |
| 3 | g.191375200A>C | CA355764051 | CCDC50 | c.587A>C (p.Gln196Pro) c.449-4959A>C (n.449-4959A>C) | |
| 3 | g.191375200A>G | CA355764052 | CCDC50 | c.587A>G (p.Gln196Arg) c.449-4959A>G (n.449-4959A>G) | |
| 3 | g.191375200A>T | CA355764053 | CCDC50 | c.587A>T (p.Gln196Leu) c.449-4959A>T (n.449-4959A>T) | |
| 3 | g.191375201A= | CA1429222174 | CCDC50 | c.588A= (p.Gln196=) c.449-4958A= (n.449-4958A=) | |
| 3 | g.191375201A>C | CA355764054 | CCDC50 | c.588A>C (p.Gln196His) c.449-4958A>C (n.449-4958A>C) | |
| 3 | g.191375201A>G | CA437422186 | CCDC50 | c.588A>G (p.Gln196=) c.449-4958A>G (n.449-4958A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.191375201A>T | CA355764055 | CCDC50 | c.588A>T (p.Gln196His) c.449-4958A>T (n.449-4958A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.191375202C>A | CA355764056 | CCDC50 | c.589C>A (p.His197Asn) c.449-4957C>A (n.449-4957C>A) | |
| 3 | g.191375202C>G | CA355764057 | CCDC50 | c.589C>G (p.His197Asp) c.449-4957C>G (n.449-4957C>G) | |
| 3 | g.191375202C>T | CA355764058 | CCDC50 | c.589C>T (p.His197Tyr) c.449-4957C>T (n.449-4957C>T) | |
| 3 | g.191375203A= | CA1429222175 | CCDC50 | c.590A= (p.His197=) c.449-4956A= (n.449-4956A=) | |
| 3 | g.191375203A>C | CA355764059 | CCDC50 | c.590A>C (p.His197Pro) c.449-4956A>C (n.449-4956A>C) | |
| 3 | g.191375203A>G | CA355764061 | CCDC50 | c.590A>G (p.His197Arg) c.449-4956A>G (n.449-4956A>G) | dbSNP gnomAD v4 |
| 3 | g.191375203A>T | CA355764060 | CCDC50 | c.590A>T (p.His197Leu) c.449-4956A>T (n.449-4956A>T) | |
| 3 | g.191375204T>A | CA355764062 | CCDC50 | c.591T>A (p.His197Gln) c.449-4955T>A (n.449-4955T>A) | |
| 3 | g.191375204T>C | CA437422187 | CCDC50 | c.591T>C (p.His197=) c.449-4955T>C (n.449-4955T>C) | gnomAD v4 |
| 3 | g.191375204T>G | CA355764063 | CCDC50 | c.591T>G (p.His197Gln) c.449-4955T>G (n.449-4955T>G) | |
| 3 | g.191375205T>A | CA355764064 | CCDC50 | c.592T>A (p.Cys198Ser) c.449-4954T>A (n.449-4954T>A) | |
| 3 | g.191375205T>C | CA355764066 | CCDC50 | c.592T>C (p.Cys198Arg) c.449-4954T>C (n.449-4954T>C) | |
| 3 | g.191375205T>G | CA355764065 | CCDC50 | c.592T>G (p.Cys198Gly) c.449-4954T>G (n.449-4954T>G) | |
| 3 | g.191375206G>A | CA355764067 | CCDC50 | c.593G>A (p.Cys198Tyr) c.449-4953G>A (n.449-4953G>A) | |
| 3 | g.191375206G>C | CA355764068 | CCDC50 | c.593G>C (p.Cys198Ser) c.449-4953G>C (n.449-4953G>C) | |
| 3 | g.191375206G>T | CA355764069 | CCDC50 | c.593G>T (p.Cys198Phe) c.449-4953G>T (n.449-4953G>T) | |
| 3 | g.191375207T>A | CA355764070 | CCDC50 | c.594T>A (p.Cys198Ter) c.449-4952T>A (n.449-4952T>A) | |
| 3 | g.191375207T>C | CA437422188 | CCDC50 | c.594T>C (p.Cys198=) c.449-4952T>C (n.449-4952T>C) | dbSNP gnomAD v4 |
| 3 | g.191375207T>G | CA355764071 | CCDC50 | c.594T>G (p.Cys198Trp) c.449-4952T>G (n.449-4952T>G) | |
| 3 | g.191375208T>A | CA355764074 | CCDC50 | c.595T>A (p.Ser199Thr) c.449-4951T>A (n.449-4951T>A) | |
| 3 | g.191375208T>C | CA355764073 | CCDC50 | c.595T>C (p.Ser199Pro) c.449-4951T>C (n.449-4951T>C) | gnomAD v4 |
| 3 | g.191375208T>G | CA355764072 | CCDC50 | c.595T>G (p.Ser199Ala) c.449-4951T>G (n.449-4951T>G) | |
| 3 | g.191375209C>A | CA355764075 | CCDC50 | c.596C>A (p.Ser199Ter) c.449-4950C>A (n.449-4950C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.191375209C= | CA1429222176 | CCDC50 | c.596C= (p.Ser199=) c.449-4950C= (n.449-4950C=) | |
| 3 | g.191375209C>G | CA355764076 | CCDC50 | c.596C>G (p.Ser199Ter) c.449-4950C>G (n.449-4950C>G) | |
| 3 | g.191375209C>T | CA355764077 | CCDC50 | c.596C>T (p.Ser199Leu) c.449-4950C>T (n.449-4950C>T) | |
| 3 | g.191375210A= | CA1429222177 | CCDC50 | c.597A= (p.Ser199=) c.449-4949A= (n.449-4949A=) | |
| 3 | g.191375210A>C | CA437422190 | CCDC50 | c.597A>C (p.Ser199=) c.449-4949A>C (n.449-4949A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.191375210A>G | CA437422191 | CCDC50 | c.597A>G (p.Ser199=) c.449-4949A>G (n.449-4949A>G) | dbSNP gnomAD v4 |
| 3 | g.191375210A>T | CA437422192 | CCDC50 | c.597A>T (p.Ser199=) c.449-4949A>T (n.449-4949A>T) | |
| 3 | g.191375211T>A | CA355764078 | CCDC50 | c.598T>A (p.Ser200Thr) c.449-4948T>A (n.449-4948T>A) | |
| 3 | g.191375211T>C | CA355764079 | CCDC50 | c.598T>C (p.Ser200Pro) c.449-4948T>C (n.449-4948T>C) | |
| 3 | g.191375211T>G | CA355764080 | CCDC50 | c.598T>G (p.Ser200Ala) c.449-4948T>G (n.449-4948T>G) | |
| 3 | g.191375212C>A | CA355764082 | CCDC50 | c.599C>A (p.Ser200Ter) c.449-4947C>A (n.449-4947C>A) | |
| 3 | g.191375212C= | CA1429222178 | CCDC50 | c.599C= (p.Ser200=) c.449-4947C= (n.449-4947C=) | |
| 3 | g.191375212C>G | CA355764081 | CCDC50 | c.599C>G (p.Ser200Trp) c.449-4947C>G (n.449-4947C>G) | gnomAD v4 |
| 3 | g.191375212C>T | CA2755287 | CCDC50 | c.599C>T (p.Ser200Leu) c.449-4947C>T (n.449-4947C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.191375213G>A | CA2755288 | CCDC50 | c.600G>A (p.Ser200=) c.449-4946G>A (n.449-4946G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.191375213G>C | CA437422194 | CCDC50 | c.600G>C (p.Ser200=) c.449-4946G>C (n.449-4946G>C) | |
| 3 | g.191375213G= | CA1429222179 | CCDC50 | c.600G= (p.Ser200=) c.449-4946G= (n.449-4946G=) | |
| 3 | g.191375213G>T | CA437422193 | CCDC50 | c.600G>T (p.Ser200=) c.449-4946G>T (n.449-4946G>T) | |
| 3 | g.191375214A>C | CA355764083 | CCDC50 | c.601A>C (p.Lys201Gln) c.449-4945A>C (n.449-4945A>C) | |
| 3 | g.191375214A>G | CA355764084 | CCDC50 | c.601A>G (p.Lys201Glu) c.449-4945A>G (n.449-4945A>G) | |
| 3 | g.191375214A>T | CA355764085 | CCDC50 | c.601A>T (p.Lys201Ter) c.449-4945A>T (n.449-4945A>T) | |
| 3 | g.191375215A>C | CA355764086 | CCDC50 | c.602A>C (p.Lys201Thr) c.449-4944A>C (n.449-4944A>C) | |
| 3 | g.191375215A>G | CA355764087 | CCDC50 | c.602A>G (p.Lys201Arg) c.449-4944A>G (n.449-4944A>G) | dbSNP |
| 3 | g.191375215A>T | CA355764088 | CCDC50 | c.602A>T (p.Lys201Met) c.449-4944A>T (n.449-4944A>T) | |
| 3 | g.191375216G>A | CA437422195 | CCDC50 | c.603G>A (p.Lys201=) c.449-4943G>A (n.449-4943G>A) | |
| 3 | g.191375216G>C | CA355764089 | CCDC50 | c.603G>C (p.Lys201Asn) c.449-4943G>C (n.449-4943G>C) | |
| 3 | g.191375216G>T | CA355764090 | CCDC50 | c.603G>T (p.Lys201Asn) c.449-4943G>T (n.449-4943G>T) | |
| 3 | g.191375217A= | CA1429222180 | CCDC50 | c.604A= (p.Arg202=) c.449-4942A= (n.449-4942A=) | |
| 3 | g.191375217A>C | CA2755289 | CCDC50 | c.604A>C (p.Arg202=) c.449-4942A>C (n.449-4942A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.191375217A>G | CA355764091 | CCDC50 | c.604A>G (p.Arg202Gly) c.449-4942A>G (n.449-4942A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.191375217A>T | CA355764092 | CCDC50 | c.604A>T (p.Arg202Ter) c.449-4942A>T (n.449-4942A>T) | |
| 3 | g.191375218G>A | CA355764093 | CCDC50 | c.605G>A (p.Arg202Lys) c.449-4941G>A (n.449-4941G>A) | |
| 3 | g.191375218G>C | CA355764095 | CCDC50 | c.605G>C (p.Arg202Thr) c.449-4941G>C (n.449-4941G>C) | |
| 3 | g.191375218G= | CA1429222181 | CCDC50 | c.605G= (p.Arg202=) c.449-4941G= (n.449-4941G=) | |
| 3 | g.191375218G>T | CA355764094 | CCDC50 | c.605G>T (p.Arg202Ile) c.449-4941G>T (n.449-4941G>T) | |
| 3 | g.191375219A>C | CA355764096 | CCDC50 | c.606A>C (p.Arg202Ser) c.449-4940A>C (n.449-4940A>C) | |
| 3 | g.191375219A>G | CA437422196 | CCDC50 | c.606A>G (p.Arg202=) c.449-4940A>G (n.449-4940A>G) | |
| 3 | g.191375219A>T | CA355764097 | CCDC50 | c.606A>T (p.Arg202Ser) c.449-4940A>T (n.449-4940A>T) | |
| 3 | g.191375219dup | CA904368525 | CCDC50 | c.606dup (p.Ser203IlefsTer6) c.449-4940dup (n.449-4940dup) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.191375220T>A | CA355764098 | CCDC50 | c.607T>A (p.Ser203Thr) c.449-4939T>A (n.449-4939T>A) | gnomAD v4 |
| 3 | g.191375220T>C | CA355764099 | CCDC50 | c.607T>C (p.Ser203Pro) c.449-4939T>C (n.449-4939T>C) | |
| 3 | g.191375220T>G | CA355764100 | CCDC50 | c.607T>G (p.Ser203Ala) c.449-4939T>G (n.449-4939T>G) | |
| 3 | g.191375221C>A | CA355764101 | CCDC50 | c.608C>A (p.Ser203Tyr) c.449-4938C>A (n.449-4938C>A) | |
| 3 | g.191375221C>G | CA355764102 | CCDC50 | c.608C>G (p.Ser203Cys) c.449-4938C>G (n.449-4938C>G) | gnomAD v4 |
| 3 | g.191375221C>T | CA355764103 | CCDC50 | c.608C>T (p.Ser203Phe) c.449-4938C>T (n.449-4938C>T) | COSMIC |
| 3 | g.191375222C>A | CA437422197 | CCDC50 | c.609C>A (p.Ser203=) c.449-4937C>A (n.449-4937C>A) | |
| 3 | g.191375222C= | CA1429222182 | CCDC50 | c.609C= (p.Ser203=) c.449-4937C= (n.449-4937C=) | |
| 3 | g.191375222C>G | CA437422198 | CCDC50 | c.609C>G (p.Ser203=) c.449-4937C>G (n.449-4937C>G) | |
| 3 | g.191375222C>T | CA2755290 | CCDC50 | c.609C>T (p.Ser203=) c.449-4937C>T (n.449-4937C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.191375223C>A | CA355764104 | CCDC50 | c.610C>A (p.Leu204Met) c.449-4936C>A (n.449-4936C>A) | |
| 3 | g.191375223C>G | CA355764105 | CCDC50 | c.610C>G (p.Leu204Val) c.449-4936C>G (n.449-4936C>G) | |
| 3 | g.191375223C>T | CA437422199 | CCDC50 | c.610C>T (p.Leu204=) c.449-4936C>T (n.449-4936C>T) | |
| 3 | g.191375224T>A | CA355764108 | CCDC50 | c.611T>A (p.Leu204Gln) c.449-4935T>A (n.449-4935T>A) | |
| 3 | g.191375224T>C | CA355764107 | CCDC50 | c.611T>C (p.Leu204Pro) c.449-4935T>C (n.449-4935T>C) | |
| 3 | g.191375224T>G | CA355764106 | CCDC50 | c.611T>G (p.Leu204Arg) c.449-4935T>G (n.449-4935T>G) | |
| 3 | g.191375225G>A | CA437422200 | CCDC50 | c.612G>A (p.Leu204=) c.449-4934G>A (n.449-4934G>A) | gnomAD v4 |
| 3 | g.191375225G>C | CA437422201 | CCDC50 | c.612G>C (p.Leu204=) c.449-4934G>C (n.449-4934G>C) | |
| 3 | g.191375225G>T | CA437422202 | CCDC50 | c.612G>T (p.Leu204=) c.449-4934G>T (n.449-4934G>T) | COSMIC |
| 3 | g.191375226T>A | CA355764109 | CCDC50 | c.613T>A (p.Ser205Thr) c.449-4933T>A (n.449-4933T>A) | |
| 3 | g.191375226T>C | CA355764110 | CCDC50 | c.613T>C (p.Ser205Pro) c.449-4933T>C (n.449-4933T>C) | |
| 3 | g.191375226T>G | CA355764111 | CCDC50 | c.613T>G (p.Ser205Ala) c.449-4933T>G (n.449-4933T>G) | |
| 3 | g.191375227C>A | CA355764112 | CCDC50 | c.614C>A (p.Ser205Ter) c.449-4932C>A (n.449-4932C>A) | gnomAD v4 |
| 3 | g.191375227C= | CA1429222183 | CCDC50 | c.614C= (p.Ser205=) c.449-4932C= (n.449-4932C=) | |
| 3 | g.191375227C>G | CA355764113 | CCDC50 | c.614C>G (p.Ser205Ter) c.449-4932C>G (n.449-4932C>G) | |
| 3 | g.191375227C>T | CA2755291 | CCDC50 | c.614C>T (p.Ser205Leu) c.449-4932C>T (n.449-4932C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.191375228A>C | CA437422204 | CCDC50 | c.615A>C (p.Ser205=) c.449-4931A>C (n.449-4931A>C) | |
| 3 | g.191375228A>G | CA437422205 | CCDC50 | c.615A>G (p.Ser205=) c.449-4931A>G (n.449-4931A>G) | gnomAD v4 |
| 3 | g.191375228A>T | CA437422203 | CCDC50 | c.615A>T (p.Ser205=) c.449-4931A>T (n.449-4931A>T) | gnomAD v4 |
| 3 | g.191375229T>A | CA355764114 | CCDC50 | c.616T>A (p.Ser206Thr) c.449-4930T>A (n.449-4930T>A) | |
| 3 | g.191375229T>C | CA355764115 | CCDC50 | c.616T>C (p.Ser206Pro) c.449-4930T>C (n.449-4930T>C) | |
| 3 | g.191375229T>G | CA355764116 | CCDC50 | c.616T>G (p.Ser206Ala) c.449-4930T>G (n.449-4930T>G) | |
| 3 | g.191375230C>A | CA355764117 | CCDC50 | c.617C>A (p.Ser206Tyr) c.449-4929C>A (n.449-4929C>A) | |
| 3 | g.191375230C= | CA1429222184 | CCDC50 | c.617C= (p.Ser206=) c.449-4929C= (n.449-4929C=) | |
| 3 | g.191375230C>G | CA355764118 | CCDC50 | c.617C>G (p.Ser206Cys) c.449-4929C>G (n.449-4929C>G) | |
| 3 | g.191375230C>T | CA2755292 | CCDC50 | c.617C>T (p.Ser206Phe) c.449-4929C>T (n.449-4929C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.191375231C>A | CA437422206 | CCDC50 | c.618C>A (p.Ser206=) c.449-4928C>A (n.449-4928C>A) | gnomAD v4 |
| 3 | g.191375231C>G | CA437422207 | CCDC50 | c.618C>G (p.Ser206=) c.449-4928C>G (n.449-4928C>G) | |
| 3 | g.191375231C>T | CA437422208 | CCDC50 | c.618C>T (p.Ser206=) c.449-4928C>T (n.449-4928C>T) | gnomAD v4 |
| 3 | g.191375232T>A | CA355764121 | CCDC50 | c.619T>A (p.Ser207Thr) c.449-4927T>A (n.449-4927T>A) | |
| 3 | g.191375232T>C | CA355764120 | CCDC50 | c.619T>C (p.Ser207Pro) c.449-4927T>C (n.449-4927T>C) | |
| 3 | g.191375232T>G | CA355764119 | CCDC50 | c.619T>G (p.Ser207Ala) c.449-4927T>G (n.449-4927T>G) | |
| 3 | g.191375233C>A | CA355764122 | CCDC50 | c.620C>A (p.Ser207Tyr) c.449-4926C>A (n.449-4926C>A) | |
| 3 | g.191375233C= | CA1429222185 | CCDC50 | c.620C= (p.Ser207=) c.449-4926C= (n.449-4926C=) | |
| 3 | g.191375233C>G | CA355764123 | CCDC50 | c.620C>G (p.Ser207Cys) c.449-4926C>G (n.449-4926C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.191375233C>T | CA2755293 | CCDC50 | c.620C>T (p.Ser207Phe) c.449-4926C>T (n.449-4926C>T) | ClinVar dbSNP ExAC gnomAD v4 |
| 3 | g.191375234T>A | CA437422209 | CCDC50 | c.621T>A (p.Ser207=) c.449-4925T>A (n.449-4925T>A) | |
| 3 | g.191375234T>C | CA437422210 | CCDC50 | c.621T>C (p.Ser207=) c.449-4925T>C (n.449-4925T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.191375234T>G | CA437422211 | CCDC50 | c.621T>G (p.Ser207=) c.449-4925T>G (n.449-4925T>G) | |
| 3 | g.191375234T= | CA1429222186 | CCDC50 | c.621T= (p.Ser207=) c.449-4925T= (n.449-4925T=) | |
| 3 | g.191375235A= | CA1429222187 | CCDC50 | c.622A= (p.Ser208=) c.449-4924A= (n.449-4924A=) | |
| 3 | g.191375235A>C | CA355764124 | CCDC50 | c.622A>C (p.Ser208Arg) c.449-4924A>C (n.449-4924A>C) | |
| 3 | g.191375235A>G | CA2755294 | CCDC50 | c.622A>G (p.Ser208Gly) c.449-4924A>G (n.449-4924A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.191375235A>T | CA355764125 | CCDC50 | c.622A>T (p.Ser208Cys) c.449-4924A>T (n.449-4924A>T) | |
| 3 | g.191375236G>A | CA355764126 | CCDC50 | c.623G>A (p.Ser208Asn) c.449-4923G>A (n.449-4923G>A) | |
| 3 | g.191375236G>C | CA355764127 | CCDC50 | c.623G>C (p.Ser208Thr) c.449-4923G>C (n.449-4923G>C) | |
| 3 | g.191375236G= | CA1429222188 | CCDC50 | c.623G= (p.Ser208=) c.449-4923G= (n.449-4923G=) | |
| 3 | g.191375236G>T | CA355764128 | CCDC50 | c.623G>T (p.Ser208Ile) c.449-4923G>T (n.449-4923G>T) | dbSNP |
| 3 | g.191375237C>A | CA355764129 | CCDC50 | c.624C>A (p.Ser208Arg) c.449-4922C>A (n.449-4922C>A) | |
| 3 | g.191375237C>G | CA355764130 | CCDC50 | c.624C>G (p.Ser208Arg) c.449-4922C>G (n.449-4922C>G) | |
| 3 | g.191375237C>T | CA437637526 | CCDC50 | c.624C>T (p.Ser208=) c.449-4922C>T (n.449-4922C>T) | |
| 3 | g.191375238T>A | CA355764131 | CCDC50 | c.625T>A (p.Ser209Thr) c.449-4921T>A (n.449-4921T>A) | |
| 3 | g.191375238T>C | CA355764132 | CCDC50 | c.625T>C (p.Ser209Pro) c.449-4921T>C (n.449-4921T>C) | |
| 3 | g.191375238T>G | CA355764133 | CCDC50 | c.625T>G (p.Ser209Ala) c.449-4921T>G (n.449-4921T>G) | |
| 3 | g.191375239C>A | CA355764135 | CCDC50 | c.626C>A (p.Ser209Ter) c.449-4920C>A (n.449-4920C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.191375239C= | CA1429222189 | CCDC50 | c.626C= (p.Ser209=) c.449-4920C= (n.449-4920C=) | |
| 3 | g.191375239C>G | CA355764134 | CCDC50 | c.626C>G (p.Ser209Trp) c.449-4920C>G (n.449-4920C>G) | |
| 3 | g.191375239C>T | CA182632 | CCDC50 | c.626C>T (p.Ser209Leu) c.449-4920C>T (n.449-4920C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.191375240G>A | CA2755295 | CCDC50 | c.627G>A (p.Ser209=) c.449-4919G>A (n.449-4919G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.191375240G>C | CA437637528 | CCDC50 | c.627G>C (p.Ser209=) c.449-4919G>C (n.449-4919G>C) | |
| 3 | g.191375240G= | CA1429222190 | CCDC50 | c.627G= (p.Ser209=) c.449-4919G= (n.449-4919G=) | |
| 3 | g.191375240G>T | CA437637530 | CCDC50 | c.627G>T (p.Ser209=) c.449-4919G>T (n.449-4919G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.191375241G>A | CA355764136 | CCDC50 | c.628G>A (p.Gly210Ser) c.449-4918G>A (n.449-4918G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.191375241G>C | CA355764137 | CCDC50 | c.628G>C (p.Gly210Arg) c.449-4918G>C (n.449-4918G>C) | |
| 3 | g.191375241G= | CA1429222191 | CCDC50 | c.628G= (p.Gly210=) c.449-4918G= (n.449-4918G=) | |
| 3 | g.191375241G>T | CA355764138 | CCDC50 | c.628G>T (p.Gly210Cys) c.449-4918G>T (n.449-4918G>T) | |
| 3 | g.191375242G>A | CA355764139 | CCDC50 | c.629G>A (p.Gly210Asp) c.449-4917G>A (n.449-4917G>A) | |
| 3 | g.191375242G>C | CA355764140 | CCDC50 | c.629G>C (p.Gly210Ala) c.449-4917G>C (n.449-4917G>C) | |
| 3 | g.191375242G= | CA1429222192 | CCDC50 | c.629G= (p.Gly210=) c.449-4917G= (n.449-4917G=) | |
| 3 | g.191375242G>T | CA355764141 | CCDC50 | c.629G>T (p.Gly210Val) c.449-4917G>T (n.449-4917G>T) | ClinVar dbSNP |
| 3 | g.191375243C>A | CA437637532 | CCDC50 | c.630C>A (p.Gly210=) c.449-4916C>A (n.449-4916C>A) | |
| 3 | g.191375243C>G | CA437637533 | CCDC50 | c.630C>G (p.Gly210=) c.449-4916C>G (n.449-4916C>G) | |
| 3 | g.191375243C>T | CA437637535 | CCDC50 | c.630C>T (p.Gly210=) c.449-4916C>T (n.449-4916C>T) | gnomAD v4 |
| 3 | g.191375244A>C | CA355764142 | CCDC50 | c.631A>C (p.Lys211Gln) c.449-4915A>C (n.449-4915A>C) | |
| 3 | g.191375244A>G | CA355764143 | CCDC50 | c.631A>G (p.Lys211Glu) c.449-4915A>G (n.449-4915A>G) | |
| 3 | g.191375244A>T | CA355764144 | CCDC50 | c.631A>T (p.Lys211Ter) c.449-4915A>T (n.449-4915A>T) |