Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.45910509_45910515del | CA2641629113 | EPG5 | n.2389+6_2389+12del c.4205+6_4205+12del (n.4205+6_4205+12del) c.3945+6_3945+12del (n.3945+6_3945+12del) n.984+6_984+12del c.830+6_830+12del (n.830+6_830+12del) n.4240+6_4240+12del c.4232+6_4232+12del (n.4232+6_4232+12del) c.4091+6_4091+12del (n.4091+6_4091+12del) c.3167+6_3167+12del (n.3167+6_3167+12del) n.4305+6_4305+12del c.4064+6_4064+12del (n.4064+6_4064+12del) c.3140+6_3140+12del (n.3140+6_3140+12del) n.4287+6_4287+12del | gnomAD v4 |
18 | g.45910515A>G | CA2641629135 | EPG5 | n.2389+6T>C c.4205+6T>C (n.4205+6T>C) c.3945+6T>C (n.3945+6T>C) n.984+6T>C c.830+6T>C (n.830+6T>C) n.4240+6T>C c.4232+6T>C (n.4232+6T>C) c.4091+6T>C (n.4091+6T>C) c.3167+6T>C (n.3167+6T>C) n.4305+6T>C c.4064+6T>C (n.4064+6T>C) c.3140+6T>C (n.3140+6T>C) n.4287+6T>C | gnomAD v4 |
18 | g.45910516C= | CA2300590835 | EPG5 | n.2389+5G= c.4205+5G= (n.4205+5G=) c.3945+5G= (n.3945+5G=) n.984+5G= c.830+5G= (n.830+5G=) n.4240+5G= c.4232+5G= (n.4232+5G=) c.4091+5G= (n.4091+5G=) c.3167+5G= (n.3167+5G=) n.4305+5G= c.4064+5G= (n.4064+5G=) c.3140+5G= (n.3140+5G=) n.4287+5G= | |
18 | g.45910516C>T | CA2300590836 | EPG5 | n.2389+5G>A c.4205+5G>A (n.4205+5G>A) c.3945+5G>A (n.3945+5G>A) n.984+5G>A c.830+5G>A (n.830+5G>A) n.4240+5G>A c.4232+5G>A (n.4232+5G>A) c.4091+5G>A (n.4091+5G>A) c.3167+5G>A (n.3167+5G>A) n.4305+5G>A c.4064+5G>A (n.4064+5G>A) c.3140+5G>A (n.3140+5G>A) n.4287+5G>A | dbSNP gnomAD v3 gnomAD v4 |
18 | g.45910518_45910544del | CA2739268686 | EPG5 | n.2368_2389+5del c.4184_4205+5del c.3924_3945+5del n.963_984+5del c.809_830+5del n.4219_4240+5del c.4211_4232+5del c.4070_4091+5del c.3146_3167+5del n.4284_4305+5del c.4043_4064+5del c.3119_3140+5del n.4266_4287+5del | ClinVar |
18 | g.45910517T>A | CA989865682 | EPG5 | n.2389+4A>T c.4205+4A>T (n.4205+4A>T) c.3945+4A>T (n.3945+4A>T) n.984+4A>T c.830+4A>T (n.830+4A>T) n.4240+4A>T c.4232+4A>T (n.4232+4A>T) c.4091+4A>T (n.4091+4A>T) c.3167+4A>T (n.3167+4A>T) n.4305+4A>T c.4064+4A>T (n.4064+4A>T) c.3140+4A>T (n.3140+4A>T) n.4287+4A>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
18 | g.45910517T>C | CA629923989 | EPG5 | n.2389+4A>G c.4205+4A>G (n.4205+4A>G) c.3945+4A>G (n.3945+4A>G) n.984+4A>G c.830+4A>G (n.830+4A>G) n.4240+4A>G c.4232+4A>G (n.4232+4A>G) c.4091+4A>G (n.4091+4A>G) c.3167+4A>G (n.3167+4A>G) n.4305+4A>G c.4064+4A>G (n.4064+4A>G) c.3140+4A>G (n.3140+4A>G) n.4287+4A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.45910517T= | CA2300590837 | EPG5 | n.2389+4A= c.4205+4A= (n.4205+4A=) c.3945+4A= (n.3945+4A=) n.984+4A= c.830+4A= (n.830+4A=) n.4240+4A= c.4232+4A= (n.4232+4A=) c.4091+4A= (n.4091+4A=) c.3167+4A= (n.3167+4A=) n.4305+4A= c.4064+4A= (n.4064+4A=) c.3140+4A= (n.3140+4A=) n.4287+4A= | |
18 | g.45910518C>A | CA629923990 | EPG5 | n.2389+3G>T c.4205+3G>T (n.4205+3G>T) c.3945+3G>T (n.3945+3G>T) n.984+3G>T c.830+3G>T (n.830+3G>T) n.4240+3G>T c.4232+3G>T (n.4232+3G>T) c.4091+3G>T (n.4091+3G>T) c.3167+3G>T (n.3167+3G>T) n.4305+3G>T c.4064+3G>T (n.4064+3G>T) c.3140+3G>T (n.3140+3G>T) n.4287+3G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.45910518C= | CA2300590838 | EPG5 | n.2389+3G= c.4205+3G= (n.4205+3G=) c.3945+3G= (n.3945+3G=) n.984+3G= c.830+3G= (n.830+3G=) n.4240+3G= c.4232+3G= (n.4232+3G=) c.4091+3G= (n.4091+3G=) c.3167+3G= (n.3167+3G=) n.4305+3G= c.4064+3G= (n.4064+3G=) c.3140+3G= (n.3140+3G=) n.4287+3G= | |
18 | g.45910518C>G | CA2641629150 | EPG5 | n.2389+3G>C c.4205+3G>C (n.4205+3G>C) c.3945+3G>C (n.3945+3G>C) n.984+3G>C c.830+3G>C (n.830+3G>C) n.4240+3G>C c.4232+3G>C (n.4232+3G>C) c.4091+3G>C (n.4091+3G>C) c.3167+3G>C (n.3167+3G>C) n.4305+3G>C c.4064+3G>C (n.4064+3G>C) c.3140+3G>C (n.3140+3G>C) n.4287+3G>C | gnomAD v4 |
18 | g.45910518C>T | CA2641629151 | EPG5 | n.2389+3G>A c.4205+3G>A (n.4205+3G>A) c.3945+3G>A (n.3945+3G>A) n.984+3G>A c.830+3G>A (n.830+3G>A) n.4240+3G>A c.4232+3G>A (n.4232+3G>A) c.4091+3G>A (n.4091+3G>A) c.3167+3G>A (n.3167+3G>A) n.4305+3G>A c.4064+3G>A (n.4064+3G>A) c.3140+3G>A (n.3140+3G>A) n.4287+3G>A | gnomAD v4 |
18 | g.45910519_45910521del | CA2641629148 | EPG5 | n.2389+1_2389+3del c.4205+1_4205+3del c.3945+1_3945+3del n.984+1_984+3del c.830+1_830+3del n.4240+1_4240+3del c.4232+1_4232+3del c.4091+1_4091+3del c.3167+1_3167+3del n.4305+1_4305+3del c.4064+1_4064+3del c.3140+1_3140+3del n.4287+1_4287+3del | gnomAD v4 |
18 | g.45910519A>C | CA402339678 | EPG5 | n.2389+2T>G c.4205+2T>G (n.4205+2T>G) c.3945+2T>G (n.3945+2T>G) n.984+2T>G c.830+2T>G (n.830+2T>G) n.4240+2T>G c.4232+2T>G (n.4232+2T>G) c.4091+2T>G (n.4091+2T>G) c.3167+2T>G (n.3167+2T>G) n.4305+2T>G c.4064+2T>G (n.4064+2T>G) c.3140+2T>G (n.3140+2T>G) n.4287+2T>G | |
18 | g.45910519A>G | CA402339680 | EPG5 | n.2389+2T>C c.4205+2T>C (n.4205+2T>C) c.3945+2T>C (n.3945+2T>C) n.984+2T>C c.830+2T>C (n.830+2T>C) n.4240+2T>C c.4232+2T>C (n.4232+2T>C) c.4091+2T>C (n.4091+2T>C) c.3167+2T>C (n.3167+2T>C) n.4305+2T>C c.4064+2T>C (n.4064+2T>C) c.3140+2T>C (n.3140+2T>C) n.4287+2T>C | |
18 | g.45910519A>T | CA402339681 | EPG5 | n.2389+2T>A c.4205+2T>A (n.4205+2T>A) c.3945+2T>A (n.3945+2T>A) n.984+2T>A c.830+2T>A (n.830+2T>A) n.4240+2T>A c.4232+2T>A (n.4232+2T>A) c.4091+2T>A (n.4091+2T>A) c.3167+2T>A (n.3167+2T>A) n.4305+2T>A c.4064+2T>A (n.4064+2T>A) c.3140+2T>A (n.3140+2T>A) n.4287+2T>A | |
18 | g.45910520C>A | CA402339687 | EPG5 | n.2389+1G>T c.4205+1G>T (n.4205+1G>T) c.3945+1G>T (n.3945+1G>T) n.984+1G>T c.830+1G>T (n.830+1G>T) n.4240+1G>T c.4232+1G>T (n.4232+1G>T) c.4091+1G>T (n.4091+1G>T) c.3167+1G>T (n.3167+1G>T) n.4305+1G>T c.4064+1G>T (n.4064+1G>T) c.3140+1G>T (n.3140+1G>T) n.4287+1G>T | |
18 | g.45910520C>G | CA402339685 | EPG5 | n.2389+1G>C c.4205+1G>C (n.4205+1G>C) c.3945+1G>C (n.3945+1G>C) n.984+1G>C c.830+1G>C (n.830+1G>C) n.4240+1G>C c.4232+1G>C (n.4232+1G>C) c.4091+1G>C (n.4091+1G>C) c.3167+1G>C (n.3167+1G>C) n.4305+1G>C c.4064+1G>C (n.4064+1G>C) c.3140+1G>C (n.3140+1G>C) n.4287+1G>C | |
18 | g.45910520C>T | CA402339684 | EPG5 | n.2389+1G>A c.4205+1G>A (n.4205+1G>A) c.3945+1G>A (n.3945+1G>A) n.984+1G>A c.830+1G>A (n.830+1G>A) n.4240+1G>A c.4232+1G>A (n.4232+1G>A) c.4091+1G>A (n.4091+1G>A) c.3167+1G>A (n.3167+1G>A) n.4305+1G>A c.4064+1G>A (n.4064+1G>A) c.3140+1G>A (n.3140+1G>A) n.4287+1G>A | |
18 | g.45910521C>A | CA402339690 | EPG5 | n.2389G>T c.4205G>T (p.Arg1402Met) c.3945G>T (n.3945G>T) n.984G>T c.830G>T (p.Arg277Met) n.4240G>T c.4232G>T (p.Arg1411Met) c.4091G>T (p.Arg1364Met) c.3167G>T (p.Arg1056Met) n.4305G>T c.4064G>T (p.Arg1355Met) c.3140G>T (p.Arg1047Met) n.4287G>T | |
18 | g.45910521C= | CA2300590839 | EPG5 | n.2389G= c.4205G= (p.Arg1402=) c.3945G= (n.3945G=) n.984G= c.830G= (p.Arg277=) n.4240G= c.4232G= (p.Arg1411=) c.4091G= (p.Arg1364=) c.3167G= (p.Arg1056=) n.4305G= c.4064G= (p.Arg1355=) c.3140G= (p.Arg1047=) n.4287G= | |
18 | g.45910521C>G | CA402339691 | EPG5 | n.2389G>C c.4205G>C (p.Arg1402Thr) c.3945G>C (n.3945G>C) n.984G>C c.830G>C (p.Arg277Thr) n.4240G>C c.4232G>C (p.Arg1411Thr) c.4091G>C (p.Arg1364Thr) c.3167G>C (p.Arg1056Thr) n.4305G>C c.4064G>C (p.Arg1355Thr) c.3140G>C (p.Arg1047Thr) n.4287G>C | |
18 | g.45910521C>T | CA8948960 | EPG5 | n.2389G>A c.4205G>A (p.Arg1402Lys) c.3945G>A (n.3945G>A) n.984G>A c.830G>A (p.Arg277Lys) n.4240G>A c.4232G>A (p.Arg1411Lys) c.4091G>A (p.Arg1364Lys) c.3167G>A (p.Arg1056Lys) n.4305G>A c.4064G>A (p.Arg1355Lys) c.3140G>A (p.Arg1047Lys) n.4287G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.45910521_45910522insGGTGG | CA2641629155 | EPG5 | n.2388_2389insCCACC c.4204_4205insCCACC (p.Arg1402ThrfsTer12) c.3944_3945insCCACC (n.3944_3945insCCACC) n.983_984insCCACC c.829_830insCCACC (p.Arg277ThrfsTer12) n.4239_4240insCCACC c.4231_4232insCCACC (p.Arg1411ThrfsTer12) c.4090_4091insCCACC (p.Arg1364ThrfsTer12) c.3166_3167insCCACC (p.Arg1056ThrfsTer12) n.4304_4305insCCACC c.4063_4064insCCACC (p.Arg1355ThrfsTer12) c.3139_3140insCCACC (p.Arg1047ThrfsTer12) n.4286_4287insCCACC | gnomAD v4 |
18 | g.45910522T>A | CA402339695 | EPG5 | n.2388A>T c.4204A>T (p.Arg1402Trp) c.3944A>T (n.3944A>T) n.983A>T c.829A>T (p.Arg277Trp) n.4239A>T c.4231A>T (p.Arg1411Trp) c.4090A>T (p.Arg1364Trp) c.3166A>T (p.Arg1056Trp) n.4304A>T c.4063A>T (p.Arg1355Trp) c.3139A>T (p.Arg1047Trp) n.4286A>T | |
18 | g.45910522T>C | CA402339696 | EPG5 | n.2388A>G c.4204A>G (p.Arg1402Gly) c.3944A>G (n.3944A>G) n.983A>G c.829A>G (p.Arg277Gly) n.4239A>G c.4231A>G (p.Arg1411Gly) c.4090A>G (p.Arg1364Gly) c.3166A>G (p.Arg1056Gly) n.4304A>G c.4063A>G (p.Arg1355Gly) c.3139A>G (p.Arg1047Gly) n.4286A>G | |
18 | g.45910522T>G | CA503793627 | EPG5 | n.2388A>C c.4204A>C (p.Arg1402=) c.3944A>C (n.3944A>C) n.983A>C c.829A>C (p.Arg277=) n.4239A>C c.4231A>C (p.Arg1411=) c.4090A>C (p.Arg1364=) c.3166A>C (p.Arg1056=) n.4304A>C c.4063A>C (p.Arg1355=) c.3139A>C (p.Arg1047=) n.4286A>C | |
18 | g.45910523C>A | CA503793628 | EPG5 | n.2387G>T c.4203G>T (p.Val1401=) c.3943G>T (n.3943G>T) n.982G>T c.828G>T (p.Val276=) n.4238G>T c.4230G>T (p.Val1410=) c.4089G>T (p.Val1363=) c.3165G>T (p.Val1055=) n.4303G>T c.4062G>T (p.Val1354=) c.3138G>T (p.Val1046=) n.4285G>T | |
18 | g.45910523C= | CA2300590840 | EPG5 | n.2387G= c.4203G= (p.Val1401=) c.3943G= (n.3943G=) n.982G= c.828G= (p.Val276=) n.4238G= c.4230G= (p.Val1410=) c.4089G= (p.Val1363=) c.3165G= (p.Val1055=) n.4303G= c.4062G= (p.Val1354=) c.3138G= (p.Val1046=) n.4285G= | |
18 | g.45910523C>G | CA503793629 | EPG5 | n.2387G>C c.4203G>C (p.Val1401=) c.3943G>C (n.3943G>C) n.982G>C c.828G>C (p.Val276=) n.4238G>C c.4230G>C (p.Val1410=) c.4089G>C (p.Val1363=) c.3165G>C (p.Val1055=) n.4303G>C c.4062G>C (p.Val1354=) c.3138G>C (p.Val1046=) n.4285G>C | |
18 | g.45910523C>T | CA8948961 | EPG5 | n.2387G>A c.4203G>A (p.Val1401=) c.3943G>A (n.3943G>A) n.982G>A c.828G>A (p.Val276=) n.4238G>A c.4230G>A (p.Val1410=) c.4089G>A (p.Val1363=) c.3165G>A (p.Val1055=) n.4303G>A c.4062G>A (p.Val1354=) c.3138G>A (p.Val1046=) n.4285G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.45910524A>C | CA402339699 | EPG5 | n.2386T>G c.4202T>G (p.Val1401Gly) c.3942T>G (n.3942T>G) n.981T>G c.827T>G (p.Val276Gly) n.4237T>G c.4229T>G (p.Val1410Gly) c.4088T>G (p.Val1363Gly) c.3164T>G (p.Val1055Gly) n.4302T>G c.4061T>G (p.Val1354Gly) c.3137T>G (p.Val1046Gly) n.4284T>G | |
18 | g.45910524A>G | CA402339701 | EPG5 | n.2386T>C c.4202T>C (p.Val1401Ala) c.3942T>C (n.3942T>C) n.981T>C c.827T>C (p.Val276Ala) n.4237T>C c.4229T>C (p.Val1410Ala) c.4088T>C (p.Val1363Ala) c.3164T>C (p.Val1055Ala) n.4302T>C c.4061T>C (p.Val1354Ala) c.3137T>C (p.Val1046Ala) n.4284T>C | gnomAD v4 |
18 | g.45910524A>T | CA402339703 | EPG5 | n.2386T>A c.4202T>A (p.Val1401Glu) c.3942T>A (n.3942T>A) n.981T>A c.827T>A (p.Val276Glu) n.4237T>A c.4229T>A (p.Val1410Glu) c.4088T>A (p.Val1363Glu) c.3164T>A (p.Val1055Glu) n.4302T>A c.4061T>A (p.Val1354Glu) c.3137T>A (p.Val1046Glu) n.4284T>A | |
18 | g.45910525C>A | CA402339705 | EPG5 | n.2385G>T c.4201G>T (p.Val1401Leu) c.3941G>T (n.3941G>T) n.980G>T c.826G>T (p.Val276Leu) n.4236G>T c.4228G>T (p.Val1410Leu) c.4087G>T (p.Val1363Leu) c.3163G>T (p.Val1055Leu) n.4301G>T c.4060G>T (p.Val1354Leu) c.3136G>T (p.Val1046Leu) n.4283G>T | |
18 | g.45910525C= | CA2300590841 | EPG5 | n.2385G= c.4201G= (p.Val1401=) c.3941G= (n.3941G=) n.980G= c.826G= (p.Val276=) n.4236G= c.4228G= (p.Val1410=) c.4087G= (p.Val1363=) c.3163G= (p.Val1055=) n.4301G= c.4060G= (p.Val1354=) c.3136G= (p.Val1046=) n.4283G= | |
18 | g.45910525C>G | CA299760271 | EPG5 | n.2385G>C c.4201G>C (p.Val1401Leu) c.3941G>C (n.3941G>C) n.980G>C c.826G>C (p.Val276Leu) n.4236G>C c.4228G>C (p.Val1410Leu) c.4087G>C (p.Val1363Leu) c.3163G>C (p.Val1055Leu) n.4301G>C c.4060G>C (p.Val1354Leu) c.3136G>C (p.Val1046Leu) n.4283G>C | dbSNP |
18 | g.45910525C>T | CA299760273 | EPG5 | n.2385G>A c.4201G>A (p.Val1401Met) c.3941G>A (n.3941G>A) n.980G>A c.826G>A (p.Val276Met) n.4236G>A c.4228G>A (p.Val1410Met) c.4087G>A (p.Val1363Met) c.3163G>A (p.Val1055Met) n.4301G>A c.4060G>A (p.Val1354Met) c.3136G>A (p.Val1046Met) n.4283G>A | dbSNP gnomAD v4 |
18 | g.45910526C>A | CA503793631 | EPG5 | n.2384G>T c.4200G>T (p.Leu1400=) c.3940G>T (n.3940G>T) n.979G>T c.825G>T (p.Leu275=) n.4235G>T c.4227G>T (p.Leu1409=) c.4086G>T (p.Leu1362=) c.3162G>T (p.Leu1054=) n.4300G>T c.4059G>T (p.Leu1353=) c.3135G>T (p.Leu1045=) n.4282G>T | |
18 | g.45910526C>G | CA503793632 | EPG5 | n.2384G>C c.4200G>C (p.Leu1400=) c.3940G>C (n.3940G>C) n.979G>C c.825G>C (p.Leu275=) n.4235G>C c.4227G>C (p.Leu1409=) c.4086G>C (p.Leu1362=) c.3162G>C (p.Leu1054=) n.4300G>C c.4059G>C (p.Leu1353=) c.3135G>C (p.Leu1045=) n.4282G>C | |
18 | g.45910526C>T | CA503793633 | EPG5 | n.2384G>A c.4200G>A (p.Leu1400=) c.3940G>A (n.3940G>A) n.979G>A c.825G>A (p.Leu275=) n.4235G>A c.4227G>A (p.Leu1409=) c.4086G>A (p.Leu1362=) c.3162G>A (p.Leu1054=) n.4300G>A c.4059G>A (p.Leu1353=) c.3135G>A (p.Leu1045=) n.4282G>A | |
18 | g.45910526_45910527insGT | CA2641629162 | EPG5 | n.2383_2384insAC c.4199_4200insAC (p.Val1401ArgfsTer2) c.3939_3940insAC (n.3939_3940insAC) n.978_979insAC c.824_825insAC (p.Val276ArgfsTer2) n.4234_4235insAC c.4226_4227insAC (p.Val1410ArgfsTer2) c.4085_4086insAC (p.Val1363ArgfsTer2) c.3161_3162insAC (p.Val1055ArgfsTer2) n.4299_4300insAC c.4058_4059insAC (p.Val1354ArgfsTer2) c.3134_3135insAC (p.Val1046ArgfsTer2) n.4281_4282insAC | gnomAD v4 |
18 | g.45910527del | CA2641629163 | EPG5 | n.2383del c.4199del (p.Leu1400ArgfsTer2) c.3939del (n.3939del) n.978del c.824del (p.Leu275ArgfsTer2) n.4234del c.4226del (p.Leu1409ArgfsTer2) c.4085del (p.Leu1362ArgfsTer2) c.3161del (p.Leu1054ArgfsTer2) n.4299del c.4058del (p.Leu1353ArgfsTer2) c.3134del (p.Leu1045ArgfsTer2) n.4281del | gnomAD v4 |
18 | g.45910527A>C | CA402339713 | EPG5 | n.2383T>G c.4199T>G (p.Leu1400Arg) c.3939T>G (n.3939T>G) n.978T>G c.824T>G (p.Leu275Arg) n.4234T>G c.4226T>G (p.Leu1409Arg) c.4085T>G (p.Leu1362Arg) c.3161T>G (p.Leu1054Arg) n.4299T>G c.4058T>G (p.Leu1353Arg) c.3134T>G (p.Leu1045Arg) n.4281T>G | |
18 | g.45910527A>G | CA402339712 | EPG5 | n.2383T>C c.4199T>C (p.Leu1400Pro) c.3939T>C (n.3939T>C) n.978T>C c.824T>C (p.Leu275Pro) n.4234T>C c.4226T>C (p.Leu1409Pro) c.4085T>C (p.Leu1362Pro) c.3161T>C (p.Leu1054Pro) n.4299T>C c.4058T>C (p.Leu1353Pro) c.3134T>C (p.Leu1045Pro) n.4281T>C | |
18 | g.45910527A>T | CA402339710 | EPG5 | n.2383T>A c.4199T>A (p.Leu1400Gln) c.3939T>A (n.3939T>A) n.978T>A c.824T>A (p.Leu275Gln) n.4234T>A c.4226T>A (p.Leu1409Gln) c.4085T>A (p.Leu1362Gln) c.3161T>A (p.Leu1054Gln) n.4299T>A c.4058T>A (p.Leu1353Gln) c.3134T>A (p.Leu1045Gln) n.4281T>A | |
18 | g.45910528G>A | CA503793636 | EPG5 | n.2382C>T c.4198C>T (p.Leu1400=) c.3938C>T (n.3938C>T) n.977C>T c.823C>T (p.Leu275=) n.4233C>T c.4225C>T (p.Leu1409=) c.4084C>T (p.Leu1362=) c.3160C>T (p.Leu1054=) n.4298C>T c.4057C>T (p.Leu1353=) c.3133C>T (p.Leu1045=) n.4280C>T | |
18 | g.45910528G>C | CA402339716 | EPG5 | n.2382C>G c.4198C>G (p.Leu1400Val) c.3938C>G (n.3938C>G) n.977C>G c.823C>G (p.Leu275Val) n.4233C>G c.4225C>G (p.Leu1409Val) c.4084C>G (p.Leu1362Val) c.3160C>G (p.Leu1054Val) n.4298C>G c.4057C>G (p.Leu1353Val) c.3133C>G (p.Leu1045Val) n.4280C>G | |
18 | g.45910528G>T | CA402339718 | EPG5 | n.2382C>A c.4198C>A (p.Leu1400Met) c.3938C>A (n.3938C>A) n.977C>A c.823C>A (p.Leu275Met) n.4233C>A c.4225C>A (p.Leu1409Met) c.4084C>A (p.Leu1362Met) c.3160C>A (p.Leu1054Met) n.4298C>A c.4057C>A (p.Leu1353Met) c.3133C>A (p.Leu1045Met) n.4280C>A | |
18 | g.45910528_45910529del | CA2641629165 | EPG5 | n.2381_2382del c.4197_4198del (p.Glu1399AspfsTer15) c.3937_3938del (n.3937_3938del) n.976_977del c.822_823del (p.Glu274AspfsTer15) n.4232_4233del c.4224_4225del (p.Glu1408AspfsTer15) c.4083_4084del (p.Glu1361AspfsTer15) c.3159_3160del (p.Glu1053AspfsTer15) n.4297_4298del c.4056_4057del (p.Glu1352AspfsTer15) c.3132_3133del (p.Glu1044AspfsTer15) n.4279_4280del | gnomAD v4 |
18 | g.45910529C>A | CA402339720 | EPG5 | n.2381G>T c.4197G>T (p.Glu1399Asp) c.3937G>T (n.3937G>T) n.976G>T c.822G>T (p.Glu274Asp) n.4232G>T c.4224G>T (p.Glu1408Asp) c.4083G>T (p.Glu1361Asp) c.3159G>T (p.Glu1053Asp) n.4297G>T c.4056G>T (p.Glu1352Asp) c.3132G>T (p.Glu1044Asp) n.4279G>T | |
18 | g.45910529C>G | CA402339721 | EPG5 | n.2381G>C c.4197G>C (p.Glu1399Asp) c.3937G>C (n.3937G>C) n.976G>C c.822G>C (p.Glu274Asp) n.4232G>C c.4224G>C (p.Glu1408Asp) c.4083G>C (p.Glu1361Asp) c.3159G>C (p.Glu1053Asp) n.4297G>C c.4056G>C (p.Glu1352Asp) c.3132G>C (p.Glu1044Asp) n.4279G>C | |
18 | g.45910529C>T | CA503793637 | EPG5 | n.2381G>A c.4197G>A (p.Glu1399=) c.3937G>A (n.3937G>A) n.976G>A c.822G>A (p.Glu274=) n.4232G>A c.4224G>A (p.Glu1408=) c.4083G>A (p.Glu1361=) c.3159G>A (p.Glu1053=) n.4297G>A c.4056G>A (p.Glu1352=) c.3132G>A (p.Glu1044=) n.4279G>A | |
18 | g.45910529_45910530insA | CA2641629172 | EPG5 | n.2380_2381insT c.4196_4197insT (p.Glu1399AspfsTer16) c.3936_3937insT (n.3936_3937insT) n.975_976insT c.821_822insT (p.Glu274AspfsTer16) n.4231_4232insT c.4223_4224insT (p.Glu1408AspfsTer16) c.4082_4083insT (p.Glu1361AspfsTer16) c.3158_3159insT (p.Glu1053AspfsTer16) n.4296_4297insT c.4055_4056insT (p.Glu1352AspfsTer16) c.3131_3132insT (p.Glu1044AspfsTer16) n.4278_4279insT | gnomAD v4 |
18 | g.45910530T>A | CA402339724 | EPG5 | n.2380A>T c.4196A>T (p.Glu1399Val) c.3936A>T (n.3936A>T) n.975A>T c.821A>T (p.Glu274Val) n.4231A>T c.4223A>T (p.Glu1408Val) c.4082A>T (p.Glu1361Val) c.3158A>T (p.Glu1053Val) n.4296A>T c.4055A>T (p.Glu1352Val) c.3131A>T (p.Glu1044Val) n.4278A>T | |
18 | g.45910530T>C | CA402339725 | EPG5 | n.2380A>G c.4196A>G (p.Glu1399Gly) c.3936A>G (n.3936A>G) n.975A>G c.821A>G (p.Glu274Gly) n.4231A>G c.4223A>G (p.Glu1408Gly) c.4082A>G (p.Glu1361Gly) c.3158A>G (p.Glu1053Gly) n.4296A>G c.4055A>G (p.Glu1352Gly) c.3131A>G (p.Glu1044Gly) n.4278A>G | |
18 | g.45910530T>G | CA402339726 | EPG5 | n.2380A>C c.4196A>C (p.Glu1399Ala) c.3936A>C (n.3936A>C) n.975A>C c.821A>C (p.Glu274Ala) n.4231A>C c.4223A>C (p.Glu1408Ala) c.4082A>C (p.Glu1361Ala) c.3158A>C (p.Glu1053Ala) n.4296A>C c.4055A>C (p.Glu1352Ala) c.3131A>C (p.Glu1044Ala) n.4278A>C | |
18 | g.45910530_45910531delinsAA | CA2573155339 | EPG5 | n.2379_2380delinsTT c.4195_4196delinsTT (p.Glu1399Leu) c.3935_3936delinsTT (n.3935_3936delinsTT) n.974_975delinsTT c.820_821delinsTT (p.Glu274Leu) n.4230_4231delinsTT c.4222_4223delinsTT (p.Glu1408Leu) c.4081_4082delinsTT (p.Glu1361Leu) c.3157_3158delinsTT (p.Glu1053Leu) n.4295_4296delinsTT c.4054_4055delinsTT (p.Glu1352Leu) c.3130_3131delinsTT (p.Glu1044Leu) n.4277_4278delinsTT | ClinVar dbSNP |
18 | g.45910531C>A | CA402339729 | EPG5 | n.2379G>T c.4195G>T (p.Glu1399Ter) c.3935G>T (n.3935G>T) n.974G>T c.820G>T (p.Glu274Ter) n.4230G>T c.4222G>T (p.Glu1408Ter) c.4081G>T (p.Glu1361Ter) c.3157G>T (p.Glu1053Ter) n.4295G>T c.4054G>T (p.Glu1352Ter) c.3130G>T (p.Glu1044Ter) n.4277G>T | ClinVar dbSNP |
18 | g.45910531C= | CA2300590842 | EPG5 | n.2379G= c.4195G= (p.Glu1399=) c.3935G= (n.3935G=) n.974G= c.820G= (p.Glu274=) n.4230G= c.4222G= (p.Glu1408=) c.4081G= (p.Glu1361=) c.3157G= (p.Glu1053=) n.4295G= c.4054G= (p.Glu1352=) c.3130G= (p.Glu1044=) n.4277G= | |
18 | g.45910531C>G | CA402339731 | EPG5 | n.2379G>C c.4195G>C (p.Glu1399Gln) c.3935G>C (n.3935G>C) n.974G>C c.820G>C (p.Glu274Gln) n.4230G>C c.4222G>C (p.Glu1408Gln) c.4081G>C (p.Glu1361Gln) c.3157G>C (p.Glu1053Gln) n.4295G>C c.4054G>C (p.Glu1352Gln) c.3130G>C (p.Glu1044Gln) n.4277G>C | |
18 | g.45910531C>T | CA402339732 | EPG5 | n.2379G>A c.4195G>A (p.Glu1399Lys) c.3935G>A (n.3935G>A) n.974G>A c.820G>A (p.Glu274Lys) n.4230G>A c.4222G>A (p.Glu1408Lys) c.4081G>A (p.Glu1361Lys) c.3157G>A (p.Glu1053Lys) n.4295G>A c.4054G>A (p.Glu1352Lys) c.3130G>A (p.Glu1044Lys) n.4277G>A | gnomAD v4 |
18 | g.45910532C>A | CA402339734 | EPG5 | n.2378G>T c.4194G>T (p.Lys1398Asn) c.3934G>T (n.3934G>T) n.973G>T c.819G>T (p.Lys273Asn) n.4229G>T c.4221G>T (p.Lys1407Asn) c.4080G>T (p.Lys1360Asn) c.3156G>T (p.Lys1052Asn) n.4294G>T c.4053G>T (p.Lys1351Asn) c.3129G>T (p.Lys1043Asn) n.4276G>T | gnomAD v4 |
18 | g.45910532C>G | CA402339736 | EPG5 | n.2378G>C c.4194G>C (p.Lys1398Asn) c.3934G>C (n.3934G>C) n.973G>C c.819G>C (p.Lys273Asn) n.4229G>C c.4221G>C (p.Lys1407Asn) c.4080G>C (p.Lys1360Asn) c.3156G>C (p.Lys1052Asn) n.4294G>C c.4053G>C (p.Lys1351Asn) c.3129G>C (p.Lys1043Asn) n.4276G>C | |
18 | g.45910532C>T | CA503793639 | EPG5 | n.2378G>A c.4194G>A (p.Lys1398=) c.3934G>A (n.3934G>A) n.973G>A c.819G>A (p.Lys273=) n.4229G>A c.4221G>A (p.Lys1407=) c.4080G>A (p.Lys1360=) c.3156G>A (p.Lys1052=) n.4294G>A c.4053G>A (p.Lys1351=) c.3129G>A (p.Lys1043=) n.4276G>A | |
18 | g.45910533T>A | CA402339742 | EPG5 | n.2377A>T c.4193A>T (p.Lys1398Met) c.3933A>T (n.3933A>T) n.972A>T c.818A>T (p.Lys273Met) n.4228A>T c.4220A>T (p.Lys1407Met) c.4079A>T (p.Lys1360Met) c.3155A>T (p.Lys1052Met) n.4293A>T c.4052A>T (p.Lys1351Met) c.3128A>T (p.Lys1043Met) n.4275A>T | |
18 | g.45910533T>C | CA402339740 | EPG5 | n.2377A>G c.4193A>G (p.Lys1398Arg) c.3933A>G (n.3933A>G) n.972A>G c.818A>G (p.Lys273Arg) n.4228A>G c.4220A>G (p.Lys1407Arg) c.4079A>G (p.Lys1360Arg) c.3155A>G (p.Lys1052Arg) n.4293A>G c.4052A>G (p.Lys1351Arg) c.3128A>G (p.Lys1043Arg) n.4275A>G | |
18 | g.45910533T>G | CA402339738 | EPG5 | n.2377A>C c.4193A>C (p.Lys1398Thr) c.3933A>C (n.3933A>C) n.972A>C c.818A>C (p.Lys273Thr) n.4228A>C c.4220A>C (p.Lys1407Thr) c.4079A>C (p.Lys1360Thr) c.3155A>C (p.Lys1052Thr) n.4293A>C c.4052A>C (p.Lys1351Thr) c.3128A>C (p.Lys1043Thr) n.4275A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.45910533T= | CA2300590843 | EPG5 | n.2377A= c.4193A= (p.Lys1398=) c.3933A= (n.3933A=) n.972A= c.818A= (p.Lys273=) n.4228A= c.4220A= (p.Lys1407=) c.4079A= (p.Lys1360=) c.3155A= (p.Lys1052=) n.4293A= c.4052A= (p.Lys1351=) c.3128A= (p.Lys1043=) n.4275A= | |
18 | g.45910534T>A | CA402339745 | EPG5 | n.2376A>T c.4192A>T (p.Lys1398Ter) c.3932A>T (n.3932A>T) n.971A>T c.817A>T (p.Lys273Ter) n.4227A>T c.4219A>T (p.Lys1407Ter) c.4078A>T (p.Lys1360Ter) c.3154A>T (p.Lys1052Ter) n.4292A>T c.4051A>T (p.Lys1351Ter) c.3127A>T (p.Lys1043Ter) n.4274A>T | |
18 | g.45910534T>C | CA402339749 | EPG5 | n.2376A>G c.4192A>G (p.Lys1398Glu) c.3932A>G (n.3932A>G) n.971A>G c.817A>G (p.Lys273Glu) n.4227A>G c.4219A>G (p.Lys1407Glu) c.4078A>G (p.Lys1360Glu) c.3154A>G (p.Lys1052Glu) n.4292A>G c.4051A>G (p.Lys1351Glu) c.3127A>G (p.Lys1043Glu) n.4274A>G | gnomAD v4 |
18 | g.45910534T>G | CA402339747 | EPG5 | n.2376A>C c.4192A>C (p.Lys1398Gln) c.3932A>C (n.3932A>C) n.971A>C c.817A>C (p.Lys273Gln) n.4227A>C c.4219A>C (p.Lys1407Gln) c.4078A>C (p.Lys1360Gln) c.3154A>C (p.Lys1052Gln) n.4292A>C c.4051A>C (p.Lys1351Gln) c.3127A>C (p.Lys1043Gln) n.4274A>C | gnomAD v4 |
18 | g.45910534_45910535insAAAAAAT | CA2641629188 | EPG5 | n.2376_2377insTTTTTTA c.4192_4193insTTTTTTA (p.Lys1398IlefsTer3) c.3932_3933insTTTTTTA (n.3932_3933insTTTTTTA) n.971_972insTTTTTTA c.817_818insTTTTTTA (p.Lys273IlefsTer3) n.4227_4228insTTTTTTA c.4219_4220insTTTTTTA (p.Lys1407IlefsTer3) c.4078_4079insTTTTTTA (p.Lys1360IlefsTer3) c.3154_3155insTTTTTTA (p.Lys1052IlefsTer3) n.4292_4293insTTTTTTA c.4051_4052insTTTTTTA (p.Lys1351IlefsTer3) c.3127_3128insTTTTTTA (p.Lys1043IlefsTer3) n.4274_4275insTTTTTTA | gnomAD v4 |
18 | g.45910535G>A | CA8948962 | EPG5 | n.2375C>T c.4191C>T (p.His1397=) c.3931C>T (n.3931C>T) n.970C>T c.816C>T (p.His272=) n.4226C>T c.4218C>T (p.His1406=) c.4077C>T (p.His1359=) c.3153C>T (p.His1051=) n.4291C>T c.4050C>T (p.His1350=) c.3126C>T (p.His1042=) n.4273C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.45910535G>C | CA402339752 | EPG5 | n.2375C>G c.4191C>G (p.His1397Gln) c.3931C>G (n.3931C>G) n.970C>G c.816C>G (p.His272Gln) n.4226C>G c.4218C>G (p.His1406Gln) c.4077C>G (p.His1359Gln) c.3153C>G (p.His1051Gln) n.4291C>G c.4050C>G (p.His1350Gln) c.3126C>G (p.His1042Gln) n.4273C>G | |
18 | g.45910535G= | CA2300590844 | EPG5 | n.2375C= c.4191C= (p.His1397=) c.3931C= (n.3931C=) n.970C= c.816C= (p.His272=) n.4226C= c.4218C= (p.His1406=) c.4077C= (p.His1359=) c.3153C= (p.His1051=) n.4291C= c.4050C= (p.His1350=) c.3126C= (p.His1042=) n.4273C= | |
18 | g.45910535G>T | CA402339753 | EPG5 | n.2375C>A c.4191C>A (p.His1397Gln) c.3931C>A (n.3931C>A) n.970C>A c.816C>A (p.His272Gln) n.4226C>A c.4218C>A (p.His1406Gln) c.4077C>A (p.His1359Gln) c.3153C>A (p.His1051Gln) n.4291C>A c.4050C>A (p.His1350Gln) c.3126C>A (p.His1042Gln) n.4273C>A | |
18 | g.45910536T>A | CA402339755 | EPG5 | n.2374A>T c.4190A>T (p.His1397Leu) c.3930A>T (n.3930A>T) n.969A>T c.815A>T (p.His272Leu) n.4225A>T c.4217A>T (p.His1406Leu) c.4076A>T (p.His1359Leu) c.3152A>T (p.His1051Leu) n.4290A>T c.4049A>T (p.His1350Leu) c.3125A>T (p.His1042Leu) n.4272A>T | |
18 | g.45910536T>C | CA8948963 | EPG5 | n.2374A>G c.4190A>G (p.His1397Arg) c.3930A>G (n.3930A>G) n.969A>G c.815A>G (p.His272Arg) n.4225A>G c.4217A>G (p.His1406Arg) c.4076A>G (p.His1359Arg) c.3152A>G (p.His1051Arg) n.4290A>G c.4049A>G (p.His1350Arg) c.3125A>G (p.His1042Arg) n.4272A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.45910536T>G | CA402339758 | EPG5 | n.2374A>C c.4190A>C (p.His1397Pro) c.3930A>C (n.3930A>C) n.969A>C c.815A>C (p.His272Pro) n.4225A>C c.4217A>C (p.His1406Pro) c.4076A>C (p.His1359Pro) c.3152A>C (p.His1051Pro) n.4290A>C c.4049A>C (p.His1350Pro) c.3125A>C (p.His1042Pro) n.4272A>C | dbSNP gnomAD v4 |
18 | g.45910536T= | CA2300590845 | EPG5 | n.2374A= c.4190A= (p.His1397=) c.3930A= (n.3930A=) n.969A= c.815A= (p.His272=) n.4225A= c.4217A= (p.His1406=) c.4076A= (p.His1359=) c.3152A= (p.His1051=) n.4290A= c.4049A= (p.His1350=) c.3125A= (p.His1042=) n.4272A= | |
18 | g.45910537G>A | CA402339759 | EPG5 | n.2373C>T c.4189C>T (p.His1397Tyr) c.3929C>T (n.3929C>T) n.968C>T c.814C>T (p.His272Tyr) n.4224C>T c.4216C>T (p.His1406Tyr) c.4075C>T (p.His1359Tyr) c.3151C>T (p.His1051Tyr) n.4289C>T c.4048C>T (p.His1350Tyr) c.3124C>T (p.His1042Tyr) n.4271C>T | gnomAD v4 |
18 | g.45910537G>C | CA402339761 | EPG5 | n.2373C>G c.4189C>G (p.His1397Asp) c.3929C>G (n.3929C>G) n.968C>G c.814C>G (p.His272Asp) n.4224C>G c.4216C>G (p.His1406Asp) c.4075C>G (p.His1359Asp) c.3151C>G (p.His1051Asp) n.4289C>G c.4048C>G (p.His1350Asp) c.3124C>G (p.His1042Asp) n.4271C>G | |
18 | g.45910537G>T | CA402339763 | EPG5 | n.2373C>A c.4189C>A (p.His1397Asn) c.3929C>A (n.3929C>A) n.968C>A c.814C>A (p.His272Asn) n.4224C>A c.4216C>A (p.His1406Asn) c.4075C>A (p.His1359Asn) c.3151C>A (p.His1051Asn) n.4289C>A c.4048C>A (p.His1350Asn) c.3124C>A (p.His1042Asn) n.4271C>A | |
18 | g.45910538C>A | CA503793644 | EPG5 | n.2372G>T c.4188G>T (p.Leu1396=) c.3928G>T (n.3928G>T) n.967G>T c.813G>T (p.Leu271=) n.4223G>T c.4215G>T (p.Leu1405=) c.4074G>T (p.Leu1358=) c.3150G>T (p.Leu1050=) n.4288G>T c.4047G>T (p.Leu1349=) c.3123G>T (p.Leu1041=) n.4270G>T | |
18 | g.45910538C>G | CA503793645 | EPG5 | n.2372G>C c.4188G>C (p.Leu1396=) c.3928G>C (n.3928G>C) n.967G>C c.813G>C (p.Leu271=) n.4223G>C c.4215G>C (p.Leu1405=) c.4074G>C (p.Leu1358=) c.3150G>C (p.Leu1050=) n.4288G>C c.4047G>C (p.Leu1349=) c.3123G>C (p.Leu1041=) n.4270G>C | |
18 | g.45910538C>T | CA503793646 | EPG5 | n.2372G>A c.4188G>A (p.Leu1396=) c.3928G>A (n.3928G>A) n.967G>A c.813G>A (p.Leu271=) n.4223G>A c.4215G>A (p.Leu1405=) c.4074G>A (p.Leu1358=) c.3150G>A (p.Leu1050=) n.4288G>A c.4047G>A (p.Leu1349=) c.3123G>A (p.Leu1041=) n.4270G>A | |
18 | g.45910539A>C | CA402339765 | EPG5 | n.2371T>G c.4187T>G (p.Leu1396Arg) c.3927T>G (n.3927T>G) n.966T>G c.812T>G (p.Leu271Arg) n.4222T>G c.4214T>G (p.Leu1405Arg) c.4073T>G (p.Leu1358Arg) c.3149T>G (p.Leu1050Arg) n.4287T>G c.4046T>G (p.Leu1349Arg) c.3122T>G (p.Leu1041Arg) n.4269T>G | |
18 | g.45910539A>G | CA402339767 | EPG5 | n.2371T>C c.4187T>C (p.Leu1396Pro) c.3927T>C (n.3927T>C) n.966T>C c.812T>C (p.Leu271Pro) n.4222T>C c.4214T>C (p.Leu1405Pro) c.4073T>C (p.Leu1358Pro) c.3149T>C (p.Leu1050Pro) n.4287T>C c.4046T>C (p.Leu1349Pro) c.3122T>C (p.Leu1041Pro) n.4269T>C | |
18 | g.45910539A>T | CA402339769 | EPG5 | n.2371T>A c.4187T>A (p.Leu1396Gln) c.3927T>A (n.3927T>A) n.966T>A c.812T>A (p.Leu271Gln) n.4222T>A c.4214T>A (p.Leu1405Gln) c.4073T>A (p.Leu1358Gln) c.3149T>A (p.Leu1050Gln) n.4287T>A c.4046T>A (p.Leu1349Gln) c.3122T>A (p.Leu1041Gln) n.4269T>A | |
18 | g.45910540G>A | CA503793650 | EPG5 | n.2370C>T c.4186C>T (p.Leu1396=) c.3926C>T (n.3926C>T) n.965C>T c.811C>T (p.Leu271=) n.4221C>T c.4213C>T (p.Leu1405=) c.4072C>T (p.Leu1358=) c.3148C>T (p.Leu1050=) n.4286C>T c.4045C>T (p.Leu1349=) c.3121C>T (p.Leu1041=) n.4268C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
18 | g.45910540G>C | CA402339771 | EPG5 | n.2370C>G c.4186C>G (p.Leu1396Val) c.3926C>G (n.3926C>G) n.965C>G c.811C>G (p.Leu271Val) n.4221C>G c.4213C>G (p.Leu1405Val) c.4072C>G (p.Leu1358Val) c.3148C>G (p.Leu1050Val) n.4286C>G c.4045C>G (p.Leu1349Val) c.3121C>G (p.Leu1041Val) n.4268C>G | |
18 | g.45910540G= | CA2300590846 | EPG5 | n.2370C= c.4186C= (p.Leu1396=) c.3926C= (n.3926C=) n.965C= c.811C= (p.Leu271=) n.4221C= c.4213C= (p.Leu1405=) c.4072C= (p.Leu1358=) c.3148C= (p.Leu1050=) n.4286C= c.4045C= (p.Leu1349=) c.3121C= (p.Leu1041=) n.4268C= | |
18 | g.45910540G>T | CA402339773 | EPG5 | n.2370C>A c.4186C>A (p.Leu1396Met) c.3926C>A (n.3926C>A) n.965C>A c.811C>A (p.Leu271Met) n.4221C>A c.4213C>A (p.Leu1405Met) c.4072C>A (p.Leu1358Met) c.3148C>A (p.Leu1050Met) n.4286C>A c.4045C>A (p.Leu1349Met) c.3121C>A (p.Leu1041Met) n.4268C>A | |
18 | g.45910541T>A | CA402339775 | EPG5 | n.2369A>T c.4185A>T (p.Glu1395Asp) c.3925A>T (n.3925A>T) n.964A>T c.810A>T (p.Glu270Asp) n.4220A>T c.4212A>T (p.Glu1404Asp) c.4071A>T (p.Glu1357Asp) c.3147A>T (p.Glu1049Asp) n.4285A>T c.4044A>T (p.Glu1348Asp) c.3120A>T (p.Glu1040Asp) n.4267A>T | |
18 | g.45910541T>C | CA503793651 | EPG5 | n.2369A>G c.4185A>G (p.Glu1395=) c.3925A>G (n.3925A>G) n.964A>G c.810A>G (p.Glu270=) n.4220A>G c.4212A>G (p.Glu1404=) c.4071A>G (p.Glu1357=) c.3147A>G (p.Glu1049=) n.4285A>G c.4044A>G (p.Glu1348=) c.3120A>G (p.Glu1040=) n.4267A>G | |
18 | g.45910541T>G | CA402339776 | EPG5 | n.2369A>C c.4185A>C (p.Glu1395Asp) c.3925A>C (n.3925A>C) n.964A>C c.810A>C (p.Glu270Asp) n.4220A>C c.4212A>C (p.Glu1404Asp) c.4071A>C (p.Glu1357Asp) c.3147A>C (p.Glu1049Asp) n.4285A>C c.4044A>C (p.Glu1348Asp) c.3120A>C (p.Glu1040Asp) n.4267A>C | gnomAD v4 |
18 | g.45910542T>A | CA402339779 | EPG5 | n.2368A>T c.4184A>T (p.Glu1395Val) c.3924A>T (n.3924A>T) n.963A>T c.809A>T (p.Glu270Val) n.4219A>T c.4211A>T (p.Glu1404Val) c.4070A>T (p.Glu1357Val) c.3146A>T (p.Glu1049Val) n.4284A>T c.4043A>T (p.Glu1348Val) c.3119A>T (p.Glu1040Val) n.4266A>T | |
18 | g.45910542T>C | CA402339780 | EPG5 | n.2368A>G c.4184A>G (p.Glu1395Gly) c.3924A>G (n.3924A>G) n.963A>G c.809A>G (p.Glu270Gly) n.4219A>G c.4211A>G (p.Glu1404Gly) c.4070A>G (p.Glu1357Gly) c.3146A>G (p.Glu1049Gly) n.4284A>G c.4043A>G (p.Glu1348Gly) c.3119A>G (p.Glu1040Gly) n.4266A>G | |
18 | g.45910542T>G | CA402339781 | EPG5 | n.2368A>C c.4184A>C (p.Glu1395Ala) c.3924A>C (n.3924A>C) n.963A>C c.809A>C (p.Glu270Ala) n.4219A>C c.4211A>C (p.Glu1404Ala) c.4070A>C (p.Glu1357Ala) c.3146A>C (p.Glu1049Ala) n.4284A>C c.4043A>C (p.Glu1348Ala) c.3119A>C (p.Glu1040Ala) n.4266A>C | |
18 | g.45910543C>A | CA402339783 | EPG5 | n.2367G>T c.4183G>T (p.Glu1395Ter) c.3923G>T (n.3923G>T) n.962G>T c.808G>T (p.Glu270Ter) n.4218G>T c.4210G>T (p.Glu1404Ter) c.4069G>T (p.Glu1357Ter) c.3145G>T (p.Glu1049Ter) n.4283G>T c.4042G>T (p.Glu1348Ter) c.3118G>T (p.Glu1040Ter) n.4265G>T | |
18 | g.45910543C>G | CA402339785 | EPG5 | n.2367G>C c.4183G>C (p.Glu1395Gln) c.3923G>C (n.3923G>C) n.962G>C c.808G>C (p.Glu270Gln) n.4218G>C c.4210G>C (p.Glu1404Gln) c.4069G>C (p.Glu1357Gln) c.3145G>C (p.Glu1049Gln) n.4283G>C c.4042G>C (p.Glu1348Gln) c.3118G>C (p.Glu1040Gln) n.4265G>C | |
18 | g.45910543C>T | CA402339786 | EPG5 | n.2367G>A c.4183G>A (p.Glu1395Lys) c.3923G>A (n.3923G>A) n.962G>A c.808G>A (p.Glu270Lys) n.4218G>A c.4210G>A (p.Glu1404Lys) c.4069G>A (p.Glu1357Lys) c.3145G>A (p.Glu1049Lys) n.4283G>A c.4042G>A (p.Glu1348Lys) c.3118G>A (p.Glu1040Lys) n.4265G>A | |
18 | g.45910544T>A | CA503793652 | EPG5 | n.2366A>T c.4182A>T (p.Pro1394=) c.3922A>T (n.3922A>T) n.961A>T c.807A>T (p.Pro269=) n.4217A>T c.4209A>T (p.Pro1403=) c.4068A>T (p.Pro1356=) c.3144A>T (p.Pro1048=) n.4282A>T c.4041A>T (p.Pro1347=) c.3117A>T (p.Pro1039=) n.4264A>T | |
18 | g.45910544T>C | CA503793653 | EPG5 | n.2366A>G c.4182A>G (p.Pro1394=) c.3922A>G (n.3922A>G) n.961A>G c.807A>G (p.Pro269=) n.4217A>G c.4209A>G (p.Pro1403=) c.4068A>G (p.Pro1356=) c.3144A>G (p.Pro1048=) n.4282A>G c.4041A>G (p.Pro1347=) c.3117A>G (p.Pro1039=) n.4264A>G | |
18 | g.45910544T>G | CA503793654 | EPG5 | n.2366A>C c.4182A>C (p.Pro1394=) c.3922A>C (n.3922A>C) n.961A>C c.807A>C (p.Pro269=) n.4217A>C c.4209A>C (p.Pro1403=) c.4068A>C (p.Pro1356=) c.3144A>C (p.Pro1048=) n.4282A>C c.4041A>C (p.Pro1347=) c.3117A>C (p.Pro1039=) n.4264A>C | |
18 | g.45910545G>A | CA402339789 | EPG5 | n.2365C>T c.4181C>T (p.Pro1394Leu) c.3921C>T (n.3921C>T) n.960C>T c.806C>T (p.Pro269Leu) n.4216C>T c.4208C>T (p.Pro1403Leu) c.4067C>T (p.Pro1356Leu) c.3143C>T (p.Pro1048Leu) n.4281C>T c.4040C>T (p.Pro1347Leu) c.3116C>T (p.Pro1039Leu) n.4263C>T | |
18 | g.45910545G>C | CA402339790 | EPG5 | n.2365C>G c.4181C>G (p.Pro1394Arg) c.3921C>G (n.3921C>G) n.960C>G c.806C>G (p.Pro269Arg) n.4216C>G c.4208C>G (p.Pro1403Arg) c.4067C>G (p.Pro1356Arg) c.3143C>G (p.Pro1048Arg) n.4281C>G c.4040C>G (p.Pro1347Arg) c.3116C>G (p.Pro1039Arg) n.4263C>G | |
18 | g.45910545G>T | CA402339792 | EPG5 | n.2365C>A c.4181C>A (p.Pro1394Gln) c.3921C>A (n.3921C>A) n.960C>A c.806C>A (p.Pro269Gln) n.4216C>A c.4208C>A (p.Pro1403Gln) c.4067C>A (p.Pro1356Gln) c.3143C>A (p.Pro1048Gln) n.4281C>A c.4040C>A (p.Pro1347Gln) c.3116C>A (p.Pro1039Gln) n.4263C>A | |
18 | g.45910546G>A | CA402339796 | EPG5 | n.2364C>T c.4180C>T (p.Pro1394Ser) c.3920C>T (n.3920C>T) n.959C>T c.805C>T (p.Pro269Ser) n.4215C>T c.4207C>T (p.Pro1403Ser) c.4066C>T (p.Pro1356Ser) c.3142C>T (p.Pro1048Ser) n.4280C>T c.4039C>T (p.Pro1347Ser) c.3115C>T (p.Pro1039Ser) n.4262C>T | |
18 | g.45910546G>C | CA402339799 | EPG5 | n.2364C>G c.4180C>G (p.Pro1394Ala) c.3920C>G (n.3920C>G) n.959C>G c.805C>G (p.Pro269Ala) n.4215C>G c.4207C>G (p.Pro1403Ala) c.4066C>G (p.Pro1356Ala) c.3142C>G (p.Pro1048Ala) n.4280C>G c.4039C>G (p.Pro1347Ala) c.3115C>G (p.Pro1039Ala) n.4262C>G | |
18 | g.45910546G>T | CA402339795 | EPG5 | n.2364C>A c.4180C>A (p.Pro1394Thr) c.3920C>A (n.3920C>A) n.959C>A c.805C>A (p.Pro269Thr) n.4215C>A c.4207C>A (p.Pro1403Thr) c.4066C>A (p.Pro1356Thr) c.3142C>A (p.Pro1048Thr) n.4280C>A c.4039C>A (p.Pro1347Thr) c.3115C>A (p.Pro1039Thr) n.4262C>A | |
18 | g.45910547T>A | CA503793655 | EPG5 | n.2363A>T c.4179A>T (p.Ser1393=) c.3919A>T (n.3919A>T) n.958A>T c.804A>T (p.Ser268=) n.4214A>T c.4206A>T (p.Ser1402=) c.4065A>T (p.Ser1355=) c.3141A>T (p.Ser1047=) n.4279A>T c.4038A>T (p.Ser1346=) c.3114A>T (p.Ser1038=) n.4261A>T | |
18 | g.45910547T>C | CA503793656 | EPG5 | n.2363A>G c.4179A>G (p.Ser1393=) c.3919A>G (n.3919A>G) n.958A>G c.804A>G (p.Ser268=) n.4214A>G c.4206A>G (p.Ser1402=) c.4065A>G (p.Ser1355=) c.3141A>G (p.Ser1047=) n.4279A>G c.4038A>G (p.Ser1346=) c.3114A>G (p.Ser1038=) n.4261A>G | gnomAD v4 |
18 | g.45910547T>G | CA503793657 | EPG5 | n.2363A>C c.4179A>C (p.Ser1393=) c.3919A>C (n.3919A>C) n.958A>C c.804A>C (p.Ser268=) n.4214A>C c.4206A>C (p.Ser1402=) c.4065A>C (p.Ser1355=) c.3141A>C (p.Ser1047=) n.4279A>C c.4038A>C (p.Ser1346=) c.3114A>C (p.Ser1038=) n.4261A>C | |
18 | g.45910548G>A | CA402339801 | EPG5 | n.2362C>T c.4178C>T (p.Ser1393Leu) c.3918C>T (n.3918C>T) n.957C>T c.803C>T (p.Ser268Leu) n.4213C>T c.4205C>T (p.Ser1402Leu) c.4064C>T (p.Ser1355Leu) c.3140C>T (p.Ser1047Leu) n.4278C>T c.4037C>T (p.Ser1346Leu) c.3113C>T (p.Ser1038Leu) n.4260C>T | |
18 | g.45910548G>C | CA402339803 | EPG5 | n.2362C>G c.4178C>G (p.Ser1393Ter) c.3918C>G (n.3918C>G) n.957C>G c.803C>G (p.Ser268Ter) n.4213C>G c.4205C>G (p.Ser1402Ter) c.4064C>G (p.Ser1355Ter) c.3140C>G (p.Ser1047Ter) n.4278C>G c.4037C>G (p.Ser1346Ter) c.3113C>G (p.Ser1038Ter) n.4260C>G | gnomAD v4 |
18 | g.45910548G>T | CA402339805 | EPG5 | n.2362C>A c.4178C>A (p.Ser1393Ter) c.3918C>A (n.3918C>A) n.957C>A c.803C>A (p.Ser268Ter) n.4213C>A c.4205C>A (p.Ser1402Ter) c.4064C>A (p.Ser1355Ter) c.3140C>A (p.Ser1047Ter) n.4278C>A c.4037C>A (p.Ser1346Ter) c.3113C>A (p.Ser1038Ter) n.4260C>A | |
18 | g.45910549A>C | CA402339807 | EPG5 | n.2361T>G c.4177T>G (p.Ser1393Ala) c.3917T>G (n.3917T>G) n.956T>G c.802T>G (p.Ser268Ala) n.4212T>G c.4204T>G (p.Ser1402Ala) c.4063T>G (p.Ser1355Ala) c.3139T>G (p.Ser1047Ala) n.4277T>G c.4036T>G (p.Ser1346Ala) c.3112T>G (p.Ser1038Ala) n.4259T>G | |
18 | g.45910549A>G | CA402339809 | EPG5 | n.2361T>C c.4177T>C (p.Ser1393Pro) c.3917T>C (n.3917T>C) n.956T>C c.802T>C (p.Ser268Pro) n.4212T>C c.4204T>C (p.Ser1402Pro) c.4063T>C (p.Ser1355Pro) c.3139T>C (p.Ser1047Pro) n.4277T>C c.4036T>C (p.Ser1346Pro) c.3112T>C (p.Ser1038Pro) n.4259T>C | |
18 | g.45910549A>T | CA402339811 | EPG5 | n.2361T>A c.4177T>A (p.Ser1393Thr) c.3917T>A (n.3917T>A) n.956T>A c.802T>A (p.Ser268Thr) n.4212T>A c.4204T>A (p.Ser1402Thr) c.4063T>A (p.Ser1355Thr) c.3139T>A (p.Ser1047Thr) n.4277T>A c.4036T>A (p.Ser1346Thr) c.3112T>A (p.Ser1038Thr) n.4259T>A | gnomAD v4 |
18 | g.45910550A= | CA2300590847 | EPG5 | n.2360T= c.4176T= (p.Thr1392=) c.3916T= (n.3916T=) n.955T= c.801T= (p.Thr267=) n.4211T= c.4203T= (p.Thr1401=) c.4062T= (p.Thr1354=) c.3138T= (p.Thr1046=) n.4276T= c.4035T= (p.Thr1345=) c.3111T= (p.Thr1037=) n.4258T= | |
18 | g.45910550A>C | CA503793658 | EPG5 | n.2360T>G c.4176T>G (p.Thr1392=) c.3916T>G (n.3916T>G) n.955T>G c.801T>G (p.Thr267=) n.4211T>G c.4203T>G (p.Thr1401=) c.4062T>G (p.Thr1354=) c.3138T>G (p.Thr1046=) n.4276T>G c.4035T>G (p.Thr1345=) c.3111T>G (p.Thr1037=) n.4258T>G | |
18 | g.45910550A>G | CA503793659 | EPG5 | n.2360T>C c.4176T>C (p.Thr1392=) c.3916T>C (n.3916T>C) n.955T>C c.801T>C (p.Thr267=) n.4211T>C c.4203T>C (p.Thr1401=) c.4062T>C (p.Thr1354=) c.3138T>C (p.Thr1046=) n.4276T>C c.4035T>C (p.Thr1345=) c.3111T>C (p.Thr1037=) n.4258T>C | dbSNP gnomAD v3 gnomAD v4 |
18 | g.45910550A>T | CA503793660 | EPG5 | n.2360T>A c.4176T>A (p.Thr1392=) c.3916T>A (n.3916T>A) n.955T>A c.801T>A (p.Thr267=) n.4211T>A c.4203T>A (p.Thr1401=) c.4062T>A (p.Thr1354=) c.3138T>A (p.Thr1046=) n.4276T>A c.4035T>A (p.Thr1345=) c.3111T>A (p.Thr1037=) n.4258T>A | |
18 | g.45910551G>A | CA402339813 | EPG5 | n.2359C>T c.4175C>T (p.Thr1392Ile) c.3915C>T (n.3915C>T) n.954C>T c.800C>T (p.Thr267Ile) n.4210C>T c.4202C>T (p.Thr1401Ile) c.4061C>T (p.Thr1354Ile) c.3137C>T (p.Thr1046Ile) n.4275C>T c.4034C>T (p.Thr1345Ile) c.3110C>T (p.Thr1037Ile) n.4257C>T | gnomAD v4 |
18 | g.45910551G>C | CA402339815 | EPG5 | n.2359C>G c.4175C>G (p.Thr1392Ser) c.3915C>G (n.3915C>G) n.954C>G c.800C>G (p.Thr267Ser) n.4210C>G c.4202C>G (p.Thr1401Ser) c.4061C>G (p.Thr1354Ser) c.3137C>G (p.Thr1046Ser) n.4275C>G c.4034C>G (p.Thr1345Ser) c.3110C>G (p.Thr1037Ser) n.4257C>G | |
18 | g.45910551G>T | CA402339817 | EPG5 | n.2359C>A c.4175C>A (p.Thr1392Asn) c.3915C>A (n.3915C>A) n.954C>A c.800C>A (p.Thr267Asn) n.4210C>A c.4202C>A (p.Thr1401Asn) c.4061C>A (p.Thr1354Asn) c.3137C>A (p.Thr1046Asn) n.4275C>A c.4034C>A (p.Thr1345Asn) c.3110C>A (p.Thr1037Asn) n.4257C>A | |
18 | g.45910552T>A | CA402339820 | EPG5 | n.2358A>T c.4174A>T (p.Thr1392Ser) c.3914A>T (n.3914A>T) n.953A>T c.799A>T (p.Thr267Ser) n.4209A>T c.4201A>T (p.Thr1401Ser) c.4060A>T (p.Thr1354Ser) c.3136A>T (p.Thr1046Ser) n.4274A>T c.4033A>T (p.Thr1345Ser) c.3109A>T (p.Thr1037Ser) n.4256A>T | |
18 | g.45910552T>C | CA402339822 | EPG5 | n.2358A>G c.4174A>G (p.Thr1392Ala) c.3914A>G (n.3914A>G) n.953A>G c.799A>G (p.Thr267Ala) n.4209A>G c.4201A>G (p.Thr1401Ala) c.4060A>G (p.Thr1354Ala) c.3136A>G (p.Thr1046Ala) n.4274A>G c.4033A>G (p.Thr1345Ala) c.3109A>G (p.Thr1037Ala) n.4256A>G | dbSNP |
18 | g.45910552T>G | CA402339823 | EPG5 | n.2358A>C c.4174A>C (p.Thr1392Pro) c.3914A>C (n.3914A>C) n.953A>C c.799A>C (p.Thr267Pro) n.4209A>C c.4201A>C (p.Thr1401Pro) c.4060A>C (p.Thr1354Pro) c.3136A>C (p.Thr1046Pro) n.4274A>C c.4033A>C (p.Thr1345Pro) c.3109A>C (p.Thr1037Pro) n.4256A>C | |
18 | g.45910552T= | CA2300590848 | EPG5 | n.2358A= c.4174A= (p.Thr1392=) c.3914A= (n.3914A=) n.953A= c.799A= (p.Thr267=) n.4209A= c.4201A= (p.Thr1401=) c.4060A= (p.Thr1354=) c.3136A= (p.Thr1046=) n.4274A= c.4033A= (p.Thr1345=) c.3109A= (p.Thr1037=) n.4256A= | |
18 | g.45910553C>A | CA503793663 | EPG5 | n.2357G>T c.4173G>T (p.Leu1391=) c.3913G>T (n.3913G>T) n.952G>T c.798G>T (p.Leu266=) n.4208G>T c.4200G>T (p.Leu1400=) c.4059G>T (p.Leu1353=) c.3135G>T (p.Leu1045=) n.4273G>T c.4032G>T (p.Leu1344=) c.3108G>T (p.Leu1036=) n.4255G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.45910553C= | CA2300590849 | EPG5 | n.2357G= c.4173G= (p.Leu1391=) c.3913G= (n.3913G=) n.952G= c.798G= (p.Leu266=) n.4208G= c.4200G= (p.Leu1400=) c.4059G= (p.Leu1353=) c.3135G= (p.Leu1045=) n.4273G= c.4032G= (p.Leu1344=) c.3108G= (p.Leu1036=) n.4255G= | |
18 | g.45910553C>G | CA503793662 | EPG5 | n.2357G>C c.4173G>C (p.Leu1391=) c.3913G>C (n.3913G>C) n.952G>C c.798G>C (p.Leu266=) n.4208G>C c.4200G>C (p.Leu1400=) c.4059G>C (p.Leu1353=) c.3135G>C (p.Leu1045=) n.4273G>C c.4032G>C (p.Leu1344=) c.3108G>C (p.Leu1036=) n.4255G>C | |
18 | g.45910553C>T | CA503793661 | EPG5 | n.2357G>A c.4173G>A (p.Leu1391=) c.3913G>A (n.3913G>A) n.952G>A c.798G>A (p.Leu266=) n.4208G>A c.4200G>A (p.Leu1400=) c.4059G>A (p.Leu1353=) c.3135G>A (p.Leu1045=) n.4273G>A c.4032G>A (p.Leu1344=) c.3108G>A (p.Leu1036=) n.4255G>A | gnomAD v4 |
18 | g.45910554A= | CA2300590850 | EPG5 | n.2356T= c.4172T= (p.Leu1391=) c.3912T= (n.3912T=) n.951T= c.797T= (p.Leu266=) n.4207T= c.4199T= (p.Leu1400=) c.4058T= (p.Leu1353=) c.3134T= (p.Leu1045=) n.4272T= c.4031T= (p.Leu1344=) c.3107T= (p.Leu1036=) n.4254T= | |
18 | g.45910554A>C | CA402339826 | EPG5 | n.2356T>G c.4172T>G (p.Leu1391Arg) c.3912T>G (n.3912T>G) n.951T>G c.797T>G (p.Leu266Arg) n.4207T>G c.4199T>G (p.Leu1400Arg) c.4058T>G (p.Leu1353Arg) c.3134T>G (p.Leu1045Arg) n.4272T>G c.4031T>G (p.Leu1344Arg) c.3107T>G (p.Leu1036Arg) n.4254T>G | |
18 | g.45910554A>G | CA402339828 | EPG5 | n.2356T>C c.4172T>C (p.Leu1391Pro) c.3912T>C (n.3912T>C) n.951T>C c.797T>C (p.Leu266Pro) n.4207T>C c.4199T>C (p.Leu1400Pro) c.4058T>C (p.Leu1353Pro) c.3134T>C (p.Leu1045Pro) n.4272T>C c.4031T>C (p.Leu1344Pro) c.3107T>C (p.Leu1036Pro) n.4254T>C | |
18 | g.45910554A>T | CA402339824 | EPG5 | n.2356T>A c.4172T>A (p.Leu1391Gln) c.3912T>A (n.3912T>A) n.951T>A c.797T>A (p.Leu266Gln) n.4207T>A c.4199T>A (p.Leu1400Gln) c.4058T>A (p.Leu1353Gln) c.3134T>A (p.Leu1045Gln) n.4272T>A c.4031T>A (p.Leu1344Gln) c.3107T>A (p.Leu1036Gln) n.4254T>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.45910555G>A | CA503793664 | EPG5 | n.2355C>T c.4171C>T (p.Leu1391=) c.3911C>T (n.3911C>T) n.950C>T c.796C>T (p.Leu266=) n.4206C>T c.4198C>T (p.Leu1400=) c.4057C>T (p.Leu1353=) c.3133C>T (p.Leu1045=) n.4271C>T c.4030C>T (p.Leu1344=) c.3106C>T (p.Leu1036=) n.4253C>T | |
18 | g.45910555G>C | CA402339830 | EPG5 | n.2355C>G c.4171C>G (p.Leu1391Val) c.3911C>G (n.3911C>G) n.950C>G c.796C>G (p.Leu266Val) n.4206C>G c.4198C>G (p.Leu1400Val) c.4057C>G (p.Leu1353Val) c.3133C>G (p.Leu1045Val) n.4271C>G c.4030C>G (p.Leu1344Val) c.3106C>G (p.Leu1036Val) n.4253C>G | |
18 | g.45910555G>T | CA402339832 | EPG5 | n.2355C>A c.4171C>A (p.Leu1391Met) c.3911C>A (n.3911C>A) n.950C>A c.796C>A (p.Leu266Met) n.4206C>A c.4198C>A (p.Leu1400Met) c.4057C>A (p.Leu1353Met) c.3133C>A (p.Leu1045Met) n.4271C>A c.4030C>A (p.Leu1344Met) c.3106C>A (p.Leu1036Met) n.4253C>A | |
18 | g.45910556G>A | CA503793665 | EPG5 | n.2354C>T c.4170C>T (p.Tyr1390=) c.3910C>T (n.3910C>T) n.949C>T c.795C>T (p.Tyr265=) n.4205C>T c.4197C>T (p.Tyr1399=) c.4056C>T (p.Tyr1352=) c.3132C>T (p.Tyr1044=) n.4270C>T c.4029C>T (p.Tyr1343=) c.3105C>T (p.Tyr1035=) n.4252C>T | |
18 | g.45910556G>C | CA402339834 | EPG5 | n.2354C>G c.4170C>G (p.Tyr1390Ter) c.3910C>G (n.3910C>G) n.949C>G c.795C>G (p.Tyr265Ter) n.4205C>G c.4197C>G (p.Tyr1399Ter) c.4056C>G (p.Tyr1352Ter) c.3132C>G (p.Tyr1044Ter) n.4270C>G c.4029C>G (p.Tyr1343Ter) c.3105C>G (p.Tyr1035Ter) n.4252C>G | gnomAD v4 |
18 | g.45910556G>T | CA402339836 | EPG5 | n.2354C>A c.4170C>A (p.Tyr1390Ter) c.3910C>A (n.3910C>A) n.949C>A c.795C>A (p.Tyr265Ter) n.4205C>A c.4197C>A (p.Tyr1399Ter) c.4056C>A (p.Tyr1352Ter) c.3132C>A (p.Tyr1044Ter) n.4270C>A c.4029C>A (p.Tyr1343Ter) c.3105C>A (p.Tyr1035Ter) n.4252C>A | |
18 | g.45910557T>A | CA402339838 | EPG5 | n.2353A>T c.4169A>T (p.Tyr1390Phe) c.3909A>T (n.3909A>T) n.948A>T c.794A>T (p.Tyr265Phe) n.4204A>T c.4196A>T (p.Tyr1399Phe) c.4055A>T (p.Tyr1352Phe) c.3131A>T (p.Tyr1044Phe) n.4269A>T c.4028A>T (p.Tyr1343Phe) c.3104A>T (p.Tyr1035Phe) n.4251A>T | |
18 | g.45910557T>C | CA358038 | EPG5 | n.2353A>G c.4169A>G (p.Tyr1390Cys) c.3909A>G (n.3909A>G) n.948A>G c.794A>G (p.Tyr265Cys) n.4204A>G c.4196A>G (p.Tyr1399Cys) c.4055A>G (p.Tyr1352Cys) c.3131A>G (p.Tyr1044Cys) n.4269A>G c.4028A>G (p.Tyr1343Cys) c.3104A>G (p.Tyr1035Cys) n.4251A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.45910557T>G | CA8948965 | EPG5 | n.2353A>C c.4169A>C (p.Tyr1390Ser) c.3909A>C (n.3909A>C) n.948A>C c.794A>C (p.Tyr265Ser) n.4204A>C c.4196A>C (p.Tyr1399Ser) c.4055A>C (p.Tyr1352Ser) c.3131A>C (p.Tyr1044Ser) n.4269A>C c.4028A>C (p.Tyr1343Ser) c.3104A>C (p.Tyr1035Ser) n.4251A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.45910557T= | CA2300590851 | EPG5 | n.2353A= c.4169A= (p.Tyr1390=) c.3909A= (n.3909A=) n.948A= c.794A= (p.Tyr265=) n.4204A= c.4196A= (p.Tyr1399=) c.4055A= (p.Tyr1352=) c.3131A= (p.Tyr1044=) n.4269A= c.4028A= (p.Tyr1343=) c.3104A= (p.Tyr1035=) n.4251A= | |
18 | g.45910558A>C | CA402339848 | EPG5 | n.2352T>G c.4168T>G (p.Tyr1390Asp) c.3908T>G (n.3908T>G) n.947T>G c.793T>G (p.Tyr265Asp) n.4203T>G c.4195T>G (p.Tyr1399Asp) c.4054T>G (p.Tyr1352Asp) c.3130T>G (p.Tyr1044Asp) n.4268T>G c.4027T>G (p.Tyr1343Asp) c.3103T>G (p.Tyr1035Asp) n.4250T>G | |
18 | g.45910558A>G | CA402339846 | EPG5 | n.2352T>C c.4168T>C (p.Tyr1390His) c.3908T>C (n.3908T>C) n.947T>C c.793T>C (p.Tyr265His) n.4203T>C c.4195T>C (p.Tyr1399His) c.4054T>C (p.Tyr1352His) c.3130T>C (p.Tyr1044His) n.4268T>C c.4027T>C (p.Tyr1343His) c.3103T>C (p.Tyr1035His) n.4250T>C | |
18 | g.45910558A>T | CA402339845 | EPG5 | n.2352T>A c.4168T>A (p.Tyr1390Asn) c.3908T>A (n.3908T>A) n.947T>A c.793T>A (p.Tyr265Asn) n.4203T>A c.4195T>A (p.Tyr1399Asn) c.4054T>A (p.Tyr1352Asn) c.3130T>A (p.Tyr1044Asn) n.4268T>A c.4027T>A (p.Tyr1343Asn) c.3103T>A (p.Tyr1035Asn) n.4250T>A | |
18 | g.45910558_45910560dup | CA8948964 | EPG5 | n.2350_2352dup c.4166_4168dup (p.Gly1389_Tyr1390insCys) c.3906_3908dup (n.3906_3908dup) n.945_947dup c.791_793dup (p.Gly264_Tyr265insCys) n.4201_4203dup c.4193_4195dup (p.Gly1398_Tyr1399insCys) c.4052_4054dup (p.Gly1351_Tyr1352insCys) c.3128_3130dup (p.Gly1043_Tyr1044insCys) n.4266_4268dup c.4025_4027dup (p.Gly1342_Tyr1343insCys) c.3101_3103dup (p.Gly1034_Tyr1035insCys) n.4248_4250dup | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.45910559A>C | CA503793666 | EPG5 | n.2351T>G c.4167T>G (p.Gly1389=) c.3907T>G (n.3907T>G) n.946T>G c.792T>G (p.Gly264=) n.4202T>G c.4194T>G (p.Gly1398=) c.4053T>G (p.Gly1351=) c.3129T>G (p.Gly1043=) n.4267T>G c.4026T>G (p.Gly1342=) c.3102T>G (p.Gly1034=) n.4249T>G | |
18 | g.45910559A>G | CA503793667 | EPG5 | n.2351T>C c.4167T>C (p.Gly1389=) c.3907T>C (n.3907T>C) n.946T>C c.792T>C (p.Gly264=) n.4202T>C c.4194T>C (p.Gly1398=) c.4053T>C (p.Gly1351=) c.3129T>C (p.Gly1043=) n.4267T>C c.4026T>C (p.Gly1342=) c.3102T>C (p.Gly1034=) n.4249T>C | |
18 | g.45910559A>T | CA503793668 | EPG5 | n.2351T>A c.4167T>A (p.Gly1389=) c.3907T>A (n.3907T>A) n.946T>A c.792T>A (p.Gly264=) n.4202T>A c.4194T>A (p.Gly1398=) c.4053T>A (p.Gly1351=) c.3129T>A (p.Gly1043=) n.4267T>A c.4026T>A (p.Gly1342=) c.3102T>A (p.Gly1034=) n.4249T>A | |
18 | g.45910560C>A | CA8948966 | EPG5 | n.2350G>T c.4166G>T (p.Gly1389Val) c.3906G>T (n.3906G>T) n.945G>T c.791G>T (p.Gly264Val) n.4201G>T c.4193G>T (p.Gly1398Val) c.4052G>T (p.Gly1351Val) c.3128G>T (p.Gly1043Val) n.4266G>T c.4025G>T (p.Gly1342Val) c.3101G>T (p.Gly1034Val) n.4248G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.45910560C= | CA2300590852 | EPG5 | n.2350G= c.4166G= (p.Gly1389=) c.3906G= (n.3906G=) n.945G= c.791G= (p.Gly264=) n.4201G= c.4193G= (p.Gly1398=) c.4052G= (p.Gly1351=) c.3128G= (p.Gly1043=) n.4266G= c.4025G= (p.Gly1342=) c.3101G= (p.Gly1034=) n.4248G= | |
18 | g.45910560C>G | CA8948967 | EPG5 | n.2350G>C c.4166G>C (p.Gly1389Ala) c.3906G>C (n.3906G>C) n.945G>C c.791G>C (p.Gly264Ala) n.4201G>C c.4193G>C (p.Gly1398Ala) c.4052G>C (p.Gly1351Ala) c.3128G>C (p.Gly1043Ala) n.4266G>C c.4025G>C (p.Gly1342Ala) c.3101G>C (p.Gly1034Ala) n.4248G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.45910560C>T | CA402339852 | EPG5 | n.2350G>A c.4166G>A (p.Gly1389Asp) c.3906G>A (n.3906G>A) n.945G>A c.791G>A (p.Gly264Asp) n.4201G>A c.4193G>A (p.Gly1398Asp) c.4052G>A (p.Gly1351Asp) c.3128G>A (p.Gly1043Asp) n.4266G>A c.4025G>A (p.Gly1342Asp) c.3101G>A (p.Gly1034Asp) n.4248G>A | |
18 | g.45910561C>A | CA8948968 | EPG5 | n.2349G>T c.4165G>T (p.Gly1389Cys) c.3905G>T (n.3905G>T) n.944G>T c.790G>T (p.Gly264Cys) n.4200G>T c.4192G>T (p.Gly1398Cys) c.4051G>T (p.Gly1351Cys) c.3127G>T (p.Gly1043Cys) n.4265G>T c.4024G>T (p.Gly1342Cys) c.3100G>T (p.Gly1034Cys) n.4247G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.45910561C= | CA2300590854 | EPG5 | n.2349G= c.4165G= (p.Gly1389=) c.3905G= (n.3905G=) n.944G= c.790G= (p.Gly264=) n.4200G= c.4192G= (p.Gly1398=) c.4051G= (p.Gly1351=) c.3127G= (p.Gly1043=) n.4265G= c.4024G= (p.Gly1342=) c.3100G= (p.Gly1034=) n.4247G= | |
18 | g.45910561C>G | CA402339857 | EPG5 | n.2349G>C c.4165G>C (p.Gly1389Arg) c.3905G>C (n.3905G>C) n.944G>C c.790G>C (p.Gly264Arg) n.4200G>C c.4192G>C (p.Gly1398Arg) c.4051G>C (p.Gly1351Arg) c.3127G>C (p.Gly1043Arg) n.4265G>C c.4024G>C (p.Gly1342Arg) c.3100G>C (p.Gly1034Arg) n.4247G>C | |
18 | g.45910561C>T | CA402339855 | EPG5 | n.2349G>A c.4165G>A (p.Gly1389Ser) c.3905G>A (n.3905G>A) n.944G>A c.790G>A (p.Gly264Ser) n.4200G>A c.4192G>A (p.Gly1398Ser) c.4051G>A (p.Gly1351Ser) c.3127G>A (p.Gly1043Ser) n.4265G>A c.4024G>A (p.Gly1342Ser) c.3100G>A (p.Gly1034Ser) n.4247G>A | |
18 | g.45910561_45910562delinsAT | CA916083647 | EPG5 | n.2348_2349delinsAT c.4164_4165delinsAT (p.Gly1389Cys) c.3904_3905delinsAT (n.3904_3905delinsAT) n.943_944delinsAT c.789_790delinsAT (p.Gly264Cys) n.4199_4200delinsAT c.4191_4192delinsAT (p.Gly1398Cys) c.4050_4051delinsAT (p.Gly1351Cys) c.3126_3127delinsAT (p.Gly1043Cys) n.4264_4265delinsAT c.4023_4024delinsAT (p.Gly1342Cys) c.3099_3100delinsAT (p.Gly1034Cys) n.4246_4247delinsAT | ClinVar dbSNP |
18 | g.45910561_45910562delinsCA | CA2300590853 | EPG5 | n.2348_2349delinsTG c.4164_4165delinsTG (p.Pro1388=) c.3904_3905delinsTG (n.3904_3905delinsTG) n.943_944delinsTG c.789_790delinsTG (p.Pro263=) n.4199_4200delinsTG c.4191_4192delinsTG (p.Pro1397=) c.4050_4051delinsTG (p.Pro1350=) c.3126_3127delinsTG (p.Pro1042=) n.4264_4265delinsTG c.4023_4024delinsTG (p.Pro1341=) c.3099_3100delinsTG (p.Pro1033=) n.4246_4247delinsTG | |
18 | g.45910562A= | CA2300590855 | EPG5 | n.2348T= c.4164T= (p.Pro1388=) c.3904T= (n.3904T=) n.943T= c.789T= (p.Pro263=) n.4199T= c.4191T= (p.Pro1397=) c.4050T= (p.Pro1350=) c.3126T= (p.Pro1042=) n.4264T= c.4023T= (p.Pro1341=) c.3099T= (p.Pro1033=) n.4246T= | |
18 | g.45910562A>C | CA503793669 | EPG5 | n.2348T>G c.4164T>G (p.Pro1388=) c.3904T>G (n.3904T>G) n.943T>G c.789T>G (p.Pro263=) n.4199T>G c.4191T>G (p.Pro1397=) c.4050T>G (p.Pro1350=) c.3126T>G (p.Pro1042=) n.4264T>G c.4023T>G (p.Pro1341=) c.3099T>G (p.Pro1033=) n.4246T>G | |
18 | g.45910562A>G | CA503793670 | EPG5 | n.2348T>C c.4164T>C (p.Pro1388=) c.3904T>C (n.3904T>C) n.943T>C c.789T>C (p.Pro263=) n.4199T>C c.4191T>C (p.Pro1397=) c.4050T>C (p.Pro1350=) c.3126T>C (p.Pro1042=) n.4264T>C c.4023T>C (p.Pro1341=) c.3099T>C (p.Pro1033=) n.4246T>C | |
18 | g.45910562A>T | CA8948969 | EPG5 | n.2348T>A c.4164T>A (p.Pro1388=) c.3904T>A (n.3904T>A) n.943T>A c.789T>A (p.Pro263=) n.4199T>A c.4191T>A (p.Pro1397=) c.4050T>A (p.Pro1350=) c.3126T>A (p.Pro1042=) n.4264T>A c.4023T>A (p.Pro1341=) c.3099T>A (p.Pro1033=) n.4246T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.45910564_45910574dup | CA2641629235 | EPG5 | n.2338_2348dup c.4154_4164dup (p.Gly1389LeufsTer7) c.3894_3904dup (n.3894_3904dup) n.933_943dup c.779_789dup (p.Gly264LeufsTer7) n.4189_4199dup c.4181_4191dup (p.Gly1398LeufsTer7) c.4040_4050dup (p.Gly1351LeufsTer7) c.3116_3126dup (p.Gly1043LeufsTer7) n.4254_4264dup c.4013_4023dup (p.Gly1342LeufsTer7) c.3089_3099dup (p.Gly1034LeufsTer7) n.4236_4246dup | gnomAD v4 |
18 | g.45910563G>A | CA8948970 | EPG5 | n.2347C>T c.4163C>T (p.Pro1388Leu) c.3903C>T (n.3903C>T) n.942C>T c.788C>T (p.Pro263Leu) n.4198C>T c.4190C>T (p.Pro1397Leu) c.4049C>T (p.Pro1350Leu) c.3125C>T (p.Pro1042Leu) n.4263C>T c.4022C>T (p.Pro1341Leu) c.3098C>T (p.Pro1033Leu) n.4245C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.45910563G>C | CA402339861 | EPG5 | n.2347C>G c.4163C>G (p.Pro1388Arg) c.3903C>G (n.3903C>G) n.942C>G c.788C>G (p.Pro263Arg) n.4198C>G c.4190C>G (p.Pro1397Arg) c.4049C>G (p.Pro1350Arg) c.3125C>G (p.Pro1042Arg) n.4263C>G c.4022C>G (p.Pro1341Arg) c.3098C>G (p.Pro1033Arg) n.4245C>G | gnomAD v4 |
18 | g.45910563G= | CA2300590857 | EPG5 | n.2347C= c.4163C= (p.Pro1388=) c.3903C= (n.3903C=) n.942C= c.788C= (p.Pro263=) n.4198C= c.4190C= (p.Pro1397=) c.4049C= (p.Pro1350=) c.3125C= (p.Pro1042=) n.4263C= c.4022C= (p.Pro1341=) c.3098C= (p.Pro1033=) n.4245C= | |
18 | g.45910563G>T | CA402339863 | EPG5 | n.2347C>A c.4163C>A (p.Pro1388His) c.3903C>A (n.3903C>A) n.942C>A c.788C>A (p.Pro263His) n.4198C>A c.4190C>A (p.Pro1397His) c.4049C>A (p.Pro1350His) c.3125C>A (p.Pro1042His) n.4263C>A c.4022C>A (p.Pro1341His) c.3098C>A (p.Pro1033His) n.4245C>A | |
18 | g.45910566dup | CA2300590856 | EPG5 | n.2347dup c.4163dup (p.Gly1389TrpfsTer26) c.3903dup (n.3903dup) n.942dup c.788dup (p.Gly264TrpfsTer26) n.4198dup c.4190dup (p.Gly1398TrpfsTer26) c.4049dup (p.Gly1351TrpfsTer26) c.3125dup (p.Gly1043TrpfsTer26) n.4263dup c.4022dup (p.Gly1342TrpfsTer26) c.3098dup (p.Gly1034TrpfsTer26) n.4245dup | dbSNP |
18 | g.45910564G>A | CA402339866 | EPG5 | n.2346C>T c.4162C>T (p.Pro1388Ser) c.3902C>T (n.3902C>T) n.941C>T c.787C>T (p.Pro263Ser) n.4197C>T c.4189C>T (p.Pro1397Ser) c.4048C>T (p.Pro1350Ser) c.3124C>T (p.Pro1042Ser) n.4262C>T c.4021C>T (p.Pro1341Ser) c.3097C>T (p.Pro1033Ser) n.4244C>T | |
18 | g.45910564G>C | CA402339870 | EPG5 | n.2346C>G c.4162C>G (p.Pro1388Ala) c.3902C>G (n.3902C>G) n.941C>G c.787C>G (p.Pro263Ala) n.4197C>G c.4189C>G (p.Pro1397Ala) c.4048C>G (p.Pro1350Ala) c.3124C>G (p.Pro1042Ala) n.4262C>G c.4021C>G (p.Pro1341Ala) c.3097C>G (p.Pro1033Ala) n.4244C>G | |
18 | g.45910564G>T | CA402339868 | EPG5 | n.2346C>A c.4162C>A (p.Pro1388Thr) c.3902C>A (n.3902C>A) n.941C>A c.787C>A (p.Pro263Thr) n.4197C>A c.4189C>A (p.Pro1397Thr) c.4048C>A (p.Pro1350Thr) c.3124C>A (p.Pro1042Thr) n.4262C>A c.4021C>A (p.Pro1341Thr) c.3097C>A (p.Pro1033Thr) n.4244C>A | |
18 | g.45910565G>A | CA503793671 | EPG5 | n.2345C>T c.4161C>T (p.Thr1387=) c.3901C>T (n.3901C>T) n.940C>T c.786C>T (p.Thr262=) n.4196C>T c.4188C>T (p.Thr1396=) c.4047C>T (p.Thr1349=) c.3123C>T (p.Thr1041=) n.4261C>T c.4020C>T (p.Thr1340=) c.3096C>T (p.Thr1032=) n.4243C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
18 | g.45910565G>C | CA503793672 | EPG5 | n.2345C>G c.4161C>G (p.Thr1387=) c.3901C>G (n.3901C>G) n.940C>G c.786C>G (p.Thr262=) n.4196C>G c.4188C>G (p.Thr1396=) c.4047C>G (p.Thr1349=) c.3123C>G (p.Thr1041=) n.4261C>G c.4020C>G (p.Thr1340=) c.3096C>G (p.Thr1032=) n.4243C>G | ClinVar gnomAD v4 |
18 | g.45910565G= | CA2300590858 | EPG5 | n.2345C= c.4161C= (p.Thr1387=) c.3901C= (n.3901C=) n.940C= c.786C= (p.Thr262=) n.4196C= c.4188C= (p.Thr1396=) c.4047C= (p.Thr1349=) c.3123C= (p.Thr1041=) n.4261C= c.4020C= (p.Thr1340=) c.3096C= (p.Thr1032=) n.4243C= | |
18 | g.45910565G>T | CA8948971 | EPG5 | n.2345C>A c.4161C>A (p.Thr1387=) c.3901C>A (n.3901C>A) n.940C>A c.786C>A (p.Thr262=) n.4196C>A c.4188C>A (p.Thr1396=) c.4047C>A (p.Thr1349=) c.3123C>A (p.Thr1041=) n.4261C>A c.4020C>A (p.Thr1340=) c.3096C>A (p.Thr1032=) n.4243C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.45910566G>A | CA8948972 | EPG5 | n.2344C>T c.4160C>T (p.Thr1387Ile) c.3900C>T (n.3900C>T) n.939C>T c.785C>T (p.Thr262Ile) n.4195C>T c.4187C>T (p.Thr1396Ile) c.4046C>T (p.Thr1349Ile) c.3122C>T (p.Thr1041Ile) n.4260C>T c.4019C>T (p.Thr1340Ile) c.3095C>T (p.Thr1032Ile) n.4242C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.45910566G>C | CA402339874 | EPG5 | n.2344C>G c.4160C>G (p.Thr1387Ser) c.3900C>G (n.3900C>G) n.939C>G c.785C>G (p.Thr262Ser) n.4195C>G c.4187C>G (p.Thr1396Ser) c.4046C>G (p.Thr1349Ser) c.3122C>G (p.Thr1041Ser) n.4260C>G c.4019C>G (p.Thr1340Ser) c.3095C>G (p.Thr1032Ser) n.4242C>G | |
18 | g.45910566G= | CA2300590859 | EPG5 | n.2344C= c.4160C= (p.Thr1387=) c.3900C= (n.3900C=) n.939C= c.785C= (p.Thr262=) n.4195C= c.4187C= (p.Thr1396=) c.4046C= (p.Thr1349=) c.3122C= (p.Thr1041=) n.4260C= c.4019C= (p.Thr1340=) c.3095C= (p.Thr1032=) n.4242C= | |
18 | g.45910566G>T | CA402339875 | EPG5 | n.2344C>A c.4160C>A (p.Thr1387Asn) c.3900C>A (n.3900C>A) n.939C>A c.785C>A (p.Thr262Asn) n.4195C>A c.4187C>A (p.Thr1396Asn) c.4046C>A (p.Thr1349Asn) c.3122C>A (p.Thr1041Asn) n.4260C>A c.4019C>A (p.Thr1340Asn) c.3095C>A (p.Thr1032Asn) n.4242C>A | |
18 | g.45910567T>A | CA402339877 | EPG5 | n.2343A>T c.4159A>T (p.Thr1387Ser) c.3899A>T (n.3899A>T) n.938A>T c.784A>T (p.Thr262Ser) n.4194A>T c.4186A>T (p.Thr1396Ser) c.4045A>T (p.Thr1349Ser) c.3121A>T (p.Thr1041Ser) n.4259A>T c.4018A>T (p.Thr1340Ser) c.3094A>T (p.Thr1032Ser) n.4241A>T | |
18 | g.45910567T>C | CA402339879 | EPG5 | n.2343A>G c.4159A>G (p.Thr1387Ala) c.3899A>G (n.3899A>G) n.938A>G c.784A>G (p.Thr262Ala) n.4194A>G c.4186A>G (p.Thr1396Ala) c.4045A>G (p.Thr1349Ala) c.3121A>G (p.Thr1041Ala) n.4259A>G c.4018A>G (p.Thr1340Ala) c.3094A>G (p.Thr1032Ala) n.4241A>G | gnomAD v4 |
18 | g.45910567T>G | CA402339881 | EPG5 | n.2343A>C c.4159A>C (p.Thr1387Pro) c.3899A>C (n.3899A>C) n.938A>C c.784A>C (p.Thr262Pro) n.4194A>C c.4186A>C (p.Thr1396Pro) c.4045A>C (p.Thr1349Pro) c.3121A>C (p.Thr1041Pro) n.4259A>C c.4018A>C (p.Thr1340Pro) c.3094A>C (p.Thr1032Pro) n.4241A>C | |
18 | g.45910568G>A | CA503793673 | EPG5 | n.2342C>T c.4158C>T (p.Gly1386=) c.3898C>T (n.3898C>T) n.937C>T c.783C>T (p.Gly261=) n.4193C>T c.4185C>T (p.Gly1395=) c.4044C>T (p.Gly1348=) c.3120C>T (p.Gly1040=) n.4258C>T c.4017C>T (p.Gly1339=) c.3093C>T (p.Gly1031=) n.4240C>T | dbSNP gnomAD v2 gnomAD v4 COSMIC |
18 | g.45910568G>C | CA503793674 | EPG5 | n.2342C>G c.4158C>G (p.Gly1386=) c.3898C>G (n.3898C>G) n.937C>G c.783C>G (p.Gly261=) n.4193C>G c.4185C>G (p.Gly1395=) c.4044C>G (p.Gly1348=) c.3120C>G (p.Gly1040=) n.4258C>G c.4017C>G (p.Gly1339=) c.3093C>G (p.Gly1031=) n.4240C>G | |
18 | g.45910568G= | CA2300590860 | EPG5 | n.2342C= c.4158C= (p.Gly1386=) c.3898C= (n.3898C=) n.937C= c.783C= (p.Gly261=) n.4193C= c.4185C= (p.Gly1395=) c.4044C= (p.Gly1348=) c.3120C= (p.Gly1040=) n.4258C= c.4017C= (p.Gly1339=) c.3093C= (p.Gly1031=) n.4240C= | |
18 | g.45910568G>T | CA503793675 | EPG5 | n.2342C>A c.4158C>A (p.Gly1386=) c.3898C>A (n.3898C>A) n.937C>A c.783C>A (p.Gly261=) n.4193C>A c.4185C>A (p.Gly1395=) c.4044C>A (p.Gly1348=) c.3120C>A (p.Gly1040=) n.4258C>A c.4017C>A (p.Gly1339=) c.3093C>A (p.Gly1031=) n.4240C>A | |
18 | g.45910569C>A | CA402339883 | EPG5 | n.2341G>T c.4157G>T (p.Gly1386Val) c.3897G>T (n.3897G>T) n.936G>T c.782G>T (p.Gly261Val) n.4192G>T c.4184G>T (p.Gly1395Val) c.4043G>T (p.Gly1348Val) c.3119G>T (p.Gly1040Val) n.4257G>T c.4016G>T (p.Gly1339Val) c.3092G>T (p.Gly1031Val) n.4239G>T | COSMIC |
18 | g.45910569C>G | CA402339885 | EPG5 | n.2341G>C c.4157G>C (p.Gly1386Ala) c.3897G>C (n.3897G>C) n.936G>C c.782G>C (p.Gly261Ala) n.4192G>C c.4184G>C (p.Gly1395Ala) c.4043G>C (p.Gly1348Ala) c.3119G>C (p.Gly1040Ala) n.4257G>C c.4016G>C (p.Gly1339Ala) c.3092G>C (p.Gly1031Ala) n.4239G>C | |
18 | g.45910569C>T | CA402339887 | EPG5 | n.2341G>A c.4157G>A (p.Gly1386Asp) c.3897G>A (n.3897G>A) n.936G>A c.782G>A (p.Gly261Asp) n.4192G>A c.4184G>A (p.Gly1395Asp) c.4043G>A (p.Gly1348Asp) c.3119G>A (p.Gly1040Asp) n.4257G>A c.4016G>A (p.Gly1339Asp) c.3092G>A (p.Gly1031Asp) n.4239G>A | |
18 | g.45910570C>A | CA402339889 | EPG5 | n.2340G>T c.4156G>T (p.Gly1386Cys) c.3896G>T (n.3896G>T) n.935G>T c.781G>T (p.Gly261Cys) n.4191G>T c.4183G>T (p.Gly1395Cys) c.4042G>T (p.Gly1348Cys) c.3118G>T (p.Gly1040Cys) n.4256G>T c.4015G>T (p.Gly1339Cys) c.3091G>T (p.Gly1031Cys) n.4238G>T | |
18 | g.45910570C>G | CA402339891 | EPG5 | n.2340G>C c.4156G>C (p.Gly1386Arg) c.3896G>C (n.3896G>C) n.935G>C c.781G>C (p.Gly261Arg) n.4191G>C c.4183G>C (p.Gly1395Arg) c.4042G>C (p.Gly1348Arg) c.3118G>C (p.Gly1040Arg) n.4256G>C c.4015G>C (p.Gly1339Arg) c.3091G>C (p.Gly1031Arg) n.4238G>C | gnomAD v4 |
18 | g.45910570C>T | CA402339893 | EPG5 | n.2340G>A c.4156G>A (p.Gly1386Ser) c.3896G>A (n.3896G>A) n.935G>A c.781G>A (p.Gly261Ser) n.4191G>A c.4183G>A (p.Gly1395Ser) c.4042G>A (p.Gly1348Ser) c.3118G>A (p.Gly1040Ser) n.4256G>A c.4015G>A (p.Gly1339Ser) c.3091G>A (p.Gly1031Ser) n.4238G>A | |
18 | g.45910571A= | CA2300590861 | EPG5 | n.2339T= c.4155T= (p.Ser1385=) c.3895T= (n.3895T=) n.934T= c.780T= (p.Ser260=) n.4190T= c.4182T= (p.Ser1394=) c.4041T= (p.Ser1347=) c.3117T= (p.Ser1039=) n.4255T= c.4014T= (p.Ser1338=) c.3090T= (p.Ser1030=) n.4237T= | |
18 | g.45910571A>C | CA299760372 | EPG5 | n.2339T>G c.4155T>G (p.Ser1385=) c.3895T>G (n.3895T>G) n.934T>G c.780T>G (p.Ser260=) n.4190T>G c.4182T>G (p.Ser1394=) c.4041T>G (p.Ser1347=) c.3117T>G (p.Ser1039=) n.4255T>G c.4014T>G (p.Ser1338=) c.3090T>G (p.Ser1030=) n.4237T>G | dbSNP |
18 | g.45910571A>G | CA8948973 | EPG5 | n.2339T>C c.4155T>C (p.Ser1385=) c.3895T>C (n.3895T>C) n.934T>C c.780T>C (p.Ser260=) n.4190T>C c.4182T>C (p.Ser1394=) c.4041T>C (p.Ser1347=) c.3117T>C (p.Ser1039=) n.4255T>C c.4014T>C (p.Ser1338=) c.3090T>C (p.Ser1030=) n.4237T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.45910571A>T | CA503793676 | EPG5 | n.2339T>A c.4155T>A (p.Ser1385=) c.3895T>A (n.3895T>A) n.934T>A c.780T>A (p.Ser260=) n.4190T>A c.4182T>A (p.Ser1394=) c.4041T>A (p.Ser1347=) c.3117T>A (p.Ser1039=) n.4255T>A c.4014T>A (p.Ser1338=) c.3090T>A (p.Ser1030=) n.4237T>A | |
18 | g.45910572G>A | CA402339897 | EPG5 | n.2338C>T c.4154C>T (p.Ser1385Phe) c.3894C>T (n.3894C>T) n.933C>T c.779C>T (p.Ser260Phe) n.4189C>T c.4181C>T (p.Ser1394Phe) c.4040C>T (p.Ser1347Phe) c.3116C>T (p.Ser1039Phe) n.4254C>T c.4013C>T (p.Ser1338Phe) c.3089C>T (p.Ser1030Phe) n.4236C>T | |
18 | g.45910572G>C | CA8948974 | EPG5 | n.2338C>G c.4154C>G (p.Ser1385Cys) c.3894C>G (n.3894C>G) n.933C>G c.779C>G (p.Ser260Cys) n.4189C>G c.4181C>G (p.Ser1394Cys) c.4040C>G (p.Ser1347Cys) c.3116C>G (p.Ser1039Cys) n.4254C>G c.4013C>G (p.Ser1338Cys) c.3089C>G (p.Ser1030Cys) n.4236C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.45910572G= | CA2300590862 | EPG5 | n.2338C= c.4154C= (p.Ser1385=) c.3894C= (n.3894C=) n.933C= c.779C= (p.Ser260=) n.4189C= c.4181C= (p.Ser1394=) c.4040C= (p.Ser1347=) c.3116C= (p.Ser1039=) n.4254C= c.4013C= (p.Ser1338=) c.3089C= (p.Ser1030=) n.4236C= | |
18 | g.45910572G>T | CA402339900 | EPG5 | n.2338C>A c.4154C>A (p.Ser1385Tyr) c.3894C>A (n.3894C>A) n.933C>A c.779C>A (p.Ser260Tyr) n.4189C>A c.4181C>A (p.Ser1394Tyr) c.4040C>A (p.Ser1347Tyr) c.3116C>A (p.Ser1039Tyr) n.4254C>A c.4013C>A (p.Ser1338Tyr) c.3089C>A (p.Ser1030Tyr) n.4236C>A | |
18 | g.45910573A>C | CA402339902 | EPG5 | n.2337T>G c.4153T>G (p.Ser1385Ala) c.3893T>G (n.3893T>G) n.932T>G c.778T>G (p.Ser260Ala) n.4188T>G c.4180T>G (p.Ser1394Ala) c.4039T>G (p.Ser1347Ala) c.3115T>G (p.Ser1039Ala) n.4253T>G c.4012T>G (p.Ser1338Ala) c.3088T>G (p.Ser1030Ala) n.4235T>G | |
18 | g.45910573A>G | CA402339904 | EPG5 | n.2337T>C c.4153T>C (p.Ser1385Pro) c.3893T>C (n.3893T>C) n.932T>C c.778T>C (p.Ser260Pro) n.4188T>C c.4180T>C (p.Ser1394Pro) c.4039T>C (p.Ser1347Pro) c.3115T>C (p.Ser1039Pro) n.4253T>C c.4012T>C (p.Ser1338Pro) c.3088T>C (p.Ser1030Pro) n.4235T>C | |
18 | g.45910573A>T | CA402339905 | EPG5 | n.2337T>A c.4153T>A (p.Ser1385Thr) c.3893T>A (n.3893T>A) n.932T>A c.778T>A (p.Ser260Thr) n.4188T>A c.4180T>A (p.Ser1394Thr) c.4039T>A (p.Ser1347Thr) c.3115T>A (p.Ser1039Thr) n.4253T>A c.4012T>A (p.Ser1338Thr) c.3088T>A (p.Ser1030Thr) n.4235T>A | |
18 | g.45910574G>A | CA503793678 | EPG5 | n.2336C>T c.4152C>T (p.His1384=) c.3892C>T (n.3892C>T) n.931C>T c.777C>T (p.His259=) n.4187C>T c.4179C>T (p.His1393=) c.4038C>T (p.His1346=) c.3114C>T (p.His1038=) n.4252C>T c.4011C>T (p.His1337=) c.3087C>T (p.His1029=) n.4234C>T | ClinVar gnomAD v4 |
18 | g.45910574G>C | CA8948975 | EPG5 | n.2336C>G c.4152C>G (p.His1384Gln) c.3892C>G (n.3892C>G) n.931C>G c.777C>G (p.His259Gln) n.4187C>G c.4179C>G (p.His1393Gln) c.4038C>G (p.His1346Gln) c.3114C>G (p.His1038Gln) n.4252C>G c.4011C>G (p.His1337Gln) c.3087C>G (p.His1029Gln) n.4234C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.45910574G= | CA2300590863 | EPG5 | n.2336C= c.4152C= (p.His1384=) c.3892C= (n.3892C=) n.931C= c.777C= (p.His259=) n.4187C= c.4179C= (p.His1393=) c.4038C= (p.His1346=) c.3114C= (p.His1038=) n.4252C= c.4011C= (p.His1337=) c.3087C= (p.His1029=) n.4234C= | |
18 | g.45910574G>T | CA402339907 | EPG5 | n.2336C>A c.4152C>A (p.His1384Gln) c.3892C>A (n.3892C>A) n.931C>A c.777C>A (p.His259Gln) n.4187C>A c.4179C>A (p.His1393Gln) c.4038C>A (p.His1346Gln) c.3114C>A (p.His1038Gln) n.4252C>A c.4011C>A (p.His1337Gln) c.3087C>A (p.His1029Gln) n.4234C>A | |
18 | g.45910575T>A | CA402339909 | EPG5 | n.2335A>T c.4151A>T (p.His1384Leu) c.3891A>T (n.3891A>T) n.930A>T c.776A>T (p.His259Leu) n.4186A>T c.4178A>T (p.His1393Leu) c.4037A>T (p.His1346Leu) c.3113A>T (p.His1038Leu) n.4251A>T c.4010A>T (p.His1337Leu) c.3086A>T (p.His1029Leu) n.4233A>T | |
18 | g.45910575T>C | CA402339911 | EPG5 | n.2335A>G c.4151A>G (p.His1384Arg) c.3891A>G (n.3891A>G) n.930A>G c.776A>G (p.His259Arg) n.4186A>G c.4178A>G (p.His1393Arg) c.4037A>G (p.His1346Arg) c.3113A>G (p.His1038Arg) n.4251A>G c.4010A>G (p.His1337Arg) c.3086A>G (p.His1029Arg) n.4233A>G | |
18 | g.45910575T>G | CA402339913 | EPG5 | n.2335A>C c.4151A>C (p.His1384Pro) c.3891A>C (n.3891A>C) n.930A>C c.776A>C (p.His259Pro) n.4186A>C c.4178A>C (p.His1393Pro) c.4037A>C (p.His1346Pro) c.3113A>C (p.His1038Pro) n.4251A>C c.4010A>C (p.His1337Pro) c.3086A>C (p.His1029Pro) n.4233A>C | |
18 | g.45910576G>A | CA402339919 | EPG5 | n.2334C>T c.4150C>T (p.His1384Tyr) c.3890C>T (n.3890C>T) n.929C>T c.775C>T (p.His259Tyr) n.4185C>T c.4177C>T (p.His1393Tyr) c.4036C>T (p.His1346Tyr) c.3112C>T (p.His1038Tyr) n.4250C>T c.4009C>T (p.His1337Tyr) c.3085C>T (p.His1029Tyr) n.4232C>T | gnomAD v4 COSMIC |
18 | g.45910576G>C | CA402339917 | EPG5 | n.2334C>G c.4150C>G (p.His1384Asp) c.3890C>G (n.3890C>G) n.929C>G c.775C>G (p.His259Asp) n.4185C>G c.4177C>G (p.His1393Asp) c.4036C>G (p.His1346Asp) c.3112C>G (p.His1038Asp) n.4250C>G c.4009C>G (p.His1337Asp) c.3085C>G (p.His1029Asp) n.4232C>G | |
18 | g.45910576G>T | CA402339915 | EPG5 | n.2334C>A c.4150C>A (p.His1384Asn) c.3890C>A (n.3890C>A) n.929C>A c.775C>A (p.His259Asn) n.4185C>A c.4177C>A (p.His1393Asn) c.4036C>A (p.His1346Asn) c.3112C>A (p.His1038Asn) n.4250C>A c.4009C>A (p.His1337Asn) c.3085C>A (p.His1029Asn) n.4232C>A | |
18 | g.45910577G>A | CA503793680 | EPG5 | n.2333C>T c.4149C>T (p.Ser1383=) c.3889C>T (n.3889C>T) n.928C>T c.774C>T (p.Ser258=) n.4184C>T c.4176C>T (p.Ser1392=) c.4035C>T (p.Ser1345=) c.3111C>T (p.Ser1037=) n.4249C>T c.4008C>T (p.Ser1336=) c.3084C>T (p.Ser1028=) n.4231C>T | |
18 | g.45910577G>C | CA402339923 | EPG5 | n.2333C>G c.4149C>G (p.Ser1383Arg) c.3889C>G (n.3889C>G) n.928C>G c.774C>G (p.Ser258Arg) n.4184C>G c.4176C>G (p.Ser1392Arg) c.4035C>G (p.Ser1345Arg) c.3111C>G (p.Ser1037Arg) n.4249C>G c.4008C>G (p.Ser1336Arg) c.3084C>G (p.Ser1028Arg) n.4231C>G | |
18 | g.45910577G>T | CA402339922 | EPG5 | n.2333C>A c.4149C>A (p.Ser1383Arg) c.3889C>A (n.3889C>A) n.928C>A c.774C>A (p.Ser258Arg) n.4184C>A c.4176C>A (p.Ser1392Arg) c.4035C>A (p.Ser1345Arg) c.3111C>A (p.Ser1037Arg) n.4249C>A c.4008C>A (p.Ser1336Arg) c.3084C>A (p.Ser1028Arg) n.4231C>A | |
18 | g.45910578C>A | CA402339926 | EPG5 | n.2332G>T c.4148G>T (p.Ser1383Ile) c.3888G>T (n.3888G>T) n.927G>T c.773G>T (p.Ser258Ile) n.4183G>T c.4175G>T (p.Ser1392Ile) c.4034G>T (p.Ser1345Ile) c.3110G>T (p.Ser1037Ile) n.4248G>T c.4007G>T (p.Ser1336Ile) c.3083G>T (p.Ser1028Ile) n.4230G>T | |
18 | g.45910578C= | CA2300590864 | EPG5 | n.2332G= c.4148G= (p.Ser1383=) c.3888G= (n.3888G=) n.927G= c.773G= (p.Ser258=) n.4183G= c.4175G= (p.Ser1392=) c.4034G= (p.Ser1345=) c.3110G= (p.Ser1037=) n.4248G= c.4007G= (p.Ser1336=) c.3083G= (p.Ser1028=) n.4230G= | |
18 | g.45910578C>G | CA402339928 | EPG5 | n.2332G>C c.4148G>C (p.Ser1383Thr) c.3888G>C (n.3888G>C) n.927G>C c.773G>C (p.Ser258Thr) n.4183G>C c.4175G>C (p.Ser1392Thr) c.4034G>C (p.Ser1345Thr) c.3110G>C (p.Ser1037Thr) n.4248G>C c.4007G>C (p.Ser1336Thr) c.3083G>C (p.Ser1028Thr) n.4230G>C | |
18 | g.45910578C>T | CA8948976 | EPG5 | n.2332G>A c.4148G>A (p.Ser1383Asn) c.3888G>A (n.3888G>A) n.927G>A c.773G>A (p.Ser258Asn) n.4183G>A c.4175G>A (p.Ser1392Asn) c.4034G>A (p.Ser1345Asn) c.3110G>A (p.Ser1037Asn) n.4248G>A c.4007G>A (p.Ser1336Asn) c.3083G>A (p.Ser1028Asn) n.4230G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.45910579T>A | CA402339931 | EPG5 | n.2331A>T c.4147A>T (p.Ser1383Cys) c.3887A>T (n.3887A>T) n.926A>T c.772A>T (p.Ser258Cys) n.4182A>T c.4174A>T (p.Ser1392Cys) c.4033A>T (p.Ser1345Cys) c.3109A>T (p.Ser1037Cys) n.4247A>T c.4006A>T (p.Ser1336Cys) c.3082A>T (p.Ser1028Cys) n.4229A>T | gnomAD v4 |
18 | g.45910579T>C | CA402339933 | EPG5 | n.2331A>G c.4147A>G (p.Ser1383Gly) c.3887A>G (n.3887A>G) n.926A>G c.772A>G (p.Ser258Gly) n.4182A>G c.4174A>G (p.Ser1392Gly) c.4033A>G (p.Ser1345Gly) c.3109A>G (p.Ser1037Gly) n.4247A>G c.4006A>G (p.Ser1336Gly) c.3082A>G (p.Ser1028Gly) n.4229A>G | |
18 | g.45910579T>G | CA402339934 | EPG5 | n.2331A>C c.4147A>C (p.Ser1383Arg) c.3887A>C (n.3887A>C) n.926A>C c.772A>C (p.Ser258Arg) n.4182A>C c.4174A>C (p.Ser1392Arg) c.4033A>C (p.Ser1345Arg) c.3109A>C (p.Ser1037Arg) n.4247A>C c.4006A>C (p.Ser1336Arg) c.3082A>C (p.Ser1028Arg) n.4229A>C | |
18 | g.45910580C>A | CA402339937 | EPG5 | n.2330G>T c.4146G>T (p.Glu1382Asp) c.3886G>T (n.3886G>T) n.925G>T c.771G>T (p.Glu257Asp) n.4181G>T c.4173G>T (p.Glu1391Asp) c.4032G>T (p.Glu1344Asp) c.3108G>T (p.Glu1036Asp) n.4246G>T c.4005G>T (p.Glu1335Asp) c.3081G>T (p.Glu1027Asp) n.4228G>T | |
18 | g.45910580C>G | CA402339939 | EPG5 | n.2330G>C c.4146G>C (p.Glu1382Asp) c.3886G>C (n.3886G>C) n.925G>C c.771G>C (p.Glu257Asp) n.4181G>C c.4173G>C (p.Glu1391Asp) c.4032G>C (p.Glu1344Asp) c.3108G>C (p.Glu1036Asp) n.4246G>C c.4005G>C (p.Glu1335Asp) c.3081G>C (p.Glu1027Asp) n.4228G>C | |
18 | g.45910580C>T | CA503793684 | EPG5 | n.2330G>A c.4146G>A (p.Glu1382=) c.3886G>A (n.3886G>A) n.925G>A c.771G>A (p.Glu257=) n.4181G>A c.4173G>A (p.Glu1391=) c.4032G>A (p.Glu1344=) c.3108G>A (p.Glu1036=) n.4246G>A c.4005G>A (p.Glu1335=) c.3081G>A (p.Glu1027=) n.4228G>A | |
18 | g.45910581T>A | CA402339940 | EPG5 | n.2329A>T c.4145A>T (p.Glu1382Val) c.3885A>T (n.3885A>T) n.924A>T c.770A>T (p.Glu257Val) n.4180A>T c.4172A>T (p.Glu1391Val) c.4031A>T (p.Glu1344Val) c.3107A>T (p.Glu1036Val) n.4245A>T c.4004A>T (p.Glu1335Val) c.3080A>T (p.Glu1027Val) n.4227A>T | |
18 | g.45910581T>C | CA402339942 | EPG5 | n.2329A>G c.4145A>G (p.Glu1382Gly) c.3885A>G (n.3885A>G) n.924A>G c.770A>G (p.Glu257Gly) n.4180A>G c.4172A>G (p.Glu1391Gly) c.4031A>G (p.Glu1344Gly) c.3107A>G (p.Glu1036Gly) n.4245A>G c.4004A>G (p.Glu1335Gly) c.3080A>G (p.Glu1027Gly) n.4227A>G | dbSNP gnomAD v2 gnomAD v4 |
18 | g.45910581T>G | CA402339944 | EPG5 | n.2329A>C c.4145A>C (p.Glu1382Ala) c.3885A>C (n.3885A>C) n.924A>C c.770A>C (p.Glu257Ala) n.4180A>C c.4172A>C (p.Glu1391Ala) c.4031A>C (p.Glu1344Ala) c.3107A>C (p.Glu1036Ala) n.4245A>C c.4004A>C (p.Glu1335Ala) c.3080A>C (p.Glu1027Ala) n.4227A>C | |
18 | g.45910581T= | CA2300590865 | EPG5 | n.2329A= c.4145A= (p.Glu1382=) c.3885A= (n.3885A=) n.924A= c.770A= (p.Glu257=) n.4180A= c.4172A= (p.Glu1391=) c.4031A= (p.Glu1344=) c.3107A= (p.Glu1036=) n.4245A= c.4004A= (p.Glu1335=) c.3080A= (p.Glu1027=) n.4227A= | |
18 | g.45910582C>A | CA402339948 | EPG5 | n.2328G>T c.4144G>T (p.Glu1382Ter) c.3884G>T (n.3884G>T) n.923G>T c.769G>T (p.Glu257Ter) n.4179G>T c.4171G>T (p.Glu1391Ter) c.4030G>T (p.Glu1344Ter) c.3106G>T (p.Glu1036Ter) n.4244G>T c.4003G>T (p.Glu1335Ter) c.3079G>T (p.Glu1027Ter) n.4226G>T | |
18 | g.45910582C>G | CA402339950 | EPG5 | n.2328G>C c.4144G>C (p.Glu1382Gln) c.3884G>C (n.3884G>C) n.923G>C c.769G>C (p.Glu257Gln) n.4179G>C c.4171G>C (p.Glu1391Gln) c.4030G>C (p.Glu1344Gln) c.3106G>C (p.Glu1036Gln) n.4244G>C c.4003G>C (p.Glu1335Gln) c.3079G>C (p.Glu1027Gln) n.4226G>C | |
18 | g.45910582C>T | CA402339946 | EPG5 | n.2328G>A c.4144G>A (p.Glu1382Lys) c.3884G>A (n.3884G>A) n.923G>A c.769G>A (p.Glu257Lys) n.4179G>A c.4171G>A (p.Glu1391Lys) c.4030G>A (p.Glu1344Lys) c.3106G>A (p.Glu1036Lys) n.4244G>A c.4003G>A (p.Glu1335Lys) c.3079G>A (p.Glu1027Lys) n.4226G>A | |
18 | g.45910583T>A | CA503793690 | EPG5 | n.2327A>T c.4143A>T (p.Pro1381=) c.3883A>T (n.3883A>T) n.922A>T c.768A>T (p.Pro256=) n.4178A>T c.4170A>T (p.Pro1390=) c.4029A>T (p.Pro1343=) c.3105A>T (p.Pro1035=) n.4243A>T c.4002A>T (p.Pro1334=) c.3078A>T (p.Pro1026=) n.4225A>T | |
18 | g.45910583T>C | CA503793689 | EPG5 | n.2327A>G c.4143A>G (p.Pro1381=) c.3883A>G (n.3883A>G) n.922A>G c.768A>G (p.Pro256=) n.4178A>G c.4170A>G (p.Pro1390=) c.4029A>G (p.Pro1343=) c.3105A>G (p.Pro1035=) n.4243A>G c.4002A>G (p.Pro1334=) c.3078A>G (p.Pro1026=) n.4225A>G | |
18 | g.45910583T>G | CA503793688 | EPG5 | n.2327A>C c.4143A>C (p.Pro1381=) c.3883A>C (n.3883A>C) n.922A>C c.768A>C (p.Pro256=) n.4178A>C c.4170A>C (p.Pro1390=) c.4029A>C (p.Pro1343=) c.3105A>C (p.Pro1035=) n.4243A>C c.4002A>C (p.Pro1334=) c.3078A>C (p.Pro1026=) n.4225A>C | gnomAD v4 |
18 | g.45910584G>A | CA402339953 | EPG5 | n.2326C>T c.4142C>T (p.Pro1381Leu) c.3882C>T (n.3882C>T) n.921C>T c.767C>T (p.Pro256Leu) n.4177C>T c.4169C>T (p.Pro1390Leu) c.4028C>T (p.Pro1343Leu) c.3104C>T (p.Pro1035Leu) n.4242C>T c.4001C>T (p.Pro1334Leu) c.3077C>T (p.Pro1026Leu) n.4224C>T | |
18 | g.45910584G>C | CA402339954 | EPG5 | n.2326C>G c.4142C>G (p.Pro1381Arg) c.3882C>G (n.3882C>G) n.921C>G c.767C>G (p.Pro256Arg) n.4177C>G c.4169C>G (p.Pro1390Arg) c.4028C>G (p.Pro1343Arg) c.3104C>G (p.Pro1035Arg) n.4242C>G c.4001C>G (p.Pro1334Arg) c.3077C>G (p.Pro1026Arg) n.4224C>G | |
18 | g.45910584G>T | CA402339956 | EPG5 | n.2326C>A c.4142C>A (p.Pro1381Gln) c.3882C>A (n.3882C>A) n.921C>A c.767C>A (p.Pro256Gln) n.4177C>A c.4169C>A (p.Pro1390Gln) c.4028C>A (p.Pro1343Gln) c.3104C>A (p.Pro1035Gln) n.4242C>A c.4001C>A (p.Pro1334Gln) c.3077C>A (p.Pro1026Gln) n.4224C>A | |
18 | g.45910585G>A | CA402339959 | EPG5 | n.2325C>T c.4141C>T (p.Pro1381Ser) c.3881C>T (n.3881C>T) n.920C>T c.766C>T (p.Pro256Ser) n.4176C>T c.4168C>T (p.Pro1390Ser) c.4027C>T (p.Pro1343Ser) c.3103C>T (p.Pro1035Ser) n.4241C>T c.4000C>T (p.Pro1334Ser) c.3076C>T (p.Pro1026Ser) n.4223C>T | gnomAD v4 |
18 | g.45910585G>C | CA402339960 | EPG5 | n.2325C>G c.4141C>G (p.Pro1381Ala) c.3881C>G (n.3881C>G) n.920C>G c.766C>G (p.Pro256Ala) n.4176C>G c.4168C>G (p.Pro1390Ala) c.4027C>G (p.Pro1343Ala) c.3103C>G (p.Pro1035Ala) n.4241C>G c.4000C>G (p.Pro1334Ala) c.3076C>G (p.Pro1026Ala) n.4223C>G | |
18 | g.45910585G>T | CA402339962 | EPG5 | n.2325C>A c.4141C>A (p.Pro1381Thr) c.3881C>A (n.3881C>A) n.920C>A c.766C>A (p.Pro256Thr) n.4176C>A c.4168C>A (p.Pro1390Thr) c.4027C>A (p.Pro1343Thr) c.3103C>A (p.Pro1035Thr) n.4241C>A c.4000C>A (p.Pro1334Thr) c.3076C>A (p.Pro1026Thr) n.4223C>A | |
18 | g.45910586C>A | CA503793693 | EPG5 | n.2324G>T c.4140G>T (p.Leu1380=) c.3880G>T (n.3880G>T) n.919G>T c.765G>T (p.Leu255=) n.4175G>T c.4167G>T (p.Leu1389=) c.4026G>T (p.Leu1342=) c.3102G>T (p.Leu1034=) n.4240G>T c.3999G>T (p.Leu1333=) c.3075G>T (p.Leu1025=) n.4222G>T | gnomAD v4 |
18 | g.45910586C>G | CA503793695 | EPG5 | n.2324G>C c.4140G>C (p.Leu1380=) c.3880G>C (n.3880G>C) n.919G>C c.765G>C (p.Leu255=) n.4175G>C c.4167G>C (p.Leu1389=) c.4026G>C (p.Leu1342=) c.3102G>C (p.Leu1034=) n.4240G>C c.3999G>C (p.Leu1333=) c.3075G>C (p.Leu1025=) n.4222G>C | |
18 | g.45910586C>T | CA503793694 | EPG5 | n.2324G>A c.4140G>A (p.Leu1380=) c.3880G>A (n.3880G>A) n.919G>A c.765G>A (p.Leu255=) n.4175G>A c.4167G>A (p.Leu1389=) c.4026G>A (p.Leu1342=) c.3102G>A (p.Leu1034=) n.4240G>A c.3999G>A (p.Leu1333=) c.3075G>A (p.Leu1025=) n.4222G>A | |
18 | g.45910587A>C | CA402339964 | EPG5 | n.2323T>G c.4139T>G (p.Leu1380Arg) c.3879T>G (n.3879T>G) n.918T>G c.764T>G (p.Leu255Arg) n.4174T>G c.4166T>G (p.Leu1389Arg) c.4025T>G (p.Leu1342Arg) c.3101T>G (p.Leu1034Arg) n.4239T>G c.3998T>G (p.Leu1333Arg) c.3074T>G (p.Leu1025Arg) n.4221T>G | |
18 | g.45910587A>G | CA402339968 | EPG5 | n.2323T>C c.4139T>C (p.Leu1380Pro) c.3879T>C (n.3879T>C) n.918T>C c.764T>C (p.Leu255Pro) n.4174T>C c.4166T>C (p.Leu1389Pro) c.4025T>C (p.Leu1342Pro) c.3101T>C (p.Leu1034Pro) n.4239T>C c.3998T>C (p.Leu1333Pro) c.3074T>C (p.Leu1025Pro) n.4221T>C | gnomAD v4 |
18 | g.45910587A>T | CA402339966 | EPG5 | n.2323T>A c.4139T>A (p.Leu1380Gln) c.3879T>A (n.3879T>A) n.918T>A c.764T>A (p.Leu255Gln) n.4174T>A c.4166T>A (p.Leu1389Gln) c.4025T>A (p.Leu1342Gln) c.3101T>A (p.Leu1034Gln) n.4239T>A c.3998T>A (p.Leu1333Gln) c.3074T>A (p.Leu1025Gln) n.4221T>A | |
18 | g.45910588G>A | CA503793697 | EPG5 | n.2322C>T c.4138C>T (p.Leu1380=) c.3878C>T (n.3878C>T) n.917C>T c.763C>T (p.Leu255=) n.4173C>T c.4165C>T (p.Leu1389=) c.4024C>T (p.Leu1342=) c.3100C>T (p.Leu1034=) n.4238C>T c.3997C>T (p.Leu1333=) c.3073C>T (p.Leu1025=) n.4220C>T | |
18 | g.45910588G>C | CA402339970 | EPG5 | n.2322C>G c.4138C>G (p.Leu1380Val) c.3878C>G (n.3878C>G) n.917C>G c.763C>G (p.Leu255Val) n.4173C>G c.4165C>G (p.Leu1389Val) c.4024C>G (p.Leu1342Val) c.3100C>G (p.Leu1034Val) n.4238C>G c.3997C>G (p.Leu1333Val) c.3073C>G (p.Leu1025Val) n.4220C>G | |
18 | g.45910588G>T | CA402339971 | EPG5 | n.2322C>A c.4138C>A (p.Leu1380Met) c.3878C>A (n.3878C>A) n.917C>A c.763C>A (p.Leu255Met) n.4173C>A c.4165C>A (p.Leu1389Met) c.4024C>A (p.Leu1342Met) c.3100C>A (p.Leu1034Met) n.4238C>A c.3997C>A (p.Leu1333Met) c.3073C>A (p.Leu1025Met) n.4220C>A | |
18 | g.45910589C>A | CA503793698 | EPG5 | n.2321G>T c.4137G>T (p.Gly1379=) c.3877G>T (n.3877G>T) n.916G>T c.762G>T (p.Gly254=) n.4172G>T c.4164G>T (p.Gly1388=) c.4023G>T (p.Gly1341=) c.3099G>T (p.Gly1033=) n.4237G>T c.3996G>T (p.Gly1332=) c.3072G>T (p.Gly1024=) n.4219G>T | |
18 | g.45910589C= | CA2300590866 | EPG5 | n.2321G= c.4137G= (p.Gly1379=) c.3877G= (n.3877G=) n.916G= c.762G= (p.Gly254=) n.4172G= c.4164G= (p.Gly1388=) c.4023G= (p.Gly1341=) c.3099G= (p.Gly1033=) n.4237G= c.3996G= (p.Gly1332=) c.3072G= (p.Gly1024=) n.4219G= | |
18 | g.45910589C>G | CA503793700 | EPG5 | n.2321G>C c.4137G>C (p.Gly1379=) c.3877G>C (n.3877G>C) n.916G>C c.762G>C (p.Gly254=) n.4172G>C c.4164G>C (p.Gly1388=) c.4023G>C (p.Gly1341=) c.3099G>C (p.Gly1033=) n.4237G>C c.3996G>C (p.Gly1332=) c.3072G>C (p.Gly1024=) n.4219G>C | |
18 | g.45910589C>T | CA503793701 | EPG5 | n.2321G>A c.4137G>A (p.Gly1379=) c.3877G>A (n.3877G>A) n.916G>A c.762G>A (p.Gly254=) n.4172G>A c.4164G>A (p.Gly1388=) c.4023G>A (p.Gly1341=) c.3099G>A (p.Gly1033=) n.4237G>A c.3996G>A (p.Gly1332=) c.3072G>A (p.Gly1024=) n.4219G>A | dbSNP |
18 | g.45910590C>A | CA8948977 | EPG5 | n.2320G>T c.4136G>T (p.Gly1379Val) c.3876G>T (n.3876G>T) n.915G>T c.761G>T (p.Gly254Val) n.4171G>T c.4163G>T (p.Gly1388Val) c.4022G>T (p.Gly1341Val) c.3098G>T (p.Gly1033Val) n.4236G>T c.3995G>T (p.Gly1332Val) c.3071G>T (p.Gly1024Val) n.4218G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.45910590C= | CA2300590867 | EPG5 | n.2320G= c.4136G= (p.Gly1379=) c.3876G= (n.3876G=) n.915G= c.761G= (p.Gly254=) n.4171G= c.4163G= (p.Gly1388=) c.4022G= (p.Gly1341=) c.3098G= (p.Gly1033=) n.4236G= c.3995G= (p.Gly1332=) c.3071G= (p.Gly1024=) n.4218G= | |
18 | g.45910590C>G | CA402339974 | EPG5 | n.2320G>C c.4136G>C (p.Gly1379Ala) c.3876G>C (n.3876G>C) n.915G>C c.761G>C (p.Gly254Ala) n.4171G>C c.4163G>C (p.Gly1388Ala) c.4022G>C (p.Gly1341Ala) c.3098G>C (p.Gly1033Ala) n.4236G>C c.3995G>C (p.Gly1332Ala) c.3071G>C (p.Gly1024Ala) n.4218G>C | |
18 | g.45910590C>T | CA402339976 | EPG5 | n.2320G>A c.4136G>A (p.Gly1379Glu) c.3876G>A (n.3876G>A) n.915G>A c.761G>A (p.Gly254Glu) n.4171G>A c.4163G>A (p.Gly1388Glu) c.4022G>A (p.Gly1341Glu) c.3098G>A (p.Gly1033Glu) n.4236G>A c.3995G>A (p.Gly1332Glu) c.3071G>A (p.Gly1024Glu) n.4218G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.45910591C>A | CA402339982 | EPG5 | n.2319G>T c.4135G>T (p.Gly1379Trp) c.3875G>T (n.3875G>T) n.914G>T c.760G>T (p.Gly254Trp) n.4170G>T c.4162G>T (p.Gly1388Trp) c.4021G>T (p.Gly1341Trp) c.3097G>T (p.Gly1033Trp) n.4235G>T c.3994G>T (p.Gly1332Trp) c.3070G>T (p.Gly1024Trp) n.4217G>T | dbSNP gnomAD v3 gnomAD v4 |
18 | g.45910591C= | CA2300590868 | EPG5 | n.2319G= c.4135G= (p.Gly1379=) c.3875G= (n.3875G=) n.914G= c.760G= (p.Gly254=) n.4170G= c.4162G= (p.Gly1388=) c.4021G= (p.Gly1341=) c.3097G= (p.Gly1033=) n.4235G= c.3994G= (p.Gly1332=) c.3070G= (p.Gly1024=) n.4217G= | |
18 | g.45910591C>G | CA402339980 | EPG5 | n.2319G>C c.4135G>C (p.Gly1379Arg) c.3875G>C (n.3875G>C) n.914G>C c.760G>C (p.Gly254Arg) n.4170G>C c.4162G>C (p.Gly1388Arg) c.4021G>C (p.Gly1341Arg) c.3097G>C (p.Gly1033Arg) n.4235G>C c.3994G>C (p.Gly1332Arg) c.3070G>C (p.Gly1024Arg) n.4217G>C | |
18 | g.45910591C>T | CA402339978 | EPG5 | n.2319G>A c.4135G>A (p.Gly1379Arg) c.3875G>A (n.3875G>A) n.914G>A c.760G>A (p.Gly254Arg) n.4170G>A c.4162G>A (p.Gly1388Arg) c.4021G>A (p.Gly1341Arg) c.3097G>A (p.Gly1033Arg) n.4235G>A c.3994G>A (p.Gly1332Arg) c.3070G>A (p.Gly1024Arg) n.4217G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.45910592T>A | CA402339984 | EPG5 | n.2318A>T c.4134A>T (p.Glu1378Asp) c.3874A>T (n.3874A>T) n.913A>T c.759A>T (p.Glu253Asp) n.4169A>T c.4161A>T (p.Glu1387Asp) c.4020A>T (p.Glu1340Asp) c.3096A>T (p.Glu1032Asp) n.4234A>T c.3993A>T (p.Glu1331Asp) c.3069A>T (p.Glu1023Asp) n.4216A>T | |
18 | g.45910592T>C | CA8948978 | EPG5 | n.2318A>G c.4134A>G (p.Glu1378=) c.3874A>G (n.3874A>G) n.913A>G c.759A>G (p.Glu253=) n.4169A>G c.4161A>G (p.Glu1387=) c.4020A>G (p.Glu1340=) c.3096A>G (p.Glu1032=) n.4234A>G c.3993A>G (p.Glu1331=) c.3069A>G (p.Glu1023=) n.4216A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.45910592T>G | CA402339987 | EPG5 | n.2318A>C c.4134A>C (p.Glu1378Asp) c.3874A>C (n.3874A>C) n.913A>C c.759A>C (p.Glu253Asp) n.4169A>C c.4161A>C (p.Glu1387Asp) c.4020A>C (p.Glu1340Asp) c.3096A>C (p.Glu1032Asp) n.4234A>C c.3993A>C (p.Glu1331Asp) c.3069A>C (p.Glu1023Asp) n.4216A>C | |
18 | g.45910592T= | CA2300590869 | EPG5 | n.2318A= c.4134A= (p.Glu1378=) c.3874A= (n.3874A=) n.913A= c.759A= (p.Glu253=) n.4169A= c.4161A= (p.Glu1387=) c.4020A= (p.Glu1340=) c.3096A= (p.Glu1032=) n.4234A= c.3993A= (p.Glu1331=) c.3069A= (p.Glu1023=) n.4216A= | |
18 | g.45910593T>A | CA402339988 | EPG5 | n.2317A>T c.4133A>T (p.Glu1378Val) c.3873A>T (n.3873A>T) n.912A>T c.758A>T (p.Glu253Val) n.4168A>T c.4160A>T (p.Glu1387Val) c.4019A>T (p.Glu1340Val) c.3095A>T (p.Glu1032Val) n.4233A>T c.3992A>T (p.Glu1331Val) c.3068A>T (p.Glu1023Val) n.4215A>T | gnomAD v4 |
18 | g.45910593T>C | CA402339990 | EPG5 | n.2317A>G c.4133A>G (p.Glu1378Gly) c.3873A>G (n.3873A>G) n.912A>G c.758A>G (p.Glu253Gly) n.4168A>G c.4160A>G (p.Glu1387Gly) c.4019A>G (p.Glu1340Gly) c.3095A>G (p.Glu1032Gly) n.4233A>G c.3992A>G (p.Glu1331Gly) c.3068A>G (p.Glu1023Gly) n.4215A>G | dbSNP gnomAD v2 |
18 | g.45910593T>G | CA402339992 | EPG5 | n.2317A>C c.4133A>C (p.Glu1378Ala) c.3873A>C (n.3873A>C) n.912A>C c.758A>C (p.Glu253Ala) n.4168A>C c.4160A>C (p.Glu1387Ala) c.4019A>C (p.Glu1340Ala) c.3095A>C (p.Glu1032Ala) n.4233A>C c.3992A>C (p.Glu1331Ala) c.3068A>C (p.Glu1023Ala) n.4215A>C | |
18 | g.45910593T= | CA2300590870 | EPG5 | n.2317A= c.4133A= (p.Glu1378=) c.3873A= (n.3873A=) n.912A= c.758A= (p.Glu253=) n.4168A= c.4160A= (p.Glu1387=) c.4019A= (p.Glu1340=) c.3095A= (p.Glu1032=) n.4233A= c.3992A= (p.Glu1331=) c.3068A= (p.Glu1023=) n.4215A= | |
18 | g.45910594C>A | CA402339994 | EPG5 | n.2316G>T c.4132G>T (p.Glu1378Ter) c.3872G>T (n.3872G>T) n.911G>T c.757G>T (p.Glu253Ter) n.4167G>T c.4159G>T (p.Glu1387Ter) c.4018G>T (p.Glu1340Ter) c.3094G>T (p.Glu1032Ter) n.4232G>T c.3991G>T (p.Glu1331Ter) c.3067G>T (p.Glu1023Ter) n.4214G>T | ClinVar |
18 | g.45910594C>G | CA402339997 | EPG5 | n.2316G>C c.4132G>C (p.Glu1378Gln) c.3872G>C (n.3872G>C) n.911G>C c.757G>C (p.Glu253Gln) n.4167G>C c.4159G>C (p.Glu1387Gln) c.4018G>C (p.Glu1340Gln) c.3094G>C (p.Glu1032Gln) n.4232G>C c.3991G>C (p.Glu1331Gln) c.3067G>C (p.Glu1023Gln) n.4214G>C | |
18 | g.45910594C>T | CA402339999 | EPG5 | n.2316G>A c.4132G>A (p.Glu1378Lys) c.3872G>A (n.3872G>A) n.911G>A c.757G>A (p.Glu253Lys) n.4167G>A c.4159G>A (p.Glu1387Lys) c.4018G>A (p.Glu1340Lys) c.3094G>A (p.Glu1032Lys) n.4232G>A c.3991G>A (p.Glu1331Lys) c.3067G>A (p.Glu1023Lys) n.4214G>A | |
18 | g.45910595A>C | CA402340001 | EPG5 | n.2315T>G c.4131T>G (p.Ser1377Arg) c.3871T>G (n.3871T>G) n.910T>G c.756T>G (p.Ser252Arg) n.4166T>G c.4158T>G (p.Ser1386Arg) c.4017T>G (p.Ser1339Arg) c.3093T>G (p.Ser1031Arg) n.4231T>G c.3990T>G (p.Ser1330Arg) c.3066T>G (p.Ser1022Arg) n.4213T>G | |
18 | g.45910595A>G | CA503793703 | EPG5 | n.2315T>C c.4131T>C (p.Ser1377=) c.3871T>C (n.3871T>C) n.910T>C c.756T>C (p.Ser252=) n.4166T>C c.4158T>C (p.Ser1386=) c.4017T>C (p.Ser1339=) c.3093T>C (p.Ser1031=) n.4231T>C c.3990T>C (p.Ser1330=) c.3066T>C (p.Ser1022=) n.4213T>C | |
18 | g.45910595A>T | CA402340003 | EPG5 | n.2315T>A c.4131T>A (p.Ser1377Arg) c.3871T>A (n.3871T>A) n.910T>A c.756T>A (p.Ser252Arg) n.4166T>A c.4158T>A (p.Ser1386Arg) c.4017T>A (p.Ser1339Arg) c.3093T>A (p.Ser1031Arg) n.4231T>A c.3990T>A (p.Ser1330Arg) c.3066T>A (p.Ser1022Arg) n.4213T>A | |
18 | g.45910596C>A | CA402340005 | EPG5 | n.2314G>T c.4130G>T (p.Ser1377Ile) c.3870G>T (n.3870G>T) n.909G>T c.755G>T (p.Ser252Ile) n.4165G>T c.4157G>T (p.Ser1386Ile) c.4016G>T (p.Ser1339Ile) c.3092G>T (p.Ser1031Ile) n.4230G>T c.3989G>T (p.Ser1330Ile) c.3065G>T (p.Ser1022Ile) n.4212G>T | |
18 | g.45910596C= | CA2300590871 | EPG5 | n.2314G= c.4130G= (p.Ser1377=) c.3870G= (n.3870G=) n.909G= c.755G= (p.Ser252=) n.4165G= c.4157G= (p.Ser1386=) c.4016G= (p.Ser1339=) c.3092G= (p.Ser1031=) n.4230G= c.3989G= (p.Ser1330=) c.3065G= (p.Ser1022=) n.4212G= | |
18 | g.45910596C>G | CA402340007 | EPG5 | n.2314G>C c.4130G>C (p.Ser1377Thr) c.3870G>C (n.3870G>C) n.909G>C c.755G>C (p.Ser252Thr) n.4165G>C c.4157G>C (p.Ser1386Thr) c.4016G>C (p.Ser1339Thr) c.3092G>C (p.Ser1031Thr) n.4230G>C c.3989G>C (p.Ser1330Thr) c.3065G>C (p.Ser1022Thr) n.4212G>C | ClinVar dbSNP |
18 | g.45910596C>T | CA402340009 | EPG5 | n.2314G>A c.4130G>A (p.Ser1377Asn) c.3870G>A (n.3870G>A) n.909G>A c.755G>A (p.Ser252Asn) n.4165G>A c.4157G>A (p.Ser1386Asn) c.4016G>A (p.Ser1339Asn) c.3092G>A (p.Ser1031Asn) n.4230G>A c.3989G>A (p.Ser1330Asn) c.3065G>A (p.Ser1022Asn) n.4212G>A | |
18 | g.45910597T>A | CA8948979 | EPG5 | n.2313A>T c.4129A>T (p.Ser1377Cys) c.3869A>T (n.3869A>T) n.908A>T c.754A>T (p.Ser252Cys) n.4164A>T c.4156A>T (p.Ser1386Cys) c.4015A>T (p.Ser1339Cys) c.3091A>T (p.Ser1031Cys) n.4229A>T c.3988A>T (p.Ser1330Cys) c.3064A>T (p.Ser1022Cys) n.4211A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.45910597T>C | CA402340013 | EPG5 | n.2313A>G c.4129A>G (p.Ser1377Gly) c.3869A>G (n.3869A>G) n.908A>G c.754A>G (p.Ser252Gly) n.4164A>G c.4156A>G (p.Ser1386Gly) c.4015A>G (p.Ser1339Gly) c.3091A>G (p.Ser1031Gly) n.4229A>G c.3988A>G (p.Ser1330Gly) c.3064A>G (p.Ser1022Gly) n.4211A>G | |
18 | g.45910597T>G | CA402340011 | EPG5 | n.2313A>C c.4129A>C (p.Ser1377Arg) c.3869A>C (n.3869A>C) n.908A>C c.754A>C (p.Ser252Arg) n.4164A>C c.4156A>C (p.Ser1386Arg) c.4015A>C (p.Ser1339Arg) c.3091A>C (p.Ser1031Arg) n.4229A>C c.3988A>C (p.Ser1330Arg) c.3064A>C (p.Ser1022Arg) n.4211A>C | |
18 | g.45910597T= | CA2300590872 | EPG5 | n.2313A= c.4129A= (p.Ser1377=) c.3869A= (n.3869A=) n.908A= c.754A= (p.Ser252=) n.4164A= c.4156A= (p.Ser1386=) c.4015A= (p.Ser1339=) c.3091A= (p.Ser1031=) n.4229A= c.3988A= (p.Ser1330=) c.3064A= (p.Ser1022=) n.4211A= | |
18 | g.45910598G>A | CA299760394 | EPG5 | n.2312C>T c.4128C>T (p.Gly1376=) c.3868C>T (n.3868C>T) n.907C>T c.753C>T (p.Gly251=) n.4163C>T c.4155C>T (p.Gly1385=) c.4014C>T (p.Gly1338=) c.3090C>T (p.Gly1030=) n.4228C>T c.3987C>T (p.Gly1329=) c.3063C>T (p.Gly1021=) n.4210C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.45910598G>C | CA503793704 | EPG5 | n.2312C>G c.4128C>G (p.Gly1376=) c.3868C>G (n.3868C>G) n.907C>G c.753C>G (p.Gly251=) n.4163C>G c.4155C>G (p.Gly1385=) c.4014C>G (p.Gly1338=) c.3090C>G (p.Gly1030=) n.4228C>G c.3987C>G (p.Gly1329=) c.3063C>G (p.Gly1021=) n.4210C>G | |
18 | g.45910598G= | CA2300590873 | EPG5 | n.2312C= c.4128C= (p.Gly1376=) c.3868C= (n.3868C=) n.907C= c.753C= (p.Gly251=) n.4163C= c.4155C= (p.Gly1385=) c.4014C= (p.Gly1338=) c.3090C= (p.Gly1030=) n.4228C= c.3987C= (p.Gly1329=) c.3063C= (p.Gly1021=) n.4210C= | |
18 | g.45910598G>T | CA503793706 | EPG5 | n.2312C>A c.4128C>A (p.Gly1376=) c.3868C>A (n.3868C>A) n.907C>A c.753C>A (p.Gly251=) n.4163C>A c.4155C>A (p.Gly1385=) c.4014C>A (p.Gly1338=) c.3090C>A (p.Gly1030=) n.4228C>A c.3987C>A (p.Gly1329=) c.3063C>A (p.Gly1021=) n.4210C>A | |
18 | g.45910599C>A | CA402340016 | EPG5 | n.2311G>T c.4127G>T (p.Gly1376Val) c.3867G>T (n.3867G>T) n.906G>T c.752G>T (p.Gly251Val) n.4162G>T c.4154G>T (p.Gly1385Val) c.4013G>T (p.Gly1338Val) c.3089G>T (p.Gly1030Val) n.4227G>T c.3986G>T (p.Gly1329Val) c.3062G>T (p.Gly1021Val) n.4209G>T | gnomAD v4 |
18 | g.45910599C>G | CA402340017 | EPG5 | n.2311G>C c.4127G>C (p.Gly1376Ala) c.3867G>C (n.3867G>C) n.906G>C c.752G>C (p.Gly251Ala) n.4162G>C c.4154G>C (p.Gly1385Ala) c.4013G>C (p.Gly1338Ala) c.3089G>C (p.Gly1030Ala) n.4227G>C c.3986G>C (p.Gly1329Ala) c.3062G>C (p.Gly1021Ala) n.4209G>C | |
18 | g.45910599C>T | CA402340018 | EPG5 | n.2311G>A c.4127G>A (p.Gly1376Asp) c.3867G>A (n.3867G>A) n.906G>A c.752G>A (p.Gly251Asp) n.4162G>A c.4154G>A (p.Gly1385Asp) c.4013G>A (p.Gly1338Asp) c.3089G>A (p.Gly1030Asp) n.4227G>A c.3986G>A (p.Gly1329Asp) c.3062G>A (p.Gly1021Asp) n.4209G>A | |
18 | g.45910600C>A | CA402340019 | EPG5 | n.2310G>T c.4126G>T (p.Gly1376Cys) c.3866G>T (n.3866G>T) n.905G>T c.751G>T (p.Gly251Cys) n.4161G>T c.4153G>T (p.Gly1385Cys) c.4012G>T (p.Gly1338Cys) c.3088G>T (p.Gly1030Cys) n.4226G>T c.3985G>T (p.Gly1329Cys) c.3061G>T (p.Gly1021Cys) n.4208G>T | |
18 | g.45910600C>G | CA402340020 | EPG5 | n.2310G>C c.4126G>C (p.Gly1376Arg) c.3866G>C (n.3866G>C) n.905G>C c.751G>C (p.Gly251Arg) n.4161G>C c.4153G>C (p.Gly1385Arg) c.4012G>C (p.Gly1338Arg) c.3088G>C (p.Gly1030Arg) n.4226G>C c.3985G>C (p.Gly1329Arg) c.3061G>C (p.Gly1021Arg) n.4208G>C | |
18 | g.45910600C>T | CA402340021 | EPG5 | n.2310G>A c.4126G>A (p.Gly1376Ser) c.3866G>A (n.3866G>A) n.905G>A c.751G>A (p.Gly251Ser) n.4161G>A c.4153G>A (p.Gly1385Ser) c.4012G>A (p.Gly1338Ser) c.3088G>A (p.Gly1030Ser) n.4226G>A c.3985G>A (p.Gly1329Ser) c.3061G>A (p.Gly1021Ser) n.4208G>A | |
18 | g.45910601C>A | CA402340022 | EPG5 | n.2309G>T c.4125G>T (p.Glu1375Asp) c.3865G>T (n.3865G>T) n.904G>T c.750G>T (p.Glu250Asp) n.4160G>T c.4152G>T (p.Glu1384Asp) c.4011G>T (p.Glu1337Asp) c.3087G>T (p.Glu1029Asp) n.4225G>T c.3984G>T (p.Glu1328Asp) c.3060G>T (p.Glu1020Asp) n.4207G>T | |
18 | g.45910601C>G | CA402340023 | EPG5 | n.2309G>C c.4125G>C (p.Glu1375Asp) c.3865G>C (n.3865G>C) n.904G>C c.750G>C (p.Glu250Asp) n.4160G>C c.4152G>C (p.Glu1384Asp) c.4011G>C (p.Glu1337Asp) c.3087G>C (p.Glu1029Asp) n.4225G>C c.3984G>C (p.Glu1328Asp) c.3060G>C (p.Glu1020Asp) n.4207G>C | |
18 | g.45910601C>T | CA503793707 | EPG5 | n.2309G>A c.4125G>A (p.Glu1375=) c.3865G>A (n.3865G>A) n.904G>A c.750G>A (p.Glu250=) n.4160G>A c.4152G>A (p.Glu1384=) c.4011G>A (p.Glu1337=) c.3087G>A (p.Glu1029=) n.4225G>A c.3984G>A (p.Glu1328=) c.3060G>A (p.Glu1020=) n.4207G>A | ClinVar gnomAD v4 |
18 | g.45910602T>A | CA402340024 | EPG5 | n.2308A>T c.4124A>T (p.Glu1375Val) c.3864A>T (n.3864A>T) n.903A>T c.749A>T (p.Glu250Val) n.4159A>T c.4151A>T (p.Glu1384Val) c.4010A>T (p.Glu1337Val) c.3086A>T (p.Glu1029Val) n.4224A>T c.3983A>T (p.Glu1328Val) c.3059A>T (p.Glu1020Val) n.4206A>T | |
18 | g.45910602T>C | CA402340025 | EPG5 | n.2308A>G c.4124A>G (p.Glu1375Gly) c.3864A>G (n.3864A>G) n.903A>G c.749A>G (p.Glu250Gly) n.4159A>G c.4151A>G (p.Glu1384Gly) c.4010A>G (p.Glu1337Gly) c.3086A>G (p.Glu1029Gly) n.4224A>G c.3983A>G (p.Glu1328Gly) c.3059A>G (p.Glu1020Gly) n.4206A>G | |
18 | g.45910602T>G | CA402340026 | EPG5 | n.2308A>C c.4124A>C (p.Glu1375Ala) c.3864A>C (n.3864A>C) n.903A>C c.749A>C (p.Glu250Ala) n.4159A>C c.4151A>C (p.Glu1384Ala) c.4010A>C (p.Glu1337Ala) c.3086A>C (p.Glu1029Ala) n.4224A>C c.3983A>C (p.Glu1328Ala) c.3059A>C (p.Glu1020Ala) n.4206A>C | |
18 | g.45910603C>A | CA402340027 | EPG5 | n.2307G>T c.4123G>T (p.Glu1375Ter) c.3863G>T (n.3863G>T) n.902G>T c.748G>T (p.Glu250Ter) n.4158G>T c.4150G>T (p.Glu1384Ter) c.4009G>T (p.Glu1337Ter) c.3085G>T (p.Glu1029Ter) n.4223G>T c.3982G>T (p.Glu1328Ter) c.3058G>T (p.Glu1020Ter) n.4205G>T | |
18 | g.45910603C>G | CA402340028 | EPG5 | n.2307G>C c.4123G>C (p.Glu1375Gln) c.3863G>C (n.3863G>C) n.902G>C c.748G>C (p.Glu250Gln) n.4158G>C c.4150G>C (p.Glu1384Gln) c.4009G>C (p.Glu1337Gln) c.3085G>C (p.Glu1029Gln) n.4223G>C c.3982G>C (p.Glu1328Gln) c.3058G>C (p.Glu1020Gln) n.4205G>C | |
18 | g.45910603C>T | CA402340029 | EPG5 | n.2307G>A c.4123G>A (p.Glu1375Lys) c.3863G>A (n.3863G>A) n.902G>A c.748G>A (p.Glu250Lys) n.4158G>A c.4150G>A (p.Glu1384Lys) c.4009G>A (p.Glu1337Lys) c.3085G>A (p.Glu1029Lys) n.4223G>A c.3982G>A (p.Glu1328Lys) c.3058G>A (p.Glu1020Lys) n.4205G>A | |
18 | g.45910604T>A | CA503793711 | EPG5 | n.2306A>T c.4122A>T (p.Ala1374=) c.3862A>T (n.3862A>T) n.901A>T c.747A>T (p.Ala249=) n.4157A>T c.4149A>T (p.Ala1383=) c.4008A>T (p.Ala1336=) c.3084A>T (p.Ala1028=) n.4222A>T c.3981A>T (p.Ala1327=) c.3057A>T (p.Ala1019=) n.4204A>T | gnomAD v4 |
18 | g.45910604T>C | CA503793712 | EPG5 | n.2306A>G c.4122A>G (p.Ala1374=) c.3862A>G (n.3862A>G) n.901A>G c.747A>G (p.Ala249=) n.4157A>G c.4149A>G (p.Ala1383=) c.4008A>G (p.Ala1336=) c.3084A>G (p.Ala1028=) n.4222A>G c.3981A>G (p.Ala1327=) c.3057A>G (p.Ala1019=) n.4204A>G | |
18 | g.45910604T>G | CA503793713 | EPG5 | n.2306A>C c.4122A>C (p.Ala1374=) c.3862A>C (n.3862A>C) n.901A>C c.747A>C (p.Ala249=) n.4157A>C c.4149A>C (p.Ala1383=) c.4008A>C (p.Ala1336=) c.3084A>C (p.Ala1028=) n.4222A>C c.3981A>C (p.Ala1327=) c.3057A>C (p.Ala1019=) n.4204A>C | |
18 | g.45910605G>A | CA402340031 | EPG5 | n.2305C>T c.4121C>T (p.Ala1374Val) c.3861C>T (n.3861C>T) n.900C>T c.746C>T (p.Ala249Val) n.4156C>T c.4148C>T (p.Ala1383Val) c.4007C>T (p.Ala1336Val) c.3083C>T (p.Ala1028Val) n.4221C>T c.3980C>T (p.Ala1327Val) c.3056C>T (p.Ala1019Val) n.4203C>T | |
18 | g.45910605G>C | CA402340032 | EPG5 | n.2305C>G c.4121C>G (p.Ala1374Gly) c.3861C>G (n.3861C>G) n.900C>G c.746C>G (p.Ala249Gly) n.4156C>G c.4148C>G (p.Ala1383Gly) c.4007C>G (p.Ala1336Gly) c.3083C>G (p.Ala1028Gly) n.4221C>G c.3980C>G (p.Ala1327Gly) c.3056C>G (p.Ala1019Gly) n.4203C>G | |
18 | g.45910605G>T | CA402340030 | EPG5 | n.2305C>A c.4121C>A (p.Ala1374Glu) c.3861C>A (n.3861C>A) n.900C>A c.746C>A (p.Ala249Glu) n.4156C>A c.4148C>A (p.Ala1383Glu) c.4007C>A (p.Ala1336Glu) c.3083C>A (p.Ala1028Glu) n.4221C>A c.3980C>A (p.Ala1327Glu) c.3056C>A (p.Ala1019Glu) n.4203C>A | |
18 | g.45910606C>A | CA402340033 | EPG5 | n.2304G>T c.4120G>T (p.Ala1374Ser) c.3860G>T (n.3860G>T) n.899G>T c.745G>T (p.Ala249Ser) n.4155G>T c.4147G>T (p.Ala1383Ser) c.4006G>T (p.Ala1336Ser) c.3082G>T (p.Ala1028Ser) n.4220G>T c.3979G>T (p.Ala1327Ser) c.3055G>T (p.Ala1019Ser) n.4202G>T | |
18 | g.45910606C>G | CA402340034 | EPG5 | n.2304G>C c.4120G>C (p.Ala1374Pro) c.3860G>C (n.3860G>C) n.899G>C c.745G>C (p.Ala249Pro) n.4155G>C c.4147G>C (p.Ala1383Pro) c.4006G>C (p.Ala1336Pro) c.3082G>C (p.Ala1028Pro) n.4220G>C c.3979G>C (p.Ala1327Pro) c.3055G>C (p.Ala1019Pro) n.4202G>C | |
18 | g.45910606C>T | CA402340035 | EPG5 | n.2304G>A c.4120G>A (p.Ala1374Thr) c.3860G>A (n.3860G>A) n.899G>A c.745G>A (p.Ala249Thr) n.4155G>A c.4147G>A (p.Ala1383Thr) c.4006G>A (p.Ala1336Thr) c.3082G>A (p.Ala1028Thr) n.4220G>A c.3979G>A (p.Ala1327Thr) c.3055G>A (p.Ala1019Thr) n.4202G>A | |
18 | g.45910607T>A | CA503793717 | EPG5 | n.2303A>T c.4119A>T (p.Pro1373=) c.3859A>T (n.3859A>T) n.898A>T c.744A>T (p.Pro248=) n.4154A>T c.4146A>T (p.Pro1382=) c.4005A>T (p.Pro1335=) c.3081A>T (p.Pro1027=) n.4219A>T c.3978A>T (p.Pro1326=) c.3054A>T (p.Pro1018=) n.4201A>T | |
18 | g.45910607T>C | CA503793720 | EPG5 | n.2303A>G c.4119A>G (p.Pro1373=) c.3859A>G (n.3859A>G) n.898A>G c.744A>G (p.Pro248=) n.4154A>G c.4146A>G (p.Pro1382=) c.4005A>G (p.Pro1335=) c.3081A>G (p.Pro1027=) n.4219A>G c.3978A>G (p.Pro1326=) c.3054A>G (p.Pro1018=) n.4201A>G | dbSNP |
18 | g.45910607T>G | CA503793718 | EPG5 | n.2303A>C c.4119A>C (p.Pro1373=) c.3859A>C (n.3859A>C) n.898A>C c.744A>C (p.Pro248=) n.4154A>C c.4146A>C (p.Pro1382=) c.4005A>C (p.Pro1335=) c.3081A>C (p.Pro1027=) n.4219A>C c.3978A>C (p.Pro1326=) c.3054A>C (p.Pro1018=) n.4201A>C | |
18 | g.45910607T= | CA2300590874 | EPG5 | n.2303A= c.4119A= (p.Pro1373=) c.3859A= (n.3859A=) n.898A= c.744A= (p.Pro248=) n.4154A= c.4146A= (p.Pro1382=) c.4005A= (p.Pro1335=) c.3081A= (p.Pro1027=) n.4219A= c.3978A= (p.Pro1326=) c.3054A= (p.Pro1018=) n.4201A= | |
18 | g.45910608G>A | CA402340036 | EPG5 | n.2302C>T c.4118C>T (p.Pro1373Leu) c.3858C>T (n.3858C>T) n.897C>T c.743C>T (p.Pro248Leu) n.4153C>T c.4145C>T (p.Pro1382Leu) c.4004C>T (p.Pro1335Leu) c.3080C>T (p.Pro1027Leu) n.4218C>T c.3977C>T (p.Pro1326Leu) c.3053C>T (p.Pro1018Leu) n.4200C>T | gnomAD v4 |
18 | g.45910608G>C | CA402340037 | EPG5 | n.2302C>G c.4118C>G (p.Pro1373Arg) c.3858C>G (n.3858C>G) n.897C>G c.743C>G (p.Pro248Arg) n.4153C>G c.4145C>G (p.Pro1382Arg) c.4004C>G (p.Pro1335Arg) c.3080C>G (p.Pro1027Arg) n.4218C>G c.3977C>G (p.Pro1326Arg) c.3053C>G (p.Pro1018Arg) n.4200C>G | |
18 | g.45910608G>T | CA402340038 | EPG5 | n.2302C>A c.4118C>A (p.Pro1373Gln) c.3858C>A (n.3858C>A) n.897C>A c.743C>A (p.Pro248Gln) n.4153C>A c.4145C>A (p.Pro1382Gln) c.4004C>A (p.Pro1335Gln) c.3080C>A (p.Pro1027Gln) n.4218C>A c.3977C>A (p.Pro1326Gln) c.3053C>A (p.Pro1018Gln) n.4200C>A | |
18 | g.45910609G>A | CA402340039 | EPG5 | n.2301C>T c.4117C>T (p.Pro1373Ser) c.3857C>T (n.3857C>T) n.896C>T c.742C>T (p.Pro248Ser) n.4152C>T c.4144C>T (p.Pro1382Ser) c.4003C>T (p.Pro1335Ser) c.3079C>T (p.Pro1027Ser) n.4217C>T c.3976C>T (p.Pro1326Ser) c.3052C>T (p.Pro1018Ser) n.4199C>T | |
18 | g.45910609G>C | CA402340040 | EPG5 | n.2301C>G c.4117C>G (p.Pro1373Ala) c.3857C>G (n.3857C>G) n.896C>G c.742C>G (p.Pro248Ala) n.4152C>G c.4144C>G (p.Pro1382Ala) c.4003C>G (p.Pro1335Ala) c.3079C>G (p.Pro1027Ala) n.4217C>G c.3976C>G (p.Pro1326Ala) c.3052C>G (p.Pro1018Ala) n.4199C>G | |
18 | g.45910609G>T | CA402340041 | EPG5 | n.2301C>A c.4117C>A (p.Pro1373Thr) c.3857C>A (n.3857C>A) n.896C>A c.742C>A (p.Pro248Thr) n.4152C>A c.4144C>A (p.Pro1382Thr) c.4003C>A (p.Pro1335Thr) c.3079C>A (p.Pro1027Thr) n.4217C>A c.3976C>A (p.Pro1326Thr) c.3052C>A (p.Pro1018Thr) n.4199C>A | gnomAD v4 |
18 | g.45910610A>C | CA503793723 | EPG5 | n.2300T>G c.4116T>G (p.Val1372=) c.3856T>G (n.3856T>G) n.895T>G c.741T>G (p.Val247=) n.4151T>G c.4143T>G (p.Val1381=) c.4002T>G (p.Val1334=) c.3078T>G (p.Val1026=) n.4216T>G c.3975T>G (p.Val1325=) c.3051T>G (p.Val1017=) n.4198T>G | |
18 | g.45910610A>G | CA503793724 | EPG5 | n.2300T>C c.4116T>C (p.Val1372=) c.3856T>C (n.3856T>C) n.895T>C c.741T>C (p.Val247=) n.4151T>C c.4143T>C (p.Val1381=) c.4002T>C (p.Val1334=) c.3078T>C (p.Val1026=) n.4216T>C c.3975T>C (p.Val1325=) c.3051T>C (p.Val1017=) n.4198T>C | |
18 | g.45910610A>T | CA503793725 | EPG5 | n.2300T>A c.4116T>A (p.Val1372=) c.3856T>A (n.3856T>A) n.895T>A c.741T>A (p.Val247=) n.4151T>A c.4143T>A (p.Val1381=) c.4002T>A (p.Val1334=) c.3078T>A (p.Val1026=) n.4216T>A c.3975T>A (p.Val1325=) c.3051T>A (p.Val1017=) n.4198T>A | |
18 | g.45910611A>C | CA402340042 | EPG5 | n.2299T>G c.4115T>G (p.Val1372Gly) c.3855T>G (n.3855T>G) n.894T>G c.740T>G (p.Val247Gly) n.4150T>G c.4142T>G (p.Val1381Gly) c.4001T>G (p.Val1334Gly) c.3077T>G (p.Val1026Gly) n.4215T>G c.3974T>G (p.Val1325Gly) c.3050T>G (p.Val1017Gly) n.4197T>G | |
18 | g.45910611A>G | CA402340043 | EPG5 | n.2299T>C c.4115T>C (p.Val1372Ala) c.3855T>C (n.3855T>C) n.894T>C c.740T>C (p.Val247Ala) n.4150T>C c.4142T>C (p.Val1381Ala) c.4001T>C (p.Val1334Ala) c.3077T>C (p.Val1026Ala) n.4215T>C c.3974T>C (p.Val1325Ala) c.3050T>C (p.Val1017Ala) n.4197T>C | |
18 | g.45910611A>T | CA402340044 | EPG5 | n.2299T>A c.4115T>A (p.Val1372Asp) c.3855T>A (n.3855T>A) n.894T>A c.740T>A (p.Val247Asp) n.4150T>A c.4142T>A (p.Val1381Asp) c.4001T>A (p.Val1334Asp) c.3077T>A (p.Val1026Asp) n.4215T>A c.3974T>A (p.Val1325Asp) c.3050T>A (p.Val1017Asp) n.4197T>A | gnomAD v4 |
18 | g.45910612_45910617del | CA2812342750 | EPG5 | n.2294_2299del c.4110_4115del (p.Arg1371_Val1372del) c.3850_3855del (n.3850_3855del) n.889_894del c.735_740del (p.Arg246_Val247del) n.4145_4150del c.4137_4142del (p.Arg1380_Val1381del) c.3996_4001del (p.Arg1333_Val1334del) c.3072_3077del (p.Arg1025_Val1026del) n.4210_4215del c.3969_3974del (p.Arg1324_Val1325del) c.3045_3050del (p.Arg1016_Val1017del) n.4192_4197del | |
18 | g.45910612C>A | CA402340047 | EPG5 | n.2298G>T c.4114G>T (p.Val1372Phe) c.3854G>T (n.3854G>T) n.893G>T c.739G>T (p.Val247Phe) n.4149G>T c.4141G>T (p.Val1381Phe) c.4000G>T (p.Val1334Phe) c.3076G>T (p.Val1026Phe) n.4214G>T c.3973G>T (p.Val1325Phe) c.3049G>T (p.Val1017Phe) n.4196G>T | |
18 | g.45910612C>G | CA402340046 | EPG5 | n.2298G>C c.4114G>C (p.Val1372Leu) c.3854G>C (n.3854G>C) n.893G>C c.739G>C (p.Val247Leu) n.4149G>C c.4141G>C (p.Val1381Leu) c.4000G>C (p.Val1334Leu) c.3076G>C (p.Val1026Leu) n.4214G>C c.3973G>C (p.Val1325Leu) c.3049G>C (p.Val1017Leu) n.4196G>C | |
18 | g.45910612C>T | CA402340045 | EPG5 | n.2298G>A c.4114G>A (p.Val1372Ile) c.3854G>A (n.3854G>A) n.893G>A c.739G>A (p.Val247Ile) n.4149G>A c.4141G>A (p.Val1381Ile) c.4000G>A (p.Val1334Ile) c.3076G>A (p.Val1026Ile) n.4214G>A c.3973G>A (p.Val1325Ile) c.3049G>A (p.Val1017Ile) n.4196G>A | |
18 | g.45910613A>C | CA503793728 | EPG5 | n.2297T>G c.4113T>G (p.Arg1371=) c.3853T>G (n.3853T>G) n.892T>G c.738T>G (p.Arg246=) n.4148T>G c.4140T>G (p.Arg1380=) c.3999T>G (p.Arg1333=) c.3075T>G (p.Arg1025=) n.4213T>G c.3972T>G (p.Arg1324=) c.3048T>G (p.Arg1016=) n.4195T>G | |
18 | g.45910613A>G | CA503793730 | EPG5 | n.2297T>C c.4113T>C (p.Arg1371=) c.3853T>C (n.3853T>C) n.892T>C c.738T>C (p.Arg246=) n.4148T>C c.4140T>C (p.Arg1380=) c.3999T>C (p.Arg1333=) c.3075T>C (p.Arg1025=) n.4213T>C c.3972T>C (p.Arg1324=) c.3048T>C (p.Arg1016=) n.4195T>C | |
18 | g.45910613A>T | CA503793731 | EPG5 | n.2297T>A c.4113T>A (p.Arg1371=) c.3853T>A (n.3853T>A) n.892T>A c.738T>A (p.Arg246=) n.4148T>A c.4140T>A (p.Arg1380=) c.3999T>A (p.Arg1333=) c.3075T>A (p.Arg1025=) n.4213T>A c.3972T>A (p.Arg1324=) c.3048T>A (p.Arg1016=) n.4195T>A | |
18 | g.45910614C>A | CA402340048 | EPG5 | n.2296G>T c.4112G>T (p.Arg1371Leu) c.3852G>T (n.3852G>T) n.891G>T c.737G>T (p.Arg246Leu) n.4147G>T c.4139G>T (p.Arg1380Leu) c.3998G>T (p.Arg1333Leu) c.3074G>T (p.Arg1025Leu) n.4212G>T c.3971G>T (p.Arg1324Leu) c.3047G>T (p.Arg1016Leu) n.4194G>T | |
18 | g.45910614C= | CA2300590875 | EPG5 | n.2296G= c.4112G= (p.Arg1371=) c.3852G= (n.3852G=) n.891G= c.737G= (p.Arg246=) n.4147G= c.4139G= (p.Arg1380=) c.3998G= (p.Arg1333=) c.3074G= (p.Arg1025=) n.4212G= c.3971G= (p.Arg1324=) c.3047G= (p.Arg1016=) n.4194G= | |
18 | g.45910614C>G | CA8948980 | EPG5 | n.2296G>C c.4112G>C (p.Arg1371Pro) c.3852G>C (n.3852G>C) n.891G>C c.737G>C (p.Arg246Pro) n.4147G>C c.4139G>C (p.Arg1380Pro) c.3998G>C (p.Arg1333Pro) c.3074G>C (p.Arg1025Pro) n.4212G>C c.3971G>C (p.Arg1324Pro) c.3047G>C (p.Arg1016Pro) n.4194G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.45910614C>T | CA402340049 | EPG5 | n.2296G>A c.4112G>A (p.Arg1371His) c.3852G>A (n.3852G>A) n.891G>A c.737G>A (p.Arg246His) n.4147G>A c.4139G>A (p.Arg1380His) c.3998G>A (p.Arg1333His) c.3074G>A (p.Arg1025His) n.4212G>A c.3971G>A (p.Arg1324His) c.3047G>A (p.Arg1016His) n.4194G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.45910615G>A | CA8948981 | EPG5 | n.2295C>T c.4111C>T (p.Arg1371Cys) c.3851C>T (n.3851C>T) n.890C>T c.736C>T (p.Arg246Cys) n.4146C>T c.4138C>T (p.Arg1380Cys) c.3997C>T (p.Arg1333Cys) c.3073C>T (p.Arg1025Cys) n.4211C>T c.3970C>T (p.Arg1324Cys) c.3046C>T (p.Arg1016Cys) n.4193C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
18 | g.45910615G>C | CA402340050 | EPG5 | n.2295C>G c.4111C>G (p.Arg1371Gly) c.3851C>G (n.3851C>G) n.890C>G c.736C>G (p.Arg246Gly) n.4146C>G c.4138C>G (p.Arg1380Gly) c.3997C>G (p.Arg1333Gly) c.3073C>G (p.Arg1025Gly) n.4211C>G c.3970C>G (p.Arg1324Gly) c.3046C>G (p.Arg1016Gly) n.4193C>G | |
18 | g.45910615G= | CA2300590876 | EPG5 | n.2295C= c.4111C= (p.Arg1371=) c.3851C= (n.3851C=) n.890C= c.736C= (p.Arg246=) n.4146C= c.4138C= (p.Arg1380=) c.3997C= (p.Arg1333=) c.3073C= (p.Arg1025=) n.4211C= c.3970C= (p.Arg1324=) c.3046C= (p.Arg1016=) n.4193C= | |
18 | g.45910615G>T | CA402340051 | EPG5 | n.2295C>A c.4111C>A (p.Arg1371Ser) c.3851C>A (n.3851C>A) n.890C>A c.736C>A (p.Arg246Ser) n.4146C>A c.4138C>A (p.Arg1380Ser) c.3997C>A (p.Arg1333Ser) c.3073C>A (p.Arg1025Ser) n.4211C>A c.3970C>A (p.Arg1324Ser) c.3046C>A (p.Arg1016Ser) n.4193C>A | |
18 | g.45910615_45910616del | CA2641629262 | EPG5 | n.2294_2295del c.4110_4111del (p.Arg1371CysfsTer7) c.3850_3851del (n.3850_3851del) n.889_890del c.735_736del (p.Arg246CysfsTer7) n.4145_4146del c.4137_4138del (p.Arg1380CysfsTer7) c.3996_3997del (p.Arg1333CysfsTer7) c.3072_3073del (p.Arg1025CysfsTer7) n.4210_4211del c.3969_3970del (p.Arg1324CysfsTer7) c.3045_3046del (p.Arg1016CysfsTer7) n.4192_4193del | gnomAD v4 |