UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.244054627A>C | CA345673821 | ZBTB18 | c.*30A>C (n.*30A>C) c.826A>C (p.Lys276Gln) c.*783A>C (n.*783A>C) c.853A>C (p.Lys285Gln) | |
| 1 | g.244054627A>G | CA345673822 | ZBTB18 | c.*30A>G (n.*30A>G) c.826A>G (p.Lys276Glu) c.*783A>G (n.*783A>G) c.853A>G (p.Lys285Glu) | |
| 1 | g.244054627A>T | CA345673823 | ZBTB18 | c.*30A>T (n.*30A>T) c.826A>T (p.Lys276Ter) c.*783A>T (n.*783A>T) c.853A>T (p.Lys285Ter) | |
| 1 | g.244054628A>C | CA345673824 | ZBTB18 | c.*31A>C (n.*31A>C) c.827A>C (p.Lys276Thr) c.*784A>C (n.*784A>C) c.854A>C (p.Lys285Thr) | |
| 1 | g.244054628A>G | CA345673825 | ZBTB18 | c.*31A>G (n.*31A>G) c.827A>G (p.Lys276Arg) c.*784A>G (n.*784A>G) c.854A>G (p.Lys285Arg) | |
| 1 | g.244054628A>T | CA345673826 | ZBTB18 | c.*31A>T (n.*31A>T) c.827A>T (p.Lys276Ile) c.*784A>T (n.*784A>T) c.854A>T (p.Lys285Ile) | |
| 1 | g.244054629A= | CA1230659788 | ZBTB18 | c.*32A= (n.*32A=) c.828A= (p.Lys276=) c.*785A= (n.*785A=) c.855A= (p.Lys285=) | |
| 1 | g.244054629A>C | CA345673827 | ZBTB18 | c.*32A>C (n.*32A>C) c.828A>C (p.Lys276Asn) c.*785A>C (n.*785A>C) c.855A>C (p.Lys285Asn) | |
| 1 | g.244054629A>G | CA424410993 | ZBTB18 | c.*32A>G (n.*32A>G) c.828A>G (p.Lys276=) c.*785A>G (n.*785A>G) c.855A>G (p.Lys285=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.244054629A>T | CA345673828 | ZBTB18 | c.*32A>T (n.*32A>T) c.828A>T (p.Lys276Asn) c.*785A>T (n.*785A>T) c.855A>T (p.Lys285Asn) | |
| 1 | g.244054630G>A | CA345673829 | ZBTB18 | c.*33G>A (n.*33G>A) c.829G>A (p.Glu277Lys) c.*786G>A (n.*786G>A) c.856G>A (p.Glu286Lys) | |
| 1 | g.244054630G>C | CA345673831 | ZBTB18 | c.*33G>C (n.*33G>C) c.829G>C (p.Glu277Gln) c.*786G>C (n.*786G>C) c.856G>C (p.Glu286Gln) | |
| 1 | g.244054630G>T | CA345673830 | ZBTB18 | c.*33G>T (n.*33G>T) c.829G>T (p.Glu277Ter) c.*786G>T (n.*786G>T) c.856G>T (p.Glu286Ter) | |
| 1 | g.244054631A>C | CA345673832 | ZBTB18 | c.*34A>C (n.*34A>C) c.830A>C (p.Glu277Ala) c.*787A>C (n.*787A>C) c.857A>C (p.Glu286Ala) | |
| 1 | g.244054631A>G | CA345673833 | ZBTB18 | c.*34A>G (n.*34A>G) c.830A>G (p.Glu277Gly) c.*787A>G (n.*787A>G) c.857A>G (p.Glu286Gly) | |
| 1 | g.244054631A>T | CA345673834 | ZBTB18 | c.*34A>T (n.*34A>T) c.830A>T (p.Glu277Val) c.*787A>T (n.*787A>T) c.857A>T (p.Glu286Val) | |
| 1 | g.244054632G>A | CA424411002 | ZBTB18 | c.*35G>A (n.*35G>A) c.831G>A (p.Glu277=) c.*788G>A (n.*788G>A) c.858G>A (p.Glu286=) | |
| 1 | g.244054632G>C | CA345673835 | ZBTB18 | c.*35G>C (n.*35G>C) c.831G>C (p.Glu277Asp) c.*788G>C (n.*788G>C) c.858G>C (p.Glu286Asp) | |
| 1 | g.244054632G>T | CA345673836 | ZBTB18 | c.*35G>T (n.*35G>T) c.831G>T (p.Glu277Asp) c.*788G>T (n.*788G>T) c.858G>T (p.Glu286Asp) | |
| 1 | g.244054633G>A | CA345673839 | ZBTB18 | c.*36G>A (n.*36G>A) c.832G>A (p.Ala278Thr) c.*789G>A (n.*789G>A) c.859G>A (p.Ala287Thr) | ClinVar gnomAD v4 |
| 1 | g.244054633G>C | CA345673838 | ZBTB18 | c.*36G>C (n.*36G>C) c.832G>C (p.Ala278Pro) c.*789G>C (n.*789G>C) c.859G>C (p.Ala287Pro) | dbSNP |
| 1 | g.244054633G= | CA1230659789 | ZBTB18 | c.*36G= (n.*36G=) c.832G= (p.Ala278=) c.*789G= (n.*789G=) c.859G= (p.Ala287=) | |
| 1 | g.244054633G>T | CA345673837 | ZBTB18 | c.*36G>T (n.*36G>T) c.832G>T (p.Ala278Ser) c.*789G>T (n.*789G>T) c.859G>T (p.Ala287Ser) | |
| 1 | g.244054634C>A | CA345673840 | ZBTB18 | c.*37C>A (n.*37C>A) c.833C>A (p.Ala278Asp) c.*790C>A (n.*790C>A) c.860C>A (p.Ala287Asp) | |
| 1 | g.244054634C>G | CA345673841 | ZBTB18 | c.*37C>G (n.*37C>G) c.833C>G (p.Ala278Gly) c.*790C>G (n.*790C>G) c.860C>G (p.Ala287Gly) | |
| 1 | g.244054634C>T | CA345673842 | ZBTB18 | c.*37C>T (n.*37C>T) c.833C>T (p.Ala278Val) c.*790C>T (n.*790C>T) c.860C>T (p.Ala287Val) | |
| 1 | g.244054635T>A | CA424411009 | ZBTB18 | c.*38T>A (n.*38T>A) c.834T>A (p.Ala278=) c.*791T>A (n.*791T>A) c.861T>A (p.Ala287=) | |
| 1 | g.244054635T>C | CA424411010 | ZBTB18 | c.*38T>C (n.*38T>C) c.834T>C (p.Ala278=) c.*791T>C (n.*791T>C) c.861T>C (p.Ala287=) | |
| 1 | g.244054635T>G | CA424411011 | ZBTB18 | c.*38T>G (n.*38T>G) c.834T>G (p.Ala278=) c.*791T>G (n.*791T>G) c.861T>G (p.Ala287=) | COSMIC COSMIC |
| 1 | g.244054636T>A | CA345673843 | ZBTB18 | c.*39T>A (n.*39T>A) c.835T>A (p.Ser279Thr) c.*792T>A (n.*792T>A) c.862T>A (p.Ser288Thr) | |
| 1 | g.244054636T>C | CA345673844 | ZBTB18 | c.*39T>C (n.*39T>C) c.835T>C (p.Ser279Pro) c.*792T>C (n.*792T>C) c.862T>C (p.Ser288Pro) | |
| 1 | g.244054636T>G | CA345673845 | ZBTB18 | c.*39T>G (n.*39T>G) c.835T>G (p.Ser279Ala) c.*792T>G (n.*792T>G) c.862T>G (p.Ser288Ala) | |
| 1 | g.244054637C>A | CA345673846 | ZBTB18 | c.*40C>A (n.*40C>A) c.836C>A (p.Ser279Tyr) c.*793C>A (n.*793C>A) c.863C>A (p.Ser288Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.244054637C= | CA1230659790 | ZBTB18 | c.*40C= (n.*40C=) c.836C= (p.Ser279=) c.*793C= (n.*793C=) c.863C= (p.Ser288=) | |
| 1 | g.244054637C>G | CA345673848 | ZBTB18 | c.*40C>G (n.*40C>G) c.836C>G (p.Ser279Cys) c.*793C>G (n.*793C>G) c.863C>G (p.Ser288Cys) | COSMIC COSMIC |
| 1 | g.244054637C>T | CA345673847 | ZBTB18 | c.*40C>T (n.*40C>T) c.836C>T (p.Ser279Phe) c.*793C>T (n.*793C>T) c.863C>T (p.Ser288Phe) | gnomAD v4 |
| 1 | g.244054638C>A | CA424411023 | ZBTB18 | c.*41C>A (n.*41C>A) c.837C>A (p.Ser279=) c.*794C>A (n.*794C>A) c.864C>A (p.Ser288=) | |
| 1 | g.244054638C= | CA1143473895 | ZBTB18 | c.*41C= (n.*41C=) c.837C= (p.Ser279=) c.*794C= (n.*794C=) c.864C= (p.Ser288=) | |
| 1 | g.244054638C>G | CA424411022 | ZBTB18 | c.*41C>G (n.*41C>G) c.837C>G (p.Ser279=) c.*794C>G (n.*794C>G) c.864C>G (p.Ser288=) | |
| 1 | g.244054638C>T | CA41081520 | ZBTB18 | c.*41C>T (n.*41C>T) c.837C>T (p.Ser279=) c.*794C>T (n.*794C>T) c.864C>T (p.Ser288=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.244054639T>A | CA345673849 | ZBTB18 | c.*42T>A (n.*42T>A) c.838T>A (p.Cys280Ser) c.*795T>A (n.*795T>A) c.865T>A (p.Cys289Ser) | |
| 1 | g.244054639T>C | CA345673850 | ZBTB18 | c.*42T>C (n.*42T>C) c.838T>C (p.Cys280Arg) c.*795T>C (n.*795T>C) c.865T>C (p.Cys289Arg) | |
| 1 | g.244054639T>G | CA345673851 | ZBTB18 | c.*42T>G (n.*42T>G) c.838T>G (p.Cys280Gly) c.*795T>G (n.*795T>G) c.865T>G (p.Cys289Gly) | |
| 1 | g.244054640G>A | CA345673852 | ZBTB18 | c.*43G>A (n.*43G>A) c.839G>A (p.Cys280Tyr) c.*796G>A (n.*796G>A) c.866G>A (p.Cys289Tyr) | |
| 1 | g.244054640G>C | CA345673853 | ZBTB18 | c.*43G>C (n.*43G>C) c.839G>C (p.Cys280Ser) c.*796G>C (n.*796G>C) c.866G>C (p.Cys289Ser) | gnomAD v4 |
| 1 | g.244054640G>T | CA345673854 | ZBTB18 | c.*43G>T (n.*43G>T) c.839G>T (p.Cys280Phe) c.*796G>T (n.*796G>T) c.866G>T (p.Cys289Phe) | |
| 1 | g.244054641T>A | CA345673855 | ZBTB18 | c.*44T>A (n.*44T>A) c.840T>A (p.Cys280Ter) c.*797T>A (n.*797T>A) c.867T>A (p.Cys289Ter) | |
| 1 | g.244054641T>C | CA424411032 | ZBTB18 | c.*44T>C (n.*44T>C) c.840T>C (p.Cys280=) c.*797T>C (n.*797T>C) c.867T>C (p.Cys289=) | |
| 1 | g.244054641T>G | CA345673856 | ZBTB18 | c.*44T>G (n.*44T>G) c.840T>G (p.Cys280Trp) c.*797T>G (n.*797T>G) c.867T>G (p.Cys289Trp) | |
| 1 | g.244054642G>A | CA345673857 | ZBTB18 | c.*45G>A (n.*45G>A) c.841G>A (p.Asp281Asn) c.*798G>A (n.*798G>A) c.868G>A (p.Asp290Asn) | dbSNP gnomAD v4 |
| 1 | g.244054642G>C | CA345673858 | ZBTB18 | c.*45G>C (n.*45G>C) c.841G>C (p.Asp281His) c.*798G>C (n.*798G>C) c.868G>C (p.Asp290His) | |
| 1 | g.244054642G= | CA1230659791 | ZBTB18 | c.*45G= (n.*45G=) c.841G= (p.Asp281=) c.*798G= (n.*798G=) c.868G= (p.Asp290=) | |
| 1 | g.244054642G>T | CA345673859 | ZBTB18 | c.*45G>T (n.*45G>T) c.841G>T (p.Asp281Tyr) c.*798G>T (n.*798G>T) c.868G>T (p.Asp290Tyr) | |
| 1 | g.244054643A= | CA1230659792 | ZBTB18 | c.*46A= (n.*46A=) c.842A= (p.Asp281=) c.*799A= (n.*799A=) c.869A= (p.Asp290=) | |
| 1 | g.244054643A>C | CA345673861 | ZBTB18 | c.*46A>C (n.*46A>C) c.842A>C (p.Asp281Ala) c.*799A>C (n.*799A>C) c.869A>C (p.Asp290Ala) | |
| 1 | g.244054643A>G | CA345673862 | ZBTB18 | c.*46A>G (n.*46A>G) c.842A>G (p.Asp281Gly) c.*799A>G (n.*799A>G) c.869A>G (p.Asp290Gly) | dbSNP |
| 1 | g.244054643A>T | CA345673860 | ZBTB18 | c.*46A>T (n.*46A>T) c.842A>T (p.Asp281Val) c.*799A>T (n.*799A>T) c.869A>T (p.Asp290Val) | gnomAD v4 |
| 1 | g.244054644T>A | CA345673864 | ZBTB18 | c.*47T>A (n.*47T>A) c.843T>A (p.Asp281Glu) c.*800T>A (n.*800T>A) c.870T>A (p.Asp290Glu) | |
| 1 | g.244054644T>C | CA424411038 | ZBTB18 | c.*47T>C (n.*47T>C) c.843T>C (p.Asp281=) c.*800T>C (n.*800T>C) c.870T>C (p.Asp290=) | gnomAD v4 |
| 1 | g.244054644T>G | CA345673863 | ZBTB18 | c.*47T>G (n.*47T>G) c.843T>G (p.Asp281Glu) c.*800T>G (n.*800T>G) c.870T>G (p.Asp290Glu) | |
| 1 | g.244054645G>A | CA345673866 | ZBTB18 | c.*48G>A (n.*48G>A) c.844G>A (p.Glu282Lys) c.*801G>A (n.*801G>A) c.871G>A (p.Glu291Lys) | COSMIC COSMIC |
| 1 | g.244054645G>C | CA345673865 | ZBTB18 | c.*48G>C (n.*48G>C) c.844G>C (p.Glu282Gln) c.*801G>C (n.*801G>C) c.871G>C (p.Glu291Gln) | COSMIC COSMIC |
| 1 | g.244054645G>T | CA345673867 | ZBTB18 | c.*48G>T (n.*48G>T) c.844G>T (p.Glu282Ter) c.*801G>T (n.*801G>T) c.871G>T (p.Glu291Ter) | |
| 1 | g.244054646A>C | CA345673868 | ZBTB18 | c.*49A>C (n.*49A>C) c.845A>C (p.Glu282Ala) c.*802A>C (n.*802A>C) c.872A>C (p.Glu291Ala) | |
| 1 | g.244054646A>G | CA345673870 | ZBTB18 | c.*49A>G (n.*49A>G) c.845A>G (p.Glu282Gly) c.*802A>G (n.*802A>G) c.872A>G (p.Glu291Gly) | |
| 1 | g.244054646A>T | CA345673869 | ZBTB18 | c.*49A>T (n.*49A>T) c.845A>T (p.Glu282Val) c.*802A>T (n.*802A>T) c.872A>T (p.Glu291Val) | |
| 1 | g.244054647G>A | CA424411047 | ZBTB18 | c.*50G>A (n.*50G>A) c.846G>A (p.Glu282=) c.*803G>A (n.*803G>A) c.873G>A (p.Glu291=) | |
| 1 | g.244054647G>C | CA1484357 | ZBTB18 | c.*50G>C (n.*50G>C) c.846G>C (p.Glu282Asp) c.*803G>C (n.*803G>C) c.873G>C (p.Glu291Asp) | dbSNP ExAC gnomAD v2 |
| 1 | g.244054647G= | CA1141788640 | ZBTB18 | c.*50G= (n.*50G=) c.846G= (p.Glu282=) c.*803G= (n.*803G=) c.873G= (p.Glu291=) | |
| 1 | g.244054647G>T | CA345673871 | ZBTB18 | c.*50G>T (n.*50G>T) c.846G>T (p.Glu282Asp) c.*803G>T (n.*803G>T) c.873G>T (p.Glu291Asp) | |
| 1 | g.244054648A>C | CA345673872 | ZBTB18 | c.*51A>C (n.*51A>C) c.847A>C (p.Ser283Arg) c.*804A>C (n.*804A>C) c.874A>C (p.Ser292Arg) | gnomAD v4 |
| 1 | g.244054648A>G | CA345673873 | ZBTB18 | c.*51A>G (n.*51A>G) c.847A>G (p.Ser283Gly) c.*804A>G (n.*804A>G) c.874A>G (p.Ser292Gly) | |
| 1 | g.244054648A>T | CA345673874 | ZBTB18 | c.*51A>T (n.*51A>T) c.847A>T (p.Ser283Cys) c.*804A>T (n.*804A>T) c.874A>T (p.Ser292Cys) | |
| 1 | g.244054649G>A | CA345673875 | ZBTB18 | c.*52G>A (n.*52G>A) c.848G>A (p.Ser283Asn) c.*805G>A (n.*805G>A) c.875G>A (p.Ser292Asn) | COSMIC |
| 1 | g.244054649G>C | CA345673876 | ZBTB18 | c.*52G>C (n.*52G>C) c.848G>C (p.Ser283Thr) c.*805G>C (n.*805G>C) c.875G>C (p.Ser292Thr) | |
| 1 | g.244054649G>T | CA345673877 | ZBTB18 | c.*52G>T (n.*52G>T) c.848G>T (p.Ser283Ile) c.*805G>T (n.*805G>T) c.875G>T (p.Ser292Ile) | |
| 1 | g.244054651_244054655del | CA2580063501 | ZBTB18 | c.*54_*58del (n.*54_*58del) c.850_854del (p.Asp284TrpfsTer3) c.*807_*811del (n.*807_*811del) c.877_881del (p.Asp293TrpfsTer3) | ClinVar dbSNP |
| 1 | g.244054650T>A | CA345673878 | ZBTB18 | c.*53T>A (n.*53T>A) c.849T>A (p.Ser283Arg) c.*806T>A (n.*806T>A) c.876T>A (p.Ser292Arg) | |
| 1 | g.244054650T>C | CA424411058 | ZBTB18 | c.*53T>C (n.*53T>C) c.849T>C (p.Ser283=) c.*806T>C (n.*806T>C) c.876T>C (p.Ser292=) | |
| 1 | g.244054650T>G | CA345673879 | ZBTB18 | c.*53T>G (n.*53T>G) c.849T>G (p.Ser283Arg) c.*806T>G (n.*806T>G) c.876T>G (p.Ser292Arg) | |
| 1 | g.244054651G>A | CA345673882 | ZBTB18 | c.*54G>A (n.*54G>A) c.850G>A (p.Asp284Asn) c.*807G>A (n.*807G>A) c.877G>A (p.Asp293Asn) | dbSNP |
| 1 | g.244054651G>C | CA345673881 | ZBTB18 | c.*54G>C (n.*54G>C) c.850G>C (p.Asp284His) c.*807G>C (n.*807G>C) c.877G>C (p.Asp293His) | |
| 1 | g.244054651G= | CA1230659793 | ZBTB18 | c.*54G= (n.*54G=) c.850G= (p.Asp284=) c.*807G= (n.*807G=) c.877G= (p.Asp293=) | |
| 1 | g.244054651G>T | CA345673880 | ZBTB18 | c.*54G>T (n.*54G>T) c.850G>T (p.Asp284Tyr) c.*807G>T (n.*807G>T) c.877G>T (p.Asp293Tyr) | |
| 1 | g.244054652A>C | CA345673883 | ZBTB18 | c.*55A>C (n.*55A>C) c.851A>C (p.Asp284Ala) c.*808A>C (n.*808A>C) c.878A>C (p.Asp293Ala) | |
| 1 | g.244054652A>G | CA345673884 | ZBTB18 | c.*55A>G (n.*55A>G) c.851A>G (p.Asp284Gly) c.*808A>G (n.*808A>G) c.878A>G (p.Asp293Gly) | |
| 1 | g.244054652A>T | CA345673885 | ZBTB18 | c.*55A>T (n.*55A>T) c.851A>T (p.Asp284Val) c.*808A>T (n.*808A>T) c.878A>T (p.Asp293Val) | |
| 1 | g.244054653T>A | CA345673886 | ZBTB18 | c.*56T>A (n.*56T>A) c.852T>A (p.Asp284Glu) c.*809T>A (n.*809T>A) c.879T>A (p.Asp293Glu) | |
| 1 | g.244054653T>C | CA424411065 | ZBTB18 | c.*56T>C (n.*56T>C) c.852T>C (p.Asp284=) c.*809T>C (n.*809T>C) c.879T>C (p.Asp293=) | |
| 1 | g.244054653T>G | CA345673887 | ZBTB18 | c.*56T>G (n.*56T>G) c.852T>G (p.Asp284Glu) c.*809T>G (n.*809T>G) c.879T>G (p.Asp293Glu) | |
| 1 | g.244054654G>A | CA345673888 | ZBTB18 | c.*57G>A (n.*57G>A) c.853G>A (p.Val285Ile) c.*810G>A (n.*810G>A) c.880G>A (p.Val294Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.244054654G>C | CA345673889 | ZBTB18 | c.*57G>C (n.*57G>C) c.853G>C (p.Val285Leu) c.*810G>C (n.*810G>C) c.880G>C (p.Val294Leu) | |
| 1 | g.244054654G= | CA1230659794 | ZBTB18 | c.*57G= (n.*57G=) c.853G= (p.Val285=) c.*810G= (n.*810G=) c.880G= (p.Val294=) | |
| 1 | g.244054654G>T | CA345673890 | ZBTB18 | c.*57G>T (n.*57G>T) c.853G>T (p.Val285Phe) c.*810G>T (n.*810G>T) c.880G>T (p.Val294Phe) | |
| 1 | g.244054655T>A | CA345673891 | ZBTB18 | c.*58T>A (n.*58T>A) c.854T>A (p.Val285Asp) c.*811T>A (n.*811T>A) c.881T>A (p.Val294Asp) | |
| 1 | g.244054655T>C | CA345673892 | ZBTB18 | c.*58T>C (n.*58T>C) c.854T>C (p.Val285Ala) c.*811T>C (n.*811T>C) c.881T>C (p.Val294Ala) | dbSNP |
| 1 | g.244054655T>G | CA345673893 | ZBTB18 | c.*58T>G (n.*58T>G) c.854T>G (p.Val285Gly) c.*811T>G (n.*811T>G) c.881T>G (p.Val294Gly) | |
| 1 | g.244054655T= | CA1230659795 | ZBTB18 | c.*58T= (n.*58T=) c.854T= (p.Val285=) c.*811T= (n.*811T=) c.881T= (p.Val294=) | |
| 1 | g.244054656T>A | CA424411073 | ZBTB18 | c.*59T>A (n.*59T>A) c.855T>A (p.Val285=) c.*812T>A (n.*812T>A) c.882T>A (p.Val294=) | |
| 1 | g.244054656T>C | CA424411079 | ZBTB18 | c.*59T>C (n.*59T>C) c.855T>C (p.Val285=) c.*812T>C (n.*812T>C) c.882T>C (p.Val294=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.244054656T>G | CA424411082 | ZBTB18 | c.*59T>G (n.*59T>G) c.855T>G (p.Val285=) c.*812T>G (n.*812T>G) c.882T>G (p.Val294=) | |
| 1 | g.244054656T= | CA1230659796 | ZBTB18 | c.*59T= (n.*59T=) c.855T= (p.Val285=) c.*812T= (n.*812T=) c.882T= (p.Val294=) | |
| 1 | g.244054657G>A | CA345673895 | ZBTB18 | c.*60G>A (n.*60G>A) c.856G>A (p.Gly286Ser) c.*813G>A (n.*813G>A) c.883G>A (p.Gly295Ser) | gnomAD v4 |
| 1 | g.244054657G>C | CA345673896 | ZBTB18 | c.*60G>C (n.*60G>C) c.856G>C (p.Gly286Arg) c.*813G>C (n.*813G>C) c.883G>C (p.Gly295Arg) | |
| 1 | g.244054657G>T | CA345673894 | ZBTB18 | c.*60G>T (n.*60G>T) c.856G>T (p.Gly286Cys) c.*813G>T (n.*813G>T) c.883G>T (p.Gly295Cys) | gnomAD v4 |
| 1 | g.244054658G>A | CA345673897 | ZBTB18 | c.*61G>A (n.*61G>A) c.857G>A (p.Gly286Asp) c.*814G>A (n.*814G>A) c.884G>A (p.Gly295Asp) | |
| 1 | g.244054658G>C | CA345673898 | ZBTB18 | c.*61G>C (n.*61G>C) c.857G>C (p.Gly286Ala) c.*814G>C (n.*814G>C) c.884G>C (p.Gly295Ala) | |
| 1 | g.244054658G>T | CA345673899 | ZBTB18 | c.*61G>T (n.*61G>T) c.857G>T (p.Gly286Val) c.*814G>T (n.*814G>T) c.884G>T (p.Gly295Val) | gnomAD v4 |
| 1 | g.244054659C>A | CA424411091 | ZBTB18 | c.*62C>A (n.*62C>A) c.858C>A (p.Gly286=) c.*815C>A (n.*815C>A) c.885C>A (p.Gly295=) | |
| 1 | g.244054659C>G | CA424411088 | ZBTB18 | c.*62C>G (n.*62C>G) c.858C>G (p.Gly286=) c.*815C>G (n.*815C>G) c.885C>G (p.Gly295=) | |
| 1 | g.244054659C>T | CA424411090 | ZBTB18 | c.*62C>T (n.*62C>T) c.858C>T (p.Gly286=) c.*815C>T (n.*815C>T) c.885C>T (p.Gly295=) | |
| 1 | g.244054660A= | CA1230659797 | ZBTB18 | c.*63A= (n.*63A=) c.859A= (p.Thr287=) c.*816A= (n.*816A=) c.886A= (p.Thr296=) | |
| 1 | g.244054660A>C | CA41081521 | ZBTB18 | c.*63A>C (n.*63A>C) c.859A>C (p.Thr287Pro) c.*816A>C (n.*816A>C) c.886A>C (p.Thr296Pro) | dbSNP |
| 1 | g.244054660A>G | CA345673900 | ZBTB18 | c.*63A>G (n.*63A>G) c.859A>G (p.Thr287Ala) c.*816A>G (n.*816A>G) c.886A>G (p.Thr296Ala) | gnomAD v4 |
| 1 | g.244054660A>T | CA345673901 | ZBTB18 | c.*63A>T (n.*63A>T) c.859A>T (p.Thr287Ser) c.*816A>T (n.*816A>T) c.886A>T (p.Thr296Ser) | |
| 1 | g.244054661C>A | CA345673902 | ZBTB18 | c.*64C>A (n.*64C>A) c.860C>A (p.Thr287Asn) c.*817C>A (n.*817C>A) c.887C>A (p.Thr296Asn) | |
| 1 | g.244054661C>G | CA345673903 | ZBTB18 | c.*64C>G (n.*64C>G) c.860C>G (p.Thr287Ser) c.*817C>G (n.*817C>G) c.887C>G (p.Thr296Ser) | gnomAD v4 |
| 1 | g.244054661C>T | CA345673904 | ZBTB18 | c.*64C>T (n.*64C>T) c.860C>T (p.Thr287Ile) c.*817C>T (n.*817C>T) c.887C>T (p.Thr296Ile) | |
| 1 | g.244054662T>A | CA424411095 | ZBTB18 | c.*65T>A (n.*65T>A) c.861T>A (p.Thr287=) c.*818T>A (n.*818T>A) c.888T>A (p.Thr296=) | |
| 1 | g.244054662T>C | CA424411096 | ZBTB18 | c.*65T>C (n.*65T>C) c.861T>C (p.Thr287=) c.*818T>C (n.*818T>C) c.888T>C (p.Thr296=) | |
| 1 | g.244054662T>G | CA424411098 | ZBTB18 | c.*65T>G (n.*65T>G) c.861T>G (p.Thr287=) c.*818T>G (n.*818T>G) c.888T>G (p.Thr296=) | |
| 1 | g.244054663A= | CA1230659798 | ZBTB18 | c.*66A= (n.*66A=) c.862A= (p.Asn288=) c.*819A= (n.*819A=) c.889A= (p.Asn297=) | |
| 1 | g.244054663A>C | CA345673905 | ZBTB18 | c.*66A>C (n.*66A>C) c.862A>C (p.Asn288His) c.*819A>C (n.*819A>C) c.889A>C (p.Asn297His) | |
| 1 | g.244054663A>G | CA1484358 | ZBTB18 | c.*66A>G (n.*66A>G) c.862A>G (p.Asn288Asp) c.*819A>G (n.*819A>G) c.889A>G (p.Asn297Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.244054663A>T | CA345673906 | ZBTB18 | c.*66A>T (n.*66A>T) c.862A>T (p.Asn288Tyr) c.*819A>T (n.*819A>T) c.889A>T (p.Asn297Tyr) | |
| 1 | g.244054664A>C | CA345673908 | ZBTB18 | c.*67A>C (n.*67A>C) c.863A>C (p.Asn288Thr) c.*820A>C (n.*820A>C) c.890A>C (p.Asn297Thr) | |
| 1 | g.244054664A>G | CA345673909 | ZBTB18 | c.*67A>G (n.*67A>G) c.863A>G (p.Asn288Ser) c.*820A>G (n.*820A>G) c.890A>G (p.Asn297Ser) | |
| 1 | g.244054664A>T | CA345673907 | ZBTB18 | c.*67A>T (n.*67A>T) c.863A>T (p.Asn288Ile) c.*820A>T (n.*820A>T) c.890A>T (p.Asn297Ile) | |
| 1 | g.244054665T>A | CA345673910 | ZBTB18 | c.*68T>A (n.*68T>A) c.864T>A (p.Asn288Lys) c.*821T>A (n.*821T>A) c.891T>A (p.Asn297Lys) | |
| 1 | g.244054665T>C | CA424411105 | ZBTB18 | c.*68T>C (n.*68T>C) c.864T>C (p.Asn288=) c.*821T>C (n.*821T>C) c.891T>C (p.Asn297=) | |
| 1 | g.244054665T>G | CA345673911 | ZBTB18 | c.*68T>G (n.*68T>G) c.864T>G (p.Asn288Lys) c.*821T>G (n.*821T>G) c.891T>G (p.Asn297Lys) | |
| 1 | g.244054666G>A | CA345673912 | ZBTB18 | c.*69G>A (n.*69G>A) c.865G>A (p.Asp289Asn) c.*822G>A (n.*822G>A) c.892G>A (p.Asp298Asn) | |
| 1 | g.244054666G>C | CA345673913 | ZBTB18 | c.*69G>C (n.*69G>C) c.865G>C (p.Asp289His) c.*822G>C (n.*822G>C) c.892G>C (p.Asp298His) | |
| 1 | g.244054666G= | CA1230659799 | ZBTB18 | c.*69G= (n.*69G=) c.865G= (p.Asp289=) c.*822G= (n.*822G=) c.892G= (p.Asp298=) | |
| 1 | g.244054666G>T | CA345673914 | ZBTB18 | c.*69G>T (n.*69G>T) c.865G>T (p.Asp289Tyr) c.*822G>T (n.*822G>T) c.892G>T (p.Asp298Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.244054667A>C | CA345673917 | ZBTB18 | c.*70A>C (n.*70A>C) c.866A>C (p.Asp289Ala) c.*823A>C (n.*823A>C) c.893A>C (p.Asp298Ala) | |
| 1 | g.244054667A>G | CA345673915 | ZBTB18 | c.*70A>G (n.*70A>G) c.866A>G (p.Asp289Gly) c.*823A>G (n.*823A>G) c.893A>G (p.Asp298Gly) | |
| 1 | g.244054667A>T | CA345673916 | ZBTB18 | c.*70A>T (n.*70A>T) c.866A>T (p.Asp289Val) c.*823A>T (n.*823A>T) c.893A>T (p.Asp298Val) | |
| 1 | g.244054668C>A | CA345673918 | ZBTB18 | c.*71C>A (n.*71C>A) c.867C>A (p.Asp289Glu) c.*824C>A (n.*824C>A) c.894C>A (p.Asp298Glu) | |
| 1 | g.244054668C>G | CA345673919 | ZBTB18 | c.*71C>G (n.*71C>G) c.867C>G (p.Asp289Glu) c.*824C>G (n.*824C>G) c.894C>G (p.Asp298Glu) | |
| 1 | g.244054668C>T | CA424411112 | ZBTB18 | c.*71C>T (n.*71C>T) c.867C>T (p.Asp289=) c.*824C>T (n.*824C>T) c.894C>T (p.Asp298=) | gnomAD v4 |
| 1 | g.244054669T>A | CA345673920 | ZBTB18 | c.*72T>A (n.*72T>A) c.868T>A (p.Tyr290Asn) c.*825T>A (n.*825T>A) c.895T>A (p.Tyr299Asn) | |
| 1 | g.244054669T>C | CA345673921 | ZBTB18 | c.*72T>C (n.*72T>C) c.868T>C (p.Tyr290His) c.*825T>C (n.*825T>C) c.895T>C (p.Tyr299His) | |
| 1 | g.244054669T>G | CA345673922 | ZBTB18 | c.*72T>G (n.*72T>G) c.868T>G (p.Tyr290Asp) c.*825T>G (n.*825T>G) c.895T>G (p.Tyr299Asp) | |
| 1 | g.244054670A= | CA1144302456 | ZBTB18 | c.*73A= (n.*73A=) c.869A= (p.Tyr290=) c.*826A= (n.*826A=) c.896A= (p.Tyr299=) | |
| 1 | g.244054670A>C | CA345673924 | ZBTB18 | c.*73A>C (n.*73A>C) c.869A>C (p.Tyr290Ser) c.*826A>C (n.*826A>C) c.896A>C (p.Tyr299Ser) | |
| 1 | g.244054670A>G | CA1484359 | ZBTB18 | c.*73A>G (n.*73A>G) c.869A>G (p.Tyr290Cys) c.*826A>G (n.*826A>G) c.896A>G (p.Tyr299Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.244054670A>T | CA345673923 | ZBTB18 | c.*73A>T (n.*73A>T) c.869A>T (p.Tyr290Phe) c.*826A>T (n.*826A>T) c.896A>T (p.Tyr299Phe) | gnomAD v4 |
| 1 | g.244054671T>A | CA345673925 | ZBTB18 | c.*74T>A (n.*74T>A) c.870T>A (p.Tyr290Ter) c.*827T>A (n.*827T>A) c.897T>A (p.Tyr299Ter) | |
| 1 | g.244054671T>C | CA41081522 | ZBTB18 | c.*74T>C (n.*74T>C) c.870T>C (p.Tyr290=) c.*827T>C (n.*827T>C) c.897T>C (p.Tyr299=) | dbSNP |
| 1 | g.244054671T>G | CA345673926 | ZBTB18 | c.*74T>G (n.*74T>G) c.870T>G (p.Tyr290Ter) c.*827T>G (n.*827T>G) c.897T>G (p.Tyr299Ter) | |
| 1 | g.244054671T= | CA1230659800 | ZBTB18 | c.*74T= (n.*74T=) c.870T= (p.Tyr290=) c.*827T= (n.*827T=) c.897T= (p.Tyr299=) | |
| 1 | g.244054672G>A | CA345673927 | ZBTB18 | c.*75G>A (n.*75G>A) c.871G>A (p.Asp291Asn) c.*828G>A (n.*828G>A) c.898G>A (p.Asp300Asn) | |
| 1 | g.244054672G>C | CA345673928 | ZBTB18 | c.*75G>C (n.*75G>C) c.871G>C (p.Asp291His) c.*828G>C (n.*828G>C) c.898G>C (p.Asp300His) | |
| 1 | g.244054672G>T | CA345673929 | ZBTB18 | c.*75G>T (n.*75G>T) c.871G>T (p.Asp291Tyr) c.*828G>T (n.*828G>T) c.898G>T (p.Asp300Tyr) | |
| 1 | g.244054672_244054681delinsGACATGGAAC | CA1230659801 | ZBTB18 | c.*75_*84delinsGACATGGAAC (n.*75_*84delinsGACATGGAAC) c.871_880delinsGACATGGAAC (p.Asp291=) c.*828_*837delinsGACATGGAAC (n.*828_*837delinsGACATGGAAC) c.898_907delinsGACATGGAAC (p.Asp300=) | |
| 1 | g.244054673A>C | CA345673930 | ZBTB18 | c.*76A>C (n.*76A>C) c.872A>C (p.Asp291Ala) c.*829A>C (n.*829A>C) c.899A>C (p.Asp300Ala) | |
| 1 | g.244054673A>G | CA345673931 | ZBTB18 | c.*76A>G (n.*76A>G) c.872A>G (p.Asp291Gly) c.*829A>G (n.*829A>G) c.899A>G (p.Asp300Gly) | |
| 1 | g.244054673A>T | CA345673932 | ZBTB18 | c.*76A>T (n.*76A>T) c.872A>T (p.Asp291Val) c.*829A>T (n.*829A>T) c.899A>T (p.Asp300Val) | |
| 1 | g.244054674_244054682del | CA1230659802 | ZBTB18 | c.*77_*85del (n.*77_*85del) c.873_881del (p.Met292_His294del) c.*830_*838del (n.*830_*838del) c.900_908del (p.Met301_His303del) | dbSNP |
| 1 | g.244054674C>A | CA345673933 | ZBTB18 | c.*77C>A (n.*77C>A) c.873C>A (p.Asp291Glu) c.*830C>A (n.*830C>A) c.900C>A (p.Asp300Glu) | |
| 1 | g.244054674C= | CA1230659803 | ZBTB18 | c.*77C= (n.*77C=) c.873C= (p.Asp291=) c.*830C= (n.*830C=) c.900C= (p.Asp300=) | |
| 1 | g.244054674C>G | CA345673934 | ZBTB18 | c.*77C>G (n.*77C>G) c.873C>G (p.Asp291Glu) c.*830C>G (n.*830C>G) c.900C>G (p.Asp300Glu) | |
| 1 | g.244054674C>T | CA1484360 | ZBTB18 | c.*77C>T (n.*77C>T) c.873C>T (p.Asp291=) c.*830C>T (n.*830C>T) c.900C>T (p.Asp300=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.244054675A= | CA1230659804 | ZBTB18 | c.*78A= (n.*78A=) c.874A= (p.Met292=) c.*831A= (n.*831A=) c.901A= (p.Met301=) | |
| 1 | g.244054675A>C | CA345673935 | ZBTB18 | c.*78A>C (n.*78A>C) c.874A>C (p.Met292Leu) c.*831A>C (n.*831A>C) c.901A>C (p.Met301Leu) | |
| 1 | g.244054675A>G | CA345673936 | ZBTB18 | c.*78A>G (n.*78A>G) c.874A>G (p.Met292Val) c.*831A>G (n.*831A>G) c.901A>G (p.Met301Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.244054675A>T | CA345673937 | ZBTB18 | c.*78A>T (n.*78A>T) c.874A>T (p.Met292Leu) c.*831A>T (n.*831A>T) c.901A>T (p.Met301Leu) | |
| 1 | g.244054676T>A | CA345673940 | ZBTB18 | c.*79T>A (n.*79T>A) c.875T>A (p.Met292Lys) c.*832T>A (n.*832T>A) c.902T>A (p.Met301Lys) | |
| 1 | g.244054676T>C | CA345673938 | ZBTB18 | c.*79T>C (n.*79T>C) c.875T>C (p.Met292Thr) c.*832T>C (n.*832T>C) c.902T>C (p.Met301Thr) | |
| 1 | g.244054676T>G | CA345673939 | ZBTB18 | c.*79T>G (n.*79T>G) c.875T>G (p.Met292Arg) c.*832T>G (n.*832T>G) c.902T>G (p.Met301Arg) | |
| 1 | g.244054677G>A | CA345673941 | ZBTB18 | c.*80G>A (n.*80G>A) c.876G>A (p.Met292Ile) c.*833G>A (n.*833G>A) c.903G>A (p.Met301Ile) | |
| 1 | g.244054677G>C | CA345673942 | ZBTB18 | c.*80G>C (n.*80G>C) c.876G>C (p.Met292Ile) c.*833G>C (n.*833G>C) c.903G>C (p.Met301Ile) | |
| 1 | g.244054677G>T | CA345673943 | ZBTB18 | c.*80G>T (n.*80G>T) c.876G>T (p.Met292Ile) c.*833G>T (n.*833G>T) c.903G>T (p.Met301Ile) | |
| 1 | g.244054678G>A | CA345673944 | ZBTB18 | c.*81G>A (n.*81G>A) c.877G>A (p.Glu293Lys) c.*834G>A (n.*834G>A) c.904G>A (p.Glu302Lys) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 1 | g.244054678G>C | CA345673945 | ZBTB18 | c.*81G>C (n.*81G>C) c.877G>C (p.Glu293Gln) c.*834G>C (n.*834G>C) c.904G>C (p.Glu302Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.244054678G= | CA1230659805 | ZBTB18 | c.*81G= (n.*81G=) c.877G= (p.Glu293=) c.*834G= (n.*834G=) c.904G= (p.Glu302=) | |
| 1 | g.244054678G>T | CA345673946 | ZBTB18 | c.*81G>T (n.*81G>T) c.877G>T (p.Glu293Ter) c.*834G>T (n.*834G>T) c.904G>T (p.Glu302Ter) | |
| 1 | g.244054679A>C | CA345673947 | ZBTB18 | c.*82A>C (n.*82A>C) c.878A>C (p.Glu293Ala) c.*835A>C (n.*835A>C) c.905A>C (p.Glu302Ala) | |
| 1 | g.244054679A>G | CA345673948 | ZBTB18 | c.*82A>G (n.*82A>G) c.878A>G (p.Glu293Gly) c.*835A>G (n.*835A>G) c.905A>G (p.Glu302Gly) | |
| 1 | g.244054679A>T | CA345673949 | ZBTB18 | c.*82A>T (n.*82A>T) c.878A>T (p.Glu293Val) c.*835A>T (n.*835A>T) c.905A>T (p.Glu302Val) | |
| 1 | g.244054680A>C | CA345673950 | ZBTB18 | c.*83A>C (n.*83A>C) c.879A>C (p.Glu293Asp) c.*836A>C (n.*836A>C) c.906A>C (p.Glu302Asp) | |
| 1 | g.244054680A>G | CA424411125 | ZBTB18 | c.*83A>G (n.*83A>G) c.879A>G (p.Glu293=) c.*836A>G (n.*836A>G) c.906A>G (p.Glu302=) | ClinVar |
| 1 | g.244054680A>T | CA345673951 | ZBTB18 | c.*83A>T (n.*83A>T) c.879A>T (p.Glu293Asp) c.*836A>T (n.*836A>T) c.906A>T (p.Glu302Asp) | |
| 1 | g.244054681C>A | CA345673952 | ZBTB18 | c.*84C>A (n.*84C>A) c.880C>A (p.His294Asn) c.*837C>A (n.*837C>A) c.907C>A (p.His303Asn) | |
| 1 | g.244054681C= | CA1230659806 | ZBTB18 | c.*84C= (n.*84C=) c.880C= (p.His294=) c.*837C= (n.*837C=) c.907C= (p.His303=) | |
| 1 | g.244054681C>G | CA345673953 | ZBTB18 | c.*84C>G (n.*84C>G) c.880C>G (p.His294Asp) c.*837C>G (n.*837C>G) c.907C>G (p.His303Asp) | |
| 1 | g.244054681C>T | CA1484361 | ZBTB18 | c.*84C>T (n.*84C>T) c.880C>T (p.His294Tyr) c.*837C>T (n.*837C>T) c.907C>T (p.His303Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.244054682A>C | CA345673954 | ZBTB18 | c.*85A>C (n.*85A>C) c.881A>C (p.His294Pro) c.*838A>C (n.*838A>C) c.908A>C (p.His303Pro) | |
| 1 | g.244054682A>G | CA345673955 | ZBTB18 | c.*85A>G (n.*85A>G) c.881A>G (p.His294Arg) c.*838A>G (n.*838A>G) c.908A>G (p.His303Arg) | |
| 1 | g.244054682A>T | CA345673956 | ZBTB18 | c.*85A>T (n.*85A>T) c.881A>T (p.His294Leu) c.*838A>T (n.*838A>T) c.908A>T (p.His303Leu) | |
| 1 | g.244054683T>A | CA345673957 | ZBTB18 | c.*86T>A (n.*86T>A) c.882T>A (p.His294Gln) c.*839T>A (n.*839T>A) c.909T>A (p.His303Gln) | |
| 1 | g.244054683T>C | CA424411127 | ZBTB18 | c.*86T>C (n.*86T>C) c.882T>C (p.His294=) c.*839T>C (n.*839T>C) c.909T>C (p.His303=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.244054683T>G | CA345673958 | ZBTB18 | c.*86T>G (n.*86T>G) c.882T>G (p.His294Gln) c.*839T>G (n.*839T>G) c.909T>G (p.His303Gln) | |
| 1 | g.244054683T= | CA1230659807 | ZBTB18 | c.*86T= (n.*86T=) c.882T= (p.His294=) c.*839T= (n.*839T=) c.909T= (p.His303=) | |
| 1 | g.244054684A= | CA1230659808 | ZBTB18 | c.*87A= (n.*87A=) c.883A= (p.Ser295=) c.*840A= (n.*840A=) c.910A= (p.Ser304=) | |
| 1 | g.244054684A>C | CA345673959 | ZBTB18 | c.*87A>C (n.*87A>C) c.883A>C (p.Ser295Arg) c.*840A>C (n.*840A>C) c.910A>C (p.Ser304Arg) | |
| 1 | g.244054684A>G | CA41081523 | ZBTB18 | c.*87A>G (n.*87A>G) c.883A>G (p.Ser295Gly) c.*840A>G (n.*840A>G) c.910A>G (p.Ser304Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.244054684A>T | CA345673960 | ZBTB18 | c.*87A>T (n.*87A>T) c.883A>T (p.Ser295Cys) c.*840A>T (n.*840A>T) c.910A>T (p.Ser304Cys) | |
| 1 | g.244054685G>A | CA345673961 | ZBTB18 | c.*88G>A (n.*88G>A) c.884G>A (p.Ser295Asn) c.*841G>A (n.*841G>A) c.911G>A (p.Ser304Asn) | |
| 1 | g.244054685G>C | CA345673962 | ZBTB18 | c.*88G>C (n.*88G>C) c.884G>C (p.Ser295Thr) c.*841G>C (n.*841G>C) c.911G>C (p.Ser304Thr) | |
| 1 | g.244054685G>T | CA345673963 | ZBTB18 | c.*88G>T (n.*88G>T) c.884G>T (p.Ser295Ile) c.*841G>T (n.*841G>T) c.911G>T (p.Ser304Ile) | |
| 1 | g.244054686C>A | CA345673964 | ZBTB18 | c.*89C>A (n.*89C>A) c.885C>A (p.Ser295Arg) c.*842C>A (n.*842C>A) c.912C>A (p.Ser304Arg) | |
| 1 | g.244054686C>G | CA345673965 | ZBTB18 | c.*89C>G (n.*89C>G) c.885C>G (p.Ser295Arg) c.*842C>G (n.*842C>G) c.912C>G (p.Ser304Arg) | |
| 1 | g.244054686C>T | CA424411130 | ZBTB18 | c.*89C>T (n.*89C>T) c.885C>T (p.Ser295=) c.*842C>T (n.*842C>T) c.912C>T (p.Ser304=) | gnomAD v4 |
| 1 | g.244054687A>C | CA345673968 | ZBTB18 | c.*90A>C (n.*90A>C) c.886A>C (p.Thr296Pro) c.*843A>C (n.*843A>C) c.913A>C (p.Thr305Pro) | |
| 1 | g.244054687A>G | CA345673967 | ZBTB18 | c.*90A>G (n.*90A>G) c.886A>G (p.Thr296Ala) c.*843A>G (n.*843A>G) c.913A>G (p.Thr305Ala) | gnomAD v4 |
| 1 | g.244054687A>T | CA345673966 | ZBTB18 | c.*90A>T (n.*90A>T) c.886A>T (p.Thr296Ser) c.*843A>T (n.*843A>T) c.913A>T (p.Thr305Ser) | |
| 1 | g.244054688C>A | CA345673969 | ZBTB18 | c.*91C>A (n.*91C>A) c.887C>A (p.Thr296Asn) c.*844C>A (n.*844C>A) c.914C>A (p.Thr305Asn) | |
| 1 | g.244054688C= | CA1230659809 | ZBTB18 | c.*91C= (n.*91C=) c.887C= (p.Thr296=) c.*844C= (n.*844C=) c.914C= (p.Thr305=) | |
| 1 | g.244054688C>G | CA345673970 | ZBTB18 | c.*91C>G (n.*91C>G) c.887C>G (p.Thr296Ser) c.*844C>G (n.*844C>G) c.914C>G (p.Thr305Ser) | ClinVar |
| 1 | g.244054688C>T | CA345673971 | ZBTB18 | c.*91C>T (n.*91C>T) c.887C>T (p.Thr296Ile) c.*844C>T (n.*844C>T) c.914C>T (p.Thr305Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.244054689T>A | CA424411133 | ZBTB18 | c.*92T>A (n.*92T>A) c.888T>A (p.Thr296=) c.*845T>A (n.*845T>A) c.915T>A (p.Thr305=) | |
| 1 | g.244054689T>C | CA424411134 | ZBTB18 | c.*92T>C (n.*92T>C) c.888T>C (p.Thr296=) c.*845T>C (n.*845T>C) c.915T>C (p.Thr305=) | |
| 1 | g.244054689T>G | CA424411135 | ZBTB18 | c.*92T>G (n.*92T>G) c.888T>G (p.Thr296=) c.*845T>G (n.*845T>G) c.915T>G (p.Thr305=) | |
| 1 | g.244054690G>A | CA345673972 | ZBTB18 | c.*93G>A (n.*93G>A) c.889G>A (p.Val297Met) c.*846G>A (n.*846G>A) c.916G>A (p.Val306Met) | |
| 1 | g.244054690G>C | CA345673973 | ZBTB18 | c.*93G>C (n.*93G>C) c.889G>C (p.Val297Leu) c.*846G>C (n.*846G>C) c.916G>C (p.Val306Leu) | COSMIC |
| 1 | g.244054690G>T | CA345673974 | ZBTB18 | c.*93G>T (n.*93G>T) c.889G>T (p.Val297Leu) c.*846G>T (n.*846G>T) c.916G>T (p.Val306Leu) | |
| 1 | g.244054691T>A | CA345673975 | ZBTB18 | c.*94T>A (n.*94T>A) c.890T>A (p.Val297Glu) c.*847T>A (n.*847T>A) c.917T>A (p.Val306Glu) | |
| 1 | g.244054691T>C | CA345673976 | ZBTB18 | c.*94T>C (n.*94T>C) c.890T>C (p.Val297Ala) c.*847T>C (n.*847T>C) c.917T>C (p.Val306Ala) | |
| 1 | g.244054691T>G | CA345673977 | ZBTB18 | c.*94T>G (n.*94T>G) c.890T>G (p.Val297Gly) c.*847T>G (n.*847T>G) c.917T>G (p.Val306Gly) | |
| 1 | g.244054692G>A | CA424411140 | ZBTB18 | c.*95G>A (n.*95G>A) c.891G>A (p.Val297=) c.*848G>A (n.*848G>A) c.918G>A (p.Val306=) | |
| 1 | g.244054692G>C | CA424411142 | ZBTB18 | c.*95G>C (n.*95G>C) c.891G>C (p.Val297=) c.*848G>C (n.*848G>C) c.918G>C (p.Val306=) | |
| 1 | g.244054692G>T | CA424411144 | ZBTB18 | c.*95G>T (n.*95G>T) c.891G>T (p.Val297=) c.*848G>T (n.*848G>T) c.918G>T (p.Val306=) | |
| 1 | g.244054697_244054700del | CA645516228 | ZBTB18 | c.*100_*103del (n.*100_*103del) c.896_899del (p.Glu299ValfsTer2) c.*853_*856del (n.*853_*856del) c.923_926del (p.Glu308ValfsTer2) | COSMIC COSMIC |
| 1 | g.244054693A>C | CA345673978 | ZBTB18 | c.*96A>C (n.*96A>C) c.892A>C (p.Lys298Gln) c.*849A>C (n.*849A>C) c.919A>C (p.Lys307Gln) | |
| 1 | g.244054693A>G | CA345673979 | ZBTB18 | c.*96A>G (n.*96A>G) c.892A>G (p.Lys298Glu) c.*849A>G (n.*849A>G) c.919A>G (p.Lys307Glu) | |
| 1 | g.244054693A>T | CA345673980 | ZBTB18 | c.*96A>T (n.*96A>T) c.892A>T (p.Lys298Ter) c.*849A>T (n.*849A>T) c.919A>T (p.Lys307Ter) | |
| 1 | g.244054694A>C | CA345673983 | ZBTB18 | c.*97A>C (n.*97A>C) c.893A>C (p.Lys298Thr) c.*850A>C (n.*850A>C) c.920A>C (p.Lys307Thr) | |
| 1 | g.244054694A>G | CA345673982 | ZBTB18 | c.*97A>G (n.*97A>G) c.893A>G (p.Lys298Arg) c.*850A>G (n.*850A>G) c.920A>G (p.Lys307Arg) | |
| 1 | g.244054694A>T | CA345673981 | ZBTB18 | c.*97A>T (n.*97A>T) c.893A>T (p.Lys298Ile) c.*850A>T (n.*850A>T) c.920A>T (p.Lys307Ile) | |
| 1 | g.244054695A= | CA1142595983 | ZBTB18 | c.*98A= (n.*98A=) c.894A= (p.Lys298=) c.*851A= (n.*851A=) c.921A= (p.Lys307=) | |
| 1 | g.244054695A>C | CA345673984 | ZBTB18 | c.*98A>C (n.*98A>C) c.894A>C (p.Lys298Asn) c.*851A>C (n.*851A>C) c.921A>C (p.Lys307Asn) | |
| 1 | g.244054695A>G | CA41081524 | ZBTB18 | c.*98A>G (n.*98A>G) c.894A>G (p.Lys298=) c.*851A>G (n.*851A>G) c.921A>G (p.Lys307=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.244054695A>T | CA345673985 | ZBTB18 | c.*98A>T (n.*98A>T) c.894A>T (p.Lys298Asn) c.*851A>T (n.*851A>T) c.921A>T (p.Lys307Asn) | |
| 1 | g.244054696G>A | CA1484362 | ZBTB18 | c.*99G>A (n.*99G>A) c.895G>A (p.Glu299Lys) c.*852G>A (n.*852G>A) c.922G>A (p.Glu308Lys) | dbSNP ExAC |
| 1 | g.244054696G>C | CA345673987 | ZBTB18 | c.*99G>C (n.*99G>C) c.895G>C (p.Glu299Gln) c.*852G>C (n.*852G>C) c.922G>C (p.Glu308Gln) | |
| 1 | g.244054696G= | CA1230659810 | ZBTB18 | c.*99G= (n.*99G=) c.895G= (p.Glu299=) c.*852G= (n.*852G=) c.922G= (p.Glu308=) | |
| 1 | g.244054696G>T | CA345673986 | ZBTB18 | c.*99G>T (n.*99G>T) c.895G>T (p.Glu299Ter) c.*852G>T (n.*852G>T) c.922G>T (p.Glu308Ter) | ClinVar dbSNP |
| 1 | g.244054697A>C | CA345673988 | ZBTB18 | c.*100A>C (n.*100A>C) c.896A>C (p.Glu299Ala) c.*853A>C (n.*853A>C) c.923A>C (p.Glu308Ala) | |
| 1 | g.244054697A>G | CA345673989 | ZBTB18 | c.*100A>G (n.*100A>G) c.896A>G (p.Glu299Gly) c.*853A>G (n.*853A>G) c.923A>G (p.Glu308Gly) | gnomAD v4 |
| 1 | g.244054697A>T | CA345673990 | ZBTB18 | c.*100A>T (n.*100A>T) c.896A>T (p.Glu299Val) c.*853A>T (n.*853A>T) c.923A>T (p.Glu308Val) | |
| 1 | g.244054698A= | CA1230659811 | ZBTB18 | c.*101A= (n.*101A=) c.897A= (p.Glu299=) c.*854A= (n.*854A=) c.924A= (p.Glu308=) | |
| 1 | g.244054698A>C | CA345673991 | ZBTB18 | c.*101A>C (n.*101A>C) c.897A>C (p.Glu299Asp) c.*854A>C (n.*854A>C) c.924A>C (p.Glu308Asp) | |
| 1 | g.244054698A>G | CA1484363 | ZBTB18 | c.*101A>G (n.*101A>G) c.897A>G (p.Glu299=) c.*854A>G (n.*854A>G) c.924A>G (p.Glu308=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.244054698A>T | CA345673992 | ZBTB18 | c.*101A>T (n.*101A>T) c.897A>T (p.Glu299Asp) c.*854A>T (n.*854A>T) c.924A>T (p.Glu308Asp) | |
| 1 | g.244054699A= | CA1230659812 | ZBTB18 | c.*102A= (n.*102A=) c.898A= (p.Ser300=) c.*855A= (n.*855A=) c.925A= (p.Ser309=) | |
| 1 | g.244054699A>C | CA345673993 | ZBTB18 | c.*102A>C (n.*102A>C) c.898A>C (p.Ser300Arg) c.*855A>C (n.*855A>C) c.925A>C (p.Ser309Arg) | |
| 1 | g.244054699A>G | CA41081525 | ZBTB18 | c.*102A>G (n.*102A>G) c.898A>G (p.Ser300Gly) c.*855A>G (n.*855A>G) c.925A>G (p.Ser309Gly) | dbSNP |
| 1 | g.244054699A>T | CA345673994 | ZBTB18 | c.*102A>T (n.*102A>T) c.898A>T (p.Ser300Cys) c.*855A>T (n.*855A>T) c.925A>T (p.Ser309Cys) | |
| 1 | g.244054700G>A | CA345673995 | ZBTB18 | c.*103G>A (n.*103G>A) c.899G>A (p.Ser300Asn) c.*856G>A (n.*856G>A) c.926G>A (p.Ser309Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.244054700G>C | CA345673996 | ZBTB18 | c.*103G>C (n.*103G>C) c.899G>C (p.Ser300Thr) c.*856G>C (n.*856G>C) c.926G>C (p.Ser309Thr) | |
| 1 | g.244054700G= | CA1230659813 | ZBTB18 | c.*103G= (n.*103G=) c.899G= (p.Ser300=) c.*856G= (n.*856G=) c.926G= (p.Ser309=) | |
| 1 | g.244054700G>T | CA345673997 | ZBTB18 | c.*103G>T (n.*103G>T) c.899G>T (p.Ser300Ile) c.*856G>T (n.*856G>T) c.926G>T (p.Ser309Ile) | ClinVar |
| 1 | g.244054701T>A | CA345673998 | ZBTB18 | c.*104T>A (n.*104T>A) c.900T>A (p.Ser300Arg) c.*857T>A (n.*857T>A) c.927T>A (p.Ser309Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.244054701T>C | CA424411153 | ZBTB18 | c.*104T>C (n.*104T>C) c.900T>C (p.Ser300=) c.*857T>C (n.*857T>C) c.927T>C (p.Ser309=) | dbSNP |
| 1 | g.244054701T>G | CA345673999 | ZBTB18 | c.*104T>G (n.*104T>G) c.900T>G (p.Ser300Arg) c.*857T>G (n.*857T>G) c.927T>G (p.Ser309Arg) | |
| 1 | g.244054701T= | CA1230659814 | ZBTB18 | c.*104T= (n.*104T=) c.900T= (p.Ser300=) c.*857T= (n.*857T=) c.927T= (p.Ser309=) | |
| 1 | g.244054702G>A | CA345674000 | ZBTB18 | c.*105G>A (n.*105G>A) c.901G>A (p.Val301Met) c.*858G>A (n.*858G>A) c.928G>A (p.Val310Met) | |
| 1 | g.244054702G>C | CA345674001 | ZBTB18 | c.*105G>C (n.*105G>C) c.901G>C (p.Val301Leu) c.*858G>C (n.*858G>C) c.928G>C (p.Val310Leu) | |
| 1 | g.244054702G>T | CA345674002 | ZBTB18 | c.*105G>T (n.*105G>T) c.901G>T (p.Val301Leu) c.*858G>T (n.*858G>T) c.928G>T (p.Val310Leu) | |
| 1 | g.244054703T>A | CA345674003 | ZBTB18 | c.*106T>A (n.*106T>A) c.902T>A (p.Val301Glu) c.*859T>A (n.*859T>A) c.929T>A (p.Val310Glu) | |
| 1 | g.244054703T>C | CA41081526 | ZBTB18 | c.*106T>C (n.*106T>C) c.902T>C (p.Val301Ala) c.*859T>C (n.*859T>C) c.929T>C (p.Val310Ala) | dbSNP |
| 1 | g.244054703T>G | CA345674004 | ZBTB18 | c.*106T>G (n.*106T>G) c.902T>G (p.Val301Gly) c.*859T>G (n.*859T>G) c.929T>G (p.Val310Gly) | |
| 1 | g.244054703T= | CA1143387772 | ZBTB18 | c.*106T= (n.*106T=) c.902T= (p.Val301=) c.*859T= (n.*859T=) c.929T= (p.Val310=) | |
| 1 | g.244054704G>A | CA424411154 | ZBTB18 | c.*107G>A (n.*107G>A) c.903G>A (p.Val301=) c.*860G>A (n.*860G>A) c.930G>A (p.Val310=) | |
| 1 | g.244054704G>C | CA1484364 | ZBTB18 | c.*107G>C (n.*107G>C) c.903G>C (p.Val301=) c.*860G>C (n.*860G>C) c.930G>C (p.Val310=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.244054704G= | CA1230659815 | ZBTB18 | c.*107G= (n.*107G=) c.903G= (p.Val301=) c.*860G= (n.*860G=) c.930G= (p.Val310=) | |
| 1 | g.244054704G>T | CA424411155 | ZBTB18 | c.*107G>T (n.*107G>T) c.903G>T (p.Val301=) c.*860G>T (n.*860G>T) c.930G>T (p.Val310=) | |
| 1 | g.244054705A>C | CA345674005 | ZBTB18 | c.*108A>C (n.*108A>C) c.904A>C (p.Ser302Arg) c.*861A>C (n.*861A>C) c.931A>C (p.Ser311Arg) | |
| 1 | g.244054705A>G | CA345674006 | ZBTB18 | c.*108A>G (n.*108A>G) c.904A>G (p.Ser302Gly) c.*861A>G (n.*861A>G) c.931A>G (p.Ser311Gly) | |
| 1 | g.244054705A>T | CA345674007 | ZBTB18 | c.*108A>T (n.*108A>T) c.904A>T (p.Ser302Cys) c.*861A>T (n.*861A>T) c.931A>T (p.Ser311Cys) | |
| 1 | g.244054706G>A | CA345674010 | ZBTB18 | c.*109G>A (n.*109G>A) c.905G>A (p.Ser302Asn) c.*862G>A (n.*862G>A) c.932G>A (p.Ser311Asn) | ClinVar dbSNP gnomAD v4 |
| 1 | g.244054706G>C | CA345674009 | ZBTB18 | c.*109G>C (n.*109G>C) c.905G>C (p.Ser302Thr) c.*862G>C (n.*862G>C) c.932G>C (p.Ser311Thr) | |
| 1 | g.244054706G= | CA1230659816 | ZBTB18 | c.*109G= (n.*109G=) c.905G= (p.Ser302=) c.*862G= (n.*862G=) c.932G= (p.Ser311=) | |
| 1 | g.244054706G>T | CA345674008 | ZBTB18 | c.*109G>T (n.*109G>T) c.905G>T (p.Ser302Ile) c.*862G>T (n.*862G>T) c.932G>T (p.Ser311Ile) | |
| 1 | g.244054707C>A | CA345674011 | ZBTB18 | c.*110C>A (n.*110C>A) c.906C>A (p.Ser302Arg) c.*863C>A (n.*863C>A) c.933C>A (p.Ser311Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.244054707C= | CA1230659817 | ZBTB18 | c.*110C= (n.*110C=) c.906C= (p.Ser302=) c.*863C= (n.*863C=) c.933C= (p.Ser311=) | |
| 1 | g.244054707C>G | CA345674012 | ZBTB18 | c.*110C>G (n.*110C>G) c.906C>G (p.Ser302Arg) c.*863C>G (n.*863C>G) c.933C>G (p.Ser311Arg) | |
| 1 | g.244054707C>T | CA424411156 | ZBTB18 | c.*110C>T (n.*110C>T) c.906C>T (p.Ser302=) c.*863C>T (n.*863C>T) c.933C>T (p.Ser311=) | COSMIC COSMIC |
| 1 | g.244054708A>C | CA345674013 | ZBTB18 | c.*111A>C (n.*111A>C) c.907A>C (p.Thr303Pro) c.*864A>C (n.*864A>C) c.934A>C (p.Thr312Pro) | |
| 1 | g.244054708A>G | CA345674014 | ZBTB18 | c.*111A>G (n.*111A>G) c.907A>G (p.Thr303Ala) c.*864A>G (n.*864A>G) c.934A>G (p.Thr312Ala) | |
| 1 | g.244054708A>T | CA345674015 | ZBTB18 | c.*111A>T (n.*111A>T) c.907A>T (p.Thr303Ser) c.*864A>T (n.*864A>T) c.934A>T (p.Thr312Ser) | |
| 1 | g.244054709C>A | CA345674016 | ZBTB18 | c.*112C>A (n.*112C>A) c.908C>A (p.Thr303Asn) c.*865C>A (n.*865C>A) c.935C>A (p.Thr312Asn) | |
| 1 | g.244054709C= | CA1230659818 | ZBTB18 | c.*112C= (n.*112C=) c.908C= (p.Thr303=) c.*865C= (n.*865C=) c.935C= (p.Thr312=) | |
| 1 | g.244054709C>G | CA1484365 | ZBTB18 | c.*112C>G (n.*112C>G) c.908C>G (p.Thr303Ser) c.*865C>G (n.*865C>G) c.935C>G (p.Thr312Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.244054709C>T | CA345674017 | ZBTB18 | c.*112C>T (n.*112C>T) c.908C>T (p.Thr303Ile) c.*865C>T (n.*865C>T) c.935C>T (p.Thr312Ile) | |
| 1 | g.244054710T>A | CA424411159 | ZBTB18 | c.*113T>A (n.*113T>A) c.909T>A (p.Thr303=) c.*866T>A (n.*866T>A) c.936T>A (p.Thr312=) | |
| 1 | g.244054710T>C | CA424411158 | ZBTB18 | c.*113T>C (n.*113T>C) c.909T>C (p.Thr303=) c.*866T>C (n.*866T>C) c.936T>C (p.Thr312=) | dbSNP gnomAD v2 |
| 1 | g.244054710T>G | CA424411157 | ZBTB18 | c.*113T>G (n.*113T>G) c.909T>G (p.Thr303=) c.*866T>G (n.*866T>G) c.936T>G (p.Thr312=) | |
| 1 | g.244054710T= | CA1230659819 | ZBTB18 | c.*113T= (n.*113T=) c.909T= (p.Thr303=) c.*866T= (n.*866T=) c.936T= (p.Thr312=) | |
| 1 | g.244054711A>C | CA345674018 | ZBTB18 | c.*114A>C (n.*114A>C) c.910A>C (p.Asn304His) c.*867A>C (n.*867A>C) c.937A>C (p.Asn313His) | |
| 1 | g.244054711A>G | CA345674019 | ZBTB18 | c.*114A>G (n.*114A>G) c.910A>G (p.Asn304Asp) c.*867A>G (n.*867A>G) c.937A>G (p.Asn313Asp) | |
| 1 | g.244054711A>T | CA345674020 | ZBTB18 | c.*114A>T (n.*114A>T) c.910A>T (p.Asn304Tyr) c.*867A>T (n.*867A>T) c.937A>T (p.Asn313Tyr) | |
| 1 | g.244054712A= | CA1230659820 | ZBTB18 | c.*115A= (n.*115A=) c.911A= (p.Asn304=) c.*868A= (n.*868A=) c.938A= (p.Asn313=) | |
| 1 | g.244054712A>C | CA345674022 | ZBTB18 | c.*115A>C (n.*115A>C) c.911A>C (p.Asn304Thr) c.*868A>C (n.*868A>C) c.938A>C (p.Asn313Thr) | |
| 1 | g.244054712A>G | CA1484366 | ZBTB18 | c.*115A>G (n.*115A>G) c.911A>G (p.Asn304Ser) c.*868A>G (n.*868A>G) c.938A>G (p.Asn313Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.244054712A>T | CA345674021 | ZBTB18 | c.*115A>T (n.*115A>T) c.911A>T (p.Asn304Ile) c.*868A>T (n.*868A>T) c.938A>T (p.Asn313Ile) | |
| 1 | g.244054713T>A | CA345674023 | ZBTB18 | c.*116T>A (n.*116T>A) c.912T>A (p.Asn304Lys) c.*869T>A (n.*869T>A) c.939T>A (p.Asn313Lys) | |
| 1 | g.244054713T>C | CA424411160 | ZBTB18 | c.*116T>C (n.*116T>C) c.912T>C (p.Asn304=) c.*869T>C (n.*869T>C) c.939T>C (p.Asn313=) | |
| 1 | g.244054713T>G | CA345674024 | ZBTB18 | c.*116T>G (n.*116T>G) c.912T>G (p.Asn304Lys) c.*869T>G (n.*869T>G) c.939T>G (p.Asn313Lys) | |
| 1 | g.244054714A>C | CA345674025 | ZBTB18 | c.*117A>C (n.*117A>C) c.913A>C (p.Asn305His) c.*870A>C (n.*870A>C) c.940A>C (p.Asn314His) | |
| 1 | g.244054714A>G | CA345674026 | ZBTB18 | c.*117A>G (n.*117A>G) c.913A>G (p.Asn305Asp) c.*870A>G (n.*870A>G) c.940A>G (p.Asn314Asp) | |
| 1 | g.244054714A>T | CA345674027 | ZBTB18 | c.*117A>T (n.*117A>T) c.913A>T (p.Asn305Tyr) c.*870A>T (n.*870A>T) c.940A>T (p.Asn314Tyr) | |
| 1 | g.244054715A>C | CA345674028 | ZBTB18 | c.*118A>C (n.*118A>C) c.914A>C (p.Asn305Thr) c.*871A>C (n.*871A>C) c.941A>C (p.Asn314Thr) | |
| 1 | g.244054715A>G | CA345674029 | ZBTB18 | c.*118A>G (n.*118A>G) c.914A>G (p.Asn305Ser) c.*871A>G (n.*871A>G) c.941A>G (p.Asn314Ser) | |
| 1 | g.244054715A>T | CA345674030 | ZBTB18 | c.*118A>T (n.*118A>T) c.914A>T (p.Asn305Ile) c.*871A>T (n.*871A>T) c.941A>T (p.Asn314Ile) | gnomAD v4 |
| 1 | g.244054716C>A | CA345674031 | ZBTB18 | c.*119C>A (n.*119C>A) c.915C>A (p.Asn305Lys) c.*872C>A (n.*872C>A) c.942C>A (p.Asn314Lys) | |
| 1 | g.244054716C>G | CA345674032 | ZBTB18 | c.*119C>G (n.*119C>G) c.915C>G (p.Asn305Lys) c.*872C>G (n.*872C>G) c.942C>G (p.Asn314Lys) | |
| 1 | g.244054716C>T | CA424411161 | ZBTB18 | c.*119C>T (n.*119C>T) c.915C>T (p.Asn305=) c.*872C>T (n.*872C>T) c.942C>T (p.Asn314=) | |
| 1 | g.244054716_244054718delinsCAG | CA1230659821 | ZBTB18 | c.*119_*121delinsCAG (n.*119_*121delinsCAG) c.915_917delinsCAG (p.Asn305=) c.*872_*874delinsCAG (n.*872_*874delinsCAG) c.942_944delinsCAG (p.Asn314=) | |
| 1 | g.244054717A= | CA1230659822 | ZBTB18 | c.*120A= (n.*120A=) c.916A= (p.Arg306=) c.*873A= (n.*873A=) c.943A= (p.Arg315=) | |
| 1 | g.244054717A>C | CA424411162 | ZBTB18 | c.*120A>C (n.*120A>C) c.916A>C (p.Arg306=) c.*873A>C (n.*873A>C) c.943A>C (p.Arg315=) | |
| 1 | g.244054717A>G | CA1484367 | ZBTB18 | c.*120A>G (n.*120A>G) c.916A>G (p.Arg306Gly) c.*873A>G (n.*873A>G) c.943A>G (p.Arg315Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.244054717A>T | CA345674033 | ZBTB18 | c.*120A>T (n.*120A>T) c.916A>T (p.Arg306Trp) c.*873A>T (n.*873A>T) c.943A>T (p.Arg315Trp) | |
| 1 | g.244054717_244054718del | CA645293936 | ZBTB18 | c.*120_*121del (n.*120_*121del) c.916_917del (p.Arg306GlyfsTer4) c.*873_*874del (n.*873_*874del) c.943_944del (p.Arg315GlyfsTer4) | ClinVar dbSNP |
| 1 | g.244054718G>A | CA345674035 | ZBTB18 | c.*121G>A (n.*121G>A) c.917G>A (p.Arg306Lys) c.*874G>A (n.*874G>A) c.944G>A (p.Arg315Lys) | |
| 1 | g.244054718G>C | CA345674036 | ZBTB18 | c.*121G>C (n.*121G>C) c.917G>C (p.Arg306Thr) c.*874G>C (n.*874G>C) c.944G>C (p.Arg315Thr) | |
| 1 | g.244054718G= | CA1230659823 | ZBTB18 | c.*121G= (n.*121G=) c.917G= (p.Arg306=) c.*874G= (n.*874G=) c.944G= (p.Arg315=) | |
| 1 | g.244054718G>T | CA345674034 | ZBTB18 | c.*121G>T (n.*121G>T) c.917G>T (p.Arg306Met) c.*874G>T (n.*874G>T) c.944G>T (p.Arg315Met) | dbSNP |
| 1 | g.244054719G>A | CA424411163 | ZBTB18 | c.*122G>A (n.*122G>A) c.918G>A (p.Arg306=) c.*875G>A (n.*875G>A) c.945G>A (p.Arg315=) | |
| 1 | g.244054719G>C | CA345674038 | ZBTB18 | c.*122G>C (n.*122G>C) c.918G>C (p.Arg306Ser) c.*875G>C (n.*875G>C) c.945G>C (p.Arg315Ser) | |
| 1 | g.244054719G>T | CA345674037 | ZBTB18 | c.*122G>T (n.*122G>T) c.918G>T (p.Arg306Ser) c.*875G>T (n.*875G>T) c.945G>T (p.Arg315Ser) | |
| 1 | g.244054720G>A | CA41081527 | ZBTB18 | c.*123G>A (n.*123G>A) c.919G>A (p.Val307Ile) c.*876G>A (n.*876G>A) c.946G>A (p.Val316Ile) | dbSNP gnomAD v4 |
| 1 | g.244054720G>C | CA345674039 | ZBTB18 | c.*123G>C (n.*123G>C) c.919G>C (p.Val307Leu) c.*876G>C (n.*876G>C) c.946G>C (p.Val316Leu) | |
| 1 | g.244054720G= | CA1230659824 | ZBTB18 | c.*123G= (n.*123G=) c.919G= (p.Val307=) c.*876G= (n.*876G=) c.946G= (p.Val316=) | |
| 1 | g.244054720G>T | CA345674040 | ZBTB18 | c.*123G>T (n.*123G>T) c.919G>T (p.Val307Leu) c.*876G>T (n.*876G>T) c.946G>T (p.Val316Leu) | dbSNP |
| 1 | g.244054721T>A | CA345674041 | ZBTB18 | c.*124T>A (n.*124T>A) c.920T>A (p.Val307Glu) c.*877T>A (n.*877T>A) c.947T>A (p.Val316Glu) | dbSNP |
| 1 | g.244054721T>C | CA345674042 | ZBTB18 | c.*124T>C (n.*124T>C) c.920T>C (p.Val307Ala) c.*877T>C (n.*877T>C) c.947T>C (p.Val316Ala) | |
| 1 | g.244054721T>G | CA345674043 | ZBTB18 | c.*124T>G (n.*124T>G) c.920T>G (p.Val307Gly) c.*877T>G (n.*877T>G) c.947T>G (p.Val316Gly) | |
| 1 | g.244054721T= | CA1230659825 | ZBTB18 | c.*124T= (n.*124T=) c.920T= (p.Val307=) c.*877T= (n.*877T=) c.947T= (p.Val316=) | |
| 1 | g.244054722A>C | CA424411164 | ZBTB18 | c.*125A>C (n.*125A>C) c.921A>C (p.Val307=) c.*878A>C (n.*878A>C) c.948A>C (p.Val316=) | |
| 1 | g.244054722A>G | CA424411165 | ZBTB18 | c.*125A>G (n.*125A>G) c.921A>G (p.Val307=) c.*878A>G (n.*878A>G) c.948A>G (p.Val316=) | COSMIC COSMIC |
| 1 | g.244054722A>T | CA424411166 | ZBTB18 | c.*125A>T (n.*125A>T) c.921A>T (p.Val307=) c.*878A>T (n.*878A>T) c.948A>T (p.Val316=) | |
| 1 | g.244054723C>A | CA345674044 | ZBTB18 | c.*126C>A (n.*126C>A) c.922C>A (p.Gln308Lys) c.*879C>A (n.*879C>A) c.949C>A (p.Gln317Lys) | |
| 1 | g.244054723C>G | CA345674045 | ZBTB18 | c.*126C>G (n.*126C>G) c.922C>G (p.Gln308Glu) c.*879C>G (n.*879C>G) c.949C>G (p.Gln317Glu) | |
| 1 | g.244054723C>T | CA345674046 | ZBTB18 | c.*126C>T (n.*126C>T) c.922C>T (p.Gln308Ter) c.*879C>T (n.*879C>T) c.949C>T (p.Gln317Ter) | |
| 1 | g.244054724A>C | CA345674047 | ZBTB18 | c.*127A>C (n.*127A>C) c.923A>C (p.Gln308Pro) c.*880A>C (n.*880A>C) c.950A>C (p.Gln317Pro) | |
| 1 | g.244054724A>G | CA345674048 | ZBTB18 | c.*127A>G (n.*127A>G) c.923A>G (p.Gln308Arg) c.*880A>G (n.*880A>G) c.950A>G (p.Gln317Arg) | |
| 1 | g.244054724A>T | CA345674049 | ZBTB18 | c.*127A>T (n.*127A>T) c.923A>T (p.Gln308Leu) c.*880A>T (n.*880A>T) c.950A>T (p.Gln317Leu) | |
| 1 | g.244054725G>A | CA424411167 | ZBTB18 | c.*128G>A (n.*128G>A) c.924G>A (p.Gln308=) c.*881G>A (n.*881G>A) c.951G>A (p.Gln317=) | |
| 1 | g.244054725G>C | CA345674051 | ZBTB18 | c.*128G>C (n.*128G>C) c.924G>C (p.Gln308His) c.*881G>C (n.*881G>C) c.951G>C (p.Gln317His) | |
| 1 | g.244054725G>T | CA345674050 | ZBTB18 | c.*128G>T (n.*128G>T) c.924G>T (p.Gln308His) c.*881G>T (n.*881G>T) c.951G>T (p.Gln317His) | |
| 1 | g.244054726T>A | CA345674052 | ZBTB18 | c.*129T>A (n.*129T>A) c.925T>A (p.Tyr309Asn) c.*882T>A (n.*882T>A) c.952T>A (p.Tyr318Asn) | gnomAD v4 |
| 1 | g.244054726T>C | CA345674053 | ZBTB18 | c.*129T>C (n.*129T>C) c.925T>C (p.Tyr309His) c.*882T>C (n.*882T>C) c.952T>C (p.Tyr318His) | |
| 1 | g.244054726T>G | CA345674054 | ZBTB18 | c.*129T>G (n.*129T>G) c.925T>G (p.Tyr309Asp) c.*882T>G (n.*882T>G) c.952T>G (p.Tyr318Asp) | |
| 1 | g.244054727A>C | CA345674055 | ZBTB18 | c.*130A>C (n.*130A>C) c.926A>C (p.Tyr309Ser) c.*883A>C (n.*883A>C) c.953A>C (p.Tyr318Ser) | |
| 1 | g.244054727A>G | CA345674056 | ZBTB18 | c.*130A>G (n.*130A>G) c.926A>G (p.Tyr309Cys) c.*883A>G (n.*883A>G) c.953A>G (p.Tyr318Cys) | gnomAD v4 |
| 1 | g.244054727A>T | CA345674057 | ZBTB18 | c.*130A>T (n.*130A>T) c.926A>T (p.Tyr309Phe) c.*883A>T (n.*883A>T) c.953A>T (p.Tyr318Phe) |