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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.112466078C>A | CA2666960679 | BTLA | c.*30G>T (n.*30G>T) n.404G>T | gnomAD v4 |
| 3 | g.112466078dup | CA2666960680 | BTLA | c.*30dup (n.*30dup) n.404dup | gnomAD v4 |
| 3 | g.112466079A>T | CA2666960681 | BTLA | c.*29T>A (n.*29T>A) n.403T>A | gnomAD v4 |
| 3 | g.112466080A= | CA1393855007 | BTLA | c.*28T= (n.*28T=) n.402T= | |
| 3 | g.112466080A>C | CA2581902147 | BTLA | c.*28T>G (n.*28T>G) n.402T>G | |
| 3 | g.112466080A>G | CA2539265 | BTLA | c.*28T>C (n.*28T>C) n.402T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.112466080A>T | CA1393855008 | BTLA | c.*28T>A (n.*28T>A) n.402T>A | dbSNP gnomAD v4 |
| 3 | g.112466080_112466081insG | CA2666960682 | BTLA | c.*27_*28insC (n.*27_*28insC) n.401_402insC | gnomAD v4 |
| 3 | g.112466082G>A | CA2539266 | BTLA | c.*26C>T (n.*26C>T) n.400C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.112466082G= | CA1393855009 | BTLA | c.*26C= (n.*26C=) n.400C= | |
| 3 | g.112466083G>T | CA2666960683 | BTLA | c.*25C>A (n.*25C>A) n.399C>A | gnomAD v4 |
| 3 | g.112466084T>C | CA2666960684 | BTLA | c.*24A>G (n.*24A>G) n.398A>G | gnomAD v4 |
| 3 | g.112466084_112466085delinsTC | CA1393855010 | BTLA | c.*23_*24delinsGA (n.*23_*24delinsGA) n.397_398delinsGA | |
| 3 | g.112466085C>A | CA2666960685 | BTLA | c.*23G>T (n.*23G>T) n.397G>T | gnomAD v4 |
| 3 | g.112466085C= | CA1393855011 | BTLA | c.*23G= (n.*23G=) n.397G= | |
| 3 | g.112466085C>G | CA2539267 | BTLA | c.*23G>C (n.*23G>C) n.397G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.112466085C>T | CA2539268 | BTLA | c.*23G>A (n.*23G>A) n.397G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.112466087dup | CA80753793 | BTLA | c.*23dup (n.*23dup) n.397dup | dbSNP |
| 3 | g.112466087del | CA897214250 | BTLA | c.*23del (n.*23del) n.397del | dbSNP gnomAD v4 |
| 3 | g.112466086C>A | CA2666960686 | BTLA | c.*22G>T (n.*22G>T) n.396G>T | gnomAD v4 |
| 3 | g.112466086C= | CA1393855012 | BTLA | c.*22G= (n.*22G=) n.396G= | |
| 3 | g.112466086C>T | CA1393855013 | BTLA | c.*22G>A (n.*22G>A) n.396G>A | dbSNP gnomAD v4 |
| 3 | g.112466087C>A | CA2539269 | BTLA | c.*21G>T (n.*21G>T) n.395G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.112466087C= | CA1393855014 | BTLA | c.*21G= (n.*21G=) n.395G= | |
| 3 | g.112466087C>T | CA897214259 | BTLA | c.*21G>A (n.*21G>A) n.395G>A | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.112466088T>C | CA2539270 | BTLA | c.*20A>G (n.*20A>G) n.394A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.112466088T= | CA1393855015 | BTLA | c.*20A= (n.*20A=) n.394A= | |
| 3 | g.112466090T>C | CA2539271 | BTLA | c.*18A>G (n.*18A>G) n.392A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.112466090T>G | CA2666960687 | BTLA | c.*18A>C (n.*18A>C) n.392A>C | gnomAD v4 |
| 3 | g.112466090T= | CA1393855016 | BTLA | c.*18A= (n.*18A=) n.392A= | |
| 3 | g.112466092G>A | CA2666960688 | BTLA | c.*16C>T (n.*16C>T) n.390C>T | gnomAD v4 |
| 3 | g.112466092G>T | CA2666960689 | BTLA | c.*16C>A (n.*16C>A) n.390C>A | gnomAD v4 |
| 3 | g.112466093G>T | CA2666960690 | BTLA | c.*15C>A (n.*15C>A) n.389C>A | gnomAD v4 |
| 3 | g.112466094A>C | CA2666960691 | BTLA | c.*14T>G (n.*14T>G) n.388T>G | gnomAD v4 |
| 3 | g.112466096T>C | CA2666960692 | BTLA | c.*12A>G (n.*12A>G) n.386A>G | gnomAD v4 |
| 3 | g.112466096T>G | CA2666960693 | BTLA | c.*12A>C (n.*12A>C) n.386A>C | gnomAD v4 |
| 3 | g.112466096dup | CA648227298 | BTLA | c.*12dup (n.*12dup) n.386dup | COSMIC |
| 3 | g.112466097C>A | CA2666960694 | BTLA | c.*11G>T (n.*11G>T) n.385G>T | gnomAD v4 |
| 3 | g.112466098A= | CA1393855017 | BTLA | c.*10T= (n.*10T=) n.384T= | |
| 3 | g.112466098A>G | CA1393855018 | BTLA | c.*10T>C (n.*10T>C) n.384T>C | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.112466099G>T | CA2666960695 | BTLA | c.*9C>A (n.*9C>A) n.383C>A | gnomAD v4 |
| 3 | g.112466101A>C | CA2577852107 | BTLA | c.*7T>G (n.*7T>G) n.381T>G | |
| 3 | g.112466101A>G | CA2666960696 | BTLA | c.*7T>C (n.*7T>C) n.381T>C | gnomAD v4 |
| 3 | g.112466102A>G | CA2666960697 | BTLA | c.*6T>C (n.*6T>C) n.380T>C | gnomAD v4 |
| 3 | g.112466103C>A | CA2666960698 | BTLA | c.*5G>T (n.*5G>T) n.379G>T | gnomAD v4 |
| 3 | g.112466103C= | CA1393855019 | BTLA | c.*5G= (n.*5G=) n.379G= | |
| 3 | g.112466103C>G | CA1393855020 | BTLA | c.*5G>C (n.*5G>C) n.379G>C | dbSNP gnomAD v4 |
| 3 | g.112466103C>T | CA897214262 | BTLA | c.*5G>A (n.*5G>A) n.379G>A | dbSNP |
| 3 | g.112466103dup | CA648227299 | BTLA | c.*5dup (n.*5dup) n.379dup | COSMIC |
| 3 | g.112466105G>A | CA2539272 | BTLA | c.*3C>T (n.*3C>T) n.377C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.112466105G= | CA1393855021 | BTLA | c.*3C= (n.*3C=) n.377C= | |
| 3 | g.112466105G>T | CA2666960699 | BTLA | c.*3C>A (n.*3C>A) n.377C>A | gnomAD v4 |
| 3 | g.112466105_112466110delinsGACTTA | CA1393855022 | BTLA | c.868_*3delinsTAAGTC (n.[c.868_*3delinsTAAGTC;Ter290=]) n.372_377delinsTAAGTC c.724_*3delinsTAAGTC (n.[c.724_*3delinsTAAGTC;Ter242=]) c.886_*3delinsTAAGTC (n.[c.886_*3delinsTAAGTC;Ter296=]) | |
| 3 | g.112466106A= | CA1393855023 | BTLA | c.*2T= (n.*2T=) n.376T= | |
| 3 | g.112466106A>G | CA545964121 | BTLA | c.*2T>C (n.*2T>C) n.376T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.112466109_112466113del | CA1052295277 | BTLA | c.868_*2del (n.[c.868_*2del;Ter290LeuextTer11]) n.372_376del c.724_*2del (n.[c.724_*2del;Ter242LeuextTer11]) c.886_*2del (n.[c.886_*2del;Ter296LeuextTer11]) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.112466107C>T | CA2666960700 | BTLA | c.*1G>A (n.*1G>A) n.375G>A | dbSNP gnomAD v4 |
| 3 | g.112466108T>A | CA353800889 | BTLA | c.870A>T (p.Ter290Tyr) c.726A>T (p.Ter242Tyr) n.374A>T c.888A>T (p.Ter296Tyr) | |
| 3 | g.112466108T>C | CA434970734 | BTLA | c.870A>G (p.Ter290=) c.726A>G (p.Ter242=) n.374A>G c.888A>G (p.Ter296=) | gnomAD v4 |
| 3 | g.112466108T>G | CA353800890 | BTLA | c.870A>C (p.Ter290Tyr) c.726A>C (p.Ter242Tyr) n.374A>C c.888A>C (p.Ter296Tyr) | |
| 3 | g.112466109T>A | CA353800891 | BTLA | c.869A>T (p.Ter290Leu) c.725A>T (p.Ter242Leu) n.373A>T c.887A>T (p.Ter296Leu) | |
| 3 | g.112466109T>C | CA434970736 | BTLA | c.869A>G (p.Ter290=) c.725A>G (p.Ter242=) n.373A>G c.887A>G (p.Ter296=) | |
| 3 | g.112466109T>G | CA353800892 | BTLA | c.869A>C (p.Ter290Ser) c.725A>C (p.Ter242Ser) n.373A>C c.887A>C (p.Ter296Ser) | gnomAD v4 |
| 3 | g.112466110A= | CA1393855024 | BTLA | c.868T= (p.Ter290=) c.724T= (p.Ter242=) n.372T= c.886T= (p.Ter296=) | |
| 3 | g.112466110A>C | CA353800893 | BTLA | c.868T>G (p.Ter290Glu) c.724T>G (p.Ter242Glu) n.372T>G c.886T>G (p.Ter296Glu) | gnomAD v4 |
| 3 | g.112466110A>G | CA353800894 | BTLA | c.868T>C (p.Ter290Gln) c.724T>C (p.Ter242Gln) n.372T>C c.886T>C (p.Ter296Gln) | |
| 3 | g.112466110A>T | CA2539273 | BTLA | c.868T>A (p.Ter290Lys) c.724T>A (p.Ter242Lys) n.372T>A c.886T>A (p.Ter296Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.112466110_112466111insGG | CA1052295288 | BTLA | c.867_868insCC (p.Ter290ProextTer12) c.723_724insCC (p.Ter242ProextTer?) n.371_372insCC c.723_724insCC (p.Ter242ProextTer12) c.885_886insCC (p.Ter296ProextTer12) | gnomAD v3 gnomAD v4 |
| 3 | g.112466111A>C | CA353800895 | BTLA | c.867T>G (p.Ser289Arg) c.723T>G (p.Ser241Arg) n.371T>G c.885T>G (p.Ser295Arg) | |
| 3 | g.112466111A>G | CA434970737 | BTLA | c.867T>C (p.Ser289=) c.723T>C (p.Ser241=) n.371T>C c.885T>C (p.Ser295=) | |
| 3 | g.112466111A>T | CA353800897 | BTLA | c.867T>A (p.Ser289Arg) c.723T>A (p.Ser241Arg) n.371T>A c.885T>A (p.Ser295Arg) | |
| 3 | g.112466112C>A | CA353800904 | BTLA | c.866G>T (p.Ser289Ile) c.722G>T (p.Ser241Ile) n.370G>T c.884G>T (p.Ser295Ile) | |
| 3 | g.112466112C>G | CA353800906 | BTLA | c.866G>C (p.Ser289Thr) c.722G>C (p.Ser241Thr) n.370G>C c.884G>C (p.Ser295Thr) | |
| 3 | g.112466112C>T | CA353800907 | BTLA | c.866G>A (p.Ser289Asn) c.722G>A (p.Ser241Asn) n.370G>A c.884G>A (p.Ser295Asn) | |
| 3 | g.112466113T>A | CA353800911 | BTLA | c.865A>T (p.Ser289Cys) c.721A>T (p.Ser241Cys) n.369A>T c.883A>T (p.Ser295Cys) | |
| 3 | g.112466113T>C | CA353800910 | BTLA | c.865A>G (p.Ser289Gly) c.721A>G (p.Ser241Gly) n.369A>G c.883A>G (p.Ser295Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.112466113T>G | CA353800909 | BTLA | c.865A>C (p.Ser289Arg) c.721A>C (p.Ser241Arg) n.369A>C c.883A>C (p.Ser295Arg) | |
| 3 | g.112466113T= | CA1393855025 | BTLA | c.865A= (p.Ser289=) c.721A= (p.Ser241=) n.369A= c.883A= (p.Ser295=) | |
| 3 | g.112466114C>A | CA353800913 | BTLA | c.864G>T (p.Arg288Ser) c.720G>T (p.Arg240Ser) n.368G>T c.882G>T (p.Arg294Ser) | gnomAD v4 |
| 3 | g.112466114C= | CA1393855026 | BTLA | c.864G= (p.Arg288=) c.720G= (p.Arg240=) n.368G= c.882G= (p.Arg294=) | |
| 3 | g.112466114C>G | CA353800916 | BTLA | c.864G>C (p.Arg288Ser) c.720G>C (p.Arg240Ser) n.368G>C c.882G>C (p.Arg294Ser) | dbSNP gnomAD v4 |
| 3 | g.112466114C>T | CA434970738 | BTLA | c.864G>A (p.Arg288=) c.720G>A (p.Arg240=) n.368G>A c.882G>A (p.Arg294=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.112466115C>A | CA353800918 | BTLA | c.863G>T (p.Arg288Met) c.719G>T (p.Arg240Met) n.367G>T c.881G>T (p.Arg294Met) | dbSNP gnomAD v4 |
| 3 | g.112466115C= | CA1393855027 | BTLA | c.863G= (p.Arg288=) c.719G= (p.Arg240=) n.367G= c.881G= (p.Arg294=) | |
| 3 | g.112466115C>G | CA353800920 | BTLA | c.863G>C (p.Arg288Thr) c.719G>C (p.Arg240Thr) n.367G>C c.881G>C (p.Arg294Thr) | |
| 3 | g.112466115C>T | CA353800922 | BTLA | c.863G>A (p.Arg288Lys) c.719G>A (p.Arg240Lys) n.367G>A c.881G>A (p.Arg294Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.112466116T>A | CA353800923 | BTLA | c.862A>T (p.Arg288Trp) c.718A>T (p.Arg240Trp) n.366A>T c.880A>T (p.Arg294Trp) | |
| 3 | g.112466116T>C | CA353800924 | BTLA | c.862A>G (p.Arg288Gly) c.718A>G (p.Arg240Gly) n.366A>G c.880A>G (p.Arg294Gly) | |
| 3 | g.112466116T>G | CA434970739 | BTLA | c.862A>C (p.Arg288=) c.718A>C (p.Arg240=) n.366A>C c.880A>C (p.Arg294=) | |
| 3 | g.112466116_112466117delinsTC | CA1393855028 | BTLA | c.861_862delinsGA (p.Val287=) c.717_718delinsGA (p.Val239=) n.365_366delinsGA c.879_880delinsGA (p.Val293=) | |
| 3 | g.112466117del | CA1393855029 | BTLA | c.861del (p.Arg288GlyfsTer13) c.717del (p.Arg240GlyfsTer?) n.365del c.717del (p.Arg240GlyfsTer13) c.879del (p.Arg294GlyfsTer13) | dbSNP |
| 3 | g.112466117C>A | CA434970740 | BTLA | c.861G>T (p.Val287=) c.717G>T (p.Val239=) n.365G>T c.879G>T (p.Val293=) | gnomAD v4 |
| 3 | g.112466117C= | CA1393855030 | BTLA | c.861G= (p.Val287=) c.717G= (p.Val239=) n.365G= c.879G= (p.Val293=) | |
| 3 | g.112466117C>G | CA434970741 | BTLA | c.861G>C (p.Val287=) c.717G>C (p.Val239=) n.365G>C c.879G>C (p.Val293=) | |
| 3 | g.112466117C>T | CA434970742 | BTLA | c.861G>A (p.Val287=) c.717G>A (p.Val239=) n.365G>A c.879G>A (p.Val293=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.112466118A= | CA1393855031 | BTLA | c.860T= (p.Val287=) c.716T= (p.Val239=) n.364T= c.878T= (p.Val293=) | |
| 3 | g.112466118A>C | CA353800925 | BTLA | c.860T>G (p.Val287Gly) c.716T>G (p.Val239Gly) n.364T>G c.878T>G (p.Val293Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.112466118A>G | CA2539274 | BTLA | c.860T>C (p.Val287Ala) c.716T>C (p.Val239Ala) n.364T>C c.878T>C (p.Val293Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.112466118A>T | CA353800927 | BTLA | c.860T>A (p.Val287Glu) c.716T>A (p.Val239Glu) n.364T>A c.878T>A (p.Val293Glu) | |
| 3 | g.112466119C>A | CA353800928 | BTLA | c.859G>T (p.Val287Leu) c.715G>T (p.Val239Leu) n.363G>T c.877G>T (p.Val293Leu) | gnomAD v4 |
| 3 | g.112466119C= | CA1393855032 | BTLA | c.859G= (p.Val287=) c.715G= (p.Val239=) n.363G= c.877G= (p.Val293=) | |
| 3 | g.112466119C>G | CA353800929 | BTLA | c.859G>C (p.Val287Leu) c.715G>C (p.Val239Leu) n.363G>C c.877G>C (p.Val293Leu) | |
| 3 | g.112466119C>T | CA353800930 | BTLA | c.859G>A (p.Val287Met) c.715G>A (p.Val239Met) n.363G>A c.877G>A (p.Val293Met) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.112466120A>C | CA353800931 | BTLA | c.858T>G (p.Cys286Trp) c.714T>G (p.Cys238Trp) n.362T>G c.876T>G (p.Cys292Trp) | |
| 3 | g.112466120A>G | CA434970743 | BTLA | c.858T>C (p.Cys286=) c.714T>C (p.Cys238=) n.362T>C c.876T>C (p.Cys292=) | |
| 3 | g.112466120A>T | CA353800932 | BTLA | c.858T>A (p.Cys286Ter) c.714T>A (p.Cys238Ter) n.362T>A c.876T>A (p.Cys292Ter) | |
| 3 | g.112466121C>A | CA353800935 | BTLA | c.857G>T (p.Cys286Phe) c.713G>T (p.Cys238Phe) n.361G>T c.875G>T (p.Cys292Phe) | |
| 3 | g.112466121C>G | CA353800941 | BTLA | c.857G>C (p.Cys286Ser) c.713G>C (p.Cys238Ser) n.361G>C c.875G>C (p.Cys292Ser) | |
| 3 | g.112466121C>T | CA353800943 | BTLA | c.857G>A (p.Cys286Tyr) c.713G>A (p.Cys238Tyr) n.361G>A c.875G>A (p.Cys292Tyr) | |
| 3 | g.112466122A= | CA1393855033 | BTLA | c.856T= (p.Cys286=) c.712T= (p.Cys238=) n.360T= c.874T= (p.Cys292=) | |
| 3 | g.112466122A>C | CA353800946 | BTLA | c.856T>G (p.Cys286Gly) c.712T>G (p.Cys238Gly) n.360T>G c.874T>G (p.Cys292Gly) | |
| 3 | g.112466122A>G | CA353800947 | BTLA | c.856T>C (p.Cys286Arg) c.712T>C (p.Cys238Arg) n.360T>C c.874T>C (p.Cys292Arg) | dbSNP gnomAD v4 |
| 3 | g.112466122A>T | CA353800949 | BTLA | c.856T>A (p.Cys286Ser) c.712T>A (p.Cys238Ser) n.360T>A c.874T>A (p.Cys292Ser) | |
| 3 | g.112466123T>A | CA434970744 | BTLA | c.855A>T (p.Ile285=) c.711A>T (p.Ile237=) n.359A>T c.873A>T (p.Ile291=) | |
| 3 | g.112466123T>C | CA2539275 | BTLA | c.855A>G (p.Ile285Met) c.711A>G (p.Ile237Met) n.359A>G c.873A>G (p.Ile291Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.112466123T>G | CA434970745 | BTLA | c.855A>C (p.Ile285=) c.711A>C (p.Ile237=) n.359A>C c.873A>C (p.Ile291=) | |
| 3 | g.112466123T= | CA1393855034 | BTLA | c.855A= (p.Ile285=) c.711A= (p.Ile237=) n.359A= c.873A= (p.Ile291=) | |
| 3 | g.112466124A>C | CA353800953 | BTLA | c.854T>G (p.Ile285Arg) c.710T>G (p.Ile237Arg) n.358T>G c.872T>G (p.Ile291Arg) | |
| 3 | g.112466124A>G | CA353800955 | BTLA | c.854T>C (p.Ile285Thr) c.710T>C (p.Ile237Thr) n.358T>C c.872T>C (p.Ile291Thr) | |
| 3 | g.112466124A>T | CA353800954 | BTLA | c.854T>A (p.Ile285Lys) c.710T>A (p.Ile237Lys) n.358T>A c.872T>A (p.Ile291Lys) | |
| 3 | g.112466125T>A | CA353800956 | BTLA | c.853A>T (p.Ile285Leu) c.709A>T (p.Ile237Leu) n.357A>T c.871A>T (p.Ile291Leu) | |
| 3 | g.112466125T>C | CA353800957 | BTLA | c.853A>G (p.Ile285Val) c.709A>G (p.Ile237Val) n.357A>G c.871A>G (p.Ile291Val) | gnomAD v4 |
| 3 | g.112466125T>G | CA353800958 | BTLA | c.853A>C (p.Ile285Leu) c.709A>C (p.Ile237Leu) n.357A>C c.871A>C (p.Ile291Leu) | |
| 3 | g.112466126G>A | CA434970746 | BTLA | c.852C>T (p.Ser284=) c.708C>T (p.Ser236=) n.356C>T c.870C>T (p.Ser290=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.112466126G>C | CA434970747 | BTLA | c.852C>G (p.Ser284=) c.708C>G (p.Ser236=) n.356C>G c.870C>G (p.Ser290=) | |
| 3 | g.112466126G= | CA1393855035 | BTLA | c.852C= (p.Ser284=) c.708C= (p.Ser236=) n.356C= c.870C= (p.Ser290=) | |
| 3 | g.112466126G>T | CA434970748 | BTLA | c.852C>A (p.Ser284=) c.708C>A (p.Ser236=) n.356C>A c.870C>A (p.Ser290=) | |
| 3 | g.112466127G>A | CA353800960 | BTLA | c.851C>T (p.Ser284Phe) c.707C>T (p.Ser236Phe) n.355C>T c.869C>T (p.Ser290Phe) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.112466127G>C | CA353800962 | BTLA | c.851C>G (p.Ser284Cys) c.707C>G (p.Ser236Cys) n.355C>G c.869C>G (p.Ser290Cys) | |
| 3 | g.112466127G= | CA1393855036 | BTLA | c.851C= (p.Ser284=) c.707C= (p.Ser236=) n.355C= c.869C= (p.Ser290=) | |
| 3 | g.112466127G>T | CA353800964 | BTLA | c.851C>A (p.Ser284Tyr) c.707C>A (p.Ser236Tyr) n.355C>A c.869C>A (p.Ser290Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.112466128A>C | CA353800966 | BTLA | c.850T>G (p.Ser284Ala) c.706T>G (p.Ser236Ala) n.354T>G c.868T>G (p.Ser290Ala) | |
| 3 | g.112466128A>G | CA353800967 | BTLA | c.850T>C (p.Ser284Pro) c.706T>C (p.Ser236Pro) n.354T>C c.868T>C (p.Ser290Pro) | |
| 3 | g.112466128A>T | CA353800969 | BTLA | c.850T>A (p.Ser284Thr) c.706T>A (p.Ser236Thr) n.354T>A c.868T>A (p.Ser290Thr) | |
| 3 | g.112466129T>A | CA434970749 | BTLA | c.849A>T (p.Ala283=) c.705A>T (p.Ala235=) n.353A>T c.867A>T (p.Ala289=) | |
| 3 | g.112466129T>C | CA434970750 | BTLA | c.849A>G (p.Ala283=) c.705A>G (p.Ala235=) n.353A>G c.867A>G (p.Ala289=) | gnomAD v4 |
| 3 | g.112466129T>G | CA434970751 | BTLA | c.849A>C (p.Ala283=) c.705A>C (p.Ala235=) n.353A>C c.867A>C (p.Ala289=) | |
| 3 | g.112466130G>A | CA353800971 | BTLA | c.848C>T (p.Ala283Val) c.704C>T (p.Ala235Val) n.352C>T c.866C>T (p.Ala289Val) | gnomAD v4 |
| 3 | g.112466130G>C | CA353800978 | BTLA | c.848C>G (p.Ala283Gly) c.704C>G (p.Ala235Gly) n.352C>G c.866C>G (p.Ala289Gly) | |
| 3 | g.112466130G>T | CA353800980 | BTLA | c.848C>A (p.Ala283Glu) c.704C>A (p.Ala235Glu) n.352C>A c.866C>A (p.Ala289Glu) | gnomAD v4 |
| 3 | g.112466131C>A | CA353800986 | BTLA | c.847G>T (p.Ala283Ser) c.703G>T (p.Ala235Ser) n.351G>T c.865G>T (p.Ala289Ser) | |
| 3 | g.112466131C>G | CA353800985 | BTLA | c.847G>C (p.Ala283Pro) c.703G>C (p.Ala235Pro) n.351G>C c.865G>C (p.Ala289Pro) | |
| 3 | g.112466131C>T | CA353800984 | BTLA | c.847G>A (p.Ala283Thr) c.703G>A (p.Ala235Thr) n.351G>A c.865G>A (p.Ala289Thr) | gnomAD v4 |
| 3 | g.112466132A>C | CA353800987 | BTLA | c.846T>G (p.Tyr282Ter) c.702T>G (p.Tyr234Ter) n.350T>G c.864T>G (p.Tyr288Ter) | |
| 3 | g.112466132A>G | CA434970753 | BTLA | c.846T>C (p.Tyr282=) c.702T>C (p.Tyr234=) n.350T>C c.864T>C (p.Tyr288=) | |
| 3 | g.112466132A>T | CA353800988 | BTLA | c.846T>A (p.Tyr282Ter) c.702T>A (p.Tyr234Ter) n.350T>A c.864T>A (p.Tyr288Ter) | |
| 3 | g.112466133T>A | CA353800990 | BTLA | c.845A>T (p.Tyr282Phe) c.701A>T (p.Tyr234Phe) n.349A>T c.863A>T (p.Tyr288Phe) | |
| 3 | g.112466133T>C | CA353800991 | BTLA | c.845A>G (p.Tyr282Cys) c.701A>G (p.Tyr234Cys) n.349A>G c.863A>G (p.Tyr288Cys) | |
| 3 | g.112466133T>G | CA353800994 | BTLA | c.845A>C (p.Tyr282Ser) c.701A>C (p.Tyr234Ser) n.349A>C c.863A>C (p.Tyr288Ser) | |
| 3 | g.112466134A>C | CA353800995 | BTLA | c.844T>G (p.Tyr282Asp) c.700T>G (p.Tyr234Asp) n.348T>G c.862T>G (p.Tyr288Asp) | |
| 3 | g.112466134A>G | CA353800996 | BTLA | c.844T>C (p.Tyr282His) c.700T>C (p.Tyr234His) n.348T>C c.862T>C (p.Tyr288His) | |
| 3 | g.112466134A>T | CA353800997 | BTLA | c.844T>A (p.Tyr282Asn) c.700T>A (p.Tyr234Asn) n.348T>A c.862T>A (p.Tyr288Asn) | |
| 3 | g.112466135T>A | CA353800998 | BTLA | c.843A>T (p.Glu281Asp) c.699A>T (p.Glu233Asp) n.347A>T c.861A>T (p.Glu287Asp) | |
| 3 | g.112466135T>C | CA434970754 | BTLA | c.843A>G (p.Glu281=) c.699A>G (p.Glu233=) n.347A>G c.861A>G (p.Glu287=) | |
| 3 | g.112466135T>G | CA353800999 | BTLA | c.843A>C (p.Glu281Asp) c.699A>C (p.Glu233Asp) n.347A>C c.861A>C (p.Glu287Asp) | |
| 3 | g.112466136T>A | CA353801000 | BTLA | c.842A>T (p.Glu281Val) c.698A>T (p.Glu233Val) n.346A>T c.860A>T (p.Glu287Val) | |
| 3 | g.112466136T>C | CA353801001 | BTLA | c.842A>G (p.Glu281Gly) c.698A>G (p.Glu233Gly) n.346A>G c.860A>G (p.Glu287Gly) | |
| 3 | g.112466136T>G | CA353801003 | BTLA | c.842A>C (p.Glu281Ala) c.698A>C (p.Glu233Ala) n.346A>C c.860A>C (p.Glu287Ala) | |
| 3 | g.112466137C>A | CA353801008 | BTLA | c.841G>T (p.Glu281Ter) c.697G>T (p.Glu233Ter) n.345G>T c.859G>T (p.Glu287Ter) | gnomAD v4 |
| 3 | g.112466137C>G | CA353801010 | BTLA | c.841G>C (p.Glu281Gln) c.697G>C (p.Glu233Gln) n.345G>C c.859G>C (p.Glu287Gln) | |
| 3 | g.112466137C>T | CA353801006 | BTLA | c.841G>A (p.Glu281Lys) c.697G>A (p.Glu233Lys) n.345G>A c.859G>A (p.Glu287Lys) | |
| 3 | g.112466138T>A | CA434970755 | BTLA | c.840A>T (p.Thr280=) c.696A>T (p.Thr232=) n.344A>T c.858A>T (p.Thr286=) | |
| 3 | g.112466138T>C | CA434970756 | BTLA | c.840A>G (p.Thr280=) c.696A>G (p.Thr232=) n.344A>G c.858A>G (p.Thr286=) | gnomAD v4 |
| 3 | g.112466138T>G | CA434970757 | BTLA | c.840A>C (p.Thr280=) c.696A>C (p.Thr232=) n.344A>C c.858A>C (p.Thr286=) | |
| 3 | g.112466139G>A | CA353801015 | BTLA | c.839C>T (p.Thr280Ile) c.695C>T (p.Thr232Ile) n.343C>T c.857C>T (p.Thr286Ile) | |
| 3 | g.112466139G>C | CA353801013 | BTLA | c.839C>G (p.Thr280Arg) c.695C>G (p.Thr232Arg) n.343C>G c.857C>G (p.Thr286Arg) | |
| 3 | g.112466139G>T | CA353801017 | BTLA | c.839C>A (p.Thr280Lys) c.695C>A (p.Thr232Lys) n.343C>A c.857C>A (p.Thr286Lys) | |
| 3 | g.112466140T>A | CA353801023 | BTLA | c.838A>T (p.Thr280Ser) c.694A>T (p.Thr232Ser) n.342A>T c.856A>T (p.Thr286Ser) | |
| 3 | g.112466140T>C | CA353801029 | BTLA | c.838A>G (p.Thr280Ala) c.694A>G (p.Thr232Ala) n.342A>G c.856A>G (p.Thr286Ala) | |
| 3 | g.112466140T>G | CA353801027 | BTLA | c.838A>C (p.Thr280Pro) c.694A>C (p.Thr232Pro) n.342A>C c.856A>C (p.Thr286Pro) | |
| 3 | g.112466141T>A | CA434970758 | BTLA | c.837A>T (p.Pro279=) c.693A>T (p.Pro231=) n.341A>T c.855A>T (p.Pro285=) | |
| 3 | g.112466141T>C | CA434970759 | BTLA | c.837A>G (p.Pro279=) c.693A>G (p.Pro231=) n.341A>G c.855A>G (p.Pro285=) | gnomAD v4 |
| 3 | g.112466141T>G | CA434970760 | BTLA | c.837A>C (p.Pro279=) c.693A>C (p.Pro231=) n.341A>C c.855A>C (p.Pro285=) | |
| 3 | g.112466142G>A | CA353801031 | BTLA | c.836C>T (p.Pro279Leu) c.692C>T (p.Pro231Leu) n.340C>T c.854C>T (p.Pro285Leu) | |
| 3 | g.112466142G>C | CA353801034 | BTLA | c.836C>G (p.Pro279Arg) c.692C>G (p.Pro231Arg) n.340C>G c.854C>G (p.Pro285Arg) | |
| 3 | g.112466142G>T | CA353801033 | BTLA | c.836C>A (p.Pro279Gln) c.692C>A (p.Pro231Gln) n.340C>A c.854C>A (p.Pro285Gln) | |
| 3 | g.112466143G>A | CA353801035 | BTLA | c.835C>T (p.Pro279Ser) c.691C>T (p.Pro231Ser) n.339C>T c.853C>T (p.Pro285Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.112466143G>C | CA353801036 | BTLA | c.835C>G (p.Pro279Ala) c.691C>G (p.Pro231Ala) n.339C>G c.853C>G (p.Pro285Ala) | |
| 3 | g.112466143G= | CA1393855037 | BTLA | c.835C= (p.Pro279=) c.691C= (p.Pro231=) n.339C= c.853C= (p.Pro285=) | |
| 3 | g.112466143G>T | CA353801037 | BTLA | c.835C>A (p.Pro279Thr) c.691C>A (p.Pro231Thr) n.339C>A c.853C>A (p.Pro285Thr) | gnomAD v4 |
| 3 | g.112466144T>A | CA434970761 | BTLA | c.834A>T (p.Ala278=) c.690A>T (p.Ala230=) n.338A>T c.852A>T (p.Ala284=) | |
| 3 | g.112466144T>C | CA434970762 | BTLA | c.834A>G (p.Ala278=) c.690A>G (p.Ala230=) n.338A>G c.852A>G (p.Ala284=) | |
| 3 | g.112466144T>G | CA2539276 | BTLA | c.834A>C (p.Ala278=) c.690A>C (p.Ala230=) n.338A>C c.852A>C (p.Ala284=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.112466144T= | CA1393855038 | BTLA | c.834A= (p.Ala278=) c.690A= (p.Ala230=) n.338A= c.852A= (p.Ala284=) | |
| 3 | g.112466145G>A | CA353801039 | BTLA | c.833C>T (p.Ala278Val) c.689C>T (p.Ala230Val) n.337C>T c.851C>T (p.Ala284Val) | gnomAD v4 |
| 3 | g.112466145G>C | CA353801041 | BTLA | c.833C>G (p.Ala278Gly) c.689C>G (p.Ala230Gly) n.337C>G c.851C>G (p.Ala284Gly) | gnomAD v4 |
| 3 | g.112466145G= | CA1393855039 | BTLA | c.833C= (p.Ala278=) c.689C= (p.Ala230=) n.337C= c.851C= (p.Ala284=) | |
| 3 | g.112466145G>T | CA353801044 | BTLA | c.833C>A (p.Ala278Glu) c.689C>A (p.Ala230Glu) n.337C>A c.851C>A (p.Ala284Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.112466146C>A | CA353801046 | BTLA | c.832G>T (p.Ala278Ser) c.688G>T (p.Ala230Ser) n.336G>T c.850G>T (p.Ala284Ser) | |
| 3 | g.112466146C>G | CA353801047 | BTLA | c.832G>C (p.Ala278Pro) c.688G>C (p.Ala230Pro) n.336G>C c.850G>C (p.Ala284Pro) | |
| 3 | g.112466146C>T | CA353801048 | BTLA | c.832G>A (p.Ala278Thr) c.688G>A (p.Ala230Thr) n.336G>A c.850G>A (p.Ala284Thr) | gnomAD v4 |
| 3 | g.112466147T>A | CA353801050 | BTLA | c.831A>T (p.Glu277Asp) c.687A>T (p.Glu229Asp) n.335A>T c.849A>T (p.Glu283Asp) | |
| 3 | g.112466147T>C | CA434970763 | BTLA | c.831A>G (p.Glu277=) c.687A>G (p.Glu229=) n.335A>G c.849A>G (p.Glu283=) | |
| 3 | g.112466147T>G | CA353801049 | BTLA | c.831A>C (p.Glu277Asp) c.687A>C (p.Glu229Asp) n.335A>C c.849A>C (p.Glu283Asp) | |
| 3 | g.112466148T>A | CA353801052 | BTLA | c.830A>T (p.Glu277Val) c.686A>T (p.Glu229Val) n.334A>T c.848A>T (p.Glu283Val) | |
| 3 | g.112466148T>C | CA353801054 | BTLA | c.830A>G (p.Glu277Gly) c.686A>G (p.Glu229Gly) n.334A>G c.848A>G (p.Glu283Gly) | |
| 3 | g.112466148T>G | CA353801056 | BTLA | c.830A>C (p.Glu277Ala) c.686A>C (p.Glu229Ala) n.334A>C c.848A>C (p.Glu283Ala) | |
| 3 | g.112466149C>A | CA353801057 | BTLA | c.829G>T (p.Glu277Ter) c.685G>T (p.Glu229Ter) n.333G>T c.847G>T (p.Glu283Ter) | |
| 3 | g.112466149C>G | CA353801059 | BTLA | c.829G>C (p.Glu277Gln) c.685G>C (p.Glu229Gln) n.333G>C c.847G>C (p.Glu283Gln) | |
| 3 | g.112466149C>T | CA353801061 | BTLA | c.829G>A (p.Glu277Lys) c.685G>A (p.Glu229Lys) n.333G>A c.847G>A (p.Glu283Lys) | |
| 3 | g.112466150T>A | CA353801062 | BTLA | c.828A>T (p.Lys276Asn) c.684A>T (p.Lys228Asn) n.332A>T c.846A>T (p.Lys282Asn) | |
| 3 | g.112466150T>C | CA434970764 | BTLA | c.828A>G (p.Lys276=) c.684A>G (p.Lys228=) n.332A>G c.846A>G (p.Lys282=) | gnomAD v4 |
| 3 | g.112466150T>G | CA353801063 | BTLA | c.828A>C (p.Lys276Asn) c.684A>C (p.Lys228Asn) n.332A>C c.846A>C (p.Lys282Asn) | |
| 3 | g.112466151T>A | CA353801064 | BTLA | c.827A>T (p.Lys276Ile) c.683A>T (p.Lys228Ile) n.331A>T c.845A>T (p.Lys282Ile) | |
| 3 | g.112466151T>C | CA353801065 | BTLA | c.827A>G (p.Lys276Arg) c.683A>G (p.Lys228Arg) n.331A>G c.845A>G (p.Lys282Arg) | |
| 3 | g.112466151T>G | CA353801067 | BTLA | c.827A>C (p.Lys276Thr) c.683A>C (p.Lys228Thr) n.331A>C c.845A>C (p.Lys282Thr) | |
| 3 | g.112466152T>A | CA353801072 | BTLA | c.826A>T (p.Lys276Ter) c.682A>T (p.Lys228Ter) n.330A>T c.844A>T (p.Lys282Ter) | |
| 3 | g.112466152T>C | CA353801073 | BTLA | c.826A>G (p.Lys276Glu) c.682A>G (p.Lys228Glu) n.330A>G c.844A>G (p.Lys282Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.112466152T>G | CA353801070 | BTLA | c.826A>C (p.Lys276Gln) c.682A>C (p.Lys228Gln) n.330A>C c.844A>C (p.Lys282Gln) | dbSNP gnomAD v4 |
| 3 | g.112466152T= | CA1393855040 | BTLA | c.826A= (p.Lys276=) c.682A= (p.Lys228=) n.330A= c.844A= (p.Lys282=) | |
| 3 | g.112466153T>A | CA434970765 | BTLA | c.825A>T (p.Val275=) c.681A>T (p.Val227=) n.329A>T c.843A>T (p.Val281=) | |
| 3 | g.112466153T>C | CA434970766 | BTLA | c.825A>G (p.Val275=) c.681A>G (p.Val227=) n.329A>G c.843A>G (p.Val281=) | dbSNP |
| 3 | g.112466153T>G | CA434970767 | BTLA | c.825A>C (p.Val275=) c.681A>C (p.Val227=) n.329A>C c.843A>C (p.Val281=) | |
| 3 | g.112466153T= | CA1393855041 | BTLA | c.825A= (p.Val275=) c.681A= (p.Val227=) n.329A= c.843A= (p.Val281=) | |
| 3 | g.112466154A= | CA1393855042 | BTLA | c.824T= (p.Val275=) c.680T= (p.Val227=) n.328T= c.842T= (p.Val281=) | |
| 3 | g.112466154A>C | CA353801074 | BTLA | c.824T>G (p.Val275Gly) c.680T>G (p.Val227Gly) n.328T>G c.842T>G (p.Val281Gly) | |
| 3 | g.112466154A>G | CA353801075 | BTLA | c.824T>C (p.Val275Ala) c.680T>C (p.Val227Ala) n.328T>C c.842T>C (p.Val281Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.112466154A>T | CA353801077 | BTLA | c.824T>A (p.Val275Glu) c.680T>A (p.Val227Glu) n.328T>A c.842T>A (p.Val281Glu) | |
| 3 | g.112466154_112466155insAGA | CA2666960701 | BTLA | c.824_825insCTT (p.Val275_Lys276insLeu) c.680_681insCTT (p.Val227_Lys228insLeu) n.328_329insCTT c.842_843insCTT (p.Val281_Lys282insLeu) | gnomAD v4 |
| 3 | g.112466155C>A | CA353801080 | BTLA | c.823G>T (p.Val275Leu) c.679G>T (p.Val227Leu) n.327G>T c.841G>T (p.Val281Leu) | gnomAD v4 COSMIC |
| 3 | g.112466155C>G | CA353801082 | BTLA | c.823G>C (p.Val275Leu) c.679G>C (p.Val227Leu) n.327G>C c.841G>C (p.Val281Leu) | |
| 3 | g.112466155C>T | CA353801085 | BTLA | c.823G>A (p.Val275Ile) c.679G>A (p.Val227Ile) n.327G>A c.841G>A (p.Val281Ile) | |
| 3 | g.112466156A= | CA1393855043 | BTLA | c.822T= (p.Asn274=) c.678T= (p.Asn226=) n.326T= c.840T= (p.Asn280=) | |
| 3 | g.112466156A>C | CA353801087 | BTLA | c.822T>G (p.Asn274Lys) c.678T>G (p.Asn226Lys) n.326T>G c.840T>G (p.Asn280Lys) | |
| 3 | g.112466156A>G | CA434970768 | BTLA | c.822T>C (p.Asn274=) c.678T>C (p.Asn226=) n.326T>C c.840T>C (p.Asn280=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.112466156A>T | CA353801088 | BTLA | c.822T>A (p.Asn274Lys) c.678T>A (p.Asn226Lys) n.326T>A c.840T>A (p.Asn280Lys) | |
| 3 | g.112466157T>A | CA353801092 | BTLA | c.821A>T (p.Asn274Ile) c.677A>T (p.Asn226Ile) n.325A>T c.839A>T (p.Asn280Ile) | |
| 3 | g.112466157T>C | CA353801095 | BTLA | c.821A>G (p.Asn274Ser) c.677A>G (p.Asn226Ser) n.325A>G c.839A>G (p.Asn280Ser) | |
| 3 | g.112466157T>G | CA353801097 | BTLA | c.821A>C (p.Asn274Thr) c.677A>C (p.Asn226Thr) n.325A>C c.839A>C (p.Asn280Thr) | |
| 3 | g.112466158T>A | CA353801104 | BTLA | c.820A>T (p.Asn274Tyr) c.676A>T (p.Asn226Tyr) n.324A>T c.838A>T (p.Asn280Tyr) | |
| 3 | g.112466158T>C | CA353801106 | BTLA | c.820A>G (p.Asn274Asp) c.676A>G (p.Asn226Asp) n.324A>G c.838A>G (p.Asn280Asp) | |
| 3 | g.112466158T>G | CA353801102 | BTLA | c.820A>C (p.Asn274His) c.676A>C (p.Asn226His) n.324A>C c.838A>C (p.Asn280His) | gnomAD v4 |
| 3 | g.112466159T>A | CA353801108 | BTLA | c.819A>T (p.Arg273Ser) c.675A>T (p.Arg225Ser) n.323A>T c.837A>T (p.Arg279Ser) | |
| 3 | g.112466159T>C | CA434970769 | BTLA | c.819A>G (p.Arg273=) c.675A>G (p.Arg225=) n.323A>G c.837A>G (p.Arg279=) | |
| 3 | g.112466159T>G | CA353801110 | BTLA | c.819A>C (p.Arg273Ser) c.675A>C (p.Arg225Ser) n.323A>C c.837A>C (p.Arg279Ser) | |
| 3 | g.112466160C>A | CA353801112 | BTLA | c.818G>T (p.Arg273Ile) c.674G>T (p.Arg225Ile) n.322G>T c.836G>T (p.Arg279Ile) | |
| 3 | g.112466160C>G | CA353801114 | BTLA | c.818G>C (p.Arg273Thr) c.674G>C (p.Arg225Thr) n.322G>C c.836G>C (p.Arg279Thr) | |
| 3 | g.112466160C>T | CA353801116 | BTLA | c.818G>A (p.Arg273Lys) c.674G>A (p.Arg225Lys) n.322G>A c.836G>A (p.Arg279Lys) | COSMIC |
| 3 | g.112466160_112466165del | CA2666960702 | BTLA | c.813_818del (p.Ala272_Arg273del) c.669_674del (p.Ala224_Arg225del) n.317_322del c.831_836del (p.Ala278_Arg279del) | gnomAD v4 |
| 3 | g.112466161T>A | CA353801122 | BTLA | c.817A>T (p.Arg273Ter) c.673A>T (p.Arg225Ter) n.321A>T c.835A>T (p.Arg279Ter) | |
| 3 | g.112466161T>C | CA353801119 | BTLA | c.817A>G (p.Arg273Gly) c.673A>G (p.Arg225Gly) n.321A>G c.835A>G (p.Arg279Gly) | |
| 3 | g.112466161T>G | CA2539277 | BTLA | c.817A>C (p.Arg273=) c.673A>C (p.Arg225=) n.321A>C c.835A>C (p.Arg279=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.112466161T= | CA1393855044 | BTLA | c.817A= (p.Arg273=) c.673A= (p.Arg225=) n.321A= c.835A= (p.Arg279=) | |
| 3 | g.112466162T>A | CA434970770 | BTLA | c.816A>T (p.Ala272=) c.672A>T (p.Ala224=) n.320A>T c.834A>T (p.Ala278=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.112466162T>C | CA434970772 | BTLA | c.816A>G (p.Ala272=) c.672A>G (p.Ala224=) n.320A>G c.834A>G (p.Ala278=) | |
| 3 | g.112466162T>G | CA434970771 | BTLA | c.816A>C (p.Ala272=) c.672A>C (p.Ala224=) n.320A>C c.834A>C (p.Ala278=) | |
| 3 | g.112466162T= | CA1393855045 | BTLA | c.816A= (p.Ala272=) c.672A= (p.Ala224=) n.320A= c.834A= (p.Ala278=) | |
| 3 | g.112466163G>A | CA353801124 | BTLA | c.815C>T (p.Ala272Val) c.671C>T (p.Ala224Val) n.319C>T c.833C>T (p.Ala278Val) | |
| 3 | g.112466163G>C | CA353801127 | BTLA | c.815C>G (p.Ala272Gly) c.671C>G (p.Ala224Gly) n.319C>G c.833C>G (p.Ala278Gly) | |
| 3 | g.112466163G>T | CA353801129 | BTLA | c.815C>A (p.Ala272Glu) c.671C>A (p.Ala224Glu) n.319C>A c.833C>A (p.Ala278Glu) | |
| 3 | g.112466164C>A | CA353801132 | BTLA | c.814G>T (p.Ala272Ser) c.670G>T (p.Ala224Ser) n.318G>T c.832G>T (p.Ala278Ser) | gnomAD v4 |
| 3 | g.112466164C= | CA1393855046 | BTLA | c.814G= (p.Ala272=) c.670G= (p.Ala224=) n.318G= c.832G= (p.Ala278=) | |
| 3 | g.112466164C>G | CA353801134 | BTLA | c.814G>C (p.Ala272Pro) c.670G>C (p.Ala224Pro) n.318G>C c.832G>C (p.Ala278Pro) | |
| 3 | g.112466164C>T | CA353801136 | BTLA | c.814G>A (p.Ala272Thr) c.670G>A (p.Ala224Thr) n.318G>A c.832G>A (p.Ala278Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.112466165C>A | CA434970773 | BTLA | c.813G>T (p.Leu271=) c.669G>T (p.Leu223=) n.317G>T c.831G>T (p.Leu277=) | gnomAD v4 |
| 3 | g.112466165C>G | CA434970774 | BTLA | c.813G>C (p.Leu271=) c.669G>C (p.Leu223=) n.317G>C c.831G>C (p.Leu277=) | |
| 3 | g.112466165C>T | CA434970775 | BTLA | c.813G>A (p.Leu271=) c.669G>A (p.Leu223=) n.317G>A c.831G>A (p.Leu277=) | |
| 3 | g.112466166A>C | CA353801147 | BTLA | c.812T>G (p.Leu271Arg) c.668T>G (p.Leu223Arg) n.316T>G c.830T>G (p.Leu277Arg) | |
| 3 | g.112466166A>G | CA353801155 | BTLA | c.812T>C (p.Leu271Pro) c.668T>C (p.Leu223Pro) n.316T>C c.830T>C (p.Leu277Pro) | |
| 3 | g.112466166A>T | CA353801145 | BTLA | c.812T>A (p.Leu271Gln) c.668T>A (p.Leu223Gln) n.316T>A c.830T>A (p.Leu277Gln) | |
| 3 | g.112466167G>A | CA434970776 | BTLA | c.811C>T (p.Leu271=) c.667C>T (p.Leu223=) n.315C>T c.829C>T (p.Leu277=) | |
| 3 | g.112466167G>C | CA353801157 | BTLA | c.811C>G (p.Leu271Val) c.667C>G (p.Leu223Val) n.315C>G c.829C>G (p.Leu277Val) | gnomAD v4 |
| 3 | g.112466167G>T | CA353801167 | BTLA | c.811C>A (p.Leu271Met) c.667C>A (p.Leu223Met) n.315C>A c.829C>A (p.Leu277Met) | |
| 3 | g.112466168T>A | CA353801169 | BTLA | c.810A>T (p.Arg270Ser) c.666A>T (p.Arg222Ser) n.314A>T c.828A>T (p.Arg276Ser) | |
| 3 | g.112466168T>C | CA434970777 | BTLA | c.810A>G (p.Arg270=) c.666A>G (p.Arg222=) n.314A>G c.828A>G (p.Arg276=) | |
| 3 | g.112466168T>G | CA353801171 | BTLA | c.810A>C (p.Arg270Ser) c.666A>C (p.Arg222Ser) n.314A>C c.828A>C (p.Arg276Ser) | |
| 3 | g.112466169C>A | CA353801172 | BTLA | c.809G>T (p.Arg270Ile) c.665G>T (p.Arg222Ile) n.313G>T c.827G>T (p.Arg276Ile) | |
| 3 | g.112466169C= | CA1393855047 | BTLA | c.809G= (p.Arg270=) c.665G= (p.Arg222=) n.313G= c.827G= (p.Arg276=) | |
| 3 | g.112466169C>G | CA353801173 | BTLA | c.809G>C (p.Arg270Thr) c.665G>C (p.Arg222Thr) n.313G>C c.827G>C (p.Arg276Thr) | |
| 3 | g.112466169C>T | CA2539278 | BTLA | c.809G>A (p.Arg270Lys) c.665G>A (p.Arg222Lys) n.313G>A c.827G>A (p.Arg276Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.112466170T>A | CA353801175 | BTLA | c.808A>T (p.Arg270Ter) c.664A>T (p.Arg222Ter) n.312A>T c.826A>T (p.Arg276Ter) | |
| 3 | g.112466170T>C | CA353801177 | BTLA | c.808A>G (p.Arg270Gly) c.664A>G (p.Arg222Gly) n.312A>G c.826A>G (p.Arg276Gly) | |
| 3 | g.112466170T>G | CA434970778 | BTLA | c.808A>C (p.Arg270=) c.664A>C (p.Arg222=) n.312A>C c.826A>C (p.Arg276=) | |
| 3 | g.112466171T>A | CA434970779 | BTLA | c.807A>T (p.Ser269=) c.663A>T (p.Ser221=) n.311A>T c.825A>T (p.Ser275=) | |
| 3 | g.112466171T>C | CA434970780 | BTLA | c.807A>G (p.Ser269=) c.663A>G (p.Ser221=) n.311A>G c.825A>G (p.Ser275=) | |
| 3 | g.112466171T>G | CA434970781 | BTLA | c.807A>C (p.Ser269=) c.663A>C (p.Ser221=) n.311A>C c.825A>C (p.Ser275=) | gnomAD v4 |
| 3 | g.112466172G>A | CA353801179 | BTLA | c.806C>T (p.Ser269Leu) c.662C>T (p.Ser221Leu) n.310C>T c.824C>T (p.Ser275Leu) | |
| 3 | g.112466172G>C | CA353801181 | BTLA | c.806C>G (p.Ser269Ter) c.662C>G (p.Ser221Ter) n.310C>G c.824C>G (p.Ser275Ter) | COSMIC |
| 3 | g.112466172G>T | CA353801182 | BTLA | c.806C>A (p.Ser269Ter) c.662C>A (p.Ser221Ter) n.310C>A c.824C>A (p.Ser275Ter) | |
| 3 | g.112466173A>C | CA353801183 | BTLA | c.805T>G (p.Ser269Ala) c.661T>G (p.Ser221Ala) n.309T>G c.823T>G (p.Ser275Ala) | |
| 3 | g.112466173A>G | CA353801184 | BTLA | c.805T>C (p.Ser269Pro) c.661T>C (p.Ser221Pro) n.309T>C c.823T>C (p.Ser275Pro) | |
| 3 | g.112466173A>T | CA353801187 | BTLA | c.805T>A (p.Ser269Thr) c.661T>A (p.Ser221Thr) n.309T>A c.823T>A (p.Ser275Thr) | |
| 3 | g.112466174G>A | CA434970782 | BTLA | c.804C>T (p.Asn268=) c.660C>T (p.Asn220=) n.308C>T c.822C>T (p.Asn274=) | |
| 3 | g.112466174G>C | CA353801190 | BTLA | c.804C>G (p.Asn268Lys) c.660C>G (p.Asn220Lys) n.308C>G c.822C>G (p.Asn274Lys) | |
| 3 | g.112466174G>T | CA353801193 | BTLA | c.804C>A (p.Asn268Lys) c.660C>A (p.Asn220Lys) n.308C>A c.822C>A (p.Asn274Lys) | |
| 3 | g.112466175T>A | CA353801197 | BTLA | c.803A>T (p.Asn268Ile) c.659A>T (p.Asn220Ile) n.307A>T c.821A>T (p.Asn274Ile) | |
| 3 | g.112466175T>C | CA353801200 | BTLA | c.803A>G (p.Asn268Ser) c.659A>G (p.Asn220Ser) n.307A>G c.821A>G (p.Asn274Ser) | |
| 3 | g.112466175T>G | CA353801202 | BTLA | c.803A>C (p.Asn268Thr) c.659A>C (p.Asn220Thr) n.307A>C c.821A>C (p.Asn274Thr) | gnomAD v4 |
| 3 | g.112466176T>A | CA353801207 | BTLA | c.802A>T (p.Asn268Tyr) c.658A>T (p.Asn220Tyr) n.306A>T c.820A>T (p.Asn274Tyr) | ClinVar |
| 3 | g.112466176T>C | CA353801208 | BTLA | c.802A>G (p.Asn268Asp) c.658A>G (p.Asn220Asp) n.306A>G c.820A>G (p.Asn274Asp) | dbSNP |
| 3 | g.112466176T>G | CA353801211 | BTLA | c.802A>C (p.Asn268His) c.658A>C (p.Asn220His) n.306A>C c.820A>C (p.Asn274His) | |
| 3 | g.112466176T= | CA1393855048 | BTLA | c.802A= (p.Asn268=) c.658A= (p.Asn220=) n.306A= c.820A= (p.Asn274=) | |
| 3 | g.112466177C>A | CA434970783 | BTLA | c.801G>T (p.Pro267=) c.657G>T (p.Pro219=) n.305G>T c.819G>T (p.Pro273=) | |
| 3 | g.112466177C= | CA1393855049 | BTLA | c.801G= (p.Pro267=) c.657G= (p.Pro219=) n.305G= c.819G= (p.Pro273=) | |
| 3 | g.112466177C>G | CA434970784 | BTLA | c.801G>C (p.Pro267=) c.657G>C (p.Pro219=) n.305G>C c.819G>C (p.Pro273=) | |
| 3 | g.112466177C>T | CA2539279 | BTLA | c.801G>A (p.Pro267=) c.657G>A (p.Pro219=) n.305G>A c.819G>A (p.Pro273=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.112466178G>A | CA2539280 | BTLA | c.800C>T (p.Pro267Leu) c.656C>T (p.Pro219Leu) n.304C>T c.818C>T (p.Pro273Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.112466178G>C | CA353801216 | BTLA | c.800C>G (p.Pro267Arg) c.656C>G (p.Pro219Arg) n.304C>G c.818C>G (p.Pro273Arg) | dbSNP gnomAD v4 |
| 3 | g.112466178G= | CA1393855050 | BTLA | c.800C= (p.Pro267=) c.656C= (p.Pro219=) n.304C= c.818C= (p.Pro273=) | |
| 3 | g.112466178G>T | CA353801221 | BTLA | c.800C>A (p.Pro267Gln) c.656C>A (p.Pro219Gln) n.304C>A c.818C>A (p.Pro273Gln) |