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 |
|---|---|---|---|---|---|
| X | g.38675709G>A | CA412982048 | TSPAN7 | c.446G>A (p.Ser149Asn) c.497G>A (p.Ser166Asn) n.390G>A c.536G>A (p.Ser179Asn) c.*472G>A (n.*472G>A) c.*439G>A (n.*439G>A) n.629G>A | |
| X | g.38675709G>C | CA412982049 | TSPAN7 | c.446G>C (p.Ser149Thr) c.497G>C (p.Ser166Thr) n.390G>C c.536G>C (p.Ser179Thr) c.*472G>C (n.*472G>C) c.*439G>C (n.*439G>C) n.629G>C | |
| X | g.38675709G= | CA2424970032 | TSPAN7 | c.446G= (p.Ser149=) c.497G= (p.Ser166=) n.390G= c.536G= (p.Ser179=) c.*472G= (n.*472G=) c.*439G= (n.*439G=) n.629G= | |
| X | g.38675709G>T | CA412982050 | TSPAN7 | c.446G>T (p.Ser149Ile) c.497G>T (p.Ser166Ile) n.390G>T c.536G>T (p.Ser179Ile) c.*472G>T (n.*472G>T) c.*439G>T (n.*439G>T) n.629G>T | dbSNP |
| X | g.38675710C>A | CA412982051 | TSPAN7 | c.447C>A (p.Ser149Arg) c.498C>A (p.Ser166Arg) n.391C>A c.537C>A (p.Ser179Arg) c.*473C>A (n.*473C>A) c.*440C>A (n.*440C>A) n.630C>A | |
| X | g.38675710C>G | CA412982052 | TSPAN7 | c.447C>G (p.Ser149Arg) c.498C>G (p.Ser166Arg) n.391C>G c.537C>G (p.Ser179Arg) c.*473C>G (n.*473C>G) c.*440C>G (n.*440C>G) n.630C>G | |
| X | g.38675710C>T | CA515685032 | TSPAN7 | c.447C>T (p.Ser149=) c.498C>T (p.Ser166=) n.391C>T c.537C>T (p.Ser179=) c.*473C>T (n.*473C>T) c.*440C>T (n.*440C>T) n.630C>T | |
| X | g.38675711T>A | CA412982053 | TSPAN7 | c.448T>A (p.Cys150Ser) c.499T>A (p.Cys167Ser) n.392T>A c.538T>A (p.Cys180Ser) c.*474T>A (n.*474T>A) c.*441T>A (n.*441T>A) n.631T>A | |
| X | g.38675711T>C | CA412982054 | TSPAN7 | c.448T>C (p.Cys150Arg) c.499T>C (p.Cys167Arg) n.392T>C c.538T>C (p.Cys180Arg) c.*474T>C (n.*474T>C) c.*441T>C (n.*441T>C) n.631T>C | |
| X | g.38675711T>G | CA412982055 | TSPAN7 | c.448T>G (p.Cys150Gly) c.499T>G (p.Cys167Gly) n.392T>G c.538T>G (p.Cys180Gly) c.*474T>G (n.*474T>G) c.*441T>G (n.*441T>G) n.631T>G | |
| X | g.38675712G>A | CA412982056 | TSPAN7 | c.449G>A (p.Cys150Tyr) c.500G>A (p.Cys167Tyr) n.393G>A c.539G>A (p.Cys180Tyr) c.*475G>A (n.*475G>A) c.*442G>A (n.*442G>A) n.632G>A | |
| X | g.38675712G>C | CA412982057 | TSPAN7 | c.449G>C (p.Cys150Ser) c.500G>C (p.Cys167Ser) n.393G>C c.539G>C (p.Cys180Ser) c.*475G>C (n.*475G>C) c.*442G>C (n.*442G>C) n.632G>C | |
| X | g.38675712G>T | CA412982058 | TSPAN7 | c.449G>T (p.Cys150Phe) c.500G>T (p.Cys167Phe) n.393G>T c.539G>T (p.Cys180Phe) c.*475G>T (n.*475G>T) c.*442G>T (n.*442G>T) n.632G>T | |
| X | g.38675713C>A | CA412982060 | TSPAN7 | c.450C>A (p.Cys150Ter) c.501C>A (p.Cys167Ter) n.394C>A c.540C>A (p.Cys180Ter) c.*476C>A (n.*476C>A) c.*443C>A (n.*443C>A) n.633C>A | |
| X | g.38675713C= | CA2424970033 | TSPAN7 | c.450C= (p.Cys150=) c.501C= (p.Cys167=) n.394C= c.540C= (p.Cys180=) c.*476C= (n.*476C=) c.*443C= (n.*443C=) n.633C= | |
| X | g.38675713C>G | CA412982059 | TSPAN7 | c.450C>G (p.Cys150Trp) c.501C>G (p.Cys167Trp) n.394C>G c.540C>G (p.Cys180Trp) c.*476C>G (n.*476C>G) c.*443C>G (n.*443C>G) n.633C>G | |
| X | g.38675713C>T | CA10386111 | TSPAN7 | c.450C>T (p.Cys150=) c.501C>T (p.Cys167=) n.394C>T c.540C>T (p.Cys180=) c.*476C>T (n.*476C>T) c.*443C>T (n.*443C>T) n.633C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.38675714T>A | CA412982061 | TSPAN7 | c.451T>A (p.Cys151Ser) c.502T>A (p.Cys168Ser) n.395T>A c.541T>A (p.Cys181Ser) c.*477T>A (n.*477T>A) c.*444T>A (n.*444T>A) n.634T>A | |
| X | g.38675714T>C | CA412982062 | TSPAN7 | c.451T>C (p.Cys151Arg) c.502T>C (p.Cys168Arg) n.395T>C c.541T>C (p.Cys181Arg) c.*477T>C (n.*477T>C) c.*444T>C (n.*444T>C) n.634T>C | |
| X | g.38675714T>G | CA412982063 | TSPAN7 | c.451T>G (p.Cys151Gly) c.502T>G (p.Cys168Gly) n.395T>G c.541T>G (p.Cys181Gly) c.*477T>G (n.*477T>G) c.*444T>G (n.*444T>G) n.634T>G | |
| X | g.38675715G>A | CA412982064 | TSPAN7 | c.452G>A (p.Cys151Tyr) c.503G>A (p.Cys168Tyr) n.396G>A c.542G>A (p.Cys181Tyr) c.*478G>A (n.*478G>A) c.*445G>A (n.*445G>A) n.635G>A | |
| X | g.38675715G>C | CA412982065 | TSPAN7 | c.452G>C (p.Cys151Ser) c.503G>C (p.Cys168Ser) n.396G>C c.542G>C (p.Cys181Ser) c.*478G>C (n.*478G>C) c.*445G>C (n.*445G>C) n.635G>C | |
| X | g.38675715G>T | CA412982066 | TSPAN7 | c.452G>T (p.Cys151Phe) c.503G>T (p.Cys168Phe) n.396G>T c.542G>T (p.Cys181Phe) c.*478G>T (n.*478G>T) c.*445G>T (n.*445G>T) n.635G>T | |
| X | g.38675716T>A | CA412982068 | TSPAN7 | c.453T>A (p.Cys151Ter) c.504T>A (p.Cys168Ter) n.397T>A c.543T>A (p.Cys181Ter) c.*479T>A (n.*479T>A) c.*446T>A (n.*446T>A) n.636T>A | |
| X | g.38675716T>C | CA515685051 | TSPAN7 | c.453T>C (p.Cys151=) c.504T>C (p.Cys168=) n.397T>C c.543T>C (p.Cys181=) c.*479T>C (n.*479T>C) c.*446T>C (n.*446T>C) n.636T>C | |
| X | g.38675716T>G | CA412982067 | TSPAN7 | c.453T>G (p.Cys151Trp) c.504T>G (p.Cys168Trp) n.397T>G c.543T>G (p.Cys181Trp) c.*479T>G (n.*479T>G) c.*446T>G (n.*446T>G) n.636T>G | |
| X | g.38675717G>A | CA412982069 | TSPAN7 | c.454G>A (p.Gly152Ser) c.505G>A (p.Gly169Ser) n.398G>A c.544G>A (p.Gly182Ser) c.*480G>A (n.*480G>A) c.*447G>A (n.*447G>A) n.637G>A | |
| X | g.38675717G>C | CA412982070 | TSPAN7 | c.454G>C (p.Gly152Arg) c.505G>C (p.Gly169Arg) n.398G>C c.544G>C (p.Gly182Arg) c.*480G>C (n.*480G>C) c.*447G>C (n.*447G>C) n.637G>C | |
| X | g.38675717G>T | CA412982071 | TSPAN7 | c.454G>T (p.Gly152Cys) c.505G>T (p.Gly169Cys) n.398G>T c.544G>T (p.Gly182Cys) c.*480G>T (n.*480G>T) c.*447G>T (n.*447G>T) n.637G>T | |
| X | g.38675718del | CA2820495005 | TSPAN7 | c.455del (p.Gly152ValfsTer25) c.506del (p.Gly169ValfsTer25) n.399del c.545del (p.Gly182ValfsTer25) c.*481del (n.*481del) c.*448del (n.*448del) n.638del | |
| X | g.38675718G>A | CA412982072 | TSPAN7 | c.455G>A (p.Gly152Asp) c.506G>A (p.Gly169Asp) n.399G>A c.545G>A (p.Gly182Asp) c.*481G>A (n.*481G>A) c.*448G>A (n.*448G>A) n.638G>A | |
| X | g.38675718G>C | CA412982073 | TSPAN7 | c.455G>C (p.Gly152Ala) c.506G>C (p.Gly169Ala) n.399G>C c.545G>C (p.Gly182Ala) c.*481G>C (n.*481G>C) c.*448G>C (n.*448G>C) n.638G>C | |
| X | g.38675718G= | CA2424970034 | TSPAN7 | c.455G= (p.Gly152=) c.506G= (p.Gly169=) n.399G= c.545G= (p.Gly182=) c.*481G= (n.*481G=) c.*448G= (n.*448G=) n.638G= | |
| X | g.38675718G>T | CA412982074 | TSPAN7 | c.455G>T (p.Gly152Val) c.506G>T (p.Gly169Val) n.399G>T c.545G>T (p.Gly182Val) c.*481G>T (n.*481G>T) c.*448G>T (n.*448G>T) n.638G>T | dbSNP |
| X | g.38675719T>A | CA515685059 | TSPAN7 | c.456T>A (p.Gly152=) c.507T>A (p.Gly169=) n.400T>A c.546T>A (p.Gly182=) c.*482T>A (n.*482T>A) c.*449T>A (n.*449T>A) n.639T>A | |
| X | g.38675719T>C | CA515685063 | TSPAN7 | c.456T>C (p.Gly152=) c.507T>C (p.Gly169=) n.400T>C c.546T>C (p.Gly182=) c.*482T>C (n.*482T>C) c.*449T>C (n.*449T>C) n.639T>C | |
| X | g.38675719T>G | CA515685061 | TSPAN7 | c.456T>G (p.Gly152=) c.507T>G (p.Gly169=) n.400T>G c.546T>G (p.Gly182=) c.*482T>G (n.*482T>G) c.*449T>G (n.*449T>G) n.639T>G | |
| X | g.38675720G>A | CA412982075 | TSPAN7 | c.457G>A (p.Val153Met) c.508G>A (p.Val170Met) n.401G>A c.547G>A (p.Val183Met) c.*483G>A (n.*483G>A) c.*450G>A (n.*450G>A) n.640G>A | |
| X | g.38675720G>C | CA412982077 | TSPAN7 | c.457G>C (p.Val153Leu) c.508G>C (p.Val170Leu) n.401G>C c.547G>C (p.Val183Leu) c.*483G>C (n.*483G>C) c.*450G>C (n.*450G>C) n.640G>C | |
| X | g.38675720G>T | CA412982076 | TSPAN7 | c.457G>T (p.Val153Leu) c.508G>T (p.Val170Leu) n.401G>T c.547G>T (p.Val183Leu) c.*483G>T (n.*483G>T) c.*450G>T (n.*450G>T) n.640G>T | |
| X | g.38675721T>A | CA412982078 | TSPAN7 | c.458T>A (p.Val153Glu) c.509T>A (p.Val170Glu) n.402T>A c.548T>A (p.Val183Glu) c.*484T>A (n.*484T>A) c.*451T>A (n.*451T>A) n.641T>A | |
| X | g.38675721T>C | CA412982079 | TSPAN7 | c.458T>C (p.Val153Ala) c.509T>C (p.Val170Ala) n.402T>C c.548T>C (p.Val183Ala) c.*484T>C (n.*484T>C) c.*451T>C (n.*451T>C) n.641T>C | |
| X | g.38675721T>G | CA412982080 | TSPAN7 | c.458T>G (p.Val153Gly) c.509T>G (p.Val170Gly) n.402T>G c.548T>G (p.Val183Gly) c.*484T>G (n.*484T>G) c.*451T>G (n.*451T>G) n.641T>G | |
| X | g.38675722G>A | CA515685071 | TSPAN7 | c.459G>A (p.Val153=) c.510G>A (p.Val170=) n.403G>A c.549G>A (p.Val183=) c.*485G>A (n.*485G>A) c.*452G>A (n.*452G>A) n.642G>A | |
| X | g.38675722G>C | CA515685072 | TSPAN7 | c.459G>C (p.Val153=) c.510G>C (p.Val170=) n.403G>C c.549G>C (p.Val183=) c.*485G>C (n.*485G>C) c.*452G>C (n.*452G>C) n.642G>C | |
| X | g.38675722G>T | CA515685073 | TSPAN7 | c.459G>T (p.Val153=) c.510G>T (p.Val170=) n.403G>T c.549G>T (p.Val183=) c.*485G>T (n.*485G>T) c.*452G>T (n.*452G>T) n.642G>T | |
| X | g.38675723C>A | CA412982081 | TSPAN7 | c.460C>A (p.Gln154Lys) c.511C>A (p.Gln171Lys) n.404C>A c.550C>A (p.Gln184Lys) c.*486C>A (n.*486C>A) c.*453C>A (n.*453C>A) n.643C>A | |
| X | g.38675723C>G | CA412982082 | TSPAN7 | c.460C>G (p.Gln154Glu) c.511C>G (p.Gln171Glu) n.404C>G c.550C>G (p.Gln184Glu) c.*486C>G (n.*486C>G) c.*453C>G (n.*453C>G) n.643C>G | |
| X | g.38675723C>T | CA412982083 | TSPAN7 | c.460C>T (p.Gln154Ter) c.511C>T (p.Gln171Ter) n.404C>T c.550C>T (p.Gln184Ter) c.*486C>T (n.*486C>T) c.*453C>T (n.*453C>T) n.643C>T | |
| X | g.38675724A>C | CA412982084 | TSPAN7 | c.461A>C (p.Gln154Pro) c.512A>C (p.Gln171Pro) n.405A>C c.551A>C (p.Gln184Pro) c.*487A>C (n.*487A>C) c.*454A>C (n.*454A>C) n.644A>C | |
| X | g.38675724A>G | CA412982085 | TSPAN7 | c.461A>G (p.Gln154Arg) c.512A>G (p.Gln171Arg) n.405A>G c.551A>G (p.Gln184Arg) c.*487A>G (n.*487A>G) c.*454A>G (n.*454A>G) n.644A>G | |
| X | g.38675724A>T | CA412982086 | TSPAN7 | c.461A>T (p.Gln154Leu) c.512A>T (p.Gln171Leu) n.405A>T c.551A>T (p.Gln184Leu) c.*487A>T (n.*487A>T) c.*454A>T (n.*454A>T) n.644A>T | |
| X | g.38675725G>A | CA515685083 | TSPAN7 | c.462G>A (p.Gln154=) c.513G>A (p.Gln171=) n.406G>A c.552G>A (p.Gln184=) c.*488G>A (n.*488G>A) c.*455G>A (n.*455G>A) n.645G>A | |
| X | g.38675725G>C | CA412982087 | TSPAN7 | c.462G>C (p.Gln154His) c.513G>C (p.Gln171His) n.406G>C c.552G>C (p.Gln184His) c.*488G>C (n.*488G>C) c.*455G>C (n.*455G>C) n.645G>C | ClinVar dbSNP |
| X | g.38675725G>T | CA412982088 | TSPAN7 | c.462G>T (p.Gln154His) c.513G>T (p.Gln171His) n.406G>T c.552G>T (p.Gln184His) c.*488G>T (n.*488G>T) c.*455G>T (n.*455G>T) n.645G>T | |
| X | g.38675726A>C | CA412982091 | TSPAN7 | c.463A>C (p.Asn155His) c.514A>C (p.Asn172His) n.407A>C c.553A>C (p.Asn185His) c.*489A>C (n.*489A>C) c.*456A>C (n.*456A>C) n.646A>C | |
| X | g.38675726A>G | CA412982089 | TSPAN7 | c.463A>G (p.Asn155Asp) c.514A>G (p.Asn172Asp) n.407A>G c.553A>G (p.Asn185Asp) c.*489A>G (n.*489A>G) c.*456A>G (n.*456A>G) n.646A>G | |
| X | g.38675726A>T | CA412982090 | TSPAN7 | c.463A>T (p.Asn155Tyr) c.514A>T (p.Asn172Tyr) n.407A>T c.553A>T (p.Asn185Tyr) c.*489A>T (n.*489A>T) c.*456A>T (n.*456A>T) n.646A>T | |
| X | g.38675727A>C | CA412982092 | TSPAN7 | c.464A>C (p.Asn155Thr) c.515A>C (p.Asn172Thr) n.408A>C c.554A>C (p.Asn185Thr) c.*490A>C (n.*490A>C) c.*457A>C (n.*457A>C) n.647A>C | |
| X | g.38675727A>G | CA412982094 | TSPAN7 | c.464A>G (p.Asn155Ser) c.515A>G (p.Asn172Ser) n.408A>G c.554A>G (p.Asn185Ser) c.*490A>G (n.*490A>G) c.*457A>G (n.*457A>G) n.647A>G | |
| X | g.38675727A>T | CA412982093 | TSPAN7 | c.464A>T (p.Asn155Ile) c.515A>T (p.Asn172Ile) n.408A>T c.554A>T (p.Asn185Ile) c.*490A>T (n.*490A>T) c.*457A>T (n.*457A>T) n.647A>T | |
| X | g.38675728C>A | CA412982095 | TSPAN7 | c.465C>A (p.Asn155Lys) c.516C>A (p.Asn172Lys) n.409C>A c.555C>A (p.Asn185Lys) c.*491C>A (n.*491C>A) c.*458C>A (n.*458C>A) n.648C>A | COSMIC COSMIC |
| X | g.38675728C>G | CA412982096 | TSPAN7 | c.465C>G (p.Asn155Lys) c.516C>G (p.Asn172Lys) n.409C>G c.555C>G (p.Asn185Lys) c.*491C>G (n.*491C>G) c.*458C>G (n.*458C>G) n.648C>G | |
| X | g.38675728C>T | CA515685093 | TSPAN7 | c.465C>T (p.Asn155=) c.516C>T (p.Asn172=) n.409C>T c.555C>T (p.Asn185=) c.*491C>T (n.*491C>T) c.*458C>T (n.*458C>T) n.648C>T | |
| X | g.38675729T>A | CA412982097 | TSPAN7 | c.466T>A (p.Tyr156Asn) c.517T>A (p.Tyr173Asn) n.410T>A c.556T>A (p.Tyr186Asn) c.*492T>A (n.*492T>A) c.*459T>A (n.*459T>A) n.649T>A | |
| X | g.38675729T>C | CA412982098 | TSPAN7 | c.466T>C (p.Tyr156His) c.517T>C (p.Tyr173His) n.410T>C c.556T>C (p.Tyr186His) c.*492T>C (n.*492T>C) c.*459T>C (n.*459T>C) n.649T>C | |
| X | g.38675729T>G | CA412982099 | TSPAN7 | c.466T>G (p.Tyr156Asp) c.517T>G (p.Tyr173Asp) n.410T>G c.556T>G (p.Tyr186Asp) c.*492T>G (n.*492T>G) c.*459T>G (n.*459T>G) n.649T>G | |
| X | g.38675730A>C | CA412982100 | TSPAN7 | c.467A>C (p.Tyr156Ser) c.518A>C (p.Tyr173Ser) n.411A>C c.557A>C (p.Tyr186Ser) c.*493A>C (n.*493A>C) c.*460A>C (n.*460A>C) n.650A>C | |
| X | g.38675730A>G | CA412982101 | TSPAN7 | c.467A>G (p.Tyr156Cys) c.518A>G (p.Tyr173Cys) n.411A>G c.557A>G (p.Tyr186Cys) c.*493A>G (n.*493A>G) c.*460A>G (n.*460A>G) n.650A>G | |
| X | g.38675730A>T | CA412982102 | TSPAN7 | c.467A>T (p.Tyr156Phe) c.518A>T (p.Tyr173Phe) n.411A>T c.557A>T (p.Tyr186Phe) c.*493A>T (n.*493A>T) c.*460A>T (n.*460A>T) n.650A>T | |
| X | g.38675731C>A | CA412982103 | TSPAN7 | c.468C>A (p.Tyr156Ter) c.519C>A (p.Tyr173Ter) n.412C>A c.558C>A (p.Tyr186Ter) c.*494C>A (n.*494C>A) c.*461C>A (n.*461C>A) n.651C>A | |
| X | g.38675731C>G | CA412982104 | TSPAN7 | c.468C>G (p.Tyr156Ter) c.519C>G (p.Tyr173Ter) n.412C>G c.558C>G (p.Tyr186Ter) c.*494C>G (n.*494C>G) c.*461C>G (n.*461C>G) n.651C>G | |
| X | g.38675731C>T | CA515685106 | TSPAN7 | c.468C>T (p.Tyr156=) c.519C>T (p.Tyr173=) n.412C>T c.558C>T (p.Tyr186=) c.*494C>T (n.*494C>T) c.*461C>T (n.*461C>T) n.651C>T | |
| X | g.38675732A>C | CA412982105 | TSPAN7 | c.469A>C (p.Thr157Pro) c.520A>C (p.Thr174Pro) n.413A>C c.559A>C (p.Thr187Pro) c.*495A>C (n.*495A>C) c.*462A>C (n.*462A>C) n.652A>C | |
| X | g.38675732A>G | CA412982106 | TSPAN7 | c.469A>G (p.Thr157Ala) c.520A>G (p.Thr174Ala) n.413A>G c.559A>G (p.Thr187Ala) c.*495A>G (n.*495A>G) c.*462A>G (n.*462A>G) n.652A>G | |
| X | g.38675732A>T | CA412982107 | TSPAN7 | c.469A>T (p.Thr157Ser) c.520A>T (p.Thr174Ser) n.413A>T c.559A>T (p.Thr187Ser) c.*495A>T (n.*495A>T) c.*462A>T (n.*462A>T) n.652A>T | |
| X | g.38675733C>A | CA412982110 | TSPAN7 | c.470C>A (p.Thr157Asn) c.521C>A (p.Thr174Asn) n.414C>A c.560C>A (p.Thr187Asn) c.*496C>A (n.*496C>A) c.*463C>A (n.*463C>A) n.653C>A | |
| X | g.38675733C>G | CA412982108 | TSPAN7 | c.470C>G (p.Thr157Ser) c.521C>G (p.Thr174Ser) n.414C>G c.560C>G (p.Thr187Ser) c.*496C>G (n.*496C>G) c.*463C>G (n.*463C>G) n.653C>G | |
| X | g.38675733C>T | CA412982109 | TSPAN7 | c.470C>T (p.Thr157Ile) c.521C>T (p.Thr174Ile) n.414C>T c.560C>T (p.Thr187Ile) c.*496C>T (n.*496C>T) c.*463C>T (n.*463C>T) n.653C>T | |
| X | g.38675734C>A | CA515685114 | TSPAN7 | c.471C>A (p.Thr157=) c.522C>A (p.Thr174=) n.415C>A c.561C>A (p.Thr187=) c.*497C>A (n.*497C>A) c.*464C>A (n.*464C>A) n.654C>A | |
| X | g.38675734C= | CA2424970035 | TSPAN7 | c.471C= (p.Thr157=) c.522C= (p.Thr174=) n.415C= c.561C= (p.Thr187=) c.*497C= (n.*497C=) c.*464C= (n.*464C=) n.654C= | |
| X | g.38675734C>G | CA515685116 | TSPAN7 | c.471C>G (p.Thr157=) c.522C>G (p.Thr174=) n.415C>G c.561C>G (p.Thr187=) c.*497C>G (n.*497C>G) c.*464C>G (n.*464C>G) n.654C>G | |
| X | g.38675734C>T | CA10386112 | TSPAN7 | c.471C>T (p.Thr157=) c.522C>T (p.Thr174=) n.415C>T c.561C>T (p.Thr187=) c.*497C>T (n.*497C>T) c.*464C>T (n.*464C>T) n.654C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.38675735A= | CA2424970036 | TSPAN7 | c.472A= (p.Asn158=) c.523A= (p.Asn175=) n.416A= c.562A= (p.Asn188=) c.*498A= (n.*498A=) c.*465A= (n.*465A=) n.655A= | |
| X | g.38675735A>C | CA412982111 | TSPAN7 | c.472A>C (p.Asn158His) c.523A>C (p.Asn175His) n.416A>C c.562A>C (p.Asn188His) c.*498A>C (n.*498A>C) c.*465A>C (n.*465A>C) n.655A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.38675735A>G | CA412982112 | TSPAN7 | c.472A>G (p.Asn158Asp) c.523A>G (p.Asn175Asp) n.416A>G c.562A>G (p.Asn188Asp) c.*498A>G (n.*498A>G) c.*465A>G (n.*465A>G) n.655A>G | |
| X | g.38675735A>T | CA412982113 | TSPAN7 | c.472A>T (p.Asn158Tyr) c.523A>T (p.Asn175Tyr) n.416A>T c.562A>T (p.Asn188Tyr) c.*498A>T (n.*498A>T) c.*465A>T (n.*465A>T) n.655A>T | COSMIC COSMIC |
| X | g.38675736A>C | CA412982114 | TSPAN7 | c.473A>C (p.Asn158Thr) c.524A>C (p.Asn175Thr) n.417A>C c.563A>C (p.Asn188Thr) c.*499A>C (n.*499A>C) c.*466A>C (n.*466A>C) n.656A>C | |
| X | g.38675736A>G | CA412982115 | TSPAN7 | c.473A>G (p.Asn158Ser) c.524A>G (p.Asn175Ser) n.417A>G c.563A>G (p.Asn188Ser) c.*499A>G (n.*499A>G) c.*466A>G (n.*466A>G) n.656A>G | ClinVar |
| X | g.38675736A>T | CA412982116 | TSPAN7 | c.473A>T (p.Asn158Ile) c.524A>T (p.Asn175Ile) n.417A>T c.563A>T (p.Asn188Ile) c.*499A>T (n.*499A>T) c.*466A>T (n.*466A>T) n.656A>T | |
| X | g.38675737C>A | CA412982117 | TSPAN7 | c.474C>A (p.Asn158Lys) c.525C>A (p.Asn175Lys) n.418C>A c.564C>A (p.Asn188Lys) c.*500C>A (n.*500C>A) c.*467C>A (n.*467C>A) n.657C>A | |
| X | g.38675737C>G | CA412982118 | TSPAN7 | c.474C>G (p.Asn158Lys) c.525C>G (p.Asn175Lys) n.418C>G c.564C>G (p.Asn188Lys) c.*500C>G (n.*500C>G) c.*467C>G (n.*467C>G) n.657C>G | |
| X | g.38675737C>T | CA515685128 | TSPAN7 | c.474C>T (p.Asn158=) c.525C>T (p.Asn175=) n.418C>T c.564C>T (p.Asn188=) c.*500C>T (n.*500C>T) c.*467C>T (n.*467C>T) n.657C>T | |
| X | g.38675738T>A | CA412982119 | TSPAN7 | c.475T>A (p.Trp159Arg) c.526T>A (p.Trp176Arg) n.419T>A c.565T>A (p.Trp189Arg) c.*501T>A (n.*501T>A) c.*468T>A (n.*468T>A) n.658T>A | |
| X | g.38675738T>C | CA412982120 | TSPAN7 | c.475T>C (p.Trp159Arg) c.526T>C (p.Trp176Arg) n.419T>C c.565T>C (p.Trp189Arg) c.*501T>C (n.*501T>C) c.*468T>C (n.*468T>C) n.658T>C | |
| X | g.38675738T>G | CA412982121 | TSPAN7 | c.475T>G (p.Trp159Gly) c.526T>G (p.Trp176Gly) n.419T>G c.565T>G (p.Trp189Gly) c.*501T>G (n.*501T>G) c.*468T>G (n.*468T>G) n.658T>G | |
| X | g.38675739G>A | CA412982122 | TSPAN7 | c.476G>A (p.Trp159Ter) c.527G>A (p.Trp176Ter) n.420G>A c.566G>A (p.Trp189Ter) c.*502G>A (n.*502G>A) c.*469G>A (n.*469G>A) n.659G>A | |
| X | g.38675739G>C | CA412982124 | TSPAN7 | c.476G>C (p.Trp159Ser) c.527G>C (p.Trp176Ser) n.420G>C c.566G>C (p.Trp189Ser) c.*502G>C (n.*502G>C) c.*469G>C (n.*469G>C) n.659G>C | |
| X | g.38675739G>T | CA412982123 | TSPAN7 | c.476G>T (p.Trp159Leu) c.527G>T (p.Trp176Leu) n.420G>T c.566G>T (p.Trp189Leu) c.*502G>T (n.*502G>T) c.*469G>T (n.*469G>T) n.659G>T | |
| X | g.38675740G>A | CA412982125 | TSPAN7 | c.477G>A (p.Trp159Ter) c.528G>A (p.Trp176Ter) n.421G>A c.567G>A (p.Trp189Ter) c.*503G>A (n.*503G>A) c.*470G>A (n.*470G>A) n.660G>A | |
| X | g.38675740G>C | CA412982126 | TSPAN7 | c.477G>C (p.Trp159Cys) c.528G>C (p.Trp176Cys) n.421G>C c.567G>C (p.Trp189Cys) c.*503G>C (n.*503G>C) c.*470G>C (n.*470G>C) n.660G>C | |
| X | g.38675740G>T | CA412982127 | TSPAN7 | c.477G>T (p.Trp159Cys) c.528G>T (p.Trp176Cys) n.421G>T c.567G>T (p.Trp189Cys) c.*503G>T (n.*503G>T) c.*470G>T (n.*470G>T) n.660G>T | |
| X | g.38675741A>C | CA412982128 | TSPAN7 | c.478A>C (p.Ser160Arg) c.529A>C (p.Ser177Arg) n.422A>C c.568A>C (p.Ser190Arg) c.*504A>C (n.*504A>C) c.*471A>C (n.*471A>C) n.661A>C | |
| X | g.38675741A>G | CA412982129 | TSPAN7 | c.478A>G (p.Ser160Gly) c.529A>G (p.Ser177Gly) n.422A>G c.568A>G (p.Ser190Gly) c.*504A>G (n.*504A>G) c.*471A>G (n.*471A>G) n.661A>G | |
| X | g.38675741A>T | CA412982130 | TSPAN7 | c.478A>T (p.Ser160Cys) c.529A>T (p.Ser177Cys) n.422A>T c.568A>T (p.Ser190Cys) c.*504A>T (n.*504A>T) c.*471A>T (n.*471A>T) n.661A>T | |
| X | g.38675742G>A | CA412982131 | TSPAN7 | c.479G>A (p.Ser160Asn) c.530G>A (p.Ser177Asn) n.423G>A c.569G>A (p.Ser190Asn) c.*505G>A (n.*505G>A) c.*472G>A (n.*472G>A) n.662G>A | |
| X | g.38675742G>C | CA412982132 | TSPAN7 | c.479G>C (p.Ser160Thr) c.530G>C (p.Ser177Thr) n.423G>C c.569G>C (p.Ser190Thr) c.*505G>C (n.*505G>C) c.*472G>C (n.*472G>C) n.662G>C | |
| X | g.38675742G>T | CA412982133 | TSPAN7 | c.479G>T (p.Ser160Ile) c.530G>T (p.Ser177Ile) n.423G>T c.569G>T (p.Ser190Ile) c.*505G>T (n.*505G>T) c.*472G>T (n.*472G>T) n.662G>T | gnomAD v4 |
| X | g.38675743C>A | CA412982134 | TSPAN7 | c.480C>A (p.Ser160Arg) c.531C>A (p.Ser177Arg) n.424C>A c.570C>A (p.Ser190Arg) c.*506C>A (n.*506C>A) c.*473C>A (n.*473C>A) n.663C>A | |
| X | g.38675743C>G | CA412982135 | TSPAN7 | c.480C>G (p.Ser160Arg) c.531C>G (p.Ser177Arg) n.424C>G c.570C>G (p.Ser190Arg) c.*506C>G (n.*506C>G) c.*473C>G (n.*473C>G) n.663C>G | |
| X | g.38675743C>T | CA515685148 | TSPAN7 | c.480C>T (p.Ser160=) c.531C>T (p.Ser177=) n.424C>T c.570C>T (p.Ser190=) c.*506C>T (n.*506C>T) c.*473C>T (n.*473C>T) n.663C>T | |
| X | g.38675744A>C | CA412982138 | TSPAN7 | c.481A>C (p.Thr161Pro) c.532A>C (p.Thr178Pro) n.425A>C c.571A>C (p.Thr191Pro) c.*507A>C (n.*507A>C) c.*474A>C (n.*474A>C) n.664A>C | |
| X | g.38675744A>G | CA412982137 | TSPAN7 | c.481A>G (p.Thr161Ala) c.532A>G (p.Thr178Ala) n.425A>G c.571A>G (p.Thr191Ala) c.*507A>G (n.*507A>G) c.*474A>G (n.*474A>G) n.664A>G | |
| X | g.38675744A>T | CA412982136 | TSPAN7 | c.481A>T (p.Thr161Ser) c.532A>T (p.Thr178Ser) n.425A>T c.571A>T (p.Thr191Ser) c.*507A>T (n.*507A>T) c.*474A>T (n.*474A>T) n.664A>T | |
| X | g.38675745C>A | CA412982139 | TSPAN7 | c.482C>A (p.Thr161Asn) c.533C>A (p.Thr178Asn) n.426C>A c.572C>A (p.Thr191Asn) c.*508C>A (n.*508C>A) c.*475C>A (n.*475C>A) n.665C>A | |
| X | g.38675745C>G | CA412982140 | TSPAN7 | c.482C>G (p.Thr161Ser) c.533C>G (p.Thr178Ser) n.426C>G c.572C>G (p.Thr191Ser) c.*508C>G (n.*508C>G) c.*475C>G (n.*475C>G) n.665C>G | gnomAD v4 |
| X | g.38675745C>T | CA412982141 | TSPAN7 | c.482C>T (p.Thr161Ile) c.533C>T (p.Thr178Ile) n.426C>T c.572C>T (p.Thr191Ile) c.*508C>T (n.*508C>T) c.*475C>T (n.*475C>T) n.665C>T | gnomAD v4 COSMIC COSMIC |
| X | g.38675746C>A | CA10386113 | TSPAN7 | c.483C>A (p.Thr161=) c.534C>A (p.Thr178=) n.427C>A c.573C>A (p.Thr191=) c.*509C>A (n.*509C>A) c.*476C>A (n.*476C>A) n.666C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.38675746C= | CA2424970037 | TSPAN7 | c.483C= (p.Thr161=) c.534C= (p.Thr178=) n.427C= c.573C= (p.Thr191=) c.*509C= (n.*509C=) c.*476C= (n.*476C=) n.666C= | |
| X | g.38675746C>G | CA515685158 | TSPAN7 | c.483C>G (p.Thr161=) c.534C>G (p.Thr178=) n.427C>G c.573C>G (p.Thr191=) c.*509C>G (n.*509C>G) c.*476C>G (n.*476C>G) n.666C>G | |
| X | g.38675746C>T | CA515685159 | TSPAN7 | c.483C>T (p.Thr161=) c.534C>T (p.Thr178=) n.427C>T c.573C>T (p.Thr191=) c.*509C>T (n.*509C>T) c.*476C>T (n.*476C>T) n.666C>T | |
| X | g.38675747A>C | CA412982142 | TSPAN7 | c.484A>C (p.Ser162Arg) c.535A>C (p.Ser179Arg) n.428A>C c.574A>C (p.Ser192Arg) c.*510A>C (n.*510A>C) c.*477A>C (n.*477A>C) n.667A>C | |
| X | g.38675747A>G | CA412982143 | TSPAN7 | c.484A>G (p.Ser162Gly) c.535A>G (p.Ser179Gly) n.428A>G c.574A>G (p.Ser192Gly) c.*510A>G (n.*510A>G) c.*477A>G (n.*477A>G) n.667A>G | |
| X | g.38675747A>T | CA412982144 | TSPAN7 | c.484A>T (p.Ser162Cys) c.535A>T (p.Ser179Cys) n.428A>T c.574A>T (p.Ser192Cys) c.*510A>T (n.*510A>T) c.*477A>T (n.*477A>T) n.667A>T | |
| X | g.38675748G>A | CA412982145 | TSPAN7 | c.485G>A (p.Ser162Asn) c.536G>A (p.Ser179Asn) n.429G>A c.575G>A (p.Ser192Asn) c.*511G>A (n.*511G>A) c.*478G>A (n.*478G>A) n.668G>A | dbSNP gnomAD v4 |
| X | g.38675748G>C | CA412982146 | TSPAN7 | c.485G>C (p.Ser162Thr) c.536G>C (p.Ser179Thr) n.429G>C c.575G>C (p.Ser192Thr) c.*511G>C (n.*511G>C) c.*478G>C (n.*478G>C) n.668G>C | |
| X | g.38675748G= | CA2424970038 | TSPAN7 | c.485G= (p.Ser162=) c.536G= (p.Ser179=) n.429G= c.575G= (p.Ser192=) c.*511G= (n.*511G=) c.*478G= (n.*478G=) n.668G= | |
| X | g.38675748G>T | CA412982147 | TSPAN7 | c.485G>T (p.Ser162Ile) c.536G>T (p.Ser179Ile) n.429G>T c.575G>T (p.Ser192Ile) c.*511G>T (n.*511G>T) c.*478G>T (n.*478G>T) n.668G>T | |
| X | g.38675748_38675749insGGAATAGTACAGTAACGATTAAGGCATATGATAGAAACAATACGCCAACAACAAAAACAATTACAATTACAGTACGAAGCCAAGCAGATGTCCACAA | CA2520386785 | TSPAN7 | c.485_486insGGAATAGTACAGTAACGATTAAGGCATATGATAGAAACAATACGCCAACAACAAAAACAATTACAATTACAGTACGAAGCCAAGCAGATGTCCACAA (p.Ser162ArgfsTer3) c.536_537insGGAATAGTACAGTAACGATTAAGGCATATGATAGAAACAATACGCCAACAACAAAAACAATTACAATTACAGTACGAAGCCAAGCAGATGTCCACAA (p.Ser179ArgfsTer3) n.429_430insGGAATAGTACAGTAACGATTAAGGCATATGATAGAAACAATACGCCAACAACAAAAACAATTACAATTACAGTACGAAGCCAAGCAGATGTCCACAA c.575_576insGGAATAGTACAGTAACGATTAAGGCATATGATAGAAACAATACGCCAACAACAAAAACAATTACAATTACAGTACGAAGCCAAGCAGATGTCCACAA (p.Ser192ArgfsTer3) c.*511_*512insGGAATAGTACAGTAACGATTAAGGCATATGATAGAAACAATACGCCAACAACAAAAACAATTACAATTACAGTACGAAGCCAAGCAGATGTCCACAA (n.*511_*512insGGAATAGTACAGTAACGATTAAGGCATATGATAGAAACAATACGCCAACAACAAAAACAATTACAATTACAGTACGAAGCCAAGCAGATGTCCACAA) c.*478_*479insGGAATAGTACAGTAACGATTAAGGCATATGATAGAAACAATACGCCAACAACAAAAACAATTACAATTACAGTACGAAGCCAAGCAGATGTCCACAA (n.*478_*479insGGAATAGTACAGTAACGATTAAGGCATATGATAGAAACAATACGCCAACAACAAAAACAATTACAATTACAGTACGAAGCCAAGCAGATGTCCACAA) n.668_669insGGAATAGTACAGTAACGATTAAGGCATATGATAGAAACAATACGCCAACAACAAAAACAATTACAATTACAGTACGAAGCCAAGCAGATGTCCACAA | |
| X | g.38675749C>A | CA412982148 | TSPAN7 | c.486C>A (p.Ser162Arg) c.537C>A (p.Ser179Arg) n.430C>A c.576C>A (p.Ser192Arg) c.*512C>A (n.*512C>A) c.*479C>A (n.*479C>A) n.669C>A | |
| X | g.38675749C>G | CA412982149 | TSPAN7 | c.486C>G (p.Ser162Arg) c.537C>G (p.Ser179Arg) n.430C>G c.576C>G (p.Ser192Arg) c.*512C>G (n.*512C>G) c.*479C>G (n.*479C>G) n.669C>G | |
| X | g.38675749C>T | CA515685171 | TSPAN7 | c.486C>T (p.Ser162=) c.537C>T (p.Ser179=) n.430C>T c.576C>T (p.Ser192=) c.*512C>T (n.*512C>T) c.*479C>T (n.*479C>T) n.669C>T | |
| X | g.38675750C>A | CA412982152 | TSPAN7 | c.487C>A (p.Pro163Thr) c.538C>A (p.Pro180Thr) n.431C>A c.577C>A (p.Pro193Thr) c.*513C>A (n.*513C>A) c.*480C>A (n.*480C>A) n.670C>A | |
| X | g.38675750C>G | CA412982151 | TSPAN7 | c.487C>G (p.Pro163Ala) c.538C>G (p.Pro180Ala) n.431C>G c.577C>G (p.Pro193Ala) c.*513C>G (n.*513C>G) c.*480C>G (n.*480C>G) n.670C>G | |
| X | g.38675750C>T | CA412982150 | TSPAN7 | c.487C>T (p.Pro163Ser) c.538C>T (p.Pro180Ser) n.431C>T c.577C>T (p.Pro193Ser) c.*513C>T (n.*513C>T) c.*480C>T (n.*480C>T) n.670C>T | gnomAD v3 gnomAD v4 |
| X | g.38675751C>A | CA412982154 | TSPAN7 | c.488C>A (p.Pro163His) c.539C>A (p.Pro180His) n.432C>A c.578C>A (p.Pro193His) c.*514C>A (n.*514C>A) c.*481C>A (n.*481C>A) n.671C>A | |
| X | g.38675751C= | CA2424970039 | TSPAN7 | c.488C= (p.Pro163=) c.539C= (p.Pro180=) n.432C= c.578C= (p.Pro193=) c.*514C= (n.*514C=) c.*481C= (n.*481C=) n.671C= | |
| X | g.38675751C>G | CA412982153 | TSPAN7 | c.488C>G (p.Pro163Arg) c.539C>G (p.Pro180Arg) n.432C>G c.578C>G (p.Pro193Arg) c.*514C>G (n.*514C>G) c.*481C>G (n.*481C>G) n.671C>G | |
| X | g.38675751C>T | CA412982155 | TSPAN7 | c.488C>T (p.Pro163Leu) c.539C>T (p.Pro180Leu) n.432C>T c.578C>T (p.Pro193Leu) c.*514C>T (n.*514C>T) c.*481C>T (n.*481C>T) n.671C>T | dbSNP gnomAD v2 |
| X | g.38675752C>A | CA515685180 | TSPAN7 | c.489C>A (p.Pro163=) c.540C>A (p.Pro180=) n.433C>A c.579C>A (p.Pro193=) c.*515C>A (n.*515C>A) c.*482C>A (n.*482C>A) n.672C>A | |
| X | g.38675752C>G | CA515685182 | TSPAN7 | c.489C>G (p.Pro163=) c.540C>G (p.Pro180=) n.433C>G c.579C>G (p.Pro193=) c.*515C>G (n.*515C>G) c.*482C>G (n.*482C>G) n.672C>G | |
| X | g.38675752C>T | CA515685184 | TSPAN7 | c.489C>T (p.Pro163=) c.540C>T (p.Pro180=) n.433C>T c.579C>T (p.Pro193=) c.*515C>T (n.*515C>T) c.*482C>T (n.*482C>T) n.672C>T | |
| X | g.38675753T>A | CA412982156 | TSPAN7 | c.490T>A (p.Tyr164Asn) c.541T>A (p.Tyr181Asn) n.434T>A c.580T>A (p.Tyr194Asn) c.*516T>A (n.*516T>A) c.*483T>A (n.*483T>A) n.673T>A | gnomAD v4 |
| X | g.38675753T>C | CA412982157 | TSPAN7 | c.490T>C (p.Tyr164His) c.541T>C (p.Tyr181His) n.434T>C c.580T>C (p.Tyr194His) c.*516T>C (n.*516T>C) c.*483T>C (n.*483T>C) n.673T>C | |
| X | g.38675753T>G | CA412982158 | TSPAN7 | c.490T>G (p.Tyr164Asp) c.541T>G (p.Tyr181Asp) n.434T>G c.580T>G (p.Tyr194Asp) c.*516T>G (n.*516T>G) c.*483T>G (n.*483T>G) n.673T>G | |
| X | g.38675754A>C | CA412982159 | TSPAN7 | c.491A>C (p.Tyr164Ser) c.542A>C (p.Tyr181Ser) n.435A>C c.581A>C (p.Tyr194Ser) c.*517A>C (n.*517A>C) c.*484A>C (n.*484A>C) n.674A>C | |
| X | g.38675754A>G | CA412982160 | TSPAN7 | c.491A>G (p.Tyr164Cys) c.542A>G (p.Tyr181Cys) n.435A>G c.581A>G (p.Tyr194Cys) c.*517A>G (n.*517A>G) c.*484A>G (n.*484A>G) n.674A>G | gnomAD v4 |
| X | g.38675754A>T | CA412982161 | TSPAN7 | c.491A>T (p.Tyr164Phe) c.542A>T (p.Tyr181Phe) n.435A>T c.581A>T (p.Tyr194Phe) c.*517A>T (n.*517A>T) c.*484A>T (n.*484A>T) n.674A>T | |
| X | g.38675755C>A | CA412982162 | TSPAN7 | c.492C>A (p.Tyr164Ter) c.543C>A (p.Tyr181Ter) n.436C>A c.582C>A (p.Tyr194Ter) c.*518C>A (n.*518C>A) c.*485C>A (n.*485C>A) n.675C>A | |
| X | g.38675755C>G | CA412982163 | TSPAN7 | c.492C>G (p.Tyr164Ter) c.543C>G (p.Tyr181Ter) n.436C>G c.582C>G (p.Tyr194Ter) c.*518C>G (n.*518C>G) c.*485C>G (n.*485C>G) n.675C>G | |
| X | g.38675755C>T | CA515685194 | TSPAN7 | c.492C>T (p.Tyr164=) c.543C>T (p.Tyr181=) n.436C>T c.582C>T (p.Tyr194=) c.*518C>T (n.*518C>T) c.*485C>T (n.*485C>T) n.675C>T | |
| X | g.38675756T>A | CA412982164 | TSPAN7 | c.493T>A (p.Phe165Ile) c.544T>A (p.Phe182Ile) n.437T>A c.583T>A (p.Phe195Ile) c.*519T>A (n.*519T>A) c.*486T>A (n.*486T>A) n.676T>A | |
| X | g.38675756T>C | CA412982165 | TSPAN7 | c.493T>C (p.Phe165Leu) c.544T>C (p.Phe182Leu) n.437T>C c.583T>C (p.Phe195Leu) c.*519T>C (n.*519T>C) c.*486T>C (n.*486T>C) n.676T>C | |
| X | g.38675756T>G | CA412982166 | TSPAN7 | c.493T>G (p.Phe165Val) c.544T>G (p.Phe182Val) n.437T>G c.583T>G (p.Phe195Val) c.*519T>G (n.*519T>G) c.*486T>G (n.*486T>G) n.676T>G | |
| X | g.38675757T>A | CA412982169 | TSPAN7 | c.494T>A (p.Phe165Tyr) c.545T>A (p.Phe182Tyr) n.438T>A c.584T>A (p.Phe195Tyr) c.*520T>A (n.*520T>A) c.*487T>A (n.*487T>A) n.677T>A | |
| X | g.38675757T>C | CA412982168 | TSPAN7 | c.494T>C (p.Phe165Ser) c.545T>C (p.Phe182Ser) n.438T>C c.584T>C (p.Phe195Ser) c.*520T>C (n.*520T>C) c.*487T>C (n.*487T>C) n.677T>C | |
| X | g.38675757T>G | CA412982167 | TSPAN7 | c.494T>G (p.Phe165Cys) c.545T>G (p.Phe182Cys) n.438T>G c.584T>G (p.Phe195Cys) c.*520T>G (n.*520T>G) c.*487T>G (n.*487T>G) n.677T>G | gnomAD v4 |
| X | g.38675758C>A | CA412982170 | TSPAN7 | c.495C>A (p.Phe165Leu) c.546C>A (p.Phe182Leu) n.439C>A c.585C>A (p.Phe195Leu) c.*521C>A (n.*521C>A) c.*488C>A (n.*488C>A) n.678C>A | |
| X | g.38675758C= | CA2424970040 | TSPAN7 | c.495C= (p.Phe165=) c.546C= (p.Phe182=) n.439C= c.585C= (p.Phe195=) c.*521C= (n.*521C=) c.*488C= (n.*488C=) n.678C= | |
| X | g.38675758C>G | CA328161067 | TSPAN7 | c.495C>G (p.Phe165Leu) c.546C>G (p.Phe182Leu) n.439C>G c.585C>G (p.Phe195Leu) c.*521C>G (n.*521C>G) c.*488C>G (n.*488C>G) n.678C>G | dbSNP |
| X | g.38675758C>T | CA515685205 | TSPAN7 | c.495C>T (p.Phe165=) c.546C>T (p.Phe182=) n.439C>T c.585C>T (p.Phe195=) c.*521C>T (n.*521C>T) c.*488C>T (n.*488C>T) n.678C>T | |
| X | g.38675759C>A | CA412982171 | TSPAN7 | c.496C>A (p.Leu166Met) c.547C>A (p.Leu183Met) n.440C>A c.586C>A (p.Leu196Met) c.*522C>A (n.*522C>A) c.*489C>A (n.*489C>A) n.679C>A | dbSNP |
| X | g.38675759C= | CA2424970041 | TSPAN7 | c.496C= (p.Leu166=) c.547C= (p.Leu183=) n.440C= c.586C= (p.Leu196=) c.*522C= (n.*522C=) c.*489C= (n.*489C=) n.679C= | |
| X | g.38675759C>G | CA412982172 | TSPAN7 | c.496C>G (p.Leu166Val) c.547C>G (p.Leu183Val) n.440C>G c.586C>G (p.Leu196Val) c.*522C>G (n.*522C>G) c.*489C>G (n.*489C>G) n.679C>G | |
| X | g.38675759C>T | CA515685207 | TSPAN7 | c.496C>T (p.Leu166=) c.547C>T (p.Leu183=) n.440C>T c.586C>T (p.Leu196=) c.*522C>T (n.*522C>T) c.*489C>T (n.*489C>T) n.679C>T | |
| X | g.38675760T>A | CA412982173 | TSPAN7 | c.497T>A (p.Leu166Gln) c.548T>A (p.Leu183Gln) n.441T>A c.587T>A (p.Leu196Gln) c.*523T>A (n.*523T>A) c.*490T>A (n.*490T>A) n.680T>A | |
| X | g.38675760T>C | CA412982174 | TSPAN7 | c.497T>C (p.Leu166Pro) c.548T>C (p.Leu183Pro) n.441T>C c.587T>C (p.Leu196Pro) c.*523T>C (n.*523T>C) c.*490T>C (n.*490T>C) n.680T>C | |
| X | g.38675760T>G | CA412982175 | TSPAN7 | c.497T>G (p.Leu166Arg) c.548T>G (p.Leu183Arg) n.441T>G c.587T>G (p.Leu196Arg) c.*523T>G (n.*523T>G) c.*490T>G (n.*490T>G) n.680T>G | |
| X | g.38675761G>A | CA515685215 | TSPAN7 | c.498G>A (p.Leu166=) c.549G>A (p.Leu183=) n.442G>A c.588G>A (p.Leu196=) c.*524G>A (n.*524G>A) c.*491G>A (n.*491G>A) n.681G>A | |
| X | g.38675761G>C | CA515685217 | TSPAN7 | c.498G>C (p.Leu166=) c.549G>C (p.Leu183=) n.442G>C c.588G>C (p.Leu196=) c.*524G>C (n.*524G>C) c.*491G>C (n.*491G>C) n.681G>C | |
| X | g.38675761G>T | CA515685219 | TSPAN7 | c.498G>T (p.Leu166=) c.549G>T (p.Leu183=) n.442G>T c.588G>T (p.Leu196=) c.*524G>T (n.*524G>T) c.*491G>T (n.*491G>T) n.681G>T | |
| X | g.38675762G>A | CA412982176 | TSPAN7 | c.499G>A (p.Glu167Lys) c.550G>A (p.Glu184Lys) n.443G>A c.589G>A (p.Glu197Lys) c.*525G>A (n.*525G>A) c.*492G>A (n.*492G>A) n.682G>A | |
| X | g.38675762G>C | CA412982177 | TSPAN7 | c.499G>C (p.Glu167Gln) c.550G>C (p.Glu184Gln) n.443G>C c.589G>C (p.Glu197Gln) c.*525G>C (n.*525G>C) c.*492G>C (n.*492G>C) n.682G>C | |
| X | g.38675762G>T | CA412982178 | TSPAN7 | c.499G>T (p.Glu167Ter) c.550G>T (p.Glu184Ter) n.443G>T c.589G>T (p.Glu197Ter) c.*525G>T (n.*525G>T) c.*492G>T (n.*492G>T) n.682G>T | |
| X | g.38675763A>C | CA412982179 | TSPAN7 | c.500A>C (p.Glu167Ala) c.551A>C (p.Glu184Ala) n.444A>C c.590A>C (p.Glu197Ala) c.*526A>C (n.*526A>C) c.*493A>C (n.*493A>C) n.683A>C | |
| X | g.38675763A>G | CA412982180 | TSPAN7 | c.500A>G (p.Glu167Gly) c.551A>G (p.Glu184Gly) n.444A>G c.590A>G (p.Glu197Gly) c.*526A>G (n.*526A>G) c.*493A>G (n.*493A>G) n.683A>G | |
| X | g.38675763A>T | CA412982181 | TSPAN7 | c.500A>T (p.Glu167Val) c.551A>T (p.Glu184Val) n.444A>T c.590A>T (p.Glu197Val) c.*526A>T (n.*526A>T) c.*493A>T (n.*493A>T) n.683A>T | |
| X | g.38675764G>A | CA515685228 | TSPAN7 | c.501G>A (p.Glu167=) c.552G>A (p.Glu184=) n.445G>A c.591G>A (p.Glu197=) c.*527G>A (n.*527G>A) c.*494G>A (n.*494G>A) n.684G>A | |
| X | g.38675764G>C | CA412982183 | TSPAN7 | c.501G>C (p.Glu167Asp) c.552G>C (p.Glu184Asp) n.445G>C c.591G>C (p.Glu197Asp) c.*527G>C (n.*527G>C) c.*494G>C (n.*494G>C) n.684G>C | |
| X | g.38675764G>T | CA412982182 | TSPAN7 | c.501G>T (p.Glu167Asp) c.552G>T (p.Glu184Asp) n.445G>T c.591G>T (p.Glu197Asp) c.*527G>T (n.*527G>T) c.*494G>T (n.*494G>T) n.684G>T | |
| X | g.38675765C>A | CA412982184 | TSPAN7 | c.502C>A (p.His168Asn) c.553C>A (p.His185Asn) n.446C>A c.592C>A (p.His198Asn) c.*528C>A (n.*528C>A) c.*495C>A (n.*495C>A) n.685C>A | |
| X | g.38675765C>G | CA412982185 | TSPAN7 | c.502C>G (p.His168Asp) c.553C>G (p.His185Asp) n.446C>G c.592C>G (p.His198Asp) c.*528C>G (n.*528C>G) c.*495C>G (n.*495C>G) n.685C>G | |
| X | g.38675765C>T | CA412982186 | TSPAN7 | c.502C>T (p.His168Tyr) c.553C>T (p.His185Tyr) n.446C>T c.592C>T (p.His198Tyr) c.*528C>T (n.*528C>T) c.*495C>T (n.*495C>T) n.685C>T | |
| X | g.38675766A= | CA2424970042 | TSPAN7 | c.503A= (p.His168=) c.554A= (p.His185=) n.447A= c.593A= (p.His198=) c.*529A= (n.*529A=) c.*496A= (n.*496A=) n.686A= | |
| X | g.38675766A>C | CA412982187 | TSPAN7 | c.503A>C (p.His168Pro) c.554A>C (p.His185Pro) n.447A>C c.593A>C (p.His198Pro) c.*529A>C (n.*529A>C) c.*496A>C (n.*496A>C) n.686A>C | |
| X | g.38675766A>G | CA10386114 | TSPAN7 | c.503A>G (p.His168Arg) c.554A>G (p.His185Arg) n.447A>G c.593A>G (p.His198Arg) c.*529A>G (n.*529A>G) c.*496A>G (n.*496A>G) n.686A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.38675766A>T | CA412982188 | TSPAN7 | c.503A>T (p.His168Leu) c.554A>T (p.His185Leu) n.447A>T c.593A>T (p.His198Leu) c.*529A>T (n.*529A>T) c.*496A>T (n.*496A>T) n.686A>T | |
| X | g.38675767T>A | CA412982190 | TSPAN7 | c.504T>A (p.His168Gln) c.555T>A (p.His185Gln) n.448T>A c.594T>A (p.His198Gln) c.*530T>A (n.*530T>A) c.*497T>A (n.*497T>A) n.687T>A | |
| X | g.38675767T>C | CA515685239 | TSPAN7 | c.504T>C (p.His168=) c.555T>C (p.His185=) n.448T>C c.594T>C (p.His198=) c.*530T>C (n.*530T>C) c.*497T>C (n.*497T>C) n.687T>C | |
| X | g.38675767T>G | CA412982189 | TSPAN7 | c.504T>G (p.His168Gln) c.555T>G (p.His185Gln) n.448T>G c.594T>G (p.His198Gln) c.*530T>G (n.*530T>G) c.*497T>G (n.*497T>G) n.687T>G | |
| X | g.38675768G>A | CA412982191 | TSPAN7 | c.505G>A (p.Gly169Ser) c.556G>A (p.Gly186Ser) n.449G>A c.595G>A (p.Gly199Ser) c.*531G>A (n.*531G>A) c.*498G>A (n.*498G>A) n.688G>A | |
| X | g.38675768G>C | CA412982192 | TSPAN7 | c.505G>C (p.Gly169Arg) c.556G>C (p.Gly186Arg) n.449G>C c.595G>C (p.Gly199Arg) c.*531G>C (n.*531G>C) c.*498G>C (n.*498G>C) n.688G>C | |
| X | g.38675768G>T | CA412982193 | TSPAN7 | c.505G>T (p.Gly169Cys) c.556G>T (p.Gly186Cys) n.449G>T c.595G>T (p.Gly199Cys) c.*531G>T (n.*531G>T) c.*498G>T (n.*498G>T) n.688G>T | |
| X | g.38675769G>A | CA412982194 | TSPAN7 | c.506G>A (p.Gly169Asp) c.557G>A (p.Gly186Asp) n.450G>A c.596G>A (p.Gly199Asp) c.*532G>A (n.*532G>A) c.*499G>A (n.*499G>A) n.689G>A | |
| X | g.38675769G>C | CA412982195 | TSPAN7 | c.506G>C (p.Gly169Ala) c.557G>C (p.Gly186Ala) n.450G>C c.596G>C (p.Gly199Ala) c.*532G>C (n.*532G>C) c.*499G>C (n.*499G>C) n.689G>C | |
| X | g.38675769G>T | CA412982196 | TSPAN7 | c.506G>T (p.Gly169Val) c.557G>T (p.Gly186Val) n.450G>T c.596G>T (p.Gly199Val) c.*532G>T (n.*532G>T) c.*499G>T (n.*499G>T) n.689G>T | |
| X | g.38675770C>A | CA515685252 | TSPAN7 | c.507C>A (p.Gly169=) c.558C>A (p.Gly186=) n.451C>A c.597C>A (p.Gly199=) c.*533C>A (n.*533C>A) c.*500C>A (n.*500C>A) n.690C>A | |
| X | g.38675770C>G | CA515685248 | TSPAN7 | c.507C>G (p.Gly169=) c.558C>G (p.Gly186=) n.451C>G c.597C>G (p.Gly199=) c.*533C>G (n.*533C>G) c.*500C>G (n.*500C>G) n.690C>G | |
| X | g.38675770C>T | CA515685250 | TSPAN7 | c.507C>T (p.Gly169=) c.558C>T (p.Gly186=) n.451C>T c.597C>T (p.Gly199=) c.*533C>T (n.*533C>T) c.*500C>T (n.*500C>T) n.690C>T | |
| X | g.38675771A>C | CA412982197 | TSPAN7 | c.508A>C (p.Ile170Leu) c.559A>C (p.Ile187Leu) n.452A>C c.598A>C (p.Ile200Leu) c.*534A>C (n.*534A>C) c.*501A>C (n.*501A>C) n.691A>C | |
| X | g.38675771A>G | CA412982199 | TSPAN7 | c.508A>G (p.Ile170Val) c.559A>G (p.Ile187Val) n.452A>G c.598A>G (p.Ile200Val) c.*534A>G (n.*534A>G) c.*501A>G (n.*501A>G) n.691A>G | |
| X | g.38675771A>T | CA412982198 | TSPAN7 | c.508A>T (p.Ile170Phe) c.559A>T (p.Ile187Phe) n.452A>T c.598A>T (p.Ile200Phe) c.*534A>T (n.*534A>T) c.*501A>T (n.*501A>T) n.691A>T | |
| X | g.38675772T>A | CA412982200 | TSPAN7 | c.509T>A (p.Ile170Asn) c.560T>A (p.Ile187Asn) n.453T>A c.599T>A (p.Ile200Asn) c.*535T>A (n.*535T>A) c.*502T>A (n.*502T>A) n.692T>A | |
| X | g.38675772T>C | CA412982201 | TSPAN7 | c.509T>C (p.Ile170Thr) c.560T>C (p.Ile187Thr) n.453T>C c.599T>C (p.Ile200Thr) c.*535T>C (n.*535T>C) c.*502T>C (n.*502T>C) n.692T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.38675772T>G | CA412982202 | TSPAN7 | c.509T>G (p.Ile170Ser) c.560T>G (p.Ile187Ser) n.453T>G c.599T>G (p.Ile200Ser) c.*535T>G (n.*535T>G) c.*502T>G (n.*502T>G) n.692T>G | |
| X | g.38675772T= | CA2424970044 | TSPAN7 | c.509T= (p.Ile170=) c.560T= (p.Ile187=) n.453T= c.599T= (p.Ile200=) c.*535T= (n.*535T=) c.*502T= (n.*502T=) n.692T= | |
| X | g.38675772_38675773delinsTC | CA2424970043 | TSPAN7 | c.509_510delinsTC (p.Ile170=) c.560_561delinsTC (p.Ile187=) n.453_454delinsTC c.599_600delinsTC (p.Ile200=) c.*535_*536delinsTC (n.*535_*536delinsTC) c.*502_*503delinsTC (n.*502_*503delinsTC) n.692_693delinsTC | |
| X | g.38675773C>A | CA515685269 | TSPAN7 | c.510C>A (p.Ile170=) c.561C>A (p.Ile187=) n.454C>A c.600C>A (p.Ile200=) c.*536C>A (n.*536C>A) c.*503C>A (n.*503C>A) n.693C>A | |
| X | g.38675773C>G | CA412982203 | TSPAN7 | c.510C>G (p.Ile170Met) c.561C>G (p.Ile187Met) n.454C>G c.600C>G (p.Ile200Met) c.*536C>G (n.*536C>G) c.*503C>G (n.*503C>G) n.693C>G | |
| X | g.38675773C>T | CA515685268 | TSPAN7 | c.510C>T (p.Ile170=) c.561C>T (p.Ile187=) n.454C>T c.600C>T (p.Ile200=) c.*536C>T (n.*536C>T) c.*503C>T (n.*503C>T) n.693C>T | gnomAD v4 COSMIC COSMIC |
| X | g.38675779dup | CA10386115 | TSPAN7 | c.516dup (p.Ser173GlnfsTer8) c.567dup (p.Ser190GlnfsTer8) n.460dup c.606dup (p.Ser203GlnfsTer8) c.*542dup (n.*542dup) c.*509dup (n.*509dup) n.699dup | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.38675779del | CA10386116 | TSPAN7 | c.516del (p.Ser173AlafsTer4) c.567del (p.Ser190AlafsTer4) n.460del c.606del (p.Ser203AlafsTer4) c.*542del (n.*542del) c.*509del (n.*509del) n.699del | ClinVar dbSNP ExAC gnomAD v4 COSMIC COSMIC COSMIC |
| X | g.38675774C>A | CA412982204 | TSPAN7 | c.511C>A (p.Pro171Thr) c.562C>A (p.Pro188Thr) n.455C>A c.601C>A (p.Pro201Thr) c.*537C>A (n.*537C>A) c.*504C>A (n.*504C>A) n.694C>A | |
| X | g.38675774C>G | CA412982205 | TSPAN7 | c.511C>G (p.Pro171Ala) c.562C>G (p.Pro188Ala) n.455C>G c.601C>G (p.Pro201Ala) c.*537C>G (n.*537C>G) c.*504C>G (n.*504C>G) n.694C>G | |
| X | g.38675774C>T | CA412982206 | TSPAN7 | c.511C>T (p.Pro171Ser) c.562C>T (p.Pro188Ser) n.455C>T c.601C>T (p.Pro201Ser) c.*537C>T (n.*537C>T) c.*504C>T (n.*504C>T) n.694C>T | |
| X | g.38675775C>A | CA328161070 | TSPAN7 | c.512C>A (p.Pro171His) c.563C>A (p.Pro188His) n.456C>A c.602C>A (p.Pro201His) c.*538C>A (n.*538C>A) c.*505C>A (n.*505C>A) n.695C>A | dbSNP |
| X | g.38675775C= | CA2424970045 | TSPAN7 | c.512C= (p.Pro171=) c.563C= (p.Pro188=) n.456C= c.602C= (p.Pro201=) c.*538C= (n.*538C=) c.*505C= (n.*505C=) n.695C= | |
| X | g.38675775C>G | CA412982207 | TSPAN7 | c.512C>G (p.Pro171Arg) c.563C>G (p.Pro188Arg) n.456C>G c.602C>G (p.Pro201Arg) c.*538C>G (n.*538C>G) c.*505C>G (n.*505C>G) n.695C>G | dbSNP |
| X | g.38675775C>T | CA412982208 | TSPAN7 | c.512C>T (p.Pro171Leu) c.563C>T (p.Pro188Leu) n.456C>T c.602C>T (p.Pro201Leu) c.*538C>T (n.*538C>T) c.*505C>T (n.*505C>T) n.695C>T | COSMIC COSMIC COSMIC |
| X | g.38675776C>A | CA515685279 | TSPAN7 | c.513C>A (p.Pro171=) c.564C>A (p.Pro188=) n.457C>A c.603C>A (p.Pro201=) c.*539C>A (n.*539C>A) c.*506C>A (n.*506C>A) n.696C>A | |
| X | g.38675776C>G | CA515685282 | TSPAN7 | c.513C>G (p.Pro171=) c.564C>G (p.Pro188=) n.457C>G c.603C>G (p.Pro201=) c.*539C>G (n.*539C>G) c.*506C>G (n.*506C>G) n.696C>G | |
| X | g.38675776C>T | CA515685284 | TSPAN7 | c.513C>T (p.Pro171=) c.564C>T (p.Pro188=) n.457C>T c.603C>T (p.Pro201=) c.*539C>T (n.*539C>T) c.*506C>T (n.*506C>T) n.696C>T | gnomAD v4 |
| X | g.38675777C>A | CA10386118 | TSPAN7 | c.514C>A (p.Pro172Thr) c.565C>A (p.Pro189Thr) n.458C>A c.604C>A (p.Pro202Thr) c.*540C>A (n.*540C>A) c.*507C>A (n.*507C>A) n.697C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.38675777C= | CA2424970046 | TSPAN7 | c.514C= (p.Pro172=) c.565C= (p.Pro189=) n.458C= c.604C= (p.Pro202=) c.*540C= (n.*540C=) c.*507C= (n.*507C=) n.697C= | |
| X | g.38675777C>G | CA10386119 | TSPAN7 | c.514C>G (p.Pro172Ala) c.565C>G (p.Pro189Ala) n.458C>G c.604C>G (p.Pro202Ala) c.*540C>G (n.*540C>G) c.*507C>G (n.*507C>G) n.697C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.38675777C>T | CA10386117 | TSPAN7 | c.514C>T (p.Pro172Ser) c.565C>T (p.Pro189Ser) n.458C>T c.604C>T (p.Pro202Ser) c.*540C>T (n.*540C>T) c.*507C>T (n.*507C>T) n.697C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.38675778C>A | CA121626 | TSPAN7 | c.515C>A (p.Pro172His) c.566C>A (p.Pro189His) n.459C>A c.605C>A (p.Pro202His) c.*541C>A (n.*541C>A) c.*508C>A (n.*508C>A) n.698C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.38675778C= | CA2424970047 | TSPAN7 | c.515C= (p.Pro172=) c.566C= (p.Pro189=) n.459C= c.605C= (p.Pro202=) c.*541C= (n.*541C=) c.*508C= (n.*508C=) n.698C= | |
| X | g.38675778C>G | CA10386120 | TSPAN7 | c.515C>G (p.Pro172Arg) c.566C>G (p.Pro189Arg) n.459C>G c.605C>G (p.Pro202Arg) c.*541C>G (n.*541C>G) c.*508C>G (n.*508C>G) n.698C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.38675778C>T | CA412982209 | TSPAN7 | c.515C>T (p.Pro172Leu) c.566C>T (p.Pro189Leu) n.459C>T c.605C>T (p.Pro202Leu) c.*541C>T (n.*541C>T) c.*508C>T (n.*508C>T) n.698C>T | |
| X | g.38675779C>A | CA10386121 | TSPAN7 | c.516C>A (p.Pro172=) c.567C>A (p.Pro189=) n.460C>A c.606C>A (p.Pro202=) c.*542C>A (n.*542C>A) c.*509C>A (n.*509C>A) n.699C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.38675779C= | CA2424970048 | TSPAN7 | c.516C= (p.Pro172=) c.567C= (p.Pro189=) n.460C= c.606C= (p.Pro202=) c.*542C= (n.*542C=) c.*509C= (n.*509C=) n.699C= | |
| X | g.38675779C>G | CA515685293 | TSPAN7 | c.516C>G (p.Pro172=) c.567C>G (p.Pro189=) n.460C>G c.606C>G (p.Pro202=) c.*542C>G (n.*542C>G) c.*509C>G (n.*509C>G) n.699C>G | gnomAD v4 |
| X | g.38675779C>T | CA10386122 | TSPAN7 | c.516C>T (p.Pro172=) c.567C>T (p.Pro189=) n.460C>T c.606C>T (p.Pro202=) c.*542C>T (n.*542C>T) c.*509C>T (n.*509C>T) n.699C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.38675779_38675780insCAAACACACCCAACAC | CA2820495006 | TSPAN7 | c.516_517insCAAACACACCCAACAC (p.Ser173GlnfsTer13) c.567_568insCAAACACACCCAACAC (p.Ser190GlnfsTer13) n.460_461insCAAACACACCCAACAC c.606_607insCAAACACACCCAACAC (p.Ser203GlnfsTer13) c.*542_*543insCAAACACACCCAACAC (n.*542_*543insCAAACACACCCAACAC) c.*509_*510insCAAACACACCCAACAC (n.*509_*510insCAAACACACCCAACAC) n.699_700insCAAACACACCCAACAC | |
| X | g.38675780A>C | CA412982210 | TSPAN7 | c.517A>C (p.Ser173Arg) c.568A>C (p.Ser190Arg) n.461A>C c.607A>C (p.Ser203Arg) c.*543A>C (n.*543A>C) c.*510A>C (n.*510A>C) n.700A>C | |
| X | g.38675780A>G | CA412982212 | TSPAN7 | c.517A>G (p.Ser173Gly) c.568A>G (p.Ser190Gly) n.461A>G c.607A>G (p.Ser203Gly) c.*543A>G (n.*543A>G) c.*510A>G (n.*510A>G) n.700A>G | |
| X | g.38675780A>T | CA412982211 | TSPAN7 | c.517A>T (p.Ser173Cys) c.568A>T (p.Ser190Cys) n.461A>T c.607A>T (p.Ser203Cys) c.*543A>T (n.*543A>T) c.*510A>T (n.*510A>T) n.700A>T | |
| X | g.38675781G>A | CA412982213 | TSPAN7 | c.518G>A (p.Ser173Asn) c.569G>A (p.Ser190Asn) n.462G>A c.608G>A (p.Ser203Asn) c.*544G>A (n.*544G>A) c.*511G>A (n.*511G>A) n.701G>A | gnomAD v4 |
| X | g.38675781G>C | CA412982215 | TSPAN7 | c.518G>C (p.Ser173Thr) c.569G>C (p.Ser190Thr) n.462G>C c.608G>C (p.Ser203Thr) c.*544G>C (n.*544G>C) c.*511G>C (n.*511G>C) n.701G>C | |
| X | g.38675781G>T | CA412982214 | TSPAN7 | c.518G>T (p.Ser173Ile) c.569G>T (p.Ser190Ile) n.462G>T c.608G>T (p.Ser203Ile) c.*544G>T (n.*544G>T) c.*511G>T (n.*511G>T) n.701G>T | |
| X | g.38675782C>A | CA412982216 | TSPAN7 | c.519C>A (p.Ser173Arg) c.570C>A (p.Ser190Arg) n.463C>A c.609C>A (p.Ser203Arg) c.*545C>A (n.*545C>A) c.*512C>A (n.*512C>A) n.702C>A | |
| X | g.38675782C>G | CA412982217 | TSPAN7 | c.519C>G (p.Ser173Arg) c.570C>G (p.Ser190Arg) n.463C>G c.609C>G (p.Ser203Arg) c.*545C>G (n.*545C>G) c.*512C>G (n.*512C>G) n.702C>G | |
| X | g.38675782C>T | CA515685304 | TSPAN7 | c.519C>T (p.Ser173=) c.570C>T (p.Ser190=) n.463C>T c.609C>T (p.Ser203=) c.*545C>T (n.*545C>T) c.*512C>T (n.*512C>T) n.702C>T | |
| X | g.38675783T>A | CA412982218 | TSPAN7 | c.520T>A (p.Cys174Ser) c.571T>A (p.Cys191Ser) n.464T>A c.610T>A (p.Cys204Ser) c.*546T>A (n.*546T>A) c.*513T>A (n.*513T>A) n.703T>A | |
| X | g.38675783T>C | CA412982219 | TSPAN7 | c.520T>C (p.Cys174Arg) c.571T>C (p.Cys191Arg) n.464T>C c.610T>C (p.Cys204Arg) c.*546T>C (n.*546T>C) c.*513T>C (n.*513T>C) n.703T>C | |
| X | g.38675783T>G | CA412982220 | TSPAN7 | c.520T>G (p.Cys174Gly) c.571T>G (p.Cys191Gly) n.464T>G c.610T>G (p.Cys204Gly) c.*546T>G (n.*546T>G) c.*513T>G (n.*513T>G) n.703T>G | |
| X | g.38675784G>A | CA412982221 | TSPAN7 | c.521G>A (p.Cys174Tyr) c.572G>A (p.Cys191Tyr) n.465G>A c.611G>A (p.Cys204Tyr) c.*547G>A (n.*547G>A) c.*514G>A (n.*514G>A) n.704G>A | |
| X | g.38675784G>C | CA412982222 | TSPAN7 | c.521G>C (p.Cys174Ser) c.572G>C (p.Cys191Ser) n.465G>C c.611G>C (p.Cys204Ser) c.*547G>C (n.*547G>C) c.*514G>C (n.*514G>C) n.704G>C | |
| X | g.38675784G>T | CA412982223 | TSPAN7 | c.521G>T (p.Cys174Phe) c.572G>T (p.Cys191Phe) n.465G>T c.611G>T (p.Cys204Phe) c.*547G>T (n.*547G>T) c.*514G>T (n.*514G>T) n.704G>T | |
| X | g.38675785C>A | CA412982224 | TSPAN7 | c.522C>A (p.Cys174Ter) c.573C>A (p.Cys191Ter) n.466C>A c.612C>A (p.Cys204Ter) c.*548C>A (n.*548C>A) c.*515C>A (n.*515C>A) n.705C>A | |
| X | g.38675785C>G | CA412982225 | TSPAN7 | c.522C>G (p.Cys174Trp) c.573C>G (p.Cys191Trp) n.466C>G c.612C>G (p.Cys204Trp) c.*548C>G (n.*548C>G) c.*515C>G (n.*515C>G) n.705C>G | |
| X | g.38675785C>T | CA515685316 | TSPAN7 | c.522C>T (p.Cys174=) c.573C>T (p.Cys191=) n.466C>T c.612C>T (p.Cys204=) c.*548C>T (n.*548C>T) c.*515C>T (n.*515C>T) n.705C>T | gnomAD v3 gnomAD v4 |
| X | g.38675786T>A | CA412982228 | TSPAN7 | c.523T>A (p.Cys175Ser) c.574T>A (p.Cys192Ser) n.467T>A c.613T>A (p.Cys205Ser) c.*549T>A (n.*549T>A) c.*516T>A (n.*516T>A) n.706T>A | |
| X | g.38675786T>C | CA412982227 | TSPAN7 | c.523T>C (p.Cys175Arg) c.574T>C (p.Cys192Arg) n.467T>C c.613T>C (p.Cys205Arg) c.*549T>C (n.*549T>C) c.*516T>C (n.*516T>C) n.706T>C | |
| X | g.38675786T>G | CA412982226 | TSPAN7 | c.523T>G (p.Cys175Gly) c.574T>G (p.Cys192Gly) n.467T>G c.613T>G (p.Cys205Gly) c.*549T>G (n.*549T>G) c.*516T>G (n.*516T>G) n.706T>G | |
| X | g.38675787G>A | CA412982229 | TSPAN7 | c.524G>A (p.Cys175Tyr) c.575G>A (p.Cys192Tyr) n.468G>A c.614G>A (p.Cys205Tyr) c.*550G>A (n.*550G>A) c.*517G>A (n.*517G>A) n.707G>A | dbSNP |
| X | g.38675787G>C | CA412982230 | TSPAN7 | c.524G>C (p.Cys175Ser) c.575G>C (p.Cys192Ser) n.468G>C c.614G>C (p.Cys205Ser) c.*550G>C (n.*550G>C) c.*517G>C (n.*517G>C) n.707G>C | |
| X | g.38675787G>T | CA412982231 | TSPAN7 | c.524G>T (p.Cys175Phe) c.575G>T (p.Cys192Phe) n.468G>T c.614G>T (p.Cys205Phe) c.*550G>T (n.*550G>T) c.*517G>T (n.*517G>T) n.707G>T | |
| X | g.38675787_38675788del | CA1132427435 | TSPAN7 | c.524_525del (p.Cys175TyrfsTer5) c.575_576del (p.Cys192TyrfsTer5) n.468_469del c.614_615del (p.Cys205TyrfsTer5) c.*550_*551del (n.*550_*551del) c.*517_*518del (n.*517_*518del) n.707_708del | gnomAD v3 gnomAD v4 |
| X | g.38675788C>A | CA412982232 | TSPAN7 | c.525C>A (p.Cys175Ter) c.576C>A (p.Cys192Ter) n.469C>A c.615C>A (p.Cys205Ter) c.*551C>A (n.*551C>A) c.*518C>A (n.*518C>A) n.708C>A | |
| X | g.38675788C>G | CA412982233 | TSPAN7 | c.525C>G (p.Cys175Trp) c.576C>G (p.Cys192Trp) n.469C>G c.615C>G (p.Cys205Trp) c.*551C>G (n.*551C>G) c.*518C>G (n.*518C>G) n.708C>G | |
| X | g.38675788C>T | CA515685326 | TSPAN7 | c.525C>T (p.Cys175=) c.576C>T (p.Cys192=) n.469C>T c.615C>T (p.Cys205=) c.*551C>T (n.*551C>T) c.*518C>T (n.*518C>T) n.708C>T | |
| X | g.38675788_38675789insTTTTTTTTTA | CA1132427439 | TSPAN7 | c.525_526insTTTTTTTTTA (p.Met176PhefsTer8) c.576_577insTTTTTTTTTA (p.Met193PhefsTer8) n.469_470insTTTTTTTTTA c.615_616insTTTTTTTTTA (p.Met206PhefsTer8) c.*551_*552insTTTTTTTTTA (n.*551_*552insTTTTTTTTTA) c.*518_*519insTTTTTTTTTA (n.*518_*519insTTTTTTTTTA) n.708_709insTTTTTTTTTA | gnomAD v3 gnomAD v4 |
| X | g.38675789A= | CA2424970049 | TSPAN7 | c.526A= (p.Met176=) c.577A= (p.Met193=) n.470A= c.616A= (p.Met206=) c.*552A= (n.*552A=) c.*519A= (n.*519A=) n.709A= | |
| X | g.38675789A>C | CA412982234 | TSPAN7 | c.526A>C (p.Met176Leu) c.577A>C (p.Met193Leu) n.470A>C c.616A>C (p.Met206Leu) c.*552A>C (n.*552A>C) c.*519A>C (n.*519A>C) n.709A>C | |
| X | g.38675789A>G | CA412982235 | TSPAN7 | c.526A>G (p.Met176Val) c.577A>G (p.Met193Val) n.470A>G c.616A>G (p.Met206Val) c.*552A>G (n.*552A>G) c.*519A>G (n.*519A>G) n.709A>G | dbSNP gnomAD v4 |
| X | g.38675789A>T | CA412982236 | TSPAN7 | c.526A>T (p.Met176Leu) c.577A>T (p.Met193Leu) n.470A>T c.616A>T (p.Met206Leu) c.*552A>T (n.*552A>T) c.*519A>T (n.*519A>T) n.709A>T | |
| X | g.38675790T>A | CA412982237 | TSPAN7 | c.527T>A (p.Met176Lys) c.578T>A (p.Met193Lys) n.471T>A c.617T>A (p.Met206Lys) c.*553T>A (n.*553T>A) c.*520T>A (n.*520T>A) n.710T>A | |
| X | g.38675790T>C | CA412982238 | TSPAN7 | c.527T>C (p.Met176Thr) c.578T>C (p.Met193Thr) n.471T>C c.617T>C (p.Met206Thr) c.*553T>C (n.*553T>C) c.*520T>C (n.*520T>C) n.710T>C | |
| X | g.38675790T>G | CA412982239 | TSPAN7 | c.527T>G (p.Met176Arg) c.578T>G (p.Met193Arg) n.471T>G c.617T>G (p.Met206Arg) c.*553T>G (n.*553T>G) c.*520T>G (n.*520T>G) n.710T>G | |
| X | g.38675790_38675791insTTTT | CA1132427442 | TSPAN7 | c.527_528insTTTT (p.Met176IlefsTer6) c.578_579insTTTT (p.Met193IlefsTer6) n.471_472insTTTT c.617_618insTTTT (p.Met206IlefsTer6) c.*553_*554insTTTT (n.*553_*554insTTTT) c.*520_*521insTTTT (n.*520_*521insTTTT) n.710_711insTTTT | gnomAD v3 gnomAD v4 |
| X | g.38675791_38675792insTTTG | CA2571143091 | TSPAN7 | c.528_529insTTTG (p.Asn177PhefsTer5) c.579_580insTTTG (p.Asn194PhefsTer5) n.472_473insTTTG c.618_619insTTTG (p.Asn207PhefsTer5) c.*554_*555insTTTG (n.*554_*555insTTTG) c.*521_*522insTTTG (n.*521_*522insTTTG) n.711_712insTTTG | |
| X | g.38675790_38675799delinsTGAACGAAAC | CA2424970050 | TSPAN7 | c.527_536delinsTGAACGAAAC (p.Met176=) c.578_587delinsTGAACGAAAC (p.Met193=) n.471_480delinsTGAACGAAAC c.617_626delinsTGAACGAAAC (p.Met206=) c.*553_*562delinsTGAACGAAAC (n.*553_*562delinsTGAACGAAAC) c.*520_*529delinsTGAACGAAAC (n.*520_*529delinsTGAACGAAAC) n.710_719delinsTGAACGAAAC | |
| X | g.38675791G>A | CA412982242 | TSPAN7 | c.528G>A (p.Met176Ile) c.579G>A (p.Met193Ile) n.472G>A c.618G>A (p.Met206Ile) c.*554G>A (n.*554G>A) c.*521G>A (n.*521G>A) n.711G>A | |
| X | g.38675791G>C | CA412982241 | TSPAN7 | c.528G>C (p.Met176Ile) c.579G>C (p.Met193Ile) n.472G>C c.618G>C (p.Met206Ile) c.*554G>C (n.*554G>C) c.*521G>C (n.*521G>C) n.711G>C | |
| X | g.38675791G>T | CA412982240 | TSPAN7 | c.528G>T (p.Met176Ile) c.579G>T (p.Met193Ile) n.472G>T c.618G>T (p.Met206Ile) c.*554G>T (n.*554G>T) c.*521G>T (n.*521G>T) n.711G>T | gnomAD v3 gnomAD v4 |
| X | g.38675791_38675799del | CA640919570 | TSPAN7 | c.528_536del (p.Met176_Thr179delinsIle) c.579_587del (p.Met193_Thr196delinsIle) n.472_480del c.618_626del (p.Met206_Thr209delinsIle) c.*554_*562del (n.*554_*562del) c.*521_*529del (n.*521_*529del) n.711_719del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.38675792A>C | CA412982243 | TSPAN7 | c.529A>C (p.Asn177His) c.580A>C (p.Asn194His) n.473A>C c.619A>C (p.Asn207His) c.*555A>C (n.*555A>C) c.*522A>C (n.*522A>C) n.712A>C | |
| X | g.38675792A>G | CA412982244 | TSPAN7 | c.529A>G (p.Asn177Asp) c.580A>G (p.Asn194Asp) n.473A>G c.619A>G (p.Asn207Asp) c.*555A>G (n.*555A>G) c.*522A>G (n.*522A>G) n.712A>G | |
| X | g.38675792A>T | CA412982245 | TSPAN7 | c.529A>T (p.Asn177Tyr) c.580A>T (p.Asn194Tyr) n.473A>T c.619A>T (p.Asn207Tyr) c.*555A>T (n.*555A>T) c.*522A>T (n.*522A>T) n.712A>T | |
| X | g.38675792_38675793insT | CA1132427447 | TSPAN7 | c.529_530insT (p.Asn177IlefsTer4) c.580_581insT (p.Asn194IlefsTer4) n.473_474insT c.619_620insT (p.Asn207IlefsTer4) c.*555_*556insT (n.*555_*556insT) c.*522_*523insT (n.*522_*523insT) n.712_713insT | gnomAD v3 gnomAD v4 |
| X | g.38675793A>C | CA412982246 | TSPAN7 | c.530A>C (p.Asn177Thr) c.581A>C (p.Asn194Thr) n.474A>C c.620A>C (p.Asn207Thr) c.*556A>C (n.*556A>C) c.*523A>C (n.*523A>C) n.713A>C | |
| X | g.38675793A>G | CA412982247 | TSPAN7 | c.530A>G (p.Asn177Ser) c.581A>G (p.Asn194Ser) n.474A>G c.620A>G (p.Asn207Ser) c.*556A>G (n.*556A>G) c.*523A>G (n.*523A>G) n.713A>G | |
| X | g.38675793A>T | CA412982248 | TSPAN7 | c.530A>T (p.Asn177Ile) c.581A>T (p.Asn194Ile) n.474A>T c.620A>T (p.Asn207Ile) c.*556A>T (n.*556A>T) c.*523A>T (n.*523A>T) n.713A>T | gnomAD v3 gnomAD v4 |
| X | g.38675794C>A | CA412982249 | TSPAN7 | c.531C>A (p.Asn177Lys) c.582C>A (p.Asn194Lys) n.475C>A c.621C>A (p.Asn207Lys) c.*557C>A (n.*557C>A) c.*524C>A (n.*524C>A) n.714C>A | |
| X | g.38675794C= | CA2424970051 | TSPAN7 | c.531C= (p.Asn177=) c.582C= (p.Asn194=) n.475C= c.621C= (p.Asn207=) c.*557C= (n.*557C=) c.*524C= (n.*524C=) n.714C= | |
| X | g.38675794C>G | CA412982250 | TSPAN7 | c.531C>G (p.Asn177Lys) c.582C>G (p.Asn194Lys) n.475C>G c.621C>G (p.Asn207Lys) c.*557C>G (n.*557C>G) c.*524C>G (n.*524C>G) n.714C>G | gnomAD v4 |
| X | g.38675794C>T | CA10386123 | TSPAN7 | c.531C>T (p.Asn177=) c.582C>T (p.Asn194=) n.475C>T c.621C>T (p.Asn207=) c.*557C>T (n.*557C>T) c.*524C>T (n.*524C>T) n.714C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| X | g.38675795G>A | CA328161081 | TSPAN7 | c.532G>A (p.Glu178Lys) c.583G>A (p.Glu195Lys) n.476G>A c.622G>A (p.Glu208Lys) c.*558G>A (n.*558G>A) c.*525G>A (n.*525G>A) n.715G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.38675795G>C | CA412982251 | TSPAN7 | c.532G>C (p.Glu178Gln) c.583G>C (p.Glu195Gln) n.476G>C c.622G>C (p.Glu208Gln) c.*558G>C (n.*558G>C) c.*525G>C (n.*525G>C) n.715G>C | gnomAD v3 gnomAD v4 |
| X | g.38675795G= | CA2424970052 | TSPAN7 | c.532G= (p.Glu178=) c.583G= (p.Glu195=) n.476G= c.622G= (p.Glu208=) c.*558G= (n.*558G=) c.*525G= (n.*525G=) n.715G= | |
| X | g.38675795G>T | CA412982252 | TSPAN7 | c.532G>T (p.Glu178Ter) c.583G>T (p.Glu195Ter) n.476G>T c.622G>T (p.Glu208Ter) c.*558G>T (n.*558G>T) c.*525G>T (n.*525G>T) n.715G>T | |
| X | g.38675796A>C | CA412982255 | TSPAN7 | c.533A>C (p.Glu178Ala) c.584A>C (p.Glu195Ala) n.477A>C c.623A>C (p.Glu208Ala) c.*559A>C (n.*559A>C) c.*526A>C (n.*526A>C) n.716A>C | |
| X | g.38675796A>G | CA412982253 | TSPAN7 | c.533A>G (p.Glu178Gly) c.584A>G (p.Glu195Gly) n.477A>G c.623A>G (p.Glu208Gly) c.*559A>G (n.*559A>G) c.*526A>G (n.*526A>G) n.716A>G | |
| X | g.38675796A>T | CA412982254 | TSPAN7 | c.533A>T (p.Glu178Val) c.584A>T (p.Glu195Val) n.477A>T c.623A>T (p.Glu208Val) c.*559A>T (n.*559A>T) c.*526A>T (n.*526A>T) n.716A>T | |
| X | g.38675797_38675798del | CA1132427457 | TSPAN7 | c.534_535del (p.Glu178AspfsTer2) c.585_586del (p.Glu195AspfsTer2) n.478_479del c.624_625del (p.Glu208AspfsTer2) c.*560_*561del (n.*560_*561del) c.*527_*528del (n.*527_*528del) n.717_718del | gnomAD v3 gnomAD v4 |
| X | g.38675797A>C | CA412982256 | TSPAN7 | c.534A>C (p.Glu178Asp) c.585A>C (p.Glu195Asp) n.478A>C c.624A>C (p.Glu208Asp) c.*560A>C (n.*560A>C) c.*527A>C (n.*527A>C) n.717A>C | |
| X | g.38675797A>G | CA515685355 | TSPAN7 | c.534A>G (p.Glu178=) c.585A>G (p.Glu195=) n.478A>G c.624A>G (p.Glu208=) c.*560A>G (n.*560A>G) c.*527A>G (n.*527A>G) n.717A>G | |
| X | g.38675797A>T | CA412982257 | TSPAN7 | c.534A>T (p.Glu178Asp) c.585A>T (p.Glu195Asp) n.478A>T c.624A>T (p.Glu208Asp) c.*560A>T (n.*560A>T) c.*527A>T (n.*527A>T) n.717A>T | gnomAD v3 gnomAD v4 |
| X | g.38675798A>C | CA412982258 | TSPAN7 | c.535A>C (p.Thr179Pro) c.586A>C (p.Thr196Pro) n.479A>C c.625A>C (p.Thr209Pro) c.*561A>C (n.*561A>C) c.*528A>C (n.*528A>C) n.718A>C | |
| X | g.38675798A>G | CA412982259 | TSPAN7 | c.535A>G (p.Thr179Ala) c.586A>G (p.Thr196Ala) n.479A>G c.625A>G (p.Thr209Ala) c.*561A>G (n.*561A>G) c.*528A>G (n.*528A>G) n.718A>G | gnomAD v3 gnomAD v4 |
| X | g.38675798A>T | CA412982260 | TSPAN7 | c.535A>T (p.Thr179Ser) c.586A>T (p.Thr196Ser) n.479A>T c.625A>T (p.Thr209Ser) c.*561A>T (n.*561A>T) c.*528A>T (n.*528A>T) n.718A>T | gnomAD v3 gnomAD v4 |
| X | g.38675799C>A | CA412982261 | TSPAN7 | c.536C>A (p.Thr179Asn) c.587C>A (p.Thr196Asn) n.480C>A c.626C>A (p.Thr209Asn) c.*562C>A (n.*562C>A) c.*529C>A (n.*529C>A) n.719C>A | |
| X | g.38675799C= | CA2424970053 | TSPAN7 | c.536C= (p.Thr179=) c.587C= (p.Thr196=) n.480C= c.626C= (p.Thr209=) c.*562C= (n.*562C=) c.*529C= (n.*529C=) n.719C= | |
| X | g.38675799C>G | CA412982262 | TSPAN7 | c.536C>G (p.Thr179Ser) c.587C>G (p.Thr196Ser) n.480C>G c.626C>G (p.Thr209Ser) c.*562C>G (n.*562C>G) c.*529C>G (n.*529C>G) n.719C>G | |
| X | g.38675799C>T | CA412982263 | TSPAN7 | c.536C>T (p.Thr179Ile) c.587C>T (p.Thr196Ile) n.480C>T c.626C>T (p.Thr209Ile) c.*562C>T (n.*562C>T) c.*529C>T (n.*529C>T) n.719C>T | dbSNP gnomAD v3 gnomAD v4 |
| X | g.38675800del | CA1132427466 | TSPAN7 | c.537del (p.Asp180IlefsTer10) c.588del (p.Asp197IlefsTer10) n.481del c.627del (p.Asp210IlefsTer10) c.*563del (n.*563del) c.*530del (n.*530del) n.720del | gnomAD v3 gnomAD v4 |
| X | g.38675800T>A | CA515685366 | TSPAN7 | c.537T>A (p.Thr179=) c.588T>A (p.Thr196=) n.481T>A c.627T>A (p.Thr209=) c.*563T>A (n.*563T>A) c.*530T>A (n.*530T>A) n.720T>A | |
| X | g.38675800T>C | CA515685367 | TSPAN7 | c.537T>C (p.Thr179=) c.588T>C (p.Thr196=) n.481T>C c.627T>C (p.Thr209=) c.*563T>C (n.*563T>C) c.*530T>C (n.*530T>C) n.720T>C | |
| X | g.38675800T>G | CA515685369 | TSPAN7 | c.537T>G (p.Thr179=) c.588T>G (p.Thr196=) n.481T>G c.627T>G (p.Thr209=) c.*563T>G (n.*563T>G) c.*530T>G (n.*530T>G) n.720T>G | gnomAD v3 gnomAD v4 |
| X | g.38675800_38675802delinsTGA | CA2424970054 | TSPAN7 | c.537_539delinsTGA (p.Thr179=) c.588_590delinsTGA (p.Thr196=) n.481_483delinsTGA c.627_629delinsTGA (p.Thr209=) c.*563_*565delinsTGA (n.*563_*565delinsTGA) c.*530_*532delinsTGA (n.*530_*532delinsTGA) n.720_722delinsTGA | |
| X | g.38675801G>A | CA412982264 | TSPAN7 | c.538G>A (p.Asp180Asn) c.589G>A (p.Asp197Asn) n.482G>A c.628G>A (p.Asp210Asn) c.*564G>A (n.*564G>A) c.*531G>A (n.*531G>A) n.721G>A | |
| X | g.38675801G>C | CA412982265 | TSPAN7 | c.538G>C (p.Asp180His) c.589G>C (p.Asp197His) n.482G>C c.628G>C (p.Asp210His) c.*564G>C (n.*564G>C) c.*531G>C (n.*531G>C) n.721G>C | |
| X | g.38675801G>T | CA412982266 | TSPAN7 | c.538G>T (p.Asp180Tyr) c.589G>T (p.Asp197Tyr) n.482G>T c.628G>T (p.Asp210Tyr) c.*564G>T (n.*564G>T) c.*531G>T (n.*531G>T) n.721G>T | |
| X | g.38675801_38675802del | CA640919577 | TSPAN7 | c.538_539del (p.Asp180LeufsTer2) c.589_590del (p.Asp197LeufsTer2) n.482_483del c.628_629del (p.Asp210LeufsTer2) c.*564_*565del (n.*564_*565del) c.*531_*532del (n.*531_*532del) n.721_722del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.38675802A>C | CA412982268 | TSPAN7 | c.539A>C (p.Asp180Ala) c.590A>C (p.Asp197Ala) n.483A>C c.629A>C (p.Asp210Ala) c.*565A>C (n.*565A>C) c.*532A>C (n.*532A>C) n.722A>C | |
| X | g.38675802A>G | CA412982269 | TSPAN7 | c.539A>G (p.Asp180Gly) c.590A>G (p.Asp197Gly) n.483A>G c.629A>G (p.Asp210Gly) c.*565A>G (n.*565A>G) c.*532A>G (n.*532A>G) n.722A>G | |
| X | g.38675802A>T | CA412982267 | TSPAN7 | c.539A>T (p.Asp180Val) c.590A>T (p.Asp197Val) n.483A>T c.629A>T (p.Asp210Val) c.*565A>T (n.*565A>T) c.*532A>T (n.*532A>T) n.722A>T | |
| X | g.38675802_38675804del | CA1132427475 | TSPAN7 | c.539_541del (p.Asp180_Cys181delinsGly) c.590_592del (p.Asp197_Cys198delinsGly) n.483_485del c.629_631del (p.Asp210_Cys211delinsGly) c.*565_*567del (n.*565_*567del) c.*532_*534del (n.*532_*534del) n.722_724del | gnomAD v3 gnomAD v4 |
| X | g.38675802_38675810del | CA1132427478 | TSPAN7 | c.539_547del (p.Asp180_Pro183delinsAla) c.590_598del (p.Asp197_Pro200delinsAla) n.483_491del c.629_637del (p.Asp210_Pro213delinsAla) c.*565_*573del (n.*565_*573del) c.*532_*540del (n.*532_*540del) n.722_730del | gnomAD v3 gnomAD v4 |
| X | g.38675803T>A | CA412982271 | TSPAN7 | c.540T>A (p.Asp180Glu) c.591T>A (p.Asp197Glu) n.484T>A c.630T>A (p.Asp210Glu) c.*566T>A (n.*566T>A) c.*533T>A (n.*533T>A) n.723T>A | |
| X | g.38675803T>C | CA10386124 | TSPAN7 | c.540T>C (p.Asp180=) c.591T>C (p.Asp197=) n.484T>C c.630T>C (p.Asp210=) c.*566T>C (n.*566T>C) c.*533T>C (n.*533T>C) n.723T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.38675803T>G | CA412982270 | TSPAN7 | c.540T>G (p.Asp180Glu) c.591T>G (p.Asp197Glu) n.484T>G c.630T>G (p.Asp210Glu) c.*566T>G (n.*566T>G) c.*533T>G (n.*533T>G) n.723T>G | |
| X | g.38675803T= | CA2424970055 | TSPAN7 | c.540T= (p.Asp180=) c.591T= (p.Asp197=) n.484T= c.630T= (p.Asp210=) c.*566T= (n.*566T=) c.*533T= (n.*533T=) n.723T= | |
| X | g.38675803_38675811del | CA1132427484 | TSPAN7 | c.540_548del (p.Cys181_Pro183del) c.591_599del (p.Cys198_Pro200del) n.484_492del c.630_638del (p.Cys211_Pro213del) c.*566_*574del (n.*566_*574del) c.*533_*541del (n.*533_*541del) n.723_731del | gnomAD v3 gnomAD v4 |
| X | g.38675804T>A | CA412982272 | TSPAN7 | c.541T>A (p.Cys181Ser) c.592T>A (p.Cys198Ser) n.485T>A c.631T>A (p.Cys211Ser) c.*567T>A (n.*567T>A) c.*534T>A (n.*534T>A) n.724T>A | gnomAD v4 |
| X | g.38675804T>C | CA412982273 | TSPAN7 | c.541T>C (p.Cys181Arg) c.592T>C (p.Cys198Arg) n.485T>C c.631T>C (p.Cys211Arg) c.*567T>C (n.*567T>C) c.*534T>C (n.*534T>C) n.724T>C | |
| X | g.38675804T>G | CA412982274 | TSPAN7 | c.541T>G (p.Cys181Gly) c.592T>G (p.Cys198Gly) n.485T>G c.631T>G (p.Cys211Gly) c.*567T>G (n.*567T>G) c.*534T>G (n.*534T>G) n.724T>G | dbSNP gnomAD v4 |
| X | g.38675804T= | CA2424970056 | TSPAN7 | c.541T= (p.Cys181=) c.592T= (p.Cys198=) n.485T= c.631T= (p.Cys211=) c.*567T= (n.*567T=) c.*534T= (n.*534T=) n.724T= | |
| X | g.38675805G>A | CA412982275 | TSPAN7 | c.542G>A (p.Cys181Tyr) c.593G>A (p.Cys198Tyr) n.486G>A c.632G>A (p.Cys211Tyr) c.*568G>A (n.*568G>A) c.*535G>A (n.*535G>A) n.725G>A | |
| X | g.38675805G>C | CA412982276 | TSPAN7 | c.542G>C (p.Cys181Ser) c.593G>C (p.Cys198Ser) n.486G>C c.632G>C (p.Cys211Ser) c.*568G>C (n.*568G>C) c.*535G>C (n.*535G>C) n.725G>C | gnomAD v3 gnomAD v4 |
| X | g.38675805G= | CA2424970057 | TSPAN7 | c.542G= (p.Cys181=) c.593G= (p.Cys198=) n.486G= c.632G= (p.Cys211=) c.*568G= (n.*568G=) c.*535G= (n.*535G=) n.725G= | |
| X | g.38675805G>T | CA412982277 | TSPAN7 | c.542G>T (p.Cys181Phe) c.593G>T (p.Cys198Phe) n.486G>T c.632G>T (p.Cys211Phe) c.*568G>T (n.*568G>T) c.*535G>T (n.*535G>T) n.725G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.38675806T>A | CA412982278 | TSPAN7 | c.543T>A (p.Cys181Ter) c.594T>A (p.Cys198Ter) n.487T>A c.633T>A (p.Cys211Ter) c.*569T>A (n.*569T>A) c.*536T>A (n.*536T>A) n.726T>A | |
| X | g.38675806T>C | CA515685390 | TSPAN7 | c.543T>C (p.Cys181=) c.594T>C (p.Cys198=) n.487T>C c.633T>C (p.Cys211=) c.*569T>C (n.*569T>C) c.*536T>C (n.*536T>C) n.726T>C | gnomAD v3 gnomAD v4 |
| X | g.38675806T>G | CA412982279 | TSPAN7 | c.543T>G (p.Cys181Trp) c.594T>G (p.Cys198Trp) n.487T>G c.633T>G (p.Cys211Trp) c.*569T>G (n.*569T>G) c.*536T>G (n.*536T>G) n.726T>G | |
| X | g.38675807A= | CA2424970058 | TSPAN7 | c.544A= (p.Asn182=) c.595A= (p.Asn199=) n.488A= c.634A= (p.Asn212=) c.*570A= (n.*570A=) c.*537A= (n.*537A=) n.727A= | |
| X | g.38675807A>C | CA412982280 | TSPAN7 | c.544A>C (p.Asn182His) c.595A>C (p.Asn199His) n.488A>C c.634A>C (p.Asn212His) c.*570A>C (n.*570A>C) c.*537A>C (n.*537A>C) n.727A>C | |
| X | g.38675807A>G | CA412982281 | TSPAN7 | c.544A>G (p.Asn182Asp) c.595A>G (p.Asn199Asp) n.488A>G c.634A>G (p.Asn212Asp) c.*570A>G (n.*570A>G) c.*537A>G (n.*537A>G) n.727A>G | dbSNP |
| X | g.38675807A>T | CA412982282 | TSPAN7 | c.544A>T (p.Asn182Tyr) c.595A>T (p.Asn199Tyr) n.488A>T c.634A>T (p.Asn212Tyr) c.*570A>T (n.*570A>T) c.*537A>T (n.*537A>T) n.727A>T | dbSNP |
| X | g.38675808A= | CA2424970059 | TSPAN7 | c.545A= (p.Asn182=) c.596A= (p.Asn199=) n.489A= c.635A= (p.Asn212=) c.*571A= (n.*571A=) c.*538A= (n.*538A=) n.728A= | |
| X | g.38675808A>C | CA412982285 | TSPAN7 | c.545A>C (p.Asn182Thr) c.596A>C (p.Asn199Thr) n.489A>C c.635A>C (p.Asn212Thr) c.*571A>C (n.*571A>C) c.*538A>C (n.*538A>C) n.728A>C | |
| X | g.38675808A>G | CA412982283 | TSPAN7 | c.545A>G (p.Asn182Ser) c.596A>G (p.Asn199Ser) n.489A>G c.635A>G (p.Asn212Ser) c.*571A>G (n.*571A>G) c.*538A>G (n.*538A>G) n.728A>G | dbSNP |
| X | g.38675808A>T | CA412982284 | TSPAN7 | c.545A>T (p.Asn182Ile) c.596A>T (p.Asn199Ile) n.489A>T c.635A>T (p.Asn212Ile) c.*571A>T (n.*571A>T) c.*538A>T (n.*538A>T) n.728A>T | |
| X | g.38675809T>A | CA412982286 | TSPAN7 | c.546T>A (p.Asn182Lys) c.597T>A (p.Asn199Lys) n.490T>A c.636T>A (p.Asn212Lys) c.*572T>A (n.*572T>A) c.*539T>A (n.*539T>A) n.729T>A | |
| X | g.38675809T>C | CA515685402 | TSPAN7 | c.546T>C (p.Asn182=) c.597T>C (p.Asn199=) n.490T>C c.636T>C (p.Asn212=) c.*572T>C (n.*572T>C) c.*539T>C (n.*539T>C) n.729T>C | gnomAD v3 gnomAD v4 |
| X | g.38675809T>G | CA412982287 | TSPAN7 | c.546T>G (p.Asn182Lys) c.597T>G (p.Asn199Lys) n.490T>G c.636T>G (p.Asn212Lys) c.*572T>G (n.*572T>G) c.*539T>G (n.*539T>G) n.729T>G | |
| X | g.38675809T= | CA2424970060 | TSPAN7 | c.546T= (p.Asn182=) c.597T= (p.Asn199=) n.490T= c.636T= (p.Asn212=) c.*572T= (n.*572T=) c.*539T= (n.*539T=) n.729T= |