Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.14139205_14139206delinsAT | CA2580068488 | TMEM43 | c.*938_*939delinsAT (n.*938_*939delinsAT) c.908_909delinsAT (p.Ser303Asn) n.235_236delinsAT c.144_145delinsAT c.803_804delinsAT (p.Ser268Asn) | ClinVar |
3 | g.14139206C>A | CA351536128 | TMEM43 | c.*939C>A (n.*939C>A) c.909C>A (p.Ser303Arg) n.236C>A c.145C>A c.804C>A (p.Ser268Arg) | |
3 | g.14139206C= | CA1346972744 | TMEM43 | c.*939C= (n.*939C=) c.909C= (p.Ser303=) n.236C= c.145C= c.804C= (p.Ser268=) | |
3 | g.14139206C>G | CA351536129 | TMEM43 | c.*939C>G (n.*939C>G) c.909C>G (p.Ser303Arg) n.236C>G c.145C>G c.804C>G (p.Ser268Arg) | |
3 | g.14139206C>T | CA024796 | TMEM43 | c.*939C>T (n.*939C>T) c.909C>T (p.Ser303=) n.236C>T c.145C>T c.804C>T (p.Ser268=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.14139207A>C | CA351536130 | TMEM43 | c.*940A>C (n.*940A>C) c.910A>C (p.Asn304His) n.237A>C c.146A>C c.805A>C (p.Asn269His) | |
3 | g.14139207A>G | CA351536131 | TMEM43 | c.*940A>G (n.*940A>G) c.910A>G (p.Asn304Asp) n.237A>G c.146A>G c.805A>G (p.Asn269Asp) | |
3 | g.14139207A>T | CA351536132 | TMEM43 | c.*940A>T (n.*940A>T) c.910A>T (p.Asn304Tyr) n.237A>T c.146A>T c.805A>T (p.Asn269Tyr) | |
3 | g.14139208A>C | CA351536133 | TMEM43 | c.*941A>C (n.*941A>C) c.911A>C (p.Asn304Thr) n.238A>C c.147A>C c.806A>C (p.Asn269Thr) | |
3 | g.14139208A>G | CA351536134 | TMEM43 | c.*941A>G (n.*941A>G) c.911A>G (p.Asn304Ser) n.238A>G c.147A>G c.806A>G (p.Asn269Ser) | |
3 | g.14139208A>T | CA351536135 | TMEM43 | c.*941A>T (n.*941A>T) c.911A>T (p.Asn304Ile) n.238A>T c.147A>T c.806A>T (p.Asn269Ile) | gnomAD v4 |
3 | g.14139209C>A | CA351536136 | TMEM43 | c.*942C>A (n.*942C>A) c.912C>A (p.Asn304Lys) n.239C>A c.148C>A c.807C>A (p.Asn269Lys) | gnomAD v4 |
3 | g.14139209C>G | CA351536137 | TMEM43 | c.*942C>G (n.*942C>G) c.912C>G (p.Asn304Lys) n.239C>G c.148C>G c.807C>G (p.Asn269Lys) | |
3 | g.14139209C>T | CA432552536 | TMEM43 | c.*942C>T (n.*942C>T) c.912C>T (p.Asn304=) n.239C>T c.148C>T c.807C>T (p.Asn269=) | gnomAD v4 |
3 | g.14139210T>A | CA351536138 | TMEM43 | c.*943T>A (n.*943T>A) c.913T>A (p.Ser305Thr) n.240T>A c.149T>A c.808T>A (p.Ser270Thr) | COSMIC |
3 | g.14139210T>C | CA351536139 | TMEM43 | c.*943T>C (n.*943T>C) c.913T>C (p.Ser305Pro) n.240T>C c.149T>C c.808T>C (p.Ser270Pro) | |
3 | g.14139210T>G | CA351536140 | TMEM43 | c.*943T>G (n.*943T>G) c.913T>G (p.Ser305Ala) n.240T>G c.149T>G c.808T>G (p.Ser270Ala) | |
3 | g.14139211C>A | CA056247 | TMEM43 | c.*944C>A (n.*944C>A) c.914C>A (p.Ser305Tyr) n.241C>A c.150C>A c.809C>A (p.Ser270Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.14139211C= | CA1346972745 | TMEM43 | c.*944C= (n.*944C=) c.914C= (p.Ser305=) n.241C= c.150C= c.809C= (p.Ser270=) | |
3 | g.14139211C>G | CA351536142 | TMEM43 | c.*944C>G (n.*944C>G) c.914C>G (p.Ser305Cys) n.241C>G c.150C>G c.809C>G (p.Ser270Cys) | |
3 | g.14139211C>T | CA351536141 | TMEM43 | c.*944C>T (n.*944C>T) c.914C>T (p.Ser305Phe) n.241C>T c.150C>T c.809C>T (p.Ser270Phe) | |
3 | g.14139212dup | CA2841116649 | TMEM43 | c.*945dup (n.*945dup) c.915dup (p.Met306HisfsTer?) n.242dup c.151dup c.810dup (p.Met271HisfsTer?) | |
3 | g.14139212C>A | CA432552540 | TMEM43 | c.*945C>A (n.*945C>A) c.915C>A (p.Ser305=) n.242C>A c.151C>A c.810C>A (p.Ser270=) | ClinVar gnomAD v4 |
3 | g.14139212C>G | CA432552543 | TMEM43 | c.*945C>G (n.*945C>G) c.915C>G (p.Ser305=) n.242C>G c.151C>G c.810C>G (p.Ser270=) | |
3 | g.14139212C>T | CA432552544 | TMEM43 | c.*945C>T (n.*945C>T) c.915C>T (p.Ser305=) n.242C>T c.151C>T c.810C>T (p.Ser270=) | |
3 | g.14139213A>C | CA351536146 | TMEM43 | c.*946A>C (n.*946A>C) c.916A>C (p.Met306Leu) n.243A>C c.152A>C c.811A>C (p.Met271Leu) | gnomAD v4 |
3 | g.14139213A>G | CA351536144 | TMEM43 | c.*946A>G (n.*946A>G) c.916A>G (p.Met306Val) n.243A>G c.152A>G c.811A>G (p.Met271Val) | |
3 | g.14139213A>T | CA351536147 | TMEM43 | c.*946A>T (n.*946A>T) c.916A>T (p.Met306Leu) n.243A>T c.152A>T c.811A>T (p.Met271Leu) | |
3 | g.14139214T>A | CA351536148 | TMEM43 | c.*947T>A (n.*947T>A) c.917T>A (p.Met306Lys) n.244T>A c.153T>A c.812T>A (p.Met271Lys) | |
3 | g.14139214T>C | CA351536149 | TMEM43 | c.*947T>C (n.*947T>C) c.917T>C (p.Met306Thr) n.244T>C c.153T>C c.812T>C (p.Met271Thr) | ClinVar dbSNP gnomAD v4 |
3 | g.14139214T>G | CA351536150 | TMEM43 | c.*947T>G (n.*947T>G) c.917T>G (p.Met306Arg) n.244T>G c.153T>G c.812T>G (p.Met271Arg) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.14139214T= | CA1346972747 | TMEM43 | c.*947T= (n.*947T=) c.917T= (p.Met306=) n.244T= c.153T= c.812T= (p.Met271=) | |
3 | g.14139214_14139215delinsCT | CA658657277 | TMEM43 | c.*947_*948delinsCT (n.*947_*948delinsCT) c.917_918delinsCT (p.Met306Thr) n.244_245delinsCT c.153_154delinsCT c.812_813delinsCT (p.Met271Thr) | ClinVar dbSNP |
3 | g.14139214_14139215delinsTG | CA1346972746 | TMEM43 | c.*947_*948delinsTG (n.*947_*948delinsTG) c.917_918delinsTG (p.Met306=) n.244_245delinsTG c.153_154delinsTG c.812_813delinsTG (p.Met271=) | |
3 | g.14139215G>A | CA351536151 | TMEM43 | c.*948G>A (n.*948G>A) c.918G>A (p.Met306Ile) n.245G>A c.154G>A c.813G>A (p.Met271Ile) | |
3 | g.14139215G>C | CA351536152 | TMEM43 | c.*948G>C (n.*948G>C) c.918G>C (p.Met306Ile) n.245G>C c.154G>C c.813G>C (p.Met271Ile) | |
3 | g.14139215G= | CA1346972748 | TMEM43 | c.*948G= (n.*948G=) c.918G= (p.Met306=) n.245G= c.154G= c.813G= (p.Met271=) | |
3 | g.14139215G>T | CA351536153 | TMEM43 | c.*948G>T (n.*948G>T) c.918G>T (p.Met306Ile) n.245G>T c.154G>T c.813G>T (p.Met271Ile) | ClinVar dbSNP gnomAD v4 |
3 | g.14139216A>C | CA351536154 | TMEM43 | c.*949A>C (n.*949A>C) c.919A>C (p.Lys307Gln) n.246A>C c.155A>C c.814A>C (p.Lys272Gln) | |
3 | g.14139216A>G | CA351536155 | TMEM43 | c.*949A>G (n.*949A>G) c.919A>G (p.Lys307Glu) n.246A>G c.155A>G c.814A>G (p.Lys272Glu) | |
3 | g.14139216A>T | CA351536156 | TMEM43 | c.*949A>T (n.*949A>T) c.919A>T (p.Lys307Ter) n.246A>T c.155A>T c.814A>T (p.Lys272Ter) | |
3 | g.14139217A>C | CA351536157 | TMEM43 | c.*950A>C (n.*950A>C) c.920A>C (p.Lys307Thr) n.247A>C c.156A>C c.815A>C (p.Lys272Thr) | |
3 | g.14139217A>G | CA351536158 | TMEM43 | c.*950A>G (n.*950A>G) c.920A>G (p.Lys307Arg) n.247A>G c.156A>G c.815A>G (p.Lys272Arg) | |
3 | g.14139217A>T | CA351536159 | TMEM43 | c.*950A>T (n.*950A>T) c.920A>T (p.Lys307Met) n.247A>T c.156A>T c.815A>T (p.Lys272Met) | |
3 | g.14139218G>A | CA056267 | TMEM43 | c.*951G>A (n.*951G>A) c.921G>A (p.Lys307=) n.248G>A c.157G>A c.816G>A (p.Lys272=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.14139218G>C | CA351536161 | TMEM43 | c.*951G>C (n.*951G>C) c.921G>C (p.Lys307Asn) n.248G>C c.157G>C c.816G>C (p.Lys272Asn) | |
3 | g.14139218G= | CA1346972749 | TMEM43 | c.*951G= (n.*951G=) c.921G= (p.Lys307=) n.248G= c.157G= c.816G= (p.Lys272=) | |
3 | g.14139218G>T | CA351536160 | TMEM43 | c.*951G>T (n.*951G>T) c.921G>T (p.Lys307Asn) n.248G>T c.157G>T c.816G>T (p.Lys272Asn) | |
3 | g.14139219A>C | CA351536162 | TMEM43 | c.*952A>C (n.*952A>C) c.922A>C (p.Thr308Pro) n.249A>C c.158A>C c.817A>C (p.Thr273Pro) | |
3 | g.14139219A>G | CA351536163 | TMEM43 | c.*952A>G (n.*952A>G) c.922A>G (p.Thr308Ala) n.249A>G c.158A>G c.817A>G (p.Thr273Ala) | |
3 | g.14139219A>T | CA351536164 | TMEM43 | c.*952A>T (n.*952A>T) c.922A>T (p.Thr308Ser) n.249A>T c.158A>T c.817A>T (p.Thr273Ser) | |
3 | g.14139220C>A | CA351536165 | TMEM43 | c.*953C>A (n.*953C>A) c.923C>A (p.Thr308Asn) n.250C>A c.159C>A c.818C>A (p.Thr273Asn) | |
3 | g.14139220C>G | CA351536166 | TMEM43 | c.*953C>G (n.*953C>G) c.923C>G (p.Thr308Ser) n.250C>G c.159C>G c.818C>G (p.Thr273Ser) | |
3 | g.14139220C>T | CA351536167 | TMEM43 | c.*953C>T (n.*953C>T) c.923C>T (p.Thr308Ile) n.250C>T c.159C>T c.818C>T (p.Thr273Ile) | ClinVar gnomAD v4 |
3 | g.14139221dup | CA2664570859 | TMEM43 | c.*954dup (n.*954dup) c.924dup (p.Trp309LeufsTer?) n.251dup c.160dup c.819dup (p.Trp274LeufsTer?) | gnomAD v4 |
3 | g.14139220_14139234delinsCCTGGGGCCTGCGGG | CA1346972750 | TMEM43 | c.*953_*967delinsCCTGGGGCCTGCGGG (n.*953_*967delinsCCTGGGGCCTGCGGG) c.923_937delinsCCTGGGGCCTGCGGG (p.Thr308=) n.250_264delinsCCTGGGGCCTGCGGG c.159_173delinsCCTGGGGCCTGCGGG c.818_832delinsCCTGGGGCCTGCGGG (p.Thr273=) | |
3 | g.14139221C>A | CA432552555 | TMEM43 | c.*954C>A (n.*954C>A) c.924C>A (p.Thr308=) n.251C>A c.160C>A c.819C>A (p.Thr273=) | gnomAD v4 |
3 | g.14139221C>G | CA432552556 | TMEM43 | c.*954C>G (n.*954C>G) c.924C>G (p.Thr308=) n.251C>G c.160C>G c.819C>G (p.Thr273=) | ClinVar gnomAD v4 |
3 | g.14139221C>T | CA432552557 | TMEM43 | c.*954C>T (n.*954C>T) c.924C>T (p.Thr308=) n.251C>T c.160C>T c.819C>T (p.Thr273=) | ClinVar |
3 | g.14139222_14139235del | CA1045264446 | TMEM43 | c.*955_*968del (n.*955_*968del) c.925_938del (p.Trp309SerfsTer?) n.252_265del c.161_174del c.820_833del (p.Trp274SerfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.14139222T>A | CA351536168 | TMEM43 | c.*955T>A (n.*955T>A) c.925T>A (p.Trp309Arg) n.252T>A c.161T>A c.820T>A (p.Trp274Arg) | |
3 | g.14139222T>C | CA351536169 | TMEM43 | c.*955T>C (n.*955T>C) c.925T>C (p.Trp309Arg) n.252T>C c.161T>C c.820T>C (p.Trp274Arg) | ClinVar |
3 | g.14139222T>G | CA351536170 | TMEM43 | c.*955T>G (n.*955T>G) c.925T>G (p.Trp309Gly) n.252T>G c.161T>G c.820T>G (p.Trp274Gly) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.14139222T= | CA1346972751 | TMEM43 | c.*955T= (n.*955T=) c.925T= (p.Trp309=) n.252T= c.161T= c.820T= (p.Trp274=) | |
3 | g.14139223G>A | CA351536171 | TMEM43 | c.*956G>A (n.*956G>A) c.926G>A (p.Trp309Ter) n.253G>A c.162G>A c.821G>A (p.Trp274Ter) | gnomAD v4 |
3 | g.14139223G>C | CA351536172 | TMEM43 | c.*956G>C (n.*956G>C) c.926G>C (p.Trp309Ser) n.253G>C c.162G>C c.821G>C (p.Trp274Ser) | |
3 | g.14139223G>T | CA351536173 | TMEM43 | c.*956G>T (n.*956G>T) c.926G>T (p.Trp309Leu) n.253G>T c.162G>T c.821G>T (p.Trp274Leu) | |
3 | g.14139226del | CA2573136053 | TMEM43 | c.*959del (n.*959del) c.929del (p.Gly310AlafsTer17) n.256del c.165del c.824del (p.Gly275AlafsTer17) | ClinVar dbSNP |
3 | g.14139223_14139231delinsGGGGCCTGC | CA1346972752 | TMEM43 | c.*956_*964delinsGGGGCCTGC (n.*956_*964delinsGGGGCCTGC) c.926_934delinsGGGGCCTGC (p.Trp309=) n.253_261delinsGGGGCCTGC c.162_170delinsGGGGCCTGC c.821_829delinsGGGGCCTGC (p.Trp274=) | |
3 | g.14139224G>A | CA351536176 | TMEM43 | c.*957G>A (n.*957G>A) c.927G>A (p.Trp309Ter) n.254G>A c.163G>A c.822G>A (p.Trp274Ter) | |
3 | g.14139224G>C | CA351536175 | TMEM43 | c.*957G>C (n.*957G>C) c.927G>C (p.Trp309Cys) n.254G>C c.163G>C c.822G>C (p.Trp274Cys) | |
3 | g.14139224G>T | CA351536174 | TMEM43 | c.*957G>T (n.*957G>T) c.927G>T (p.Trp309Cys) n.254G>T c.163G>T c.822G>T (p.Trp274Cys) | |
3 | g.14139228_14139235del | CA899784568 | TMEM43 | c.*961_*968del (n.*961_*968del) c.931_938del (p.Leu311SerfsTer?) n.258_265del c.167_174del c.826_833del (p.Leu276SerfsTer?) | ClinVar dbSNP |
3 | g.14139225G>A | CA351536177 | TMEM43 | c.*958G>A (n.*958G>A) c.928G>A (p.Gly310Ser) n.255G>A c.164G>A c.823G>A (p.Gly275Ser) | |
3 | g.14139225G>C | CA351536178 | TMEM43 | c.*958G>C (n.*958G>C) c.928G>C (p.Gly310Arg) n.255G>C c.164G>C c.823G>C (p.Gly275Arg) | |
3 | g.14139225G>T | CA351536179 | TMEM43 | c.*958G>T (n.*958G>T) c.928G>T (p.Gly310Cys) n.255G>T c.164G>T c.823G>T (p.Gly275Cys) | ClinVar gnomAD v4 |
3 | g.14139226G>A | CA351536180 | TMEM43 | c.*959G>A (n.*959G>A) c.929G>A (p.Gly310Asp) n.256G>A c.165G>A c.824G>A (p.Gly275Asp) | gnomAD v4 |
3 | g.14139226G>C | CA351536181 | TMEM43 | c.*959G>C (n.*959G>C) c.929G>C (p.Gly310Ala) n.256G>C c.165G>C c.824G>C (p.Gly275Ala) | |
3 | g.14139226G>T | CA351536182 | TMEM43 | c.*959G>T (n.*959G>T) c.929G>T (p.Gly310Val) n.256G>T c.165G>T c.824G>T (p.Gly275Val) | ClinVar dbSNP gnomAD v4 |
3 | g.14139227C>A | CA432552568 | TMEM43 | c.*960C>A (n.*960C>A) c.930C>A (p.Gly310=) n.257C>A c.166C>A c.825C>A (p.Gly275=) | |
3 | g.14139227C>G | CA432552569 | TMEM43 | c.*960C>G (n.*960C>G) c.930C>G (p.Gly310=) n.257C>G c.166C>G c.825C>G (p.Gly275=) | |
3 | g.14139227C>T | CA432552570 | TMEM43 | c.*960C>T (n.*960C>T) c.930C>T (p.Gly310=) n.257C>T c.166C>T c.825C>T (p.Gly275=) | |
3 | g.14139228C>A | CA351536183 | TMEM43 | c.*961C>A (n.*961C>A) c.931C>A (p.Leu311Met) n.258C>A c.167C>A c.826C>A (p.Leu276Met) | |
3 | g.14139228C= | CA1346972753 | TMEM43 | c.*961C= (n.*961C=) c.931C= (p.Leu311=) n.258C= c.167C= c.826C= (p.Leu276=) | |
3 | g.14139228C>G | CA351536184 | TMEM43 | c.*961C>G (n.*961C>G) c.931C>G (p.Leu311Val) n.258C>G c.167C>G c.826C>G (p.Leu276Val) | |
3 | g.14139228C>T | CA432552571 | TMEM43 | c.*961C>T (n.*961C>T) c.931C>T (p.Leu311=) n.258C>T c.167C>T c.826C>T (p.Leu276=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.14139229T>A | CA351536185 | TMEM43 | c.*962T>A (n.*962T>A) c.932T>A (p.Leu311Gln) n.259T>A c.168T>A c.827T>A (p.Leu276Gln) | |
3 | g.14139229T>C | CA351536186 | TMEM43 | c.*962T>C (n.*962T>C) c.932T>C (p.Leu311Pro) n.259T>C c.168T>C c.827T>C (p.Leu276Pro) | |
3 | g.14139229T>G | CA351536187 | TMEM43 | c.*962T>G (n.*962T>G) c.932T>G (p.Leu311Arg) n.259T>G c.168T>G c.827T>G (p.Leu276Arg) | |
3 | g.14139230G>A | CA432552575 | TMEM43 | c.*963G>A (n.*963G>A) c.933G>A (p.Leu311=) n.260G>A c.169G>A c.828G>A (p.Leu276=) | |
3 | g.14139230G>C | CA432552576 | TMEM43 | c.*963G>C (n.*963G>C) c.933G>C (p.Leu311=) n.260G>C c.169G>C c.828G>C (p.Leu276=) | |
3 | g.14139230G>T | CA432552577 | TMEM43 | c.*963G>T (n.*963G>T) c.933G>T (p.Leu311=) n.260G>T c.169G>T c.828G>T (p.Leu276=) | |
3 | g.14139231C>A | CA432552578 | TMEM43 | c.*964C>A (n.*964C>A) c.934C>A (p.Arg312=) n.261C>A c.170C>A c.829C>A (p.Arg277=) | |
3 | g.14139231C= | CA1346972754 | TMEM43 | c.*964C= (n.*964C=) c.934C= (p.Arg312=) n.261C= c.170C= c.829C= (p.Arg277=) | |
3 | g.14139231C>G | CA351536188 | TMEM43 | c.*964C>G (n.*964C>G) c.934C>G (p.Arg312Gly) n.261C>G c.170C>G c.829C>G (p.Arg277Gly) | gnomAD v4 |
3 | g.14139231C>T | CA024800 | TMEM43 | c.*964C>T (n.*964C>T) c.934C>T (p.Arg312Trp) n.261C>T c.170C>T c.829C>T (p.Arg277Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.14139232G>A | CA69733951 | TMEM43 | c.*965G>A (n.*965G>A) c.935G>A (p.Arg312Gln) n.262G>A c.171G>A c.830G>A (p.Arg277Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.14139232G>C | CA351536189 | TMEM43 | c.*965G>C (n.*965G>C) c.935G>C (p.Arg312Pro) n.262G>C c.171G>C c.830G>C (p.Arg277Pro) | |
3 | g.14139232G= | CA1346972755 | TMEM43 | c.*965G= (n.*965G=) c.935G= (p.Arg312=) n.262G= c.171G= c.830G= (p.Arg277=) | |
3 | g.14139232G>T | CA351536190 | TMEM43 | c.*965G>T (n.*965G>T) c.935G>T (p.Arg312Leu) n.262G>T c.171G>T c.830G>T (p.Arg277Leu) | |
3 | g.14139233G>A | CA432552584 | TMEM43 | c.*966G>A (n.*966G>A) c.936G>A (p.Arg312=) n.263G>A c.172G>A c.831G>A (p.Arg277=) | |
3 | g.14139233G>C | CA432552583 | TMEM43 | c.*966G>C (n.*966G>C) c.936G>C (p.Arg312=) n.263G>C c.172G>C c.831G>C (p.Arg277=) | |
3 | g.14139233G>T | CA432552581 | TMEM43 | c.*966G>T (n.*966G>T) c.936G>T (p.Arg312=) n.263G>T c.172G>T c.831G>T (p.Arg277=) | |
3 | g.14139234G>A | CA351536191 | TMEM43 | c.*967G>A (n.*967G>A) c.937G>A (p.Ala313Thr) n.264G>A c.173G>A c.832G>A (p.Ala278Thr) | ClinVar dbSNP |
3 | g.14139234G>C | CA351536192 | TMEM43 | c.*967G>C (n.*967G>C) c.937G>C (p.Ala313Pro) n.264G>C c.173G>C c.832G>C (p.Ala278Pro) | ClinVar |
3 | g.14139234G>T | CA351536193 | TMEM43 | c.*967G>T (n.*967G>T) c.937G>T (p.Ala313Ser) n.264G>T c.173G>T c.832G>T (p.Ala278Ser) | |
3 | g.14139235C>A | CA351536194 | TMEM43 | c.*968C>A (n.*968C>A) c.938C>A (p.Ala313Glu) n.265C>A c.174C>A c.833C>A (p.Ala278Glu) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.14139235C= | CA1346972756 | TMEM43 | c.*968C= (n.*968C=) c.938C= (p.Ala313=) n.265C= c.174C= c.833C= (p.Ala278=) | |
3 | g.14139235C>G | CA351536195 | TMEM43 | c.*968C>G (n.*968C>G) c.938C>G (p.Ala313Gly) n.265C>G c.174C>G c.833C>G (p.Ala278Gly) | |
3 | g.14139235C>T | CA351536196 | TMEM43 | c.*968C>T (n.*968C>T) c.938C>T (p.Ala313Val) n.265C>T c.174C>T c.833C>T (p.Ala278Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.14139236A>C | CA432552588 | TMEM43 | c.*969A>C (n.*969A>C) c.939A>C (p.Ala313=) n.266A>C c.175A>C c.834A>C (p.Ala278=) | |
3 | g.14139236A>G | CA432552589 | TMEM43 | c.*969A>G (n.*969A>G) c.939A>G (p.Ala313=) n.266A>G c.175A>G c.834A>G (p.Ala278=) | |
3 | g.14139236A>T | CA432552590 | TMEM43 | c.*969A>T (n.*969A>T) c.939A>T (p.Ala313=) n.266A>T c.175A>T c.834A>T (p.Ala278=) | |
3 | g.14139237G>A | CA351536197 | TMEM43 | c.*970G>A (n.*970G>A) c.940G>A (p.Ala314Thr) n.267G>A c.176G>A c.835G>A (p.Ala279Thr) | |
3 | g.14139237G>C | CA351536198 | TMEM43 | c.*970G>C (n.*970G>C) c.940G>C (p.Ala314Pro) n.267G>C c.176G>C c.835G>C (p.Ala279Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.14139237G= | CA1346972757 | TMEM43 | c.*970G= (n.*970G=) c.940G= (p.Ala314=) n.267G= c.176G= c.835G= (p.Ala279=) | |
3 | g.14139237G>T | CA351536199 | TMEM43 | c.*970G>T (n.*970G>T) c.940G>T (p.Ala314Ser) n.267G>T c.176G>T c.835G>T (p.Ala279Ser) | |
3 | g.14139238_14139240del | CA2577516596 | TMEM43 | c.*971_*973del (n.*971_*973del) c.941_943del (p.Ala314del) n.268_270del c.177_179del c.836_838del (p.Ala279del) | |
3 | g.14139238C>A | CA351536200 | TMEM43 | c.*971C>A (n.*971C>A) c.941C>A (p.Ala314Asp) n.268C>A c.177C>A c.836C>A (p.Ala279Asp) | |
3 | g.14139238C>G | CA351536201 | TMEM43 | c.*971C>G (n.*971C>G) c.941C>G (p.Ala314Gly) n.268C>G c.177C>G c.836C>G (p.Ala279Gly) | |
3 | g.14139238C>T | CA351536202 | TMEM43 | c.*971C>T (n.*971C>T) c.941C>T (p.Ala314Val) n.268C>T c.177C>T c.836C>T (p.Ala279Val) | gnomAD v4 |
3 | g.14139239T>A | CA432552595 | TMEM43 | c.*972T>A (n.*972T>A) c.942T>A (p.Ala314=) n.269T>A c.178T>A c.837T>A (p.Ala279=) | |
3 | g.14139239T>C | CA432552600 | TMEM43 | c.*972T>C (n.*972T>C) c.942T>C (p.Ala314=) n.269T>C c.178T>C c.837T>C (p.Ala279=) | |
3 | g.14139239T>G | CA432552596 | TMEM43 | c.*972T>G (n.*972T>G) c.942T>G (p.Ala314=) n.269T>G c.178T>G c.837T>G (p.Ala279=) | |
3 | g.14139240G>A | CA351536204 | TMEM43 | c.*973G>A (n.*973G>A) c.943G>A (p.Gly315Ser) n.270G>A c.179G>A c.838G>A (p.Gly280Ser) | COSMIC |
3 | g.14139240G>C | CA351536205 | TMEM43 | c.*973G>C (n.*973G>C) c.943G>C (p.Gly315Arg) n.270G>C c.179G>C c.838G>C (p.Gly280Arg) | |
3 | g.14139240G>T | CA351536203 | TMEM43 | c.*973G>T (n.*973G>T) c.943G>T (p.Gly315Cys) n.270G>T c.179G>T c.838G>T (p.Gly280Cys) | |
3 | g.14139241G>A | CA351536206 | TMEM43 | c.*974G>A (n.*974G>A) c.944G>A (p.Gly315Asp) n.271G>A c.180G>A c.839G>A (p.Gly280Asp) | |
3 | g.14139241G>C | CA351536208 | TMEM43 | c.*974G>C (n.*974G>C) c.944G>C (p.Gly315Ala) n.271G>C c.180G>C c.839G>C (p.Gly280Ala) | dbSNP |
3 | g.14139241G= | CA1346972758 | TMEM43 | c.*974G= (n.*974G=) c.944G= (p.Gly315=) n.271G= c.180G= c.839G= (p.Gly280=) | |
3 | g.14139241G>T | CA351536207 | TMEM43 | c.*974G>T (n.*974G>T) c.944G>T (p.Gly315Val) n.271G>T c.180G>T c.839G>T (p.Gly280Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.14139242C>A | CA432552602 | TMEM43 | c.*975C>A (n.*975C>A) c.945C>A (p.Gly315=) n.272C>A c.181C>A c.840C>A (p.Gly280=) | |
3 | g.14139242C>G | CA432552603 | TMEM43 | c.*975C>G (n.*975C>G) c.945C>G (p.Gly315=) n.272C>G c.181C>G c.840C>G (p.Gly280=) | |
3 | g.14139242C>T | CA432552604 | TMEM43 | c.*975C>T (n.*975C>T) c.945C>T (p.Gly315=) n.272C>T c.181C>T c.840C>T (p.Gly280=) | gnomAD v4 |
3 | g.14139243T>A | CA056279 | TMEM43 | c.*976T>A (n.*976T>A) c.946T>A (p.Trp316Arg) n.273T>A c.182T>A c.841T>A (p.Trp281Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.14139243T>C | CA351536210 | TMEM43 | c.*976T>C (n.*976T>C) c.946T>C (p.Trp316Arg) n.273T>C c.182T>C c.841T>C (p.Trp281Arg) | gnomAD v4 |
3 | g.14139243T>G | CA351536209 | TMEM43 | c.*976T>G (n.*976T>G) c.946T>G (p.Trp316Gly) n.273T>G c.182T>G c.841T>G (p.Trp281Gly) | |
3 | g.14139243T= | CA1346972759 | TMEM43 | c.*976T= (n.*976T=) c.946T= (p.Trp316=) n.273T= c.182T= c.841T= (p.Trp281=) | |
3 | g.14139244G>A | CA351536211 | TMEM43 | c.*977G>A (n.*977G>A) c.947G>A (p.Trp316Ter) n.274G>A c.183G>A c.842G>A (p.Trp281Ter) | |
3 | g.14139244G>C | CA024803 | TMEM43 | c.*977G>C (n.*977G>C) c.947G>C (p.Trp316Ser) n.274G>C c.183G>C c.842G>C (p.Trp281Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.14139244G= | CA1346972760 | TMEM43 | c.*977G= (n.*977G=) c.947G= (p.Trp316=) n.274G= c.183G= c.842G= (p.Trp281=) | |
3 | g.14139244G>T | CA351536212 | TMEM43 | c.*977G>T (n.*977G>T) c.947G>T (p.Trp316Leu) n.274G>T c.183G>T c.842G>T (p.Trp281Leu) | |
3 | g.14139245G>A | CA351536213 | TMEM43 | c.*978G>A (n.*978G>A) c.948G>A (p.Trp316Ter) n.275G>A c.184G>A c.843G>A (p.Trp281Ter) | |
3 | g.14139245G>C | CA351536214 | TMEM43 | c.*978G>C (n.*978G>C) c.948G>C (p.Trp316Cys) n.275G>C c.184G>C c.843G>C (p.Trp281Cys) | |
3 | g.14139245G>T | CA351536215 | TMEM43 | c.*978G>T (n.*978G>T) c.948G>T (p.Trp316Cys) n.275G>T c.184G>T c.843G>T (p.Trp281Cys) | |
3 | g.14139246A>C | CA351536216 | TMEM43 | c.*979A>C (n.*979A>C) c.949A>C (p.Met317Leu) n.276A>C c.185A>C c.844A>C (p.Met282Leu) | |
3 | g.14139246A>G | CA351536217 | TMEM43 | c.*979A>G (n.*979A>G) c.949A>G (p.Met317Val) n.276A>G c.185A>G c.844A>G (p.Met282Val) | |
3 | g.14139246A>T | CA351536218 | TMEM43 | c.*979A>T (n.*979A>T) c.949A>T (p.Met317Leu) n.276A>T c.185A>T c.844A>T (p.Met282Leu) | |
3 | g.14139247T>A | CA351536219 | TMEM43 | c.*980T>A (n.*980T>A) c.950T>A (p.Met317Lys) n.277T>A c.186T>A c.845T>A (p.Met282Lys) | |
3 | g.14139247T>C | CA351536220 | TMEM43 | c.*980T>C (n.*980T>C) c.950T>C (p.Met317Thr) n.277T>C c.186T>C c.845T>C (p.Met282Thr) | gnomAD v4 |
3 | g.14139247T>G | CA351536221 | TMEM43 | c.*980T>G (n.*980T>G) c.950T>G (p.Met317Arg) n.277T>G c.186T>G c.845T>G (p.Met282Arg) | |
3 | g.14139248G>A | CA351536222 | TMEM43 | c.*981G>A (n.*981G>A) c.951G>A (p.Met317Ile) n.278G>A c.187G>A c.846G>A (p.Met282Ile) | |
3 | g.14139248G>C | CA351536224 | TMEM43 | c.*981G>C (n.*981G>C) c.951G>C (p.Met317Ile) n.278G>C c.187G>C c.846G>C (p.Met282Ile) | |
3 | g.14139248G>T | CA351536223 | TMEM43 | c.*981G>T (n.*981G>T) c.951G>T (p.Met317Ile) n.278G>T c.187G>T c.846G>T (p.Met282Ile) | |
3 | g.14139249G>A | CA351536225 | TMEM43 | c.*982G>A (n.*982G>A) c.952G>A (p.Ala318Thr) n.279G>A c.188G>A c.847G>A (p.Ala283Thr) | |
3 | g.14139249G>C | CA351536226 | TMEM43 | c.*982G>C (n.*982G>C) c.952G>C (p.Ala318Pro) n.279G>C c.188G>C c.847G>C (p.Ala283Pro) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.14139249G= | CA1346972761 | TMEM43 | c.*982G= (n.*982G=) c.952G= (p.Ala318=) n.279G= c.188G= c.847G= (p.Ala283=) | |
3 | g.14139249G>T | CA351536227 | TMEM43 | c.*982G>T (n.*982G>T) c.952G>T (p.Ala318Ser) n.279G>T c.188G>T c.847G>T (p.Ala283Ser) | |
3 | g.14139250C>A | CA351536228 | TMEM43 | c.*983C>A (n.*983C>A) c.953C>A (p.Ala318Asp) n.280C>A c.189C>A c.848C>A (p.Ala283Asp) | |
3 | g.14139250C= | CA1346972762 | TMEM43 | c.*983C= (n.*983C=) c.953C= (p.Ala318=) n.280C= c.189C= c.848C= (p.Ala283=) | |
3 | g.14139250C>G | CA351536229 | TMEM43 | c.*983C>G (n.*983C>G) c.953C>G (p.Ala318Gly) n.280C>G c.189C>G c.848C>G (p.Ala283Gly) | |
3 | g.14139250C>T | CA024805 | TMEM43 | c.*983C>T (n.*983C>T) c.953C>T (p.Ala318Val) n.280C>T c.189C>T c.848C>T (p.Ala283Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.14139251C>A | CA432552616 | TMEM43 | c.*984C>A (n.*984C>A) c.954C>A (p.Ala318=) n.281C>A c.190C>A c.849C>A (p.Ala283=) | |
3 | g.14139251C>G | CA432552617 | TMEM43 | c.*984C>G (n.*984C>G) c.954C>G (p.Ala318=) n.281C>G c.190C>G c.849C>G (p.Ala283=) | |
3 | g.14139251C>T | CA432552618 | TMEM43 | c.*984C>T (n.*984C>T) c.954C>T (p.Ala318=) n.281C>T c.190C>T c.849C>T (p.Ala283=) | |
3 | g.14139255_14139260del | CA2577516597 | TMEM43 | c.*988_*993del (n.*988_*993del) c.958_963del (p.Phe320_Met321del) n.285_290del c.194_199del c.853_858del (p.Phe285_Met286del) | |
3 | g.14139252A>C | CA351536230 | TMEM43 | c.*985A>C (n.*985A>C) c.955A>C (p.Met319Leu) n.282A>C c.191A>C c.850A>C (p.Met284Leu) | |
3 | g.14139252A>G | CA351536231 | TMEM43 | c.*985A>G (n.*985A>G) c.955A>G (p.Met319Val) n.282A>G c.191A>G c.850A>G (p.Met284Val) | ClinVar gnomAD v4 |
3 | g.14139252A>T | CA351536232 | TMEM43 | c.*985A>T (n.*985A>T) c.955A>T (p.Met319Leu) n.282A>T c.191A>T c.850A>T (p.Met284Leu) | |
3 | g.14139253T>A | CA351536234 | TMEM43 | c.*986T>A (n.*986T>A) c.956T>A (p.Met319Lys) n.283T>A c.192T>A c.851T>A (p.Met284Lys) | |
3 | g.14139253T>C | CA056306 | TMEM43 | c.*986T>C (n.*986T>C) c.956T>C (p.Met319Thr) n.283T>C c.192T>C c.851T>C (p.Met284Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.14139253T>G | CA351536233 | TMEM43 | c.*986T>G (n.*986T>G) c.956T>G (p.Met319Arg) n.283T>G c.192T>G c.851T>G (p.Met284Arg) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.14139253T= | CA1346972763 | TMEM43 | c.*986T= (n.*986T=) c.956T= (p.Met319=) n.283T= c.192T= c.851T= (p.Met284=) | |
3 | g.14139254G>A | CA351536235 | TMEM43 | c.*987G>A (n.*987G>A) c.957G>A (p.Met319Ile) n.284G>A c.193G>A c.852G>A (p.Met284Ile) | |
3 | g.14139254G>C | CA351536236 | TMEM43 | c.*987G>C (n.*987G>C) c.957G>C (p.Met319Ile) n.284G>C c.193G>C c.852G>C (p.Met284Ile) | |
3 | g.14139254G>T | CA351536237 | TMEM43 | c.*987G>T (n.*987G>T) c.957G>T (p.Met319Ile) n.284G>T c.193G>T c.852G>T (p.Met284Ile) | |
3 | g.14139255T>A | CA351536238 | TMEM43 | c.*988T>A (n.*988T>A) c.958T>A (p.Phe320Ile) n.285T>A c.194T>A c.853T>A (p.Phe285Ile) | |
3 | g.14139255T>C | CA351536239 | TMEM43 | c.*988T>C (n.*988T>C) c.958T>C (p.Phe320Leu) n.285T>C c.194T>C c.853T>C (p.Phe285Leu) | |
3 | g.14139255T>G | CA351536240 | TMEM43 | c.*988T>G (n.*988T>G) c.958T>G (p.Phe320Val) n.285T>G c.194T>G c.853T>G (p.Phe285Val) | |
3 | g.14139256T>A | CA351536241 | TMEM43 | c.*989T>A (n.*989T>A) c.959T>A (p.Phe320Tyr) n.286T>A c.195T>A c.854T>A (p.Phe285Tyr) | |
3 | g.14139256T>C | CA351536242 | TMEM43 | c.*989T>C (n.*989T>C) c.959T>C (p.Phe320Ser) n.286T>C c.195T>C c.854T>C (p.Phe285Ser) | |
3 | g.14139256T>G | CA69733957 | TMEM43 | c.*989T>G (n.*989T>G) c.959T>G (p.Phe320Cys) n.286T>G c.195T>G c.854T>G (p.Phe285Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.14139256T= | CA1346972764 | TMEM43 | c.*989T= (n.*989T=) c.959T= (p.Phe320=) n.286T= c.195T= c.854T= (p.Phe285=) | |
3 | g.14139257C>A | CA351536243 | TMEM43 | c.*990C>A (n.*990C>A) c.960C>A (p.Phe320Leu) n.287C>A c.196C>A c.855C>A (p.Phe285Leu) | gnomAD v4 |
3 | g.14139257C>G | CA351536244 | TMEM43 | c.*990C>G (n.*990C>G) c.960C>G (p.Phe320Leu) n.287C>G c.196C>G c.855C>G (p.Phe285Leu) | |
3 | g.14139257C>T | CA432552626 | TMEM43 | c.*990C>T (n.*990C>T) c.960C>T (p.Phe320=) n.287C>T c.196C>T c.855C>T (p.Phe285=) | |
3 | g.14139258A= | CA1346972765 | TMEM43 | c.*991A= (n.*991A=) c.961A= (p.Met321=) n.288A= c.197A= c.856A= (p.Met286=) | |
3 | g.14139258A>C | CA351536246 | TMEM43 | c.*991A>C (n.*991A>C) c.961A>C (p.Met321Leu) n.288A>C c.197A>C c.856A>C (p.Met286Leu) | |
3 | g.14139258A>G | CA024808 | TMEM43 | c.*991A>G (n.*991A>G) c.961A>G (p.Met321Val) n.288A>G c.197A>G c.856A>G (p.Met286Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.14139258A>T | CA351536245 | TMEM43 | c.*991A>T (n.*991A>T) c.961A>T (p.Met321Leu) n.288A>T c.197A>T c.856A>T (p.Met286Leu) | |
3 | g.14139259T>A | CA351536247 | TMEM43 | c.*992T>A (n.*992T>A) c.962T>A (p.Met321Lys) n.289T>A c.198T>A c.857T>A (p.Met286Lys) | |
3 | g.14139259T>C | CA351536248 | TMEM43 | c.*992T>C (n.*992T>C) c.962T>C (p.Met321Thr) n.289T>C c.198T>C c.857T>C (p.Met286Thr) | |
3 | g.14139259T>G | CA351536249 | TMEM43 | c.*992T>G (n.*992T>G) c.962T>G (p.Met321Arg) n.289T>G c.198T>G c.857T>G (p.Met286Arg) | |
3 | g.14139260G>A | CA351536250 | TMEM43 | c.*993G>A (n.*993G>A) c.963G>A (p.Met321Ile) n.290G>A c.199G>A c.858G>A (p.Met286Ile) | |
3 | g.14139260G>C | CA351536251 | TMEM43 | c.*993G>C (n.*993G>C) c.963G>C (p.Met321Ile) n.290G>C c.199G>C c.858G>C (p.Met286Ile) | dbSNP |
3 | g.14139260G= | CA1346972766 | TMEM43 | c.*993G= (n.*993G=) c.963G= (p.Met321=) n.290G= c.199G= c.858G= (p.Met286=) | |
3 | g.14139260G>T | CA351536252 | TMEM43 | c.*993G>T (n.*993G>T) c.963G>T (p.Met321Ile) n.290G>T c.199G>T c.858G>T (p.Met286Ile) | |
3 | g.14139261G>A | CA351536253 | TMEM43 | c.*994G>A (n.*994G>A) c.964G>A (p.Gly322Ser) n.291G>A c.200G>A c.859G>A (p.Gly287Ser) | ClinVar dbSNP |
3 | g.14139261G>C | CA351536254 | TMEM43 | c.*994G>C (n.*994G>C) c.964G>C (p.Gly322Arg) n.291G>C c.200G>C c.859G>C (p.Gly287Arg) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.14139261G= | CA1346972767 | TMEM43 | c.*994G= (n.*994G=) c.964G= (p.Gly322=) n.291G= c.200G= c.859G= (p.Gly287=) | |
3 | g.14139261G>T | CA351536255 | TMEM43 | c.*994G>T (n.*994G>T) c.964G>T (p.Gly322Cys) n.291G>T c.200G>T c.859G>T (p.Gly287Cys) | |
3 | g.14139262G>A | CA351536256 | TMEM43 | c.*995G>A (n.*995G>A) c.965G>A (p.Gly322Asp) n.292G>A c.201G>A c.860G>A (p.Gly287Asp) | |
3 | g.14139262G>C | CA351536257 | TMEM43 | c.*995G>C (n.*995G>C) c.965G>C (p.Gly322Ala) n.292G>C c.201G>C c.860G>C (p.Gly287Ala) | gnomAD v4 |
3 | g.14139262G= | CA1346972768 | TMEM43 | c.*995G= (n.*995G=) c.965G= (p.Gly322=) n.292G= c.201G= c.860G= (p.Gly287=) | |
3 | g.14139262G>T | CA351536258 | TMEM43 | c.*995G>T (n.*995G>T) c.965G>T (p.Gly322Val) n.292G>T c.201G>T c.860G>T (p.Gly287Val) | ClinVar dbSNP |
3 | g.14139263C>A | CA432552637 | TMEM43 | c.*996C>A (n.*996C>A) c.966C>A (p.Gly322=) n.293C>A c.202C>A c.861C>A (p.Gly287=) | |
3 | g.14139263C= | CA1346972769 | TMEM43 | c.*996C= (n.*996C=) c.966C= (p.Gly322=) n.293C= c.202C= c.861C= (p.Gly287=) | |
3 | g.14139263C>G | CA432552638 | TMEM43 | c.*996C>G (n.*996C>G) c.966C>G (p.Gly322=) n.293C>G c.202C>G c.861C>G (p.Gly287=) | |
3 | g.14139263C>T | CA432552639 | TMEM43 | c.*996C>T (n.*996C>T) c.966C>T (p.Gly322=) n.293C>T c.202C>T c.861C>T (p.Gly287=) | dbSNP gnomAD v4 |
3 | g.14139264C>A | CA351536260 | TMEM43 | c.*997C>A (n.*997C>A) c.967C>A (p.Leu323Ile) n.294C>A c.203C>A c.862C>A (p.Leu288Ile) | |
3 | g.14139264C>G | CA351536261 | TMEM43 | c.*997C>G (n.*997C>G) c.967C>G (p.Leu323Val) n.294C>G c.203C>G c.862C>G (p.Leu288Val) | gnomAD v4 |
3 | g.14139264C>T | CA351536259 | TMEM43 | c.*997C>T (n.*997C>T) c.967C>T (p.Leu323Phe) n.294C>T c.203C>T c.862C>T (p.Leu288Phe) | COSMIC |
3 | g.14139265T>A | CA351536264 | TMEM43 | c.*998T>A (n.*998T>A) c.968T>A (p.Leu323His) n.295T>A c.204T>A c.863T>A (p.Leu288His) | |
3 | g.14139265T>C | CA351536262 | TMEM43 | c.*998T>C (n.*998T>C) c.968T>C (p.Leu323Pro) n.295T>C c.204T>C c.863T>C (p.Leu288Pro) | |
3 | g.14139265T>G | CA351536263 | TMEM43 | c.*998T>G (n.*998T>G) c.968T>G (p.Leu323Arg) n.295T>G c.204T>G c.863T>G (p.Leu288Arg) | |
3 | g.14139266C>A | CA432552642 | TMEM43 | c.*999C>A (n.*999C>A) c.969C>A (p.Leu323=) n.296C>A c.205C>A c.864C>A (p.Leu288=) | dbSNP gnomAD v4 |
3 | g.14139266C= | CA1346972770 | TMEM43 | c.*999C= (n.*999C=) c.969C= (p.Leu323=) n.296C= c.205C= c.864C= (p.Leu288=) | |
3 | g.14139266C>G | CA432552644 | TMEM43 | c.*999C>G (n.*999C>G) c.969C>G (p.Leu323=) n.296C>G c.205C>G c.864C>G (p.Leu288=) | |
3 | g.14139266C>T | CA432552645 | TMEM43 | c.*999C>T (n.*999C>T) c.969C>T (p.Leu323=) n.296C>T c.205C>T c.864C>T (p.Leu288=) | |
3 | g.14139266_14139267delinsCA | CA1346972771 | TMEM43 | c.*999_*1000delinsCA (n.*999_*1000delinsCA) c.969_970delinsCA (p.Leu323=) n.296_297delinsCA c.205_206delinsCA c.864_865delinsCA (p.Leu288=) | |
3 | g.14139267A= | CA1346972772 | TMEM43 | c.*1000A= (n.*1000A=) c.970A= (p.Asn324=) n.297A= c.206A= c.865A= (p.Asn289=) | |
3 | g.14139267A>C | CA351536265 | TMEM43 | c.*1000A>C (n.*1000A>C) c.970A>C (p.Asn324His) n.297A>C c.206A>C c.865A>C (p.Asn289His) | |
3 | g.14139267A>G | CA351536266 | TMEM43 | c.*1000A>G (n.*1000A>G) c.970A>G (p.Asn324Asp) n.297A>G c.206A>G c.865A>G (p.Asn289Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.14139267A>T | CA351536267 | TMEM43 | c.*1000A>T (n.*1000A>T) c.970A>T (p.Asn324Tyr) n.297A>T c.206A>T c.865A>T (p.Asn289Tyr) | |
3 | g.14139268del | CA658796248 | TMEM43 | c.*1001del (n.*1001del) c.971del (p.Asn324ThrfsTer3) n.298del c.207del c.866del (p.Asn289ThrfsTer3) | ClinVar dbSNP gnomAD v4 |
3 | g.14139268A>C | CA351536268 | TMEM43 | c.*1001A>C (n.*1001A>C) c.971A>C (p.Asn324Thr) n.298A>C c.207A>C c.866A>C (p.Asn289Thr) | |
3 | g.14139268A>G | CA351536269 | TMEM43 | c.*1001A>G (n.*1001A>G) c.971A>G (p.Asn324Ser) n.298A>G c.207A>G c.866A>G (p.Asn289Ser) | ClinVar |
3 | g.14139268A>T | CA351536270 | TMEM43 | c.*1001A>T (n.*1001A>T) c.971A>T (p.Asn324Ile) n.298A>T c.207A>T c.866A>T (p.Asn289Ile) | ClinVar |
3 | g.14139269C>A | CA351536271 | TMEM43 | c.*1002C>A (n.*1002C>A) c.972C>A (p.Asn324Lys) n.299C>A c.208C>A c.867C>A (p.Asn289Lys) | |
3 | g.14139269C= | CA1346972773 | TMEM43 | c.*1002C= (n.*1002C=) c.972C= (p.Asn324=) n.299C= c.208C= c.867C= (p.Asn289=) | |
3 | g.14139269C>G | CA351536272 | TMEM43 | c.*1002C>G (n.*1002C>G) c.972C>G (p.Asn324Lys) n.299C>G c.208C>G c.867C>G (p.Asn289Lys) | |
3 | g.14139269C>T | CA056316 | TMEM43 | c.*1002C>T (n.*1002C>T) c.972C>T (p.Asn324=) n.299C>T c.208C>T c.867C>T (p.Asn289=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.14139270C>A | CA351536274 | TMEM43 | c.*1003C>A (n.*1003C>A) c.973C>A (p.Leu325Ile) n.300C>A c.209C>A c.868C>A (p.Leu290Ile) | gnomAD v4 |
3 | g.14139270C= | CA1346972774 | TMEM43 | c.*1003C= (n.*1003C=) c.973C= (p.Leu325=) n.300C= c.209C= c.868C= (p.Leu290=) | |
3 | g.14139270C>G | CA351536273 | TMEM43 | c.*1003C>G (n.*1003C>G) c.973C>G (p.Leu325Val) n.300C>G c.209C>G c.868C>G (p.Leu290Val) | |
3 | g.14139270C>T | CA056324 | TMEM43 | c.*1003C>T (n.*1003C>T) c.973C>T (p.Leu325Phe) n.300C>T c.209C>T c.868C>T (p.Leu290Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.14139271T>A | CA351536275 | TMEM43 | c.*1004T>A (n.*1004T>A) c.974T>A (p.Leu325His) n.301T>A c.210T>A c.869T>A (p.Leu290His) | |
3 | g.14139271T>C | CA351536276 | TMEM43 | c.*1004T>C (n.*1004T>C) c.974T>C (p.Leu325Pro) n.301T>C c.210T>C c.869T>C (p.Leu290Pro) | |
3 | g.14139271T>G | CA351536277 | TMEM43 | c.*1004T>G (n.*1004T>G) c.974T>G (p.Leu325Arg) n.301T>G c.210T>G c.869T>G (p.Leu290Arg) | |
3 | g.14139272T>A | CA432552651 | TMEM43 | c.*1005T>A (n.*1005T>A) c.975T>A (p.Leu325=) n.302T>A c.211T>A c.870T>A (p.Leu290=) | |
3 | g.14139272T>C | CA432552652 | TMEM43 | c.*1005T>C (n.*1005T>C) c.975T>C (p.Leu325=) n.302T>C c.211T>C c.870T>C (p.Leu290=) | |
3 | g.14139272T>G | CA432552654 | TMEM43 | c.*1005T>G (n.*1005T>G) c.975T>G (p.Leu325=) n.302T>G c.211T>G c.870T>G (p.Leu290=) | |
3 | g.14139273A>C | CA351536278 | TMEM43 | c.*1006A>C (n.*1006A>C) c.976A>C (p.Met326Leu) n.303A>C c.212A>C c.871A>C (p.Met291Leu) | |
3 | g.14139273A>G | CA351536279 | TMEM43 | c.*1006A>G (n.*1006A>G) c.976A>G (p.Met326Val) n.303A>G c.212A>G c.871A>G (p.Met291Val) | |
3 | g.14139273A>T | CA351536280 | TMEM43 | c.*1006A>T (n.*1006A>T) c.976A>T (p.Met326Leu) n.303A>T c.212A>T c.871A>T (p.Met291Leu) | |
3 | g.14139273dup | CA2664570860 | TMEM43 | c.*1006dup (n.*1006dup) c.976dup (p.Met326AsnfsTer?) n.303dup c.212dup c.871dup (p.Met291AsnfsTer?) | gnomAD v4 |
3 | g.14139274T>A | CA351536281 | TMEM43 | c.*1007T>A (n.*1007T>A) c.977T>A (p.Met326Lys) n.304T>A c.213T>A c.872T>A (p.Met291Lys) | ClinVar |
3 | g.14139274T>C | CA056336 | TMEM43 | c.*1007T>C (n.*1007T>C) c.977T>C (p.Met326Thr) n.304T>C c.213T>C c.872T>C (p.Met291Thr) | dbSNP ExAC gnomAD v4 |
3 | g.14139274T>G | CA351536282 | TMEM43 | c.*1007T>G (n.*1007T>G) c.977T>G (p.Met326Arg) n.304T>G c.213T>G c.872T>G (p.Met291Arg) | |
3 | g.14139274T= | CA1346972775 | TMEM43 | c.*1007T= (n.*1007T=) c.977T= (p.Met326=) n.304T= c.213T= c.872T= (p.Met291=) | |
3 | g.14139275G>A | CA351536283 | TMEM43 | c.*1008G>A (n.*1008G>A) c.978G>A (p.Met326Ile) n.305G>A c.214G>A c.873G>A (p.Met291Ile) | |
3 | g.14139275G>C | CA351536284 | TMEM43 | c.*1008G>C (n.*1008G>C) c.978G>C (p.Met326Ile) n.305G>C c.214G>C c.873G>C (p.Met291Ile) | |
3 | g.14139275G= | CA1346972776 | TMEM43 | c.*1008G= (n.*1008G=) c.978G= (p.Met326=) n.305G= c.214G= c.873G= (p.Met291=) | |
3 | g.14139275G>T | CA351536285 | TMEM43 | c.*1008G>T (n.*1008G>T) c.978G>T (p.Met326Ile) n.305G>T c.214G>T c.873G>T (p.Met291Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.14139276A>C | CA351536287 | TMEM43 | c.*1009A>C (n.*1009A>C) c.979A>C (p.Thr327Pro) n.306A>C c.215A>C c.874A>C (p.Thr292Pro) | |
3 | g.14139276A>G | CA351536288 | TMEM43 | c.*1009A>G (n.*1009A>G) c.979A>G (p.Thr327Ala) n.306A>G c.215A>G c.874A>G (p.Thr292Ala) | |
3 | g.14139276A>T | CA351536286 | TMEM43 | c.*1009A>T (n.*1009A>T) c.979A>T (p.Thr327Ser) n.306A>T c.215A>T c.874A>T (p.Thr292Ser) | |
3 | g.14139277C>A | CA351536289 | TMEM43 | c.*1010C>A (n.*1010C>A) c.980C>A (p.Thr327Lys) n.307C>A c.216C>A c.875C>A (p.Thr292Lys) | gnomAD v4 |
3 | g.14139277C= | CA1346972777 | TMEM43 | c.*1010C= (n.*1010C=) c.980C= (p.Thr327=) n.307C= c.216C= c.875C= (p.Thr292=) | |
3 | g.14139277C>G | CA056347 | TMEM43 | c.*1010C>G (n.*1010C>G) c.980C>G (p.Thr327Arg) n.307C>G c.216C>G c.875C>G (p.Thr292Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.14139277C>T | CA351536290 | TMEM43 | c.*1010C>T (n.*1010C>T) c.980C>T (p.Thr327Ile) n.307C>T c.216C>T c.875C>T (p.Thr292Ile) | |
3 | g.14139278A= | CA1346972778 | TMEM43 | c.*1011A= (n.*1011A=) c.981A= (p.Thr327=) n.308A= c.217A= c.876A= (p.Thr292=) | |
3 | g.14139278A>C | CA432552657 | TMEM43 | c.*1011A>C (n.*1011A>C) c.981A>C (p.Thr327=) n.308A>C c.217A>C c.876A>C (p.Thr292=) | |
3 | g.14139278A>G | CA056357 | TMEM43 | c.*1011A>G (n.*1011A>G) c.981A>G (p.Thr327=) n.308A>G c.217A>G c.876A>G (p.Thr292=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.14139278A>T | CA432552658 | TMEM43 | c.*1011A>T (n.*1011A>T) c.981A>T (p.Thr327=) n.308A>T c.217A>T c.876A>T (p.Thr292=) | |
3 | g.14139279C>A | CA432552660 | TMEM43 | c.*1012C>A (n.*1012C>A) c.982C>A (p.Arg328=) n.309C>A c.218C>A c.877C>A (p.Arg293=) | ClinVar dbSNP gnomAD v4 |
3 | g.14139279C= | CA1346972779 | TMEM43 | c.*1012C= (n.*1012C=) c.982C= (p.Arg328=) n.309C= c.218C= c.877C= (p.Arg293=) | |
3 | g.14139279C>G | CA351536291 | TMEM43 | c.*1012C>G (n.*1012C>G) c.982C>G (p.Arg328Gly) n.309C>G c.218C>G c.877C>G (p.Arg293Gly) | |
3 | g.14139279C>T | CA056368 | TMEM43 | c.*1012C>T (n.*1012C>T) c.982C>T (p.Arg328Trp) n.309C>T c.218C>T c.877C>T (p.Arg293Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.14139280G>A | CA056378 | TMEM43 | c.*1013G>A (n.*1013G>A) c.983G>A (p.Arg328Gln) n.310G>A c.219G>A c.878G>A (p.Arg293Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.14139280G>C | CA351536292 | TMEM43 | c.*1013G>C (n.*1013G>C) c.983G>C (p.Arg328Pro) n.310G>C c.219G>C c.878G>C (p.Arg293Pro) | |
3 | g.14139280G= | CA1346972780 | TMEM43 | c.*1013G= (n.*1013G=) c.983G= (p.Arg328=) n.310G= c.219G= c.878G= (p.Arg293=) | |
3 | g.14139280G>T | CA351536293 | TMEM43 | c.*1013G>T (n.*1013G>T) c.983G>T (p.Arg328Leu) n.310G>T c.219G>T c.878G>T (p.Arg293Leu) | |
3 | g.14139281G>A | CA432552661 | TMEM43 | c.*1014G>A (n.*1014G>A) c.984G>A (p.Arg328=) n.311G>A c.220G>A c.879G>A (p.Arg293=) | ClinVar dbSNP |
3 | g.14139281G>C | CA432552662 | TMEM43 | c.*1014G>C (n.*1014G>C) c.984G>C (p.Arg328=) n.311G>C c.220G>C c.879G>C (p.Arg293=) | |
3 | g.14139281G>T | CA432552663 | TMEM43 | c.*1014G>T (n.*1014G>T) c.984G>T (p.Arg328=) n.311G>T c.220G>T c.879G>T (p.Arg293=) | |
3 | g.14139282A= | CA1346972781 | TMEM43 | c.*1015A= (n.*1015A=) c.985A= (p.Ile329=) n.312A= c.221A= c.880A= (p.Ile294=) | |
3 | g.14139282A>C | CA16611187 | TMEM43 | c.*1015A>C (n.*1015A>C) c.985A>C (p.Ile329Leu) n.312A>C c.221A>C c.880A>C (p.Ile294Leu) | ClinVar dbSNP |
3 | g.14139282A>G | CA351536294 | TMEM43 | c.*1015A>G (n.*1015A>G) c.985A>G (p.Ile329Val) n.312A>G c.221A>G c.880A>G (p.Ile294Val) | |
3 | g.14139282A>T | CA351536295 | TMEM43 | c.*1015A>T (n.*1015A>T) c.985A>T (p.Ile329Phe) n.312A>T c.221A>T c.880A>T (p.Ile294Phe) | |
3 | g.14139283T>A | CA351536297 | TMEM43 | c.*1016T>A (n.*1016T>A) c.986T>A (p.Ile329Asn) n.313T>A c.222T>A c.881T>A (p.Ile294Asn) | gnomAD v4 |
3 | g.14139283T>C | CA351536298 | TMEM43 | c.*1016T>C (n.*1016T>C) c.986T>C (p.Ile329Thr) n.313T>C c.222T>C c.881T>C (p.Ile294Thr) | |
3 | g.14139283T>G | CA351536296 | TMEM43 | c.*1016T>G (n.*1016T>G) c.986T>G (p.Ile329Ser) n.313T>G c.222T>G c.881T>G (p.Ile294Ser) | |
3 | g.14139283dup | CA2839857153 | TMEM43 | c.*1016dup (n.*1016dup) c.986dup (p.Leu330ProfsTer?) n.313dup c.222dup c.881dup (p.Leu295ProfsTer?) | |
3 | g.14139284C>A | CA432552665 | TMEM43 | c.*1017C>A (n.*1017C>A) c.987C>A (p.Ile329=) n.314C>A c.223C>A c.882C>A (p.Ile294=) | gnomAD v4 |
3 | g.14139284C>G | CA351536299 | TMEM43 | c.*1017C>G (n.*1017C>G) c.987C>G (p.Ile329Met) n.314C>G c.223C>G c.882C>G (p.Ile294Met) | |
3 | g.14139284C>T | CA432552666 | TMEM43 | c.*1017C>T (n.*1017C>T) c.987C>T (p.Ile329=) n.314C>T c.223C>T c.882C>T (p.Ile294=) | |
3 | g.14139285C>A | CA351536300 | TMEM43 | c.*1018C>A (n.*1018C>A) c.988C>A (p.Leu330Ile) n.315C>A c.224C>A c.883C>A (p.Leu295Ile) | |
3 | g.14139285C>G | CA351536301 | TMEM43 | c.*1018C>G (n.*1018C>G) c.988C>G (p.Leu330Val) n.315C>G c.224C>G c.883C>G (p.Leu295Val) | gnomAD v4 |
3 | g.14139285C>T | CA351536302 | TMEM43 | c.*1018C>T (n.*1018C>T) c.988C>T (p.Leu330Phe) n.315C>T c.224C>T c.883C>T (p.Leu295Phe) | gnomAD v4 |
3 | g.14139286T>A | CA351536303 | TMEM43 | c.*1019T>A (n.*1019T>A) c.989T>A (p.Leu330His) n.316T>A c.225T>A c.884T>A (p.Leu295His) | gnomAD v4 |
3 | g.14139286T>C | CA351536304 | TMEM43 | c.*1019T>C (n.*1019T>C) c.989T>C (p.Leu330Pro) n.316T>C c.225T>C c.884T>C (p.Leu295Pro) | |
3 | g.14139286T>G | CA351536305 | TMEM43 | c.*1019T>G (n.*1019T>G) c.989T>G (p.Leu330Arg) n.316T>G c.225T>G c.884T>G (p.Leu295Arg) | |
3 | g.14139287C>A | CA432552670 | TMEM43 | c.*1020C>A (n.*1020C>A) c.990C>A (p.Leu330=) n.317C>A c.226C>A c.885C>A (p.Leu295=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.14139287C= | CA1346972782 | TMEM43 | c.*1020C= (n.*1020C=) c.990C= (p.Leu330=) n.317C= c.226C= c.885C= (p.Leu295=) | |
3 | g.14139287C>G | CA056399 | TMEM43 | c.*1020C>G (n.*1020C>G) c.990C>G (p.Leu330=) n.317C>G c.226C>G c.885C>G (p.Leu295=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.14139287C>T | CA056404 | TMEM43 | c.*1020C>T (n.*1020C>T) c.990C>T (p.Leu330=) n.317C>T c.226C>T c.885C>T (p.Leu295=) | ClinVar dbSNP ExAC gnomAD v4 COSMIC |
3 | g.14139288T>A | CA351536306 | TMEM43 | c.*1021T>A (n.*1021T>A) c.991T>A (p.Tyr331Asn) n.318T>A c.227T>A c.886T>A (p.Tyr296Asn) | |
3 | g.14139288T>C | CA351536307 | TMEM43 | c.*1021T>C (n.*1021T>C) c.991T>C (p.Tyr331His) n.318T>C c.227T>C c.886T>C (p.Tyr296His) | |
3 | g.14139288T>G | CA351536308 | TMEM43 | c.*1021T>G (n.*1021T>G) c.991T>G (p.Tyr331Asp) n.318T>G c.227T>G c.886T>G (p.Tyr296Asp) | |
3 | g.14139289A= | CA1346972783 | TMEM43 | c.*1022A= (n.*1022A=) c.992A= (p.Tyr331=) n.319A= c.228A= c.887A= (p.Tyr296=) | |
3 | g.14139289A>C | CA351536309 | TMEM43 | c.*1022A>C (n.*1022A>C) c.992A>C (p.Tyr331Ser) n.319A>C c.228A>C c.887A>C (p.Tyr296Ser) | |
3 | g.14139289A>G | CA351536310 | TMEM43 | c.*1022A>G (n.*1022A>G) c.992A>G (p.Tyr331Cys) n.319A>G c.228A>G c.887A>G (p.Tyr296Cys) | ClinVar dbSNP |
3 | g.14139289A>T | CA351536311 | TMEM43 | c.*1022A>T (n.*1022A>T) c.992A>T (p.Tyr331Phe) n.319A>T c.228A>T c.887A>T (p.Tyr296Phe) | dbSNP gnomAD v4 |
3 | g.14139290C>A | CA351536312 | TMEM43 | c.*1023C>A (n.*1023C>A) c.993C>A (p.Tyr331Ter) n.320C>A c.229C>A c.888C>A (p.Tyr296Ter) | |
3 | g.14139290C= | CA1346972784 | TMEM43 | c.*1023C= (n.*1023C=) c.993C= (p.Tyr331=) n.320C= c.229C= c.888C= (p.Tyr296=) | |
3 | g.14139290C>G | CA351536313 | TMEM43 | c.*1023C>G (n.*1023C>G) c.993C>G (p.Tyr331Ter) n.320C>G c.229C>G c.888C>G (p.Tyr296Ter) | |
3 | g.14139290C>T | CA056410 | TMEM43 | c.*1023C>T (n.*1023C>T) c.993C>T (p.Tyr331=) n.320C>T c.229C>T c.888C>T (p.Tyr296=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.14139291A>C | CA351536315 | TMEM43 | c.*1024A>C (n.*1024A>C) c.994A>C (p.Thr332Pro) n.321A>C c.230A>C c.889A>C (p.Thr297Pro) | |
3 | g.14139291A>G | CA351536314 | TMEM43 | c.*1024A>G (n.*1024A>G) c.994A>G (p.Thr332Ala) n.321A>G c.230A>G c.889A>G (p.Thr297Ala) | ClinVar dbSNP gnomAD v4 |
3 | g.14139291A>T | CA351536316 | TMEM43 | c.*1024A>T (n.*1024A>T) c.994A>T (p.Thr332Ser) n.321A>T c.230A>T c.889A>T (p.Thr297Ser) | |
3 | g.14139292C>A | CA351536317 | TMEM43 | c.*1025C>A (n.*1025C>A) c.995C>A (p.Thr332Asn) n.322C>A c.231C>A c.890C>A (p.Thr297Asn) | ClinVar dbSNP gnomAD v4 |
3 | g.14139292C= | CA1346972785 | TMEM43 | c.*1025C= (n.*1025C=) c.995C= (p.Thr332=) n.322C= c.231C= c.890C= (p.Thr297=) | |
3 | g.14139292C>G | CA351536319 | TMEM43 | c.*1025C>G (n.*1025C>G) c.995C>G (p.Thr332Ser) n.322C>G c.231C>G c.890C>G (p.Thr297Ser) | ClinVar dbSNP gnomAD v4 |
3 | g.14139292C>T | CA351536318 | TMEM43 | c.*1025C>T (n.*1025C>T) c.995C>T (p.Thr332Ile) n.322C>T c.231C>T c.890C>T (p.Thr297Ile) | ClinVar dbSNP |
3 | g.14139293C>A | CA432552677 | TMEM43 | c.*1026C>A (n.*1026C>A) c.996C>A (p.Thr332=) n.323C>A c.232C>A c.891C>A (p.Thr297=) | |
3 | g.14139293C= | CA1346972786 | TMEM43 | c.*1026C= (n.*1026C=) c.996C= (p.Thr332=) n.323C= c.232C= c.891C= (p.Thr297=) | |
3 | g.14139293C>G | CA432552678 | TMEM43 | c.*1026C>G (n.*1026C>G) c.996C>G (p.Thr332=) n.323C>G c.232C>G c.891C>G (p.Thr297=) | |
3 | g.14139293C>T | CA432552679 | TMEM43 | c.*1026C>T (n.*1026C>T) c.996C>T (p.Thr332=) n.323C>T c.232C>T c.891C>T (p.Thr297=) | dbSNP |
3 | g.14139294T>A | CA351536320 | TMEM43 | c.*1027T>A (n.*1027T>A) c.997T>A (p.Leu333Met) n.324T>A c.233T>A c.892T>A (p.Leu298Met) | |
3 | g.14139294T>C | CA432552680 | TMEM43 | c.*1027T>C (n.*1027T>C) c.997T>C (p.Leu333=) n.324T>C c.233T>C c.892T>C (p.Leu298=) | |
3 | g.14139294T>G | CA351536321 | TMEM43 | c.*1027T>G (n.*1027T>G) c.997T>G (p.Leu333Val) n.324T>G c.233T>G c.892T>G (p.Leu298Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.14139294T= | CA1346972787 | TMEM43 | c.*1027T= (n.*1027T=) c.997T= (p.Leu333=) n.324T= c.233T= c.892T= (p.Leu298=) | |
3 | g.14139295T>A | CA351536322 | TMEM43 | c.*1028T>A (n.*1028T>A) c.998T>A (p.Leu333Ter) n.325T>A c.234T>A c.893T>A (p.Leu298Ter) | |
3 | g.14139295T>C | CA351536323 | TMEM43 | c.*1028T>C (n.*1028T>C) c.998T>C (p.Leu333Ser) n.325T>C c.234T>C c.893T>C (p.Leu298Ser) | |
3 | g.14139295T>G | CA351536324 | TMEM43 | c.*1028T>G (n.*1028T>G) c.998T>G (p.Leu333Trp) n.325T>G c.234T>G c.893T>G (p.Leu298Trp) | |
3 | g.14139296G>A | CA056425 | TMEM43 | c.*1029G>A (n.*1029G>A) c.999G>A (p.Leu333=) n.326G>A c.235G>A c.894G>A (p.Leu298=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.14139296G>C | CA351536325 | TMEM43 | c.*1029G>C (n.*1029G>C) c.999G>C (p.Leu333Phe) n.326G>C c.235G>C c.894G>C (p.Leu298Phe) | |
3 | g.14139296G= | CA1346972788 | TMEM43 | c.*1029G= (n.*1029G=) c.999G= (p.Leu333=) n.326G= c.235G= c.894G= (p.Leu298=) | |
3 | g.14139296G>T | CA351536326 | TMEM43 | c.*1029G>T (n.*1029G>T) c.999G>T (p.Leu333Phe) n.326G>T c.235G>T c.894G>T (p.Leu298Phe) | |
3 | g.14139297G>A | CA351536327 | TMEM43 | c.*1030G>A (n.*1030G>A) c.1000G>A (p.Val334Met) n.327G>A c.236G>A c.895G>A (p.Val299Met) | |
3 | g.14139297G>C | CA351536328 | TMEM43 | c.*1030G>C (n.*1030G>C) c.1000G>C (p.Val334Leu) n.327G>C c.236G>C c.895G>C (p.Val299Leu) | |
3 | g.14139297G>T | CA351536329 | TMEM43 | c.*1030G>T (n.*1030G>T) c.1000G>T (p.Val334Leu) n.327G>T c.236G>T c.895G>T (p.Val299Leu) | |
3 | g.14139298G>A | CA351536330 | TMEM43 | c.*1030+1G>A (n.*1030+1G>A) c.1000+1G>A (n.1000+1G>A) n.327+1G>A c.236+1G>A c.895+1G>A (n.895+1G>A) | gnomAD v4 |
3 | g.14139298G>C | CA351536331 | TMEM43 | c.*1030+1G>C (n.*1030+1G>C) c.1000+1G>C (n.1000+1G>C) n.327+1G>C c.236+1G>C c.895+1G>C (n.895+1G>C) | |
3 | g.14139298G>T | CA351536332 | TMEM43 | c.*1030+1G>T (n.*1030+1G>T) c.1000+1G>T (n.1000+1G>T) n.327+1G>T c.236+1G>T c.895+1G>T (n.895+1G>T) | |
3 | g.14139299T>A | CA351536334 | TMEM43 | c.*1030+2T>A (n.*1030+2T>A) c.1000+2T>A (n.1000+2T>A) n.327+2T>A c.236+2T>A c.895+2T>A (n.895+2T>A) | |
3 | g.14139299T>C | CA050808 | TMEM43 | c.*1030+2T>C (n.*1030+2T>C) c.1000+2T>C (n.1000+2T>C) n.327+2T>C c.236+2T>C c.895+2T>C (n.895+2T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.14139299T>G | CA351536333 | TMEM43 | c.*1030+2T>G (n.*1030+2T>G) c.1000+2T>G (n.1000+2T>G) n.327+2T>G c.236+2T>G c.895+2T>G (n.895+2T>G) | |
3 | g.14139299T= | CA1346972789 | TMEM43 | c.*1030+2T= (n.*1030+2T=) c.1000+2T= (n.1000+2T=) n.327+2T= c.236+2T= c.895+2T= (n.895+2T=) | |
3 | g.14139300A= | CA1346972790 | TMEM43 | c.*1030+3A= (n.*1030+3A=) c.1000+3A= (n.1000+3A=) n.327+3A= c.236+3A= c.895+3A= (n.895+3A=) | |
3 | g.14139300A>G | CA916081424 | TMEM43 | c.*1030+3A>G (n.*1030+3A>G) c.1000+3A>G (n.1000+3A>G) n.327+3A>G c.236+3A>G c.895+3A>G (n.895+3A>G) | ClinVar dbSNP |
3 | g.14139300A>T | CA2664570861 | TMEM43 | c.*1030+3A>T (n.*1030+3A>T) c.1000+3A>T (n.1000+3A>T) n.327+3A>T c.236+3A>T c.895+3A>T (n.895+3A>T) | gnomAD v4 |
3 | g.14139302G>A | CA2755301195 | TMEM43 | c.*1030+5G>A (n.*1030+5G>A) c.1000+5G>A (n.1000+5G>A) n.327+5G>A c.236+5G>A c.895+5G>A (n.895+5G>A) | |
3 | g.14139302G= | CA1346972791 | TMEM43 | c.*1030+5G= (n.*1030+5G=) c.1000+5G= (n.1000+5G=) n.327+5G= c.236+5G= c.895+5G= (n.895+5G=) | |
3 | g.14139302G>T | CA024562 | TMEM43 | c.*1030+5G>T (n.*1030+5G>T) c.1000+5G>T (n.1000+5G>T) n.327+5G>T c.236+5G>T c.895+5G>T (n.895+5G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.14139303T>C | CA050878 | TMEM43 | c.*1030+6T>C (n.*1030+6T>C) c.1000+6T>C (n.1000+6T>C) n.327+6T>C c.236+6T>C c.895+6T>C (n.895+6T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.14139303T= | CA1346972792 | TMEM43 | c.*1030+6T= (n.*1030+6T=) c.1000+6T= (n.1000+6T=) n.327+6T= c.236+6T= c.895+6T= (n.895+6T=) | |
3 | g.14139304G>T | CA2839857154 | TMEM43 | c.*1030+7G>T (n.*1030+7G>T) c.1000+7G>T (n.1000+7G>T) n.327+7G>T c.236+7G>T c.895+7G>T (n.895+7G>T) | |
3 | g.14139306T>A | CA2664570862 | TMEM43 | c.*1030+9T>A (n.*1030+9T>A) c.1000+9T>A (n.1000+9T>A) n.327+9T>A c.236+9T>A c.895+9T>A (n.895+9T>A) | gnomAD v4 |
3 | g.14139306T>C | CA541297755 | TMEM43 | c.*1030+9T>C (n.*1030+9T>C) c.1000+9T>C (n.1000+9T>C) n.327+9T>C c.236+9T>C c.895+9T>C (n.895+9T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.14139306T= | CA1346972793 | TMEM43 | c.*1030+9T= (n.*1030+9T=) c.1000+9T= (n.1000+9T=) n.327+9T= c.236+9T= c.895+9T= (n.895+9T=) |