Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.29702752_29702753delinsTG | CA645611975 | C19orf12 | c.385_386delinsCA (p.Val129His) n.776_777delinsCA c.193_194delinsCA (p.Val65His) c.418_419delinsCA (p.Val140His) c.*6_*7delinsCA (n.*6_*7delinsCA) c.547_548delinsCA (p.Val183His) | COSMIC COSMIC |
19 | g.29702753C>A | CA405142346 | C19orf12 | c.385G>T (p.Val129Phe) n.776G>T c.193G>T (p.Val65Phe) c.418G>T (p.Val140Phe) c.*6G>T (n.*6G>T) c.547G>T (p.Val183Phe) | |
19 | g.29702753C= | CA2330913519 | C19orf12 | c.385G= (p.Val129=) n.776G= c.193G= (p.Val65=) c.418G= (p.Val140=) c.*6G= (n.*6G=) c.547G= (p.Val183=) | |
19 | g.29702753C>G | CA405142348 | C19orf12 | c.385G>C (p.Val129Leu) n.776G>C c.193G>C (p.Val65Leu) c.418G>C (p.Val140Leu) c.*6G>C (n.*6G>C) c.547G>C (p.Val183Leu) | |
19 | g.29702753C>T | CA405142349 | C19orf12 | c.385G>A (p.Val129Ile) n.776G>A c.193G>A (p.Val65Ile) c.418G>A (p.Val140Ile) c.*6G>A (n.*6G>A) c.547G>A (p.Val183Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.29702754_29702797del | CA2584189483 | C19orf12 | c.342_385del (p.Glu115HisfsTer11) n.733_776del c.150_193del (p.Glu51HisfsTer11) c.375_418del (p.Glu126HisfsTer11) c.291-4_*6del c.504_547del (p.Glu169HisfsTer11) | gnomAD v4 |
19 | g.29702754G>A | CA9351870 | C19orf12 | c.384C>T (p.Tyr128=) n.775C>T c.192C>T (p.Tyr64=) c.417C>T (p.Tyr139=) c.*5C>T (n.*5C>T) c.546C>T (p.Tyr182=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
19 | g.29702754G>C | CA405142351 | C19orf12 | c.384C>G (p.Tyr128Ter) n.775C>G c.192C>G (p.Tyr64Ter) c.417C>G (p.Tyr139Ter) c.*5C>G (n.*5C>G) c.546C>G (p.Tyr182Ter) | |
19 | g.29702754G= | CA2330913520 | C19orf12 | c.384C= (p.Tyr128=) n.775C= c.192C= (p.Tyr64=) c.417C= (p.Tyr139=) c.*5C= (n.*5C=) c.546C= (p.Tyr182=) | |
19 | g.29702754G>T | CA405142352 | C19orf12 | c.384C>A (p.Tyr128Ter) n.775C>A c.192C>A (p.Tyr64Ter) c.417C>A (p.Tyr139Ter) c.*5C>A (n.*5C>A) c.546C>A (p.Tyr182Ter) | |
19 | g.29702755T>A | CA405142359 | C19orf12 | c.383A>T (p.Tyr128Phe) n.774A>T c.191A>T (p.Tyr64Phe) c.416A>T (p.Tyr139Phe) c.*4A>T (n.*4A>T) c.545A>T (p.Tyr182Phe) | |
19 | g.29702755T>C | CA405142356 | C19orf12 | c.383A>G (p.Tyr128Cys) n.774A>G c.191A>G (p.Tyr64Cys) c.416A>G (p.Tyr139Cys) c.*4A>G (n.*4A>G) c.545A>G (p.Tyr182Cys) | |
19 | g.29702755T>G | CA405142358 | C19orf12 | c.383A>C (p.Tyr128Ser) n.774A>C c.191A>C (p.Tyr64Ser) c.416A>C (p.Tyr139Ser) c.*4A>C (n.*4A>C) c.545A>C (p.Tyr182Ser) | |
19 | g.29702756_29702759del | CA2838269286 | C19orf12 | c.380_383del (p.Asn127ThrfsTer26) n.771_774del c.188_191del (p.Asn63ThrfsTer26) c.413_416del (p.Asn138ThrfsTer26) c.*1_*4del (n.*1_*4del) c.542_545del (p.Asn181ThrfsTer26) | |
19 | g.29702756A>C | CA405142361 | C19orf12 | c.382T>G (p.Tyr128Asp) n.773T>G c.190T>G (p.Tyr64Asp) c.415T>G (p.Tyr139Asp) c.*3T>G (n.*3T>G) c.544T>G (p.Tyr182Asp) | |
19 | g.29702756A>G | CA405142366 | C19orf12 | c.382T>C (p.Tyr128His) n.773T>C c.190T>C (p.Tyr64His) c.415T>C (p.Tyr139His) c.*3T>C (n.*3T>C) c.544T>C (p.Tyr182His) | |
19 | g.29702756A>T | CA405142372 | C19orf12 | c.382T>A (p.Tyr128Asn) n.773T>A c.190T>A (p.Tyr64Asn) c.415T>A (p.Tyr139Asn) c.*3T>A (n.*3T>A) c.544T>A (p.Tyr182Asn) | |
19 | g.29702757G>A | CA506986577 | C19orf12 | c.381C>T (p.Asn127=) n.772C>T c.189C>T (p.Asn63=) c.414C>T (p.Asn138=) c.*2C>T (n.*2C>T) c.543C>T (p.Asn181=) | dbSNP |
19 | g.29702757G>C | CA405142374 | C19orf12 | c.381C>G (p.Asn127Lys) n.772C>G c.189C>G (p.Asn63Lys) c.414C>G (p.Asn138Lys) c.*2C>G (n.*2C>G) c.543C>G (p.Asn181Lys) | |
19 | g.29702757G= | CA2330913521 | C19orf12 | c.381C= (p.Asn127=) n.772C= c.189C= (p.Asn63=) c.414C= (p.Asn138=) c.*2C= (n.*2C=) c.543C= (p.Asn181=) | |
19 | g.29702757G>T | CA405142376 | C19orf12 | c.381C>A (p.Asn127Lys) n.772C>A c.189C>A (p.Asn63Lys) c.414C>A (p.Asn138Lys) c.*2C>A (n.*2C>A) c.543C>A (p.Asn181Lys) | |
19 | g.29702758T>A | CA405142380 | C19orf12 | c.380A>T (p.Asn127Ile) n.771A>T c.188A>T (p.Asn63Ile) c.413A>T (p.Asn138Ile) c.*1A>T (n.*1A>T) c.542A>T (p.Asn181Ile) | |
19 | g.29702758T>C | CA405142381 | C19orf12 | c.380A>G (p.Asn127Ser) n.771A>G c.188A>G (p.Asn63Ser) c.413A>G (p.Asn138Ser) c.*1A>G (n.*1A>G) c.542A>G (p.Asn181Ser) | gnomAD v4 COSMIC COSMIC |
19 | g.29702758T>G | CA405142382 | C19orf12 | c.380A>C (p.Asn127Thr) n.771A>C c.188A>C (p.Asn63Thr) c.413A>C (p.Asn138Thr) c.*1A>C (n.*1A>C) c.542A>C (p.Asn181Thr) | |
19 | g.29702759T>A | CA405142383 | C19orf12 | c.379A>T (p.Asn127Tyr) n.770A>T c.187A>T (p.Asn63Tyr) c.412A>T (p.Asn138Tyr) c.324A>T (p.Ter108Cys) c.541A>T (p.Asn181Tyr) | |
19 | g.29702759T>C | CA405142384 | C19orf12 | c.379A>G (p.Asn127Asp) n.770A>G c.187A>G (p.Asn63Asp) c.412A>G (p.Asn138Asp) c.324A>G (p.Ter108Trp) c.541A>G (p.Asn181Asp) | |
19 | g.29702759T>G | CA405142385 | C19orf12 | c.379A>C (p.Asn127His) n.770A>C c.187A>C (p.Asn63His) c.412A>C (p.Asn138His) c.324A>C (p.Ter108Cys) c.541A>C (p.Asn181His) | |
19 | g.29702760C>A | CA405142392 | C19orf12 | c.378G>T (p.Val126=) n.769G>T c.186G>T (p.Val62=) c.411G>T (p.Val137=) c.323G>T (p.Ter108Leu) c.540G>T (p.Val180=) | |
19 | g.29702760C>G | CA405142397 | C19orf12 | c.378G>C (p.Val126=) n.769G>C c.186G>C (p.Val62=) c.411G>C (p.Val137=) c.323G>C (p.Ter108Ser) c.540G>C (p.Val180=) | |
19 | g.29702760C>T | CA506986593 | C19orf12 | c.378G>A (p.Val126=) n.769G>A c.186G>A (p.Val62=) c.411G>A (p.Val137=) c.323G>A (p.Ter108=) c.540G>A (p.Val180=) | |
19 | g.29702761A= | CA2330913522 | C19orf12 | c.377T= (p.Val126=) n.768T= c.185T= (p.Val62=) c.410T= (p.Val137=) c.322T= (p.Ter108=) c.539T= (p.Val180=) | |
19 | g.29702761A>C | CA405142401 | C19orf12 | c.377T>G (p.Val126Gly) n.768T>G c.185T>G (p.Val62Gly) c.410T>G (p.Val137Gly) c.322T>G (p.Ter108Gly) c.539T>G (p.Val180Gly) | dbSNP |
19 | g.29702761A>G | CA405142404 | C19orf12 | c.377T>C (p.Val126Ala) n.768T>C c.185T>C (p.Val62Ala) c.410T>C (p.Val137Ala) c.322T>C (p.Ter108Arg) c.539T>C (p.Val180Ala) | |
19 | g.29702761A>T | CA405142399 | C19orf12 | c.377T>A (p.Val126Glu) n.768T>A c.185T>A (p.Val62Glu) c.410T>A (p.Val137Glu) c.322T>A (p.Ter108Arg) c.539T>A (p.Val180Glu) | |
19 | g.29702762C>A | CA405142408 | C19orf12 | c.376G>T (p.Val126Leu) n.767G>T c.184G>T (p.Val62Leu) c.409G>T (p.Val137Leu) c.321G>T (p.Trp107Cys) c.538G>T (p.Val180Leu) | gnomAD v4 |
19 | g.29702762C= | CA2330913523 | C19orf12 | c.376G= (p.Val126=) n.767G= c.184G= (p.Val62=) c.409G= (p.Val137=) c.321G= (p.Trp107=) c.538G= (p.Val180=) | |
19 | g.29702762C>G | CA405142410 | C19orf12 | c.376G>C (p.Val126Leu) n.767G>C c.184G>C (p.Val62Leu) c.409G>C (p.Val137Leu) c.321G>C (p.Trp107Cys) c.538G>C (p.Val180Leu) | |
19 | g.29702762C>T | CA9351872 | C19orf12 | c.376G>A (p.Val126Met) n.767G>A c.184G>A (p.Val62Met) c.409G>A (p.Val137Met) c.321G>A (p.Trp107Ter) c.538G>A (p.Val180Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.29702763dup | CA9351871 | C19orf12 | c.376dup (p.Val126GlyfsTer15) n.767dup c.184dup (p.Val62GlyfsTer15) c.409dup (p.Val137GlyfsTer15) c.321dup (p.Ter108ValextTer17) c.538dup (p.Val180GlyfsTer15) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.29702763C>A | CA405142412 | C19orf12 | c.375G>T (p.Leu125=) n.766G>T c.183G>T (p.Leu61=) c.408G>T (p.Leu136=) c.320G>T (p.Trp107Leu) c.537G>T (p.Leu179=) | gnomAD v4 |
19 | g.29702763C>G | CA405142413 | C19orf12 | c.375G>C (p.Leu125=) n.766G>C c.183G>C (p.Leu61=) c.408G>C (p.Leu136=) c.320G>C (p.Trp107Ser) c.537G>C (p.Leu179=) | |
19 | g.29702763C>T | CA405142414 | C19orf12 | c.375G>A (p.Leu125=) n.766G>A c.183G>A (p.Leu61=) c.408G>A (p.Leu136=) c.320G>A (p.Trp107Ter) c.537G>A (p.Leu179=) | |
19 | g.29702764A>C | CA405142415 | C19orf12 | c.374T>G (p.Leu125Arg) n.765T>G c.182T>G (p.Leu61Arg) c.407T>G (p.Leu136Arg) c.319T>G (p.Trp107Gly) c.536T>G (p.Leu179Arg) | |
19 | g.29702764A>G | CA405142417 | C19orf12 | c.374T>C (p.Leu125Pro) n.765T>C c.182T>C (p.Leu61Pro) c.407T>C (p.Leu136Pro) c.319T>C (p.Trp107Arg) c.536T>C (p.Leu179Pro) | |
19 | g.29702764A>T | CA405142416 | C19orf12 | c.374T>A (p.Leu125Gln) n.765T>A c.182T>A (p.Leu61Gln) c.407T>A (p.Leu136Gln) c.319T>A (p.Trp107Arg) c.536T>A (p.Leu179Gln) | |
19 | g.29702765G>A | CA506986624 | C19orf12 | c.373C>T (p.Leu125=) n.764C>T c.181C>T (p.Leu61=) c.406C>T (p.Leu136=) c.318C>T (p.Cys106=) c.535C>T (p.Leu179=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.29702765G>C | CA405142420 | C19orf12 | c.373C>G (p.Leu125Val) n.764C>G c.181C>G (p.Leu61Val) c.406C>G (p.Leu136Val) c.318C>G (p.Cys106Trp) c.535C>G (p.Leu179Val) | |
19 | g.29702765G= | CA2330913524 | C19orf12 | c.373C= (p.Leu125=) n.764C= c.181C= (p.Leu61=) c.406C= (p.Leu136=) c.318C= (p.Cys106=) c.535C= (p.Leu179=) | |
19 | g.29702765G>T | CA405142422 | C19orf12 | c.373C>A (p.Leu125Met) n.764C>A c.181C>A (p.Leu61Met) c.406C>A (p.Leu136Met) c.318C>A (p.Cys106Ter) c.535C>A (p.Leu179Met) | |
19 | g.29702766C>A | CA405142426 | C19orf12 | c.372G>T (p.Met124Ile) n.763G>T c.180G>T (p.Met60Ile) c.405G>T (p.Met135Ile) c.317G>T (p.Cys106Phe) c.534G>T (p.Met178Ile) | |
19 | g.29702766C= | CA2330913525 | C19orf12 | c.372G= (p.Met124=) n.763G= c.180G= (p.Met60=) c.405G= (p.Met135=) c.317G= (p.Cys106=) c.534G= (p.Met178=) | |
19 | g.29702766C>G | CA405142428 | C19orf12 | c.372G>C (p.Met124Ile) n.763G>C c.180G>C (p.Met60Ile) c.405G>C (p.Met135Ile) c.317G>C (p.Cys106Ser) c.534G>C (p.Met178Ile) | |
19 | g.29702766C>T | CA405142430 | C19orf12 | c.372G>A (p.Met124Ile) n.763G>A c.180G>A (p.Met60Ile) c.405G>A (p.Met135Ile) c.317G>A (p.Cys106Tyr) c.534G>A (p.Met178Ile) | gnomAD v4 |
19 | g.29702767A= | CA2330913526 | C19orf12 | c.371T= (p.Met124=) n.762T= c.179T= (p.Met60=) c.404T= (p.Met135=) c.316T= (p.Cys106=) c.533T= (p.Met178=) | |
19 | g.29702767A>C | CA405142431 | C19orf12 | c.371T>G (p.Met124Arg) n.762T>G c.179T>G (p.Met60Arg) c.404T>G (p.Met135Arg) c.316T>G (p.Cys106Gly) c.533T>G (p.Met178Arg) | |
19 | g.29702767A>G | CA405142434 | C19orf12 | c.371T>C (p.Met124Thr) n.762T>C c.179T>C (p.Met60Thr) c.404T>C (p.Met135Thr) c.316T>C (p.Cys106Arg) c.533T>C (p.Met178Thr) | ClinVar dbSNP |
19 | g.29702767A>T | CA405142432 | C19orf12 | c.371T>A (p.Met124Lys) n.762T>A c.179T>A (p.Met60Lys) c.404T>A (p.Met135Lys) c.316T>A (p.Cys106Ser) c.533T>A (p.Met178Lys) | |
19 | g.29702767dup | CA913190707 | C19orf12 | c.371dup (p.Met124IlefsTer17) n.762dup c.179dup (p.Met60IlefsTer17) c.404dup (p.Met135IlefsTer17) c.316dup (p.Cys106LeufsTer19) c.533dup (p.Met178IlefsTer17) | ClinVar dbSNP gnomAD v4 |
19 | g.29702768T>A | CA405142436 | C19orf12 | c.370A>T (p.Met124Leu) n.761A>T c.178A>T (p.Met60Leu) c.403A>T (p.Met135Leu) c.315A>T (p.Pro105=) c.532A>T (p.Met178Leu) | |
19 | g.29702768T>C | CA306785201 | C19orf12 | c.370A>G (p.Met124Val) n.761A>G c.178A>G (p.Met60Val) c.403A>G (p.Met135Val) c.315A>G (p.Pro105=) c.532A>G (p.Met178Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.29702768T>G | CA405142437 | C19orf12 | c.370A>C (p.Met124Leu) n.761A>C c.178A>C (p.Met60Leu) c.403A>C (p.Met135Leu) c.315A>C (p.Pro105=) c.532A>C (p.Met178Leu) | |
19 | g.29702768T= | CA2330913527 | C19orf12 | c.370A= (p.Met124=) n.761A= c.178A= (p.Met60=) c.403A= (p.Met135=) c.315A= (p.Pro105=) c.532A= (p.Met178=) | |
19 | g.29702769G>A | CA405142440 | C19orf12 | c.369C>T (p.Ala123=) n.760C>T c.177C>T (p.Ala59=) c.402C>T (p.Ala134=) c.314C>T (p.Pro105Leu) c.531C>T (p.Ala177=) | |
19 | g.29702769G>C | CA405142443 | C19orf12 | c.369C>G (p.Ala123=) n.760C>G c.177C>G (p.Ala59=) c.402C>G (p.Ala134=) c.314C>G (p.Pro105Arg) c.531C>G (p.Ala177=) | |
19 | g.29702769G>T | CA405142445 | C19orf12 | c.369C>A (p.Ala123=) n.760C>A c.177C>A (p.Ala59=) c.402C>A (p.Ala134=) c.314C>A (p.Pro105Gln) c.531C>A (p.Ala177=) | |
19 | g.29702770G>A | CA405142448 | C19orf12 | c.368C>T (p.Ala123Val) n.759C>T c.176C>T (p.Ala59Val) c.401C>T (p.Ala134Val) c.313C>T (p.Pro105Ser) c.530C>T (p.Ala177Val) | |
19 | g.29702770G>C | CA405142449 | C19orf12 | c.368C>G (p.Ala123Gly) n.759C>G c.176C>G (p.Ala59Gly) c.401C>G (p.Ala134Gly) c.313C>G (p.Pro105Ala) c.530C>G (p.Ala177Gly) | |
19 | g.29702770G>T | CA405142452 | C19orf12 | c.368C>A (p.Ala123Asp) n.759C>A c.176C>A (p.Ala59Asp) c.401C>A (p.Ala134Asp) c.313C>A (p.Pro105Thr) c.530C>A (p.Ala177Asp) | |
19 | g.29702771C>A | CA405142456 | C19orf12 | c.367G>T (p.Ala123Ser) n.758G>T c.175G>T (p.Ala59Ser) c.400G>T (p.Ala134Ser) c.312G>T (p.Trp104Cys) c.529G>T (p.Ala177Ser) | gnomAD v4 |
19 | g.29702771C= | CA2330913528 | C19orf12 | c.367G= (p.Ala123=) n.758G= c.175G= (p.Ala59=) c.400G= (p.Ala134=) c.312G= (p.Trp104=) c.529G= (p.Ala177=) | |
19 | g.29702771C>G | CA405142461 | C19orf12 | c.367G>C (p.Ala123Pro) n.758G>C c.175G>C (p.Ala59Pro) c.400G>C (p.Ala134Pro) c.312G>C (p.Trp104Cys) c.529G>C (p.Ala177Pro) | dbSNP gnomAD v4 |
19 | g.29702771C>T | CA405142463 | C19orf12 | c.367G>A (p.Ala123Thr) n.758G>A c.175G>A (p.Ala59Thr) c.400G>A (p.Ala134Thr) c.312G>A (p.Trp104Ter) c.529G>A (p.Ala177Thr) | |
19 | g.29702772C>A | CA405142469 | C19orf12 | c.366G>T (p.Leu122=) n.757G>T c.174G>T (p.Leu58=) c.399G>T (p.Leu133=) c.311G>T (p.Trp104Leu) c.528G>T (p.Leu176=) | |
19 | g.29702772C>G | CA405142466 | C19orf12 | c.366G>C (p.Leu122=) n.757G>C c.174G>C (p.Leu58=) c.399G>C (p.Leu133=) c.311G>C (p.Trp104Ser) c.528G>C (p.Leu176=) | |
19 | g.29702772C>T | CA405142467 | C19orf12 | c.366G>A (p.Leu122=) n.757G>A c.174G>A (p.Leu58=) c.399G>A (p.Leu133=) c.311G>A (p.Trp104Ter) c.528G>A (p.Leu176=) | |
19 | g.29702773A>C | CA405142471 | C19orf12 | c.365T>G (p.Leu122Arg) n.756T>G c.173T>G (p.Leu58Arg) c.398T>G (p.Leu133Arg) c.310T>G (p.Trp104Gly) c.527T>G (p.Leu176Arg) | |
19 | g.29702773A>G | CA405142473 | C19orf12 | c.365T>C (p.Leu122Pro) n.756T>C c.173T>C (p.Leu58Pro) c.398T>C (p.Leu133Pro) c.310T>C (p.Trp104Arg) c.527T>C (p.Leu176Pro) | |
19 | g.29702773A>T | CA405142476 | C19orf12 | c.365T>A (p.Leu122Gln) n.756T>A c.173T>A (p.Leu58Gln) c.398T>A (p.Leu133Gln) c.310T>A (p.Trp104Arg) c.527T>A (p.Leu176Gln) | |
19 | g.29702774G>A | CA506986674 | C19orf12 | c.364C>T (p.Leu122=) n.755C>T c.172C>T (p.Leu58=) c.397C>T (p.Leu133=) c.309C>T (p.Cys103=) c.526C>T (p.Leu176=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.29702774G>C | CA405142479 | C19orf12 | c.364C>G (p.Leu122Val) n.755C>G c.172C>G (p.Leu58Val) c.397C>G (p.Leu133Val) c.309C>G (p.Cys103Trp) c.526C>G (p.Leu176Val) | |
19 | g.29702774G= | CA2330913529 | C19orf12 | c.364C= (p.Leu122=) n.755C= c.172C= (p.Leu58=) c.397C= (p.Leu133=) c.309C= (p.Cys103=) c.526C= (p.Leu176=) | |
19 | g.29702774G>T | CA405142480 | C19orf12 | c.364C>A (p.Leu122Met) n.755C>A c.172C>A (p.Leu58Met) c.397C>A (p.Leu133Met) c.309C>A (p.Cys103Ter) c.526C>A (p.Leu176Met) | |
19 | g.29702775C>A | CA405142489 | C19orf12 | c.363G>T (p.Leu121=) n.754G>T c.171G>T (p.Leu57=) c.396G>T (p.Leu132=) c.308G>T (p.Cys103Phe) c.525G>T (p.Leu175=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.29702775C= | CA2330913530 | C19orf12 | c.363G= (p.Leu121=) n.754G= c.171G= (p.Leu57=) c.396G= (p.Leu132=) c.308G= (p.Cys103=) c.525G= (p.Leu175=) | |
19 | g.29702775C>G | CA405142486 | C19orf12 | c.363G>C (p.Leu121=) n.754G>C c.171G>C (p.Leu57=) c.396G>C (p.Leu132=) c.308G>C (p.Cys103Ser) c.525G>C (p.Leu175=) | |
19 | g.29702775C>T | CA405142484 | C19orf12 | c.363G>A (p.Leu121=) n.754G>A c.171G>A (p.Leu57=) c.396G>A (p.Leu132=) c.308G>A (p.Cys103Tyr) c.525G>A (p.Leu175=) | |
19 | g.29702776A= | CA2330913531 | C19orf12 | c.362T= (p.Leu121=) n.753T= c.170T= (p.Leu57=) c.395T= (p.Leu132=) c.307T= (p.Cys103=) c.524T= (p.Leu175=) | |
19 | g.29702776A>C | CA405142491 | C19orf12 | c.362T>G (p.Leu121Arg) n.753T>G c.170T>G (p.Leu57Arg) c.395T>G (p.Leu132Arg) c.307T>G (p.Cys103Gly) c.524T>G (p.Leu175Arg) | |
19 | g.29702776A>G | CA405142494 | C19orf12 | c.362T>C (p.Leu121Pro) n.753T>C c.170T>C (p.Leu57Pro) c.395T>C (p.Leu132Pro) c.307T>C (p.Cys103Arg) c.524T>C (p.Leu175Pro) | gnomAD v4 |
19 | g.29702776A>T | CA260038 | C19orf12 | c.362T>A (p.Leu121Gln) n.753T>A c.170T>A (p.Leu57Gln) c.395T>A (p.Leu132Gln) c.307T>A (p.Cys103Ser) c.524T>A (p.Leu175Gln) | ClinVar dbSNP |
19 | g.29702777G>A | CA506986694 | C19orf12 | c.361C>T (p.Leu121=) n.752C>T c.169C>T (p.Leu57=) c.394C>T (p.Leu132=) c.306C>T (p.Ser102=) c.523C>T (p.Leu175=) | |
19 | g.29702777G>C | CA405142500 | C19orf12 | c.361C>G (p.Leu121Val) n.752C>G c.169C>G (p.Leu57Val) c.394C>G (p.Leu132Val) c.306C>G (p.Ser102Arg) c.523C>G (p.Leu175Val) | |
19 | g.29702777G>T | CA405142501 | C19orf12 | c.361C>A (p.Leu121Met) n.752C>A c.169C>A (p.Leu57Met) c.394C>A (p.Leu132Met) c.306C>A (p.Ser102Arg) c.523C>A (p.Leu175Met) | |
19 | g.29702785_29702787dup | CA9351873 | C19orf12 | c.359_361dup (p.Gln120_Leu121insGln) n.750_752dup c.167_169dup (p.Gln56_Leu57insGln) c.392_394dup (p.Gln131_Leu132insGln) c.304_306dup (p.Ser102_Cys103insSer) c.521_523dup (p.Gln174_Leu175insGln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.29702778C>A | CA405142508 | C19orf12 | c.360G>T (p.Gln120His) n.751G>T c.168G>T (p.Gln56His) c.393G>T (p.Gln131His) c.305G>T (p.Ser102Ile) c.522G>T (p.Gln174His) | |
19 | g.29702778C>G | CA405142505 | C19orf12 | c.360G>C (p.Gln120His) n.751G>C c.168G>C (p.Gln56His) c.393G>C (p.Gln131His) c.305G>C (p.Ser102Thr) c.522G>C (p.Gln174His) | |
19 | g.29702778C>T | CA405142506 | C19orf12 | c.360G>A (p.Gln120=) n.751G>A c.168G>A (p.Gln56=) c.393G>A (p.Gln131=) c.305G>A (p.Ser102Asn) c.522G>A (p.Gln174=) | |
19 | g.29702779T>A | CA405142511 | C19orf12 | c.359A>T (p.Gln120Leu) n.750A>T c.167A>T (p.Gln56Leu) c.392A>T (p.Gln131Leu) c.304A>T (p.Ser102Cys) c.521A>T (p.Gln174Leu) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.29702779T>C | CA405142514 | C19orf12 | c.359A>G (p.Gln120Arg) n.750A>G c.167A>G (p.Gln56Arg) c.392A>G (p.Gln131Arg) c.304A>G (p.Ser102Gly) c.521A>G (p.Gln174Arg) | COSMIC COSMIC |
19 | g.29702779T>G | CA405142516 | C19orf12 | c.359A>C (p.Gln120Pro) n.750A>C c.167A>C (p.Gln56Pro) c.392A>C (p.Gln131Pro) c.304A>C (p.Ser102Arg) c.521A>C (p.Gln174Pro) | |
19 | g.29702779T= | CA2330913532 | C19orf12 | c.359A= (p.Gln120=) n.750A= c.167A= (p.Gln56=) c.392A= (p.Gln131=) c.304A= (p.Ser102=) c.521A= (p.Gln174=) | |
19 | g.29702780G>A | CA405142519 | C19orf12 | c.358C>T (p.Gln120Ter) n.749C>T c.166C>T (p.Gln56Ter) c.391C>T (p.Gln131Ter) c.303C>T (p.Ser101=) c.520C>T (p.Gln174Ter) | gnomAD v4 |
19 | g.29702780G>C | CA405142521 | C19orf12 | c.358C>G (p.Gln120Glu) n.749C>G c.166C>G (p.Gln56Glu) c.391C>G (p.Gln131Glu) c.303C>G (p.Ser101Arg) c.520C>G (p.Gln174Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.29702780G= | CA2330913533 | C19orf12 | c.358C= (p.Gln120=) n.749C= c.166C= (p.Gln56=) c.391C= (p.Gln131=) c.303C= (p.Ser101=) c.520C= (p.Gln174=) | |
19 | g.29702780G>T | CA405142524 | C19orf12 | c.358C>A (p.Gln120Lys) n.749C>A c.166C>A (p.Gln56Lys) c.391C>A (p.Gln131Lys) c.303C>A (p.Ser101Arg) c.520C>A (p.Gln174Lys) | |
19 | g.29702781C>A | CA405142528 | C19orf12 | c.357G>T (p.Gln119His) n.748G>T c.165G>T (p.Gln55His) c.390G>T (p.Gln130His) c.302G>T (p.Ser101Ile) c.519G>T (p.Gln173His) | |
19 | g.29702781C= | CA2330913534 | C19orf12 | c.357G= (p.Gln119=) n.748G= c.165G= (p.Gln55=) c.390G= (p.Gln130=) c.302G= (p.Ser101=) c.519G= (p.Gln173=) | |
19 | g.29702781C>G | CA405142529 | C19orf12 | c.357G>C (p.Gln119His) n.748G>C c.165G>C (p.Gln55His) c.390G>C (p.Gln130His) c.302G>C (p.Ser101Thr) c.519G>C (p.Gln173His) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.29702781C>T | CA405142532 | C19orf12 | c.357G>A (p.Gln119=) n.748G>A c.165G>A (p.Gln55=) c.390G>A (p.Gln130=) c.302G>A (p.Ser101Asn) c.519G>A (p.Gln173=) | COSMIC COSMIC |
19 | g.29702782T>A | CA405142535 | C19orf12 | c.356A>T (p.Gln119Leu) n.747A>T c.164A>T (p.Gln55Leu) c.389A>T (p.Gln130Leu) c.301A>T (p.Ser101Cys) c.518A>T (p.Gln173Leu) | |
19 | g.29702782T>C | CA306785205 | C19orf12 | c.356A>G (p.Gln119Arg) n.747A>G c.164A>G (p.Gln55Arg) c.389A>G (p.Gln130Arg) c.301A>G (p.Ser101Gly) c.518A>G (p.Gln173Arg) | ClinVar dbSNP |
19 | g.29702782T>G | CA405142539 | C19orf12 | c.356A>C (p.Gln119Pro) n.747A>C c.164A>C (p.Gln55Pro) c.389A>C (p.Gln130Pro) c.301A>C (p.Ser101Arg) c.518A>C (p.Gln173Pro) | |
19 | g.29702782T= | CA2330913535 | C19orf12 | c.356A= (p.Gln119=) n.747A= c.164A= (p.Gln55=) c.389A= (p.Gln130=) c.301A= (p.Ser101=) c.518A= (p.Gln173=) | |
19 | g.29702783G>A | CA405142542 | C19orf12 | c.355C>T (p.Gln119Ter) n.746C>T c.163C>T (p.Gln55Ter) c.388C>T (p.Gln130Ter) c.300C>T (p.Ser100=) c.517C>T (p.Gln173Ter) | |
19 | g.29702783G>C | CA405142546 | C19orf12 | c.355C>G (p.Gln119Glu) n.746C>G c.163C>G (p.Gln55Glu) c.388C>G (p.Gln130Glu) c.300C>G (p.Ser100Arg) c.517C>G (p.Gln173Glu) | |
19 | g.29702783G>T | CA405142544 | C19orf12 | c.355C>A (p.Gln119Lys) n.746C>A c.163C>A (p.Gln55Lys) c.388C>A (p.Gln130Lys) c.300C>A (p.Ser100Arg) c.517C>A (p.Gln173Lys) | |
19 | g.29702788_29702800del | CA2576739842 | C19orf12 | c.343_355del (p.Glu115SerfsTer8) n.734_746del c.151_163del (p.Glu51SerfsTer8) c.376_388del (p.Glu126SerfsTer8) c.291-3_300del c.505_517del (p.Glu169SerfsTer8) | gnomAD v4 |
19 | g.29702784C>A | CA405142549 | C19orf12 | c.354G>T (p.Gln118His) n.745G>T c.162G>T (p.Gln54His) c.387G>T (p.Gln129His) c.299G>T (p.Ser100Ile) c.516G>T (p.Gln172His) | |
19 | g.29702784C>G | CA405142551 | C19orf12 | c.354G>C (p.Gln118His) n.745G>C c.162G>C (p.Gln54His) c.387G>C (p.Gln129His) c.299G>C (p.Ser100Thr) c.516G>C (p.Gln172His) | |
19 | g.29702784C>T | CA405142553 | C19orf12 | c.354G>A (p.Gln118=) n.745G>A c.162G>A (p.Gln54=) c.387G>A (p.Gln129=) c.299G>A (p.Ser100Asn) c.516G>A (p.Gln172=) | |
19 | g.29702785T>A | CA405142557 | C19orf12 | c.353A>T (p.Gln118Leu) n.744A>T c.161A>T (p.Gln54Leu) c.386A>T (p.Gln129Leu) c.298A>T (p.Ser100Cys) c.515A>T (p.Gln172Leu) | |
19 | g.29702785T>C | CA405142559 | C19orf12 | c.353A>G (p.Gln118Arg) n.744A>G c.161A>G (p.Gln54Arg) c.386A>G (p.Gln129Arg) c.298A>G (p.Ser100Gly) c.515A>G (p.Gln172Arg) | |
19 | g.29702785T>G | CA405142562 | C19orf12 | c.353A>C (p.Gln118Pro) n.744A>C c.161A>C (p.Gln54Pro) c.386A>C (p.Gln129Pro) c.298A>C (p.Ser100Arg) c.515A>C (p.Gln172Pro) | |
19 | g.29702785dup | CA2584189484 | C19orf12 | c.353dup (p.Gln119AlafsTer22) n.744dup c.161dup (p.Gln55AlafsTer22) c.386dup (p.Gln130AlafsTer22) c.298dup (p.Ser100LysfsTer25) c.515dup (p.Gln173AlafsTer22) | gnomAD v4 |
19 | g.29702786G>A | CA405142570 | C19orf12 | c.352C>T (p.Gln118Ter) n.743C>T c.160C>T (p.Gln54Ter) c.385C>T (p.Gln129Ter) c.297C>T (p.Cys99=) c.514C>T (p.Gln172Ter) | |
19 | g.29702786G>C | CA405142567 | C19orf12 | c.352C>G (p.Gln118Glu) n.743C>G c.160C>G (p.Gln54Glu) c.385C>G (p.Gln129Glu) c.297C>G (p.Cys99Trp) c.514C>G (p.Gln172Glu) | |
19 | g.29702786G>T | CA405142565 | C19orf12 | c.352C>A (p.Gln118Lys) n.743C>A c.160C>A (p.Gln54Lys) c.385C>A (p.Gln129Lys) c.297C>A (p.Cys99Ter) c.514C>A (p.Gln172Lys) | |
19 | g.29702787C>A | CA405142573 | C19orf12 | c.351G>T (p.Leu117=) n.742G>T c.159G>T (p.Leu53=) c.384G>T (p.Leu128=) c.296G>T (p.Cys99Phe) c.513G>T (p.Leu171=) | |
19 | g.29702787C>G | CA405142575 | C19orf12 | c.351G>C (p.Leu117=) n.742G>C c.159G>C (p.Leu53=) c.384G>C (p.Leu128=) c.296G>C (p.Cys99Ser) c.513G>C (p.Leu171=) | |
19 | g.29702787C>T | CA405142578 | C19orf12 | c.351G>A (p.Leu117=) n.742G>A c.159G>A (p.Leu53=) c.384G>A (p.Leu128=) c.296G>A (p.Cys99Tyr) c.513G>A (p.Leu171=) | gnomAD v4 |
19 | g.29702787_29702788del | CA2499512250 | C19orf12 | c.350_351del (p.Leu117ProfsTer23) n.741_742del c.158_159del (p.Leu53ProfsTer23) c.383_384del (p.Leu128ProfsTer23) c.295_296del (p.Cys99GlnfsTer25) c.512_513del (p.Leu171ProfsTer23) | |
19 | g.29702788A= | CA2330913536 | C19orf12 | c.350T= (p.Leu117=) n.741T= c.158T= (p.Leu53=) c.383T= (p.Leu128=) c.295T= (p.Cys99=) c.512T= (p.Leu171=) | |
19 | g.29702788A>C | CA405142581 | C19orf12 | c.350T>G (p.Leu117Arg) n.741T>G c.158T>G (p.Leu53Arg) c.383T>G (p.Leu128Arg) c.295T>G (p.Cys99Gly) c.512T>G (p.Leu171Arg) | |
19 | g.29702788A>G | CA405142582 | C19orf12 | c.350T>C (p.Leu117Pro) n.741T>C c.158T>C (p.Leu53Pro) c.383T>C (p.Leu128Pro) c.295T>C (p.Cys99Arg) c.512T>C (p.Leu171Pro) | dbSNP |
19 | g.29702788A>T | CA405142585 | C19orf12 | c.350T>A (p.Leu117Gln) n.741T>A c.158T>A (p.Leu53Gln) c.383T>A (p.Leu128Gln) c.295T>A (p.Cys99Ser) c.512T>A (p.Leu171Gln) | |
19 | g.29702789G>A | CA9351874 | C19orf12 | c.349C>T c.349C>T (p.Leu117=) n.740C>T c.157C>T (p.Leu53=) c.382C>T (p.Leu128=) c.294C>T (p.Pro98=) c.511C>T (p.Leu171=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.29702789G>C | CA405142592 | C19orf12 | c.349C>G c.349C>G (p.Leu117Val) n.740C>G c.157C>G (p.Leu53Val) c.382C>G (p.Leu128Val) c.294C>G (p.Pro98=) c.511C>G (p.Leu171Val) | |
19 | g.29702789G= | CA2330913537 | C19orf12 | c.349C= c.349C= (p.Leu117=) n.740C= c.157C= (p.Leu53=) c.382C= (p.Leu128=) c.294C= (p.Pro98=) c.511C= (p.Leu171=) | |
19 | g.29702789G>T | CA405142590 | C19orf12 | c.349C>A c.349C>A (p.Leu117Met) n.740C>A c.157C>A (p.Leu53Met) c.382C>A (p.Leu128Met) c.294C>A (p.Pro98=) c.511C>A (p.Leu171Met) | |
19 | g.29702790G>A | CA405142594 | C19orf12 | c.348C>T (p.Ala116=) n.739C>T c.156C>T (p.Ala52=) c.381C>T (p.Ala127=) c.293C>T (p.Pro98Leu) c.510C>T (p.Ala170=) | |
19 | g.29702790G>C | CA405142596 | C19orf12 | c.348C>G (p.Ala116=) n.739C>G c.156C>G (p.Ala52=) c.381C>G (p.Ala127=) c.293C>G (p.Pro98Arg) c.510C>G (p.Ala170=) | |
19 | g.29702790G>T | CA405142598 | C19orf12 | c.348C>A (p.Ala116=) n.739C>A c.156C>A (p.Ala52=) c.381C>A (p.Ala127=) c.293C>A (p.Pro98His) c.510C>A (p.Ala170=) | |
19 | g.29702790_29702800del | CA2549114375 | C19orf12 | c.338_348del (p.Gly113=) c.338_348del (p.Gly113AlafsTer24) n.729_739del c.146_156del (p.Gly49AlafsTer24) c.371_381del (p.Gly124AlafsTer24) c.291-8_293del c.500_510del (p.Gly167AlafsTer24) | |
19 | g.29702791G>A | CA405142601 | C19orf12 | c.347C>T (p.Ala116Val) n.738C>T c.155C>T (p.Ala52Val) c.380C>T (p.Ala127Val) c.292C>T (p.Pro98Ser) c.509C>T (p.Ala170Val) | dbSNP |
19 | g.29702791G>C | CA405142603 | C19orf12 | c.347C>G (p.Ala116Gly) n.738C>G c.155C>G (p.Ala52Gly) c.380C>G (p.Ala127Gly) c.292C>G (p.Pro98Ala) c.509C>G (p.Ala170Gly) | gnomAD v4 |
19 | g.29702791G= | CA2330913538 | C19orf12 | c.347C= (p.Ala116=) n.738C= c.155C= (p.Ala52=) c.380C= (p.Ala127=) c.292C= (p.Pro98=) c.509C= (p.Ala170=) | |
19 | g.29702791G>T | CA405142606 | C19orf12 | c.347C>A (p.Ala116Asp) n.738C>A c.155C>A (p.Ala52Asp) c.380C>A (p.Ala127Asp) c.292C>A (p.Pro98Thr) c.509C>A (p.Ala170Asp) | ClinVar gnomAD v4 |
19 | g.29702792C>A | CA405142608 | C19orf12 | c.346G>T (p.Ala116Ser) n.737G>T c.154G>T (p.Ala52Ser) c.379G>T (p.Ala127Ser) c.291G>T (p.Arg97Ser) c.508G>T (p.Ala170Ser) | |
19 | g.29702792C= | CA2330913539 | C19orf12 | c.346G= (p.Ala116=) n.737G= c.154G= (p.Ala52=) c.379G= (p.Ala127=) c.291G= (p.Arg97=) c.508G= (p.Ala170=) | |
19 | g.29702792C>G | CA405142611 | C19orf12 | c.346G>C (p.Ala116Pro) n.737G>C c.154G>C (p.Ala52Pro) c.379G>C (p.Ala127Pro) c.291G>C (p.Arg97Ser) c.508G>C (p.Ala170Pro) | |
19 | g.29702792C>T | CA306785208 | C19orf12 | c.346G>A (p.Ala116Thr) n.737G>A c.154G>A (p.Ala52Thr) c.379G>A (p.Ala127Thr) c.291G>A (p.Arg97=) c.508G>A (p.Ala170Thr) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.29702793C>A | CA405142615 | C19orf12 | c.345G>T (p.Glu115Asp) n.736G>T c.153G>T (p.Glu51Asp) c.378G>T (p.Glu126Asp) c.291-1G>T (n.291-1G>T) c.507G>T (p.Glu169Asp) | |
19 | g.29702793C= | CA2330913540 | C19orf12 | c.345G= (p.Glu115=) n.736G= c.153G= (p.Glu51=) c.378G= (p.Glu126=) c.291-1G= (n.291-1G=) c.507G= (p.Glu169=) | |
19 | g.29702793C>G | CA405142617 | C19orf12 | c.345G>C (p.Glu115Asp) n.736G>C c.153G>C (p.Glu51Asp) c.378G>C (p.Glu126Asp) c.291-1G>C (n.291-1G>C) c.507G>C (p.Glu169Asp) | |
19 | g.29702793C>T | CA9351875 | C19orf12 | c.345G>A (p.Glu115=) n.736G>A c.153G>A (p.Glu51=) c.378G>A (p.Glu126=) c.291-1G>A (n.291-1G>A) c.507G>A (p.Glu169=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.29702794T>A | CA405142622 | C19orf12 | c.344A>T (p.Glu115Val) n.735A>T c.152A>T (p.Glu51Val) c.377A>T (p.Glu126Val) c.291-2A>T (n.291-2A>T) c.506A>T (p.Glu169Val) | |
19 | g.29702794T>C | CA405142625 | C19orf12 | c.344A>G (p.Glu115Gly) n.735A>G c.152A>G (p.Glu51Gly) c.377A>G (p.Glu126Gly) c.291-2A>G (n.291-2A>G) c.506A>G (p.Glu169Gly) | |
19 | g.29702794T>G | CA405142623 | C19orf12 | c.344A>C (p.Glu115Ala) n.735A>C c.152A>C (p.Glu51Ala) c.377A>C (p.Glu126Ala) c.291-2A>C (n.291-2A>C) c.506A>C (p.Glu169Ala) | |
19 | g.29702795C>A | CA405142628 | C19orf12 | c.343G>T (p.Glu115Ter) n.734G>T c.151G>T (p.Glu51Ter) c.376G>T (p.Glu126Ter) c.291-3G>T (n.291-3G>T) c.505G>T (p.Glu169Ter) | |
19 | g.29702795C= | CA2330913541 | C19orf12 | c.343G= (p.Glu115=) n.734G= c.151G= (p.Glu51=) c.376G= (p.Glu126=) c.291-3G= (n.291-3G=) c.505G= (p.Glu169=) | |
19 | g.29702795C>G | CA405142630 | C19orf12 | c.343G>C (p.Glu115Gln) n.734G>C c.151G>C (p.Glu51Gln) c.376G>C (p.Glu126Gln) c.291-3G>C (n.291-3G>C) c.505G>C (p.Glu169Gln) | |
19 | g.29702795C>T | CA9351876 | C19orf12 | c.343G>A (p.Glu115Lys) n.734G>A c.151G>A (p.Glu51Lys) c.376G>A (p.Glu126Lys) c.291-3G>A (n.291-3G>A) c.505G>A (p.Glu169Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.29702796G>A | CA9351877 | C19orf12 | c.342C>T (p.Ser114=) n.733C>T c.150C>T (p.Ser50=) c.375C>T (p.Ser125=) c.291-4C>T (n.291-4C>T) c.504C>T (p.Ser168=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.29702796G>C | CA405142636 | C19orf12 | c.342C>G (p.Ser114Arg) n.733C>G c.150C>G (p.Ser50Arg) c.375C>G (p.Ser125Arg) c.291-4C>G (n.291-4C>G) c.504C>G (p.Ser168Arg) | |
19 | g.29702796G= | CA2330913542 | C19orf12 | c.342C= (p.Ser114=) n.733C= c.150C= (p.Ser50=) c.375C= (p.Ser125=) c.291-4C= (n.291-4C=) c.504C= (p.Ser168=) | |
19 | g.29702796G>T | CA405142637 | C19orf12 | c.342C>A (p.Ser114Arg) n.733C>A c.150C>A (p.Ser50Arg) c.375C>A (p.Ser125Arg) c.291-4C>A (n.291-4C>A) c.504C>A (p.Ser168Arg) | |
19 | g.29702797C>A | CA405142640 | C19orf12 | c.341G>T (p.Ser114Ile) n.732G>T c.149G>T (p.Ser50Ile) c.374G>T (p.Ser125Ile) c.291-5G>T (n.291-5G>T) c.503G>T (p.Ser168Ile) | |
19 | g.29702797C>G | CA405142642 | C19orf12 | c.341G>C (p.Ser114Thr) n.732G>C c.149G>C (p.Ser50Thr) c.374G>C (p.Ser125Thr) c.291-5G>C (n.291-5G>C) c.503G>C (p.Ser168Thr) | |
19 | g.29702797C>T | CA405142644 | C19orf12 | c.341G>A (p.Ser114Asn) n.732G>A c.149G>A (p.Ser50Asn) c.374G>A (p.Ser125Asn) c.291-5G>A (n.291-5G>A) c.503G>A (p.Ser168Asn) | |
19 | g.29702798T>A | CA405142647 | C19orf12 | c.340A>T (p.Ser114Cys) n.731A>T c.148A>T (p.Ser50Cys) c.373A>T (p.Ser125Cys) c.291-6A>T (n.291-6A>T) c.502A>T (p.Ser168Cys) | |
19 | g.29702798T>C | CA405142649 | C19orf12 | c.340A>G (p.Ser114Gly) n.731A>G c.148A>G (p.Ser50Gly) c.373A>G (p.Ser125Gly) c.291-6A>G (n.291-6A>G) c.502A>G (p.Ser168Gly) | |
19 | g.29702798T>G | CA405142652 | C19orf12 | c.340A>C (p.Ser114Arg) n.731A>C c.148A>C (p.Ser50Arg) c.373A>C (p.Ser125Arg) c.291-6A>C (n.291-6A>C) c.502A>C (p.Ser168Arg) | |
19 | g.29702799G>A | CA506986834 | C19orf12 | c.339C>T (p.Gly113=) n.730C>T c.147C>T (p.Gly49=) c.372C>T (p.Gly124=) c.291-7C>T (n.291-7C>T) c.501C>T (p.Gly167=) | |
19 | g.29702799G>C | CA506986831 | C19orf12 | c.339C>G (p.Gly113=) n.730C>G c.147C>G (p.Gly49=) c.372C>G (p.Gly124=) c.291-7C>G (n.291-7C>G) c.501C>G (p.Gly167=) | |
19 | g.29702799G>T | CA506986829 | C19orf12 | c.339C>A (p.Gly113=) n.730C>A c.147C>A (p.Gly49=) c.372C>A (p.Gly124=) c.291-7C>A (n.291-7C>A) c.501C>A (p.Gly167=) | |
19 | g.29702800C>A | CA405142659 | C19orf12 | c.338G>T (p.Gly113Val) n.729G>T c.146G>T (p.Gly49Val) c.371G>T (p.Gly124Val) c.291-8G>T (n.291-8G>T) c.500G>T (p.Gly167Val) | |
19 | g.29702800C= | CA2330913543 | C19orf12 | c.338G= (p.Gly113=) n.729G= c.146G= (p.Gly49=) c.371G= (p.Gly124=) c.291-8G= (n.291-8G=) c.500G= (p.Gly167=) | |
19 | g.29702800C>G | CA405142657 | C19orf12 | c.338G>C (p.Gly113Ala) n.729G>C c.146G>C (p.Gly49Ala) c.371G>C (p.Gly124Ala) c.291-8G>C (n.291-8G>C) c.500G>C (p.Gly167Ala) | |
19 | g.29702800C>T | CA306785242 | C19orf12 | c.338G>A (p.Gly113Asp) n.729G>A c.146G>A (p.Gly49Asp) c.371G>A (p.Gly124Asp) c.291-8G>A (n.291-8G>A) c.500G>A (p.Gly167Asp) | dbSNP |
19 | g.29702801C>A | CA405142660 | C19orf12 | c.337G>T (p.Gly113Cys) n.728G>T c.145G>T (p.Gly49Cys) c.370G>T (p.Gly124Cys) c.291-9G>T (n.291-9G>T) c.499G>T (p.Gly167Cys) | |
19 | g.29702801C= | CA2330913544 | C19orf12 | c.337G= (p.Gly113=) n.728G= c.145G= (p.Gly49=) c.370G= (p.Gly124=) c.291-9G= (n.291-9G=) c.499G= (p.Gly167=) | |
19 | g.29702801C>G | CA405142663 | C19orf12 | c.337G>C (p.Gly113Arg) n.728G>C c.145G>C (p.Gly49Arg) c.370G>C (p.Gly124Arg) c.291-9G>C (n.291-9G>C) c.499G>C (p.Gly167Arg) | |
19 | g.29702801C>T | CA405142665 | C19orf12 | c.337G>A (p.Gly113Ser) n.728G>A c.145G>A (p.Gly49Ser) c.370G>A (p.Gly124Ser) c.291-9G>A (n.291-9G>A) c.499G>A (p.Gly167Ser) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.29702802C>A | CA405142667 | C19orf12 | c.336G>T (p.Met112Ile) n.727G>T c.144G>T (p.Met48Ile) c.369G>T (p.Met123Ile) c.291-10G>T (n.291-10G>T) c.498G>T (p.Met166Ile) | |
19 | g.29702802C= | CA2330913545 | C19orf12 | c.336G= (p.Met112=) n.727G= c.144G= (p.Met48=) c.369G= (p.Met123=) c.291-10G= (n.291-10G=) c.498G= (p.Met166=) | |
19 | g.29702802C>G | CA405142668 | C19orf12 | c.336G>C (p.Met112Ile) n.727G>C c.144G>C (p.Met48Ile) c.369G>C (p.Met123Ile) c.291-10G>C (n.291-10G>C) c.498G>C (p.Met166Ile) | |
19 | g.29702802C>T | CA405142671 | C19orf12 | c.336G>A (p.Met112Ile) n.727G>A c.144G>A (p.Met48Ile) c.369G>A (p.Met123Ile) c.291-10G>A (n.291-10G>A) c.498G>A (p.Met166Ile) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.29702803A= | CA2330913546 | C19orf12 | c.335T= (p.Met112=) n.726T= c.143T= (p.Met48=) c.368T= (p.Met123=) c.291-11T= (n.291-11T=) c.497T= (p.Met166=) | |
19 | g.29702803A>C | CA405142674 | C19orf12 | c.335T>G (p.Met112Arg) n.726T>G c.143T>G (p.Met48Arg) c.368T>G (p.Met123Arg) c.291-11T>G (n.291-11T>G) c.497T>G (p.Met166Arg) | |
19 | g.29702803A>G | CA405142676 | C19orf12 | c.335T>C (p.Met112Thr) n.726T>C c.143T>C (p.Met48Thr) c.368T>C (p.Met123Thr) c.291-11T>C (n.291-11T>C) c.497T>C (p.Met166Thr) | |
19 | g.29702803A>T | CA405142679 | C19orf12 | c.335T>A (p.Met112Lys) n.726T>A c.143T>A (p.Met48Lys) c.368T>A (p.Met123Lys) c.291-11T>A (n.291-11T>A) c.497T>A (p.Met166Lys) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.29702804T>A | CA405142682 | C19orf12 | c.334A>T (p.Met112Leu) n.725A>T c.142A>T (p.Met48Leu) c.367A>T (p.Met123Leu) c.291-12A>T (n.291-12A>T) c.496A>T (p.Met166Leu) | |
19 | g.29702804T>C | CA405142684 | C19orf12 | c.334A>G (p.Met112Val) n.725A>G c.142A>G (p.Met48Val) c.367A>G (p.Met123Val) c.291-12A>G (n.291-12A>G) c.496A>G (p.Met166Val) | ClinVar dbSNP |
19 | g.29702804T>G | CA405142686 | C19orf12 | c.334A>C (p.Met112Leu) n.725A>C c.142A>C (p.Met48Leu) c.367A>C (p.Met123Leu) c.291-12A>C (n.291-12A>C) c.496A>C (p.Met166Leu) | dbSNP |
19 | g.29702804T= | CA2330913547 | C19orf12 | c.334A= (p.Met112=) n.725A= c.142A= (p.Met48=) c.367A= (p.Met123=) c.291-12A= (n.291-12A=) c.496A= (p.Met166=) | |
19 | g.29702805G>A | CA506986867 | C19orf12 | c.333C>T (p.Val111=) n.724C>T c.141C>T (p.Val47=) c.366C>T (p.Val122=) c.291-13C>T (n.291-13C>T) c.495C>T (p.Val165=) | |
19 | g.29702805G>C | CA506986870 | C19orf12 | c.333C>G (p.Val111=) n.724C>G c.141C>G (p.Val47=) c.366C>G (p.Val122=) c.291-13C>G (n.291-13C>G) c.495C>G (p.Val165=) | |
19 | g.29702805G>T | CA506986869 | C19orf12 | c.333C>A (p.Val111=) n.724C>A c.141C>A (p.Val47=) c.366C>A (p.Val122=) c.291-13C>A (n.291-13C>A) c.495C>A (p.Val165=) | gnomAD v4 |
19 | g.29702806A= | CA2330913548 | C19orf12 | c.332T= (p.Val111=) n.723T= c.140T= (p.Val47=) c.365T= (p.Val122=) c.291-14T= (n.291-14T=) c.494T= (p.Val165=) | |
19 | g.29702806A>C | CA405142693 | C19orf12 | c.332T>G (p.Val111Gly) n.723T>G c.140T>G (p.Val47Gly) c.365T>G (p.Val122Gly) c.291-14T>G (n.291-14T>G) c.494T>G (p.Val165Gly) | |
19 | g.29702806A>G | CA405142691 | C19orf12 | c.332T>C (p.Val111Ala) n.723T>C c.140T>C (p.Val47Ala) c.365T>C (p.Val122Ala) c.291-14T>C (n.291-14T>C) c.494T>C (p.Val165Ala) | ClinVar dbSNP |
19 | g.29702806A>T | CA405142690 | C19orf12 | c.332T>A (p.Val111Asp) n.723T>A c.140T>A (p.Val47Asp) c.365T>A (p.Val122Asp) c.291-14T>A (n.291-14T>A) c.494T>A (p.Val165Asp) | dbSNP |
19 | g.29702807C>A | CA405142696 | C19orf12 | c.331G>T (p.Val111Phe) n.722G>T c.139G>T (p.Val47Phe) c.364G>T (p.Val122Phe) c.291-15G>T (n.291-15G>T) c.493G>T (p.Val165Phe) | |
19 | g.29702807C= | CA2330913549 | C19orf12 | c.331G= (p.Val111=) n.722G= c.139G= (p.Val47=) c.364G= (p.Val122=) c.291-15G= (n.291-15G=) c.493G= (p.Val165=) | |
19 | g.29702807C>G | CA405142699 | C19orf12 | c.331G>C (p.Val111Leu) n.722G>C c.139G>C (p.Val47Leu) c.364G>C (p.Val122Leu) c.291-15G>C (n.291-15G>C) c.493G>C (p.Val165Leu) | |
19 | g.29702807C>T | CA9351878 | C19orf12 | c.331G>A (p.Val111Ile) n.722G>A c.139G>A (p.Val47Ile) c.364G>A (p.Val122Ile) c.291-15G>A (n.291-15G>A) c.493G>A (p.Val165Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.29702808C>A | CA506986885 | C19orf12 | c.330G>T (p.Leu110=) n.721G>T c.138G>T (p.Leu46=) c.363G>T (p.Leu121=) c.291-16G>T (n.291-16G>T) c.492G>T (p.Leu164=) | |
19 | g.29702808C= | CA2330913550 | C19orf12 | c.330G= (p.Leu110=) n.721G= c.138G= (p.Leu46=) c.363G= (p.Leu121=) c.291-16G= (n.291-16G=) c.492G= (p.Leu164=) | |
19 | g.29702808C>G | CA506986887 | C19orf12 | c.330G>C (p.Leu110=) n.721G>C c.138G>C (p.Leu46=) c.363G>C (p.Leu121=) c.291-16G>C (n.291-16G>C) c.492G>C (p.Leu164=) | dbSNP gnomAD v4 |
19 | g.29702808C>T | CA9351879 | C19orf12 | c.330G>A (p.Leu110=) n.721G>A c.138G>A (p.Leu46=) c.363G>A (p.Leu121=) c.291-16G>A (n.291-16G>A) c.492G>A (p.Leu164=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.29702809A= | CA2330913551 | C19orf12 | c.329T= (p.Leu110=) n.720T= c.137T= (p.Leu46=) c.362T= (p.Leu121=) c.291-17T= (n.291-17T=) c.491T= (p.Leu164=) | |
19 | g.29702809A>C | CA405142705 | C19orf12 | c.329T>G (p.Leu110Arg) n.720T>G c.137T>G (p.Leu46Arg) c.362T>G (p.Leu121Arg) c.291-17T>G (n.291-17T>G) c.491T>G (p.Leu164Arg) | |
19 | g.29702809A>G | CA9351880 | C19orf12 | c.329T>C (p.Leu110Pro) n.720T>C c.137T>C (p.Leu46Pro) c.362T>C (p.Leu121Pro) c.291-17T>C (n.291-17T>C) c.491T>C (p.Leu164Pro) | dbSNP ExAC |
19 | g.29702809A>T | CA405142707 | C19orf12 | c.329T>A (p.Leu110Gln) n.720T>A c.137T>A (p.Leu46Gln) c.362T>A (p.Leu121Gln) c.291-17T>A (n.291-17T>A) c.491T>A (p.Leu164Gln) | |
19 | g.29702810G>A | CA506986900 | C19orf12 | c.328C>T (p.Leu110=) n.719C>T c.136C>T (p.Leu46=) c.361C>T (p.Leu121=) c.291-18C>T (n.291-18C>T) c.490C>T (p.Leu164=) | COSMIC COSMIC |
19 | g.29702810G>C | CA405142708 | C19orf12 | c.328C>G (p.Leu110Val) n.719C>G c.136C>G (p.Leu46Val) c.361C>G (p.Leu121Val) c.291-18C>G (n.291-18C>G) c.490C>G (p.Leu164Val) | |
19 | g.29702810G>T | CA405142710 | C19orf12 | c.328C>A (p.Leu110Met) n.719C>A c.136C>A (p.Leu46Met) c.361C>A (p.Leu121Met) c.291-18C>A (n.291-18C>A) c.490C>A (p.Leu164Met) | |
19 | g.29702811C>A | CA506986904 | C19orf12 | c.327G>T (p.Ala109=) n.718G>T c.135G>T (p.Ala45=) c.360G>T (p.Ala120=) c.291-19G>T (n.291-19G>T) c.489G>T (p.Ala163=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.29702811C= | CA2330913552 | C19orf12 | c.327G= (p.Ala109=) n.718G= c.135G= (p.Ala45=) c.360G= (p.Ala120=) c.291-19G= (n.291-19G=) c.489G= (p.Ala163=) | |
19 | g.29702811C>G | CA506986907 | C19orf12 | c.327G>C (p.Ala109=) n.718G>C c.135G>C (p.Ala45=) c.360G>C (p.Ala120=) c.291-19G>C (n.291-19G>C) c.489G>C (p.Ala163=) | |
19 | g.29702811C>T | CA9351881 | C19orf12 | c.327G>A (p.Ala109=) n.718G>A c.135G>A (p.Ala45=) c.360G>A (p.Ala120=) c.291-19G>A (n.291-19G>A) c.489G>A (p.Ala163=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
19 | g.29702812G>A | CA9351882 | C19orf12 | c.326C>T (p.Ala109Val) n.717C>T c.134C>T (p.Ala45Val) c.359C>T (p.Ala120Val) c.291-20C>T (n.291-20C>T) c.488C>T (p.Ala163Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.29702812G>C | CA405142714 | C19orf12 | c.326C>G (p.Ala109Gly) n.717C>G c.134C>G (p.Ala45Gly) c.359C>G (p.Ala120Gly) c.291-20C>G (n.291-20C>G) c.488C>G (p.Ala163Gly) | |
19 | g.29702812G= | CA2330913553 | C19orf12 | c.326C= (p.Ala109=) n.717C= c.134C= (p.Ala45=) c.359C= (p.Ala120=) c.291-20C= (n.291-20C=) c.488C= (p.Ala163=) | |
19 | g.29702812G>T | CA405142716 | C19orf12 | c.326C>A (p.Ala109Glu) n.717C>A c.134C>A (p.Ala45Glu) c.359C>A (p.Ala120Glu) c.291-20C>A (n.291-20C>A) c.488C>A (p.Ala163Glu) | |
19 | g.29702813C>A | CA405142719 | C19orf12 | c.325G>T (p.Ala109Ser) n.716G>T c.133G>T (p.Ala45Ser) c.358G>T (p.Ala120Ser) c.291-21G>T (n.291-21G>T) c.487G>T (p.Ala163Ser) | |
19 | g.29702813C= | CA2330913554 | C19orf12 | c.325G= (p.Ala109=) n.716G= c.133G= (p.Ala45=) c.358G= (p.Ala120=) c.291-21G= (n.291-21G=) c.487G= (p.Ala163=) | |
19 | g.29702813C>G | CA405142721 | C19orf12 | c.325G>C (p.Ala109Pro) n.716G>C c.133G>C (p.Ala45Pro) c.358G>C (p.Ala120Pro) c.291-21G>C (n.291-21G>C) c.487G>C (p.Ala163Pro) | |
19 | g.29702813C>T | CA405142723 | C19orf12 | c.325G>A (p.Ala109Thr) n.716G>A c.133G>A (p.Ala45Thr) c.358G>A (p.Ala120Thr) c.291-21G>A (n.291-21G>A) c.487G>A (p.Ala163Thr) | dbSNP |
19 | g.29702813dup | CA2695228505 | C19orf12 | c.325dup (p.Ala109GlyfsTer?) n.716dup c.133dup (p.Ala45GlyfsTer?) c.358dup (p.Ala120GlyfsTer?) c.291-21dup (n.291-21dup) c.487dup (p.Ala163GlyfsTer?) | |
19 | g.29702814G>A | CA152059 | C19orf12 | c.324C>T (p.Thr108=) n.715C>T c.132C>T (p.Thr44=) c.357C>T (p.Thr119=) c.291-22C>T (n.291-22C>T) c.486C>T (p.Thr162=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.29702814G>C | CA506986925 | C19orf12 | c.324C>G (p.Thr108=) n.715C>G c.132C>G (p.Thr44=) c.357C>G (p.Thr119=) c.291-22C>G (n.291-22C>G) c.486C>G (p.Thr162=) | |
19 | g.29702814G= | CA2330913555 | C19orf12 | c.324C= (p.Thr108=) n.715C= c.132C= (p.Thr44=) c.357C= (p.Thr119=) c.291-22C= (n.291-22C=) c.486C= (p.Thr162=) | |
19 | g.29702814G>T | CA506986927 | C19orf12 | c.324C>A (p.Thr108=) n.715C>A c.132C>A (p.Thr44=) c.357C>A (p.Thr119=) c.291-22C>A (n.291-22C>A) c.486C>A (p.Thr162=) | dbSNP gnomAD v4 |
19 | g.29702815dup | CA2580060372 | C19orf12 | c.324dup (p.Ala109ArgfsTer?) n.715dup c.132dup (p.Ala45ArgfsTer?) c.357dup (p.Ala120ArgfsTer?) c.291-22dup (n.291-22dup) c.486dup (p.Ala163ArgfsTer?) | |
19 | g.29702815G>A | CA405142728 | C19orf12 | c.323C>T (p.Thr108Ile) n.714C>T c.131C>T (p.Thr44Ile) c.356C>T (p.Thr119Ile) c.291-23C>T (n.291-23C>T) c.485C>T (p.Thr162Ile) | gnomAD v4 |
19 | g.29702815G>C | CA405142731 | C19orf12 | c.323C>G (p.Thr108Ser) n.714C>G c.131C>G (p.Thr44Ser) c.356C>G (p.Thr119Ser) c.291-23C>G (n.291-23C>G) c.485C>G (p.Thr162Ser) | |
19 | g.29702815G>T | CA405142733 | C19orf12 | c.323C>A (p.Thr108Asn) n.714C>A c.131C>A (p.Thr44Asn) c.356C>A (p.Thr119Asn) c.291-23C>A (n.291-23C>A) c.485C>A (p.Thr162Asn) | |
19 | g.29702816T>A | CA405142736 | C19orf12 | c.322A>T (p.Thr108Ser) n.713A>T c.130A>T (p.Thr44Ser) c.355A>T (p.Thr119Ser) c.291-24A>T (n.291-24A>T) c.484A>T (p.Thr162Ser) | |
19 | g.29702816T>C | CA405142738 | C19orf12 | c.322A>G (p.Thr108Ala) n.713A>G c.130A>G (p.Thr44Ala) c.355A>G (p.Thr119Ala) c.291-24A>G (n.291-24A>G) c.484A>G (p.Thr162Ala) | |
19 | g.29702816T>G | CA9351883 | C19orf12 | c.322A>C (p.Thr108Pro) n.713A>C c.130A>C (p.Thr44Pro) c.355A>C (p.Thr119Pro) c.291-24A>C (n.291-24A>C) c.484A>C (p.Thr162Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.29702816T= | CA2330913556 | C19orf12 | c.322A= (p.Thr108=) n.713A= c.130A= (p.Thr44=) c.355A= (p.Thr119=) c.291-24A= (n.291-24A=) c.484A= (p.Thr162=) | |
19 | g.29702817C>A | CA506986941 | C19orf12 | c.321G>T (p.Leu107=) n.712G>T c.129G>T (p.Leu43=) c.354G>T (p.Leu118=) c.291-25G>T (n.291-25G>T) c.483G>T (p.Leu161=) | |
19 | g.29702817C>G | CA506986943 | C19orf12 | c.321G>C (p.Leu107=) n.712G>C c.129G>C (p.Leu43=) c.354G>C (p.Leu118=) c.291-25G>C (n.291-25G>C) c.483G>C (p.Leu161=) | |
19 | g.29702817C>T | CA506986946 | C19orf12 | c.321G>A (p.Leu107=) n.712G>A c.129G>A (p.Leu43=) c.354G>A (p.Leu118=) c.291-25G>A (n.291-25G>A) c.483G>A (p.Leu161=) | |
19 | g.29702818A= | CA2330913557 | C19orf12 | c.320T= (p.Leu107=) n.711T= c.128T= (p.Leu43=) c.353T= (p.Leu118=) c.291-26T= (n.291-26T=) c.482T= (p.Leu161=) | |
19 | g.29702818A>C | CA9351884 | C19orf12 | c.320T>G (p.Leu107Arg) n.711T>G c.128T>G (p.Leu43Arg) c.353T>G (p.Leu118Arg) c.291-26T>G (n.291-26T>G) c.482T>G (p.Leu161Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.29702818A>G | CA405142745 | C19orf12 | c.320T>C (p.Leu107Pro) n.711T>C c.128T>C (p.Leu43Pro) c.353T>C (p.Leu118Pro) c.291-26T>C (n.291-26T>C) c.482T>C (p.Leu161Pro) | gnomAD v4 |
19 | g.29702818A>T | CA405142743 | C19orf12 | c.320T>A (p.Leu107Gln) n.711T>A c.128T>A (p.Leu43Gln) c.353T>A (p.Leu118Gln) c.291-26T>A (n.291-26T>A) c.482T>A (p.Leu161Gln) | |
19 | g.29702819G>A | CA506986973 | C19orf12 | c.319C>T (p.Leu107=) n.710C>T c.127C>T (p.Leu43=) c.352C>T (p.Leu118=) c.319C>T c.291-27C>T (n.291-27C>T) c.481C>T (p.Leu161=) | |
19 | g.29702819G>C | CA405142749 | C19orf12 | c.319C>G (p.Leu107Val) n.710C>G c.127C>G (p.Leu43Val) c.352C>G (p.Leu118Val) c.319C>G c.291-27C>G (n.291-27C>G) c.481C>G (p.Leu161Val) | |
19 | g.29702819G= | CA2330913558 | C19orf12 | c.319C= (p.Leu107=) n.710C= c.127C= (p.Leu43=) c.352C= (p.Leu118=) c.319C= c.291-27C= (n.291-27C=) c.481C= (p.Leu161=) | |
19 | g.29702819G>T | CA405142751 | C19orf12 | c.319C>A (p.Leu107Met) n.710C>A c.127C>A (p.Leu43Met) c.352C>A (p.Leu118Met) c.319C>A c.291-27C>A (n.291-27C>A) c.481C>A (p.Leu161Met) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.29702820C>A | CA405142754 | C19orf12 | c.318G>T (p.Gln106His) n.709G>T c.126G>T (p.Gln42His) c.351G>T (p.Gln117His) c.291-28G>T (n.291-28G>T) c.480G>T (p.Gln160His) | |
19 | g.29702820C>G | CA405142756 | C19orf12 | c.318G>C (p.Gln106His) n.709G>C c.126G>C (p.Gln42His) c.351G>C (p.Gln117His) c.291-28G>C (n.291-28G>C) c.480G>C (p.Gln160His) | |
19 | g.29702820C>T | CA506986983 | C19orf12 | c.318G>A (p.Gln106=) n.709G>A c.126G>A (p.Gln42=) c.351G>A (p.Gln117=) c.291-28G>A (n.291-28G>A) c.480G>A (p.Gln160=) | gnomAD v4 |
19 | g.29702821T>A | CA405142759 | C19orf12 | c.317A>T (p.Gln106Leu) n.708A>T c.125A>T (p.Gln42Leu) c.350A>T (p.Gln117Leu) c.290+27A>T (n.290+27A>T) c.479A>T (p.Gln160Leu) | |
19 | g.29702821T>C | CA405142760 | C19orf12 | c.317A>G (p.Gln106Arg) n.708A>G c.125A>G (p.Gln42Arg) c.350A>G (p.Gln117Arg) c.290+27A>G (n.290+27A>G) c.479A>G (p.Gln160Arg) | dbSNP |
19 | g.29702821T>G | CA405142763 | C19orf12 | c.317A>C (p.Gln106Pro) n.708A>C c.125A>C (p.Gln42Pro) c.350A>C (p.Gln117Pro) c.290+27A>C (n.290+27A>C) c.479A>C (p.Gln160Pro) | |
19 | g.29702821T= | CA2330913559 | C19orf12 | c.317A= (p.Gln106=) n.708A= c.125A= (p.Gln42=) c.350A= (p.Gln117=) c.290+27A= (n.290+27A=) c.479A= (p.Gln160=) | |
19 | g.29702822G>A | CA405142766 | C19orf12 | c.316C>T (p.Gln106Ter) n.707C>T c.124C>T (p.Gln42Ter) c.349C>T (p.Gln117Ter) c.290+26C>T (n.290+26C>T) c.478C>T (p.Gln160Ter) | |
19 | g.29702822G>C | CA405142768 | C19orf12 | c.316C>G (p.Gln106Glu) n.707C>G c.124C>G (p.Gln42Glu) c.349C>G (p.Gln117Glu) c.290+26C>G (n.290+26C>G) c.478C>G (p.Gln160Glu) | |
19 | g.29702822G>T | CA405142770 | C19orf12 | c.316C>A (p.Gln106Lys) n.707C>A c.124C>A (p.Gln42Lys) c.349C>A (p.Gln117Lys) c.290+26C>A (n.290+26C>A) c.478C>A (p.Gln160Lys) | |
19 | g.29702823C>A | CA506986995 | C19orf12 | c.315G>T (p.Val105=) n.706G>T c.123G>T (p.Val41=) c.348G>T (p.Val116=) c.290+25G>T (n.290+25G>T) c.477G>T (p.Val159=) | |
19 | g.29702823C>G | CA506986997 | C19orf12 | c.315G>C (p.Val105=) n.706G>C c.123G>C (p.Val41=) c.348G>C (p.Val116=) c.290+25G>C (n.290+25G>C) c.477G>C (p.Val159=) | |
19 | g.29702823C>T | CA506986999 | C19orf12 | c.315G>A (p.Val105=) n.706G>A c.123G>A (p.Val41=) c.348G>A (p.Val116=) c.290+25G>A (n.290+25G>A) c.477G>A (p.Val159=) | |
19 | g.29702824A>C | CA405142773 | C19orf12 | c.314T>G (p.Val105Gly) n.705T>G c.122T>G (p.Val41Gly) c.347T>G (p.Val116Gly) c.290+24T>G (n.290+24T>G) c.476T>G (p.Val159Gly) | |
19 | g.29702824A>G | CA405142774 | C19orf12 | c.314T>C (p.Val105Ala) n.705T>C c.122T>C (p.Val41Ala) c.347T>C (p.Val116Ala) c.290+24T>C (n.290+24T>C) c.476T>C (p.Val159Ala) | |
19 | g.29702824A>T | CA405142776 | C19orf12 | c.314T>A (p.Val105Glu) n.705T>A c.122T>A (p.Val41Glu) c.347T>A (p.Val116Glu) c.290+24T>A (n.290+24T>A) c.476T>A (p.Val159Glu) | |
19 | g.29702825C>A | CA9351886 | C19orf12 | c.313G>T (p.Val105Leu) n.704G>T c.121G>T (p.Val41Leu) c.346G>T (p.Val116Leu) c.290+23G>T (n.290+23G>T) c.475G>T (p.Val159Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.29702825C= | CA2330913560 | C19orf12 | c.313G= (p.Val105=) n.704G= c.121G= (p.Val41=) c.346G= (p.Val116=) c.290+23G= (n.290+23G=) c.475G= (p.Val159=) | |
19 | g.29702825C>G | CA405142780 | C19orf12 | c.313G>C (p.Val105Leu) n.704G>C c.121G>C (p.Val41Leu) c.346G>C (p.Val116Leu) c.290+23G>C (n.290+23G>C) c.475G>C (p.Val159Leu) | |
19 | g.29702825C>T | CA9351885 | C19orf12 | c.313G>A (p.Val105Met) n.704G>A c.121G>A (p.Val41Met) c.346G>A (p.Val116Met) c.290+23G>A (n.290+23G>A) c.475G>A (p.Val159Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.29702826G>A | CA9351887 | C19orf12 | c.312C>T (p.Ala104=) n.703C>T c.120C>T (p.Ala40=) c.345C>T (p.Ala115=) c.290+22C>T (n.290+22C>T) c.474C>T (p.Ala158=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.29702826G>C | CA506987018 | C19orf12 | c.312C>G (p.Ala104=) n.703C>G c.120C>G (p.Ala40=) c.345C>G (p.Ala115=) c.290+22C>G (n.290+22C>G) c.474C>G (p.Ala158=) | |
19 | g.29702826G= | CA2330913561 | C19orf12 | c.312C= (p.Ala104=) n.703C= c.120C= (p.Ala40=) c.345C= (p.Ala115=) c.290+22C= (n.290+22C=) c.474C= (p.Ala158=) | |
19 | g.29702826G>T | CA506987015 | C19orf12 | c.312C>A (p.Ala104=) n.703C>A c.120C>A (p.Ala40=) c.345C>A (p.Ala115=) c.290+22C>A (n.290+22C>A) c.474C>A (p.Ala158=) | |
19 | g.29702827G>A | CA405142785 | C19orf12 | c.311C>T (p.Ala104Val) n.702C>T c.119C>T (p.Ala40Val) c.344C>T (p.Ala115Val) c.290+21C>T (n.290+21C>T) c.473C>T (p.Ala158Val) | |
19 | g.29702827G>C | CA405142786 | C19orf12 | c.311C>G (p.Ala104Gly) n.702C>G c.119C>G (p.Ala40Gly) c.344C>G (p.Ala115Gly) c.290+21C>G (n.290+21C>G) c.473C>G (p.Ala158Gly) | |
19 | g.29702827G>T | CA405142788 | C19orf12 | c.311C>A (p.Ala104Asp) n.702C>A c.119C>A (p.Ala40Asp) c.344C>A (p.Ala115Asp) c.290+21C>A (n.290+21C>A) c.473C>A (p.Ala158Asp) | |
19 | g.29702828C>A | CA405142791 | C19orf12 | c.310G>T (p.Ala104Ser) n.701G>T c.118G>T (p.Ala40Ser) c.343G>T (p.Ala115Ser) c.290+20G>T (n.290+20G>T) c.472G>T (p.Ala158Ser) | |
19 | g.29702828C= | CA2330913562 | C19orf12 | c.310G= (p.Ala104=) n.701G= c.118G= (p.Ala40=) c.343G= (p.Ala115=) c.290+20G= (n.290+20G=) c.472G= (p.Ala158=) | |
19 | g.29702828C>G | CA405142793 | C19orf12 | c.310G>C (p.Ala104Pro) n.701G>C c.118G>C (p.Ala40Pro) c.343G>C (p.Ala115Pro) c.290+20G>C (n.290+20G>C) c.472G>C (p.Ala158Pro) | |
19 | g.29702828C>T | CA405142795 | C19orf12 | c.310G>A (p.Ala104Thr) n.701G>A c.118G>A (p.Ala40Thr) c.343G>A (p.Ala115Thr) c.290+20G>A (n.290+20G>A) c.472G>A (p.Ala158Thr) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.29702829G>A | CA9351888 | C19orf12 | c.309C>T (p.Asp103=) n.700C>T c.117C>T (p.Asp39=) c.342C>T (p.Asp114=) c.290+19C>T (n.290+19C>T) c.471C>T (p.Asp157=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.29702829G>C | CA405142799 | C19orf12 | c.309C>G (p.Asp103Glu) n.700C>G c.117C>G (p.Asp39Glu) c.342C>G (p.Asp114Glu) c.290+19C>G (n.290+19C>G) c.471C>G (p.Asp157Glu) | |
19 | g.29702829G= | CA2330913563 | C19orf12 | c.309C= (p.Asp103=) n.700C= c.117C= (p.Asp39=) c.342C= (p.Asp114=) c.290+19C= (n.290+19C=) c.471C= (p.Asp157=) | |
19 | g.29702829G>T | CA405142801 | C19orf12 | c.309C>A (p.Asp103Glu) n.700C>A c.117C>A (p.Asp39Glu) c.342C>A (p.Asp114Glu) c.290+19C>A (n.290+19C>A) c.471C>A (p.Asp157Glu) | |
19 | g.29702830T>A | CA405142805 | C19orf12 | c.308A>T (p.Asp103Val) n.699A>T c.116A>T (p.Asp39Val) c.341A>T (p.Asp114Val) c.290+18A>T (n.290+18A>T) c.470A>T (p.Asp157Val) | |
19 | g.29702830T>C | CA405142807 | C19orf12 | c.308A>G (p.Asp103Gly) n.699A>G c.116A>G (p.Asp39Gly) c.341A>G (p.Asp114Gly) c.290+18A>G (n.290+18A>G) c.470A>G (p.Asp157Gly) | |
19 | g.29702830T>G | CA405142809 | C19orf12 | c.308A>C (p.Asp103Ala) n.699A>C c.116A>C (p.Asp39Ala) c.341A>C (p.Asp114Ala) c.290+18A>C (n.290+18A>C) c.470A>C (p.Asp157Ala) | |
19 | g.29702831C>A | CA405142815 | C19orf12 | c.307G>T (p.Asp103Tyr) n.698G>T c.115G>T (p.Asp39Tyr) c.340G>T (p.Asp114Tyr) c.290+17G>T (n.290+17G>T) c.469G>T (p.Asp157Tyr) | |
19 | g.29702831C>G | CA405142818 | C19orf12 | c.307G>C (p.Asp103His) n.698G>C c.115G>C (p.Asp39His) c.340G>C (p.Asp114His) c.290+17G>C (n.290+17G>C) c.469G>C (p.Asp157His) | |
19 | g.29702831C>T | CA405142812 | C19orf12 | c.307G>A (p.Asp103Asn) n.698G>A c.115G>A (p.Asp39Asn) c.340G>A (p.Asp114Asn) c.290+17G>A (n.290+17G>A) c.469G>A (p.Asp157Asn) | |
19 | g.29702832C>A | CA506987051 | C19orf12 | c.306G>T (p.Thr102=) n.697G>T c.114G>T (p.Thr38=) c.339G>T (p.Thr113=) c.290+16G>T (n.290+16G>T) c.468G>T (p.Thr156=) | |
19 | g.29702832C= | CA2330913564 | C19orf12 | c.306G= (p.Thr102=) n.697G= c.114G= (p.Thr38=) c.339G= (p.Thr113=) c.290+16G= (n.290+16G=) c.468G= (p.Thr156=) | |
19 | g.29702832C>G | CA9351890 | C19orf12 | c.306G>C (p.Thr102=) n.697G>C c.114G>C (p.Thr38=) c.339G>C (p.Thr113=) c.290+16G>C (n.290+16G>C) c.468G>C (p.Thr156=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.29702832C>T | CA9351889 | C19orf12 | c.306G>A (p.Thr102=) n.697G>A c.114G>A (p.Thr38=) c.339G>A (p.Thr113=) c.290+16G>A (n.290+16G>A) c.468G>A (p.Thr156=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.29702833G>A | CA9351891 | C19orf12 | c.305C>T (p.Thr102Met) n.696C>T c.113C>T (p.Thr38Met) c.338C>T (p.Thr113Met) c.290+15C>T (n.290+15C>T) c.467C>T (p.Thr156Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.29702833G>C | CA405142823 | C19orf12 | c.305C>G (p.Thr102Arg) n.696C>G c.113C>G (p.Thr38Arg) c.338C>G (p.Thr113Arg) c.290+15C>G (n.290+15C>G) c.467C>G (p.Thr156Arg) | |
19 | g.29702833G= | CA2330913565 | C19orf12 | c.305C= (p.Thr102=) n.696C= c.113C= (p.Thr38=) c.338C= (p.Thr113=) c.290+15C= (n.290+15C=) c.467C= (p.Thr156=) | |
19 | g.29702833G>T | CA405142825 | C19orf12 | c.305C>A (p.Thr102Lys) n.696C>A c.113C>A (p.Thr38Lys) c.338C>A (p.Thr113Lys) c.290+15C>A (n.290+15C>A) c.467C>A (p.Thr156Lys) | |
19 | g.29702833_29702835delinsTGTG | CA2580060375 | C19orf12 | c.303_305delinsCACA (p.Trp101CysfsTer?) n.694_696delinsCACA c.111_113delinsCACA (p.Trp37CysfsTer?) c.336_338delinsCACA (p.Trp112CysfsTer?) c.290+13_290+15delinsCACA (n.290+13_290+15delinsCACA) c.465_467delinsCACA (p.Trp155CysfsTer?) | |
19 | g.29702834T>A | CA405142832 | C19orf12 | c.304A>T (p.Thr102Ser) n.695A>T c.112A>T (p.Thr38Ser) c.337A>T (p.Thr113Ser) c.290+14A>T (n.290+14A>T) c.466A>T (p.Thr156Ser) | ClinVar gnomAD v4 |
19 | g.29702834T>C | CA405142827 | C19orf12 | c.304A>G (p.Thr102Ala) n.695A>G c.112A>G (p.Thr38Ala) c.337A>G (p.Thr113Ala) c.290+14A>G (n.290+14A>G) c.466A>G (p.Thr156Ala) | |
19 | g.29702834T>G | CA405142829 | C19orf12 | c.304A>C (p.Thr102Pro) n.695A>C c.112A>C (p.Thr38Pro) c.337A>C (p.Thr113Pro) c.290+14A>C (n.290+14A>C) c.466A>C (p.Thr156Pro) | |
19 | g.29702835C>A | CA405142834 | C19orf12 | c.303G>T (p.Trp101Cys) n.694G>T c.111G>T (p.Trp37Cys) c.336G>T (p.Trp112Cys) c.290+13G>T (n.290+13G>T) c.465G>T (p.Trp155Cys) | |
19 | g.29702835C= | CA2330913566 | C19orf12 | c.303G= (p.Trp101=) n.694G= c.111G= (p.Trp37=) c.336G= (p.Trp112=) c.290+13G= (n.290+13G=) c.465G= (p.Trp155=) | |
19 | g.29702835C>G | CA405142836 | C19orf12 | c.303G>C (p.Trp101Cys) n.694G>C c.111G>C (p.Trp37Cys) c.336G>C (p.Trp112Cys) c.290+13G>C (n.290+13G>C) c.465G>C (p.Trp155Cys) | |
19 | g.29702835C>T | CA405142838 | C19orf12 | c.303G>A (p.Trp101Ter) n.694G>A c.111G>A (p.Trp37Ter) c.336G>A (p.Trp112Ter) c.290+13G>A (n.290+13G>A) c.465G>A (p.Trp155Ter) | ClinVar dbSNP |
19 | g.29702836C>A | CA405142841 | C19orf12 | c.302G>T (p.Trp101Leu) n.693G>T c.110G>T (p.Trp37Leu) c.335G>T (p.Trp112Leu) c.290+12G>T (n.290+12G>T) c.464G>T (p.Trp155Leu) | |
19 | g.29702836C>G | CA405142842 | C19orf12 | c.302G>C (p.Trp101Ser) n.693G>C c.110G>C (p.Trp37Ser) c.335G>C (p.Trp112Ser) c.290+12G>C (n.290+12G>C) c.464G>C (p.Trp155Ser) | |
19 | g.29702836C>T | CA405142844 | C19orf12 | c.302G>A (p.Trp101Ter) n.693G>A c.110G>A (p.Trp37Ter) c.335G>A (p.Trp112Ter) c.290+12G>A (n.290+12G>A) c.464G>A (p.Trp155Ter) | |
19 | g.29702837A>C | CA405142848 | C19orf12 | c.301T>G (p.Trp101Gly) n.692T>G c.109T>G (p.Trp37Gly) c.334T>G (p.Trp112Gly) c.290+11T>G (n.290+11T>G) c.463T>G (p.Trp155Gly) | |
19 | g.29702837A>G | CA405142850 | C19orf12 | c.301T>C (p.Trp101Arg) n.692T>C c.109T>C (p.Trp37Arg) c.334T>C (p.Trp112Arg) c.290+11T>C (n.290+11T>C) c.463T>C (p.Trp155Arg) | |
19 | g.29702837A>T | CA405142847 | C19orf12 | c.301T>A (p.Trp101Arg) n.692T>A c.109T>A (p.Trp37Arg) c.334T>A (p.Trp112Arg) c.290+11T>A (n.290+11T>A) c.463T>A (p.Trp155Arg) | |
19 | g.29702838C>A | CA405142853 | C19orf12 | c.300G>T (p.Glu100Asp) n.691G>T c.108G>T (p.Glu36Asp) c.333G>T (p.Glu111Asp) c.290+10G>T (n.290+10G>T) c.462G>T (p.Glu154Asp) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.29702838C= | CA2330913567 | C19orf12 | c.300G= (p.Glu100=) n.691G= c.108G= (p.Glu36=) c.333G= (p.Glu111=) c.290+10G= (n.290+10G=) c.462G= (p.Glu154=) | |
19 | g.29702838C>G | CA405142855 | C19orf12 | c.300G>C (p.Glu100Asp) n.691G>C c.108G>C (p.Glu36Asp) c.333G>C (p.Glu111Asp) c.290+10G>C (n.290+10G>C) c.462G>C (p.Glu154Asp) | dbSNP |
19 | g.29702838C>T | CA506987668 | C19orf12 | c.300G>A (p.Glu100=) n.691G>A c.108G>A (p.Glu36=) c.333G>A (p.Glu111=) c.290+10G>A (n.290+10G>A) c.462G>A (p.Glu154=) | dbSNP |
19 | g.29702839T>A | CA405142858 | C19orf12 | c.299A>T (p.Glu100Val) n.690A>T c.107A>T (p.Glu36Val) c.332A>T (p.Glu111Val) c.290+9A>T (n.290+9A>T) c.461A>T (p.Glu154Val) | |
19 | g.29702839T>C | CA405142860 | C19orf12 | c.299A>G (p.Glu100Gly) n.690A>G c.107A>G (p.Glu36Gly) c.332A>G (p.Glu111Gly) c.290+9A>G (n.290+9A>G) c.461A>G (p.Glu154Gly) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.29702839T>G | CA405142861 | C19orf12 | c.299A>C (p.Glu100Ala) n.690A>C c.107A>C (p.Glu36Ala) c.332A>C (p.Glu111Ala) c.290+9A>C (n.290+9A>C) c.461A>C (p.Glu154Ala) | |
19 | g.29702839T= | CA2330913568 | C19orf12 | c.299A= (p.Glu100=) n.690A= c.107A= (p.Glu36=) c.332A= (p.Glu111=) c.290+9A= (n.290+9A=) c.461A= (p.Glu154=) | |
19 | g.29702840C>A | CA405142863 | C19orf12 | c.298G>T (p.Glu100Ter) n.689G>T c.106G>T (p.Glu36Ter) c.331G>T (p.Glu111Ter) c.290+8G>T (n.290+8G>T) c.460G>T (p.Glu154Ter) | |
19 | g.29702840C= | CA2330913569 | C19orf12 | c.298G= (p.Glu100=) n.689G= c.106G= (p.Glu36=) c.331G= (p.Glu111=) c.290+8G= (n.290+8G=) c.460G= (p.Glu154=) | |
19 | g.29702840C>G | CA405142865 | C19orf12 | c.298G>C (p.Glu100Gln) n.689G>C c.106G>C (p.Glu36Gln) c.331G>C (p.Glu111Gln) c.290+8G>C (n.290+8G>C) c.460G>C (p.Glu154Gln) | |
19 | g.29702840C>T | CA306785293 | C19orf12 | c.298G>A (p.Glu100Lys) n.689G>A c.106G>A (p.Glu36Lys) c.331G>A (p.Glu111Lys) c.290+8G>A (n.290+8G>A) c.460G>A (p.Glu154Lys) | dbSNP gnomAD v4 |
19 | g.29702841C>A | CA506987681 | C19orf12 | c.297G>T (p.Leu99=) n.688G>T c.105G>T (p.Leu35=) c.330G>T (p.Leu110=) c.290+7G>T (n.290+7G>T) c.459G>T (p.Leu153=) | |
19 | g.29702841C>G | CA506987683 | C19orf12 | c.297G>C (p.Leu99=) n.688G>C c.105G>C (p.Leu35=) c.330G>C (p.Leu110=) c.290+7G>C (n.290+7G>C) c.459G>C (p.Leu153=) | |
19 | g.29702841C>T | CA506987685 | C19orf12 | c.297G>A (p.Leu99=) n.688G>A c.105G>A (p.Leu35=) c.330G>A (p.Leu110=) c.290+7G>A (n.290+7G>A) c.459G>A (p.Leu153=) | |
19 | g.29702842A= | CA2330913570 | C19orf12 | c.296T= (p.Leu99=) c.*210T= (n.*210T=) n.687T= c.104T= (p.Leu35=) c.329T= (p.Leu110=) c.290+6T= (n.290+6T=) c.458T= (p.Leu153=) | |
19 | g.29702842A>C | CA405142870 | C19orf12 | c.296T>G (p.Leu99Arg) c.*210T>G (n.*210T>G) n.687T>G c.104T>G (p.Leu35Arg) c.329T>G (p.Leu110Arg) c.290+6T>G (n.290+6T>G) c.458T>G (p.Leu153Arg) | |
19 | g.29702842A>G | CA405142874 | C19orf12 | c.296T>C (p.Leu99Pro) c.*210T>C (n.*210T>C) n.687T>C c.104T>C (p.Leu35Pro) c.329T>C (p.Leu110Pro) c.290+6T>C (n.290+6T>C) c.458T>C (p.Leu153Pro) | |
19 | g.29702842A>T | CA405142871 | C19orf12 | c.296T>A (p.Leu99Gln) c.*210T>A (n.*210T>A) n.687T>A c.104T>A (p.Leu35Gln) c.329T>A (p.Leu110Gln) c.290+6T>A (n.290+6T>A) c.458T>A (p.Leu153Gln) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.29702843G>A | CA506987695 | C19orf12 | c.295C>T (p.Leu99=) c.*209C>T (n.*209C>T) n.686C>T c.103C>T (p.Leu35=) c.328C>T (p.Leu110=) c.290+5C>T (n.290+5C>T) c.457C>T (p.Leu153=) | |
19 | g.29702843G>C | CA405142876 | C19orf12 | c.295C>G (p.Leu99Val) c.*209C>G (n.*209C>G) n.686C>G c.103C>G (p.Leu35Val) c.328C>G (p.Leu110Val) c.290+5C>G (n.290+5C>G) c.457C>G (p.Leu153Val) | |
19 | g.29702843G>T | CA405142878 | C19orf12 | c.295C>A (p.Leu99Met) c.*209C>A (n.*209C>A) n.686C>A c.103C>A (p.Leu35Met) c.328C>A (p.Leu110Met) c.290+5C>A (n.290+5C>A) c.457C>A (p.Leu153Met) | |
19 | g.29702844G>A | CA506987702 | C19orf12 | c.294C>T (p.His98=) c.*208C>T (n.*208C>T) n.685C>T c.102C>T (p.His34=) c.327C>T (p.His109=) c.290+4C>T (n.290+4C>T) c.456C>T (p.His152=) | gnomAD v4 |
19 | g.29702844G>C | CA405142879 | C19orf12 | c.294C>G (p.His98Gln) c.*208C>G (n.*208C>G) n.685C>G c.102C>G (p.His34Gln) c.327C>G (p.His109Gln) c.290+4C>G (n.290+4C>G) c.456C>G (p.His152Gln) | ClinVar dbSNP |
19 | g.29702844G>T | CA405142881 | C19orf12 | c.294C>A (p.His98Gln) c.*208C>A (n.*208C>A) n.685C>A c.102C>A (p.His34Gln) c.327C>A (p.His109Gln) c.290+4C>A (n.290+4C>A) c.456C>A (p.His152Gln) | gnomAD v4 |
19 | g.29702845T>A | CA405142884 | C19orf12 | c.293A>T (p.His98Leu) c.*207A>T (n.*207A>T) n.684A>T c.101A>T (p.His34Leu) c.326A>T (p.His109Leu) c.290+3A>T (n.290+3A>T) c.455A>T (p.His152Leu) | |
19 | g.29702845T>C | CA405142888 | C19orf12 | c.293A>G (p.His98Arg) c.*207A>G (n.*207A>G) n.684A>G c.101A>G (p.His34Arg) c.326A>G (p.His109Arg) c.290+3A>G (n.290+3A>G) c.455A>G (p.His152Arg) | |
19 | g.29702845T>G | CA405142885 | C19orf12 | c.293A>C (p.His98Pro) c.*207A>C (n.*207A>C) n.684A>C c.101A>C (p.His34Pro) c.326A>C (p.His109Pro) c.290+3A>C (n.290+3A>C) c.455A>C (p.His152Pro) | |
19 | g.29702846G>A | CA405142890 | C19orf12 | c.292C>T (p.His98Tyr) c.*206C>T (n.*206C>T) n.683C>T c.100C>T (p.His34Tyr) c.325C>T (p.His109Tyr) c.290+2C>T (n.290+2C>T) c.454C>T (p.His152Tyr) | |
19 | g.29702846G>C | CA405142892 | C19orf12 | c.292C>G (p.His98Asp) c.*206C>G (n.*206C>G) n.683C>G c.100C>G (p.His34Asp) c.325C>G (p.His109Asp) c.290+2C>G (n.290+2C>G) c.454C>G (p.His152Asp) | |
19 | g.29702846G= | CA2330913571 | C19orf12 | c.292C= (p.His98=) c.*206C= (n.*206C=) n.683C= c.100C= (p.His34=) c.325C= (p.His109=) c.290+2C= (n.290+2C=) c.454C= (p.His152=) | |
19 | g.29702846G>T | CA405142895 | C19orf12 | c.292C>A (p.His98Asn) c.*206C>A (n.*206C>A) n.683C>A c.100C>A (p.His34Asn) c.325C>A (p.His109Asn) c.290+2C>A (n.290+2C>A) c.454C>A (p.His152Asn) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.29702847C>A | CA405142901 | C19orf12 | c.291G>T (p.Arg97Ser) c.*205G>T (n.*205G>T) n.682G>T c.99G>T (p.Arg33Ser) c.324G>T (p.Arg108Ser) c.290+1G>T (n.290+1G>T) c.453G>T (p.Arg151Ser) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.29702847C= | CA2330913572 | C19orf12 | c.291G= (p.Arg97=) c.*205G= (n.*205G=) n.682G= c.99G= (p.Arg33=) c.324G= (p.Arg108=) c.290+1G= (n.290+1G=) c.453G= (p.Arg151=) | |
19 | g.29702847C>G | CA405142903 | C19orf12 | c.291G>C (p.Arg97Ser) c.*205G>C (n.*205G>C) n.682G>C c.99G>C (p.Arg33Ser) c.324G>C (p.Arg108Ser) c.290+1G>C (n.290+1G>C) c.453G>C (p.Arg151Ser) | |
19 | g.29702847C>T | CA405142904 | C19orf12 | c.291G>A (p.Arg97=) c.*205G>A (n.*205G>A) n.682G>A c.99G>A (p.Arg33=) c.324G>A (p.Arg108=) c.290+1G>A (n.290+1G>A) c.453G>A (p.Arg151=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.29702848C>A | CA405142907 | C19orf12 | c.290G>T (p.Arg97Met) c.*204G>T (n.*204G>T) n.681G>T c.98G>T (p.Arg33Met) c.323G>T (p.Arg108Met) c.452G>T (p.Arg151Met) | |
19 | g.29702848C= | CA2330913573 | C19orf12 | c.290G= (p.Arg97=) c.*204G= (n.*204G=) n.681G= c.98G= (p.Arg33=) c.323G= (p.Arg108=) c.452G= (p.Arg151=) | |
19 | g.29702848C>G | CA405142908 | C19orf12 | c.290G>C (p.Arg97Thr) c.*204G>C (n.*204G>C) n.681G>C c.98G>C (p.Arg33Thr) c.323G>C (p.Arg108Thr) c.452G>C (p.Arg151Thr) | |
19 | g.29702848C>T | CA9351892 | C19orf12 | c.290G>A (p.Arg97Lys) c.*204G>A (n.*204G>A) n.681G>A c.98G>A (p.Arg33Lys) c.323G>A (p.Arg108Lys) c.452G>A (p.Arg151Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.29702849T>A | CA405142911 | C19orf12 | c.289A>T (p.Arg97Trp) c.*203A>T (n.*203A>T) n.680A>T c.97A>T (p.Arg33Trp) c.322A>T (p.Arg108Trp) c.451A>T (p.Arg151Trp) | |
19 | g.29702849T>C | CA306785304 | C19orf12 | c.289A>G (p.Arg97Gly) c.*203A>G (n.*203A>G) n.680A>G c.97A>G (p.Arg33Gly) c.322A>G (p.Arg108Gly) c.451A>G (p.Arg151Gly) | dbSNP |
19 | g.29702849T>G | CA506987733 | C19orf12 | c.289A>C (p.Arg97=) c.*203A>C (n.*203A>C) n.680A>C c.97A>C (p.Arg33=) c.322A>C (p.Arg108=) c.451A>C (p.Arg151=) | |
19 | g.29702849T= | CA2330913574 | C19orf12 | c.289A= (p.Arg97=) c.*203A= (n.*203A=) n.680A= c.97A= (p.Arg33=) c.322A= (p.Arg108=) c.451A= (p.Arg151=) | |
19 | g.29702850G>A | CA506987736 | C19orf12 | c.288C>T (p.Ile96=) c.*202C>T (n.*202C>T) n.679C>T c.96C>T (p.Ile32=) c.321C>T (p.Ile107=) c.450C>T (p.Ile150=) | |
19 | g.29702850G>C | CA405142914 | C19orf12 | c.288C>G (p.Ile96Met) c.*202C>G (n.*202C>G) n.679C>G c.96C>G (p.Ile32Met) c.321C>G (p.Ile107Met) c.450C>G (p.Ile150Met) | |
19 | g.29702850G>T | CA506987741 | C19orf12 | c.288C>A (p.Ile96=) c.*202C>A (n.*202C>A) n.679C>A c.96C>A (p.Ile32=) c.321C>A (p.Ile107=) c.450C>A (p.Ile150=) | |
19 | g.29702851A>C | CA405142915 | C19orf12 | c.287T>G (p.Ile96Ser) c.*201T>G (n.*201T>G) n.678T>G c.95T>G (p.Ile32Ser) c.320T>G (p.Ile107Ser) c.449T>G (p.Ile150Ser) | gnomAD v4 |
19 | g.29702851A>G | CA405142919 | C19orf12 | c.287T>C (p.Ile96Thr) c.*201T>C (n.*201T>C) n.678T>C c.95T>C (p.Ile32Thr) c.320T>C (p.Ile107Thr) c.449T>C (p.Ile150Thr) | |
19 | g.29702851A>T | CA405142917 | C19orf12 | c.287T>A (p.Ile96Asn) c.*201T>A (n.*201T>A) n.678T>A c.95T>A (p.Ile32Asn) c.320T>A (p.Ile107Asn) c.449T>A (p.Ile150Asn) | |
19 | g.29702852T>A | CA405142921 | C19orf12 | c.286A>T (p.Ile96Phe) c.*200A>T (n.*200A>T) n.677A>T c.94A>T (p.Ile32Phe) c.319A>T (p.Ile107Phe) c.448A>T (p.Ile150Phe) | gnomAD v4 |
19 | g.29702852T>C | CA405142923 | C19orf12 | c.286A>G (p.Ile96Val) c.*200A>G (n.*200A>G) n.677A>G c.94A>G (p.Ile32Val) c.319A>G (p.Ile107Val) c.448A>G (p.Ile150Val) | ClinVar gnomAD v4 |
19 | g.29702852T>G | CA405142925 | C19orf12 | c.286A>C (p.Ile96Leu) c.*200A>C (n.*200A>C) n.677A>C c.94A>C (p.Ile32Leu) c.319A>C (p.Ile107Leu) c.448A>C (p.Ile150Leu) | dbSNP |
19 | g.29702852T= | CA2330913575 | C19orf12 | c.286A= (p.Ile96=) c.*200A= (n.*200A=) n.677A= c.94A= (p.Ile32=) c.319A= (p.Ile107=) c.448A= (p.Ile150=) | |
19 | g.29702853G>A | CA506987755 | C19orf12 | c.285C>T (p.Ile95=) c.*199C>T (n.*199C>T) n.676C>T c.93C>T (p.Ile31=) c.318C>T (p.Ile106=) c.447C>T (p.Ile149=) | |
19 | g.29702853G>C | CA9351893 | C19orf12 | c.285C>G (p.Ile95Met) c.*199C>G (n.*199C>G) n.676C>G c.93C>G (p.Ile31Met) c.318C>G (p.Ile106Met) c.447C>G (p.Ile149Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.29702853G= | CA2330913576 | C19orf12 | c.285C= (p.Ile95=) c.*199C= (n.*199C=) n.676C= c.93C= (p.Ile31=) c.318C= (p.Ile106=) c.447C= (p.Ile149=) | |
19 | g.29702853G>T | CA506987759 | C19orf12 | c.285C>A (p.Ile95=) c.*199C>A (n.*199C>A) n.676C>A c.93C>A (p.Ile31=) c.318C>A (p.Ile106=) c.447C>A (p.Ile149=) |