Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.74893208C>A | CA393174457 | MPI | c.558C>A (p.Asp186Glu) c.487+406C>A (n.487+406C>A) c.408C>A (p.Asp136Glu) c.*454C>A (n.*454C>A) c.498C>A (p.Asp166Glu) c.255+1719C>A (n.255+1719C>A) c.337+406C>A (n.337+406C>A) c.516C>A (p.Asp172Glu) c.448+406C>A (n.448+406C>A) c.522C>A (p.Asp174Glu) c.468C>A (p.Asp156Glu) c.546C>A (p.Asp182Glu) | gnomAD v4 |
15 | g.74893208C>G | CA393174459 | MPI | c.558C>G (p.Asp186Glu) c.487+406C>G (n.487+406C>G) c.408C>G (p.Asp136Glu) c.*454C>G (n.*454C>G) c.498C>G (p.Asp166Glu) c.255+1719C>G (n.255+1719C>G) c.337+406C>G (n.337+406C>G) c.516C>G (p.Asp172Glu) c.448+406C>G (n.448+406C>G) c.522C>G (p.Asp174Glu) c.468C>G (p.Asp156Glu) c.546C>G (p.Asp182Glu) | |
15 | g.74893208C>T | CA491491292 | MPI | c.558C>T (p.Asp186=) c.487+406C>T (n.487+406C>T) c.408C>T (p.Asp136=) c.*454C>T (n.*454C>T) c.498C>T (p.Asp166=) c.255+1719C>T (n.255+1719C>T) c.337+406C>T (n.337+406C>T) c.516C>T (p.Asp172=) c.448+406C>T (n.448+406C>T) c.522C>T (p.Asp174=) c.468C>T (p.Asp156=) c.546C>T (p.Asp182=) | |
15 | g.74893209T>A | CA393174462 | MPI | c.559T>A (p.Ser187Thr) c.487+407T>A (n.487+407T>A) c.409T>A (p.Ser137Thr) c.*455T>A (n.*455T>A) c.499T>A (p.Ser167Thr) c.255+1720T>A (n.255+1720T>A) c.337+407T>A (n.337+407T>A) c.517T>A (p.Ser173Thr) c.448+407T>A (n.448+407T>A) c.523T>A (p.Ser175Thr) c.469T>A (p.Ser157Thr) c.547T>A (p.Ser183Thr) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.74893209T>C | CA393174465 | MPI | c.559T>C (p.Ser187Pro) c.487+407T>C (n.487+407T>C) c.409T>C (p.Ser137Pro) c.*455T>C (n.*455T>C) c.499T>C (p.Ser167Pro) c.255+1720T>C (n.255+1720T>C) c.337+407T>C (n.337+407T>C) c.517T>C (p.Ser173Pro) c.448+407T>C (n.448+407T>C) c.523T>C (p.Ser175Pro) c.469T>C (p.Ser157Pro) c.547T>C (p.Ser183Pro) | |
15 | g.74893209T>G | CA393174468 | MPI | c.559T>G (p.Ser187Ala) c.487+407T>G (n.487+407T>G) c.409T>G (p.Ser137Ala) c.*455T>G (n.*455T>G) c.499T>G (p.Ser167Ala) c.255+1720T>G (n.255+1720T>G) c.337+407T>G (n.337+407T>G) c.517T>G (p.Ser173Ala) c.448+407T>G (n.448+407T>G) c.523T>G (p.Ser175Ala) c.469T>G (p.Ser157Ala) c.547T>G (p.Ser183Ala) | |
15 | g.74893209T= | CA2187897273 | MPI | c.559T= (p.Ser187=) c.487+407T= (n.487+407T=) c.409T= (p.Ser137=) c.*455T= (n.*455T=) c.499T= (p.Ser167=) c.255+1720T= (n.255+1720T=) c.337+407T= (n.337+407T=) c.517T= (p.Ser173=) c.448+407T= (n.448+407T=) c.523T= (p.Ser175=) c.469T= (p.Ser157=) c.547T= (p.Ser183=) | |
15 | g.74893210C>A | CA393174471 | MPI | c.560C>A (p.Ser187Tyr) c.487+408C>A (n.487+408C>A) c.410C>A (p.Ser137Tyr) c.*456C>A (n.*456C>A) c.500C>A (p.Ser167Tyr) c.255+1721C>A (n.255+1721C>A) c.337+408C>A (n.337+408C>A) c.518C>A (p.Ser173Tyr) c.448+408C>A (n.448+408C>A) c.524C>A (p.Ser175Tyr) c.470C>A (p.Ser157Tyr) c.548C>A (p.Ser183Tyr) | |
15 | g.74893210C= | CA2187897275 | MPI | c.560C= (p.Ser187=) c.487+408C= (n.487+408C=) c.410C= (p.Ser137=) c.*456C= (n.*456C=) c.500C= (p.Ser167=) c.255+1721C= (n.255+1721C=) c.337+408C= (n.337+408C=) c.518C= (p.Ser173=) c.448+408C= (n.448+408C=) c.524C= (p.Ser175=) c.470C= (p.Ser157=) c.548C= (p.Ser183=) | |
15 | g.74893210C>G | CA393174473 | MPI | c.560C>G (p.Ser187Cys) c.487+408C>G (n.487+408C>G) c.410C>G (p.Ser137Cys) c.*456C>G (n.*456C>G) c.500C>G (p.Ser167Cys) c.255+1721C>G (n.255+1721C>G) c.337+408C>G (n.337+408C>G) c.518C>G (p.Ser173Cys) c.448+408C>G (n.448+408C>G) c.524C>G (p.Ser175Cys) c.470C>G (p.Ser157Cys) c.548C>G (p.Ser183Cys) | |
15 | g.74893210C>T | CA272823551 | MPI | c.560C>T (p.Ser187Phe) c.487+408C>T (n.487+408C>T) c.410C>T (p.Ser137Phe) c.*456C>T (n.*456C>T) c.500C>T (p.Ser167Phe) c.255+1721C>T (n.255+1721C>T) c.337+408C>T (n.337+408C>T) c.518C>T (p.Ser173Phe) c.448+408C>T (n.448+408C>T) c.524C>T (p.Ser175Phe) c.470C>T (p.Ser157Phe) c.548C>T (p.Ser183Phe) | dbSNP gnomAD v4 |
15 | g.74893211C>A | CA491491293 | MPI | c.561C>A (p.Ser187=) c.487+409C>A (n.487+409C>A) c.411C>A (p.Ser137=) c.*457C>A (n.*457C>A) c.501C>A (p.Ser167=) c.255+1722C>A (n.255+1722C>A) c.337+409C>A (n.337+409C>A) c.519C>A (p.Ser173=) c.448+409C>A (n.448+409C>A) c.525C>A (p.Ser175=) c.471C>A (p.Ser157=) c.549C>A (p.Ser183=) | |
15 | g.74893211C>G | CA491491294 | MPI | c.561C>G (p.Ser187=) c.487+409C>G (n.487+409C>G) c.411C>G (p.Ser137=) c.*457C>G (n.*457C>G) c.501C>G (p.Ser167=) c.255+1722C>G (n.255+1722C>G) c.337+409C>G (n.337+409C>G) c.519C>G (p.Ser173=) c.448+409C>G (n.448+409C>G) c.525C>G (p.Ser175=) c.471C>G (p.Ser157=) c.549C>G (p.Ser183=) | |
15 | g.74893211C>T | CA491491295 | MPI | c.561C>T (p.Ser187=) c.487+409C>T (n.487+409C>T) c.411C>T (p.Ser137=) c.*457C>T (n.*457C>T) c.501C>T (p.Ser167=) c.255+1722C>T (n.255+1722C>T) c.337+409C>T (n.337+409C>T) c.519C>T (p.Ser173=) c.448+409C>T (n.448+409C>T) c.525C>T (p.Ser175=) c.471C>T (p.Ser157=) c.549C>T (p.Ser183=) | |
15 | g.74893212C>A | CA393174478 | MPI | c.562C>A (p.Gln188Lys) c.487+410C>A (n.487+410C>A) c.412C>A (p.Gln138Lys) c.*458C>A (n.*458C>A) c.502C>A (p.Gln168Lys) c.255+1723C>A (n.255+1723C>A) c.337+410C>A (n.337+410C>A) c.520C>A (p.Gln174Lys) c.448+410C>A (n.448+410C>A) c.526C>A (p.Gln176Lys) c.472C>A (p.Gln158Lys) c.550C>A (p.Gln184Lys) | |
15 | g.74893212C>G | CA393174484 | MPI | c.562C>G (p.Gln188Glu) c.487+410C>G (n.487+410C>G) c.412C>G (p.Gln138Glu) c.*458C>G (n.*458C>G) c.502C>G (p.Gln168Glu) c.255+1723C>G (n.255+1723C>G) c.337+410C>G (n.337+410C>G) c.520C>G (p.Gln174Glu) c.448+410C>G (n.448+410C>G) c.526C>G (p.Gln176Glu) c.472C>G (p.Gln158Glu) c.550C>G (p.Gln184Glu) | |
15 | g.74893212C>T | CA393174481 | MPI | c.562C>T (p.Gln188Ter) c.487+410C>T (n.487+410C>T) c.412C>T (p.Gln138Ter) c.*458C>T (n.*458C>T) c.502C>T (p.Gln168Ter) c.255+1723C>T (n.255+1723C>T) c.337+410C>T (n.337+410C>T) c.520C>T (p.Gln174Ter) c.448+410C>T (n.448+410C>T) c.526C>T (p.Gln176Ter) c.472C>T (p.Gln158Ter) c.550C>T (p.Gln184Ter) | |
15 | g.74893213A= | CA2187897279 | MPI | c.563A= (p.Gln188=) c.487+411A= (n.487+411A=) c.413A= (p.Gln138=) c.*459A= (n.*459A=) c.503A= (p.Gln168=) c.255+1724A= (n.255+1724A=) c.337+411A= (n.337+411A=) c.521A= (p.Gln174=) c.448+411A= (n.448+411A=) c.527A= (p.Gln176=) c.473A= (p.Gln158=) c.551A= (p.Gln184=) | |
15 | g.74893213A>C | CA393174487 | MPI | c.563A>C (p.Gln188Pro) c.487+411A>C (n.487+411A>C) c.413A>C (p.Gln138Pro) c.*459A>C (n.*459A>C) c.503A>C (p.Gln168Pro) c.255+1724A>C (n.255+1724A>C) c.337+411A>C (n.337+411A>C) c.521A>C (p.Gln174Pro) c.448+411A>C (n.448+411A>C) c.527A>C (p.Gln176Pro) c.473A>C (p.Gln158Pro) c.551A>C (p.Gln184Pro) | |
15 | g.74893213A>G | CA7662463 | MPI | c.563A>G (p.Gln188Arg) c.487+411A>G (n.487+411A>G) c.413A>G (p.Gln138Arg) c.*459A>G (n.*459A>G) c.503A>G (p.Gln168Arg) c.255+1724A>G (n.255+1724A>G) c.337+411A>G (n.337+411A>G) c.521A>G (p.Gln174Arg) c.448+411A>G (n.448+411A>G) c.527A>G (p.Gln176Arg) c.473A>G (p.Gln158Arg) c.551A>G (p.Gln184Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.74893213A>T | CA393174489 | MPI | c.563A>T (p.Gln188Leu) c.487+411A>T (n.487+411A>T) c.413A>T (p.Gln138Leu) c.*459A>T (n.*459A>T) c.503A>T (p.Gln168Leu) c.255+1724A>T (n.255+1724A>T) c.337+411A>T (n.337+411A>T) c.521A>T (p.Gln174Leu) c.448+411A>T (n.448+411A>T) c.527A>T (p.Gln176Leu) c.473A>T (p.Gln158Leu) c.551A>T (p.Gln184Leu) | |
15 | g.74893214G>A | CA491491296 | MPI | c.564G>A (p.Gln188=) c.487+412G>A (n.487+412G>A) c.414G>A (p.Gln138=) c.*460G>A (n.*460G>A) c.504G>A (p.Gln168=) c.255+1725G>A (n.255+1725G>A) c.337+412G>A (n.337+412G>A) c.522G>A (p.Gln174=) c.448+412G>A (n.448+412G>A) c.528G>A (p.Gln176=) c.474G>A (p.Gln158=) c.552G>A (p.Gln184=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.74893214G>C | CA393174490 | MPI | c.564G>C (p.Gln188His) c.487+412G>C (n.487+412G>C) c.414G>C (p.Gln138His) c.*460G>C (n.*460G>C) c.504G>C (p.Gln168His) c.255+1725G>C (n.255+1725G>C) c.337+412G>C (n.337+412G>C) c.522G>C (p.Gln174His) c.448+412G>C (n.448+412G>C) c.528G>C (p.Gln176His) c.474G>C (p.Gln158His) c.552G>C (p.Gln184His) | |
15 | g.74893214G= | CA2187897280 | MPI | c.564G= (p.Gln188=) c.487+412G= (n.487+412G=) c.414G= (p.Gln138=) c.*460G= (n.*460G=) c.504G= (p.Gln168=) c.255+1725G= (n.255+1725G=) c.337+412G= (n.337+412G=) c.522G= (p.Gln174=) c.448+412G= (n.448+412G=) c.528G= (p.Gln176=) c.474G= (p.Gln158=) c.552G= (p.Gln184=) | |
15 | g.74893214G>T | CA393174491 | MPI | c.564G>T (p.Gln188His) c.487+412G>T (n.487+412G>T) c.414G>T (p.Gln138His) c.*460G>T (n.*460G>T) c.504G>T (p.Gln168His) c.255+1725G>T (n.255+1725G>T) c.337+412G>T (n.337+412G>T) c.522G>T (p.Gln174His) c.448+412G>T (n.448+412G>T) c.528G>T (p.Gln176His) c.474G>T (p.Gln158His) c.552G>T (p.Gln184His) | |
15 | g.74893215G>A | CA393174495 | MPI | c.565G>A (p.Ala189Thr) c.487+413G>A (n.487+413G>A) c.415G>A (p.Ala139Thr) c.*461G>A (n.*461G>A) c.505G>A (p.Ala169Thr) c.255+1726G>A (n.255+1726G>A) c.337+413G>A (n.337+413G>A) c.523G>A (p.Ala175Thr) c.448+413G>A (n.448+413G>A) c.529G>A (p.Ala177Thr) c.475G>A (p.Ala159Thr) c.553G>A (p.Ala185Thr) | |
15 | g.74893215G>C | CA393174498 | MPI | c.565G>C (p.Ala189Pro) c.487+413G>C (n.487+413G>C) c.415G>C (p.Ala139Pro) c.*461G>C (n.*461G>C) c.505G>C (p.Ala169Pro) c.255+1726G>C (n.255+1726G>C) c.337+413G>C (n.337+413G>C) c.523G>C (p.Ala175Pro) c.448+413G>C (n.448+413G>C) c.529G>C (p.Ala177Pro) c.475G>C (p.Ala159Pro) c.553G>C (p.Ala185Pro) | |
15 | g.74893215G>T | CA393174497 | MPI | c.565G>T (p.Ala189Ser) c.487+413G>T (n.487+413G>T) c.415G>T (p.Ala139Ser) c.*461G>T (n.*461G>T) c.505G>T (p.Ala169Ser) c.255+1726G>T (n.255+1726G>T) c.337+413G>T (n.337+413G>T) c.523G>T (p.Ala175Ser) c.448+413G>T (n.448+413G>T) c.529G>T (p.Ala177Ser) c.475G>T (p.Ala159Ser) c.553G>T (p.Ala185Ser) | |
15 | g.74893216C>A | CA393174499 | MPI | c.566C>A (p.Ala189Asp) c.487+414C>A (n.487+414C>A) c.416C>A (p.Ala139Asp) c.*462C>A (n.*462C>A) c.506C>A (p.Ala169Asp) c.255+1727C>A (n.255+1727C>A) c.337+414C>A (n.337+414C>A) c.524C>A (p.Ala175Asp) c.448+414C>A (n.448+414C>A) c.530C>A (p.Ala177Asp) c.476C>A (p.Ala159Asp) c.554C>A (p.Ala185Asp) | |
15 | g.74893216C>G | CA393174501 | MPI | c.566C>G (p.Ala189Gly) c.487+414C>G (n.487+414C>G) c.416C>G (p.Ala139Gly) c.*462C>G (n.*462C>G) c.506C>G (p.Ala169Gly) c.255+1727C>G (n.255+1727C>G) c.337+414C>G (n.337+414C>G) c.524C>G (p.Ala175Gly) c.448+414C>G (n.448+414C>G) c.530C>G (p.Ala177Gly) c.476C>G (p.Ala159Gly) c.554C>G (p.Ala185Gly) | |
15 | g.74893216C>T | CA393174503 | MPI | c.566C>T (p.Ala189Val) c.487+414C>T (n.487+414C>T) c.416C>T (p.Ala139Val) c.*462C>T (n.*462C>T) c.506C>T (p.Ala169Val) c.255+1727C>T (n.255+1727C>T) c.337+414C>T (n.337+414C>T) c.524C>T (p.Ala175Val) c.448+414C>T (n.448+414C>T) c.530C>T (p.Ala177Val) c.476C>T (p.Ala159Val) c.554C>T (p.Ala185Val) | |
15 | g.74893217T>A | CA491491299 | MPI | c.567T>A (p.Ala189=) c.487+415T>A (n.487+415T>A) c.417T>A (p.Ala139=) c.*463T>A (n.*463T>A) c.507T>A (p.Ala169=) c.255+1728T>A (n.255+1728T>A) c.337+415T>A (n.337+415T>A) c.525T>A (p.Ala175=) c.448+415T>A (n.448+415T>A) c.531T>A (p.Ala177=) c.477T>A (p.Ala159=) c.555T>A (p.Ala185=) | |
15 | g.74893217T>C | CA491491298 | MPI | c.567T>C (p.Ala189=) c.487+415T>C (n.487+415T>C) c.417T>C (p.Ala139=) c.*463T>C (n.*463T>C) c.507T>C (p.Ala169=) c.255+1728T>C (n.255+1728T>C) c.337+415T>C (n.337+415T>C) c.525T>C (p.Ala175=) c.448+415T>C (n.448+415T>C) c.531T>C (p.Ala177=) c.477T>C (p.Ala159=) c.555T>C (p.Ala185=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.74893217T>G | CA491491297 | MPI | c.567T>G (p.Ala189=) c.487+415T>G (n.487+415T>G) c.417T>G (p.Ala139=) c.*463T>G (n.*463T>G) c.507T>G (p.Ala169=) c.255+1728T>G (n.255+1728T>G) c.337+415T>G (n.337+415T>G) c.525T>G (p.Ala175=) c.448+415T>G (n.448+415T>G) c.531T>G (p.Ala177=) c.477T>G (p.Ala159=) c.555T>G (p.Ala185=) | |
15 | g.74893217T= | CA2187897284 | MPI | c.567T= (p.Ala189=) c.487+415T= (n.487+415T=) c.417T= (p.Ala139=) c.*463T= (n.*463T=) c.507T= (p.Ala169=) c.255+1728T= (n.255+1728T=) c.337+415T= (n.337+415T=) c.525T= (p.Ala175=) c.448+415T= (n.448+415T=) c.531T= (p.Ala177=) c.477T= (p.Ala159=) c.555T= (p.Ala185=) | |
15 | g.74893218G>A | CA393174505 | MPI | c.568G>A (p.Val190Met) c.487+416G>A (n.487+416G>A) c.418G>A (p.Val140Met) c.*464G>A (n.*464G>A) c.508G>A (p.Val170Met) c.255+1729G>A (n.255+1729G>A) c.337+416G>A (n.337+416G>A) c.526G>A c.448+416G>A (n.448+416G>A) c.532G>A (p.Val178Met) c.478G>A (p.Val160Met) c.556G>A (p.Val186Met) | |
15 | g.74893218G>C | CA393174507 | MPI | c.568G>C (p.Val190Leu) c.487+416G>C (n.487+416G>C) c.418G>C (p.Val140Leu) c.*464G>C (n.*464G>C) c.508G>C (p.Val170Leu) c.255+1729G>C (n.255+1729G>C) c.337+416G>C (n.337+416G>C) c.526G>C c.448+416G>C (n.448+416G>C) c.532G>C (p.Val178Leu) c.478G>C (p.Val160Leu) c.556G>C (p.Val186Leu) | |
15 | g.74893218G>T | CA393174509 | MPI | c.568G>T (p.Val190Leu) c.487+416G>T (n.487+416G>T) c.418G>T (p.Val140Leu) c.*464G>T (n.*464G>T) c.508G>T (p.Val170Leu) c.255+1729G>T (n.255+1729G>T) c.337+416G>T (n.337+416G>T) c.526G>T c.448+416G>T (n.448+416G>T) c.532G>T (p.Val178Leu) c.478G>T (p.Val160Leu) c.556G>T (p.Val186Leu) | |
15 | g.74893219T>A | CA393174512 | MPI | c.569T>A (p.Val190Glu) c.487+417T>A (n.487+417T>A) c.419T>A (p.Val140Glu) c.*465T>A (n.*465T>A) c.509T>A (p.Val170Glu) c.255+1730T>A (n.255+1730T>A) c.337+417T>A (n.337+417T>A) c.527T>A c.448+417T>A (n.448+417T>A) c.533T>A (p.Val178Glu) c.479T>A (p.Val160Glu) c.557T>A (p.Val186Glu) | |
15 | g.74893219T>C | CA393174514 | MPI | c.569T>C (p.Val190Ala) c.487+417T>C (n.487+417T>C) c.419T>C (p.Val140Ala) c.*465T>C (n.*465T>C) c.509T>C (p.Val170Ala) c.255+1730T>C (n.255+1730T>C) c.337+417T>C (n.337+417T>C) c.527T>C c.448+417T>C (n.448+417T>C) c.533T>C (p.Val178Ala) c.479T>C (p.Val160Ala) c.557T>C (p.Val186Ala) | |
15 | g.74893219T>G | CA393174515 | MPI | c.569T>G (p.Val190Gly) c.487+417T>G (n.487+417T>G) c.419T>G (p.Val140Gly) c.*465T>G (n.*465T>G) c.509T>G (p.Val170Gly) c.255+1730T>G (n.255+1730T>G) c.337+417T>G (n.337+417T>G) c.527T>G c.448+417T>G (n.448+417T>G) c.533T>G (p.Val178Gly) c.479T>G (p.Val160Gly) c.557T>G (p.Val186Gly) | |
15 | g.74893220G>A | CA491491300 | MPI | c.570G>A (p.Val190=) c.487+418G>A (n.487+418G>A) c.420G>A (p.Val140=) c.*466G>A (n.*466G>A) c.510G>A (p.Val170=) c.255+1731G>A (n.255+1731G>A) c.337+418G>A (n.337+418G>A) c.448+418G>A (n.448+418G>A) c.534G>A (p.Val178=) c.480G>A (p.Val160=) c.558G>A (p.Val186=) | |
15 | g.74893220G>C | CA491491301 | MPI | c.570G>C (p.Val190=) c.487+418G>C (n.487+418G>C) c.420G>C (p.Val140=) c.*466G>C (n.*466G>C) c.510G>C (p.Val170=) c.255+1731G>C (n.255+1731G>C) c.337+418G>C (n.337+418G>C) c.448+418G>C (n.448+418G>C) c.534G>C (p.Val178=) c.480G>C (p.Val160=) c.558G>C (p.Val186=) | |
15 | g.74893220G>T | CA491491302 | MPI | c.570G>T (p.Val190=) c.487+418G>T (n.487+418G>T) c.420G>T (p.Val140=) c.*466G>T (n.*466G>T) c.510G>T (p.Val170=) c.255+1731G>T (n.255+1731G>T) c.337+418G>T (n.337+418G>T) c.448+418G>T (n.448+418G>T) c.534G>T (p.Val178=) c.480G>T (p.Val160=) c.558G>T (p.Val186=) | gnomAD v4 |
15 | g.74893221G>A | CA393174517 | MPI | c.571G>A (p.Ala191Thr) c.487+419G>A (n.487+419G>A) c.421G>A (p.Ala141Thr) c.*467G>A (n.*467G>A) c.511G>A (p.Ala171Thr) c.255+1732G>A (n.255+1732G>A) c.337+419G>A (n.337+419G>A) c.448+419G>A (n.448+419G>A) c.535G>A (p.Ala179Thr) c.481G>A (p.Ala161Thr) c.559G>A (p.Ala187Thr) | |
15 | g.74893221G>C | CA393174519 | MPI | c.571G>C (p.Ala191Pro) c.487+419G>C (n.487+419G>C) c.421G>C (p.Ala141Pro) c.*467G>C (n.*467G>C) c.511G>C (p.Ala171Pro) c.255+1732G>C (n.255+1732G>C) c.337+419G>C (n.337+419G>C) c.448+419G>C (n.448+419G>C) c.535G>C (p.Ala179Pro) c.481G>C (p.Ala161Pro) c.559G>C (p.Ala187Pro) | |
15 | g.74893221G>T | CA393174520 | MPI | c.571G>T (p.Ala191Ser) c.487+419G>T (n.487+419G>T) c.421G>T (p.Ala141Ser) c.*467G>T (n.*467G>T) c.511G>T (p.Ala171Ser) c.255+1732G>T (n.255+1732G>T) c.337+419G>T (n.337+419G>T) c.448+419G>T (n.448+419G>T) c.535G>T (p.Ala179Ser) c.481G>T (p.Ala161Ser) c.559G>T (p.Ala187Ser) | |
15 | g.74893222C>A | CA393174522 | MPI | c.572C>A (p.Ala191Asp) c.487+420C>A (n.487+420C>A) c.422C>A (p.Ala141Asp) c.*468C>A (n.*468C>A) c.512C>A (p.Ala171Asp) c.255+1733C>A (n.255+1733C>A) c.337+420C>A (n.337+420C>A) c.448+420C>A (n.448+420C>A) c.536C>A (p.Ala179Asp) c.482C>A (p.Ala161Asp) c.560C>A (p.Ala187Asp) | |
15 | g.74893222C>G | CA393174526 | MPI | c.572C>G (p.Ala191Gly) c.487+420C>G (n.487+420C>G) c.422C>G (p.Ala141Gly) c.*468C>G (n.*468C>G) c.512C>G (p.Ala171Gly) c.255+1733C>G (n.255+1733C>G) c.337+420C>G (n.337+420C>G) c.448+420C>G (n.448+420C>G) c.536C>G (p.Ala179Gly) c.482C>G (p.Ala161Gly) c.560C>G (p.Ala187Gly) | |
15 | g.74893222C>T | CA393174524 | MPI | c.572C>T (p.Ala191Val) c.487+420C>T (n.487+420C>T) c.422C>T (p.Ala141Val) c.*468C>T (n.*468C>T) c.512C>T (p.Ala171Val) c.255+1733C>T (n.255+1733C>T) c.337+420C>T (n.337+420C>T) c.448+420C>T (n.448+420C>T) c.536C>T (p.Ala179Val) c.482C>T (p.Ala161Val) c.560C>T (p.Ala187Val) | |
15 | g.74893226_74893228del | CA2629530441 | MPI | c.576_578del (p.Ser193del) c.487+424_487+426del (n.487+424_487+426del) c.426_428del (p.Ser143del) c.*472_*474del (n.*472_*474del) c.516_518del (p.Ser173del) c.255+1737_255+1739del (n.255+1737_255+1739del) c.337+424_337+426del (n.337+424_337+426del) c.448+424_448+426del (n.448+424_448+426del) c.540_542del (p.Ser181del) c.486_488del (p.Ser163del) c.564_566del (p.Ser189del) | gnomAD v4 |
15 | g.74893223C>A | CA491491303 | MPI | c.573C>A (p.Ala191=) c.487+421C>A (n.487+421C>A) c.423C>A (p.Ala141=) c.*469C>A (n.*469C>A) c.513C>A (p.Ala171=) c.255+1734C>A (n.255+1734C>A) c.337+421C>A (n.337+421C>A) c.448+421C>A (n.448+421C>A) c.537C>A (p.Ala179=) c.483C>A (p.Ala161=) c.561C>A (p.Ala187=) | |
15 | g.74893223C= | CA2187897288 | MPI | c.573C= (p.Ala191=) c.487+421C= (n.487+421C=) c.423C= (p.Ala141=) c.*469C= (n.*469C=) c.513C= (p.Ala171=) c.255+1734C= (n.255+1734C=) c.337+421C= (n.337+421C=) c.448+421C= (n.448+421C=) c.537C= (p.Ala179=) c.483C= (p.Ala161=) c.561C= (p.Ala187=) | |
15 | g.74893223C>G | CA491491304 | MPI | c.573C>G (p.Ala191=) c.487+421C>G (n.487+421C>G) c.423C>G (p.Ala141=) c.*469C>G (n.*469C>G) c.513C>G (p.Ala171=) c.255+1734C>G (n.255+1734C>G) c.337+421C>G (n.337+421C>G) c.448+421C>G (n.448+421C>G) c.537C>G (p.Ala179=) c.483C>G (p.Ala161=) c.561C>G (p.Ala187=) | |
15 | g.74893223C>T | CA7662464 | MPI | c.573C>T (p.Ala191=) c.487+421C>T (n.487+421C>T) c.423C>T (p.Ala141=) c.*469C>T (n.*469C>T) c.513C>T (p.Ala171=) c.255+1734C>T (n.255+1734C>T) c.337+421C>T (n.337+421C>T) c.448+421C>T (n.448+421C>T) c.537C>T (p.Ala179=) c.483C>T (p.Ala161=) c.561C>T (p.Ala187=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.74893224T>A | CA393174529 | MPI | c.574T>A (p.Ser192Thr) c.487+422T>A (n.487+422T>A) c.424T>A (p.Ser142Thr) c.*470T>A (n.*470T>A) c.514T>A (p.Ser172Thr) c.255+1735T>A (n.255+1735T>A) c.337+422T>A (n.337+422T>A) c.448+422T>A (n.448+422T>A) c.538T>A (p.Ser180Thr) c.484T>A (p.Ser162Thr) c.562T>A (p.Ser188Thr) | |
15 | g.74893224T>C | CA393174531 | MPI | c.574T>C (p.Ser192Pro) c.487+422T>C (n.487+422T>C) c.424T>C (p.Ser142Pro) c.*470T>C (n.*470T>C) c.514T>C (p.Ser172Pro) c.255+1735T>C (n.255+1735T>C) c.337+422T>C (n.337+422T>C) c.448+422T>C (n.448+422T>C) c.538T>C (p.Ser180Pro) c.484T>C (p.Ser162Pro) c.562T>C (p.Ser188Pro) | gnomAD v4 |
15 | g.74893224T>G | CA393174533 | MPI | c.574T>G (p.Ser192Ala) c.487+422T>G (n.487+422T>G) c.424T>G (p.Ser142Ala) c.*470T>G (n.*470T>G) c.514T>G (p.Ser172Ala) c.255+1735T>G (n.255+1735T>G) c.337+422T>G (n.337+422T>G) c.448+422T>G (n.448+422T>G) c.538T>G (p.Ser180Ala) c.484T>G (p.Ser162Ala) c.562T>G (p.Ser188Ala) | |
15 | g.74893225C>A | CA393174535 | MPI | c.575C>A (p.Ser192Tyr) c.487+423C>A (n.487+423C>A) c.425C>A (p.Ser142Tyr) c.*471C>A (n.*471C>A) c.515C>A (p.Ser172Tyr) c.255+1736C>A (n.255+1736C>A) c.337+423C>A (n.337+423C>A) c.448+423C>A (n.448+423C>A) c.539C>A (p.Ser180Tyr) c.485C>A (p.Ser162Tyr) c.563C>A (p.Ser188Tyr) | |
15 | g.74893225C>G | CA393174537 | MPI | c.575C>G (p.Ser192Cys) c.487+423C>G (n.487+423C>G) c.425C>G (p.Ser142Cys) c.*471C>G (n.*471C>G) c.515C>G (p.Ser172Cys) c.255+1736C>G (n.255+1736C>G) c.337+423C>G (n.337+423C>G) c.448+423C>G (n.448+423C>G) c.539C>G (p.Ser180Cys) c.485C>G (p.Ser162Cys) c.563C>G (p.Ser188Cys) | |
15 | g.74893225C>T | CA393174539 | MPI | c.575C>T (p.Ser192Phe) c.487+423C>T (n.487+423C>T) c.425C>T (p.Ser142Phe) c.*471C>T (n.*471C>T) c.515C>T (p.Ser172Phe) c.255+1736C>T (n.255+1736C>T) c.337+423C>T (n.337+423C>T) c.448+423C>T (n.448+423C>T) c.539C>T (p.Ser180Phe) c.485C>T (p.Ser162Phe) c.563C>T (p.Ser188Phe) | |
15 | g.74893226C>A | CA491491305 | MPI | c.576C>A (p.Ser192=) c.487+424C>A (n.487+424C>A) c.426C>A (p.Ser142=) c.*472C>A (n.*472C>A) c.516C>A (p.Ser172=) c.255+1737C>A (n.255+1737C>A) c.337+424C>A (n.337+424C>A) c.448+424C>A (n.448+424C>A) c.540C>A (p.Ser180=) c.486C>A (p.Ser162=) c.564C>A (p.Ser188=) | |
15 | g.74893226C= | CA2187897292 | MPI | c.576C= (p.Ser192=) c.487+424C= (n.487+424C=) c.426C= (p.Ser142=) c.*472C= (n.*472C=) c.516C= (p.Ser172=) c.255+1737C= (n.255+1737C=) c.337+424C= (n.337+424C=) c.448+424C= (n.448+424C=) c.540C= (p.Ser180=) c.486C= (p.Ser162=) c.564C= (p.Ser188=) | |
15 | g.74893226C>G | CA491491306 | MPI | c.576C>G (p.Ser192=) c.487+424C>G (n.487+424C>G) c.426C>G (p.Ser142=) c.*472C>G (n.*472C>G) c.516C>G (p.Ser172=) c.255+1737C>G (n.255+1737C>G) c.337+424C>G (n.337+424C>G) c.448+424C>G (n.448+424C>G) c.540C>G (p.Ser180=) c.486C>G (p.Ser162=) c.564C>G (p.Ser188=) | ClinVar |
15 | g.74893226C>T | CA246057 | MPI | c.576C>T (p.Ser192=) c.487+424C>T (n.487+424C>T) c.426C>T (p.Ser142=) c.*472C>T (n.*472C>T) c.516C>T (p.Ser172=) c.255+1737C>T (n.255+1737C>T) c.337+424C>T (n.337+424C>T) c.448+424C>T (n.448+424C>T) c.540C>T (p.Ser180=) c.486C>T (p.Ser162=) c.564C>T (p.Ser188=) | ClinVar dbSNP |
15 | g.74893227T>A | CA272823563 | MPI | c.577T>A (p.Ser193Thr) c.487+425T>A (n.487+425T>A) c.427T>A (p.Ser143Thr) c.*473T>A (n.*473T>A) c.517T>A (p.Ser173Thr) c.255+1738T>A (n.255+1738T>A) c.337+425T>A (n.337+425T>A) c.448+425T>A (n.448+425T>A) c.541T>A (p.Ser181Thr) c.487T>A (p.Ser163Thr) c.565T>A (p.Ser189Thr) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.74893227T>C | CA393174543 | MPI | c.577T>C (p.Ser193Pro) c.487+425T>C (n.487+425T>C) c.427T>C (p.Ser143Pro) c.*473T>C (n.*473T>C) c.517T>C (p.Ser173Pro) c.255+1738T>C (n.255+1738T>C) c.337+425T>C (n.337+425T>C) c.448+425T>C (n.448+425T>C) c.541T>C (p.Ser181Pro) c.487T>C (p.Ser163Pro) c.565T>C (p.Ser189Pro) | |
15 | g.74893227T>G | CA393174545 | MPI | c.577T>G (p.Ser193Ala) c.487+425T>G (n.487+425T>G) c.427T>G (p.Ser143Ala) c.*473T>G (n.*473T>G) c.517T>G (p.Ser173Ala) c.255+1738T>G (n.255+1738T>G) c.337+425T>G (n.337+425T>G) c.448+425T>G (n.448+425T>G) c.541T>G (p.Ser181Ala) c.487T>G (p.Ser163Ala) c.565T>G (p.Ser189Ala) | |
15 | g.74893227T= | CA2187897298 | MPI | c.577T= (p.Ser193=) c.487+425T= (n.487+425T=) c.427T= (p.Ser143=) c.*473T= (n.*473T=) c.517T= (p.Ser173=) c.255+1738T= (n.255+1738T=) c.337+425T= (n.337+425T=) c.448+425T= (n.448+425T=) c.541T= (p.Ser181=) c.487T= (p.Ser163=) c.565T= (p.Ser189=) | |
15 | g.74893228C>A | CA393174546 | MPI | c.578C>A (p.Ser193Tyr) c.487+426C>A (n.487+426C>A) c.428C>A (p.Ser143Tyr) c.*474C>A (n.*474C>A) c.518C>A (p.Ser173Tyr) c.255+1739C>A (n.255+1739C>A) c.337+426C>A (n.337+426C>A) c.448+426C>A (n.448+426C>A) c.542C>A (p.Ser181Tyr) c.488C>A (p.Ser163Tyr) c.566C>A (p.Ser189Tyr) | |
15 | g.74893228C>G | CA393174548 | MPI | c.578C>G (p.Ser193Cys) c.487+426C>G (n.487+426C>G) c.428C>G (p.Ser143Cys) c.*474C>G (n.*474C>G) c.518C>G (p.Ser173Cys) c.255+1739C>G (n.255+1739C>G) c.337+426C>G (n.337+426C>G) c.448+426C>G (n.448+426C>G) c.542C>G (p.Ser181Cys) c.488C>G (p.Ser163Cys) c.566C>G (p.Ser189Cys) | |
15 | g.74893228C>T | CA393174550 | MPI | c.578C>T (p.Ser193Phe) c.487+426C>T (n.487+426C>T) c.428C>T (p.Ser143Phe) c.*474C>T (n.*474C>T) c.518C>T (p.Ser173Phe) c.255+1739C>T (n.255+1739C>T) c.337+426C>T (n.337+426C>T) c.448+426C>T (n.448+426C>T) c.542C>T (p.Ser181Phe) c.488C>T (p.Ser163Phe) c.566C>T (p.Ser189Phe) | |
15 | g.74893229T>A | CA491491307 | MPI | c.579T>A (p.Ser193=) c.487+427T>A (n.487+427T>A) c.429T>A (p.Ser143=) c.*475T>A (n.*475T>A) c.519T>A (p.Ser173=) c.255+1740T>A (n.255+1740T>A) c.337+427T>A (n.337+427T>A) c.448+427T>A (n.448+427T>A) c.543T>A (p.Ser181=) c.489T>A (p.Ser163=) c.567T>A (p.Ser189=) | |
15 | g.74893229T>C | CA491491308 | MPI | c.579T>C (p.Ser193=) c.487+427T>C (n.487+427T>C) c.429T>C (p.Ser143=) c.*475T>C (n.*475T>C) c.519T>C (p.Ser173=) c.255+1740T>C (n.255+1740T>C) c.337+427T>C (n.337+427T>C) c.448+427T>C (n.448+427T>C) c.543T>C (p.Ser181=) c.489T>C (p.Ser163=) c.567T>C (p.Ser189=) | |
15 | g.74893229T>G | CA491491309 | MPI | c.579T>G (p.Ser193=) c.487+427T>G (n.487+427T>G) c.429T>G (p.Ser143=) c.*475T>G (n.*475T>G) c.519T>G (p.Ser173=) c.255+1740T>G (n.255+1740T>G) c.337+427T>G (n.337+427T>G) c.448+427T>G (n.448+427T>G) c.543T>G (p.Ser181=) c.489T>G (p.Ser163=) c.567T>G (p.Ser189=) | |
15 | g.74893230C>A | CA393174552 | MPI | c.580C>A (p.Leu194Met) c.487+428C>A (n.487+428C>A) c.430C>A (p.Leu144Met) c.*476C>A (n.*476C>A) c.520C>A (p.Leu174Met) c.255+1741C>A (n.255+1741C>A) c.337+428C>A (n.337+428C>A) c.520C>A c.448+428C>A (n.448+428C>A) c.544C>A (p.Leu182Met) c.490C>A (p.Leu164Met) c.568C>A (p.Leu190Met) | |
15 | g.74893230C= | CA2187897300 | MPI | c.580C= (p.Leu194=) c.487+428C= (n.487+428C=) c.430C= (p.Leu144=) c.*476C= (n.*476C=) c.520C= (p.Leu174=) c.255+1741C= (n.255+1741C=) c.337+428C= (n.337+428C=) c.520C= c.448+428C= (n.448+428C=) c.544C= (p.Leu182=) c.490C= (p.Leu164=) c.568C= (p.Leu190=) | |
15 | g.74893230C>G | CA393174554 | MPI | c.580C>G (p.Leu194Val) c.487+428C>G (n.487+428C>G) c.430C>G (p.Leu144Val) c.*476C>G (n.*476C>G) c.520C>G (p.Leu174Val) c.255+1741C>G (n.255+1741C>G) c.337+428C>G (n.337+428C>G) c.520C>G c.448+428C>G (n.448+428C>G) c.544C>G (p.Leu182Val) c.490C>G (p.Leu164Val) c.568C>G (p.Leu190Val) | |
15 | g.74893230C>T | CA491491310 | MPI | c.580C>T (p.Leu194=) c.487+428C>T (n.487+428C>T) c.430C>T (p.Leu144=) c.*476C>T (n.*476C>T) c.520C>T (p.Leu174=) c.255+1741C>T (n.255+1741C>T) c.337+428C>T (n.337+428C>T) c.520C>T c.448+428C>T (n.448+428C>T) c.544C>T (p.Leu182=) c.490C>T (p.Leu164=) c.568C>T (p.Leu190=) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.74893231T>A | CA393174556 | MPI | c.581T>A (p.Leu194Gln) c.487+429T>A (n.487+429T>A) c.431T>A (p.Leu144Gln) c.*477T>A (n.*477T>A) c.521T>A (p.Leu174Gln) c.255+1742T>A (n.255+1742T>A) c.337+429T>A (n.337+429T>A) c.448+429T>A (n.448+429T>A) c.545T>A (p.Leu182Gln) c.491T>A (p.Leu164Gln) c.569T>A (p.Leu190Gln) | |
15 | g.74893231T>C | CA393174558 | MPI | c.581T>C (p.Leu194Pro) c.487+429T>C (n.487+429T>C) c.431T>C (p.Leu144Pro) c.*477T>C (n.*477T>C) c.521T>C (p.Leu174Pro) c.255+1742T>C (n.255+1742T>C) c.337+429T>C (n.337+429T>C) c.448+429T>C (n.448+429T>C) c.545T>C (p.Leu182Pro) c.491T>C (p.Leu164Pro) c.569T>C (p.Leu190Pro) | gnomAD v4 |
15 | g.74893231T>G | CA393174560 | MPI | c.581T>G (p.Leu194Arg) c.487+429T>G (n.487+429T>G) c.431T>G (p.Leu144Arg) c.*477T>G (n.*477T>G) c.521T>G (p.Leu174Arg) c.255+1742T>G (n.255+1742T>G) c.337+429T>G (n.337+429T>G) c.448+429T>G (n.448+429T>G) c.545T>G (p.Leu182Arg) c.491T>G (p.Leu164Arg) c.569T>G (p.Leu190Arg) | |
15 | g.74893232G>A | CA491491313 | MPI | c.582G>A (p.Leu194=) c.487+430G>A (n.487+430G>A) c.432G>A (p.Leu144=) c.*478G>A (n.*478G>A) c.522G>A (p.Leu174=) c.255+1743G>A (n.255+1743G>A) c.337+430G>A (n.337+430G>A) c.448+430G>A (n.448+430G>A) c.546G>A (p.Leu182=) c.492G>A (p.Leu164=) c.570G>A (p.Leu190=) | |
15 | g.74893232G>C | CA491491312 | MPI | c.582G>C (p.Leu194=) c.487+430G>C (n.487+430G>C) c.432G>C (p.Leu144=) c.*478G>C (n.*478G>C) c.522G>C (p.Leu174=) c.255+1743G>C (n.255+1743G>C) c.337+430G>C (n.337+430G>C) c.448+430G>C (n.448+430G>C) c.546G>C (p.Leu182=) c.492G>C (p.Leu164=) c.570G>C (p.Leu190=) | |
15 | g.74893232G>T | CA491491311 | MPI | c.582G>T (p.Leu194=) c.487+430G>T (n.487+430G>T) c.432G>T (p.Leu144=) c.*478G>T (n.*478G>T) c.522G>T (p.Leu174=) c.255+1743G>T (n.255+1743G>T) c.337+430G>T (n.337+430G>T) c.448+430G>T (n.448+430G>T) c.546G>T (p.Leu182=) c.492G>T (p.Leu164=) c.570G>T (p.Leu190=) | |
15 | g.74893233C>A | CA393174561 | MPI | c.583C>A (p.Gln195Lys) c.487+431C>A (n.487+431C>A) c.433C>A (p.Gln145Lys) c.*479C>A (n.*479C>A) c.523C>A (p.Gln175Lys) c.255+1744C>A (n.255+1744C>A) c.337+431C>A (n.337+431C>A) c.448+431C>A (n.448+431C>A) c.547C>A (p.Gln183Lys) c.493C>A (p.Gln165Lys) c.571C>A (p.Gln191Lys) | |
15 | g.74893233C>G | CA393174563 | MPI | c.583C>G (p.Gln195Glu) c.487+431C>G (n.487+431C>G) c.433C>G (p.Gln145Glu) c.*479C>G (n.*479C>G) c.523C>G (p.Gln175Glu) c.255+1744C>G (n.255+1744C>G) c.337+431C>G (n.337+431C>G) c.448+431C>G (n.448+431C>G) c.547C>G (p.Gln183Glu) c.493C>G (p.Gln165Glu) c.571C>G (p.Gln191Glu) | |
15 | g.74893233C>T | CA393174565 | MPI | c.583C>T (p.Gln195Ter) c.487+431C>T (n.487+431C>T) c.433C>T (p.Gln145Ter) c.*479C>T (n.*479C>T) c.523C>T (p.Gln175Ter) c.255+1744C>T (n.255+1744C>T) c.337+431C>T (n.337+431C>T) c.448+431C>T (n.448+431C>T) c.547C>T (p.Gln183Ter) c.493C>T (p.Gln165Ter) c.571C>T (p.Gln191Ter) | gnomAD v4 |
15 | g.74893234A>C | CA393174567 | MPI | c.584A>C (p.Gln195Pro) c.487+432A>C (n.487+432A>C) c.434A>C (p.Gln145Pro) c.*480A>C (n.*480A>C) c.524A>C (p.Gln175Pro) c.255+1745A>C (n.255+1745A>C) c.337+432A>C (n.337+432A>C) c.448+432A>C (n.448+432A>C) c.548A>C (p.Gln183Pro) c.494A>C (p.Gln165Pro) c.572A>C (p.Gln191Pro) | |
15 | g.74893234A>G | CA393174569 | MPI | c.584A>G (p.Gln195Arg) c.487+432A>G (n.487+432A>G) c.434A>G (p.Gln145Arg) c.*480A>G (n.*480A>G) c.524A>G (p.Gln175Arg) c.255+1745A>G (n.255+1745A>G) c.337+432A>G (n.337+432A>G) c.448+432A>G (n.448+432A>G) c.548A>G (p.Gln183Arg) c.494A>G (p.Gln165Arg) c.572A>G (p.Gln191Arg) | |
15 | g.74893234A>T | CA393174571 | MPI | c.584A>T (p.Gln195Leu) c.487+432A>T (n.487+432A>T) c.434A>T (p.Gln145Leu) c.*480A>T (n.*480A>T) c.524A>T (p.Gln175Leu) c.255+1745A>T (n.255+1745A>T) c.337+432A>T (n.337+432A>T) c.448+432A>T (n.448+432A>T) c.548A>T (p.Gln183Leu) c.494A>T (p.Gln165Leu) c.572A>T (p.Gln191Leu) | |
15 | g.74893235G>A | CA491491314 | MPI | c.585G>A (p.Gln195=) c.487+433G>A (n.487+433G>A) c.435G>A (p.Gln145=) c.*481G>A (n.*481G>A) c.525G>A (p.Gln175=) c.255+1746G>A (n.255+1746G>A) c.337+433G>A (n.337+433G>A) c.448+433G>A (n.448+433G>A) c.549G>A (p.Gln183=) c.495G>A (p.Gln165=) c.573G>A (p.Gln191=) | |
15 | g.74893235G>C | CA393174573 | MPI | c.585G>C (p.Gln195His) c.487+433G>C (n.487+433G>C) c.435G>C (p.Gln145His) c.*481G>C (n.*481G>C) c.525G>C (p.Gln175His) c.255+1746G>C (n.255+1746G>C) c.337+433G>C (n.337+433G>C) c.448+433G>C (n.448+433G>C) c.549G>C (p.Gln183His) c.495G>C (p.Gln165His) c.573G>C (p.Gln191His) | |
15 | g.74893235G>T | CA393174575 | MPI | c.585G>T (p.Gln195His) c.487+433G>T (n.487+433G>T) c.435G>T (p.Gln145His) c.*481G>T (n.*481G>T) c.525G>T (p.Gln175His) c.255+1746G>T (n.255+1746G>T) c.337+433G>T (n.337+433G>T) c.448+433G>T (n.448+433G>T) c.549G>T (p.Gln183His) c.495G>T (p.Gln165His) c.573G>T (p.Gln191His) | |
15 | g.74893236A>C | CA393174577 | MPI | c.586A>C (p.Ser196Arg) c.487+434A>C (n.487+434A>C) c.436A>C (p.Ser146Arg) c.*482A>C (n.*482A>C) c.526A>C (p.Ser176Arg) c.255+1747A>C (n.255+1747A>C) c.337+434A>C (n.337+434A>C) c.448+434A>C (n.448+434A>C) c.550A>C (p.Ser184Arg) c.496A>C (p.Ser166Arg) c.574A>C (p.Ser192Arg) | |
15 | g.74893236A>G | CA393174581 | MPI | c.586A>G (p.Ser196Gly) c.487+434A>G (n.487+434A>G) c.436A>G (p.Ser146Gly) c.*482A>G (n.*482A>G) c.526A>G (p.Ser176Gly) c.255+1747A>G (n.255+1747A>G) c.337+434A>G (n.337+434A>G) c.448+434A>G (n.448+434A>G) c.550A>G (p.Ser184Gly) c.496A>G (p.Ser166Gly) c.574A>G (p.Ser192Gly) | |
15 | g.74893236A>T | CA393174579 | MPI | c.586A>T (p.Ser196Cys) c.487+434A>T (n.487+434A>T) c.436A>T (p.Ser146Cys) c.*482A>T (n.*482A>T) c.526A>T (p.Ser176Cys) c.255+1747A>T (n.255+1747A>T) c.337+434A>T (n.337+434A>T) c.448+434A>T (n.448+434A>T) c.550A>T (p.Ser184Cys) c.496A>T (p.Ser166Cys) c.574A>T (p.Ser192Cys) | |
15 | g.74893237G>A | CA7662465 | MPI | c.587G>A (p.Ser196Asn) c.487+435G>A (n.487+435G>A) c.437G>A (p.Ser146Asn) c.*483G>A (n.*483G>A) c.527G>A (p.Ser176Asn) c.255+1748G>A (n.255+1748G>A) c.337+435G>A (n.337+435G>A) c.448+435G>A (n.448+435G>A) c.551G>A (p.Ser184Asn) c.497G>A (p.Ser166Asn) c.575G>A (p.Ser192Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.74893237G>C | CA393174586 | MPI | c.587G>C (p.Ser196Thr) c.487+435G>C (n.487+435G>C) c.437G>C (p.Ser146Thr) c.*483G>C (n.*483G>C) c.527G>C (p.Ser176Thr) c.255+1748G>C (n.255+1748G>C) c.337+435G>C (n.337+435G>C) c.448+435G>C (n.448+435G>C) c.551G>C (p.Ser184Thr) c.497G>C (p.Ser166Thr) c.575G>C (p.Ser192Thr) | |
15 | g.74893237G= | CA2187897303 | MPI | c.587G= (p.Ser196=) c.487+435G= (n.487+435G=) c.437G= (p.Ser146=) c.*483G= (n.*483G=) c.527G= (p.Ser176=) c.255+1748G= (n.255+1748G=) c.337+435G= (n.337+435G=) c.448+435G= (n.448+435G=) c.551G= (p.Ser184=) c.497G= (p.Ser166=) c.575G= (p.Ser192=) | |
15 | g.74893237G>T | CA393174584 | MPI | c.587G>T (p.Ser196Ile) c.487+435G>T (n.487+435G>T) c.437G>T (p.Ser146Ile) c.*483G>T (n.*483G>T) c.527G>T (p.Ser176Ile) c.255+1748G>T (n.255+1748G>T) c.337+435G>T (n.337+435G>T) c.448+435G>T (n.448+435G>T) c.551G>T (p.Ser184Ile) c.497G>T (p.Ser166Ile) c.575G>T (p.Ser192Ile) | |
15 | g.74893238C>A | CA393174588 | MPI | c.588C>A (p.Ser196Arg) c.487+436C>A (n.487+436C>A) c.438C>A (p.Ser146Arg) c.*484C>A (n.*484C>A) c.528C>A (p.Ser176Arg) c.255+1749C>A (n.255+1749C>A) c.337+436C>A (n.337+436C>A) c.448+436C>A (n.448+436C>A) c.552C>A (p.Ser184Arg) c.498C>A (p.Ser166Arg) c.576C>A (p.Ser192Arg) | |
15 | g.74893238C>G | CA393174589 | MPI | c.588C>G (p.Ser196Arg) c.487+436C>G (n.487+436C>G) c.438C>G (p.Ser146Arg) c.*484C>G (n.*484C>G) c.528C>G (p.Ser176Arg) c.255+1749C>G (n.255+1749C>G) c.337+436C>G (n.337+436C>G) c.448+436C>G (n.448+436C>G) c.552C>G (p.Ser184Arg) c.498C>G (p.Ser166Arg) c.576C>G (p.Ser192Arg) | |
15 | g.74893238C>T | CA491491315 | MPI | c.588C>T (p.Ser196=) c.487+436C>T (n.487+436C>T) c.438C>T (p.Ser146=) c.*484C>T (n.*484C>T) c.528C>T (p.Ser176=) c.255+1749C>T (n.255+1749C>T) c.337+436C>T (n.337+436C>T) c.448+436C>T (n.448+436C>T) c.552C>T (p.Ser184=) c.498C>T (p.Ser166=) c.576C>T (p.Ser192=) | |
15 | g.74893239T>A | CA393174592 | MPI | c.589T>A (p.Cys197Ser) c.487+437T>A (n.487+437T>A) c.439T>A (p.Cys147Ser) c.*485T>A (n.*485T>A) c.529T>A (p.Cys177Ser) c.255+1750T>A (n.255+1750T>A) c.337+437T>A (n.337+437T>A) c.448+437T>A (n.448+437T>A) c.553T>A (p.Cys185Ser) c.499T>A (p.Cys167Ser) c.577T>A (p.Cys193Ser) | |
15 | g.74893239T>C | CA393174594 | MPI | c.589T>C (p.Cys197Arg) c.487+437T>C (n.487+437T>C) c.439T>C (p.Cys147Arg) c.*485T>C (n.*485T>C) c.529T>C (p.Cys177Arg) c.255+1750T>C (n.255+1750T>C) c.337+437T>C (n.337+437T>C) c.448+437T>C (n.448+437T>C) c.553T>C (p.Cys185Arg) c.499T>C (p.Cys167Arg) c.577T>C (p.Cys193Arg) | |
15 | g.74893239T>G | CA393174596 | MPI | c.589T>G (p.Cys197Gly) c.487+437T>G (n.487+437T>G) c.439T>G (p.Cys147Gly) c.*485T>G (n.*485T>G) c.529T>G (p.Cys177Gly) c.255+1750T>G (n.255+1750T>G) c.337+437T>G (n.337+437T>G) c.448+437T>G (n.448+437T>G) c.553T>G (p.Cys185Gly) c.499T>G (p.Cys167Gly) c.577T>G (p.Cys193Gly) | |
15 | g.74893240G>A | CA393174598 | MPI | c.590G>A (p.Cys197Tyr) c.487+438G>A (n.487+438G>A) c.440G>A (p.Cys147Tyr) c.*486G>A (n.*486G>A) c.530G>A (p.Cys177Tyr) c.255+1751G>A (n.255+1751G>A) c.337+438G>A (n.337+438G>A) c.448+438G>A (n.448+438G>A) c.554G>A (p.Cys185Tyr) c.500G>A (p.Cys167Tyr) c.578G>A (p.Cys193Tyr) | |
15 | g.74893240G>C | CA393174600 | MPI | c.590G>C (p.Cys197Ser) c.487+438G>C (n.487+438G>C) c.440G>C (p.Cys147Ser) c.*486G>C (n.*486G>C) c.530G>C (p.Cys177Ser) c.255+1751G>C (n.255+1751G>C) c.337+438G>C (n.337+438G>C) c.448+438G>C (n.448+438G>C) c.554G>C (p.Cys185Ser) c.500G>C (p.Cys167Ser) c.578G>C (p.Cys193Ser) | |
15 | g.74893240G>T | CA393174602 | MPI | c.590G>T (p.Cys197Phe) c.487+438G>T (n.487+438G>T) c.440G>T (p.Cys147Phe) c.*486G>T (n.*486G>T) c.530G>T (p.Cys177Phe) c.255+1751G>T (n.255+1751G>T) c.337+438G>T (n.337+438G>T) c.448+438G>T (n.448+438G>T) c.554G>T (p.Cys185Phe) c.500G>T (p.Cys167Phe) c.578G>T (p.Cys193Phe) | |
15 | g.74893241T>A | CA393174604 | MPI | c.591T>A (p.Cys197Ter) c.487+439T>A (n.487+439T>A) c.441T>A (p.Cys147Ter) c.*487T>A (n.*487T>A) c.531T>A (p.Cys177Ter) c.255+1752T>A (n.255+1752T>A) c.337+439T>A (n.337+439T>A) c.448+439T>A (n.448+439T>A) c.555T>A (p.Cys185Ter) c.501T>A (p.Cys167Ter) c.579T>A (p.Cys193Ter) | |
15 | g.74893241T>C | CA491491316 | MPI | c.591T>C (p.Cys197=) c.487+439T>C (n.487+439T>C) c.441T>C (p.Cys147=) c.*487T>C (n.*487T>C) c.531T>C (p.Cys177=) c.255+1752T>C (n.255+1752T>C) c.337+439T>C (n.337+439T>C) c.448+439T>C (n.448+439T>C) c.555T>C (p.Cys185=) c.501T>C (p.Cys167=) c.579T>C (p.Cys193=) | ClinVar dbSNP |
15 | g.74893241T>G | CA393174606 | MPI | c.591T>G (p.Cys197Trp) c.487+439T>G (n.487+439T>G) c.441T>G (p.Cys147Trp) c.*487T>G (n.*487T>G) c.531T>G (p.Cys177Trp) c.255+1752T>G (n.255+1752T>G) c.337+439T>G (n.337+439T>G) c.448+439T>G (n.448+439T>G) c.555T>G (p.Cys185Trp) c.501T>G (p.Cys167Trp) c.579T>G (p.Cys193Trp) | |
15 | g.74893243dup | CA2739269588 | MPI | c.593dup (p.Ser199LeufsTer7) c.487+441dup (n.487+441dup) c.443dup (p.Ser149LeufsTer7) c.*489dup (n.*489dup) c.533dup (p.Ser179LeufsTer7) c.255+1754dup (n.255+1754dup) c.337+441dup (n.337+441dup) c.448+441dup (n.448+441dup) c.503dup (p.Phe168=) c.581dup (p.Ser195LeufsTer7) | ClinVar |
15 | g.74893242T>A | CA393174612 | MPI | c.592T>A (p.Phe198Ile) c.487+440T>A (n.487+440T>A) c.442T>A (p.Phe148Ile) c.*488T>A (n.*488T>A) c.532T>A (p.Phe178Ile) c.255+1753T>A (n.255+1753T>A) c.337+440T>A (n.337+440T>A) c.448+440T>A (n.448+440T>A) c.556T>A c.502T>A (p.Phe168Ile) c.580T>A (p.Phe194Ile) | |
15 | g.74893242T>C | CA393174610 | MPI | c.592T>C (p.Phe198Leu) c.487+440T>C (n.487+440T>C) c.442T>C (p.Phe148Leu) c.*488T>C (n.*488T>C) c.532T>C (p.Phe178Leu) c.255+1753T>C (n.255+1753T>C) c.337+440T>C (n.337+440T>C) c.448+440T>C (n.448+440T>C) c.556T>C c.502T>C (p.Phe168Leu) c.580T>C (p.Phe194Leu) | |
15 | g.74893242T>G | CA393174608 | MPI | c.592T>G (p.Phe198Val) c.487+440T>G (n.487+440T>G) c.442T>G (p.Phe148Val) c.*488T>G (n.*488T>G) c.532T>G (p.Phe178Val) c.255+1753T>G (n.255+1753T>G) c.337+440T>G (n.337+440T>G) c.448+440T>G (n.448+440T>G) c.556T>G c.502T>G (p.Phe168Val) c.580T>G (p.Phe194Val) | |
15 | g.74893243T>A | CA393174614 | MPI | c.593T>A (p.Phe198Tyr) c.487+441T>A (n.487+441T>A) c.443T>A (p.Phe148Tyr) c.*489T>A (n.*489T>A) c.533T>A (p.Phe178Tyr) c.255+1754T>A (n.255+1754T>A) c.337+441T>A (n.337+441T>A) c.448+441T>A (n.448+441T>A) c.503T>A (p.Phe168Tyr) c.581T>A (p.Phe194Tyr) | |
15 | g.74893243T>C | CA393174616 | MPI | c.593T>C (p.Phe198Ser) c.487+441T>C (n.487+441T>C) c.443T>C (p.Phe148Ser) c.*489T>C (n.*489T>C) c.533T>C (p.Phe178Ser) c.255+1754T>C (n.255+1754T>C) c.337+441T>C (n.337+441T>C) c.448+441T>C (n.448+441T>C) c.503T>C (p.Phe168Ser) c.581T>C (p.Phe194Ser) | |
15 | g.74893243T>G | CA393174618 | MPI | c.593T>G (p.Phe198Cys) c.487+441T>G (n.487+441T>G) c.443T>G (p.Phe148Cys) c.*489T>G (n.*489T>G) c.533T>G (p.Phe178Cys) c.255+1754T>G (n.255+1754T>G) c.337+441T>G (n.337+441T>G) c.448+441T>G (n.448+441T>G) c.503T>G (p.Phe168Cys) c.581T>G (p.Phe194Cys) | |
15 | g.74893244C>A | CA393174620 | MPI | c.594C>A (p.Phe198Leu) c.487+442C>A (n.487+442C>A) c.444C>A (p.Phe148Leu) c.*490C>A (n.*490C>A) c.534C>A (p.Phe178Leu) c.255+1755C>A (n.255+1755C>A) c.337+442C>A (n.337+442C>A) c.448+442C>A (n.448+442C>A) c.504C>A (p.Phe168Leu) c.582C>A (p.Phe194Leu) | gnomAD v4 |
15 | g.74893244C= | CA2187897308 | MPI | c.594C= (p.Phe198=) c.487+442C= (n.487+442C=) c.444C= (p.Phe148=) c.*490C= (n.*490C=) c.534C= (p.Phe178=) c.255+1755C= (n.255+1755C=) c.337+442C= (n.337+442C=) c.448+442C= (n.448+442C=) c.504C= (p.Phe168=) c.582C= (p.Phe194=) | |
15 | g.74893244C>G | CA393174622 | MPI | c.594C>G (p.Phe198Leu) c.487+442C>G (n.487+442C>G) c.444C>G (p.Phe148Leu) c.*490C>G (n.*490C>G) c.534C>G (p.Phe178Leu) c.255+1755C>G (n.255+1755C>G) c.337+442C>G (n.337+442C>G) c.448+442C>G (n.448+442C>G) c.504C>G (p.Phe168Leu) c.582C>G (p.Phe194Leu) | |
15 | g.74893244C>T | CA491491317 | MPI | c.594C>T (p.Phe198=) c.487+442C>T (n.487+442C>T) c.444C>T (p.Phe148=) c.*490C>T (n.*490C>T) c.534C>T (p.Phe178=) c.255+1755C>T (n.255+1755C>T) c.337+442C>T (n.337+442C>T) c.448+442C>T (n.448+442C>T) c.504C>T (p.Phe168=) c.582C>T (p.Phe194=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.74893245T>A | CA393174625 | MPI | c.595T>A (p.Ser199Thr) c.487+443T>A (n.487+443T>A) c.445T>A (p.Ser149Thr) c.*491T>A (n.*491T>A) c.535T>A (p.Ser179Thr) c.255+1756T>A (n.255+1756T>A) c.337+443T>A (n.337+443T>A) c.448+443T>A (n.448+443T>A) c.505T>A c.583T>A (p.Ser195Thr) | |
15 | g.74893245T>C | CA393174626 | MPI | c.595T>C (p.Ser199Pro) c.487+443T>C (n.487+443T>C) c.445T>C (p.Ser149Pro) c.*491T>C (n.*491T>C) c.535T>C (p.Ser179Pro) c.255+1756T>C (n.255+1756T>C) c.337+443T>C (n.337+443T>C) c.448+443T>C (n.448+443T>C) c.505T>C c.583T>C (p.Ser195Pro) | |
15 | g.74893245T>G | CA393174627 | MPI | c.595T>G (p.Ser199Ala) c.487+443T>G (n.487+443T>G) c.445T>G (p.Ser149Ala) c.*491T>G (n.*491T>G) c.535T>G (p.Ser179Ala) c.255+1756T>G (n.255+1756T>G) c.337+443T>G (n.337+443T>G) c.448+443T>G (n.448+443T>G) c.505T>G c.583T>G (p.Ser195Ala) | |
15 | g.74893246C>A | CA393174628 | MPI | c.596C>A (p.Ser199Tyr) c.487+444C>A (n.487+444C>A) c.446C>A (p.Ser149Tyr) c.*492C>A (n.*492C>A) c.536C>A (p.Ser179Tyr) c.255+1757C>A (n.255+1757C>A) c.337+444C>A (n.337+444C>A) c.448+444C>A (n.448+444C>A) c.584C>A (p.Ser195Tyr) | |
15 | g.74893246C>G | CA393174629 | MPI | c.596C>G (p.Ser199Cys) c.487+444C>G (n.487+444C>G) c.446C>G (p.Ser149Cys) c.*492C>G (n.*492C>G) c.536C>G (p.Ser179Cys) c.255+1757C>G (n.255+1757C>G) c.337+444C>G (n.337+444C>G) c.448+444C>G (n.448+444C>G) c.584C>G (p.Ser195Cys) | |
15 | g.74893246C>T | CA393174630 | MPI | c.596C>T (p.Ser199Phe) c.487+444C>T (n.487+444C>T) c.446C>T (p.Ser149Phe) c.*492C>T (n.*492C>T) c.536C>T (p.Ser179Phe) c.255+1757C>T (n.255+1757C>T) c.337+444C>T (n.337+444C>T) c.448+444C>T (n.448+444C>T) c.584C>T (p.Ser195Phe) | |
15 | g.74893247C>A | CA491491318 | MPI | c.597C>A (p.Ser199=) c.487+445C>A (n.487+445C>A) c.447C>A (p.Ser149=) c.*493C>A (n.*493C>A) c.537C>A (p.Ser179=) c.255+1758C>A (n.255+1758C>A) c.337+445C>A (n.337+445C>A) c.448+445C>A (n.448+445C>A) c.585C>A (p.Ser195=) | |
15 | g.74893247C= | CA2187897311 | MPI | c.597C= (p.Ser199=) c.487+445C= (n.487+445C=) c.447C= (p.Ser149=) c.*493C= (n.*493C=) c.537C= (p.Ser179=) c.255+1758C= (n.255+1758C=) c.337+445C= (n.337+445C=) c.448+445C= (n.448+445C=) c.585C= (p.Ser195=) | |
15 | g.74893247C>G | CA491491319 | MPI | c.597C>G (p.Ser199=) c.487+445C>G (n.487+445C>G) c.447C>G (p.Ser149=) c.*493C>G (n.*493C>G) c.537C>G (p.Ser179=) c.255+1758C>G (n.255+1758C>G) c.337+445C>G (n.337+445C>G) c.448+445C>G (n.448+445C>G) c.585C>G (p.Ser195=) | |
15 | g.74893247C>T | CA491491320 | MPI | c.597C>T (p.Ser199=) c.487+445C>T (n.487+445C>T) c.447C>T (p.Ser149=) c.*493C>T (n.*493C>T) c.537C>T (p.Ser179=) c.255+1758C>T (n.255+1758C>T) c.337+445C>T (n.337+445C>T) c.448+445C>T (n.448+445C>T) c.585C>T (p.Ser195=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.74893248C>A | CA393174632 | MPI | c.598C>A (p.His200Asn) c.487+446C>A (n.487+446C>A) c.448C>A (p.His150Asn) c.*494C>A (n.*494C>A) c.538C>A (p.His180Asn) c.255+1759C>A (n.255+1759C>A) c.337+446C>A (n.337+446C>A) c.448+446C>A (n.448+446C>A) c.586C>A (p.His196Asn) | |
15 | g.74893248C>G | CA393174633 | MPI | c.598C>G (p.His200Asp) c.487+446C>G (n.487+446C>G) c.448C>G (p.His150Asp) c.*494C>G (n.*494C>G) c.538C>G (p.His180Asp) c.255+1759C>G (n.255+1759C>G) c.337+446C>G (n.337+446C>G) c.448+446C>G (n.448+446C>G) c.586C>G (p.His196Asp) | |
15 | g.74893248C>T | CA393174631 | MPI | c.598C>T (p.His200Tyr) c.487+446C>T (n.487+446C>T) c.448C>T (p.His150Tyr) c.*494C>T (n.*494C>T) c.538C>T (p.His180Tyr) c.255+1759C>T (n.255+1759C>T) c.337+446C>T (n.337+446C>T) c.448+446C>T (n.448+446C>T) c.586C>T (p.His196Tyr) | |
15 | g.74893249_74893250del | CA2629530469 | MPI | c.599_600del (p.His200ProfsTer5) c.487+447_487+448del (n.487+447_487+448del) c.449_450del (p.His150ProfsTer5) c.*495_*496del (n.*495_*496del) c.539_540del (p.His180ProfsTer5) c.255+1760_255+1761del (n.255+1760_255+1761del) c.337+447_337+448del (n.337+447_337+448del) c.448+447_448+448del (n.448+447_448+448del) c.587_588del (p.His196ProfsTer5) | gnomAD v4 |
15 | g.74893249A= | CA2187897314 | MPI | c.599A= (p.His200=) c.487+447A= (n.487+447A=) c.449A= (p.His150=) c.*495A= (n.*495A=) c.539A= (p.His180=) c.255+1760A= (n.255+1760A=) c.337+447A= (n.337+447A=) c.448+447A= (n.448+447A=) c.587A= (p.His196=) | |
15 | g.74893249A>C | CA393174634 | MPI | c.599A>C (p.His200Pro) c.487+447A>C (n.487+447A>C) c.449A>C (p.His150Pro) c.*495A>C (n.*495A>C) c.539A>C (p.His180Pro) c.255+1760A>C (n.255+1760A>C) c.337+447A>C (n.337+447A>C) c.448+447A>C (n.448+447A>C) c.587A>C (p.His196Pro) | |
15 | g.74893249A>G | CA7662466 | MPI | c.599A>G (p.His200Arg) c.487+447A>G (n.487+447A>G) c.449A>G (p.His150Arg) c.*495A>G (n.*495A>G) c.539A>G (p.His180Arg) c.255+1760A>G (n.255+1760A>G) c.337+447A>G (n.337+447A>G) c.448+447A>G (n.448+447A>G) c.587A>G (p.His196Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.74893249A>T | CA393174635 | MPI | c.599A>T (p.His200Leu) c.487+447A>T (n.487+447A>T) c.449A>T (p.His150Leu) c.*495A>T (n.*495A>T) c.539A>T (p.His180Leu) c.255+1760A>T (n.255+1760A>T) c.337+447A>T (n.337+447A>T) c.448+447A>T (n.448+447A>T) c.587A>T (p.His196Leu) | gnomAD v4 |
15 | g.74893249_74893258del | CA2575791692 | MPI | c.599_608del (p.His200ArgfsTer15) c.487+447_487+456del (n.487+447_487+456del) c.449_458del (p.His150ArgfsTer15) c.*495_*504del (n.*495_*504del) c.539_548del (p.His180ArgfsTer15) c.255+1760_255+1769del (n.255+1760_255+1769del) c.337+447_337+456del (n.337+447_337+456del) c.448+447_448+456del (n.448+447_448+456del) c.587_596del (p.His196ArgfsTer15) | |
15 | g.74893250C>A | CA7662467 | MPI | c.600C>A (p.His200Gln) c.487+448C>A (n.487+448C>A) c.450C>A (p.His150Gln) c.*496C>A (n.*496C>A) c.540C>A (p.His180Gln) c.255+1761C>A (n.255+1761C>A) c.337+448C>A (n.337+448C>A) c.448+448C>A (n.448+448C>A) c.588C>A (p.His196Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.74893250C= | CA2187897318 | MPI | c.600C= (p.His200=) c.487+448C= (n.487+448C=) c.450C= (p.His150=) c.*496C= (n.*496C=) c.540C= (p.His180=) c.255+1761C= (n.255+1761C=) c.337+448C= (n.337+448C=) c.448+448C= (n.448+448C=) c.588C= (p.His196=) | |
15 | g.74893250C>G | CA393174636 | MPI | c.600C>G (p.His200Gln) c.487+448C>G (n.487+448C>G) c.450C>G (p.His150Gln) c.*496C>G (n.*496C>G) c.540C>G (p.His180Gln) c.255+1761C>G (n.255+1761C>G) c.337+448C>G (n.337+448C>G) c.448+448C>G (n.448+448C>G) c.588C>G (p.His196Gln) | |
15 | g.74893250C>T | CA491491321 | MPI | c.600C>T (p.His200=) c.487+448C>T (n.487+448C>T) c.450C>T (p.His150=) c.*496C>T (n.*496C>T) c.540C>T (p.His180=) c.255+1761C>T (n.255+1761C>T) c.337+448C>T (n.337+448C>T) c.448+448C>T (n.448+448C>T) c.588C>T (p.His196=) | gnomAD v4 |
15 | g.74893251C>A | CA393174637 | MPI | c.601C>A (p.Leu201Met) c.487+449C>A (n.487+449C>A) c.451C>A (p.Leu151Met) c.*497C>A (n.*497C>A) c.541C>A (p.Leu181Met) c.255+1762C>A (n.255+1762C>A) c.337+449C>A (n.337+449C>A) c.448+449C>A (n.448+449C>A) c.589C>A (p.Leu197Met) | |
15 | g.74893251C>G | CA393174638 | MPI | c.601C>G (p.Leu201Val) c.487+449C>G (n.487+449C>G) c.451C>G (p.Leu151Val) c.*497C>G (n.*497C>G) c.541C>G (p.Leu181Val) c.255+1762C>G (n.255+1762C>G) c.337+449C>G (n.337+449C>G) c.448+449C>G (n.448+449C>G) c.589C>G (p.Leu197Val) | |
15 | g.74893251C>T | CA491491322 | MPI | c.601C>T (p.Leu201=) c.487+449C>T (n.487+449C>T) c.451C>T (p.Leu151=) c.*497C>T (n.*497C>T) c.541C>T (p.Leu181=) c.255+1762C>T (n.255+1762C>T) c.337+449C>T (n.337+449C>T) c.448+449C>T (n.448+449C>T) c.589C>T (p.Leu197=) | |
15 | g.74893252T>A | CA393174639 | MPI | c.602T>A (p.Leu201Gln) c.487+450T>A (n.487+450T>A) c.452T>A (p.Leu151Gln) c.*498T>A (n.*498T>A) c.542T>A (p.Leu181Gln) c.255+1763T>A (n.255+1763T>A) c.337+450T>A (n.337+450T>A) c.448+450T>A (n.448+450T>A) c.590T>A (p.Leu197Gln) | |
15 | g.74893252T>C | CA393174641 | MPI | c.602T>C (p.Leu201Pro) c.487+450T>C (n.487+450T>C) c.452T>C (p.Leu151Pro) c.*498T>C (n.*498T>C) c.542T>C (p.Leu181Pro) c.255+1763T>C (n.255+1763T>C) c.337+450T>C (n.337+450T>C) c.448+450T>C (n.448+450T>C) c.590T>C (p.Leu197Pro) | ClinVar dbSNP |
15 | g.74893252T>G | CA393174640 | MPI | c.602T>G (p.Leu201Arg) c.487+450T>G (n.487+450T>G) c.452T>G (p.Leu151Arg) c.*498T>G (n.*498T>G) c.542T>G (p.Leu181Arg) c.255+1763T>G (n.255+1763T>G) c.337+450T>G (n.337+450T>G) c.448+450T>G (n.448+450T>G) c.590T>G (p.Leu197Arg) | dbSNP |
15 | g.74893252T= | CA2187897322 | MPI | c.602T= (p.Leu201=) c.487+450T= (n.487+450T=) c.452T= (p.Leu151=) c.*498T= (n.*498T=) c.542T= (p.Leu181=) c.255+1763T= (n.255+1763T=) c.337+450T= (n.337+450T=) c.448+450T= (n.448+450T=) c.590T= (p.Leu197=) | |
15 | g.74893253G>A | CA491491324 | MPI | c.603G>A (p.Leu201=) c.487+451G>A (n.487+451G>A) c.453G>A (p.Leu151=) c.*499G>A (n.*499G>A) c.543G>A (p.Leu181=) c.255+1764G>A (n.255+1764G>A) c.337+451G>A (n.337+451G>A) c.448+451G>A (n.448+451G>A) c.591G>A (p.Leu197=) | |
15 | g.74893253G>C | CA7662468 | MPI | c.603G>C (p.Leu201=) c.487+451G>C (n.487+451G>C) c.453G>C (p.Leu151=) c.*499G>C (n.*499G>C) c.543G>C (p.Leu181=) c.255+1764G>C (n.255+1764G>C) c.337+451G>C (n.337+451G>C) c.448+451G>C (n.448+451G>C) c.591G>C (p.Leu197=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.74893253G= | CA2187897326 | MPI | c.603G= (p.Leu201=) c.487+451G= (n.487+451G=) c.453G= (p.Leu151=) c.*499G= (n.*499G=) c.543G= (p.Leu181=) c.255+1764G= (n.255+1764G=) c.337+451G= (n.337+451G=) c.448+451G= (n.448+451G=) c.591G= (p.Leu197=) | |
15 | g.74893253G>T | CA491491323 | MPI | c.603G>T (p.Leu201=) c.487+451G>T (n.487+451G>T) c.453G>T (p.Leu151=) c.*499G>T (n.*499G>T) c.543G>T (p.Leu181=) c.255+1764G>T (n.255+1764G>T) c.337+451G>T (n.337+451G>T) c.448+451G>T (n.448+451G>T) c.591G>T (p.Leu197=) | |
15 | g.74893254A>C | CA393174642 | MPI | c.604A>C (p.Met202Leu) c.487+452A>C (n.487+452A>C) c.454A>C (p.Met152Leu) c.*500A>C (n.*500A>C) c.544A>C (p.Met182Leu) c.255+1765A>C (n.255+1765A>C) c.337+452A>C (n.337+452A>C) c.448+452A>C (n.448+452A>C) c.592A>C (p.Met198Leu) | |
15 | g.74893254A>G | CA393174643 | MPI | c.604A>G (p.Met202Val) c.487+452A>G (n.487+452A>G) c.454A>G (p.Met152Val) c.*500A>G (n.*500A>G) c.544A>G (p.Met182Val) c.255+1765A>G (n.255+1765A>G) c.337+452A>G (n.337+452A>G) c.448+452A>G (n.448+452A>G) c.592A>G (p.Met198Val) | |
15 | g.74893254A>T | CA393174644 | MPI | c.604A>T (p.Met202Leu) c.487+452A>T (n.487+452A>T) c.454A>T (p.Met152Leu) c.*500A>T (n.*500A>T) c.544A>T (p.Met182Leu) c.255+1765A>T (n.255+1765A>T) c.337+452A>T (n.337+452A>T) c.448+452A>T (n.448+452A>T) c.592A>T (p.Met198Leu) | |
15 | g.74893255T>A | CA393174645 | MPI | c.605T>A (p.Met202Lys) c.487+453T>A (n.487+453T>A) c.455T>A (p.Met152Lys) c.*501T>A (n.*501T>A) c.545T>A (p.Met182Lys) c.255+1766T>A (n.255+1766T>A) c.337+453T>A (n.337+453T>A) c.448+453T>A (n.448+453T>A) c.593T>A (p.Met198Lys) | |
15 | g.74893255T>C | CA393174647 | MPI | c.605T>C (p.Met202Thr) c.487+453T>C (n.487+453T>C) c.455T>C (p.Met152Thr) c.*501T>C (n.*501T>C) c.545T>C (p.Met182Thr) c.255+1766T>C (n.255+1766T>C) c.337+453T>C (n.337+453T>C) c.448+453T>C (n.448+453T>C) c.593T>C (p.Met198Thr) | |
15 | g.74893255T>G | CA393174646 | MPI | c.605T>G (p.Met202Arg) c.487+453T>G (n.487+453T>G) c.455T>G (p.Met152Arg) c.*501T>G (n.*501T>G) c.545T>G (p.Met182Arg) c.255+1766T>G (n.255+1766T>G) c.337+453T>G (n.337+453T>G) c.448+453T>G (n.448+453T>G) c.593T>G (p.Met198Arg) | dbSNP gnomAD v4 |
15 | g.74893255T= | CA2187897329 | MPI | c.605T= (p.Met202=) c.487+453T= (n.487+453T=) c.455T= (p.Met152=) c.*501T= (n.*501T=) c.545T= (p.Met182=) c.255+1766T= (n.255+1766T=) c.337+453T= (n.337+453T=) c.448+453T= (n.448+453T=) c.593T= (p.Met198=) | |
15 | g.74893256G>A | CA393174648 | MPI | c.606G>A (p.Met202Ile) c.487+454G>A (n.487+454G>A) c.456G>A (p.Met152Ile) c.*502G>A (n.*502G>A) c.546G>A (p.Met182Ile) c.255+1767G>A (n.255+1767G>A) c.337+454G>A (n.337+454G>A) c.448+454G>A (n.448+454G>A) c.594G>A (p.Met198Ile) | |
15 | g.74893256G>C | CA393174649 | MPI | c.606G>C (p.Met202Ile) c.487+454G>C (n.487+454G>C) c.456G>C (p.Met152Ile) c.*502G>C (n.*502G>C) c.546G>C (p.Met182Ile) c.255+1767G>C (n.255+1767G>C) c.337+454G>C (n.337+454G>C) c.448+454G>C (n.448+454G>C) c.594G>C (p.Met198Ile) | |
15 | g.74893256G>T | CA393174650 | MPI | c.606G>T (p.Met202Ile) c.487+454G>T (n.487+454G>T) c.456G>T (p.Met152Ile) c.*502G>T (n.*502G>T) c.546G>T (p.Met182Ile) c.255+1767G>T (n.255+1767G>T) c.337+454G>T (n.337+454G>T) c.448+454G>T (n.448+454G>T) c.594G>T (p.Met198Ile) | |
15 | g.74893257A>C | CA393174651 | MPI | c.607A>C (p.Lys203Gln) c.487+455A>C (n.487+455A>C) c.457A>C (p.Lys153Gln) c.*503A>C (n.*503A>C) c.547A>C (p.Lys183Gln) c.255+1768A>C (n.255+1768A>C) c.337+455A>C (n.337+455A>C) c.448+455A>C (n.448+455A>C) c.595A>C (p.Lys199Gln) | |
15 | g.74893257A>G | CA393174652 | MPI | c.607A>G (p.Lys203Glu) c.487+455A>G (n.487+455A>G) c.457A>G (p.Lys153Glu) c.*503A>G (n.*503A>G) c.547A>G (p.Lys183Glu) c.255+1768A>G (n.255+1768A>G) c.337+455A>G (n.337+455A>G) c.448+455A>G (n.448+455A>G) c.595A>G (p.Lys199Glu) | gnomAD v4 |
15 | g.74893257A>T | CA393174653 | MPI | c.607A>T (p.Lys203Ter) c.487+455A>T (n.487+455A>T) c.457A>T (p.Lys153Ter) c.*503A>T (n.*503A>T) c.547A>T (p.Lys183Ter) c.255+1768A>T (n.255+1768A>T) c.337+455A>T (n.337+455A>T) c.448+455A>T (n.448+455A>T) c.595A>T (p.Lys199Ter) | |
15 | g.74893258A>C | CA393174654 | MPI | c.608A>C (p.Lys203Thr) c.487+456A>C (n.487+456A>C) c.458A>C (p.Lys153Thr) c.*504A>C (n.*504A>C) c.548A>C (p.Lys183Thr) c.255+1769A>C (n.255+1769A>C) c.337+456A>C (n.337+456A>C) c.448+456A>C (n.448+456A>C) c.596A>C (p.Lys199Thr) | |
15 | g.74893258A>G | CA393174655 | MPI | c.608A>G (p.Lys203Arg) c.487+456A>G (n.487+456A>G) c.458A>G (p.Lys153Arg) c.*504A>G (n.*504A>G) c.548A>G (p.Lys183Arg) c.255+1769A>G (n.255+1769A>G) c.337+456A>G (n.337+456A>G) c.448+456A>G (n.448+456A>G) c.596A>G (p.Lys199Arg) | |
15 | g.74893258A>T | CA393174656 | MPI | c.608A>T (p.Lys203Met) c.487+456A>T (n.487+456A>T) c.458A>T (p.Lys153Met) c.*504A>T (n.*504A>T) c.548A>T (p.Lys183Met) c.255+1769A>T (n.255+1769A>T) c.337+456A>T (n.337+456A>T) c.448+456A>T (n.448+456A>T) c.596A>T (p.Lys199Met) | |
15 | g.74893259G>A | CA491491325 | MPI | c.609G>A (p.Lys203=) c.487+457G>A (n.487+457G>A) c.459G>A (p.Lys153=) c.*505G>A (n.*505G>A) c.549G>A (p.Lys183=) c.255+1770G>A (n.255+1770G>A) c.337+457G>A (n.337+457G>A) c.448+457G>A (n.448+457G>A) c.597G>A (p.Lys199=) | |
15 | g.74893259G>C | CA393174657 | MPI | c.609G>C (p.Lys203Asn) c.487+457G>C (n.487+457G>C) c.459G>C (p.Lys153Asn) c.*505G>C (n.*505G>C) c.549G>C (p.Lys183Asn) c.255+1770G>C (n.255+1770G>C) c.337+457G>C (n.337+457G>C) c.448+457G>C (n.448+457G>C) c.597G>C (p.Lys199Asn) | |
15 | g.74893259G= | CA2187897335 | MPI | c.609G= (p.Lys203=) c.487+457G= (n.487+457G=) c.459G= (p.Lys153=) c.*505G= (n.*505G=) c.549G= (p.Lys183=) c.255+1770G= (n.255+1770G=) c.337+457G= (n.337+457G=) c.448+457G= (n.448+457G=) c.597G= (p.Lys199=) | |
15 | g.74893259G>T | CA7662469 | MPI | c.609G>T (p.Lys203Asn) c.487+457G>T (n.487+457G>T) c.459G>T (p.Lys153Asn) c.*505G>T (n.*505G>T) c.549G>T (p.Lys183Asn) c.255+1770G>T (n.255+1770G>T) c.337+457G>T (n.337+457G>T) c.448+457G>T (n.448+457G>T) c.597G>T (p.Lys199Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.74893262_74893265del | CA2697549218 | MPI | c.612_615del (p.Ser204ArgfsTer13) c.487+460_487+463del (n.487+460_487+463del) c.462_465del (p.Ser154ArgfsTer13) c.*508_*511del (n.*508_*511del) c.552_555del (p.Ser184ArgfsTer13) c.255+1773_255+1776del (n.255+1773_255+1776del) c.337+460_337+463del (n.337+460_337+463del) c.448+460_448+463del (n.448+460_448+463del) c.600_603del (p.Ser200ArgfsTer13) | ClinVar |
15 | g.74893260A>C | CA393174660 | MPI | c.610A>C (p.Ser204Arg) c.487+458A>C (n.487+458A>C) c.460A>C (p.Ser154Arg) c.*506A>C (n.*506A>C) c.550A>C (p.Ser184Arg) c.255+1771A>C (n.255+1771A>C) c.337+458A>C (n.337+458A>C) c.448+458A>C (n.448+458A>C) c.598A>C (p.Ser200Arg) | |
15 | g.74893260A>G | CA393174659 | MPI | c.610A>G (p.Ser204Gly) c.487+458A>G (n.487+458A>G) c.460A>G (p.Ser154Gly) c.*506A>G (n.*506A>G) c.550A>G (p.Ser184Gly) c.255+1771A>G (n.255+1771A>G) c.337+458A>G (n.337+458A>G) c.448+458A>G (n.448+458A>G) c.598A>G (p.Ser200Gly) | |
15 | g.74893260A>T | CA393174658 | MPI | c.610A>T (p.Ser204Cys) c.487+458A>T (n.487+458A>T) c.460A>T (p.Ser154Cys) c.*506A>T (n.*506A>T) c.550A>T (p.Ser184Cys) c.255+1771A>T (n.255+1771A>T) c.337+458A>T (n.337+458A>T) c.448+458A>T (n.448+458A>T) c.598A>T (p.Ser200Cys) | |
15 | g.74893261G>A | CA7662471 | MPI | c.611G>A (p.Ser204Asn) c.487+459G>A (n.487+459G>A) c.461G>A (p.Ser154Asn) c.*507G>A (n.*507G>A) c.551G>A (p.Ser184Asn) c.255+1772G>A (n.255+1772G>A) c.337+459G>A (n.337+459G>A) c.448+459G>A (n.448+459G>A) c.599G>A (p.Ser200Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.74893261G>C | CA393174661 | MPI | c.611G>C (p.Ser204Thr) c.487+459G>C (n.487+459G>C) c.461G>C (p.Ser154Thr) c.*507G>C (n.*507G>C) c.551G>C (p.Ser184Thr) c.255+1772G>C (n.255+1772G>C) c.337+459G>C (n.337+459G>C) c.448+459G>C (n.448+459G>C) c.599G>C (p.Ser200Thr) | |
15 | g.74893261G= | CA2187897337 | MPI | c.611G= (p.Ser204=) c.487+459G= (n.487+459G=) c.461G= (p.Ser154=) c.*507G= (n.*507G=) c.551G= (p.Ser184=) c.255+1772G= (n.255+1772G=) c.337+459G= (n.337+459G=) c.448+459G= (n.448+459G=) c.599G= (p.Ser200=) | |
15 | g.74893261G>T | CA7662470 | MPI | c.611G>T (p.Ser204Ile) c.487+459G>T (n.487+459G>T) c.461G>T (p.Ser154Ile) c.*507G>T (n.*507G>T) c.551G>T (p.Ser184Ile) c.255+1772G>T (n.255+1772G>T) c.337+459G>T (n.337+459G>T) c.448+459G>T (n.448+459G>T) c.599G>T (p.Ser200Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.74893262T>A | CA393174662 | MPI | c.612T>A (p.Ser204Arg) c.487+460T>A (n.487+460T>A) c.462T>A (p.Ser154Arg) c.*508T>A (n.*508T>A) c.552T>A (p.Ser184Arg) c.255+1773T>A (n.255+1773T>A) c.337+460T>A (n.337+460T>A) c.448+460T>A (n.448+460T>A) c.600T>A (p.Ser200Arg) | |
15 | g.74893262T>C | CA491491326 | MPI | c.612T>C (p.Ser204=) c.487+460T>C (n.487+460T>C) c.462T>C (p.Ser154=) c.*508T>C (n.*508T>C) c.552T>C (p.Ser184=) c.255+1773T>C (n.255+1773T>C) c.337+460T>C (n.337+460T>C) c.448+460T>C (n.448+460T>C) c.600T>C (p.Ser200=) | |
15 | g.74893262T>G | CA10605239 | MPI | c.612T>G (p.Ser204Arg) c.487+460T>G (n.487+460T>G) c.462T>G (p.Ser154Arg) c.*508T>G (n.*508T>G) c.552T>G (p.Ser184Arg) c.255+1773T>G (n.255+1773T>G) c.337+460T>G (n.337+460T>G) c.448+460T>G (n.448+460T>G) c.600T>G (p.Ser200Arg) | ClinVar dbSNP |
15 | g.74893262T= | CA2187897341 | MPI | c.612T= (p.Ser204=) c.487+460T= (n.487+460T=) c.462T= (p.Ser154=) c.*508T= (n.*508T=) c.552T= (p.Ser184=) c.255+1773T= (n.255+1773T=) c.337+460T= (n.337+460T=) c.448+460T= (n.448+460T=) c.600T= (p.Ser200=) | |
15 | g.74893263G>A | CA393174663 | MPI | c.613G>A (p.Glu205Lys) c.487+461G>A (n.487+461G>A) c.463G>A (p.Glu155Lys) c.*509G>A (n.*509G>A) c.553G>A (p.Glu185Lys) c.255+1774G>A (n.255+1774G>A) c.337+461G>A (n.337+461G>A) c.448+461G>A (n.448+461G>A) c.601G>A (p.Glu201Lys) | gnomAD v4 |
15 | g.74893263G>C | CA393174664 | MPI | c.613G>C (p.Glu205Gln) c.487+461G>C (n.487+461G>C) c.463G>C (p.Glu155Gln) c.*509G>C (n.*509G>C) c.553G>C (p.Glu185Gln) c.255+1774G>C (n.255+1774G>C) c.337+461G>C (n.337+461G>C) c.448+461G>C (n.448+461G>C) c.601G>C (p.Glu201Gln) | |
15 | g.74893263G>T | CA393174665 | MPI | c.613G>T (p.Glu205Ter) c.487+461G>T (n.487+461G>T) c.463G>T (p.Glu155Ter) c.*509G>T (n.*509G>T) c.553G>T (p.Glu185Ter) c.255+1774G>T (n.255+1774G>T) c.337+461G>T (n.337+461G>T) c.448+461G>T (n.448+461G>T) c.601G>T (p.Glu201Ter) | ClinVar gnomAD v4 |
15 | g.74893263_74893266delinsGAGA | CA2187897344 | MPI | c.613_616delinsGAGA (p.Glu205=) c.487+461_487+464delinsGAGA (n.487+461_487+464delinsGAGA) c.463_466delinsGAGA (p.Glu155=) c.*509_*512delinsGAGA (n.*509_*512delinsGAGA) c.553_556delinsGAGA (p.Glu185=) c.255+1774_255+1777delinsGAGA (n.255+1774_255+1777delinsGAGA) c.337+461_337+464delinsGAGA (n.337+461_337+464delinsGAGA) c.448+461_448+464delinsGAGA (n.448+461_448+464delinsGAGA) c.601_604delinsGAGA (p.Glu201=) | |
15 | g.74893264A>C | CA393174666 | MPI | c.614A>C (p.Glu205Ala) c.487+462A>C (n.487+462A>C) c.464A>C (p.Glu155Ala) c.*510A>C (n.*510A>C) c.554A>C (p.Glu185Ala) c.255+1775A>C (n.255+1775A>C) c.337+462A>C (n.337+462A>C) c.448+462A>C (n.448+462A>C) c.602A>C (p.Glu201Ala) | |
15 | g.74893264A>G | CA393174667 | MPI | c.614A>G (p.Glu205Gly) c.487+462A>G (n.487+462A>G) c.464A>G (p.Glu155Gly) c.*510A>G (n.*510A>G) c.554A>G (p.Glu185Gly) c.255+1775A>G (n.255+1775A>G) c.337+462A>G (n.337+462A>G) c.448+462A>G (n.448+462A>G) c.602A>G (p.Glu201Gly) | |
15 | g.74893264A>T | CA393174668 | MPI | c.614A>T (p.Glu205Val) c.487+462A>T (n.487+462A>T) c.464A>T (p.Glu155Val) c.*510A>T (n.*510A>T) c.554A>T (p.Glu185Val) c.255+1775A>T (n.255+1775A>T) c.337+462A>T (n.337+462A>T) c.448+462A>T (n.448+462A>T) c.602A>T (p.Glu201Val) | |
15 | g.74893269_74893271del | CA7662472 | MPI | c.619_621del (p.Lys207del) c.487+467_487+469del (n.487+467_487+469del) c.469_471del (p.Lys157del) c.*515_*517del (n.*515_*517del) c.559_561del (p.Lys187del) c.255+1780_255+1782del (n.255+1780_255+1782del) c.337+467_337+469del (n.337+467_337+469del) c.448+467_448+469del (n.448+467_448+469del) c.607_609del (p.Lys203del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.74893265G>A | CA491491327 | MPI | c.615G>A (p.Glu205=) c.487+463G>A (n.487+463G>A) c.465G>A (p.Glu155=) c.*511G>A (n.*511G>A) c.555G>A (p.Glu185=) c.255+1776G>A (n.255+1776G>A) c.337+463G>A (n.337+463G>A) c.448+463G>A (n.448+463G>A) c.603G>A (p.Glu201=) | |
15 | g.74893265G>C | CA393174669 | MPI | c.615G>C (p.Glu205Asp) c.487+463G>C (n.487+463G>C) c.465G>C (p.Glu155Asp) c.*511G>C (n.*511G>C) c.555G>C (p.Glu185Asp) c.255+1776G>C (n.255+1776G>C) c.337+463G>C (n.337+463G>C) c.448+463G>C (n.448+463G>C) c.603G>C (p.Glu201Asp) | |
15 | g.74893265G= | CA2187897350 | MPI | c.615G= (p.Glu205=) c.487+463G= (n.487+463G=) c.465G= (p.Glu155=) c.*511G= (n.*511G=) c.555G= (p.Glu185=) c.255+1776G= (n.255+1776G=) c.337+463G= (n.337+463G=) c.448+463G= (n.448+463G=) c.603G= (p.Glu201=) | |
15 | g.74893265G>T | CA393174670 | MPI | c.615G>T (p.Glu205Asp) c.487+463G>T (n.487+463G>T) c.465G>T (p.Glu155Asp) c.*511G>T (n.*511G>T) c.555G>T (p.Glu185Asp) c.255+1776G>T (n.255+1776G>T) c.337+463G>T (n.337+463G>T) c.448+463G>T (n.448+463G>T) c.603G>T (p.Glu201Asp) | dbSNP gnomAD v4 |
15 | g.74893266A>C | CA393174671 | MPI | c.616A>C (p.Lys206Gln) c.487+464A>C (n.487+464A>C) c.466A>C (p.Lys156Gln) c.*512A>C (n.*512A>C) c.556A>C (p.Lys186Gln) c.255+1777A>C (n.255+1777A>C) c.337+464A>C (n.337+464A>C) c.448+464A>C (n.448+464A>C) c.604A>C (p.Lys202Gln) | |
15 | g.74893266A>G | CA393174672 | MPI | c.616A>G (p.Lys206Glu) c.487+464A>G (n.487+464A>G) c.466A>G (p.Lys156Glu) c.*512A>G (n.*512A>G) c.556A>G (p.Lys186Glu) c.255+1777A>G (n.255+1777A>G) c.337+464A>G (n.337+464A>G) c.448+464A>G (n.448+464A>G) c.604A>G (p.Lys202Glu) | |
15 | g.74893266A>T | CA393174673 | MPI | c.616A>T (p.Lys206Ter) c.487+464A>T (n.487+464A>T) c.466A>T (p.Lys156Ter) c.*512A>T (n.*512A>T) c.556A>T (p.Lys186Ter) c.255+1777A>T (n.255+1777A>T) c.337+464A>T (n.337+464A>T) c.448+464A>T (n.448+464A>T) c.604A>T (p.Lys202Ter) | |
15 | g.74893267A>C | CA393174676 | MPI | c.617A>C (p.Lys206Thr) c.487+465A>C (n.487+465A>C) c.467A>C (p.Lys156Thr) c.*513A>C (n.*513A>C) c.557A>C (p.Lys186Thr) c.255+1778A>C (n.255+1778A>C) c.337+465A>C (n.337+465A>C) c.448+465A>C (n.448+465A>C) c.605A>C (p.Lys202Thr) | gnomAD v4 |
15 | g.74893267A>G | CA393174674 | MPI | c.617A>G (p.Lys206Arg) c.487+465A>G (n.487+465A>G) c.467A>G (p.Lys156Arg) c.*513A>G (n.*513A>G) c.557A>G (p.Lys186Arg) c.255+1778A>G (n.255+1778A>G) c.337+465A>G (n.337+465A>G) c.448+465A>G (n.448+465A>G) c.605A>G (p.Lys202Arg) | |
15 | g.74893267A>T | CA393174675 | MPI | c.617A>T (p.Lys206Met) c.487+465A>T (n.487+465A>T) c.467A>T (p.Lys156Met) c.*513A>T (n.*513A>T) c.557A>T (p.Lys186Met) c.255+1778A>T (n.255+1778A>T) c.337+465A>T (n.337+465A>T) c.448+465A>T (n.448+465A>T) c.605A>T (p.Lys202Met) | |
15 | g.74893268G>A | CA7662473 | MPI | c.618G>A (p.Lys206=) c.487+466G>A (n.487+466G>A) c.468G>A (p.Lys156=) c.*514G>A (n.*514G>A) c.558G>A (p.Lys186=) c.255+1779G>A (n.255+1779G>A) c.337+466G>A (n.337+466G>A) c.448+466G>A (n.448+466G>A) c.606G>A (p.Lys202=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.74893268G>C | CA393174677 | MPI | c.618G>C (p.Lys206Asn) c.487+466G>C (n.487+466G>C) c.468G>C (p.Lys156Asn) c.*514G>C (n.*514G>C) c.558G>C (p.Lys186Asn) c.255+1779G>C (n.255+1779G>C) c.337+466G>C (n.337+466G>C) c.448+466G>C (n.448+466G>C) c.606G>C (p.Lys202Asn) | |
15 | g.74893268G= | CA2187897353 | MPI | c.618G= (p.Lys206=) c.487+466G= (n.487+466G=) c.468G= (p.Lys156=) c.*514G= (n.*514G=) c.558G= (p.Lys186=) c.255+1779G= (n.255+1779G=) c.337+466G= (n.337+466G=) c.448+466G= (n.448+466G=) c.606G= (p.Lys202=) | |
15 | g.74893268G>T | CA393174678 | MPI | c.618G>T (p.Lys206Asn) c.487+466G>T (n.487+466G>T) c.468G>T (p.Lys156Asn) c.*514G>T (n.*514G>T) c.558G>T (p.Lys186Asn) c.255+1779G>T (n.255+1779G>T) c.337+466G>T (n.337+466G>T) c.448+466G>T (n.448+466G>T) c.606G>T (p.Lys202Asn) | |
15 | g.74893269A= | CA2187897359 | MPI | c.619A= (p.Lys207=) c.487+467A= (n.487+467A=) c.469A= (p.Lys157=) c.*515A= (n.*515A=) c.559A= (p.Lys187=) c.255+1780A= (n.255+1780A=) c.337+467A= (n.337+467A=) c.448+467A= (n.448+467A=) c.607A= (p.Lys203=) | |
15 | g.74893269A>C | CA393174679 | MPI | c.619A>C (p.Lys207Gln) c.487+467A>C (n.487+467A>C) c.469A>C (p.Lys157Gln) c.*515A>C (n.*515A>C) c.559A>C (p.Lys187Gln) c.255+1780A>C (n.255+1780A>C) c.337+467A>C (n.337+467A>C) c.448+467A>C (n.448+467A>C) c.607A>C (p.Lys203Gln) | |
15 | g.74893269A>G | CA7662474 | MPI | c.619A>G (p.Lys207Glu) c.487+467A>G (n.487+467A>G) c.469A>G (p.Lys157Glu) c.*515A>G (n.*515A>G) c.559A>G (p.Lys187Glu) c.255+1780A>G (n.255+1780A>G) c.337+467A>G (n.337+467A>G) c.448+467A>G (n.448+467A>G) c.607A>G (p.Lys203Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.74893269A>T | CA393174680 | MPI | c.619A>T (p.Lys207Ter) c.487+467A>T (n.487+467A>T) c.469A>T (p.Lys157Ter) c.*515A>T (n.*515A>T) c.559A>T (p.Lys187Ter) c.255+1780A>T (n.255+1780A>T) c.337+467A>T (n.337+467A>T) c.448+467A>T (n.448+467A>T) c.607A>T (p.Lys203Ter) | |
15 | g.74893270A= | CA2187897363 | MPI | c.620A= (p.Lys207=) c.487+468A= (n.487+468A=) c.470A= (p.Lys157=) c.*516A= (n.*516A=) c.560A= (p.Lys187=) c.255+1781A= (n.255+1781A=) c.337+468A= (n.337+468A=) c.448+468A= (n.448+468A=) c.608A= (p.Lys203=) | |
15 | g.74893270A>C | CA393174681 | MPI | c.620A>C (p.Lys207Thr) c.487+468A>C (n.487+468A>C) c.470A>C (p.Lys157Thr) c.*516A>C (n.*516A>C) c.560A>C (p.Lys187Thr) c.255+1781A>C (n.255+1781A>C) c.337+468A>C (n.337+468A>C) c.448+468A>C (n.448+468A>C) c.608A>C (p.Lys203Thr) | |
15 | g.74893270A>G | CA393174682 | MPI | c.620A>G (p.Lys207Arg) c.487+468A>G (n.487+468A>G) c.470A>G (p.Lys157Arg) c.*516A>G (n.*516A>G) c.560A>G (p.Lys187Arg) c.255+1781A>G (n.255+1781A>G) c.337+468A>G (n.337+468A>G) c.448+468A>G (n.448+468A>G) c.608A>G (p.Lys203Arg) | |
15 | g.74893270A>T | CA7662475 | MPI | c.620A>T (p.Lys207Met) c.487+468A>T (n.487+468A>T) c.470A>T (p.Lys157Met) c.*516A>T (n.*516A>T) c.560A>T (p.Lys187Met) c.255+1781A>T (n.255+1781A>T) c.337+468A>T (n.337+468A>T) c.448+468A>T (n.448+468A>T) c.608A>T (p.Lys203Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.74893270_74893273delinsAGGT | CA2187897364 | MPI | c.620_623delinsAGGT (p.Lys207=) c.487+468_487+471delinsAGGT (n.487+468_487+471delinsAGGT) c.470_473delinsAGGT (p.Lys157=) c.*516_*519delinsAGGT (n.*516_*519delinsAGGT) c.560_563delinsAGGT (p.Lys187=) c.255+1781_255+1784delinsAGGT (n.255+1781_255+1784delinsAGGT) c.337+468_337+471delinsAGGT (n.337+468_337+471delinsAGGT) c.448+468_448+471delinsAGGT (n.448+468_448+471delinsAGGT) c.608_611delinsAGGT (p.Lys203=) | |
15 | g.74893271G>A | CA491491328 | MPI | c.621G>A (p.Lys207=) c.487+469G>A (n.487+469G>A) c.471G>A (p.Lys157=) c.*517G>A (n.*517G>A) c.561G>A (p.Lys187=) c.255+1782G>A (n.255+1782G>A) c.337+469G>A (n.337+469G>A) c.448+469G>A (n.448+469G>A) c.609G>A (p.Lys203=) | |
15 | g.74893271G>C | CA393174683 | MPI | c.621G>C (p.Lys207Asn) c.487+469G>C (n.487+469G>C) c.471G>C (p.Lys157Asn) c.*517G>C (n.*517G>C) c.561G>C (p.Lys187Asn) c.255+1782G>C (n.255+1782G>C) c.337+469G>C (n.337+469G>C) c.448+469G>C (n.448+469G>C) c.609G>C (p.Lys203Asn) | |
15 | g.74893271G>T | CA393174684 | MPI | c.621G>T (p.Lys207Asn) c.487+469G>T (n.487+469G>T) c.471G>T (p.Lys157Asn) c.*517G>T (n.*517G>T) c.561G>T (p.Lys187Asn) c.255+1782G>T (n.255+1782G>T) c.337+469G>T (n.337+469G>T) c.448+469G>T (n.448+469G>T) c.609G>T (p.Lys203Asn) | |
15 | g.74893279_74893281del | CA619413234 | MPI | c.629_631del (p.Val210del) c.487+477_487+479del (n.487+477_487+479del) c.479_481del (p.Val160del) c.*525_*527del (n.*525_*527del) c.569_571del (p.Val190del) c.255+1790_255+1792del (n.255+1790_255+1792del) c.337+477_337+479del (n.337+477_337+479del) c.448+477_448+479del (n.448+477_448+479del) c.617_619del (p.Val206del) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.74893276_74893281del | CA2629530513 | MPI | c.626_631del (p.Val209_Val210del) c.487+474_487+479del (n.487+474_487+479del) c.476_481del (p.Val159_Val160del) c.*522_*527del (n.*522_*527del) c.566_571del (p.Val189_Val190del) c.255+1787_255+1792del (n.255+1787_255+1792del) c.337+474_337+479del (n.337+474_337+479del) c.448+474_448+479del (n.448+474_448+479del) c.614_619del (p.Val205_Val206del) | gnomAD v4 |
15 | g.74893272G>A | CA393174688 | MPI | c.622G>A (p.Val208Met) c.487+470G>A (n.487+470G>A) c.472G>A (p.Val158Met) c.*518G>A (n.*518G>A) c.562G>A (p.Val188Met) c.255+1783G>A (n.255+1783G>A) c.337+470G>A (n.337+470G>A) c.448+470G>A (n.448+470G>A) c.610G>A (p.Val204Met) | gnomAD v4 |
15 | g.74893272G>C | CA393174686 | MPI | c.622G>C (p.Val208Leu) c.487+470G>C (n.487+470G>C) c.472G>C (p.Val158Leu) c.*518G>C (n.*518G>C) c.562G>C (p.Val188Leu) c.255+1783G>C (n.255+1783G>C) c.337+470G>C (n.337+470G>C) c.448+470G>C (n.448+470G>C) c.610G>C (p.Val204Leu) | |
15 | g.74893272G= | CA2187897369 | MPI | c.622G= (p.Val208=) c.487+470G= (n.487+470G=) c.472G= (p.Val158=) c.*518G= (n.*518G=) c.562G= (p.Val188=) c.255+1783G= (n.255+1783G=) c.337+470G= (n.337+470G=) c.448+470G= (n.448+470G=) c.610G= (p.Val204=) | |
15 | g.74893272G>T | CA393174685 | MPI | c.622G>T (p.Val208Leu) c.487+470G>T (n.487+470G>T) c.472G>T (p.Val158Leu) c.*518G>T (n.*518G>T) c.562G>T (p.Val188Leu) c.255+1783G>T (n.255+1783G>T) c.337+470G>T (n.337+470G>T) c.448+470G>T (n.448+470G>T) c.610G>T (p.Val204Leu) | dbSNP gnomAD v4 |
15 | g.74893273T>A | CA393174690 | MPI | c.623T>A (p.Val208Glu) c.487+471T>A (n.487+471T>A) c.473T>A (p.Val158Glu) c.*519T>A (n.*519T>A) c.563T>A (p.Val188Glu) c.255+1784T>A (n.255+1784T>A) c.337+471T>A (n.337+471T>A) c.448+471T>A (n.448+471T>A) c.611T>A (p.Val204Glu) | |
15 | g.74893273T>C | CA393174692 | MPI | c.623T>C (p.Val208Ala) c.487+471T>C (n.487+471T>C) c.473T>C (p.Val158Ala) c.*519T>C (n.*519T>C) c.563T>C (p.Val188Ala) c.255+1784T>C (n.255+1784T>C) c.337+471T>C (n.337+471T>C) c.448+471T>C (n.448+471T>C) c.611T>C (p.Val204Ala) | gnomAD v4 |
15 | g.74893273T>G | CA393174694 | MPI | c.623T>G (p.Val208Gly) c.487+471T>G (n.487+471T>G) c.473T>G (p.Val158Gly) c.*519T>G (n.*519T>G) c.563T>G (p.Val188Gly) c.255+1784T>G (n.255+1784T>G) c.337+471T>G (n.337+471T>G) c.448+471T>G (n.448+471T>G) c.611T>G (p.Val204Gly) | gnomAD v4 |
15 | g.74893274G>A | CA491491329 | MPI | c.624G>A (p.Val208=) c.487+472G>A (n.487+472G>A) c.474G>A (p.Val158=) c.*520G>A (n.*520G>A) c.564G>A (p.Val188=) c.255+1785G>A (n.255+1785G>A) c.337+472G>A (n.337+472G>A) c.448+472G>A (n.448+472G>A) c.612G>A (p.Val204=) | |
15 | g.74893274G>C | CA491491330 | MPI | c.624G>C (p.Val208=) c.487+472G>C (n.487+472G>C) c.474G>C (p.Val158=) c.*520G>C (n.*520G>C) c.564G>C (p.Val188=) c.255+1785G>C (n.255+1785G>C) c.337+472G>C (n.337+472G>C) c.448+472G>C (n.448+472G>C) c.612G>C (p.Val204=) | |
15 | g.74893274G>T | CA491491331 | MPI | c.624G>T (p.Val208=) c.487+472G>T (n.487+472G>T) c.474G>T (p.Val158=) c.*520G>T (n.*520G>T) c.564G>T (p.Val188=) c.255+1785G>T (n.255+1785G>T) c.337+472G>T (n.337+472G>T) c.448+472G>T (n.448+472G>T) c.612G>T (p.Val204=) | |
15 | g.74893275G>A | CA393174696 | MPI | c.625G>A (p.Val209Met) c.487+473G>A (n.487+473G>A) c.475G>A (p.Val159Met) c.*521G>A (n.*521G>A) c.565G>A (p.Val189Met) c.255+1786G>A (n.255+1786G>A) c.337+473G>A (n.337+473G>A) c.448+473G>A (n.448+473G>A) c.613G>A (p.Val205Met) | |
15 | g.74893275G>C | CA393174698 | MPI | c.625G>C (p.Val209Leu) c.487+473G>C (n.487+473G>C) c.475G>C (p.Val159Leu) c.*521G>C (n.*521G>C) c.565G>C (p.Val189Leu) c.255+1786G>C (n.255+1786G>C) c.337+473G>C (n.337+473G>C) c.448+473G>C (n.448+473G>C) c.613G>C (p.Val205Leu) | |
15 | g.74893275G>T | CA393174700 | MPI | c.625G>T (p.Val209Leu) c.487+473G>T (n.487+473G>T) c.475G>T (p.Val159Leu) c.*521G>T (n.*521G>T) c.565G>T (p.Val189Leu) c.255+1786G>T (n.255+1786G>T) c.337+473G>T (n.337+473G>T) c.448+473G>T (n.448+473G>T) c.613G>T (p.Val205Leu) | |
15 | g.74893276T>A | CA393174702 | MPI | c.626T>A (p.Val209Glu) c.487+474T>A (n.487+474T>A) c.476T>A (p.Val159Glu) c.*522T>A (n.*522T>A) c.566T>A (p.Val189Glu) c.255+1787T>A (n.255+1787T>A) c.337+474T>A (n.337+474T>A) c.448+474T>A (n.448+474T>A) c.614T>A (p.Val205Glu) | |
15 | g.74893276T>C | CA393174704 | MPI | c.626T>C (p.Val209Ala) c.487+474T>C (n.487+474T>C) c.476T>C (p.Val159Ala) c.*522T>C (n.*522T>C) c.566T>C (p.Val189Ala) c.255+1787T>C (n.255+1787T>C) c.337+474T>C (n.337+474T>C) c.448+474T>C (n.448+474T>C) c.614T>C (p.Val205Ala) | gnomAD v4 |
15 | g.74893276T>G | CA393174706 | MPI | c.626T>G (p.Val209Gly) c.487+474T>G (n.487+474T>G) c.476T>G (p.Val159Gly) c.*522T>G (n.*522T>G) c.566T>G (p.Val189Gly) c.255+1787T>G (n.255+1787T>G) c.337+474T>G (n.337+474T>G) c.448+474T>G (n.448+474T>G) c.614T>G (p.Val205Gly) | |
15 | g.74893277G>A | CA491491332 | MPI | c.627G>A (p.Val209=) c.487+475G>A (n.487+475G>A) c.477G>A (p.Val159=) c.*523G>A (n.*523G>A) c.567G>A (p.Val189=) c.255+1788G>A (n.255+1788G>A) c.337+475G>A (n.337+475G>A) c.448+475G>A (n.448+475G>A) c.615G>A (p.Val205=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.74893277G>C | CA491491333 | MPI | c.627G>C (p.Val209=) c.487+475G>C (n.487+475G>C) c.477G>C (p.Val159=) c.*523G>C (n.*523G>C) c.567G>C (p.Val189=) c.255+1788G>C (n.255+1788G>C) c.337+475G>C (n.337+475G>C) c.448+475G>C (n.448+475G>C) c.615G>C (p.Val205=) | |
15 | g.74893277G= | CA2187897371 | MPI | c.627G= (p.Val209=) c.487+475G= (n.487+475G=) c.477G= (p.Val159=) c.*523G= (n.*523G=) c.567G= (p.Val189=) c.255+1788G= (n.255+1788G=) c.337+475G= (n.337+475G=) c.448+475G= (n.448+475G=) c.615G= (p.Val205=) | |
15 | g.74893277G>T | CA272823597 | MPI | c.627G>T (p.Val209=) c.487+475G>T (n.487+475G>T) c.477G>T (p.Val159=) c.*523G>T (n.*523G>T) c.567G>T (p.Val189=) c.255+1788G>T (n.255+1788G>T) c.337+475G>T (n.337+475G>T) c.448+475G>T (n.448+475G>T) c.615G>T (p.Val205=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.74893278G>A | CA7662476 | MPI | c.628G>A (p.Val210Met) c.487+476G>A (n.487+476G>A) c.478G>A (p.Val160Met) c.*524G>A (n.*524G>A) c.568G>A (p.Val190Met) c.255+1789G>A (n.255+1789G>A) c.337+476G>A (n.337+476G>A) c.448+476G>A (n.448+476G>A) c.616G>A (p.Val206Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.74893278G>C | CA393174709 | MPI | c.628G>C (p.Val210Leu) c.487+476G>C (n.487+476G>C) c.478G>C (p.Val160Leu) c.*524G>C (n.*524G>C) c.568G>C (p.Val190Leu) c.255+1789G>C (n.255+1789G>C) c.337+476G>C (n.337+476G>C) c.448+476G>C (n.448+476G>C) c.616G>C (p.Val206Leu) | |
15 | g.74893278G= | CA2187897378 | MPI | c.628G= (p.Val210=) c.487+476G= (n.487+476G=) c.478G= (p.Val160=) c.*524G= (n.*524G=) c.568G= (p.Val190=) c.255+1789G= (n.255+1789G=) c.337+476G= (n.337+476G=) c.448+476G= (n.448+476G=) c.616G= (p.Val206=) | |
15 | g.74893278G>T | CA393174711 | MPI | c.628G>T (p.Val210Leu) c.487+476G>T (n.487+476G>T) c.478G>T (p.Val160Leu) c.*524G>T (n.*524G>T) c.568G>T (p.Val190Leu) c.255+1789G>T (n.255+1789G>T) c.337+476G>T (n.337+476G>T) c.448+476G>T (n.448+476G>T) c.616G>T (p.Val206Leu) | |
15 | g.74893278_74893279delinsGT | CA2187897379 | MPI | c.628_629delinsGT (p.Val210=) c.487+476_487+477delinsGT (n.487+476_487+477delinsGT) c.478_479delinsGT (p.Val160=) c.*524_*525delinsGT (n.*524_*525delinsGT) c.568_569delinsGT (p.Val190=) c.255+1789_255+1790delinsGT (n.255+1789_255+1790delinsGT) c.337+476_337+477delinsGT (n.337+476_337+477delinsGT) c.448+476_448+477delinsGT (n.448+476_448+477delinsGT) c.616_617delinsGT (p.Val206=) | |
15 | g.74893279_74893280del | CA912992715 | MPI | c.629_630del (p.Val210GlyfsTer?) c.487+477_487+478del (n.487+477_487+478del) c.479_480del (p.Val160GlyfsTer?) c.*525_*526del (n.*525_*526del) c.569_570del (p.Val190GlyfsTer?) c.255+1790_255+1791del (n.255+1790_255+1791del) c.337+477_337+478del (n.337+477_337+478del) c.448+477_448+478del (n.448+477_448+478del) c.617_618del (p.Val206GlyfsTer?) | |
15 | g.74893279del | CA658825000 | MPI | c.629del (p.Val210GlyfsTer8) c.487+477del (n.487+477del) c.479del (p.Val160GlyfsTer8) c.*525del (n.*525del) c.569del (p.Val190GlyfsTer8) c.255+1790del (n.255+1790del) c.337+477del (n.337+477del) c.448+477del (n.448+477del) c.617del (p.Val206GlyfsTer8) | ClinVar dbSNP |
15 | g.74893279T>A | CA393174717 | MPI | c.629T>A (p.Val210Glu) c.487+477T>A (n.487+477T>A) c.479T>A (p.Val160Glu) c.*525T>A (n.*525T>A) c.569T>A (p.Val190Glu) c.255+1790T>A (n.255+1790T>A) c.337+477T>A (n.337+477T>A) c.448+477T>A (n.448+477T>A) c.617T>A (p.Val206Glu) | |
15 | g.74893279T>C | CA393174715 | MPI | c.629T>C (p.Val210Ala) c.487+477T>C (n.487+477T>C) c.479T>C (p.Val160Ala) c.*525T>C (n.*525T>C) c.569T>C (p.Val190Ala) c.255+1790T>C (n.255+1790T>C) c.337+477T>C (n.337+477T>C) c.448+477T>C (n.448+477T>C) c.617T>C (p.Val206Ala) | |
15 | g.74893279T>G | CA393174713 | MPI | c.629T>G (p.Val210Gly) c.487+477T>G (n.487+477T>G) c.479T>G (p.Val160Gly) c.*525T>G (n.*525T>G) c.569T>G (p.Val190Gly) c.255+1790T>G (n.255+1790T>G) c.337+477T>G (n.337+477T>G) c.448+477T>G (n.448+477T>G) c.617T>G (p.Val206Gly) | |
15 | g.74893279_74893280delinsTG | CA2187897385 | MPI | c.629_630delinsTG (p.Val210=) c.487+477_487+478delinsTG (n.487+477_487+478delinsTG) c.479_480delinsTG (p.Val160=) c.*525_*526delinsTG (n.*525_*526delinsTG) c.569_570delinsTG (p.Val190=) c.255+1790_255+1791delinsTG (n.255+1790_255+1791delinsTG) c.337+477_337+478delinsTG (n.337+477_337+478delinsTG) c.448+477_448+478delinsTG (n.448+477_448+478delinsTG) c.617_618delinsTG (p.Val206=) | |
15 | g.74893280G>A | CA7662477 | MPI | c.630G>A (p.Val210=) c.487+478G>A (n.487+478G>A) c.480G>A (p.Val160=) c.*526G>A (n.*526G>A) c.570G>A (p.Val190=) c.255+1791G>A (n.255+1791G>A) c.337+478G>A (n.337+478G>A) c.448+478G>A (n.448+478G>A) c.618G>A (p.Val206=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.74893280G>C | CA491491334 | MPI | c.630G>C (p.Val210=) c.487+478G>C (n.487+478G>C) c.480G>C (p.Val160=) c.*526G>C (n.*526G>C) c.570G>C (p.Val190=) c.255+1791G>C (n.255+1791G>C) c.337+478G>C (n.337+478G>C) c.448+478G>C (n.448+478G>C) c.618G>C (p.Val206=) | |
15 | g.74893280G= | CA2187897390 | MPI | c.630G= (p.Val210=) c.487+478G= (n.487+478G=) c.480G= (p.Val160=) c.*526G= (n.*526G=) c.570G= (p.Val190=) c.255+1791G= (n.255+1791G=) c.337+478G= (n.337+478G=) c.448+478G= (n.448+478G=) c.618G= (p.Val206=) | |
15 | g.74893280G>T | CA491491335 | MPI | c.630G>T (p.Val210=) c.487+478G>T (n.487+478G>T) c.480G>T (p.Val160=) c.*526G>T (n.*526G>T) c.570G>T (p.Val190=) c.255+1791G>T (n.255+1791G>T) c.337+478G>T (n.337+478G>T) c.448+478G>T (n.448+478G>T) c.618G>T (p.Val206=) | |
15 | g.74893281del | CA715704554 | MPI | c.631del (p.Glu211AsnfsTer7) c.487+479del (n.487+479del) c.481del (p.Glu161AsnfsTer7) c.*527del (n.*527del) c.571del (p.Glu191AsnfsTer7) c.255+1792del (n.255+1792del) c.337+479del (n.337+479del) c.448+479del (n.448+479del) c.619del (p.Glu207AsnfsTer7) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.74893281G>A | CA7662478 | MPI | c.631G>A (p.Glu211Lys) c.487+479G>A (n.487+479G>A) c.481G>A (p.Glu161Lys) c.*527G>A (n.*527G>A) c.571G>A (p.Glu191Lys) c.255+1792G>A (n.255+1792G>A) c.337+479G>A (n.337+479G>A) c.448+479G>A (n.448+479G>A) c.619G>A (p.Glu207Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.74893281G>C | CA393174720 | MPI | c.631G>C (p.Glu211Gln) c.487+479G>C (n.487+479G>C) c.481G>C (p.Glu161Gln) c.*527G>C (n.*527G>C) c.571G>C (p.Glu191Gln) c.255+1792G>C (n.255+1792G>C) c.337+479G>C (n.337+479G>C) c.448+479G>C (n.448+479G>C) c.619G>C (p.Glu207Gln) | |
15 | g.74893281G= | CA2187897395 | MPI | c.631G= (p.Glu211=) c.487+479G= (n.487+479G=) c.481G= (p.Glu161=) c.*527G= (n.*527G=) c.571G= (p.Glu191=) c.255+1792G= (n.255+1792G=) c.337+479G= (n.337+479G=) c.448+479G= (n.448+479G=) c.619G= (p.Glu207=) | |
15 | g.74893281G>T | CA393174722 | MPI | c.631G>T (p.Glu211Ter) c.487+479G>T (n.487+479G>T) c.481G>T (p.Glu161Ter) c.*527G>T (n.*527G>T) c.571G>T (p.Glu191Ter) c.255+1792G>T (n.255+1792G>T) c.337+479G>T (n.337+479G>T) c.448+479G>T (n.448+479G>T) c.619G>T (p.Glu207Ter) | |
15 | g.74893282A>C | CA393174724 | MPI | c.632A>C (p.Glu211Ala) c.487+480A>C (n.487+480A>C) c.482A>C (p.Glu161Ala) c.*528A>C (n.*528A>C) c.572A>C (p.Glu191Ala) c.255+1793A>C (n.255+1793A>C) c.337+480A>C (n.337+480A>C) c.448+480A>C (n.448+480A>C) c.620A>C (p.Glu207Ala) | |
15 | g.74893282A>G | CA393174726 | MPI | c.632A>G (p.Glu211Gly) c.487+480A>G (n.487+480A>G) c.482A>G (p.Glu161Gly) c.*528A>G (n.*528A>G) c.572A>G (p.Glu191Gly) c.255+1793A>G (n.255+1793A>G) c.337+480A>G (n.337+480A>G) c.448+480A>G (n.448+480A>G) c.620A>G (p.Glu207Gly) | |
15 | g.74893282A>T | CA393174727 | MPI | c.632A>T (p.Glu211Val) c.487+480A>T (n.487+480A>T) c.482A>T (p.Glu161Val) c.*528A>T (n.*528A>T) c.572A>T (p.Glu191Val) c.255+1793A>T (n.255+1793A>T) c.337+480A>T (n.337+480A>T) c.448+480A>T (n.448+480A>T) c.620A>T (p.Glu207Val) | |
15 | g.74893283A>C | CA393174729 | MPI | c.633A>C (p.Glu211Asp) c.487+481A>C (n.487+481A>C) c.483A>C (p.Glu161Asp) c.*529A>C (n.*529A>C) c.573A>C (p.Glu191Asp) c.255+1794A>C (n.255+1794A>C) c.337+481A>C (n.337+481A>C) c.448+481A>C (n.448+481A>C) c.621A>C (p.Glu207Asp) | |
15 | g.74893283A>G | CA491491336 | MPI | c.633A>G (p.Glu211=) c.487+481A>G (n.487+481A>G) c.483A>G (p.Glu161=) c.*529A>G (n.*529A>G) c.573A>G (p.Glu191=) c.255+1794A>G (n.255+1794A>G) c.337+481A>G (n.337+481A>G) c.448+481A>G (n.448+481A>G) c.621A>G (p.Glu207=) | ClinVar dbSNP |
15 | g.74893283A>T | CA393174731 | MPI | c.633A>T (p.Glu211Asp) c.487+481A>T (n.487+481A>T) c.483A>T (p.Glu161Asp) c.*529A>T (n.*529A>T) c.573A>T (p.Glu191Asp) c.255+1794A>T (n.255+1794A>T) c.337+481A>T (n.337+481A>T) c.448+481A>T (n.448+481A>T) c.621A>T (p.Glu207Asp) | |
15 | g.74893284C>A | CA393174733 | MPI | c.634C>A (p.Gln212Lys) c.487+482C>A (n.487+482C>A) c.484C>A (p.Gln162Lys) c.*530C>A (n.*530C>A) c.574C>A (p.Gln192Lys) c.255+1795C>A (n.255+1795C>A) c.337+482C>A (n.337+482C>A) c.448+482C>A (n.448+482C>A) c.622C>A (p.Gln208Lys) | gnomAD v4 |
15 | g.74893284C= | CA2187897401 | MPI | c.634C= (p.Gln212=) c.487+482C= (n.487+482C=) c.484C= (p.Gln162=) c.*530C= (n.*530C=) c.574C= (p.Gln192=) c.255+1795C= (n.255+1795C=) c.337+482C= (n.337+482C=) c.448+482C= (n.448+482C=) c.622C= (p.Gln208=) | |
15 | g.74893284C>G | CA393174734 | MPI | c.634C>G (p.Gln212Glu) c.487+482C>G (n.487+482C>G) c.484C>G (p.Gln162Glu) c.*530C>G (n.*530C>G) c.574C>G (p.Gln192Glu) c.255+1795C>G (n.255+1795C>G) c.337+482C>G (n.337+482C>G) c.448+482C>G (n.448+482C>G) c.622C>G (p.Gln208Glu) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.74893284C>T | CA7662479 | MPI | c.634C>T (p.Gln212Ter) c.487+482C>T (n.487+482C>T) c.484C>T (p.Gln162Ter) c.*530C>T (n.*530C>T) c.574C>T (p.Gln192Ter) c.255+1795C>T (n.255+1795C>T) c.337+482C>T (n.337+482C>T) c.448+482C>T (n.448+482C>T) c.622C>T (p.Gln208Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.74893285A>C | CA393174742 | MPI | c.635A>C (p.Gln212Pro) c.487+483A>C (n.487+483A>C) c.485A>C (p.Gln162Pro) c.*531A>C (n.*531A>C) c.575A>C (p.Gln192Pro) c.255+1796A>C (n.255+1796A>C) c.337+483A>C (n.337+483A>C) c.448+483A>C (n.448+483A>C) c.623A>C (p.Gln208Pro) | |
15 | g.74893285A>G | CA393174740 | MPI | c.635A>G (p.Gln212Arg) c.487+483A>G (n.487+483A>G) c.485A>G (p.Gln162Arg) c.*531A>G (n.*531A>G) c.575A>G (p.Gln192Arg) c.255+1796A>G (n.255+1796A>G) c.337+483A>G (n.337+483A>G) c.448+483A>G (n.448+483A>G) c.623A>G (p.Gln208Arg) | |
15 | g.74893285A>T | CA393174738 | MPI | c.635A>T (p.Gln212Leu) c.487+483A>T (n.487+483A>T) c.485A>T (p.Gln162Leu) c.*531A>T (n.*531A>T) c.575A>T (p.Gln192Leu) c.255+1796A>T (n.255+1796A>T) c.337+483A>T (n.337+483A>T) c.448+483A>T (n.448+483A>T) c.623A>T (p.Gln208Leu) | |
15 | g.74893286G>A | CA491491337 | MPI | c.636G>A (p.Gln212=) c.487+484G>A (n.487+484G>A) c.486G>A (p.Gln162=) c.*532G>A (n.*532G>A) c.576G>A (p.Gln192=) c.255+1797G>A (n.255+1797G>A) c.337+484G>A (n.337+484G>A) c.448+484G>A (n.448+484G>A) c.624G>A (p.Gln208=) | |
15 | g.74893286G>C | CA393174744 | MPI | c.636G>C (p.Gln212His) c.487+484G>C (n.487+484G>C) c.486G>C (p.Gln162His) c.*532G>C (n.*532G>C) c.576G>C (p.Gln192His) c.255+1797G>C (n.255+1797G>C) c.337+484G>C (n.337+484G>C) c.448+484G>C (n.448+484G>C) c.624G>C (p.Gln208His) | |
15 | g.74893286G>T | CA393174746 | MPI | c.636G>T (p.Gln212His) c.487+484G>T (n.487+484G>T) c.486G>T (p.Gln162His) c.*532G>T (n.*532G>T) c.576G>T (p.Gln192His) c.255+1797G>T (n.255+1797G>T) c.337+484G>T (n.337+484G>T) c.448+484G>T (n.448+484G>T) c.624G>T (p.Gln208His) | |
15 | g.74893287C>A | CA393174747 | MPI | c.637C>A (p.Leu213Ile) c.487+485C>A (n.487+485C>A) c.487C>A (p.Leu163Ile) c.*533C>A (n.*533C>A) c.577C>A (p.Leu193Ile) c.255+1798C>A (n.255+1798C>A) c.337+485C>A (n.337+485C>A) c.448+485C>A (n.448+485C>A) c.625C>A (p.Leu209Ile) | |
15 | g.74893287C>G | CA393174749 | MPI | c.637C>G (p.Leu213Val) c.487+485C>G (n.487+485C>G) c.487C>G (p.Leu163Val) c.*533C>G (n.*533C>G) c.577C>G (p.Leu193Val) c.255+1798C>G (n.255+1798C>G) c.337+485C>G (n.337+485C>G) c.448+485C>G (n.448+485C>G) c.625C>G (p.Leu209Val) | |
15 | g.74893287C>T | CA393174750 | MPI | c.637C>T (p.Leu213Phe) c.487+485C>T (n.487+485C>T) c.487C>T (p.Leu163Phe) c.*533C>T (n.*533C>T) c.577C>T (p.Leu193Phe) c.255+1798C>T (n.255+1798C>T) c.337+485C>T (n.337+485C>T) c.448+485C>T (n.448+485C>T) c.625C>T (p.Leu209Phe) | gnomAD v4 |
15 | g.74893288T>A | CA393174752 | MPI | c.638T>A (p.Leu213His) c.487+486T>A (n.487+486T>A) c.488T>A (p.Leu163His) c.*534T>A (n.*534T>A) c.578T>A (p.Leu193His) c.255+1799T>A (n.255+1799T>A) c.337+486T>A (n.337+486T>A) c.448+486T>A (n.448+486T>A) c.626T>A (p.Leu209His) | |
15 | g.74893288T>C | CA393174754 | MPI | c.638T>C (p.Leu213Pro) c.487+486T>C (n.487+486T>C) c.488T>C (p.Leu163Pro) c.*534T>C (n.*534T>C) c.578T>C (p.Leu193Pro) c.255+1799T>C (n.255+1799T>C) c.337+486T>C (n.337+486T>C) c.448+486T>C (n.448+486T>C) c.626T>C (p.Leu209Pro) | |
15 | g.74893288T>G | CA393174755 | MPI | c.638T>G (p.Leu213Arg) c.487+486T>G (n.487+486T>G) c.488T>G (p.Leu163Arg) c.*534T>G (n.*534T>G) c.578T>G (p.Leu193Arg) c.255+1799T>G (n.255+1799T>G) c.337+486T>G (n.337+486T>G) c.448+486T>G (n.448+486T>G) c.626T>G (p.Leu209Arg) | |
15 | g.74893289C>A | CA491491338 | MPI | c.639C>A (p.Leu213=) c.487+487C>A (n.487+487C>A) c.489C>A (p.Leu163=) c.*535C>A (n.*535C>A) c.579C>A (p.Leu193=) c.255+1800C>A (n.255+1800C>A) c.337+487C>A (n.337+487C>A) c.448+487C>A (n.448+487C>A) c.627C>A (p.Leu209=) | |
15 | g.74893289C= | CA2187897407 | MPI | c.639C= (p.Leu213=) c.487+487C= (n.487+487C=) c.489C= (p.Leu163=) c.*535C= (n.*535C=) c.579C= (p.Leu193=) c.255+1800C= (n.255+1800C=) c.337+487C= (n.337+487C=) c.448+487C= (n.448+487C=) c.627C= (p.Leu209=) | |
15 | g.74893289C>G | CA491491339 | MPI | c.639C>G (p.Leu213=) c.487+487C>G (n.487+487C>G) c.489C>G (p.Leu163=) c.*535C>G (n.*535C>G) c.579C>G (p.Leu193=) c.255+1800C>G (n.255+1800C>G) c.337+487C>G (n.337+487C>G) c.448+487C>G (n.448+487C>G) c.627C>G (p.Leu209=) | |
15 | g.74893289C>T | CA7662480 | MPI | c.639C>T (p.Leu213=) c.487+487C>T (n.487+487C>T) c.489C>T (p.Leu163=) c.*535C>T (n.*535C>T) c.579C>T (p.Leu193=) c.255+1800C>T (n.255+1800C>T) c.337+487C>T (n.337+487C>T) c.448+487C>T (n.448+487C>T) c.627C>T (p.Leu209=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.74893290A= | CA2187897413 | MPI | c.640A= (p.Asn214=) c.487+488A= (n.487+488A=) c.490A= (p.Asn164=) c.*536A= (n.*536A=) c.580A= (p.Asn194=) c.255+1801A= (n.255+1801A=) c.337+488A= (n.337+488A=) c.448+488A= (n.448+488A=) c.628A= (p.Asn210=) | |
15 | g.74893290A>C | CA393174759 | MPI | c.640A>C (p.Asn214His) c.487+488A>C (n.487+488A>C) c.490A>C (p.Asn164His) c.*536A>C (n.*536A>C) c.580A>C (p.Asn194His) c.255+1801A>C (n.255+1801A>C) c.337+488A>C (n.337+488A>C) c.448+488A>C (n.448+488A>C) c.628A>C (p.Asn210His) | gnomAD v4 |
15 | g.74893290A>G | CA393174761 | MPI | c.640A>G (p.Asn214Asp) c.487+488A>G (n.487+488A>G) c.490A>G (p.Asn164Asp) c.*536A>G (n.*536A>G) c.580A>G (p.Asn194Asp) c.255+1801A>G (n.255+1801A>G) c.337+488A>G (n.337+488A>G) c.448+488A>G (n.448+488A>G) c.628A>G (p.Asn210Asp) | |
15 | g.74893290A>T | CA7662481 | MPI | c.640A>T (p.Asn214Tyr) c.487+488A>T (n.487+488A>T) c.490A>T (p.Asn164Tyr) c.*536A>T (n.*536A>T) c.580A>T (p.Asn194Tyr) c.255+1801A>T (n.255+1801A>T) c.337+488A>T (n.337+488A>T) c.448+488A>T (n.448+488A>T) c.628A>T (p.Asn210Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.74893291A= | CA2187897415 | MPI | c.641A= (p.Asn214=) c.487+489A= (n.487+489A=) c.491A= (p.Asn164=) c.*537A= (n.*537A=) c.581A= (p.Asn194=) c.255+1802A= (n.255+1802A=) c.337+489A= (n.337+489A=) c.448+489A= (n.448+489A=) c.629A= (p.Asn210=) | |
15 | g.74893291A>C | CA393174764 | MPI | c.641A>C (p.Asn214Thr) c.487+489A>C (n.487+489A>C) c.491A>C (p.Asn164Thr) c.*537A>C (n.*537A>C) c.581A>C (p.Asn194Thr) c.255+1802A>C (n.255+1802A>C) c.337+489A>C (n.337+489A>C) c.448+489A>C (n.448+489A>C) c.629A>C (p.Asn210Thr) | |
15 | g.74893291A>G | CA393174766 | MPI | c.641A>G (p.Asn214Ser) c.487+489A>G (n.487+489A>G) c.491A>G (p.Asn164Ser) c.*537A>G (n.*537A>G) c.581A>G (p.Asn194Ser) c.255+1802A>G (n.255+1802A>G) c.337+489A>G (n.337+489A>G) c.448+489A>G (n.448+489A>G) c.629A>G (p.Asn210Ser) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.74893291A>T | CA393174768 | MPI | c.641A>T (p.Asn214Ile) c.487+489A>T (n.487+489A>T) c.491A>T (p.Asn164Ile) c.*537A>T (n.*537A>T) c.581A>T (p.Asn194Ile) c.255+1802A>T (n.255+1802A>T) c.337+489A>T (n.337+489A>T) c.448+489A>T (n.448+489A>T) c.629A>T (p.Asn210Ile) | |
15 | g.74893292C>A | CA393174772 | MPI | c.642C>A (p.Asn214Lys) c.487+490C>A (n.487+490C>A) c.492C>A (p.Asn164Lys) c.*538C>A (n.*538C>A) c.582C>A (p.Asn194Lys) c.255+1803C>A (n.255+1803C>A) c.337+490C>A (n.337+490C>A) c.448+490C>A (n.448+490C>A) c.630C>A (p.Asn210Lys) | gnomAD v4 |
15 | g.74893292C>G | CA393174770 | MPI | c.642C>G (p.Asn214Lys) c.487+490C>G (n.487+490C>G) c.492C>G (p.Asn164Lys) c.*538C>G (n.*538C>G) c.582C>G (p.Asn194Lys) c.255+1803C>G (n.255+1803C>G) c.337+490C>G (n.337+490C>G) c.448+490C>G (n.448+490C>G) c.630C>G (p.Asn210Lys) | |
15 | g.74893292C>T | CA491491340 | MPI | c.642C>T (p.Asn214=) c.487+490C>T (n.487+490C>T) c.492C>T (p.Asn164=) c.*538C>T (n.*538C>T) c.582C>T (p.Asn194=) c.255+1803C>T (n.255+1803C>T) c.337+490C>T (n.337+490C>T) c.448+490C>T (n.448+490C>T) c.630C>T (p.Asn210=) | |
15 | g.74893293C>A | CA393174774 | MPI | c.643C>A (p.Leu215Met) c.487+491C>A (n.487+491C>A) c.493C>A (p.Leu165Met) c.*539C>A (n.*539C>A) c.583C>A (p.Leu195Met) c.255+1804C>A (n.255+1804C>A) c.337+491C>A (n.337+491C>A) c.448+491C>A (n.448+491C>A) c.631C>A (p.Leu211Met) | |
15 | g.74893293C= | CA2187897417 | MPI | c.643C= (p.Leu215=) c.487+491C= (n.487+491C=) c.493C= (p.Leu165=) c.*539C= (n.*539C=) c.583C= (p.Leu195=) c.255+1804C= (n.255+1804C=) c.337+491C= (n.337+491C=) c.448+491C= (n.448+491C=) c.631C= (p.Leu211=) | |
15 | g.74893293C>G | CA393174776 | MPI | c.643C>G (p.Leu215Val) c.487+491C>G (n.487+491C>G) c.493C>G (p.Leu165Val) c.*539C>G (n.*539C>G) c.583C>G (p.Leu195Val) c.255+1804C>G (n.255+1804C>G) c.337+491C>G (n.337+491C>G) c.448+491C>G (n.448+491C>G) c.631C>G (p.Leu211Val) | |
15 | g.74893293C>T | CA491491341 | MPI | c.643C>T (p.Leu215=) c.487+491C>T (n.487+491C>T) c.493C>T (p.Leu165=) c.*539C>T (n.*539C>T) c.583C>T (p.Leu195=) c.255+1804C>T (n.255+1804C>T) c.337+491C>T (n.337+491C>T) c.448+491C>T (n.448+491C>T) c.631C>T (p.Leu211=) | ClinVar dbSNP COSMIC |
15 | g.74893294T>A | CA393174779 | MPI | c.644T>A (p.Leu215Gln) c.487+492T>A (n.487+492T>A) c.494T>A (p.Leu165Gln) c.*540T>A (n.*540T>A) c.584T>A (p.Leu195Gln) c.255+1805T>A (n.255+1805T>A) c.337+492T>A (n.337+492T>A) c.448+492T>A (n.448+492T>A) c.632T>A (p.Leu211Gln) | |
15 | g.74893294T>C | CA393174780 | MPI | c.644T>C (p.Leu215Pro) c.487+492T>C (n.487+492T>C) c.494T>C (p.Leu165Pro) c.*540T>C (n.*540T>C) c.584T>C (p.Leu195Pro) c.255+1805T>C (n.255+1805T>C) c.337+492T>C (n.337+492T>C) c.448+492T>C (n.448+492T>C) c.632T>C (p.Leu211Pro) | |
15 | g.74893294T>G | CA393174782 | MPI | c.644T>G (p.Leu215Arg) c.487+492T>G (n.487+492T>G) c.494T>G (p.Leu165Arg) c.*540T>G (n.*540T>G) c.584T>G (p.Leu195Arg) c.255+1805T>G (n.255+1805T>G) c.337+492T>G (n.337+492T>G) c.448+492T>G (n.448+492T>G) c.632T>G (p.Leu211Arg) | |
15 | g.74893295G>A | CA491491342 | MPI | c.645G>A (p.Leu215=) c.487+493G>A (n.487+493G>A) c.495G>A (p.Leu165=) c.*541G>A (n.*541G>A) c.585G>A (p.Leu195=) c.255+1806G>A (n.255+1806G>A) c.337+493G>A (n.337+493G>A) c.448+493G>A (n.448+493G>A) c.633G>A (p.Leu211=) | |
15 | g.74893295G>C | CA491491343 | MPI | c.645G>C (p.Leu215=) c.487+493G>C (n.487+493G>C) c.495G>C (p.Leu165=) c.*541G>C (n.*541G>C) c.585G>C (p.Leu195=) c.255+1806G>C (n.255+1806G>C) c.337+493G>C (n.337+493G>C) c.448+493G>C (n.448+493G>C) c.633G>C (p.Leu211=) | gnomAD v4 |
15 | g.74893295G>T | CA491491344 | MPI | c.645G>T (p.Leu215=) c.487+493G>T (n.487+493G>T) c.495G>T (p.Leu165=) c.*541G>T (n.*541G>T) c.585G>T (p.Leu195=) c.255+1806G>T (n.255+1806G>T) c.337+493G>T (n.337+493G>T) c.448+493G>T (n.448+493G>T) c.633G>T (p.Leu211=) | |
15 | g.74893297_74893300del | CA2573151154 | MPI | c.647_650del (p.Leu216Ter) c.487+495_487+498del (n.487+495_487+498del) c.497_500del (p.Leu166Ter) c.*543_*546del (n.*543_*546del) c.587_590del (p.Leu196Ter) c.255+1808_255+1811del (n.255+1808_255+1811del) c.337+495_337+498del (n.337+495_337+498del) c.448+495_448+498del (n.448+495_448+498del) c.635_638del (p.Leu212Ter) | ClinVar dbSNP |
15 | g.74893296T>A | CA393174784 | MPI | c.646T>A (p.Leu216Met) c.487+494T>A (n.487+494T>A) c.496T>A (p.Leu166Met) c.*542T>A (n.*542T>A) c.586T>A (p.Leu196Met) c.255+1807T>A (n.255+1807T>A) c.337+494T>A (n.337+494T>A) c.448+494T>A (n.448+494T>A) c.634T>A (p.Leu212Met) | |
15 | g.74893296T>C | CA491491345 | MPI | c.646T>C (p.Leu216=) c.487+494T>C (n.487+494T>C) c.496T>C (p.Leu166=) c.*542T>C (n.*542T>C) c.586T>C (p.Leu196=) c.255+1807T>C (n.255+1807T>C) c.337+494T>C (n.337+494T>C) c.448+494T>C (n.448+494T>C) c.634T>C (p.Leu212=) | gnomAD v4 |
15 | g.74893296T>G | CA393174786 | MPI | c.646T>G (p.Leu216Val) c.487+494T>G (n.487+494T>G) c.496T>G (p.Leu166Val) c.*542T>G (n.*542T>G) c.586T>G (p.Leu196Val) c.255+1807T>G (n.255+1807T>G) c.337+494T>G (n.337+494T>G) c.448+494T>G (n.448+494T>G) c.634T>G (p.Leu212Val) | |
15 | g.74893297T>A | CA393174788 | MPI | c.647T>A (p.Leu216Ter) c.487+495T>A (n.487+495T>A) c.497T>A (p.Leu166Ter) c.*543T>A (n.*543T>A) c.587T>A (p.Leu196Ter) c.255+1808T>A (n.255+1808T>A) c.337+495T>A (n.337+495T>A) c.448+495T>A (n.448+495T>A) c.635T>A (p.Leu212Ter) | |
15 | g.74893297T>C | CA393174790 | MPI | c.647T>C (p.Leu216Ser) c.487+495T>C (n.487+495T>C) c.497T>C (p.Leu166Ser) c.*543T>C (n.*543T>C) c.587T>C (p.Leu196Ser) c.255+1808T>C (n.255+1808T>C) c.337+495T>C (n.337+495T>C) c.448+495T>C (n.448+495T>C) c.635T>C (p.Leu212Ser) | |
15 | g.74893297T>G | CA393174792 | MPI | c.647T>G (p.Leu216Trp) c.487+495T>G (n.487+495T>G) c.497T>G (p.Leu166Trp) c.*543T>G (n.*543T>G) c.587T>G (p.Leu196Trp) c.255+1808T>G (n.255+1808T>G) c.337+495T>G (n.337+495T>G) c.448+495T>G (n.448+495T>G) c.635T>G (p.Leu212Trp) | |
15 | g.74893298G>A | CA491491346 | MPI | c.648G>A (p.Leu216=) c.487+496G>A (n.487+496G>A) c.498G>A (p.Leu166=) c.*544G>A (n.*544G>A) c.588G>A (p.Leu196=) c.255+1809G>A (n.255+1809G>A) c.337+496G>A (n.337+496G>A) c.448+496G>A (n.448+496G>A) c.636G>A (p.Leu212=) | |
15 | g.74893298G>C | CA393174794 | MPI | c.648G>C (p.Leu216Phe) c.487+496G>C (n.487+496G>C) c.498G>C (p.Leu166Phe) c.*544G>C (n.*544G>C) c.588G>C (p.Leu196Phe) c.255+1809G>C (n.255+1809G>C) c.337+496G>C (n.337+496G>C) c.448+496G>C (n.448+496G>C) c.636G>C (p.Leu212Phe) | |
15 | g.74893298G>T | CA393174796 | MPI | c.648G>T (p.Leu216Phe) c.487+496G>T (n.487+496G>T) c.498G>T (p.Leu166Phe) c.*544G>T (n.*544G>T) c.588G>T (p.Leu196Phe) c.255+1809G>T (n.255+1809G>T) c.337+496G>T (n.337+496G>T) c.448+496G>T (n.448+496G>T) c.636G>T (p.Leu212Phe) | |
15 | g.74893299G>A | CA393174800 | MPI | c.649G>A (p.Val217Met) c.487+497G>A (n.487+497G>A) c.499G>A (p.Val167Met) c.*545G>A (n.*545G>A) c.589G>A (p.Val197Met) c.255+1810G>A (n.255+1810G>A) c.337+497G>A (n.337+497G>A) c.448+497G>A (n.448+497G>A) c.637G>A (p.Val213Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.74893299G>C | CA7662482 | MPI | c.649G>C (p.Val217Leu) c.487+497G>C (n.487+497G>C) c.499G>C (p.Val167Leu) c.*545G>C (n.*545G>C) c.589G>C (p.Val197Leu) c.255+1810G>C (n.255+1810G>C) c.337+497G>C (n.337+497G>C) c.448+497G>C (n.448+497G>C) c.637G>C (p.Val213Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.74893299G= | CA2187897421 | MPI | c.649G= (p.Val217=) c.487+497G= (n.487+497G=) c.499G= (p.Val167=) c.*545G= (n.*545G=) c.589G= (p.Val197=) c.255+1810G= (n.255+1810G=) c.337+497G= (n.337+497G=) c.448+497G= (n.448+497G=) c.637G= (p.Val213=) | |
15 | g.74893299G>T | CA393174798 | MPI | c.649G>T (p.Val217Leu) c.487+497G>T (n.487+497G>T) c.499G>T (p.Val167Leu) c.*545G>T (n.*545G>T) c.589G>T (p.Val197Leu) c.255+1810G>T (n.255+1810G>T) c.337+497G>T (n.337+497G>T) c.448+497G>T (n.448+497G>T) c.637G>T (p.Val213Leu) | |
15 | g.74893300T>A | CA393174802 | MPI | c.650T>A (p.Val217Glu) c.487+498T>A (n.487+498T>A) c.500T>A (p.Val167Glu) c.*546T>A (n.*546T>A) c.590T>A (p.Val197Glu) c.255+1811T>A (n.255+1811T>A) c.337+498T>A (n.337+498T>A) c.448+498T>A (n.448+498T>A) c.638T>A (p.Val213Glu) | |
15 | g.74893300T>C | CA393174804 | MPI | c.650T>C (p.Val217Ala) c.487+498T>C (n.487+498T>C) c.500T>C (p.Val167Ala) c.*546T>C (n.*546T>C) c.590T>C (p.Val197Ala) c.255+1811T>C (n.255+1811T>C) c.337+498T>C (n.337+498T>C) c.448+498T>C (n.448+498T>C) c.638T>C (p.Val213Ala) | |
15 | g.74893300T>G | CA393174806 | MPI | c.650T>G (p.Val217Gly) c.487+498T>G (n.487+498T>G) c.500T>G (p.Val167Gly) c.*546T>G (n.*546T>G) c.590T>G (p.Val197Gly) c.255+1811T>G (n.255+1811T>G) c.337+498T>G (n.337+498T>G) c.448+498T>G (n.448+498T>G) c.638T>G (p.Val213Gly) | gnomAD v4 |
15 | g.74893301G>A | CA7662483 | MPI | c.651G>A (p.Val217=) c.487+499G>A (n.487+499G>A) c.501G>A (p.Val167=) c.*547G>A (n.*547G>A) c.591G>A (p.Val197=) c.255+1812G>A (n.255+1812G>A) c.337+499G>A (n.337+499G>A) c.448+499G>A (n.448+499G>A) c.639G>A (p.Val213=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.74893301G>C | CA491491347 | MPI | c.651G>C (p.Val217=) c.487+499G>C (n.487+499G>C) c.501G>C (p.Val167=) c.*547G>C (n.*547G>C) c.591G>C (p.Val197=) c.255+1812G>C (n.255+1812G>C) c.337+499G>C (n.337+499G>C) c.448+499G>C (n.448+499G>C) c.639G>C (p.Val213=) | |
15 | g.74893301G= | CA2187897424 | MPI | c.651G= (p.Val217=) c.487+499G= (n.487+499G=) c.501G= (p.Val167=) c.*547G= (n.*547G=) c.591G= (p.Val197=) c.255+1812G= (n.255+1812G=) c.337+499G= (n.337+499G=) c.448+499G= (n.448+499G=) c.639G= (p.Val213=) | |
15 | g.74893301G>T | CA491491348 | MPI | c.651G>T (p.Val217=) c.487+499G>T (n.487+499G>T) c.501G>T (p.Val167=) c.*547G>T (n.*547G>T) c.591G>T (p.Val197=) c.255+1812G>T (n.255+1812G>T) c.337+499G>T (n.337+499G>T) c.448+499G>T (n.448+499G>T) c.639G>T (p.Val213=) | |
15 | g.74893302A= | CA2187897429 | MPI | c.652A= (p.Lys218=) c.487+500A= (n.487+500A=) c.502A= (p.Lys168=) c.*548A= (n.*548A=) c.592A= (p.Lys198=) c.255+1813A= (n.255+1813A=) c.337+500A= (n.337+500A=) c.448+500A= (n.448+500A=) c.640A= (p.Lys214=) | |
15 | g.74893302A>C | CA393174808 | MPI | c.652A>C (p.Lys218Gln) c.487+500A>C (n.487+500A>C) c.502A>C (p.Lys168Gln) c.*548A>C (n.*548A>C) c.592A>C (p.Lys198Gln) c.255+1813A>C (n.255+1813A>C) c.337+500A>C (n.337+500A>C) c.448+500A>C (n.448+500A>C) c.640A>C (p.Lys214Gln) | |
15 | g.74893302A>G | CA393174810 | MPI | c.652A>G (p.Lys218Glu) c.487+500A>G (n.487+500A>G) c.502A>G (p.Lys168Glu) c.*548A>G (n.*548A>G) c.592A>G (p.Lys198Glu) c.255+1813A>G (n.255+1813A>G) c.337+500A>G (n.337+500A>G) c.448+500A>G (n.448+500A>G) c.640A>G (p.Lys214Glu) | |
15 | g.74893302A>T | CA16041749 | MPI | c.652A>T (p.Lys218Ter) c.487+500A>T (n.487+500A>T) c.502A>T (p.Lys168Ter) c.*548A>T (n.*548A>T) c.592A>T (p.Lys198Ter) c.255+1813A>T (n.255+1813A>T) c.337+500A>T (n.337+500A>T) c.448+500A>T (n.448+500A>T) c.640A>T (p.Lys214Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.74893303A= | CA2187897433 | MPI | c.653A= (p.Lys218=) c.487+501A= (n.487+501A=) c.503A= (p.Lys168=) c.*549A= (n.*549A=) c.593A= (p.Lys198=) c.255+1814A= (n.255+1814A=) c.337+501A= (n.337+501A=) c.448+501A= (n.448+501A=) c.641A= (p.Lys214=) | |
15 | g.74893303A>C | CA393174813 | MPI | c.653A>C (p.Lys218Thr) c.487+501A>C (n.487+501A>C) c.503A>C (p.Lys168Thr) c.*549A>C (n.*549A>C) c.593A>C (p.Lys198Thr) c.255+1814A>C (n.255+1814A>C) c.337+501A>C (n.337+501A>C) c.448+501A>C (n.448+501A>C) c.641A>C (p.Lys214Thr) | |
15 | g.74893303A>G | CA393174817 | MPI | c.653A>G (p.Lys218Arg) c.487+501A>G (n.487+501A>G) c.503A>G (p.Lys168Arg) c.*549A>G (n.*549A>G) c.593A>G (p.Lys198Arg) c.255+1814A>G (n.255+1814A>G) c.337+501A>G (n.337+501A>G) c.448+501A>G (n.448+501A>G) c.641A>G (p.Lys214Arg) | gnomAD v4 |
15 | g.74893303A>T | CA393174815 | MPI | c.653A>T (p.Lys218Met) c.487+501A>T (n.487+501A>T) c.503A>T (p.Lys168Met) c.*549A>T (n.*549A>T) c.593A>T (p.Lys198Met) c.255+1814A>T (n.255+1814A>T) c.337+501A>T (n.337+501A>T) c.448+501A>T (n.448+501A>T) c.641A>T (p.Lys214Met) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.74893304G>A | CA491491351 | MPI | c.654G>A (p.Lys218=) c.487+502G>A (n.487+502G>A) c.504G>A (p.Lys168=) c.*550G>A (n.*550G>A) c.594G>A (p.Lys198=) c.255+1815G>A (n.255+1815G>A) c.337+502G>A (n.337+502G>A) c.448+502G>A (n.448+502G>A) c.642G>A (p.Lys214=) | gnomAD v4 |
15 | g.74893304G>C | CA393174820 | MPI | c.654G>C (p.Lys218Asn) c.487+502G>C (n.487+502G>C) c.504G>C (p.Lys168Asn) c.*550G>C (n.*550G>C) c.594G>C (p.Lys198Asn) c.255+1815G>C (n.255+1815G>C) c.337+502G>C (n.337+502G>C) c.448+502G>C (n.448+502G>C) c.642G>C (p.Lys214Asn) | |
15 | g.74893304G>T | CA393174821 | MPI | c.654G>T (p.Lys218Asn) c.487+502G>T (n.487+502G>T) c.504G>T (p.Lys168Asn) c.*550G>T (n.*550G>T) c.594G>T (p.Lys198Asn) c.255+1815G>T (n.255+1815G>T) c.337+502G>T (n.337+502G>T) c.448+502G>T (n.448+502G>T) c.642G>T (p.Lys214Asn) | COSMIC |
15 | g.74893305C>A | CA491491353 | MPI | c.655C>A (p.Arg219=) c.487+503C>A (n.487+503C>A) c.505C>A (p.Arg169=) c.*551C>A (n.*551C>A) c.595C>A (p.Arg199=) c.255+1816C>A (n.255+1816C>A) c.337+503C>A (n.337+503C>A) c.448+503C>A (n.448+503C>A) c.643C>A (p.Arg215=) | |
15 | g.74893305C= | CA2187897436 | MPI | c.655C= (p.Arg219=) c.487+503C= (n.487+503C=) c.505C= (p.Arg169=) c.*551C= (n.*551C=) c.595C= (p.Arg199=) c.255+1816C= (n.255+1816C=) c.337+503C= (n.337+503C=) c.448+503C= (n.448+503C=) c.643C= (p.Arg215=) | |
15 | g.74893305C>G | CA393174824 | MPI | c.655C>G (p.Arg219Gly) c.487+503C>G (n.487+503C>G) c.505C>G (p.Arg169Gly) c.*551C>G (n.*551C>G) c.595C>G (p.Arg199Gly) c.255+1816C>G (n.255+1816C>G) c.337+503C>G (n.337+503C>G) c.448+503C>G (n.448+503C>G) c.643C>G (p.Arg215Gly) | gnomAD v4 |
15 | g.74893305C>T | CA7662484 | MPI | c.655C>T (p.Arg219Trp) c.487+503C>T (n.487+503C>T) c.505C>T (p.Arg169Trp) c.*551C>T (n.*551C>T) c.595C>T (p.Arg199Trp) c.255+1816C>T (n.255+1816C>T) c.337+503C>T (n.337+503C>T) c.448+503C>T (n.448+503C>T) c.643C>T (p.Arg215Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.74893305_74893306delinsCG | CA2187897437 | MPI | c.655_656delinsCG (p.Arg219=) c.487+503_487+504delinsCG (n.487+503_487+504delinsCG) c.505_506delinsCG (p.Arg169=) c.*551_*552delinsCG (n.*551_*552delinsCG) c.595_596delinsCG (p.Arg199=) c.255+1816_255+1817delinsCG (n.255+1816_255+1817delinsCG) c.337+503_337+504delinsCG (n.337+503_337+504delinsCG) c.448+503_448+504delinsCG (n.448+503_448+504delinsCG) c.643_644delinsCG (p.Arg215=) | |
15 | g.74893306G>A | CA257210 | MPI | c.656G>A (p.Arg219Gln) c.487+504G>A (n.487+504G>A) c.506G>A (p.Arg169Gln) c.*552G>A (n.*552G>A) c.596G>A (p.Arg199Gln) c.255+1817G>A (n.255+1817G>A) c.337+504G>A (n.337+504G>A) c.448+504G>A (n.448+504G>A) c.644G>A (p.Arg215Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.74893306G>C | CA393174828 | MPI | c.656G>C (p.Arg219Pro) c.487+504G>C (n.487+504G>C) c.506G>C (p.Arg169Pro) c.*552G>C (n.*552G>C) c.596G>C (p.Arg199Pro) c.255+1817G>C (n.255+1817G>C) c.337+504G>C (n.337+504G>C) c.448+504G>C (n.448+504G>C) c.644G>C (p.Arg215Pro) | dbSNP |
15 | g.74893306G= | CA2187897443 | MPI | c.656G= (p.Arg219=) c.487+504G= (n.487+504G=) c.506G= (p.Arg169=) c.*552G= (n.*552G=) c.596G= (p.Arg199=) c.255+1817G= (n.255+1817G=) c.337+504G= (n.337+504G=) c.448+504G= (n.448+504G=) c.644G= (p.Arg215=) | |
15 | g.74893306G>T | CA393174827 | MPI | c.656G>T (p.Arg219Leu) c.487+504G>T (n.487+504G>T) c.506G>T (p.Arg169Leu) c.*552G>T (n.*552G>T) c.596G>T (p.Arg199Leu) c.255+1817G>T (n.255+1817G>T) c.337+504G>T (n.337+504G>T) c.448+504G>T (n.448+504G>T) c.644G>T (p.Arg215Leu) | |
15 | g.74893307del | CA2187897442 | MPI | c.657del (p.Ile220SerfsTer?) c.487+505del (n.487+505del) c.507del (p.Ile170SerfsTer?) c.*553del (n.*553del) c.597del (p.Ile200SerfsTer?) c.255+1818del (n.255+1818del) c.337+505del (n.337+505del) c.448+505del (n.448+505del) c.645del (p.Ile216SerfsTer?) | ClinVar dbSNP |
15 | g.74893307G>A | CA491491356 | MPI | c.657G>A (p.Arg219=) c.487+505G>A (n.487+505G>A) c.507G>A (p.Arg169=) c.*553G>A (n.*553G>A) c.597G>A (p.Arg199=) c.255+1818G>A (n.255+1818G>A) c.337+505G>A (n.337+505G>A) c.448+505G>A (n.448+505G>A) c.645G>A (p.Arg215=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
15 | g.74893307G>C | CA491491357 | MPI | c.657G>C (p.Arg219=) c.487+505G>C (n.487+505G>C) c.507G>C (p.Arg169=) c.*553G>C (n.*553G>C) c.597G>C (p.Arg199=) c.255+1818G>C (n.255+1818G>C) c.337+505G>C (n.337+505G>C) c.448+505G>C (n.448+505G>C) c.645G>C (p.Arg215=) | ClinVar dbSNP gnomAD v4 |
15 | g.74893307G= | CA2187897448 | MPI | c.657G= (p.Arg219=) c.487+505G= (n.487+505G=) c.507G= (p.Arg169=) c.*553G= (n.*553G=) c.597G= (p.Arg199=) c.255+1818G= (n.255+1818G=) c.337+505G= (n.337+505G=) c.448+505G= (n.448+505G=) c.645G= (p.Arg215=) | |
15 | g.74893307G>T | CA491491358 | MPI | c.657G>T (p.Arg219=) c.487+505G>T (n.487+505G>T) c.507G>T (p.Arg169=) c.*553G>T (n.*553G>T) c.597G>T (p.Arg199=) c.255+1818G>T (n.255+1818G>T) c.337+505G>T (n.337+505G>T) c.448+505G>T (n.448+505G>T) c.645G>T (p.Arg215=) | ClinVar dbSNP |
15 | g.74893308A>C | CA393174830 | MPI | c.658A>C (p.Ile220Leu) c.487+506A>C (n.487+506A>C) c.508A>C (p.Ile170Leu) c.*554A>C (n.*554A>C) c.598A>C (p.Ile200Leu) c.255+1819A>C (n.255+1819A>C) c.337+506A>C (n.337+506A>C) c.448+506A>C (n.448+506A>C) c.646A>C (p.Ile216Leu) | |
15 | g.74893308A>G | CA393174832 | MPI | c.658A>G (p.Ile220Val) c.487+506A>G (n.487+506A>G) c.508A>G (p.Ile170Val) c.*554A>G (n.*554A>G) c.598A>G (p.Ile200Val) c.255+1819A>G (n.255+1819A>G) c.337+506A>G (n.337+506A>G) c.448+506A>G (n.448+506A>G) c.646A>G (p.Ile216Val) | |
15 | g.74893308A>T | CA393174833 | MPI | c.658A>T (p.Ile220Phe) c.487+506A>T (n.487+506A>T) c.508A>T (p.Ile170Phe) c.*554A>T (n.*554A>T) c.598A>T (p.Ile200Phe) c.255+1819A>T (n.255+1819A>T) c.337+506A>T (n.337+506A>T) c.448+506A>T (n.448+506A>T) c.646A>T (p.Ile216Phe) |