Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.45991468T>A | CA399977557 | MAPT | c.351T>A (p.Asp117Glu) c.264T>A (p.Asp88Glu) n.503T>A c.438T>A (p.Asp146Glu) n.302T>A c.1614T>A (p.Asp538Glu) c.1416T>A (p.Asp472Glu) c.1389T>A (p.Asp463Glu) n.392T>A n.5723T>A c.1701T>A (p.Asp567Glu) c.1527T>A (p.Asp509Glu) c.1503T>A (p.Asp501Glu) c.636T>A (p.Asp212Glu) c.549T>A (p.Asp183Glu) c.462T>A (p.Asp154Glu) n.501T>A | dbSNP gnomAD v3 gnomAD v4 |
17 | g.45991468T>C | CA500370454 | MAPT | c.351T>C (p.Asp117=) c.264T>C (p.Asp88=) n.503T>C c.438T>C (p.Asp146=) n.302T>C c.1614T>C (p.Asp538=) c.1416T>C (p.Asp472=) c.1389T>C (p.Asp463=) n.392T>C n.5723T>C c.1701T>C (p.Asp567=) c.1527T>C (p.Asp509=) c.1503T>C (p.Asp501=) c.636T>C (p.Asp212=) c.549T>C (p.Asp183=) c.462T>C (p.Asp154=) n.501T>C | dbSNP gnomAD v2 gnomAD v4 |
17 | g.45991468T>G | CA399977558 | MAPT | c.351T>G (p.Asp117Glu) c.264T>G (p.Asp88Glu) n.503T>G c.438T>G (p.Asp146Glu) n.302T>G c.1614T>G (p.Asp538Glu) c.1416T>G (p.Asp472Glu) c.1389T>G (p.Asp463Glu) n.392T>G n.5723T>G c.1701T>G (p.Asp567Glu) c.1527T>G (p.Asp509Glu) c.1503T>G (p.Asp501Glu) c.636T>G (p.Asp212Glu) c.549T>G (p.Asp183Glu) c.462T>G (p.Asp154Glu) n.501T>G | |
17 | g.45991468T= | CA2262092858 | MAPT | c.351T= (p.Asp117=) c.264T= (p.Asp88=) n.503T= c.438T= (p.Asp146=) n.302T= c.1614T= (p.Asp538=) c.1416T= (p.Asp472=) c.1389T= (p.Asp463=) n.392T= n.5723T= c.1701T= (p.Asp567=) c.1527T= (p.Asp509=) c.1503T= (p.Asp501=) c.636T= (p.Asp212=) c.549T= (p.Asp183=) c.462T= (p.Asp154=) n.501T= | |
17 | g.45991469G>A | CA399977559 | MAPT | c.352G>A (p.Gly118Ser) c.265G>A (p.Gly89Ser) n.504G>A c.439G>A (p.Gly147Ser) n.303G>A c.1615G>A (p.Gly539Ser) c.1417G>A (p.Gly473Ser) c.1390G>A (p.Gly464Ser) n.393G>A n.5724G>A c.1702G>A (p.Gly568Ser) c.1528G>A (p.Gly510Ser) c.1504G>A (p.Gly502Ser) c.637G>A (p.Gly213Ser) c.550G>A (p.Gly184Ser) c.463G>A (p.Gly155Ser) n.502G>A | |
17 | g.45991469G>C | CA399977560 | MAPT | c.352G>C (p.Gly118Arg) c.265G>C (p.Gly89Arg) n.504G>C c.439G>C (p.Gly147Arg) n.303G>C c.1615G>C (p.Gly539Arg) c.1417G>C (p.Gly473Arg) c.1390G>C (p.Gly464Arg) n.393G>C n.5724G>C c.1702G>C (p.Gly568Arg) c.1528G>C (p.Gly510Arg) c.1504G>C (p.Gly502Arg) c.637G>C (p.Gly213Arg) c.550G>C (p.Gly184Arg) c.463G>C (p.Gly155Arg) n.502G>C | |
17 | g.45991469G>T | CA399977561 | MAPT | c.352G>T (p.Gly118Cys) c.265G>T (p.Gly89Cys) n.504G>T c.439G>T (p.Gly147Cys) n.303G>T c.1615G>T (p.Gly539Cys) c.1417G>T (p.Gly473Cys) c.1390G>T (p.Gly464Cys) n.393G>T n.5724G>T c.1702G>T (p.Gly568Cys) c.1528G>T (p.Gly510Cys) c.1504G>T (p.Gly502Cys) c.637G>T (p.Gly213Cys) c.550G>T (p.Gly184Cys) c.463G>T (p.Gly155Cys) n.502G>T | |
17 | g.45991470G>A | CA399977562 | MAPT | c.353G>A (p.Gly118Asp) c.266G>A (p.Gly89Asp) n.505G>A c.440G>A (p.Gly147Asp) n.304G>A c.1616G>A (p.Gly539Asp) c.1418G>A (p.Gly473Asp) c.1391G>A (p.Gly464Asp) n.394G>A n.5725G>A c.1703G>A (p.Gly568Asp) c.1529G>A (p.Gly510Asp) c.1505G>A (p.Gly502Asp) c.638G>A (p.Gly213Asp) c.551G>A (p.Gly184Asp) c.464G>A (p.Gly155Asp) n.503G>A | dbSNP |
17 | g.45991470G>C | CA399977563 | MAPT | c.353G>C (p.Gly118Ala) c.266G>C (p.Gly89Ala) n.505G>C c.440G>C (p.Gly147Ala) n.304G>C c.1616G>C (p.Gly539Ala) c.1418G>C (p.Gly473Ala) c.1391G>C (p.Gly464Ala) n.394G>C n.5725G>C c.1703G>C (p.Gly568Ala) c.1529G>C (p.Gly510Ala) c.1505G>C (p.Gly502Ala) c.638G>C (p.Gly213Ala) c.551G>C (p.Gly184Ala) c.464G>C (p.Gly155Ala) n.503G>C | dbSNP gnomAD v2 gnomAD v4 |
17 | g.45991470G= | CA2262092859 | MAPT | c.353G= (p.Gly118=) c.266G= (p.Gly89=) n.505G= c.440G= (p.Gly147=) n.304G= c.1616G= (p.Gly539=) c.1418G= (p.Gly473=) c.1391G= (p.Gly464=) n.394G= n.5725G= c.1703G= (p.Gly568=) c.1529G= (p.Gly510=) c.1505G= (p.Gly502=) c.638G= (p.Gly213=) c.551G= (p.Gly184=) c.464G= (p.Gly155=) n.503G= | |
17 | g.45991470G>T | CA399977564 | MAPT | c.353G>T (p.Gly118Val) c.266G>T (p.Gly89Val) n.505G>T c.440G>T (p.Gly147Val) n.304G>T c.1616G>T (p.Gly539Val) c.1418G>T (p.Gly473Val) c.1391G>T (p.Gly464Val) n.394G>T n.5725G>T c.1703G>T (p.Gly568Val) c.1529G>T (p.Gly510Val) c.1505G>T (p.Gly502Val) c.638G>T (p.Gly213Val) c.551G>T (p.Gly184Val) c.464G>T (p.Gly155Val) n.503G>T | dbSNP |
17 | g.45991471T>A | CA500370457 | MAPT | c.354T>A (p.Gly118=) c.267T>A (p.Gly89=) n.506T>A c.441T>A (p.Gly147=) n.305T>A c.1617T>A (p.Gly539=) c.1419T>A (p.Gly473=) c.1392T>A (p.Gly464=) n.395T>A n.5726T>A c.1704T>A (p.Gly568=) c.1530T>A (p.Gly510=) c.1506T>A (p.Gly502=) c.639T>A (p.Gly213=) c.552T>A (p.Gly184=) c.465T>A (p.Gly155=) n.504T>A | |
17 | g.45991471T>C | CA500370455 | MAPT | c.354T>C (p.Gly118=) c.267T>C (p.Gly89=) n.506T>C c.441T>C (p.Gly147=) n.305T>C c.1617T>C (p.Gly539=) c.1419T>C (p.Gly473=) c.1392T>C (p.Gly464=) n.395T>C n.5726T>C c.1704T>C (p.Gly568=) c.1530T>C (p.Gly510=) c.1506T>C (p.Gly502=) c.639T>C (p.Gly213=) c.552T>C (p.Gly184=) c.465T>C (p.Gly155=) n.504T>C | gnomAD v4 |
17 | g.45991471T>G | CA500370456 | MAPT | c.354T>G (p.Gly118=) c.267T>G (p.Gly89=) n.506T>G c.441T>G (p.Gly147=) n.305T>G c.1617T>G (p.Gly539=) c.1419T>G (p.Gly473=) c.1392T>G (p.Gly464=) n.395T>G n.5726T>G c.1704T>G (p.Gly568=) c.1530T>G (p.Gly510=) c.1506T>G (p.Gly502=) c.639T>G (p.Gly213=) c.552T>G (p.Gly184=) c.465T>G (p.Gly155=) n.504T>G | |
17 | g.45991471_45991472delinsTA | CA2262092860 | MAPT | c.354_355delinsTA (p.Gly118=) c.267_268delinsTA (p.Gly89=) n.506_507delinsTA c.441_442delinsTA (p.Gly147=) n.305_306delinsTA c.1617_1618delinsTA (p.Gly539=) c.1419_1420delinsTA (p.Gly473=) c.1392_1393delinsTA (p.Gly464=) n.395_396delinsTA n.5726_5727delinsTA c.1704_1705delinsTA (p.Gly568=) c.1530_1531delinsTA (p.Gly510=) c.1506_1507delinsTA (p.Gly502=) c.639_640delinsTA (p.Gly213=) c.552_553delinsTA (p.Gly184=) c.465_466delinsTA (p.Gly155=) n.504_505delinsTA | |
17 | g.45991472A>C | CA399977565 | MAPT | c.355A>C (p.Lys119Gln) c.268A>C (p.Lys90Gln) n.507A>C c.442A>C (p.Lys148Gln) n.306A>C c.1618A>C (p.Lys540Gln) c.1420A>C (p.Lys474Gln) c.1393A>C (p.Lys465Gln) n.396A>C n.5727A>C c.1705A>C (p.Lys569Gln) c.1531A>C (p.Lys511Gln) c.1507A>C (p.Lys503Gln) c.640A>C (p.Lys214Gln) c.553A>C (p.Lys185Gln) c.466A>C (p.Lys156Gln) n.505A>C | |
17 | g.45991472A>G | CA399977566 | MAPT | c.355A>G (p.Lys119Glu) c.268A>G (p.Lys90Glu) n.507A>G c.442A>G (p.Lys148Glu) n.306A>G c.1618A>G (p.Lys540Glu) c.1420A>G (p.Lys474Glu) c.1393A>G (p.Lys465Glu) n.396A>G n.5727A>G c.1705A>G (p.Lys569Glu) c.1531A>G (p.Lys511Glu) c.1507A>G (p.Lys503Glu) c.640A>G (p.Lys214Glu) c.553A>G (p.Lys185Glu) c.466A>G (p.Lys156Glu) n.505A>G | |
17 | g.45991472A>T | CA399977567 | MAPT | c.355A>T (p.Lys119Ter) c.268A>T (p.Lys90Ter) n.507A>T c.442A>T (p.Lys148Ter) n.306A>T c.1618A>T (p.Lys540Ter) c.1420A>T (p.Lys474Ter) c.1393A>T (p.Lys465Ter) n.396A>T n.5727A>T c.1705A>T (p.Lys569Ter) c.1531A>T (p.Lys511Ter) c.1507A>T (p.Lys503Ter) c.640A>T (p.Lys214Ter) c.553A>T (p.Lys185Ter) c.466A>T (p.Lys156Ter) n.505A>T | |
17 | g.45991474_45991475dup | CA2638369690 | MAPT | c.357_358dup (p.Thr120LysfsTer?) c.270_271dup (p.Thr91LysfsTer?) n.509_510dup c.444_445dup (p.Thr149LysfsTer?) n.308_309dup c.1620_1621dup (p.Thr541LysfsTer?) c.1422_1423dup (p.Thr475LysfsTer?) c.1395_1396dup (p.Thr466LysfsTer?) n.398_399dup n.5729_5730dup c.1707_1708dup (p.Thr570LysfsTer?) c.1533_1534dup (p.Thr512LysfsTer?) c.1509_1510dup (p.Thr504LysfsTer?) c.642_643dup (p.Thr215LysfsTer?) c.555_556dup (p.Thr186LysfsTer?) c.468_469dup (p.Thr157LysfsTer?) n.507_508dup | gnomAD v4 |
17 | g.45991475del | CA291106234 | MAPT | c.358del (p.Thr120ArgfsTer?) c.271del (p.Thr91ArgfsTer?) n.510del c.445del (p.Thr149ArgfsTer?) n.309del c.1621del (p.Thr541ArgfsTer?) c.1423del (p.Thr475ArgfsTer?) c.1396del (p.Thr466ArgfsTer?) n.399del n.5730del c.1708del (p.Thr570ArgfsTer?) c.1534del (p.Thr512ArgfsTer?) c.1510del (p.Thr504ArgfsTer?) c.643del (p.Thr215ArgfsTer?) c.556del (p.Thr186ArgfsTer?) c.469del (p.Thr157ArgfsTer?) n.508del | dbSNP |
17 | g.45991473A>C | CA399977568 | MAPT | c.356A>C (p.Lys119Thr) c.269A>C (p.Lys90Thr) n.508A>C c.443A>C (p.Lys148Thr) n.307A>C c.1619A>C (p.Lys540Thr) c.1421A>C (p.Lys474Thr) c.1394A>C (p.Lys465Thr) n.397A>C n.5728A>C c.1706A>C (p.Lys569Thr) c.1532A>C (p.Lys511Thr) c.1508A>C (p.Lys503Thr) c.641A>C (p.Lys214Thr) c.554A>C (p.Lys185Thr) c.467A>C (p.Lys156Thr) n.506A>C | |
17 | g.45991473A>G | CA399977570 | MAPT | c.356A>G (p.Lys119Arg) c.269A>G (p.Lys90Arg) n.508A>G c.443A>G (p.Lys148Arg) n.307A>G c.1619A>G (p.Lys540Arg) c.1421A>G (p.Lys474Arg) c.1394A>G (p.Lys465Arg) n.397A>G n.5728A>G c.1706A>G (p.Lys569Arg) c.1532A>G (p.Lys511Arg) c.1508A>G (p.Lys503Arg) c.641A>G (p.Lys214Arg) c.554A>G (p.Lys185Arg) c.467A>G (p.Lys156Arg) n.506A>G | |
17 | g.45991473A>T | CA399977569 | MAPT | c.356A>T (p.Lys119Ile) c.269A>T (p.Lys90Ile) n.508A>T c.443A>T (p.Lys148Ile) n.307A>T c.1619A>T (p.Lys540Ile) c.1421A>T (p.Lys474Ile) c.1394A>T (p.Lys465Ile) n.397A>T n.5728A>T c.1706A>T (p.Lys569Ile) c.1532A>T (p.Lys511Ile) c.1508A>T (p.Lys503Ile) c.641A>T (p.Lys214Ile) c.554A>T (p.Lys185Ile) c.467A>T (p.Lys156Ile) n.506A>T | |
17 | g.45991474A>C | CA399977571 | MAPT | c.357A>C (p.Lys119Asn) c.270A>C (p.Lys90Asn) n.509A>C c.444A>C (p.Lys148Asn) n.308A>C c.1620A>C (p.Lys540Asn) c.1422A>C (p.Lys474Asn) c.1395A>C (p.Lys465Asn) n.398A>C n.5729A>C c.1707A>C (p.Lys569Asn) c.1533A>C (p.Lys511Asn) c.1509A>C (p.Lys503Asn) c.642A>C (p.Lys214Asn) c.555A>C (p.Lys185Asn) c.468A>C (p.Lys156Asn) n.507A>C | |
17 | g.45991474A>G | CA500370458 | MAPT | c.357A>G (p.Lys119=) c.270A>G (p.Lys90=) n.509A>G c.444A>G (p.Lys148=) n.308A>G c.1620A>G (p.Lys540=) c.1422A>G (p.Lys474=) c.1395A>G (p.Lys465=) n.398A>G n.5729A>G c.1707A>G (p.Lys569=) c.1533A>G (p.Lys511=) c.1509A>G (p.Lys503=) c.642A>G (p.Lys214=) c.555A>G (p.Lys185=) c.468A>G (p.Lys156=) n.507A>G | |
17 | g.45991474A>T | CA399977572 | MAPT | c.357A>T (p.Lys119Asn) c.270A>T (p.Lys90Asn) n.509A>T c.444A>T (p.Lys148Asn) n.308A>T c.1620A>T (p.Lys540Asn) c.1422A>T (p.Lys474Asn) c.1395A>T (p.Lys465Asn) n.398A>T n.5729A>T c.1707A>T (p.Lys569Asn) c.1533A>T (p.Lys511Asn) c.1509A>T (p.Lys503Asn) c.642A>T (p.Lys214Asn) c.555A>T (p.Lys185Asn) c.468A>T (p.Lys156Asn) n.507A>T | |
17 | g.45991475A= | CA2262092861 | MAPT | c.358A= (p.Thr120=) c.271A= (p.Thr91=) n.510A= c.445A= (p.Thr149=) n.309A= c.1621A= (p.Thr541=) c.1423A= (p.Thr475=) c.1396A= (p.Thr466=) n.399A= n.5730A= c.1708A= (p.Thr570=) c.1534A= (p.Thr512=) c.1510A= (p.Thr504=) c.643A= (p.Thr215=) c.556A= (p.Thr186=) c.469A= (p.Thr157=) n.508A= | |
17 | g.45991475A>C | CA399977573 | MAPT | c.358A>C (p.Thr120Pro) c.271A>C (p.Thr91Pro) n.510A>C c.445A>C (p.Thr149Pro) n.309A>C c.1621A>C (p.Thr541Pro) c.1423A>C (p.Thr475Pro) c.1396A>C (p.Thr466Pro) n.399A>C n.5730A>C c.1708A>C (p.Thr570Pro) c.1534A>C (p.Thr512Pro) c.1510A>C (p.Thr504Pro) c.643A>C (p.Thr215Pro) c.556A>C (p.Thr186Pro) c.469A>C (p.Thr157Pro) n.508A>C | |
17 | g.45991475A>G | CA399977574 | MAPT | c.358A>G (p.Thr120Ala) c.271A>G (p.Thr91Ala) n.510A>G c.445A>G (p.Thr149Ala) n.309A>G c.1621A>G (p.Thr541Ala) c.1423A>G (p.Thr475Ala) c.1396A>G (p.Thr466Ala) n.399A>G n.5730A>G c.1708A>G (p.Thr570Ala) c.1534A>G (p.Thr512Ala) c.1510A>G (p.Thr504Ala) c.643A>G (p.Thr215Ala) c.556A>G (p.Thr186Ala) c.469A>G (p.Thr157Ala) n.508A>G | |
17 | g.45991475A>T | CA399977575 | MAPT | c.358A>T (p.Thr120Ser) c.271A>T (p.Thr91Ser) n.510A>T c.445A>T (p.Thr149Ser) n.309A>T c.1621A>T (p.Thr541Ser) c.1423A>T (p.Thr475Ser) c.1396A>T (p.Thr466Ser) n.399A>T n.5730A>T c.1708A>T (p.Thr570Ser) c.1534A>T (p.Thr512Ser) c.1510A>T (p.Thr504Ser) c.643A>T (p.Thr215Ser) c.556A>T (p.Thr186Ser) c.469A>T (p.Thr157Ser) n.508A>T | dbSNP |
17 | g.45991476C>A | CA399977576 | MAPT | c.359C>A (p.Thr120Lys) c.272C>A (p.Thr91Lys) n.511C>A c.446C>A (p.Thr149Lys) n.310C>A c.1622C>A (p.Thr541Lys) c.1424C>A (p.Thr475Lys) c.1397C>A (p.Thr466Lys) n.400C>A n.5731C>A c.1709C>A (p.Thr570Lys) c.1535C>A (p.Thr512Lys) c.1511C>A (p.Thr504Lys) c.644C>A (p.Thr215Lys) c.557C>A (p.Thr186Lys) c.470C>A (p.Thr157Lys) n.509C>A | |
17 | g.45991476C= | CA2262092862 | MAPT | c.359C= (p.Thr120=) c.272C= (p.Thr91=) n.511C= c.446C= (p.Thr149=) n.310C= c.1622C= (p.Thr541=) c.1424C= (p.Thr475=) c.1397C= (p.Thr466=) n.400C= n.5731C= c.1709C= (p.Thr570=) c.1535C= (p.Thr512=) c.1511C= (p.Thr504=) c.644C= (p.Thr215=) c.557C= (p.Thr186=) c.470C= (p.Thr157=) n.509C= | |
17 | g.45991476C>G | CA399977577 | MAPT | c.359C>G (p.Thr120Arg) c.272C>G (p.Thr91Arg) n.511C>G c.446C>G (p.Thr149Arg) n.310C>G c.1622C>G (p.Thr541Arg) c.1424C>G (p.Thr475Arg) c.1397C>G (p.Thr466Arg) n.400C>G n.5731C>G c.1709C>G (p.Thr570Arg) c.1535C>G (p.Thr512Arg) c.1511C>G (p.Thr504Arg) c.644C>G (p.Thr215Arg) c.557C>G (p.Thr186Arg) c.470C>G (p.Thr157Arg) n.509C>G | |
17 | g.45991476C>T | CA291106236 | MAPT | c.359C>T (p.Thr120Met) c.272C>T (p.Thr91Met) n.511C>T c.446C>T (p.Thr149Met) n.310C>T c.1622C>T (p.Thr541Met) c.1424C>T (p.Thr475Met) c.1397C>T (p.Thr466Met) n.400C>T n.5731C>T c.1709C>T (p.Thr570Met) c.1535C>T (p.Thr512Met) c.1511C>T (p.Thr504Met) c.644C>T (p.Thr215Met) c.557C>T (p.Thr186Met) c.470C>T (p.Thr157Met) n.509C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.45991477G>A | CA8617959 | MAPT | c.360G>A (p.Thr120=) c.273G>A (p.Thr91=) n.512G>A c.447G>A (p.Thr149=) n.311G>A c.1623G>A (p.Thr541=) c.1425G>A (p.Thr475=) c.1398G>A (p.Thr466=) n.401G>A n.5732G>A c.1710G>A (p.Thr570=) c.1536G>A (p.Thr512=) c.1512G>A (p.Thr504=) c.645G>A (p.Thr215=) c.558G>A (p.Thr186=) c.471G>A (p.Thr157=) n.510G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.45991477G>C | CA500370459 | MAPT | c.360G>C (p.Thr120=) c.273G>C (p.Thr91=) n.512G>C c.447G>C (p.Thr149=) n.311G>C c.1623G>C (p.Thr541=) c.1425G>C (p.Thr475=) c.1398G>C (p.Thr466=) n.401G>C n.5732G>C c.1710G>C (p.Thr570=) c.1536G>C (p.Thr512=) c.1512G>C (p.Thr504=) c.645G>C (p.Thr215=) c.558G>C (p.Thr186=) c.471G>C (p.Thr157=) n.510G>C | |
17 | g.45991477G= | CA2262092863 | MAPT | c.360G= (p.Thr120=) c.273G= (p.Thr91=) n.512G= c.447G= (p.Thr149=) n.311G= c.1623G= (p.Thr541=) c.1425G= (p.Thr475=) c.1398G= (p.Thr466=) n.401G= n.5732G= c.1710G= (p.Thr570=) c.1536G= (p.Thr512=) c.1512G= (p.Thr504=) c.645G= (p.Thr215=) c.558G= (p.Thr186=) c.471G= (p.Thr157=) n.510G= | |
17 | g.45991477G>T | CA500370460 | MAPT | c.360G>T (p.Thr120=) c.273G>T (p.Thr91=) n.512G>T c.447G>T (p.Thr149=) n.311G>T c.1623G>T (p.Thr541=) c.1425G>T (p.Thr475=) c.1398G>T (p.Thr466=) n.401G>T n.5732G>T c.1710G>T (p.Thr570=) c.1536G>T (p.Thr512=) c.1512G>T (p.Thr504=) c.645G>T (p.Thr215=) c.558G>T (p.Thr186=) c.471G>T (p.Thr157=) n.510G>T | |
17 | g.45991479_45991481del | CA2638369705 | MAPT | c.362_364del (p.Lys121del) c.275_277del (p.Lys92del) n.514_516del c.449_451del (p.Lys150del) n.313_315del c.1625_1627del (p.Lys542del) c.1427_1429del (p.Lys476del) c.1400_1402del (p.Lys467del) n.403_405del n.5734_5736del c.1712_1714del (p.Lys571del) c.1538_1540del (p.Lys513del) c.1514_1516del (p.Lys505del) c.647_649del (p.Lys216del) c.560_562del (p.Lys187del) c.473_475del (p.Lys158del) n.512_514del | gnomAD v4 |
17 | g.45991478A>C | CA399977579 | MAPT | c.361A>C (p.Lys121Gln) c.274A>C (p.Lys92Gln) n.513A>C c.448A>C (p.Lys150Gln) n.312A>C c.1624A>C (p.Lys542Gln) c.1426A>C (p.Lys476Gln) c.1399A>C (p.Lys467Gln) n.402A>C n.5733A>C c.1711A>C (p.Lys571Gln) c.1537A>C (p.Lys513Gln) c.1513A>C (p.Lys505Gln) c.646A>C (p.Lys216Gln) c.559A>C (p.Lys187Gln) c.472A>C (p.Lys158Gln) n.511A>C | |
17 | g.45991478A>G | CA399977580 | MAPT | c.361A>G (p.Lys121Glu) c.274A>G (p.Lys92Glu) n.513A>G c.448A>G (p.Lys150Glu) n.312A>G c.1624A>G (p.Lys542Glu) c.1426A>G (p.Lys476Glu) c.1399A>G (p.Lys467Glu) n.402A>G n.5733A>G c.1711A>G (p.Lys571Glu) c.1537A>G (p.Lys513Glu) c.1513A>G (p.Lys505Glu) c.646A>G (p.Lys216Glu) c.559A>G (p.Lys187Glu) c.472A>G (p.Lys158Glu) n.511A>G | |
17 | g.45991478A>T | CA399977578 | MAPT | c.361A>T (p.Lys121Ter) c.274A>T (p.Lys92Ter) n.513A>T c.448A>T (p.Lys150Ter) n.312A>T c.1624A>T (p.Lys542Ter) c.1426A>T (p.Lys476Ter) c.1399A>T (p.Lys467Ter) n.402A>T n.5733A>T c.1711A>T (p.Lys571Ter) c.1537A>T (p.Lys513Ter) c.1513A>T (p.Lys505Ter) c.646A>T (p.Lys216Ter) c.559A>T (p.Lys187Ter) c.472A>T (p.Lys158Ter) n.511A>T | |
17 | g.45991479A>C | CA399977581 | MAPT | c.362A>C (p.Lys121Thr) c.275A>C (p.Lys92Thr) n.514A>C c.449A>C (p.Lys150Thr) n.313A>C c.1625A>C (p.Lys542Thr) c.1427A>C (p.Lys476Thr) c.1400A>C (p.Lys467Thr) n.403A>C n.5734A>C c.1712A>C (p.Lys571Thr) c.1538A>C (p.Lys513Thr) c.1514A>C (p.Lys505Thr) c.647A>C (p.Lys216Thr) c.560A>C (p.Lys187Thr) c.473A>C (p.Lys158Thr) n.512A>C | COSMIC COSMIC |
17 | g.45991479A>G | CA399977582 | MAPT | c.362A>G (p.Lys121Arg) c.275A>G (p.Lys92Arg) n.514A>G c.449A>G (p.Lys150Arg) n.313A>G c.1625A>G (p.Lys542Arg) c.1427A>G (p.Lys476Arg) c.1400A>G (p.Lys467Arg) n.403A>G n.5734A>G c.1712A>G (p.Lys571Arg) c.1538A>G (p.Lys513Arg) c.1514A>G (p.Lys505Arg) c.647A>G (p.Lys216Arg) c.560A>G (p.Lys187Arg) c.473A>G (p.Lys158Arg) n.512A>G | |
17 | g.45991479A>T | CA399977583 | MAPT | c.362A>T (p.Lys121Met) c.275A>T (p.Lys92Met) n.514A>T c.449A>T (p.Lys150Met) n.313A>T c.1625A>T (p.Lys542Met) c.1427A>T (p.Lys476Met) c.1400A>T (p.Lys467Met) n.403A>T n.5734A>T c.1712A>T (p.Lys571Met) c.1538A>T (p.Lys513Met) c.1514A>T (p.Lys505Met) c.647A>T (p.Lys216Met) c.560A>T (p.Lys187Met) c.473A>T (p.Lys158Met) n.512A>T | |
17 | g.45991480G>A | CA500370461 | MAPT | c.363G>A (p.Lys121=) c.276G>A (p.Lys92=) n.515G>A c.450G>A (p.Lys150=) n.314G>A c.1626G>A (p.Lys542=) c.1428G>A (p.Lys476=) c.1401G>A (p.Lys467=) n.404G>A n.5735G>A c.1713G>A (p.Lys571=) c.1539G>A (p.Lys513=) c.1515G>A (p.Lys505=) c.648G>A (p.Lys216=) c.561G>A (p.Lys187=) c.474G>A (p.Lys158=) n.513G>A | |
17 | g.45991480G>C | CA399977584 | MAPT | c.363G>C (p.Lys121Asn) c.276G>C (p.Lys92Asn) n.515G>C c.450G>C (p.Lys150Asn) n.314G>C c.1626G>C (p.Lys542Asn) c.1428G>C (p.Lys476Asn) c.1401G>C (p.Lys467Asn) n.404G>C n.5735G>C c.1713G>C (p.Lys571Asn) c.1539G>C (p.Lys513Asn) c.1515G>C (p.Lys505Asn) c.648G>C (p.Lys216Asn) c.561G>C (p.Lys187Asn) c.474G>C (p.Lys158Asn) n.513G>C | gnomAD v4 |
17 | g.45991480G>T | CA399977585 | MAPT | c.363G>T (p.Lys121Asn) c.276G>T (p.Lys92Asn) n.515G>T c.450G>T (p.Lys150Asn) n.314G>T c.1626G>T (p.Lys542Asn) c.1428G>T (p.Lys476Asn) c.1401G>T (p.Lys467Asn) n.404G>T n.5735G>T c.1713G>T (p.Lys571Asn) c.1539G>T (p.Lys513Asn) c.1515G>T (p.Lys505Asn) c.648G>T (p.Lys216Asn) c.561G>T (p.Lys187Asn) c.474G>T (p.Lys158Asn) n.513G>T | |
17 | g.45991481A= | CA2262092864 | MAPT | c.364A= (p.Ile122=) c.277A= (p.Ile93=) n.516A= c.451A= (p.Ile151=) n.315A= c.1627A= (p.Ile543=) c.1429A= (p.Ile477=) c.1402A= (p.Ile468=) n.405A= n.5736A= c.1714A= (p.Ile572=) c.1540A= (p.Ile514=) c.1516A= (p.Ile506=) c.649A= (p.Ile217=) c.562A= (p.Ile188=) c.475A= (p.Ile159=) n.514A= | |
17 | g.45991481A>C | CA399977586 | MAPT | c.364A>C (p.Ile122Leu) c.277A>C (p.Ile93Leu) n.516A>C c.451A>C (p.Ile151Leu) n.315A>C c.1627A>C (p.Ile543Leu) c.1429A>C (p.Ile477Leu) c.1402A>C (p.Ile468Leu) n.405A>C n.5736A>C c.1714A>C (p.Ile572Leu) c.1540A>C (p.Ile514Leu) c.1516A>C (p.Ile506Leu) c.649A>C (p.Ile217Leu) c.562A>C (p.Ile188Leu) c.475A>C (p.Ile159Leu) n.514A>C | |
17 | g.45991481A>G | CA291106238 | MAPT | c.364A>G (p.Ile122Val) c.277A>G (p.Ile93Val) n.516A>G c.451A>G (p.Ile151Val) n.315A>G c.1627A>G (p.Ile543Val) c.1429A>G (p.Ile477Val) c.1402A>G (p.Ile468Val) n.405A>G n.5736A>G c.1714A>G (p.Ile572Val) c.1540A>G (p.Ile514Val) c.1516A>G (p.Ile506Val) c.649A>G (p.Ile217Val) c.562A>G (p.Ile188Val) c.475A>G (p.Ile159Val) n.514A>G | dbSNP gnomAD v2 gnomAD v4 |
17 | g.45991481A>T | CA399977587 | MAPT | c.364A>T (p.Ile122Phe) c.277A>T (p.Ile93Phe) n.516A>T c.451A>T (p.Ile151Phe) n.315A>T c.1627A>T (p.Ile543Phe) c.1429A>T (p.Ile477Phe) c.1402A>T (p.Ile468Phe) n.405A>T n.5736A>T c.1714A>T (p.Ile572Phe) c.1540A>T (p.Ile514Phe) c.1516A>T (p.Ile506Phe) c.649A>T (p.Ile217Phe) c.562A>T (p.Ile188Phe) c.475A>T (p.Ile159Phe) n.514A>T | |
17 | g.45991482T>A | CA399977588 | MAPT | c.365T>A (p.Ile122Asn) c.278T>A (p.Ile93Asn) n.517T>A c.452T>A (p.Ile151Asn) n.316T>A c.1628T>A (p.Ile543Asn) c.1430T>A (p.Ile477Asn) c.1403T>A (p.Ile468Asn) n.406T>A n.5737T>A c.1715T>A (p.Ile572Asn) c.1541T>A (p.Ile514Asn) c.1517T>A (p.Ile506Asn) c.650T>A (p.Ile217Asn) c.563T>A (p.Ile188Asn) c.476T>A (p.Ile159Asn) n.515T>A | |
17 | g.45991482T>C | CA8617960 | MAPT | c.365T>C (p.Ile122Thr) c.278T>C (p.Ile93Thr) n.517T>C c.452T>C (p.Ile151Thr) n.316T>C c.1628T>C (p.Ile543Thr) c.1430T>C (p.Ile477Thr) c.1403T>C (p.Ile468Thr) n.406T>C n.5737T>C c.1715T>C (p.Ile572Thr) c.1541T>C (p.Ile514Thr) c.1517T>C (p.Ile506Thr) c.650T>C (p.Ile217Thr) c.563T>C (p.Ile188Thr) c.476T>C (p.Ile159Thr) n.515T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.45991482T>G | CA399977589 | MAPT | c.365T>G (p.Ile122Ser) c.278T>G (p.Ile93Ser) n.517T>G c.452T>G (p.Ile151Ser) n.316T>G c.1628T>G (p.Ile543Ser) c.1430T>G (p.Ile477Ser) c.1403T>G (p.Ile468Ser) n.406T>G n.5737T>G c.1715T>G (p.Ile572Ser) c.1541T>G (p.Ile514Ser) c.1517T>G (p.Ile506Ser) c.650T>G (p.Ile217Ser) c.563T>G (p.Ile188Ser) c.476T>G (p.Ile159Ser) n.515T>G | |
17 | g.45991482T= | CA2262092865 | MAPT | c.365T= (p.Ile122=) c.278T= (p.Ile93=) n.517T= c.452T= (p.Ile151=) n.316T= c.1628T= (p.Ile543=) c.1430T= (p.Ile477=) c.1403T= (p.Ile468=) n.406T= n.5737T= c.1715T= (p.Ile572=) c.1541T= (p.Ile514=) c.1517T= (p.Ile506=) c.650T= (p.Ile217=) c.563T= (p.Ile188=) c.476T= (p.Ile159=) n.515T= | |
17 | g.45991483C>A | CA500370462 | MAPT | c.366C>A (p.Ile122=) c.279C>A (p.Ile93=) n.518C>A c.453C>A (p.Ile151=) n.317C>A c.1629C>A (p.Ile543=) c.1431C>A (p.Ile477=) c.1404C>A (p.Ile468=) n.407C>A n.5738C>A c.1716C>A (p.Ile572=) c.1542C>A (p.Ile514=) c.1518C>A (p.Ile506=) c.651C>A (p.Ile217=) c.564C>A (p.Ile188=) c.477C>A (p.Ile159=) n.516C>A | dbSNP gnomAD v3 gnomAD v4 |
17 | g.45991483C= | CA2262092866 | MAPT | c.366C= (p.Ile122=) c.279C= (p.Ile93=) n.518C= c.453C= (p.Ile151=) n.317C= c.1629C= (p.Ile543=) c.1431C= (p.Ile477=) c.1404C= (p.Ile468=) n.407C= n.5738C= c.1716C= (p.Ile572=) c.1542C= (p.Ile514=) c.1518C= (p.Ile506=) c.651C= (p.Ile217=) c.564C= (p.Ile188=) c.477C= (p.Ile159=) n.516C= | |
17 | g.45991483C>G | CA399977590 | MAPT | c.366C>G (p.Ile122Met) c.279C>G (p.Ile93Met) n.518C>G c.453C>G (p.Ile151Met) n.317C>G c.1629C>G (p.Ile543Met) c.1431C>G (p.Ile477Met) c.1404C>G (p.Ile468Met) n.407C>G n.5738C>G c.1716C>G (p.Ile572Met) c.1542C>G (p.Ile514Met) c.1518C>G (p.Ile506Met) c.651C>G (p.Ile217Met) c.564C>G (p.Ile188Met) c.477C>G (p.Ile159Met) n.516C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.45991483C>T | CA8617961 | MAPT | c.366C>T (p.Ile122=) c.279C>T (p.Ile93=) n.518C>T c.453C>T (p.Ile151=) n.317C>T c.1629C>T (p.Ile543=) c.1431C>T (p.Ile477=) c.1404C>T (p.Ile468=) n.407C>T n.5738C>T c.1716C>T (p.Ile572=) c.1542C>T (p.Ile514=) c.1518C>T (p.Ile506=) c.651C>T (p.Ile217=) c.564C>T (p.Ile188=) c.477C>T (p.Ile159=) n.516C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.45991484G>A | CA8617962 | MAPT | c.367G>A (p.Ala123Thr) c.280G>A (p.Ala94Thr) n.519G>A c.454G>A (p.Ala152Thr) n.318G>A c.1630G>A (p.Ala544Thr) c.1432G>A (p.Ala478Thr) c.1405G>A (p.Ala469Thr) n.408G>A n.5739G>A c.1717G>A (p.Ala573Thr) c.1543G>A (p.Ala515Thr) c.1519G>A (p.Ala507Thr) c.652G>A (p.Ala218Thr) c.565G>A (p.Ala189Thr) c.478G>A (p.Ala160Thr) n.517G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.45991484G>C | CA399977591 | MAPT | c.367G>C (p.Ala123Pro) c.280G>C (p.Ala94Pro) n.519G>C c.454G>C (p.Ala152Pro) n.318G>C c.1630G>C (p.Ala544Pro) c.1432G>C (p.Ala478Pro) c.1405G>C (p.Ala469Pro) n.408G>C n.5739G>C c.1717G>C (p.Ala573Pro) c.1543G>C (p.Ala515Pro) c.1519G>C (p.Ala507Pro) c.652G>C (p.Ala218Pro) c.565G>C (p.Ala189Pro) c.478G>C (p.Ala160Pro) n.517G>C | |
17 | g.45991484G= | CA2262092867 | MAPT | c.367G= (p.Ala123=) c.280G= (p.Ala94=) n.519G= c.454G= (p.Ala152=) n.318G= c.1630G= (p.Ala544=) c.1432G= (p.Ala478=) c.1405G= (p.Ala469=) n.408G= n.5739G= c.1717G= (p.Ala573=) c.1543G= (p.Ala515=) c.1519G= (p.Ala507=) c.652G= (p.Ala218=) c.565G= (p.Ala189=) c.478G= (p.Ala160=) n.517G= | |
17 | g.45991484G>T | CA8617963 | MAPT | c.367G>T (p.Ala123Ser) c.280G>T (p.Ala94Ser) n.519G>T c.454G>T (p.Ala152Ser) n.318G>T c.1630G>T (p.Ala544Ser) c.1432G>T (p.Ala478Ser) c.1405G>T (p.Ala469Ser) n.408G>T n.5739G>T c.1717G>T (p.Ala573Ser) c.1543G>T (p.Ala515Ser) c.1519G>T (p.Ala507Ser) c.652G>T (p.Ala218Ser) c.565G>T (p.Ala189Ser) c.478G>T (p.Ala160Ser) n.517G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.45991485C>A | CA399977592 | MAPT | c.368C>A (p.Ala123Asp) c.281C>A (p.Ala94Asp) n.520C>A c.455C>A (p.Ala152Asp) n.319C>A c.1631C>A (p.Ala544Asp) c.1433C>A (p.Ala478Asp) c.1406C>A (p.Ala469Asp) n.409C>A n.5740C>A c.1718C>A (p.Ala573Asp) c.1544C>A (p.Ala515Asp) c.1520C>A (p.Ala507Asp) c.653C>A (p.Ala218Asp) c.566C>A (p.Ala189Asp) c.479C>A (p.Ala160Asp) n.518C>A | |
17 | g.45991485C>G | CA399977593 | MAPT | c.368C>G (p.Ala123Gly) c.281C>G (p.Ala94Gly) n.520C>G c.455C>G (p.Ala152Gly) n.319C>G c.1631C>G (p.Ala544Gly) c.1433C>G (p.Ala478Gly) c.1406C>G (p.Ala469Gly) n.409C>G n.5740C>G c.1718C>G (p.Ala573Gly) c.1544C>G (p.Ala515Gly) c.1520C>G (p.Ala507Gly) c.653C>G (p.Ala218Gly) c.566C>G (p.Ala189Gly) c.479C>G (p.Ala160Gly) n.518C>G | |
17 | g.45991485C>T | CA399977594 | MAPT | c.368C>T (p.Ala123Val) c.281C>T (p.Ala94Val) n.520C>T c.455C>T (p.Ala152Val) n.319C>T c.1631C>T (p.Ala544Val) c.1433C>T (p.Ala478Val) c.1406C>T (p.Ala469Val) n.409C>T n.5740C>T c.1718C>T (p.Ala573Val) c.1544C>T (p.Ala515Val) c.1520C>T (p.Ala507Val) c.653C>T (p.Ala218Val) c.566C>T (p.Ala189Val) c.479C>T (p.Ala160Val) n.518C>T | |
17 | g.45991486C>A | CA8617964 | MAPT | c.369C>A (p.Ala123=) c.282C>A (p.Ala94=) n.521C>A c.456C>A (p.Ala152=) n.320C>A c.1632C>A (p.Ala544=) c.1434C>A (p.Ala478=) c.1407C>A (p.Ala469=) n.410C>A n.5741C>A c.1719C>A (p.Ala573=) c.1545C>A (p.Ala515=) c.1521C>A (p.Ala507=) c.654C>A (p.Ala218=) c.567C>A (p.Ala189=) c.480C>A (p.Ala160=) n.519C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.45991486C= | CA2262092868 | MAPT | c.369C= (p.Ala123=) c.282C= (p.Ala94=) n.521C= c.456C= (p.Ala152=) n.320C= c.1632C= (p.Ala544=) c.1434C= (p.Ala478=) c.1407C= (p.Ala469=) n.410C= n.5741C= c.1719C= (p.Ala573=) c.1545C= (p.Ala515=) c.1521C= (p.Ala507=) c.654C= (p.Ala218=) c.567C= (p.Ala189=) c.480C= (p.Ala160=) n.519C= | |
17 | g.45991486C>G | CA500370463 | MAPT | c.369C>G (p.Ala123=) c.282C>G (p.Ala94=) n.521C>G c.456C>G (p.Ala152=) n.320C>G c.1632C>G (p.Ala544=) c.1434C>G (p.Ala478=) c.1407C>G (p.Ala469=) n.410C>G n.5741C>G c.1719C>G (p.Ala573=) c.1545C>G (p.Ala515=) c.1521C>G (p.Ala507=) c.654C>G (p.Ala218=) c.567C>G (p.Ala189=) c.480C>G (p.Ala160=) n.519C>G | |
17 | g.45991486C>T | CA500370464 | MAPT | c.369C>T (p.Ala123=) c.282C>T (p.Ala94=) n.521C>T c.456C>T (p.Ala152=) n.320C>T c.1632C>T (p.Ala544=) c.1434C>T (p.Ala478=) c.1407C>T (p.Ala469=) n.410C>T n.5741C>T c.1719C>T (p.Ala573=) c.1545C>T (p.Ala515=) c.1521C>T (p.Ala507=) c.654C>T (p.Ala218=) c.567C>T (p.Ala189=) c.480C>T (p.Ala160=) n.519C>T | dbSNP gnomAD v2 gnomAD v4 |
17 | g.45991487A>C | CA399977595 | MAPT | c.370A>C (p.Thr124Pro) c.283A>C (p.Thr95Pro) n.522A>C c.457A>C (p.Thr153Pro) n.321A>C c.1633A>C (p.Thr545Pro) c.1435A>C (p.Thr479Pro) c.1408A>C (p.Thr470Pro) n.411A>C n.5742A>C c.1720A>C (p.Thr574Pro) c.1546A>C (p.Thr516Pro) c.1522A>C (p.Thr508Pro) c.655A>C (p.Thr219Pro) c.568A>C (p.Thr190Pro) c.481A>C (p.Thr161Pro) n.520A>C | |
17 | g.45991487A>G | CA399977596 | MAPT | c.370A>G (p.Thr124Ala) c.283A>G (p.Thr95Ala) n.522A>G c.457A>G (p.Thr153Ala) n.321A>G c.1633A>G (p.Thr545Ala) c.1435A>G (p.Thr479Ala) c.1408A>G (p.Thr470Ala) n.411A>G n.5742A>G c.1720A>G (p.Thr574Ala) c.1546A>G (p.Thr516Ala) c.1522A>G (p.Thr508Ala) c.655A>G (p.Thr219Ala) c.568A>G (p.Thr190Ala) c.481A>G (p.Thr161Ala) n.520A>G | dbSNP |
17 | g.45991487A>T | CA399977597 | MAPT | c.370A>T (p.Thr124Ser) c.283A>T (p.Thr95Ser) n.522A>T c.457A>T (p.Thr153Ser) n.321A>T c.1633A>T (p.Thr545Ser) c.1435A>T (p.Thr479Ser) c.1408A>T (p.Thr470Ser) n.411A>T n.5742A>T c.1720A>T (p.Thr574Ser) c.1546A>T (p.Thr516Ser) c.1522A>T (p.Thr508Ser) c.655A>T (p.Thr219Ser) c.568A>T (p.Thr190Ser) c.481A>T (p.Thr161Ser) n.520A>T | |
17 | g.45991488C>A | CA399977598 | MAPT | c.371C>A (p.Thr124Lys) c.284C>A (p.Thr95Lys) n.523C>A c.458C>A (p.Thr153Lys) n.322C>A c.1634C>A (p.Thr545Lys) c.1436C>A (p.Thr479Lys) c.1409C>A (p.Thr470Lys) n.412C>A n.5743C>A c.1721C>A (p.Thr574Lys) c.1547C>A (p.Thr516Lys) c.1523C>A (p.Thr508Lys) c.656C>A (p.Thr219Lys) c.569C>A (p.Thr190Lys) c.482C>A (p.Thr161Lys) n.521C>A | |
17 | g.45991488C>G | CA399977599 | MAPT | c.371C>G (p.Thr124Arg) c.284C>G (p.Thr95Arg) n.523C>G c.458C>G (p.Thr153Arg) n.322C>G c.1634C>G (p.Thr545Arg) c.1436C>G (p.Thr479Arg) c.1409C>G (p.Thr470Arg) n.412C>G n.5743C>G c.1721C>G (p.Thr574Arg) c.1547C>G (p.Thr516Arg) c.1523C>G (p.Thr508Arg) c.656C>G (p.Thr219Arg) c.569C>G (p.Thr190Arg) c.482C>G (p.Thr161Arg) n.521C>G | |
17 | g.45991488C>T | CA399977600 | MAPT | c.371C>T (p.Thr124Ile) c.284C>T (p.Thr95Ile) n.523C>T c.458C>T (p.Thr153Ile) n.322C>T c.1634C>T (p.Thr545Ile) c.1436C>T (p.Thr479Ile) c.1409C>T (p.Thr470Ile) n.412C>T n.5743C>T c.1721C>T (p.Thr574Ile) c.1547C>T (p.Thr516Ile) c.1523C>T (p.Thr508Ile) c.656C>T (p.Thr219Ile) c.569C>T (p.Thr190Ile) c.482C>T (p.Thr161Ile) n.521C>T | |
17 | g.45991489A>C | CA500370466 | MAPT | c.372A>C (p.Thr124=) c.285A>C (p.Thr95=) n.524A>C c.459A>C (p.Thr153=) n.323A>C c.1635A>C (p.Thr545=) c.1437A>C (p.Thr479=) c.1410A>C (p.Thr470=) n.413A>C n.5744A>C c.1722A>C (p.Thr574=) c.1548A>C (p.Thr516=) c.1524A>C (p.Thr508=) c.657A>C (p.Thr219=) c.570A>C (p.Thr190=) c.483A>C (p.Thr161=) n.522A>C | |
17 | g.45991489A>G | CA500370465 | MAPT | c.372A>G (p.Thr124=) c.285A>G (p.Thr95=) n.524A>G c.459A>G (p.Thr153=) n.323A>G c.1635A>G (p.Thr545=) c.1437A>G (p.Thr479=) c.1410A>G (p.Thr470=) n.413A>G n.5744A>G c.1722A>G (p.Thr574=) c.1548A>G (p.Thr516=) c.1524A>G (p.Thr508=) c.657A>G (p.Thr219=) c.570A>G (p.Thr190=) c.483A>G (p.Thr161=) n.522A>G | |
17 | g.45991489A>T | CA500370467 | MAPT | c.372A>T (p.Thr124=) c.285A>T (p.Thr95=) n.524A>T c.459A>T (p.Thr153=) n.323A>T c.1635A>T (p.Thr545=) c.1437A>T (p.Thr479=) c.1410A>T (p.Thr470=) n.413A>T n.5744A>T c.1722A>T (p.Thr574=) c.1548A>T (p.Thr516=) c.1524A>T (p.Thr508=) c.657A>T (p.Thr219=) c.570A>T (p.Thr190=) c.483A>T (p.Thr161=) n.522A>T | |
17 | g.45991490C>A | CA399977601 | MAPT | c.373C>A (p.Pro125Thr) c.286C>A (p.Pro96Thr) n.525C>A c.460C>A (p.Pro154Thr) n.324C>A c.1636C>A (p.Pro546Thr) c.1438C>A (p.Pro480Thr) c.1411C>A (p.Pro471Thr) n.414C>A n.5745C>A c.1723C>A (p.Pro575Thr) c.1549C>A (p.Pro517Thr) c.1525C>A (p.Pro509Thr) c.658C>A (p.Pro220Thr) c.571C>A (p.Pro191Thr) c.484C>A (p.Pro162Thr) n.523C>A | |
17 | g.45991490C>G | CA399977602 | MAPT | c.373C>G (p.Pro125Ala) c.286C>G (p.Pro96Ala) n.525C>G c.460C>G (p.Pro154Ala) n.324C>G c.1636C>G (p.Pro546Ala) c.1438C>G (p.Pro480Ala) c.1411C>G (p.Pro471Ala) n.414C>G n.5745C>G c.1723C>G (p.Pro575Ala) c.1549C>G (p.Pro517Ala) c.1525C>G (p.Pro509Ala) c.658C>G (p.Pro220Ala) c.571C>G (p.Pro191Ala) c.484C>G (p.Pro162Ala) n.523C>G | |
17 | g.45991490C>T | CA399977603 | MAPT | c.373C>T (p.Pro125Ser) c.286C>T (p.Pro96Ser) n.525C>T c.460C>T (p.Pro154Ser) n.324C>T c.1636C>T (p.Pro546Ser) c.1438C>T (p.Pro480Ser) c.1411C>T (p.Pro471Ser) n.414C>T n.5745C>T c.1723C>T (p.Pro575Ser) c.1549C>T (p.Pro517Ser) c.1525C>T (p.Pro509Ser) c.658C>T (p.Pro220Ser) c.571C>T (p.Pro191Ser) c.484C>T (p.Pro162Ser) n.523C>T | gnomAD v4 |
17 | g.45991491C>A | CA399977606 | MAPT | c.374C>A (p.Pro125Gln) c.287C>A (p.Pro96Gln) n.526C>A c.461C>A (p.Pro154Gln) n.325C>A c.1637C>A (p.Pro546Gln) c.1439C>A (p.Pro480Gln) c.1412C>A (p.Pro471Gln) n.415C>A n.5746C>A c.1724C>A (p.Pro575Gln) c.1550C>A (p.Pro517Gln) c.1526C>A (p.Pro509Gln) c.659C>A (p.Pro220Gln) c.572C>A (p.Pro191Gln) c.485C>A (p.Pro162Gln) n.524C>A | gnomAD v4 |
17 | g.45991491C= | CA2262092869 | MAPT | c.374C= (p.Pro125=) c.287C= (p.Pro96=) n.526C= c.461C= (p.Pro154=) n.325C= c.1637C= (p.Pro546=) c.1439C= (p.Pro480=) c.1412C= (p.Pro471=) n.415C= n.5746C= c.1724C= (p.Pro575=) c.1550C= (p.Pro517=) c.1526C= (p.Pro509=) c.659C= (p.Pro220=) c.572C= (p.Pro191=) c.485C= (p.Pro162=) n.524C= | |
17 | g.45991491C>G | CA399977605 | MAPT | c.374C>G (p.Pro125Arg) c.287C>G (p.Pro96Arg) n.526C>G c.461C>G (p.Pro154Arg) n.325C>G c.1637C>G (p.Pro546Arg) c.1439C>G (p.Pro480Arg) c.1412C>G (p.Pro471Arg) n.415C>G n.5746C>G c.1724C>G (p.Pro575Arg) c.1550C>G (p.Pro517Arg) c.1526C>G (p.Pro509Arg) c.659C>G (p.Pro220Arg) c.572C>G (p.Pro191Arg) c.485C>G (p.Pro162Arg) n.524C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.45991491C>T | CA399977604 | MAPT | c.374C>T (p.Pro125Leu) c.287C>T (p.Pro96Leu) n.526C>T c.461C>T (p.Pro154Leu) n.325C>T c.1637C>T (p.Pro546Leu) c.1439C>T (p.Pro480Leu) c.1412C>T (p.Pro471Leu) n.415C>T n.5746C>T c.1724C>T (p.Pro575Leu) c.1550C>T (p.Pro517Leu) c.1526C>T (p.Pro509Leu) c.659C>T (p.Pro220Leu) c.572C>T (p.Pro191Leu) c.485C>T (p.Pro162Leu) n.524C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.45991492G>A | CA8617965 | MAPT | c.375G>A (p.Pro125=) c.288G>A (p.Pro96=) n.527G>A c.462G>A (p.Pro154=) n.326G>A c.1638G>A (p.Pro546=) c.1440G>A (p.Pro480=) c.1413G>A (p.Pro471=) n.416G>A n.5747G>A c.1725G>A (p.Pro575=) c.1551G>A (p.Pro517=) c.1527G>A (p.Pro509=) c.660G>A (p.Pro220=) c.573G>A (p.Pro191=) c.486G>A (p.Pro162=) n.525G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.45991492G>C | CA500370469 | MAPT | c.375G>C (p.Pro125=) c.288G>C (p.Pro96=) n.527G>C c.462G>C (p.Pro154=) n.326G>C c.1638G>C (p.Pro546=) c.1440G>C (p.Pro480=) c.1413G>C (p.Pro471=) n.416G>C n.5747G>C c.1725G>C (p.Pro575=) c.1551G>C (p.Pro517=) c.1527G>C (p.Pro509=) c.660G>C (p.Pro220=) c.573G>C (p.Pro191=) c.486G>C (p.Pro162=) n.525G>C | |
17 | g.45991492G= | CA2262092870 | MAPT | c.375G= (p.Pro125=) c.288G= (p.Pro96=) n.527G= c.462G= (p.Pro154=) n.326G= c.1638G= (p.Pro546=) c.1440G= (p.Pro480=) c.1413G= (p.Pro471=) n.416G= n.5747G= c.1725G= (p.Pro575=) c.1551G= (p.Pro517=) c.1527G= (p.Pro509=) c.660G= (p.Pro220=) c.573G= (p.Pro191=) c.486G= (p.Pro162=) n.525G= | |
17 | g.45991492G>T | CA500370468 | MAPT | c.375G>T (p.Pro125=) c.288G>T (p.Pro96=) n.527G>T c.462G>T (p.Pro154=) n.326G>T c.1638G>T (p.Pro546=) c.1440G>T (p.Pro480=) c.1413G>T (p.Pro471=) n.416G>T n.5747G>T c.1725G>T (p.Pro575=) c.1551G>T (p.Pro517=) c.1527G>T (p.Pro509=) c.660G>T (p.Pro220=) c.573G>T (p.Pro191=) c.486G>T (p.Pro162=) n.525G>T | dbSNP gnomAD v2 gnomAD v4 |
17 | g.45991493C>A | CA500370470 | MAPT | c.376C>A (p.Arg126=) c.289C>A (p.Arg97=) n.528C>A c.463C>A (p.Arg155=) n.327C>A c.1639C>A (p.Arg547=) c.1441C>A (p.Arg481=) c.1414C>A (p.Arg472=) n.417C>A n.5748C>A c.1726C>A (p.Arg576=) c.1552C>A (p.Arg518=) c.1528C>A (p.Arg510=) c.661C>A (p.Arg221=) c.574C>A (p.Arg192=) c.487C>A (p.Arg163=) n.526C>A | |
17 | g.45991493C= | CA2262092871 | MAPT | c.376C= (p.Arg126=) c.289C= (p.Arg97=) n.528C= c.463C= (p.Arg155=) n.327C= c.1639C= (p.Arg547=) c.1441C= (p.Arg481=) c.1414C= (p.Arg472=) n.417C= n.5748C= c.1726C= (p.Arg576=) c.1552C= (p.Arg518=) c.1528C= (p.Arg510=) c.661C= (p.Arg221=) c.574C= (p.Arg192=) c.487C= (p.Arg163=) n.526C= | |
17 | g.45991493C>G | CA399977607 | MAPT | c.376C>G (p.Arg126Gly) c.289C>G (p.Arg97Gly) n.528C>G c.463C>G (p.Arg155Gly) n.327C>G c.1639C>G (p.Arg547Gly) c.1441C>G (p.Arg481Gly) c.1414C>G (p.Arg472Gly) n.417C>G n.5748C>G c.1726C>G (p.Arg576Gly) c.1552C>G (p.Arg518Gly) c.1528C>G (p.Arg510Gly) c.661C>G (p.Arg221Gly) c.574C>G (p.Arg192Gly) c.487C>G (p.Arg163Gly) n.526C>G | |
17 | g.45991493C>T | CA8617966 | MAPT | c.376C>T (p.Arg126Trp) c.289C>T (p.Arg97Trp) n.528C>T c.463C>T (p.Arg155Trp) n.327C>T c.1639C>T (p.Arg547Trp) c.1441C>T (p.Arg481Trp) c.1414C>T (p.Arg472Trp) n.417C>T n.5748C>T c.1726C>T (p.Arg576Trp) c.1552C>T (p.Arg518Trp) c.1528C>T (p.Arg510Trp) c.661C>T (p.Arg221Trp) c.574C>T (p.Arg192Trp) c.487C>T (p.Arg163Trp) n.526C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.45991494G>A | CA399977608 | MAPT | c.377G>A (p.Arg126Gln) c.290G>A (p.Arg97Gln) n.529G>A c.464G>A (p.Arg155Gln) n.328G>A c.1640G>A (p.Arg547Gln) c.1442G>A (p.Arg481Gln) c.1415G>A (p.Arg472Gln) n.418G>A n.5749G>A c.1727G>A (p.Arg576Gln) c.1553G>A (p.Arg518Gln) c.1529G>A (p.Arg510Gln) c.662G>A (p.Arg221Gln) c.575G>A (p.Arg192Gln) c.488G>A (p.Arg163Gln) n.527G>A | gnomAD v4 |
17 | g.45991494G>C | CA399977609 | MAPT | c.377G>C (p.Arg126Pro) c.290G>C (p.Arg97Pro) n.529G>C c.464G>C (p.Arg155Pro) n.328G>C c.1640G>C (p.Arg547Pro) c.1442G>C (p.Arg481Pro) c.1415G>C (p.Arg472Pro) n.418G>C n.5749G>C c.1727G>C (p.Arg576Pro) c.1553G>C (p.Arg518Pro) c.1529G>C (p.Arg510Pro) c.662G>C (p.Arg221Pro) c.575G>C (p.Arg192Pro) c.488G>C (p.Arg163Pro) n.527G>C | |
17 | g.45991494G>T | CA399977610 | MAPT | c.377G>T (p.Arg126Leu) c.290G>T (p.Arg97Leu) n.529G>T c.464G>T (p.Arg155Leu) n.328G>T c.1640G>T (p.Arg547Leu) c.1442G>T (p.Arg481Leu) c.1415G>T (p.Arg472Leu) n.418G>T n.5749G>T c.1727G>T (p.Arg576Leu) c.1553G>T (p.Arg518Leu) c.1529G>T (p.Arg510Leu) c.662G>T (p.Arg221Leu) c.575G>T (p.Arg192Leu) c.488G>T (p.Arg163Leu) n.527G>T | |
17 | g.45991497del | CA2576299118 | MAPT | c.380del (p.Gly127GlufsTer?) c.293del (p.Gly98GlufsTer?) n.532del c.467del (p.Gly156GlufsTer?) n.331del c.1643del (p.Gly548GlufsTer?) c.1445del (p.Gly482GlufsTer?) c.1418del (p.Gly473GlufsTer?) n.421del n.5752del c.1730del (p.Gly577GlufsTer?) c.1556del (p.Gly519GlufsTer?) c.1532del (p.Gly511GlufsTer?) c.665del (p.Gly222GlufsTer?) c.578del (p.Gly193GlufsTer?) c.491del (p.Gly164GlufsTer?) n.530del | |
17 | g.45991495G>A | CA500370473 | MAPT | c.378G>A (p.Arg126=) c.291G>A (p.Arg97=) n.530G>A c.465G>A (p.Arg155=) n.329G>A c.1641G>A (p.Arg547=) c.1443G>A (p.Arg481=) c.1416G>A (p.Arg472=) n.419G>A n.5750G>A c.1728G>A (p.Arg576=) c.1554G>A (p.Arg518=) c.1530G>A (p.Arg510=) c.663G>A (p.Arg221=) c.576G>A (p.Arg192=) c.489G>A (p.Arg163=) n.528G>A | dbSNP gnomAD v4 |
17 | g.45991495G>C | CA500370472 | MAPT | c.378G>C (p.Arg126=) c.291G>C (p.Arg97=) n.530G>C c.465G>C (p.Arg155=) n.329G>C c.1641G>C (p.Arg547=) c.1443G>C (p.Arg481=) c.1416G>C (p.Arg472=) n.419G>C n.5750G>C c.1728G>C (p.Arg576=) c.1554G>C (p.Arg518=) c.1530G>C (p.Arg510=) c.663G>C (p.Arg221=) c.576G>C (p.Arg192=) c.489G>C (p.Arg163=) n.528G>C | |
17 | g.45991495G= | CA2262092872 | MAPT | c.378G= (p.Arg126=) c.291G= (p.Arg97=) n.530G= c.465G= (p.Arg155=) n.329G= c.1641G= (p.Arg547=) c.1443G= (p.Arg481=) c.1416G= (p.Arg472=) n.419G= n.5750G= c.1728G= (p.Arg576=) c.1554G= (p.Arg518=) c.1530G= (p.Arg510=) c.663G= (p.Arg221=) c.576G= (p.Arg192=) c.489G= (p.Arg163=) n.528G= | |
17 | g.45991495G>T | CA500370471 | MAPT | c.378G>T (p.Arg126=) c.291G>T (p.Arg97=) n.530G>T c.465G>T (p.Arg155=) n.329G>T c.1641G>T (p.Arg547=) c.1443G>T (p.Arg481=) c.1416G>T (p.Arg472=) n.419G>T n.5750G>T c.1728G>T (p.Arg576=) c.1554G>T (p.Arg518=) c.1530G>T (p.Arg510=) c.663G>T (p.Arg221=) c.576G>T (p.Arg192=) c.489G>T (p.Arg163=) n.528G>T | |
17 | g.45991496G>A | CA291106244 | MAPT | c.379G>A (p.Gly127Arg) c.292G>A (p.Gly98Arg) n.531G>A c.466G>A (p.Gly156Arg) n.330G>A c.1642G>A (p.Gly548Arg) c.1444G>A (p.Gly482Arg) c.1417G>A (p.Gly473Arg) n.420G>A n.5751G>A c.1729G>A (p.Gly577Arg) c.1555G>A (p.Gly519Arg) c.1531G>A (p.Gly511Arg) c.664G>A (p.Gly222Arg) c.577G>A (p.Gly193Arg) c.490G>A (p.Gly164Arg) n.529G>A | dbSNP |
17 | g.45991496G>C | CA399977612 | MAPT | c.379G>C (p.Gly127Arg) c.292G>C (p.Gly98Arg) n.531G>C c.466G>C (p.Gly156Arg) n.330G>C c.1642G>C (p.Gly548Arg) c.1444G>C (p.Gly482Arg) c.1417G>C (p.Gly473Arg) n.420G>C n.5751G>C c.1729G>C (p.Gly577Arg) c.1555G>C (p.Gly519Arg) c.1531G>C (p.Gly511Arg) c.664G>C (p.Gly222Arg) c.577G>C (p.Gly193Arg) c.490G>C (p.Gly164Arg) n.529G>C | |
17 | g.45991496G= | CA2262092873 | MAPT | c.379G= (p.Gly127=) c.292G= (p.Gly98=) n.531G= c.466G= (p.Gly156=) n.330G= c.1642G= (p.Gly548=) c.1444G= (p.Gly482=) c.1417G= (p.Gly473=) n.420G= n.5751G= c.1729G= (p.Gly577=) c.1555G= (p.Gly519=) c.1531G= (p.Gly511=) c.664G= (p.Gly222=) c.577G= (p.Gly193=) c.490G= (p.Gly164=) n.529G= | |
17 | g.45991496G>T | CA399977611 | MAPT | c.379G>T (p.Gly127Ter) c.292G>T (p.Gly98Ter) n.531G>T c.466G>T (p.Gly156Ter) n.330G>T c.1642G>T (p.Gly548Ter) c.1444G>T (p.Gly482Ter) c.1417G>T (p.Gly473Ter) n.420G>T n.5751G>T c.1729G>T (p.Gly577Ter) c.1555G>T (p.Gly519Ter) c.1531G>T (p.Gly511Ter) c.664G>T (p.Gly222Ter) c.577G>T (p.Gly193Ter) c.490G>T (p.Gly164Ter) n.529G>T | |
17 | g.45991497G>A | CA399977613 | MAPT | c.380G>A (p.Gly127Glu) c.293G>A (p.Gly98Glu) n.532G>A c.467G>A (p.Gly156Glu) n.331G>A c.1643G>A (p.Gly548Glu) c.1445G>A (p.Gly482Glu) c.1418G>A (p.Gly473Glu) n.421G>A n.5752G>A c.1730G>A (p.Gly577Glu) c.1556G>A (p.Gly519Glu) c.1532G>A (p.Gly511Glu) c.665G>A (p.Gly222Glu) c.578G>A (p.Gly193Glu) c.491G>A (p.Gly164Glu) n.530G>A | dbSNP gnomAD v3 gnomAD v4 |
17 | g.45991497G>C | CA399977614 | MAPT | c.380G>C (p.Gly127Ala) c.293G>C (p.Gly98Ala) n.532G>C c.467G>C (p.Gly156Ala) n.331G>C c.1643G>C (p.Gly548Ala) c.1445G>C (p.Gly482Ala) c.1418G>C (p.Gly473Ala) n.421G>C n.5752G>C c.1730G>C (p.Gly577Ala) c.1556G>C (p.Gly519Ala) c.1532G>C (p.Gly511Ala) c.665G>C (p.Gly222Ala) c.578G>C (p.Gly193Ala) c.491G>C (p.Gly164Ala) n.530G>C | |
17 | g.45991497G= | CA2262092874 | MAPT | c.380G= (p.Gly127=) c.293G= (p.Gly98=) n.532G= c.467G= (p.Gly156=) n.331G= c.1643G= (p.Gly548=) c.1445G= (p.Gly482=) c.1418G= (p.Gly473=) n.421G= n.5752G= c.1730G= (p.Gly577=) c.1556G= (p.Gly519=) c.1532G= (p.Gly511=) c.665G= (p.Gly222=) c.578G= (p.Gly193=) c.491G= (p.Gly164=) n.530G= | |
17 | g.45991497G>T | CA399977615 | MAPT | c.380G>T (p.Gly127Val) c.293G>T (p.Gly98Val) n.532G>T c.467G>T (p.Gly156Val) n.331G>T c.1643G>T (p.Gly548Val) c.1445G>T (p.Gly482Val) c.1418G>T (p.Gly473Val) n.421G>T n.5752G>T c.1730G>T (p.Gly577Val) c.1556G>T (p.Gly519Val) c.1532G>T (p.Gly511Val) c.665G>T (p.Gly222Val) c.578G>T (p.Gly193Val) c.491G>T (p.Gly164Val) n.530G>T | |
17 | g.45991498A>C | CA500370475 | MAPT | c.381A>C (p.Gly127=) c.294A>C (p.Gly98=) n.533A>C c.468A>C (p.Gly156=) n.332A>C c.1644A>C (p.Gly548=) c.1446A>C (p.Gly482=) c.1419A>C (p.Gly473=) n.422A>C n.5753A>C c.1731A>C (p.Gly577=) c.1557A>C (p.Gly519=) c.1533A>C (p.Gly511=) c.666A>C (p.Gly222=) c.579A>C (p.Gly193=) c.492A>C (p.Gly164=) n.531A>C | |
17 | g.45991498A>G | CA500370474 | MAPT | c.381A>G (p.Gly127=) c.294A>G (p.Gly98=) n.533A>G c.468A>G (p.Gly156=) n.332A>G c.1644A>G (p.Gly548=) c.1446A>G (p.Gly482=) c.1419A>G (p.Gly473=) n.422A>G n.5753A>G c.1731A>G (p.Gly577=) c.1557A>G (p.Gly519=) c.1533A>G (p.Gly511=) c.666A>G (p.Gly222=) c.579A>G (p.Gly193=) c.492A>G (p.Gly164=) n.531A>G | |
17 | g.45991498A>T | CA500370476 | MAPT | c.381A>T (p.Gly127=) c.294A>T (p.Gly98=) n.533A>T c.468A>T (p.Gly156=) n.332A>T c.1644A>T (p.Gly548=) c.1446A>T (p.Gly482=) c.1419A>T (p.Gly473=) n.422A>T n.5753A>T c.1731A>T (p.Gly577=) c.1557A>T (p.Gly519=) c.1533A>T (p.Gly511=) c.666A>T (p.Gly222=) c.579A>T (p.Gly193=) c.492A>T (p.Gly164=) n.531A>T | |
17 | g.45991499G>A | CA399977616 | MAPT | c.382G>A (p.Ala128Thr) c.295G>A (p.Ala99Thr) n.534G>A c.469G>A (p.Ala157Thr) n.333G>A c.1645G>A (p.Ala549Thr) c.1447G>A (p.Ala483Thr) c.1420G>A (p.Ala474Thr) n.423G>A n.5754G>A c.1732G>A (p.Ala578Thr) c.1558G>A (p.Ala520Thr) c.1534G>A (p.Ala512Thr) c.667G>A (p.Ala223Thr) c.580G>A (p.Ala194Thr) c.493G>A (p.Ala165Thr) n.532G>A | |
17 | g.45991499G>C | CA399977617 | MAPT | c.382G>C (p.Ala128Pro) c.295G>C (p.Ala99Pro) n.534G>C c.469G>C (p.Ala157Pro) n.333G>C c.1645G>C (p.Ala549Pro) c.1447G>C (p.Ala483Pro) c.1420G>C (p.Ala474Pro) n.423G>C n.5754G>C c.1732G>C (p.Ala578Pro) c.1558G>C (p.Ala520Pro) c.1534G>C (p.Ala512Pro) c.667G>C (p.Ala223Pro) c.580G>C (p.Ala194Pro) c.493G>C (p.Ala165Pro) n.532G>C | |
17 | g.45991499G>T | CA399977618 | MAPT | c.382G>T (p.Ala128Ser) c.295G>T (p.Ala99Ser) n.534G>T c.469G>T (p.Ala157Ser) n.333G>T c.1645G>T (p.Ala549Ser) c.1447G>T (p.Ala483Ser) c.1420G>T (p.Ala474Ser) n.423G>T n.5754G>T c.1732G>T (p.Ala578Ser) c.1558G>T (p.Ala520Ser) c.1534G>T (p.Ala512Ser) c.667G>T (p.Ala223Ser) c.580G>T (p.Ala194Ser) c.493G>T (p.Ala165Ser) n.532G>T | |
17 | g.45991500C>A | CA399977621 | MAPT | c.383C>A (p.Ala128Glu) c.296C>A (p.Ala99Glu) n.535C>A c.470C>A (p.Ala157Glu) n.334C>A c.1646C>A (p.Ala549Glu) c.1448C>A (p.Ala483Glu) c.1421C>A (p.Ala474Glu) n.424C>A n.5755C>A c.1733C>A (p.Ala578Glu) c.1559C>A (p.Ala520Glu) c.1535C>A (p.Ala512Glu) c.668C>A (p.Ala223Glu) c.581C>A (p.Ala194Glu) c.494C>A (p.Ala165Glu) n.533C>A | |
17 | g.45991500C>G | CA399977619 | MAPT | c.383C>G (p.Ala128Gly) c.296C>G (p.Ala99Gly) n.535C>G c.470C>G (p.Ala157Gly) n.334C>G c.1646C>G (p.Ala549Gly) c.1448C>G (p.Ala483Gly) c.1421C>G (p.Ala474Gly) n.424C>G n.5755C>G c.1733C>G (p.Ala578Gly) c.1559C>G (p.Ala520Gly) c.1535C>G (p.Ala512Gly) c.668C>G (p.Ala223Gly) c.581C>G (p.Ala194Gly) c.494C>G (p.Ala165Gly) n.533C>G | |
17 | g.45991500C>T | CA399977620 | MAPT | c.383C>T (p.Ala128Val) c.296C>T (p.Ala99Val) n.535C>T c.470C>T (p.Ala157Val) n.334C>T c.1646C>T (p.Ala549Val) c.1448C>T (p.Ala483Val) c.1421C>T (p.Ala474Val) n.424C>T n.5755C>T c.1733C>T (p.Ala578Val) c.1559C>T (p.Ala520Val) c.1535C>T (p.Ala512Val) c.668C>T (p.Ala223Val) c.581C>T (p.Ala194Val) c.494C>T (p.Ala165Val) n.533C>T | |
17 | g.45991501A>C | CA500370478 | MAPT | c.384A>C (p.Ala128=) c.297A>C (p.Ala99=) n.536A>C c.471A>C (p.Ala157=) n.335A>C c.1647A>C (p.Ala549=) c.1449A>C (p.Ala483=) c.1422A>C (p.Ala474=) n.425A>C n.5756A>C c.1734A>C (p.Ala578=) c.1560A>C (p.Ala520=) c.1536A>C (p.Ala512=) c.669A>C (p.Ala223=) c.582A>C (p.Ala194=) c.495A>C (p.Ala165=) n.534A>C | |
17 | g.45991501A>G | CA500370479 | MAPT | c.384A>G (p.Ala128=) c.297A>G (p.Ala99=) n.536A>G c.471A>G (p.Ala157=) n.335A>G c.1647A>G (p.Ala549=) c.1449A>G (p.Ala483=) c.1422A>G (p.Ala474=) n.425A>G n.5756A>G c.1734A>G (p.Ala578=) c.1560A>G (p.Ala520=) c.1536A>G (p.Ala512=) c.669A>G (p.Ala223=) c.582A>G (p.Ala194=) c.495A>G (p.Ala165=) n.534A>G | |
17 | g.45991501A>T | CA500370477 | MAPT | c.384A>T (p.Ala128=) c.297A>T (p.Ala99=) n.536A>T c.471A>T (p.Ala157=) n.335A>T c.1647A>T (p.Ala549=) c.1449A>T (p.Ala483=) c.1422A>T (p.Ala474=) n.425A>T n.5756A>T c.1734A>T (p.Ala578=) c.1560A>T (p.Ala520=) c.1536A>T (p.Ala512=) c.669A>T (p.Ala223=) c.582A>T (p.Ala194=) c.495A>T (p.Ala165=) n.534A>T | |
17 | g.45991502G>A | CA399977622 | MAPT | c.385G>A (p.Ala129Thr) c.298G>A (p.Ala100Thr) n.537G>A c.472G>A (p.Ala158Thr) n.336G>A c.1648G>A (p.Ala550Thr) c.1450G>A (p.Ala484Thr) c.1423G>A (p.Ala475Thr) n.426G>A n.5757G>A c.1735G>A (p.Ala579Thr) c.1561G>A (p.Ala521Thr) c.1537G>A (p.Ala513Thr) c.670G>A (p.Ala224Thr) c.583G>A (p.Ala195Thr) c.496G>A (p.Ala166Thr) n.535G>A | |
17 | g.45991502G>C | CA399977623 | MAPT | c.385G>C (p.Ala129Pro) c.298G>C (p.Ala100Pro) n.537G>C c.472G>C (p.Ala158Pro) n.336G>C c.1648G>C (p.Ala550Pro) c.1450G>C (p.Ala484Pro) c.1423G>C (p.Ala475Pro) n.426G>C n.5757G>C c.1735G>C (p.Ala579Pro) c.1561G>C (p.Ala521Pro) c.1537G>C (p.Ala513Pro) c.670G>C (p.Ala224Pro) c.583G>C (p.Ala195Pro) c.496G>C (p.Ala166Pro) n.535G>C | |
17 | g.45991502G>T | CA399977624 | MAPT | c.385G>T (p.Ala129Ser) c.298G>T (p.Ala100Ser) n.537G>T c.472G>T (p.Ala158Ser) n.336G>T c.1648G>T (p.Ala550Ser) c.1450G>T (p.Ala484Ser) c.1423G>T (p.Ala475Ser) n.426G>T n.5757G>T c.1735G>T (p.Ala579Ser) c.1561G>T (p.Ala521Ser) c.1537G>T (p.Ala513Ser) c.670G>T (p.Ala224Ser) c.583G>T (p.Ala195Ser) c.496G>T (p.Ala166Ser) n.535G>T | |
17 | g.45991503C>A | CA399977625 | MAPT | c.386C>A (p.Ala129Asp) c.299C>A (p.Ala100Asp) n.538C>A c.473C>A (p.Ala158Asp) n.337C>A c.1649C>A (p.Ala550Asp) c.1451C>A (p.Ala484Asp) c.1424C>A (p.Ala475Asp) n.427C>A n.5758C>A c.1736C>A (p.Ala579Asp) c.1562C>A (p.Ala521Asp) c.1538C>A (p.Ala513Asp) c.671C>A (p.Ala224Asp) c.584C>A (p.Ala195Asp) c.497C>A (p.Ala166Asp) n.536C>A | |
17 | g.45991503C= | CA2262092875 | MAPT | c.386C= (p.Ala129=) c.299C= (p.Ala100=) n.538C= c.473C= (p.Ala158=) n.337C= c.1649C= (p.Ala550=) c.1451C= (p.Ala484=) c.1424C= (p.Ala475=) n.427C= n.5758C= c.1736C= (p.Ala579=) c.1562C= (p.Ala521=) c.1538C= (p.Ala513=) c.671C= (p.Ala224=) c.584C= (p.Ala195=) c.497C= (p.Ala166=) n.536C= | |
17 | g.45991503C>G | CA399977626 | MAPT | c.386C>G (p.Ala129Gly) c.299C>G (p.Ala100Gly) n.538C>G c.473C>G (p.Ala158Gly) n.337C>G c.1649C>G (p.Ala550Gly) c.1451C>G (p.Ala484Gly) c.1424C>G (p.Ala475Gly) n.427C>G n.5758C>G c.1736C>G (p.Ala579Gly) c.1562C>G (p.Ala521Gly) c.1538C>G (p.Ala513Gly) c.671C>G (p.Ala224Gly) c.584C>G (p.Ala195Gly) c.497C>G (p.Ala166Gly) n.536C>G | |
17 | g.45991503C>T | CA291106246 | MAPT | c.386C>T (p.Ala129Val) c.299C>T (p.Ala100Val) n.538C>T c.473C>T (p.Ala158Val) n.337C>T c.1649C>T (p.Ala550Val) c.1451C>T (p.Ala484Val) c.1424C>T (p.Ala475Val) n.427C>T n.5758C>T c.1736C>T (p.Ala579Val) c.1562C>T (p.Ala521Val) c.1538C>T (p.Ala513Val) c.671C>T (p.Ala224Val) c.584C>T (p.Ala195Val) c.497C>T (p.Ala166Val) n.536C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.45991504C>A | CA8617967 | MAPT | c.387C>A (p.Ala129=) c.300C>A (p.Ala100=) n.539C>A c.474C>A (p.Ala158=) n.338C>A c.1650C>A (p.Ala550=) c.1452C>A (p.Ala484=) c.1425C>A (p.Ala475=) n.428C>A n.5759C>A c.1737C>A (p.Ala579=) c.1563C>A (p.Ala521=) c.1539C>A (p.Ala513=) c.672C>A (p.Ala224=) c.585C>A (p.Ala195=) c.498C>A (p.Ala166=) n.537C>A | dbSNP ExAC gnomAD v4 |
17 | g.45991504C= | CA2262092876 | MAPT | c.387C= (p.Ala129=) c.300C= (p.Ala100=) n.539C= c.474C= (p.Ala158=) n.338C= c.1650C= (p.Ala550=) c.1452C= (p.Ala484=) c.1425C= (p.Ala475=) n.428C= n.5759C= c.1737C= (p.Ala579=) c.1563C= (p.Ala521=) c.1539C= (p.Ala513=) c.672C= (p.Ala224=) c.585C= (p.Ala195=) c.498C= (p.Ala166=) n.537C= | |
17 | g.45991504C>G | CA500370481 | MAPT | c.387C>G (p.Ala129=) c.300C>G (p.Ala100=) n.539C>G c.474C>G (p.Ala158=) n.338C>G c.1650C>G (p.Ala550=) c.1452C>G (p.Ala484=) c.1425C>G (p.Ala475=) n.428C>G n.5759C>G c.1737C>G (p.Ala579=) c.1563C>G (p.Ala521=) c.1539C>G (p.Ala513=) c.672C>G (p.Ala224=) c.585C>G (p.Ala195=) c.498C>G (p.Ala166=) n.537C>G | |
17 | g.45991504C>T | CA500370480 | MAPT | c.387C>T (p.Ala129=) c.300C>T (p.Ala100=) n.539C>T c.474C>T (p.Ala158=) n.338C>T c.1650C>T (p.Ala550=) c.1452C>T (p.Ala484=) c.1425C>T (p.Ala475=) n.428C>T n.5759C>T c.1737C>T (p.Ala579=) c.1563C>T (p.Ala521=) c.1539C>T (p.Ala513=) c.672C>T (p.Ala224=) c.585C>T (p.Ala195=) c.498C>T (p.Ala166=) n.537C>T | |
17 | g.45991505C>A | CA399977627 | MAPT | c.388C>A (p.Pro130Thr) c.301C>A (p.Pro101Thr) n.540C>A c.475C>A (p.Pro159Thr) n.339C>A c.1651C>A (p.Pro551Thr) c.1453C>A (p.Pro485Thr) c.1426C>A (p.Pro476Thr) n.429C>A n.5760C>A c.1738C>A (p.Pro580Thr) c.1564C>A (p.Pro522Thr) c.1540C>A (p.Pro514Thr) c.673C>A (p.Pro225Thr) c.586C>A (p.Pro196Thr) c.499C>A (p.Pro167Thr) n.538C>A | |
17 | g.45991505C= | CA2262092877 | MAPT | c.388C= (p.Pro130=) c.301C= (p.Pro101=) n.540C= c.475C= (p.Pro159=) n.339C= c.1651C= (p.Pro551=) c.1453C= (p.Pro485=) c.1426C= (p.Pro476=) n.429C= n.5760C= c.1738C= (p.Pro580=) c.1564C= (p.Pro522=) c.1540C= (p.Pro514=) c.673C= (p.Pro225=) c.586C= (p.Pro196=) c.499C= (p.Pro167=) n.538C= | |
17 | g.45991505C>G | CA399977628 | MAPT | c.388C>G (p.Pro130Ala) c.301C>G (p.Pro101Ala) n.540C>G c.475C>G (p.Pro159Ala) n.339C>G c.1651C>G (p.Pro551Ala) c.1453C>G (p.Pro485Ala) c.1426C>G (p.Pro476Ala) n.429C>G n.5760C>G c.1738C>G (p.Pro580Ala) c.1564C>G (p.Pro522Ala) c.1540C>G (p.Pro514Ala) c.673C>G (p.Pro225Ala) c.586C>G (p.Pro196Ala) c.499C>G (p.Pro167Ala) n.538C>G | |
17 | g.45991505C>T | CA399977629 | MAPT | c.388C>T (p.Pro130Ser) c.301C>T (p.Pro101Ser) n.540C>T c.475C>T (p.Pro159Ser) n.339C>T c.1651C>T (p.Pro551Ser) c.1453C>T (p.Pro485Ser) c.1426C>T (p.Pro476Ser) n.429C>T n.5760C>T c.1738C>T (p.Pro580Ser) c.1564C>T (p.Pro522Ser) c.1540C>T (p.Pro514Ser) c.673C>T (p.Pro225Ser) c.586C>T (p.Pro196Ser) c.499C>T (p.Pro167Ser) n.538C>T | dbSNP |
17 | g.45991506C>A | CA399977630 | MAPT | c.389C>A (p.Pro130His) c.302C>A (p.Pro101His) n.541C>A c.476C>A (p.Pro159His) n.340C>A c.1652C>A (p.Pro551His) c.1454C>A (p.Pro485His) c.1427C>A (p.Pro476His) n.430C>A n.5761C>A c.1739C>A (p.Pro580His) c.1565C>A (p.Pro522His) c.1541C>A (p.Pro514His) c.674C>A (p.Pro225His) c.587C>A (p.Pro196His) c.500C>A (p.Pro167His) n.539C>A | |
17 | g.45991506C= | CA2262092878 | MAPT | c.389C= (p.Pro130=) c.302C= (p.Pro101=) n.541C= c.476C= (p.Pro159=) n.340C= c.1652C= (p.Pro551=) c.1454C= (p.Pro485=) c.1427C= (p.Pro476=) n.430C= n.5761C= c.1739C= (p.Pro580=) c.1565C= (p.Pro522=) c.1541C= (p.Pro514=) c.674C= (p.Pro225=) c.587C= (p.Pro196=) c.500C= (p.Pro167=) n.539C= | |
17 | g.45991506C>G | CA399977631 | MAPT | c.389C>G (p.Pro130Arg) c.302C>G (p.Pro101Arg) n.541C>G c.476C>G (p.Pro159Arg) n.340C>G c.1652C>G (p.Pro551Arg) c.1454C>G (p.Pro485Arg) c.1427C>G (p.Pro476Arg) n.430C>G n.5761C>G c.1739C>G (p.Pro580Arg) c.1565C>G (p.Pro522Arg) c.1541C>G (p.Pro514Arg) c.674C>G (p.Pro225Arg) c.587C>G (p.Pro196Arg) c.500C>G (p.Pro167Arg) n.539C>G | |
17 | g.45991506C>T | CA8617968 | MAPT | c.389C>T (p.Pro130Leu) c.302C>T (p.Pro101Leu) n.541C>T c.476C>T (p.Pro159Leu) n.340C>T c.1652C>T (p.Pro551Leu) c.1454C>T (p.Pro485Leu) c.1427C>T (p.Pro476Leu) n.430C>T n.5761C>T c.1739C>T (p.Pro580Leu) c.1565C>T (p.Pro522Leu) c.1541C>T (p.Pro514Leu) c.674C>T (p.Pro225Leu) c.587C>T (p.Pro196Leu) c.500C>T (p.Pro167Leu) n.539C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.45991507T>A | CA500370484 | MAPT | c.390T>A (p.Pro130=) c.303T>A (p.Pro101=) n.542T>A c.477T>A (p.Pro159=) n.341T>A c.1653T>A (p.Pro551=) c.1455T>A (p.Pro485=) c.1428T>A (p.Pro476=) n.431T>A n.5762T>A c.1740T>A (p.Pro580=) c.1566T>A (p.Pro522=) c.1542T>A (p.Pro514=) c.675T>A (p.Pro225=) c.588T>A (p.Pro196=) c.501T>A (p.Pro167=) n.540T>A | |
17 | g.45991507T>C | CA500370482 | MAPT | c.390T>C (p.Pro130=) c.303T>C (p.Pro101=) n.542T>C c.477T>C (p.Pro159=) n.341T>C c.1653T>C (p.Pro551=) c.1455T>C (p.Pro485=) c.1428T>C (p.Pro476=) n.431T>C n.5762T>C c.1740T>C (p.Pro580=) c.1566T>C (p.Pro522=) c.1542T>C (p.Pro514=) c.675T>C (p.Pro225=) c.588T>C (p.Pro196=) c.501T>C (p.Pro167=) n.540T>C | |
17 | g.45991507T>G | CA500370483 | MAPT | c.390T>G (p.Pro130=) c.303T>G (p.Pro101=) n.542T>G c.477T>G (p.Pro159=) n.341T>G c.1653T>G (p.Pro551=) c.1455T>G (p.Pro485=) c.1428T>G (p.Pro476=) n.431T>G n.5762T>G c.1740T>G (p.Pro580=) c.1566T>G (p.Pro522=) c.1542T>G (p.Pro514=) c.675T>G (p.Pro225=) c.588T>G (p.Pro196=) c.501T>G (p.Pro167=) n.540T>G | |
17 | g.45991508C>A | CA399977632 | MAPT | c.391C>A (p.Pro131Thr) c.304C>A (p.Pro102Thr) n.543C>A c.478C>A (p.Pro160Thr) n.342C>A c.1654C>A (p.Pro552Thr) c.1456C>A (p.Pro486Thr) c.1429C>A (p.Pro477Thr) n.432C>A n.5763C>A c.1741C>A (p.Pro581Thr) c.1567C>A (p.Pro523Thr) c.1543C>A (p.Pro515Thr) c.676C>A (p.Pro226Thr) c.589C>A (p.Pro197Thr) c.502C>A (p.Pro168Thr) n.541C>A | |
17 | g.45991508C= | CA2262092879 | MAPT | c.391C= (p.Pro131=) c.304C= (p.Pro102=) n.543C= c.478C= (p.Pro160=) n.342C= c.1654C= (p.Pro552=) c.1456C= (p.Pro486=) c.1429C= (p.Pro477=) n.432C= n.5763C= c.1741C= (p.Pro581=) c.1567C= (p.Pro523=) c.1543C= (p.Pro515=) c.676C= (p.Pro226=) c.589C= (p.Pro197=) c.502C= (p.Pro168=) n.541C= | |
17 | g.45991508C>G | CA399977634 | MAPT | c.391C>G (p.Pro131Ala) c.304C>G (p.Pro102Ala) n.543C>G c.478C>G (p.Pro160Ala) n.342C>G c.1654C>G (p.Pro552Ala) c.1456C>G (p.Pro486Ala) c.1429C>G (p.Pro477Ala) n.432C>G n.5763C>G c.1741C>G (p.Pro581Ala) c.1567C>G (p.Pro523Ala) c.1543C>G (p.Pro515Ala) c.676C>G (p.Pro226Ala) c.589C>G (p.Pro197Ala) c.502C>G (p.Pro168Ala) n.541C>G | |
17 | g.45991508C>T | CA399977633 | MAPT | c.391C>T (p.Pro131Ser) c.304C>T (p.Pro102Ser) n.543C>T c.478C>T (p.Pro160Ser) n.342C>T c.1654C>T (p.Pro552Ser) c.1456C>T (p.Pro486Ser) c.1429C>T (p.Pro477Ser) n.432C>T n.5763C>T c.1741C>T (p.Pro581Ser) c.1567C>T (p.Pro523Ser) c.1543C>T (p.Pro515Ser) c.676C>T (p.Pro226Ser) c.589C>T (p.Pro197Ser) c.502C>T (p.Pro168Ser) n.541C>T | dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
17 | g.45991509C>A | CA399977635 | MAPT | c.392C>A (p.Pro131Gln) c.305C>A (p.Pro102Gln) n.544C>A c.479C>A (p.Pro160Gln) n.343C>A c.1655C>A (p.Pro552Gln) c.1457C>A (p.Pro486Gln) c.1430C>A (p.Pro477Gln) n.433C>A n.5764C>A c.1742C>A (p.Pro581Gln) c.1568C>A (p.Pro523Gln) c.1544C>A (p.Pro515Gln) c.677C>A (p.Pro226Gln) c.590C>A (p.Pro197Gln) c.503C>A (p.Pro168Gln) n.542C>A | |
17 | g.45991509C>G | CA399977636 | MAPT | c.392C>G (p.Pro131Arg) c.305C>G (p.Pro102Arg) n.544C>G c.479C>G (p.Pro160Arg) n.343C>G c.1655C>G (p.Pro552Arg) c.1457C>G (p.Pro486Arg) c.1430C>G (p.Pro477Arg) n.433C>G n.5764C>G c.1742C>G (p.Pro581Arg) c.1568C>G (p.Pro523Arg) c.1544C>G (p.Pro515Arg) c.677C>G (p.Pro226Arg) c.590C>G (p.Pro197Arg) c.503C>G (p.Pro168Arg) n.542C>G | |
17 | g.45991509C>T | CA399977637 | MAPT | c.392C>T (p.Pro131Leu) c.305C>T (p.Pro102Leu) n.544C>T c.479C>T (p.Pro160Leu) n.343C>T c.1655C>T (p.Pro552Leu) c.1457C>T (p.Pro486Leu) c.1430C>T (p.Pro477Leu) n.433C>T n.5764C>T c.1742C>T (p.Pro581Leu) c.1568C>T (p.Pro523Leu) c.1544C>T (p.Pro515Leu) c.677C>T (p.Pro226Leu) c.590C>T (p.Pro197Leu) c.503C>T (p.Pro168Leu) n.542C>T | COSMIC COSMIC COSMIC |
17 | g.45991510A>C | CA500370485 | MAPT | c.393A>C (p.Pro131=) c.306A>C (p.Pro102=) n.545A>C c.480A>C (p.Pro160=) n.344A>C c.1656A>C (p.Pro552=) c.1458A>C (p.Pro486=) c.1431A>C (p.Pro477=) n.434A>C n.5765A>C c.1743A>C (p.Pro581=) c.1569A>C (p.Pro523=) c.1545A>C (p.Pro515=) c.678A>C (p.Pro226=) c.591A>C (p.Pro197=) c.504A>C (p.Pro168=) n.543A>C | |
17 | g.45991510A>G | CA500370486 | MAPT | c.393A>G (p.Pro131=) c.306A>G (p.Pro102=) n.545A>G c.480A>G (p.Pro160=) n.344A>G c.1656A>G (p.Pro552=) c.1458A>G (p.Pro486=) c.1431A>G (p.Pro477=) n.434A>G n.5765A>G c.1743A>G (p.Pro581=) c.1569A>G (p.Pro523=) c.1545A>G (p.Pro515=) c.678A>G (p.Pro226=) c.591A>G (p.Pro197=) c.504A>G (p.Pro168=) n.543A>G | gnomAD v4 |
17 | g.45991510A>T | CA500370487 | MAPT | c.393A>T (p.Pro131=) c.306A>T (p.Pro102=) n.545A>T c.480A>T (p.Pro160=) n.344A>T c.1656A>T (p.Pro552=) c.1458A>T (p.Pro486=) c.1431A>T (p.Pro477=) n.434A>T n.5765A>T c.1743A>T (p.Pro581=) c.1569A>T (p.Pro523=) c.1545A>T (p.Pro515=) c.678A>T (p.Pro226=) c.591A>T (p.Pro197=) c.504A>T (p.Pro168=) n.543A>T | |
17 | g.45991511G>A | CA399977638 | MAPT | c.394G>A (p.Gly132Ser) c.307G>A (p.Gly103Ser) n.546G>A c.481G>A (p.Gly161Ser) n.345G>A c.1657G>A (p.Gly553Ser) c.1459G>A (p.Gly487Ser) c.1432G>A (p.Gly478Ser) n.435G>A n.5766G>A c.1744G>A (p.Gly582Ser) c.1570G>A (p.Gly524Ser) c.1546G>A (p.Gly516Ser) c.679G>A (p.Gly227Ser) c.592G>A (p.Gly198Ser) c.505G>A (p.Gly169Ser) n.544G>A | dbSNP gnomAD v2 gnomAD v4 |
17 | g.45991511G>C | CA399977639 | MAPT | c.394G>C (p.Gly132Arg) c.307G>C (p.Gly103Arg) n.546G>C c.481G>C (p.Gly161Arg) n.345G>C c.1657G>C (p.Gly553Arg) c.1459G>C (p.Gly487Arg) c.1432G>C (p.Gly478Arg) n.435G>C n.5766G>C c.1744G>C (p.Gly582Arg) c.1570G>C (p.Gly524Arg) c.1546G>C (p.Gly516Arg) c.679G>C (p.Gly227Arg) c.592G>C (p.Gly198Arg) c.505G>C (p.Gly169Arg) n.544G>C | |
17 | g.45991511G= | CA2262092880 | MAPT | c.394G= (p.Gly132=) c.307G= (p.Gly103=) n.546G= c.481G= (p.Gly161=) n.345G= c.1657G= (p.Gly553=) c.1459G= (p.Gly487=) c.1432G= (p.Gly478=) n.435G= n.5766G= c.1744G= (p.Gly582=) c.1570G= (p.Gly524=) c.1546G= (p.Gly516=) c.679G= (p.Gly227=) c.592G= (p.Gly198=) c.505G= (p.Gly169=) n.544G= | |
17 | g.45991511G>T | CA399977640 | MAPT | c.394G>T (p.Gly132Cys) c.307G>T (p.Gly103Cys) n.546G>T c.481G>T (p.Gly161Cys) n.345G>T c.1657G>T (p.Gly553Cys) c.1459G>T (p.Gly487Cys) c.1432G>T (p.Gly478Cys) n.435G>T n.5766G>T c.1744G>T (p.Gly582Cys) c.1570G>T (p.Gly524Cys) c.1546G>T (p.Gly516Cys) c.679G>T (p.Gly227Cys) c.592G>T (p.Gly198Cys) c.505G>T (p.Gly169Cys) n.544G>T | |
17 | g.45991512G>A | CA399977641 | MAPT | c.395G>A (p.Gly132Asp) c.308G>A (p.Gly103Asp) n.547G>A c.482G>A (p.Gly161Asp) n.346G>A c.1658G>A (p.Gly553Asp) c.1460G>A (p.Gly487Asp) c.1433G>A (p.Gly478Asp) n.436G>A n.5767G>A c.1745G>A (p.Gly582Asp) c.1571G>A (p.Gly524Asp) c.1547G>A (p.Gly516Asp) c.680G>A (p.Gly227Asp) c.593G>A (p.Gly198Asp) c.506G>A (p.Gly169Asp) n.545G>A | |
17 | g.45991512G>C | CA399977642 | MAPT | c.395G>C (p.Gly132Ala) c.308G>C (p.Gly103Ala) n.547G>C c.482G>C (p.Gly161Ala) n.346G>C c.1658G>C (p.Gly553Ala) c.1460G>C (p.Gly487Ala) c.1433G>C (p.Gly478Ala) n.436G>C n.5767G>C c.1745G>C (p.Gly582Ala) c.1571G>C (p.Gly524Ala) c.1547G>C (p.Gly516Ala) c.680G>C (p.Gly227Ala) c.593G>C (p.Gly198Ala) c.506G>C (p.Gly169Ala) n.545G>C | |
17 | g.45991512G>T | CA399977643 | MAPT | c.395G>T (p.Gly132Val) c.308G>T (p.Gly103Val) n.547G>T c.482G>T (p.Gly161Val) n.346G>T c.1658G>T (p.Gly553Val) c.1460G>T (p.Gly487Val) c.1433G>T (p.Gly478Val) n.436G>T n.5767G>T c.1745G>T (p.Gly582Val) c.1571G>T (p.Gly524Val) c.1547G>T (p.Gly516Val) c.680G>T (p.Gly227Val) c.593G>T (p.Gly198Val) c.506G>T (p.Gly169Val) n.545G>T | |
17 | g.45991513C>A | CA500370489 | MAPT | c.396C>A (p.Gly132=) c.309C>A (p.Gly103=) n.548C>A c.483C>A (p.Gly161=) n.347C>A c.1659C>A (p.Gly553=) c.1461C>A (p.Gly487=) c.1434C>A (p.Gly478=) n.437C>A n.5768C>A c.1746C>A (p.Gly582=) c.1572C>A (p.Gly524=) c.1548C>A (p.Gly516=) c.681C>A (p.Gly227=) c.594C>A (p.Gly198=) c.507C>A (p.Gly169=) n.546C>A | gnomAD v4 |
17 | g.45991513C>G | CA500370488 | MAPT | c.396C>G (p.Gly132=) c.309C>G (p.Gly103=) n.548C>G c.483C>G (p.Gly161=) n.347C>G c.1659C>G (p.Gly553=) c.1461C>G (p.Gly487=) c.1434C>G (p.Gly478=) n.437C>G n.5768C>G c.1746C>G (p.Gly582=) c.1572C>G (p.Gly524=) c.1548C>G (p.Gly516=) c.681C>G (p.Gly227=) c.594C>G (p.Gly198=) c.507C>G (p.Gly169=) n.546C>G | |
17 | g.45991513C>T | CA500370490 | MAPT | c.396C>T (p.Gly132=) c.309C>T (p.Gly103=) n.548C>T c.483C>T (p.Gly161=) n.347C>T c.1659C>T (p.Gly553=) c.1461C>T (p.Gly487=) c.1434C>T (p.Gly478=) n.437C>T n.5768C>T c.1746C>T (p.Gly582=) c.1572C>T (p.Gly524=) c.1548C>T (p.Gly516=) c.681C>T (p.Gly227=) c.594C>T (p.Gly198=) c.507C>T (p.Gly169=) n.546C>T | |
17 | g.45991514C>A | CA399977644 | MAPT | c.397C>A (p.Gln133Lys) c.310C>A (p.Gln104Lys) n.549C>A c.484C>A (p.Gln162Lys) n.348C>A c.1660C>A (p.Gln554Lys) c.1462C>A (p.Gln488Lys) c.1435C>A (p.Gln479Lys) n.438C>A n.5769C>A c.1747C>A (p.Gln583Lys) c.1573C>A (p.Gln525Lys) c.1549C>A (p.Gln517Lys) c.682C>A (p.Gln228Lys) c.595C>A (p.Gln199Lys) c.508C>A (p.Gln170Lys) n.547C>A | |
17 | g.45991514C>G | CA399977645 | MAPT | c.397C>G (p.Gln133Glu) c.310C>G (p.Gln104Glu) n.549C>G c.484C>G (p.Gln162Glu) n.348C>G c.1660C>G (p.Gln554Glu) c.1462C>G (p.Gln488Glu) c.1435C>G (p.Gln479Glu) n.438C>G n.5769C>G c.1747C>G (p.Gln583Glu) c.1573C>G (p.Gln525Glu) c.1549C>G (p.Gln517Glu) c.682C>G (p.Gln228Glu) c.595C>G (p.Gln199Glu) c.508C>G (p.Gln170Glu) n.547C>G | gnomAD v4 |
17 | g.45991514C>T | CA399977646 | MAPT | c.397C>T (p.Gln133Ter) c.310C>T (p.Gln104Ter) n.549C>T c.484C>T (p.Gln162Ter) n.348C>T c.1660C>T (p.Gln554Ter) c.1462C>T (p.Gln488Ter) c.1435C>T (p.Gln479Ter) n.438C>T n.5769C>T c.1747C>T (p.Gln583Ter) c.1573C>T (p.Gln525Ter) c.1549C>T (p.Gln517Ter) c.682C>T (p.Gln228Ter) c.595C>T (p.Gln199Ter) c.508C>T (p.Gln170Ter) n.547C>T | |
17 | g.45991515A>C | CA399977649 | MAPT | c.398A>C (p.Gln133Pro) c.311A>C (p.Gln104Pro) n.550A>C c.485A>C (p.Gln162Pro) n.349A>C c.1661A>C (p.Gln554Pro) c.1463A>C (p.Gln488Pro) c.1436A>C (p.Gln479Pro) n.439A>C n.5770A>C c.1748A>C (p.Gln583Pro) c.1574A>C (p.Gln525Pro) c.1550A>C (p.Gln517Pro) c.683A>C (p.Gln228Pro) c.596A>C (p.Gln199Pro) c.509A>C (p.Gln170Pro) n.548A>C | |
17 | g.45991515A>G | CA399977648 | MAPT | c.398A>G (p.Gln133Arg) c.311A>G (p.Gln104Arg) n.550A>G c.485A>G (p.Gln162Arg) n.349A>G c.1661A>G (p.Gln554Arg) c.1463A>G (p.Gln488Arg) c.1436A>G (p.Gln479Arg) n.439A>G n.5770A>G c.1748A>G (p.Gln583Arg) c.1574A>G (p.Gln525Arg) c.1550A>G (p.Gln517Arg) c.683A>G (p.Gln228Arg) c.596A>G (p.Gln199Arg) c.509A>G (p.Gln170Arg) n.548A>G | |
17 | g.45991515A>T | CA399977647 | MAPT | c.398A>T (p.Gln133Leu) c.311A>T (p.Gln104Leu) n.550A>T c.485A>T (p.Gln162Leu) n.349A>T c.1661A>T (p.Gln554Leu) c.1463A>T (p.Gln488Leu) c.1436A>T (p.Gln479Leu) n.439A>T n.5770A>T c.1748A>T (p.Gln583Leu) c.1574A>T (p.Gln525Leu) c.1550A>T (p.Gln517Leu) c.683A>T (p.Gln228Leu) c.596A>T (p.Gln199Leu) c.509A>T (p.Gln170Leu) n.548A>T | |
17 | g.45991516G>A | CA500370491 | MAPT | c.399G>A (p.Gln133=) c.312G>A (p.Gln104=) n.551G>A c.486G>A (p.Gln162=) n.350G>A c.1662G>A (p.Gln554=) c.1464G>A (p.Gln488=) c.1437G>A (p.Gln479=) n.440G>A n.5771G>A c.1749G>A (p.Gln583=) c.1575G>A (p.Gln525=) c.1551G>A (p.Gln517=) c.684G>A (p.Gln228=) c.597G>A (p.Gln199=) c.510G>A (p.Gln170=) n.549G>A | |
17 | g.45991516G>C | CA399977650 | MAPT | c.399G>C (p.Gln133His) c.312G>C (p.Gln104His) n.551G>C c.486G>C (p.Gln162His) n.350G>C c.1662G>C (p.Gln554His) c.1464G>C (p.Gln488His) c.1437G>C (p.Gln479His) n.440G>C n.5771G>C c.1749G>C (p.Gln583His) c.1575G>C (p.Gln525His) c.1551G>C (p.Gln517His) c.684G>C (p.Gln228His) c.597G>C (p.Gln199His) c.510G>C (p.Gln170His) n.549G>C | |
17 | g.45991516G>T | CA399977651 | MAPT | c.399G>T (p.Gln133His) c.312G>T (p.Gln104His) n.551G>T c.486G>T (p.Gln162His) n.350G>T c.1662G>T (p.Gln554His) c.1464G>T (p.Gln488His) c.1437G>T (p.Gln479His) n.440G>T n.5771G>T c.1749G>T (p.Gln583His) c.1575G>T (p.Gln525His) c.1551G>T (p.Gln517His) c.684G>T (p.Gln228His) c.597G>T (p.Gln199His) c.510G>T (p.Gln170His) n.549G>T | |
17 | g.45991517A= | CA2262092881 | MAPT | c.400A= (p.Lys134=) c.313A= (p.Lys105=) n.552A= c.487A= (p.Lys163=) n.351A= c.1663A= (p.Lys555=) c.1465A= (p.Lys489=) c.1438A= (p.Lys480=) n.441A= n.5772A= c.1750A= (p.Lys584=) c.1576A= (p.Lys526=) c.1552A= (p.Lys518=) c.685A= (p.Lys229=) c.598A= (p.Lys200=) c.511A= (p.Lys171=) n.550A= | |
17 | g.45991517A>C | CA399977652 | MAPT | c.400A>C (p.Lys134Gln) c.313A>C (p.Lys105Gln) n.552A>C c.487A>C (p.Lys163Gln) n.351A>C c.1663A>C (p.Lys555Gln) c.1465A>C (p.Lys489Gln) c.1438A>C (p.Lys480Gln) n.441A>C n.5772A>C c.1750A>C (p.Lys584Gln) c.1576A>C (p.Lys526Gln) c.1552A>C (p.Lys518Gln) c.685A>C (p.Lys229Gln) c.598A>C (p.Lys200Gln) c.511A>C (p.Lys171Gln) n.550A>C | |
17 | g.45991517A>G | CA399977653 | MAPT | c.400A>G (p.Lys134Glu) c.313A>G (p.Lys105Glu) n.552A>G c.487A>G (p.Lys163Glu) n.351A>G c.1663A>G (p.Lys555Glu) c.1465A>G (p.Lys489Glu) c.1438A>G (p.Lys480Glu) n.441A>G n.5772A>G c.1750A>G (p.Lys584Glu) c.1576A>G (p.Lys526Glu) c.1552A>G (p.Lys518Glu) c.685A>G (p.Lys229Glu) c.598A>G (p.Lys200Glu) c.511A>G (p.Lys171Glu) n.550A>G | dbSNP |
17 | g.45991517A>T | CA399977654 | MAPT | c.400A>T (p.Lys134Ter) c.313A>T (p.Lys105Ter) n.552A>T c.487A>T (p.Lys163Ter) n.351A>T c.1663A>T (p.Lys555Ter) c.1465A>T (p.Lys489Ter) c.1438A>T (p.Lys480Ter) n.441A>T n.5772A>T c.1750A>T (p.Lys584Ter) c.1576A>T (p.Lys526Ter) c.1552A>T (p.Lys518Ter) c.685A>T (p.Lys229Ter) c.598A>T (p.Lys200Ter) c.511A>T (p.Lys171Ter) n.550A>T | |
17 | g.45991518A>C | CA399977655 | MAPT | c.401A>C (p.Lys134Thr) c.314A>C (p.Lys105Thr) n.553A>C c.488A>C (p.Lys163Thr) n.352A>C c.1664A>C (p.Lys555Thr) c.1466A>C (p.Lys489Thr) c.1439A>C (p.Lys480Thr) n.442A>C n.5773A>C c.1751A>C (p.Lys584Thr) c.1577A>C (p.Lys526Thr) c.1553A>C (p.Lys518Thr) c.686A>C (p.Lys229Thr) c.599A>C (p.Lys200Thr) c.512A>C (p.Lys171Thr) n.551A>C | |
17 | g.45991518A>G | CA399977656 | MAPT | c.401A>G (p.Lys134Arg) c.314A>G (p.Lys105Arg) n.553A>G c.488A>G (p.Lys163Arg) n.352A>G c.1664A>G (p.Lys555Arg) c.1466A>G (p.Lys489Arg) c.1439A>G (p.Lys480Arg) n.442A>G n.5773A>G c.1751A>G (p.Lys584Arg) c.1577A>G (p.Lys526Arg) c.1553A>G (p.Lys518Arg) c.686A>G (p.Lys229Arg) c.599A>G (p.Lys200Arg) c.512A>G (p.Lys171Arg) n.551A>G | |
17 | g.45991518A>T | CA399977657 | MAPT | c.401A>T (p.Lys134Met) c.314A>T (p.Lys105Met) n.553A>T c.488A>T (p.Lys163Met) n.352A>T c.1664A>T (p.Lys555Met) c.1466A>T (p.Lys489Met) c.1439A>T (p.Lys480Met) n.442A>T n.5773A>T c.1751A>T (p.Lys584Met) c.1577A>T (p.Lys526Met) c.1553A>T (p.Lys518Met) c.686A>T (p.Lys229Met) c.599A>T (p.Lys200Met) c.512A>T (p.Lys171Met) n.551A>T | |
17 | g.45991519G>A | CA500370492 | MAPT | c.402G>A (p.Lys134=) c.315G>A (p.Lys105=) n.554G>A c.489G>A (p.Lys163=) n.353G>A c.1665G>A (p.Lys555=) c.1467G>A (p.Lys489=) c.1440G>A (p.Lys480=) n.443G>A n.5774G>A c.1752G>A (p.Lys584=) c.1578G>A (p.Lys526=) c.1554G>A (p.Lys518=) c.687G>A (p.Lys229=) c.600G>A (p.Lys200=) c.513G>A (p.Lys171=) n.552G>A | |
17 | g.45991519G>C | CA399977658 | MAPT | c.402G>C (p.Lys134Asn) c.315G>C (p.Lys105Asn) n.554G>C c.489G>C (p.Lys163Asn) n.353G>C c.1665G>C (p.Lys555Asn) c.1467G>C (p.Lys489Asn) c.1440G>C (p.Lys480Asn) n.443G>C n.5774G>C c.1752G>C (p.Lys584Asn) c.1578G>C (p.Lys526Asn) c.1554G>C (p.Lys518Asn) c.687G>C (p.Lys229Asn) c.600G>C (p.Lys200Asn) c.513G>C (p.Lys171Asn) n.552G>C | |
17 | g.45991519G>T | CA399977659 | MAPT | c.402G>T (p.Lys134Asn) c.315G>T (p.Lys105Asn) n.554G>T c.489G>T (p.Lys163Asn) n.353G>T c.1665G>T (p.Lys555Asn) c.1467G>T (p.Lys489Asn) c.1440G>T (p.Lys480Asn) n.443G>T n.5774G>T c.1752G>T (p.Lys584Asn) c.1578G>T (p.Lys526Asn) c.1554G>T (p.Lys518Asn) c.687G>T (p.Lys229Asn) c.600G>T (p.Lys200Asn) c.513G>T (p.Lys171Asn) n.552G>T | |
17 | g.45991520G>A | CA399977660 | MAPT | c.403G>A (p.Gly135Ser) c.316G>A (p.Gly106Ser) n.555G>A c.490G>A (p.Gly164Ser) n.354G>A c.1666G>A (p.Gly556Ser) c.1468G>A (p.Gly490Ser) c.1441G>A (p.Gly481Ser) n.444G>A n.5775G>A c.1753G>A (p.Gly585Ser) c.1579G>A (p.Gly527Ser) c.1555G>A (p.Gly519Ser) c.688G>A (p.Gly230Ser) c.601G>A (p.Gly201Ser) c.514G>A (p.Gly172Ser) n.553G>A | dbSNP gnomAD v4 |
17 | g.45991520G>C | CA399977661 | MAPT | c.403G>C (p.Gly135Arg) c.316G>C (p.Gly106Arg) n.555G>C c.490G>C (p.Gly164Arg) n.354G>C c.1666G>C (p.Gly556Arg) c.1468G>C (p.Gly490Arg) c.1441G>C (p.Gly481Arg) n.444G>C n.5775G>C c.1753G>C (p.Gly585Arg) c.1579G>C (p.Gly527Arg) c.1555G>C (p.Gly519Arg) c.688G>C (p.Gly230Arg) c.601G>C (p.Gly201Arg) c.514G>C (p.Gly172Arg) n.553G>C | |
17 | g.45991520G= | CA2262092882 | MAPT | c.403G= (p.Gly135=) c.316G= (p.Gly106=) n.555G= c.490G= (p.Gly164=) n.354G= c.1666G= (p.Gly556=) c.1468G= (p.Gly490=) c.1441G= (p.Gly481=) n.444G= n.5775G= c.1753G= (p.Gly585=) c.1579G= (p.Gly527=) c.1555G= (p.Gly519=) c.688G= (p.Gly230=) c.601G= (p.Gly201=) c.514G= (p.Gly172=) n.553G= | |
17 | g.45991520G>T | CA399977662 | MAPT | c.403G>T (p.Gly135Cys) c.316G>T (p.Gly106Cys) n.555G>T c.490G>T (p.Gly164Cys) n.354G>T c.1666G>T (p.Gly556Cys) c.1468G>T (p.Gly490Cys) c.1441G>T (p.Gly481Cys) n.444G>T n.5775G>T c.1753G>T (p.Gly585Cys) c.1579G>T (p.Gly527Cys) c.1555G>T (p.Gly519Cys) c.688G>T (p.Gly230Cys) c.601G>T (p.Gly201Cys) c.514G>T (p.Gly172Cys) n.553G>T | |
17 | g.45991521G>A | CA399977664 | MAPT | c.404G>A (p.Gly135Asp) c.317G>A (p.Gly106Asp) n.556G>A c.491G>A (p.Gly164Asp) n.355G>A c.1667G>A (p.Gly556Asp) c.1469G>A (p.Gly490Asp) c.1442G>A (p.Gly481Asp) n.445G>A n.5776G>A c.1754G>A (p.Gly585Asp) c.1580G>A (p.Gly527Asp) c.1556G>A (p.Gly519Asp) c.689G>A (p.Gly230Asp) c.602G>A (p.Gly201Asp) c.515G>A (p.Gly172Asp) n.554G>A | |
17 | g.45991521G>C | CA399977665 | MAPT | c.404G>C (p.Gly135Ala) c.317G>C (p.Gly106Ala) n.556G>C c.491G>C (p.Gly164Ala) n.355G>C c.1667G>C (p.Gly556Ala) c.1469G>C (p.Gly490Ala) c.1442G>C (p.Gly481Ala) n.445G>C n.5776G>C c.1754G>C (p.Gly585Ala) c.1580G>C (p.Gly527Ala) c.1556G>C (p.Gly519Ala) c.689G>C (p.Gly230Ala) c.602G>C (p.Gly201Ala) c.515G>C (p.Gly172Ala) n.554G>C | |
17 | g.45991521G>T | CA399977663 | MAPT | c.404G>T (p.Gly135Val) c.317G>T (p.Gly106Val) n.556G>T c.491G>T (p.Gly164Val) n.355G>T c.1667G>T (p.Gly556Val) c.1469G>T (p.Gly490Val) c.1442G>T (p.Gly481Val) n.445G>T n.5776G>T c.1754G>T (p.Gly585Val) c.1580G>T (p.Gly527Val) c.1556G>T (p.Gly519Val) c.689G>T (p.Gly230Val) c.602G>T (p.Gly201Val) c.515G>T (p.Gly172Val) n.554G>T | gnomAD v4 |
17 | g.45991522C>A | CA500370493 | MAPT | c.405C>A (p.Gly135=) c.318C>A (p.Gly106=) n.557C>A c.492C>A (p.Gly164=) n.356C>A c.1668C>A (p.Gly556=) c.1470C>A (p.Gly490=) c.1443C>A (p.Gly481=) n.446C>A n.5777C>A c.1755C>A (p.Gly585=) c.1581C>A (p.Gly527=) c.1557C>A (p.Gly519=) c.690C>A (p.Gly230=) c.603C>A (p.Gly201=) c.516C>A (p.Gly172=) n.555C>A | |
17 | g.45991522C>G | CA500370494 | MAPT | c.405C>G (p.Gly135=) c.318C>G (p.Gly106=) n.557C>G c.492C>G (p.Gly164=) n.356C>G c.1668C>G (p.Gly556=) c.1470C>G (p.Gly490=) c.1443C>G (p.Gly481=) n.446C>G n.5777C>G c.1755C>G (p.Gly585=) c.1581C>G (p.Gly527=) c.1557C>G (p.Gly519=) c.690C>G (p.Gly230=) c.603C>G (p.Gly201=) c.516C>G (p.Gly172=) n.555C>G | |
17 | g.45991522C>T | CA500370495 | MAPT | c.405C>T (p.Gly135=) c.318C>T (p.Gly106=) n.557C>T c.492C>T (p.Gly164=) n.356C>T c.1668C>T (p.Gly556=) c.1470C>T (p.Gly490=) c.1443C>T (p.Gly481=) n.446C>T n.5777C>T c.1755C>T (p.Gly585=) c.1581C>T (p.Gly527=) c.1557C>T (p.Gly519=) c.690C>T (p.Gly230=) c.603C>T (p.Gly201=) c.516C>T (p.Gly172=) n.555C>T | gnomAD v4 |
17 | g.45991523C>A | CA399977666 | MAPT | c.406C>A (p.Gln136Lys) c.319C>A (p.Gln107Lys) n.558C>A c.493C>A (p.Gln165Lys) n.357C>A c.1669C>A (p.Gln557Lys) c.1471C>A (p.Gln491Lys) c.1444C>A (p.Gln482Lys) n.447C>A n.5778C>A c.1756C>A (p.Gln586Lys) c.1582C>A (p.Gln528Lys) c.1558C>A (p.Gln520Lys) c.691C>A (p.Gln231Lys) c.604C>A (p.Gln202Lys) c.517C>A (p.Gln173Lys) n.556C>A | |
17 | g.45991523C>G | CA399977668 | MAPT | c.406C>G (p.Gln136Glu) c.319C>G (p.Gln107Glu) n.558C>G c.493C>G (p.Gln165Glu) n.357C>G c.1669C>G (p.Gln557Glu) c.1471C>G (p.Gln491Glu) c.1444C>G (p.Gln482Glu) n.447C>G n.5778C>G c.1756C>G (p.Gln586Glu) c.1582C>G (p.Gln528Glu) c.1558C>G (p.Gln520Glu) c.691C>G (p.Gln231Glu) c.604C>G (p.Gln202Glu) c.517C>G (p.Gln173Glu) n.556C>G | |
17 | g.45991523C>T | CA399977667 | MAPT | c.406C>T (p.Gln136Ter) c.319C>T (p.Gln107Ter) n.558C>T c.493C>T (p.Gln165Ter) n.357C>T c.1669C>T (p.Gln557Ter) c.1471C>T (p.Gln491Ter) c.1444C>T (p.Gln482Ter) n.447C>T n.5778C>T c.1756C>T (p.Gln586Ter) c.1582C>T (p.Gln528Ter) c.1558C>T (p.Gln520Ter) c.691C>T (p.Gln231Ter) c.604C>T (p.Gln202Ter) c.517C>T (p.Gln173Ter) n.556C>T | |
17 | g.45991524A= | CA2262092883 | MAPT | c.407A= (p.Gln136=) c.320A= (p.Gln107=) n.559A= c.494A= (p.Gln165=) n.358A= c.1670A= (p.Gln557=) c.1472A= (p.Gln491=) c.1445A= (p.Gln482=) n.448A= n.5779A= c.1757A= (p.Gln586=) c.1583A= (p.Gln528=) c.1559A= (p.Gln520=) c.692A= (p.Gln231=) c.605A= (p.Gln202=) c.518A= (p.Gln173=) n.557A= | |
17 | g.45991524A>C | CA8617970 | MAPT | c.407A>C (p.Gln136Pro) c.320A>C (p.Gln107Pro) n.559A>C c.494A>C (p.Gln165Pro) n.358A>C c.1670A>C (p.Gln557Pro) c.1472A>C (p.Gln491Pro) c.1445A>C (p.Gln482Pro) n.448A>C n.5779A>C c.1757A>C (p.Gln586Pro) c.1583A>C (p.Gln528Pro) c.1559A>C (p.Gln520Pro) c.692A>C (p.Gln231Pro) c.605A>C (p.Gln202Pro) c.518A>C (p.Gln173Pro) n.557A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.45991524A>G | CA8617969 | MAPT | c.407A>G (p.Gln136Arg) c.320A>G (p.Gln107Arg) n.559A>G c.494A>G (p.Gln165Arg) n.358A>G c.1670A>G (p.Gln557Arg) c.1472A>G (p.Gln491Arg) c.1445A>G (p.Gln482Arg) n.448A>G n.5779A>G c.1757A>G (p.Gln586Arg) c.1583A>G (p.Gln528Arg) c.1559A>G (p.Gln520Arg) c.692A>G (p.Gln231Arg) c.605A>G (p.Gln202Arg) c.518A>G (p.Gln173Arg) n.557A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.45991524A>T | CA399977669 | MAPT | c.407A>T (p.Gln136Leu) c.320A>T (p.Gln107Leu) n.559A>T c.494A>T (p.Gln165Leu) n.358A>T c.1670A>T (p.Gln557Leu) c.1472A>T (p.Gln491Leu) c.1445A>T (p.Gln482Leu) n.448A>T n.5779A>T c.1757A>T (p.Gln586Leu) c.1583A>T (p.Gln528Leu) c.1559A>T (p.Gln520Leu) c.692A>T (p.Gln231Leu) c.605A>T (p.Gln202Leu) c.518A>T (p.Gln173Leu) n.557A>T | |
17 | g.45991525G>A | CA8617971 | MAPT | c.408G>A (p.Gln136=) c.321G>A (p.Gln107=) n.560G>A c.495G>A (p.Gln165=) n.359G>A c.1671G>A (p.Gln557=) c.1473G>A (p.Gln491=) c.1446G>A (p.Gln482=) n.449G>A n.5780G>A c.1758G>A (p.Gln586=) c.1584G>A (p.Gln528=) c.1560G>A (p.Gln520=) c.693G>A (p.Gln231=) c.606G>A (p.Gln202=) c.519G>A (p.Gln173=) n.558G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.45991525G>C | CA399977670 | MAPT | c.408G>C (p.Gln136His) c.321G>C (p.Gln107His) n.560G>C c.495G>C (p.Gln165His) n.359G>C c.1671G>C (p.Gln557His) c.1473G>C (p.Gln491His) c.1446G>C (p.Gln482His) n.449G>C n.5780G>C c.1758G>C (p.Gln586His) c.1584G>C (p.Gln528His) c.1560G>C (p.Gln520His) c.693G>C (p.Gln231His) c.606G>C (p.Gln202His) c.519G>C (p.Gln173His) n.558G>C | |
17 | g.45991525G= | CA2262092884 | MAPT | c.408G= (p.Gln136=) c.321G= (p.Gln107=) n.560G= c.495G= (p.Gln165=) n.359G= c.1671G= (p.Gln557=) c.1473G= (p.Gln491=) c.1446G= (p.Gln482=) n.449G= n.5780G= c.1758G= (p.Gln586=) c.1584G= (p.Gln528=) c.1560G= (p.Gln520=) c.693G= (p.Gln231=) c.606G= (p.Gln202=) c.519G= (p.Gln173=) n.558G= | |
17 | g.45991525G>T | CA399977671 | MAPT | c.408G>T (p.Gln136His) c.321G>T (p.Gln107His) n.560G>T c.495G>T (p.Gln165His) n.359G>T c.1671G>T (p.Gln557His) c.1473G>T (p.Gln491His) c.1446G>T (p.Gln482His) n.449G>T n.5780G>T c.1758G>T (p.Gln586His) c.1584G>T (p.Gln528His) c.1560G>T (p.Gln520His) c.693G>T (p.Gln231His) c.606G>T (p.Gln202His) c.519G>T (p.Gln173His) n.558G>T | |
17 | g.45991526G>A | CA399977672 | MAPT | c.409G>A (p.Ala137Thr) c.322G>A (p.Ala108Thr) n.561G>A c.496G>A (p.Ala166Thr) n.360G>A c.1672G>A (p.Ala558Thr) c.1474G>A (p.Ala492Thr) c.1447G>A (p.Ala483Thr) n.450G>A n.5781G>A c.1759G>A (p.Ala587Thr) c.1585G>A (p.Ala529Thr) c.1561G>A (p.Ala521Thr) c.694G>A (p.Ala232Thr) c.607G>A (p.Ala203Thr) c.520G>A (p.Ala174Thr) n.559G>A | |
17 | g.45991526G>C | CA399977673 | MAPT | c.409G>C (p.Ala137Pro) c.322G>C (p.Ala108Pro) n.561G>C c.496G>C (p.Ala166Pro) n.360G>C c.1672G>C (p.Ala558Pro) c.1474G>C (p.Ala492Pro) c.1447G>C (p.Ala483Pro) n.450G>C n.5781G>C c.1759G>C (p.Ala587Pro) c.1585G>C (p.Ala529Pro) c.1561G>C (p.Ala521Pro) c.694G>C (p.Ala232Pro) c.607G>C (p.Ala203Pro) c.520G>C (p.Ala174Pro) n.559G>C | |
17 | g.45991526G>T | CA399977674 | MAPT | c.409G>T (p.Ala137Ser) c.322G>T (p.Ala108Ser) n.561G>T c.496G>T (p.Ala166Ser) n.360G>T c.1672G>T (p.Ala558Ser) c.1474G>T (p.Ala492Ser) c.1447G>T (p.Ala483Ser) n.450G>T n.5781G>T c.1759G>T (p.Ala587Ser) c.1585G>T (p.Ala529Ser) c.1561G>T (p.Ala521Ser) c.694G>T (p.Ala232Ser) c.607G>T (p.Ala203Ser) c.520G>T (p.Ala174Ser) n.559G>T | |
17 | g.45991527C>A | CA399977675 | MAPT | c.410C>A (p.Ala137Asp) c.323C>A (p.Ala108Asp) n.562C>A c.497C>A (p.Ala166Asp) n.361C>A c.1673C>A (p.Ala558Asp) c.1475C>A (p.Ala492Asp) c.1448C>A (p.Ala483Asp) n.451C>A n.5782C>A c.1760C>A (p.Ala587Asp) c.1586C>A (p.Ala529Asp) c.1562C>A (p.Ala521Asp) c.695C>A (p.Ala232Asp) c.608C>A (p.Ala203Asp) c.521C>A (p.Ala174Asp) n.560C>A | |
17 | g.45991527C= | CA2262092885 | MAPT | c.410C= (p.Ala137=) c.323C= (p.Ala108=) n.562C= c.497C= (p.Ala166=) n.361C= c.1673C= (p.Ala558=) c.1475C= (p.Ala492=) c.1448C= (p.Ala483=) n.451C= n.5782C= c.1760C= (p.Ala587=) c.1586C= (p.Ala529=) c.1562C= (p.Ala521=) c.695C= (p.Ala232=) c.608C= (p.Ala203=) c.521C= (p.Ala174=) n.560C= | |
17 | g.45991527C>G | CA399977676 | MAPT | c.410C>G (p.Ala137Gly) c.323C>G (p.Ala108Gly) n.562C>G c.497C>G (p.Ala166Gly) n.361C>G c.1673C>G (p.Ala558Gly) c.1475C>G (p.Ala492Gly) c.1448C>G (p.Ala483Gly) n.451C>G n.5782C>G c.1760C>G (p.Ala587Gly) c.1586C>G (p.Ala529Gly) c.1562C>G (p.Ala521Gly) c.695C>G (p.Ala232Gly) c.608C>G (p.Ala203Gly) c.521C>G (p.Ala174Gly) n.560C>G | |
17 | g.45991527C>T | CA8617972 | MAPT | c.410C>T (p.Ala137Val) c.323C>T (p.Ala108Val) n.562C>T c.497C>T (p.Ala166Val) n.361C>T c.1673C>T (p.Ala558Val) c.1475C>T (p.Ala492Val) c.1448C>T (p.Ala483Val) n.451C>T n.5782C>T c.1760C>T (p.Ala587Val) c.1586C>T (p.Ala529Val) c.1562C>T (p.Ala521Val) c.695C>T (p.Ala232Val) c.608C>T (p.Ala203Val) c.521C>T (p.Ala174Val) n.560C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.45991528C>A | CA500370496 | MAPT | c.411C>A (p.Ala137=) c.324C>A (p.Ala108=) n.563C>A c.498C>A (p.Ala166=) n.362C>A c.1674C>A (p.Ala558=) c.1476C>A (p.Ala492=) c.1449C>A (p.Ala483=) n.452C>A n.5783C>A c.1761C>A (p.Ala587=) c.1587C>A (p.Ala529=) c.1563C>A (p.Ala521=) c.696C>A (p.Ala232=) c.609C>A (p.Ala203=) c.522C>A (p.Ala174=) n.561C>A | |
17 | g.45991528C>G | CA500370498 | MAPT | c.411C>G (p.Ala137=) c.324C>G (p.Ala108=) n.563C>G c.498C>G (p.Ala166=) n.362C>G c.1674C>G (p.Ala558=) c.1476C>G (p.Ala492=) c.1449C>G (p.Ala483=) n.452C>G n.5783C>G c.1761C>G (p.Ala587=) c.1587C>G (p.Ala529=) c.1563C>G (p.Ala521=) c.696C>G (p.Ala232=) c.609C>G (p.Ala203=) c.522C>G (p.Ala174=) n.561C>G | |
17 | g.45991528C>T | CA500370497 | MAPT | c.411C>T (p.Ala137=) c.324C>T (p.Ala108=) n.563C>T c.498C>T (p.Ala166=) n.362C>T c.1674C>T (p.Ala558=) c.1476C>T (p.Ala492=) c.1449C>T (p.Ala483=) n.452C>T n.5783C>T c.1761C>T (p.Ala587=) c.1587C>T (p.Ala529=) c.1563C>T (p.Ala521=) c.696C>T (p.Ala232=) c.609C>T (p.Ala203=) c.522C>T (p.Ala174=) n.561C>T | |
17 | g.45991529A>C | CA399977679 | MAPT | c.412A>C (p.Asn138His) c.325A>C (p.Asn109His) n.564A>C c.499A>C (p.Asn167His) n.363A>C c.1675A>C (p.Asn559His) c.1477A>C (p.Asn493His) c.1450A>C (p.Asn484His) n.453A>C n.5784A>C c.1762A>C (p.Asn588His) c.1588A>C (p.Asn530His) c.1564A>C (p.Asn522His) c.697A>C (p.Asn233His) c.610A>C (p.Asn204His) c.523A>C (p.Asn175His) n.562A>C | |
17 | g.45991529A>G | CA399977678 | MAPT | c.412A>G (p.Asn138Asp) c.325A>G (p.Asn109Asp) n.564A>G c.499A>G (p.Asn167Asp) n.363A>G c.1675A>G (p.Asn559Asp) c.1477A>G (p.Asn493Asp) c.1450A>G (p.Asn484Asp) n.453A>G n.5784A>G c.1762A>G (p.Asn588Asp) c.1588A>G (p.Asn530Asp) c.1564A>G (p.Asn522Asp) c.697A>G (p.Asn233Asp) c.610A>G (p.Asn204Asp) c.523A>G (p.Asn175Asp) n.562A>G | |
17 | g.45991529A>T | CA399977677 | MAPT | c.412A>T (p.Asn138Tyr) c.325A>T (p.Asn109Tyr) n.564A>T c.499A>T (p.Asn167Tyr) n.363A>T c.1675A>T (p.Asn559Tyr) c.1477A>T (p.Asn493Tyr) c.1450A>T (p.Asn484Tyr) n.453A>T n.5784A>T c.1762A>T (p.Asn588Tyr) c.1588A>T (p.Asn530Tyr) c.1564A>T (p.Asn522Tyr) c.697A>T (p.Asn233Tyr) c.610A>T (p.Asn204Tyr) c.523A>T (p.Asn175Tyr) n.562A>T | |
17 | g.45991530A= | CA2262092886 | MAPT | c.413A= (p.Asn138=) c.326A= (p.Asn109=) n.565A= c.500A= (p.Asn167=) n.364A= c.1676A= (p.Asn559=) c.1478A= (p.Asn493=) c.1451A= (p.Asn484=) n.454A= n.5785A= c.1763A= (p.Asn588=) c.1589A= (p.Asn530=) c.1565A= (p.Asn522=) c.698A= (p.Asn233=) c.611A= (p.Asn204=) c.524A= (p.Asn175=) n.563A= | |
17 | g.45991530A>C | CA399977680 | MAPT | c.413A>C (p.Asn138Thr) c.326A>C (p.Asn109Thr) n.565A>C c.500A>C (p.Asn167Thr) n.364A>C c.1676A>C (p.Asn559Thr) c.1478A>C (p.Asn493Thr) c.1451A>C (p.Asn484Thr) n.454A>C n.5785A>C c.1763A>C (p.Asn588Thr) c.1589A>C (p.Asn530Thr) c.1565A>C (p.Asn522Thr) c.698A>C (p.Asn233Thr) c.611A>C (p.Asn204Thr) c.524A>C (p.Asn175Thr) n.563A>C | |
17 | g.45991530A>G | CA8617973 | MAPT | c.413A>G (p.Asn138Ser) c.326A>G (p.Asn109Ser) n.565A>G c.500A>G (p.Asn167Ser) n.364A>G c.1676A>G (p.Asn559Ser) c.1478A>G (p.Asn493Ser) c.1451A>G (p.Asn484Ser) n.454A>G n.5785A>G c.1763A>G (p.Asn588Ser) c.1589A>G (p.Asn530Ser) c.1565A>G (p.Asn522Ser) c.698A>G (p.Asn233Ser) c.611A>G (p.Asn204Ser) c.524A>G (p.Asn175Ser) n.563A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.45991530A>T | CA399977681 | MAPT | c.413A>T (p.Asn138Ile) c.326A>T (p.Asn109Ile) n.565A>T c.500A>T (p.Asn167Ile) n.364A>T c.1676A>T (p.Asn559Ile) c.1478A>T (p.Asn493Ile) c.1451A>T (p.Asn484Ile) n.454A>T n.5785A>T c.1763A>T (p.Asn588Ile) c.1589A>T (p.Asn530Ile) c.1565A>T (p.Asn522Ile) c.698A>T (p.Asn233Ile) c.611A>T (p.Asn204Ile) c.524A>T (p.Asn175Ile) n.563A>T | |
17 | g.45991531C>A | CA399977682 | MAPT | c.414C>A (p.Asn138Lys) c.327C>A (p.Asn109Lys) n.566C>A c.501C>A (p.Asn167Lys) n.365C>A c.1677C>A (p.Asn559Lys) c.1479C>A (p.Asn493Lys) c.1452C>A (p.Asn484Lys) n.455C>A n.5786C>A c.1764C>A (p.Asn588Lys) c.1590C>A (p.Asn530Lys) c.1566C>A (p.Asn522Lys) c.699C>A (p.Asn233Lys) c.612C>A (p.Asn204Lys) c.525C>A (p.Asn175Lys) n.564C>A | |
17 | g.45991531C= | CA2262092887 | MAPT | c.414C= (p.Asn138=) c.327C= (p.Asn109=) n.566C= c.501C= (p.Asn167=) n.365C= c.1677C= (p.Asn559=) c.1479C= (p.Asn493=) c.1452C= (p.Asn484=) n.455C= n.5786C= c.1764C= (p.Asn588=) c.1590C= (p.Asn530=) c.1566C= (p.Asn522=) c.699C= (p.Asn233=) c.612C= (p.Asn204=) c.525C= (p.Asn175=) n.564C= | |
17 | g.45991531C>G | CA399977683 | MAPT | c.414C>G (p.Asn138Lys) c.327C>G (p.Asn109Lys) n.566C>G c.501C>G (p.Asn167Lys) n.365C>G c.1677C>G (p.Asn559Lys) c.1479C>G (p.Asn493Lys) c.1452C>G (p.Asn484Lys) n.455C>G n.5786C>G c.1764C>G (p.Asn588Lys) c.1590C>G (p.Asn530Lys) c.1566C>G (p.Asn522Lys) c.699C>G (p.Asn233Lys) c.612C>G (p.Asn204Lys) c.525C>G (p.Asn175Lys) n.564C>G | gnomAD v4 |
17 | g.45991531C>T | CA500370499 | MAPT | c.414C>T (p.Asn138=) c.327C>T (p.Asn109=) n.566C>T c.501C>T (p.Asn167=) n.365C>T c.1677C>T (p.Asn559=) c.1479C>T (p.Asn493=) c.1452C>T (p.Asn484=) n.455C>T n.5786C>T c.1764C>T (p.Asn588=) c.1590C>T (p.Asn530=) c.1566C>T (p.Asn522=) c.699C>T (p.Asn233=) c.612C>T (p.Asn204=) c.525C>T (p.Asn175=) n.564C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
17 | g.45991532G>A | CA8617974 | MAPT | c.415G>A (p.Ala139Thr) c.328G>A (p.Ala110Thr) n.567G>A c.502G>A (p.Ala168Thr) n.366G>A c.1678G>A (p.Ala560Thr) c.1480G>A (p.Ala494Thr) c.1453G>A (p.Ala485Thr) n.456G>A n.5787G>A c.1765G>A (p.Ala589Thr) c.1591G>A (p.Ala531Thr) c.1567G>A (p.Ala523Thr) c.700G>A (p.Ala234Thr) c.613G>A (p.Ala205Thr) c.526G>A (p.Ala176Thr) n.565G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
17 | g.45991532G>C | CA399977684 | MAPT | c.415G>C (p.Ala139Pro) c.328G>C (p.Ala110Pro) n.567G>C c.502G>C (p.Ala168Pro) n.366G>C c.1678G>C (p.Ala560Pro) c.1480G>C (p.Ala494Pro) c.1453G>C (p.Ala485Pro) n.456G>C n.5787G>C c.1765G>C (p.Ala589Pro) c.1591G>C (p.Ala531Pro) c.1567G>C (p.Ala523Pro) c.700G>C (p.Ala234Pro) c.613G>C (p.Ala205Pro) c.526G>C (p.Ala176Pro) n.565G>C | |
17 | g.45991532G= | CA2262092888 | MAPT | c.415G= (p.Ala139=) c.328G= (p.Ala110=) n.567G= c.502G= (p.Ala168=) n.366G= c.1678G= (p.Ala560=) c.1480G= (p.Ala494=) c.1453G= (p.Ala485=) n.456G= n.5787G= c.1765G= (p.Ala589=) c.1591G= (p.Ala531=) c.1567G= (p.Ala523=) c.700G= (p.Ala234=) c.613G= (p.Ala205=) c.526G= (p.Ala176=) n.565G= | |
17 | g.45991532G>T | CA399977685 | MAPT | c.415G>T (p.Ala139Ser) c.328G>T (p.Ala110Ser) n.567G>T c.502G>T (p.Ala168Ser) n.366G>T c.1678G>T (p.Ala560Ser) c.1480G>T (p.Ala494Ser) c.1453G>T (p.Ala485Ser) n.456G>T n.5787G>T c.1765G>T (p.Ala589Ser) c.1591G>T (p.Ala531Ser) c.1567G>T (p.Ala523Ser) c.700G>T (p.Ala234Ser) c.613G>T (p.Ala205Ser) c.526G>T (p.Ala176Ser) n.565G>T | |
17 | g.45991533C>A | CA8617975 | MAPT | c.416C>A (p.Ala139Asp) c.329C>A (p.Ala110Asp) n.568C>A c.503C>A (p.Ala168Asp) n.367C>A c.1679C>A (p.Ala560Asp) c.1481C>A (p.Ala494Asp) c.1454C>A (p.Ala485Asp) n.457C>A n.5788C>A c.1766C>A (p.Ala589Asp) c.1592C>A (p.Ala531Asp) c.1568C>A (p.Ala523Asp) c.701C>A (p.Ala234Asp) c.614C>A (p.Ala205Asp) c.527C>A (p.Ala176Asp) n.566C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.45991533C= | CA2262092889 | MAPT | c.416C= (p.Ala139=) c.329C= (p.Ala110=) n.568C= c.503C= (p.Ala168=) n.367C= c.1679C= (p.Ala560=) c.1481C= (p.Ala494=) c.1454C= (p.Ala485=) n.457C= n.5788C= c.1766C= (p.Ala589=) c.1592C= (p.Ala531=) c.1568C= (p.Ala523=) c.701C= (p.Ala234=) c.614C= (p.Ala205=) c.527C= (p.Ala176=) n.566C= | |
17 | g.45991533C>G | CA399977686 | MAPT | c.416C>G (p.Ala139Gly) c.329C>G (p.Ala110Gly) n.568C>G c.503C>G (p.Ala168Gly) n.367C>G c.1679C>G (p.Ala560Gly) c.1481C>G (p.Ala494Gly) c.1454C>G (p.Ala485Gly) n.457C>G n.5788C>G c.1766C>G (p.Ala589Gly) c.1592C>G (p.Ala531Gly) c.1568C>G (p.Ala523Gly) c.701C>G (p.Ala234Gly) c.614C>G (p.Ala205Gly) c.527C>G (p.Ala176Gly) n.566C>G | |
17 | g.45991533C>T | CA399977687 | MAPT | c.416C>T (p.Ala139Val) c.329C>T (p.Ala110Val) n.568C>T c.503C>T (p.Ala168Val) n.367C>T c.1679C>T (p.Ala560Val) c.1481C>T (p.Ala494Val) c.1454C>T (p.Ala485Val) n.457C>T n.5788C>T c.1766C>T (p.Ala589Val) c.1592C>T (p.Ala531Val) c.1568C>T (p.Ala523Val) c.701C>T (p.Ala234Val) c.614C>T (p.Ala205Val) c.527C>T (p.Ala176Val) n.566C>T | |
17 | g.45991534C>A | CA500370502 | MAPT | c.417C>A (p.Ala139=) c.330C>A (p.Ala110=) n.569C>A c.504C>A (p.Ala168=) n.368C>A c.1680C>A (p.Ala560=) c.1482C>A (p.Ala494=) c.1455C>A (p.Ala485=) n.458C>A n.5789C>A c.1767C>A (p.Ala589=) c.1593C>A (p.Ala531=) c.1569C>A (p.Ala523=) c.702C>A (p.Ala234=) c.615C>A (p.Ala205=) c.528C>A (p.Ala176=) n.567C>A | |
17 | g.45991534C>G | CA500370501 | MAPT | c.417C>G (p.Ala139=) c.330C>G (p.Ala110=) n.569C>G c.504C>G (p.Ala168=) n.368C>G c.1680C>G (p.Ala560=) c.1482C>G (p.Ala494=) c.1455C>G (p.Ala485=) n.458C>G n.5789C>G c.1767C>G (p.Ala589=) c.1593C>G (p.Ala531=) c.1569C>G (p.Ala523=) c.702C>G (p.Ala234=) c.615C>G (p.Ala205=) c.528C>G (p.Ala176=) n.567C>G | |
17 | g.45991534C>T | CA500370500 | MAPT | c.417C>T (p.Ala139=) c.330C>T (p.Ala110=) n.569C>T c.504C>T (p.Ala168=) n.368C>T c.1680C>T (p.Ala560=) c.1482C>T (p.Ala494=) c.1455C>T (p.Ala485=) n.458C>T n.5789C>T c.1767C>T (p.Ala589=) c.1593C>T (p.Ala531=) c.1569C>T (p.Ala523=) c.702C>T (p.Ala234=) c.615C>T (p.Ala205=) c.528C>T (p.Ala176=) n.567C>T | |
17 | g.45991535A>C | CA399977689 | MAPT | c.418A>C (p.Thr140Pro) c.331A>C (p.Thr111Pro) n.570A>C c.505A>C (p.Thr169Pro) n.369A>C c.1681A>C (p.Thr561Pro) c.1483A>C (p.Thr495Pro) c.1456A>C (p.Thr486Pro) n.459A>C n.5790A>C c.1768A>C (p.Thr590Pro) c.1594A>C (p.Thr532Pro) c.1570A>C (p.Thr524Pro) c.703A>C (p.Thr235Pro) c.616A>C (p.Thr206Pro) c.529A>C (p.Thr177Pro) n.568A>C | |
17 | g.45991535A>G | CA399977690 | MAPT | c.418A>G (p.Thr140Ala) c.331A>G (p.Thr111Ala) n.570A>G c.505A>G (p.Thr169Ala) n.369A>G c.1681A>G (p.Thr561Ala) c.1483A>G (p.Thr495Ala) c.1456A>G (p.Thr486Ala) n.459A>G n.5790A>G c.1768A>G (p.Thr590Ala) c.1594A>G (p.Thr532Ala) c.1570A>G (p.Thr524Ala) c.703A>G (p.Thr235Ala) c.616A>G (p.Thr206Ala) c.529A>G (p.Thr177Ala) n.568A>G | |
17 | g.45991535A>T | CA399977688 | MAPT | c.418A>T (p.Thr140Ser) c.331A>T (p.Thr111Ser) n.570A>T c.505A>T (p.Thr169Ser) n.369A>T c.1681A>T (p.Thr561Ser) c.1483A>T (p.Thr495Ser) c.1456A>T (p.Thr486Ser) n.459A>T n.5790A>T c.1768A>T (p.Thr590Ser) c.1594A>T (p.Thr532Ser) c.1570A>T (p.Thr524Ser) c.703A>T (p.Thr235Ser) c.616A>T (p.Thr206Ser) c.529A>T (p.Thr177Ser) n.568A>T | |
17 | g.45991536C>A | CA399977691 | MAPT | c.419C>A (p.Thr140Asn) c.332C>A (p.Thr111Asn) n.571C>A c.506C>A (p.Thr169Asn) n.370C>A c.1682C>A (p.Thr561Asn) c.1484C>A (p.Thr495Asn) c.1457C>A (p.Thr486Asn) n.460C>A n.5791C>A c.1769C>A (p.Thr590Asn) c.1595C>A (p.Thr532Asn) c.1571C>A (p.Thr524Asn) c.704C>A (p.Thr235Asn) c.617C>A (p.Thr206Asn) c.530C>A (p.Thr177Asn) n.569C>A | |
17 | g.45991536C>G | CA399977692 | MAPT | c.419C>G (p.Thr140Ser) c.332C>G (p.Thr111Ser) n.571C>G c.506C>G (p.Thr169Ser) n.370C>G c.1682C>G (p.Thr561Ser) c.1484C>G (p.Thr495Ser) c.1457C>G (p.Thr486Ser) n.460C>G n.5791C>G c.1769C>G (p.Thr590Ser) c.1595C>G (p.Thr532Ser) c.1571C>G (p.Thr524Ser) c.704C>G (p.Thr235Ser) c.617C>G (p.Thr206Ser) c.530C>G (p.Thr177Ser) n.569C>G | |
17 | g.45991536C>T | CA399977693 | MAPT | c.419C>T (p.Thr140Ile) c.332C>T (p.Thr111Ile) n.571C>T c.506C>T (p.Thr169Ile) n.370C>T c.1682C>T (p.Thr561Ile) c.1484C>T (p.Thr495Ile) c.1457C>T (p.Thr486Ile) n.460C>T n.5791C>T c.1769C>T (p.Thr590Ile) c.1595C>T (p.Thr532Ile) c.1571C>T (p.Thr524Ile) c.704C>T (p.Thr235Ile) c.617C>T (p.Thr206Ile) c.530C>T (p.Thr177Ile) n.569C>T | |
17 | g.45991537C>A | CA500370505 | MAPT | c.420C>A (p.Thr140=) c.333C>A (p.Thr111=) n.572C>A c.507C>A (p.Thr169=) n.371C>A c.1683C>A (p.Thr561=) c.1485C>A (p.Thr495=) c.1458C>A (p.Thr486=) n.461C>A n.5792C>A c.1770C>A (p.Thr590=) c.1596C>A (p.Thr532=) c.1572C>A (p.Thr524=) c.705C>A (p.Thr235=) c.618C>A (p.Thr206=) c.531C>A (p.Thr177=) n.570C>A | |
17 | g.45991537C>G | CA500370504 | MAPT | c.420C>G (p.Thr140=) c.333C>G (p.Thr111=) n.572C>G c.507C>G (p.Thr169=) n.371C>G c.1683C>G (p.Thr561=) c.1485C>G (p.Thr495=) c.1458C>G (p.Thr486=) n.461C>G n.5792C>G c.1770C>G (p.Thr590=) c.1596C>G (p.Thr532=) c.1572C>G (p.Thr524=) c.705C>G (p.Thr235=) c.618C>G (p.Thr206=) c.531C>G (p.Thr177=) n.570C>G | |
17 | g.45991537C>T | CA500370503 | MAPT | c.420C>T (p.Thr140=) c.333C>T (p.Thr111=) n.572C>T c.507C>T (p.Thr169=) n.371C>T c.1683C>T (p.Thr561=) c.1485C>T (p.Thr495=) c.1458C>T (p.Thr486=) n.461C>T n.5792C>T c.1770C>T (p.Thr590=) c.1596C>T (p.Thr532=) c.1572C>T (p.Thr524=) c.705C>T (p.Thr235=) c.618C>T (p.Thr206=) c.531C>T (p.Thr177=) n.570C>T | |
17 | g.45991538A>C | CA500370506 | MAPT | c.421A>C (p.Arg141=) c.334A>C (p.Arg112=) n.573A>C c.508A>C (p.Arg170=) n.372A>C c.1684A>C (p.Arg562=) c.1486A>C (p.Arg496=) c.1459A>C (p.Arg487=) n.462A>C n.5793A>C c.1771A>C (p.Arg591=) c.1597A>C (p.Arg533=) c.1573A>C (p.Arg525=) c.706A>C (p.Arg236=) c.619A>C (p.Arg207=) c.532A>C (p.Arg178=) n.571A>C | |
17 | g.45991538A>G | CA399977694 | MAPT | c.421A>G (p.Arg141Gly) c.334A>G (p.Arg112Gly) n.573A>G c.508A>G (p.Arg170Gly) n.372A>G c.1684A>G (p.Arg562Gly) c.1486A>G (p.Arg496Gly) c.1459A>G (p.Arg487Gly) n.462A>G n.5793A>G c.1771A>G (p.Arg591Gly) c.1597A>G (p.Arg533Gly) c.1573A>G (p.Arg525Gly) c.706A>G (p.Arg236Gly) c.619A>G (p.Arg207Gly) c.532A>G (p.Arg178Gly) n.571A>G | COSMIC COSMIC |
17 | g.45991538A>T | CA399977695 | MAPT | c.421A>T (p.Arg141Trp) c.334A>T (p.Arg112Trp) n.573A>T c.508A>T (p.Arg170Trp) n.372A>T c.1684A>T (p.Arg562Trp) c.1486A>T (p.Arg496Trp) c.1459A>T (p.Arg487Trp) n.462A>T n.5793A>T c.1771A>T (p.Arg591Trp) c.1597A>T (p.Arg533Trp) c.1573A>T (p.Arg525Trp) c.706A>T (p.Arg236Trp) c.619A>T (p.Arg207Trp) c.532A>T (p.Arg178Trp) n.571A>T | |
17 | g.45991539G>A | CA8617976 | MAPT | c.422G>A (p.Arg141Lys) c.335G>A (p.Arg112Lys) n.574G>A c.509G>A (p.Arg170Lys) n.373G>A c.1685G>A (p.Arg562Lys) c.1487G>A (p.Arg496Lys) c.1460G>A (p.Arg487Lys) n.463G>A n.5794G>A c.1772G>A (p.Arg591Lys) c.1598G>A (p.Arg533Lys) c.1574G>A (p.Arg525Lys) c.707G>A (p.Arg236Lys) c.620G>A (p.Arg207Lys) c.533G>A (p.Arg178Lys) n.572G>A | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
17 | g.45991539G>C | CA399977696 | MAPT | c.422G>C (p.Arg141Thr) c.335G>C (p.Arg112Thr) n.574G>C c.509G>C (p.Arg170Thr) n.373G>C c.1685G>C (p.Arg562Thr) c.1487G>C (p.Arg496Thr) c.1460G>C (p.Arg487Thr) n.463G>C n.5794G>C c.1772G>C (p.Arg591Thr) c.1598G>C (p.Arg533Thr) c.1574G>C (p.Arg525Thr) c.707G>C (p.Arg236Thr) c.620G>C (p.Arg207Thr) c.533G>C (p.Arg178Thr) n.572G>C | |
17 | g.45991539G= | CA2262092890 | MAPT | c.422G= (p.Arg141=) c.335G= (p.Arg112=) n.574G= c.509G= (p.Arg170=) n.373G= c.1685G= (p.Arg562=) c.1487G= (p.Arg496=) c.1460G= (p.Arg487=) n.463G= n.5794G= c.1772G= (p.Arg591=) c.1598G= (p.Arg533=) c.1574G= (p.Arg525=) c.707G= (p.Arg236=) c.620G= (p.Arg207=) c.533G= (p.Arg178=) n.572G= | |
17 | g.45991539G>T | CA399977697 | MAPT | c.422G>T (p.Arg141Met) c.335G>T (p.Arg112Met) n.574G>T c.509G>T (p.Arg170Met) n.373G>T c.1685G>T (p.Arg562Met) c.1487G>T (p.Arg496Met) c.1460G>T (p.Arg487Met) n.463G>T n.5794G>T c.1772G>T (p.Arg591Met) c.1598G>T (p.Arg533Met) c.1574G>T (p.Arg525Met) c.707G>T (p.Arg236Met) c.620G>T (p.Arg207Met) c.533G>T (p.Arg178Met) n.572G>T | |
17 | g.45991540G>A | CA8617977 | MAPT | c.423G>A (p.Arg141=) c.336G>A (p.Arg112=) n.575G>A c.510G>A (p.Arg170=) n.374G>A c.1686G>A (p.Arg562=) c.1488G>A (p.Arg496=) c.1461G>A (p.Arg487=) n.464G>A n.5795G>A c.1773G>A (p.Arg591=) c.1599G>A (p.Arg533=) c.1575G>A (p.Arg525=) c.708G>A (p.Arg236=) c.621G>A (p.Arg207=) c.534G>A (p.Arg178=) n.573G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.45991540G>C | CA399977698 | MAPT | c.423G>C (p.Arg141Ser) c.336G>C (p.Arg112Ser) n.575G>C c.510G>C (p.Arg170Ser) n.374G>C c.1686G>C (p.Arg562Ser) c.1488G>C (p.Arg496Ser) c.1461G>C (p.Arg487Ser) n.464G>C n.5795G>C c.1773G>C (p.Arg591Ser) c.1599G>C (p.Arg533Ser) c.1575G>C (p.Arg525Ser) c.708G>C (p.Arg236Ser) c.621G>C (p.Arg207Ser) c.534G>C (p.Arg178Ser) n.573G>C | |
17 | g.45991540G= | CA2262092891 | MAPT | c.423G= (p.Arg141=) c.336G= (p.Arg112=) n.575G= c.510G= (p.Arg170=) n.374G= c.1686G= (p.Arg562=) c.1488G= (p.Arg496=) c.1461G= (p.Arg487=) n.464G= n.5795G= c.1773G= (p.Arg591=) c.1599G= (p.Arg533=) c.1575G= (p.Arg525=) c.708G= (p.Arg236=) c.621G= (p.Arg207=) c.534G= (p.Arg178=) n.573G= | |
17 | g.45991540G>T | CA399977699 | MAPT | c.423G>T (p.Arg141Ser) c.336G>T (p.Arg112Ser) n.575G>T c.510G>T (p.Arg170Ser) n.374G>T c.1686G>T (p.Arg562Ser) c.1488G>T (p.Arg496Ser) c.1461G>T (p.Arg487Ser) n.464G>T n.5795G>T c.1773G>T (p.Arg591Ser) c.1599G>T (p.Arg533Ser) c.1575G>T (p.Arg525Ser) c.708G>T (p.Arg236Ser) c.621G>T (p.Arg207Ser) c.534G>T (p.Arg178Ser) n.573G>T | |
17 | g.45991541A>C | CA399977701 | MAPT | c.424A>C (p.Ile142Leu) c.337A>C (p.Ile113Leu) n.576A>C c.511A>C (p.Ile171Leu) n.375A>C c.1687A>C (p.Ile563Leu) c.1489A>C (p.Ile497Leu) c.1462A>C (p.Ile488Leu) n.465A>C n.5796A>C c.1774A>C (p.Ile592Leu) c.1600A>C (p.Ile534Leu) c.1576A>C (p.Ile526Leu) c.709A>C (p.Ile237Leu) c.622A>C (p.Ile208Leu) c.535A>C (p.Ile179Leu) n.574A>C | |
17 | g.45991541A>G | CA399977702 | MAPT | c.424A>G (p.Ile142Val) c.337A>G (p.Ile113Val) n.576A>G c.511A>G (p.Ile171Val) n.375A>G c.1687A>G (p.Ile563Val) c.1489A>G (p.Ile497Val) c.1462A>G (p.Ile488Val) n.465A>G n.5796A>G c.1774A>G (p.Ile592Val) c.1600A>G (p.Ile534Val) c.1576A>G (p.Ile526Val) c.709A>G (p.Ile237Val) c.622A>G (p.Ile208Val) c.535A>G (p.Ile179Val) n.574A>G | |
17 | g.45991541A>T | CA399977700 | MAPT | c.424A>T (p.Ile142Phe) c.337A>T (p.Ile113Phe) n.576A>T c.511A>T (p.Ile171Phe) n.375A>T c.1687A>T (p.Ile563Phe) c.1489A>T (p.Ile497Phe) c.1462A>T (p.Ile488Phe) n.465A>T n.5796A>T c.1774A>T (p.Ile592Phe) c.1600A>T (p.Ile534Phe) c.1576A>T (p.Ile526Phe) c.709A>T (p.Ile237Phe) c.622A>T (p.Ile208Phe) c.535A>T (p.Ile179Phe) n.574A>T | |
17 | g.45991542T>A | CA399977703 | MAPT | c.425T>A (p.Ile142Asn) c.338T>A (p.Ile113Asn) n.577T>A c.512T>A (p.Ile171Asn) n.376T>A c.1688T>A (p.Ile563Asn) c.1490T>A (p.Ile497Asn) c.1463T>A (p.Ile488Asn) n.466T>A n.5797T>A c.1775T>A (p.Ile592Asn) c.1601T>A (p.Ile534Asn) c.1577T>A (p.Ile526Asn) c.710T>A (p.Ile237Asn) c.623T>A (p.Ile208Asn) c.536T>A (p.Ile179Asn) n.575T>A | |
17 | g.45991542T>C | CA399977704 | MAPT | c.425T>C (p.Ile142Thr) c.338T>C (p.Ile113Thr) n.577T>C c.512T>C (p.Ile171Thr) n.376T>C c.1688T>C (p.Ile563Thr) c.1490T>C (p.Ile497Thr) c.1463T>C (p.Ile488Thr) n.466T>C n.5797T>C c.1775T>C (p.Ile592Thr) c.1601T>C (p.Ile534Thr) c.1577T>C (p.Ile526Thr) c.710T>C (p.Ile237Thr) c.623T>C (p.Ile208Thr) c.536T>C (p.Ile179Thr) n.575T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.45991542T>G | CA399977705 | MAPT | c.425T>G (p.Ile142Ser) c.338T>G (p.Ile113Ser) n.577T>G c.512T>G (p.Ile171Ser) n.376T>G c.1688T>G (p.Ile563Ser) c.1490T>G (p.Ile497Ser) c.1463T>G (p.Ile488Ser) n.466T>G n.5797T>G c.1775T>G (p.Ile592Ser) c.1601T>G (p.Ile534Ser) c.1577T>G (p.Ile526Ser) c.710T>G (p.Ile237Ser) c.623T>G (p.Ile208Ser) c.536T>G (p.Ile179Ser) n.575T>G | |
17 | g.45991542T= | CA2262092892 | MAPT | c.425T= (p.Ile142=) c.338T= (p.Ile113=) n.577T= c.512T= (p.Ile171=) n.376T= c.1688T= (p.Ile563=) c.1490T= (p.Ile497=) c.1463T= (p.Ile488=) n.466T= n.5797T= c.1775T= (p.Ile592=) c.1601T= (p.Ile534=) c.1577T= (p.Ile526=) c.710T= (p.Ile237=) c.623T= (p.Ile208=) c.536T= (p.Ile179=) n.575T= | |
17 | g.45991543T>A | CA500370507 | MAPT | c.426T>A (p.Ile142=) c.339T>A (p.Ile113=) n.578T>A c.513T>A (p.Ile171=) n.377T>A c.1689T>A (p.Ile563=) c.1491T>A (p.Ile497=) c.1464T>A (p.Ile488=) n.467T>A n.5798T>A c.1776T>A (p.Ile592=) c.1602T>A (p.Ile534=) c.1578T>A (p.Ile526=) c.711T>A (p.Ile237=) c.624T>A (p.Ile208=) c.537T>A (p.Ile179=) n.576T>A | |
17 | g.45991543T>C | CA500370508 | MAPT | c.426T>C (p.Ile142=) c.339T>C (p.Ile113=) n.578T>C c.513T>C (p.Ile171=) n.377T>C c.1689T>C (p.Ile563=) c.1491T>C (p.Ile497=) c.1464T>C (p.Ile488=) n.467T>C n.5798T>C c.1776T>C (p.Ile592=) c.1602T>C (p.Ile534=) c.1578T>C (p.Ile526=) c.711T>C (p.Ile237=) c.624T>C (p.Ile208=) c.537T>C (p.Ile179=) n.576T>C | |
17 | g.45991543T>G | CA399977706 | MAPT | c.426T>G (p.Ile142Met) c.339T>G (p.Ile113Met) n.578T>G c.513T>G (p.Ile171Met) n.377T>G c.1689T>G (p.Ile563Met) c.1491T>G (p.Ile497Met) c.1464T>G (p.Ile488Met) n.467T>G n.5798T>G c.1776T>G (p.Ile592Met) c.1602T>G (p.Ile534Met) c.1578T>G (p.Ile526Met) c.711T>G (p.Ile237Met) c.624T>G (p.Ile208Met) c.537T>G (p.Ile179Met) n.576T>G | |
17 | g.45991544C>A | CA399977709 | MAPT | c.427C>A (p.Pro143Thr) c.340C>A (p.Pro114Thr) n.579C>A c.514C>A (p.Pro172Thr) n.378C>A c.1690C>A (p.Pro564Thr) c.1492C>A (p.Pro498Thr) c.1465C>A (p.Pro489Thr) n.468C>A n.5799C>A c.1777C>A (p.Pro593Thr) c.1603C>A (p.Pro535Thr) c.1579C>A (p.Pro527Thr) c.712C>A (p.Pro238Thr) c.625C>A (p.Pro209Thr) c.538C>A (p.Pro180Thr) n.577C>A | dbSNP gnomAD v2 gnomAD v4 |
17 | g.45991544C= | CA2262092893 | MAPT | c.427C= (p.Pro143=) c.340C= (p.Pro114=) n.579C= c.514C= (p.Pro172=) n.378C= c.1690C= (p.Pro564=) c.1492C= (p.Pro498=) c.1465C= (p.Pro489=) n.468C= n.5799C= c.1777C= (p.Pro593=) c.1603C= (p.Pro535=) c.1579C= (p.Pro527=) c.712C= (p.Pro238=) c.625C= (p.Pro209=) c.538C= (p.Pro180=) n.577C= | |
17 | g.45991544C>G | CA399977708 | MAPT | c.427C>G (p.Pro143Ala) c.340C>G (p.Pro114Ala) n.579C>G c.514C>G (p.Pro172Ala) n.378C>G c.1690C>G (p.Pro564Ala) c.1492C>G (p.Pro498Ala) c.1465C>G (p.Pro489Ala) n.468C>G n.5799C>G c.1777C>G (p.Pro593Ala) c.1603C>G (p.Pro535Ala) c.1579C>G (p.Pro527Ala) c.712C>G (p.Pro238Ala) c.625C>G (p.Pro209Ala) c.538C>G (p.Pro180Ala) n.577C>G | |
17 | g.45991544C>T | CA399977707 | MAPT | c.427C>T (p.Pro143Ser) c.340C>T (p.Pro114Ser) n.579C>T c.514C>T (p.Pro172Ser) n.378C>T c.1690C>T (p.Pro564Ser) c.1492C>T (p.Pro498Ser) c.1465C>T (p.Pro489Ser) n.468C>T n.5799C>T c.1777C>T (p.Pro593Ser) c.1603C>T (p.Pro535Ser) c.1579C>T (p.Pro527Ser) c.712C>T (p.Pro238Ser) c.625C>T (p.Pro209Ser) c.538C>T (p.Pro180Ser) n.577C>T | gnomAD v4 |
17 | g.45991545C>A | CA399977710 | MAPT | c.428C>A (p.Pro143Gln) c.341C>A (p.Pro114Gln) n.580C>A c.515C>A (p.Pro172Gln) n.379C>A c.1691C>A (p.Pro564Gln) c.1493C>A (p.Pro498Gln) c.1466C>A (p.Pro489Gln) n.469C>A n.5800C>A c.1778C>A (p.Pro593Gln) c.1604C>A (p.Pro535Gln) c.1580C>A (p.Pro527Gln) c.713C>A (p.Pro238Gln) c.626C>A (p.Pro209Gln) c.539C>A (p.Pro180Gln) n.578C>A | |
17 | g.45991545C>G | CA399977711 | MAPT | c.428C>G (p.Pro143Arg) c.341C>G (p.Pro114Arg) n.580C>G c.515C>G (p.Pro172Arg) n.379C>G c.1691C>G (p.Pro564Arg) c.1493C>G (p.Pro498Arg) c.1466C>G (p.Pro489Arg) n.469C>G n.5800C>G c.1778C>G (p.Pro593Arg) c.1604C>G (p.Pro535Arg) c.1580C>G (p.Pro527Arg) c.713C>G (p.Pro238Arg) c.626C>G (p.Pro209Arg) c.539C>G (p.Pro180Arg) n.578C>G | |
17 | g.45991545C>T | CA399977712 | MAPT | c.428C>T (p.Pro143Leu) c.341C>T (p.Pro114Leu) n.580C>T c.515C>T (p.Pro172Leu) n.379C>T c.1691C>T (p.Pro564Leu) c.1493C>T (p.Pro498Leu) c.1466C>T (p.Pro489Leu) n.469C>T n.5800C>T c.1778C>T (p.Pro593Leu) c.1604C>T (p.Pro535Leu) c.1580C>T (p.Pro527Leu) c.713C>T (p.Pro238Leu) c.626C>T (p.Pro209Leu) c.539C>T (p.Pro180Leu) n.578C>T | |
17 | g.45991546A= | CA2262092894 | MAPT | c.429A= (p.Pro143=) c.342A= (p.Pro114=) n.581A= c.516A= (p.Pro172=) n.380A= c.1692A= (p.Pro564=) c.1494A= (p.Pro498=) c.1467A= (p.Pro489=) n.470A= n.5801A= c.1779A= (p.Pro593=) c.1605A= (p.Pro535=) c.1581A= (p.Pro527=) c.714A= (p.Pro238=) c.627A= (p.Pro209=) c.540A= (p.Pro180=) n.579A= | |
17 | g.45991546A>C | CA500370510 | MAPT | c.429A>C (p.Pro143=) c.342A>C (p.Pro114=) n.581A>C c.516A>C (p.Pro172=) n.380A>C c.1692A>C (p.Pro564=) c.1494A>C (p.Pro498=) c.1467A>C (p.Pro489=) n.470A>C n.5801A>C c.1779A>C (p.Pro593=) c.1605A>C (p.Pro535=) c.1581A>C (p.Pro527=) c.714A>C (p.Pro238=) c.627A>C (p.Pro209=) c.540A>C (p.Pro180=) n.579A>C | |
17 | g.45991546A>G | CA291106254 | MAPT | c.429A>G (p.Pro143=) c.342A>G (p.Pro114=) n.581A>G c.516A>G (p.Pro172=) n.380A>G c.1692A>G (p.Pro564=) c.1494A>G (p.Pro498=) c.1467A>G (p.Pro489=) n.470A>G n.5801A>G c.1779A>G (p.Pro593=) c.1605A>G (p.Pro535=) c.1581A>G (p.Pro527=) c.714A>G (p.Pro238=) c.627A>G (p.Pro209=) c.540A>G (p.Pro180=) n.579A>G | dbSNP gnomAD v3 gnomAD v4 |
17 | g.45991546A>T | CA500370509 | MAPT | c.429A>T (p.Pro143=) c.342A>T (p.Pro114=) n.581A>T c.516A>T (p.Pro172=) n.380A>T c.1692A>T (p.Pro564=) c.1494A>T (p.Pro498=) c.1467A>T (p.Pro489=) n.470A>T n.5801A>T c.1779A>T (p.Pro593=) c.1605A>T (p.Pro535=) c.1581A>T (p.Pro527=) c.714A>T (p.Pro238=) c.627A>T (p.Pro209=) c.540A>T (p.Pro180=) n.579A>T | |
17 | g.45991547G>A | CA399977713 | MAPT | c.430G>A (p.Ala144Thr) c.343G>A (p.Ala115Thr) n.582G>A c.517G>A (p.Ala173Thr) n.381G>A c.1693G>A (p.Ala565Thr) c.1495G>A (p.Ala499Thr) c.1468G>A (p.Ala490Thr) n.471G>A n.5802G>A c.1780G>A (p.Ala594Thr) c.1606G>A (p.Ala536Thr) c.1582G>A (p.Ala528Thr) c.715G>A (p.Ala239Thr) c.628G>A (p.Ala210Thr) c.541G>A (p.Ala181Thr) n.580G>A | dbSNP gnomAD v2 gnomAD v4 |
17 | g.45991547G>C | CA399977714 | MAPT | c.430G>C (p.Ala144Pro) c.343G>C (p.Ala115Pro) n.582G>C c.517G>C (p.Ala173Pro) n.381G>C c.1693G>C (p.Ala565Pro) c.1495G>C (p.Ala499Pro) c.1468G>C (p.Ala490Pro) n.471G>C n.5802G>C c.1780G>C (p.Ala594Pro) c.1606G>C (p.Ala536Pro) c.1582G>C (p.Ala528Pro) c.715G>C (p.Ala239Pro) c.628G>C (p.Ala210Pro) c.541G>C (p.Ala181Pro) n.580G>C | |
17 | g.45991547G= | CA2262092895 | MAPT | c.430G= (p.Ala144=) c.343G= (p.Ala115=) n.582G= c.517G= (p.Ala173=) n.381G= c.1693G= (p.Ala565=) c.1495G= (p.Ala499=) c.1468G= (p.Ala490=) n.471G= n.5802G= c.1780G= (p.Ala594=) c.1606G= (p.Ala536=) c.1582G= (p.Ala528=) c.715G= (p.Ala239=) c.628G= (p.Ala210=) c.541G= (p.Ala181=) n.580G= | |
17 | g.45991547G>T | CA399977715 | MAPT | c.430G>T (p.Ala144Ser) c.343G>T (p.Ala115Ser) n.582G>T c.517G>T (p.Ala173Ser) n.381G>T c.1693G>T (p.Ala565Ser) c.1495G>T (p.Ala499Ser) c.1468G>T (p.Ala490Ser) n.471G>T n.5802G>T c.1780G>T (p.Ala594Ser) c.1606G>T (p.Ala536Ser) c.1582G>T (p.Ala528Ser) c.715G>T (p.Ala239Ser) c.628G>T (p.Ala210Ser) c.541G>T (p.Ala181Ser) n.580G>T | |
17 | g.45991548C>A | CA399977717 | MAPT | c.431C>A (p.Ala144Glu) c.344C>A (p.Ala115Glu) n.583C>A c.518C>A (p.Ala173Glu) n.382C>A c.1694C>A (p.Ala565Glu) c.1496C>A (p.Ala499Glu) c.1469C>A (p.Ala490Glu) n.472C>A n.5803C>A c.1781C>A (p.Ala594Glu) c.1607C>A (p.Ala536Glu) c.1583C>A (p.Ala528Glu) c.716C>A (p.Ala239Glu) c.629C>A (p.Ala210Glu) c.542C>A (p.Ala181Glu) n.581C>A | |
17 | g.45991548C>G | CA399977718 | MAPT | c.431C>G (p.Ala144Gly) c.344C>G (p.Ala115Gly) n.583C>G c.518C>G (p.Ala173Gly) n.382C>G c.1694C>G (p.Ala565Gly) c.1496C>G (p.Ala499Gly) c.1469C>G (p.Ala490Gly) n.472C>G n.5803C>G c.1781C>G (p.Ala594Gly) c.1607C>G (p.Ala536Gly) c.1583C>G (p.Ala528Gly) c.716C>G (p.Ala239Gly) c.629C>G (p.Ala210Gly) c.542C>G (p.Ala181Gly) n.581C>G | |
17 | g.45991548C>T | CA399977716 | MAPT | c.431C>T (p.Ala144Val) c.344C>T (p.Ala115Val) n.583C>T c.518C>T (p.Ala173Val) n.382C>T c.1694C>T (p.Ala565Val) c.1496C>T (p.Ala499Val) c.1469C>T (p.Ala490Val) n.472C>T n.5803C>T c.1781C>T (p.Ala594Val) c.1607C>T (p.Ala536Val) c.1583C>T (p.Ala528Val) c.716C>T (p.Ala239Val) c.629C>T (p.Ala210Val) c.542C>T (p.Ala181Val) n.581C>T | |
17 | g.45991549A>C | CA500370511 | MAPT | c.432A>C (p.Ala144=) c.345A>C (p.Ala115=) n.584A>C c.519A>C (p.Ala173=) n.383A>C c.1695A>C (p.Ala565=) c.1497A>C (p.Ala499=) c.1470A>C (p.Ala490=) n.473A>C n.5804A>C c.1782A>C (p.Ala594=) c.1608A>C (p.Ala536=) c.1584A>C (p.Ala528=) c.717A>C (p.Ala239=) c.630A>C (p.Ala210=) c.543A>C (p.Ala181=) n.582A>C | |
17 | g.45991549A>G | CA500370513 | MAPT | c.432A>G (p.Ala144=) c.345A>G (p.Ala115=) n.584A>G c.519A>G (p.Ala173=) n.383A>G c.1695A>G (p.Ala565=) c.1497A>G (p.Ala499=) c.1470A>G (p.Ala490=) n.473A>G n.5804A>G c.1782A>G (p.Ala594=) c.1608A>G (p.Ala536=) c.1584A>G (p.Ala528=) c.717A>G (p.Ala239=) c.630A>G (p.Ala210=) c.543A>G (p.Ala181=) n.582A>G | |
17 | g.45991549A>T | CA500370512 | MAPT | c.432A>T (p.Ala144=) c.345A>T (p.Ala115=) n.584A>T c.519A>T (p.Ala173=) n.383A>T c.1695A>T (p.Ala565=) c.1497A>T (p.Ala499=) c.1470A>T (p.Ala490=) n.473A>T n.5804A>T c.1782A>T (p.Ala594=) c.1608A>T (p.Ala536=) c.1584A>T (p.Ala528=) c.717A>T (p.Ala239=) c.630A>T (p.Ala210=) c.543A>T (p.Ala181=) n.582A>T | |
17 | g.45991550A>C | CA399977721 | MAPT | c.433A>C (p.Lys145Gln) c.346A>C (p.Lys116Gln) n.585A>C c.520A>C (p.Lys174Gln) n.384A>C c.1696A>C (p.Lys566Gln) c.1498A>C (p.Lys500Gln) c.1471A>C (p.Lys491Gln) n.474A>C n.5805A>C c.1783A>C (p.Lys595Gln) c.1609A>C (p.Lys537Gln) c.1585A>C (p.Lys529Gln) c.718A>C (p.Lys240Gln) c.631A>C (p.Lys211Gln) c.544A>C (p.Lys182Gln) n.583A>C | |
17 | g.45991550A>G | CA399977719 | MAPT | c.433A>G (p.Lys145Glu) c.346A>G (p.Lys116Glu) n.585A>G c.520A>G (p.Lys174Glu) n.384A>G c.1696A>G (p.Lys566Glu) c.1498A>G (p.Lys500Glu) c.1471A>G (p.Lys491Glu) n.474A>G n.5805A>G c.1783A>G (p.Lys595Glu) c.1609A>G (p.Lys537Glu) c.1585A>G (p.Lys529Glu) c.718A>G (p.Lys240Glu) c.631A>G (p.Lys211Glu) c.544A>G (p.Lys182Glu) n.583A>G | |
17 | g.45991550A>T | CA399977720 | MAPT | c.433A>T (p.Lys145Ter) c.346A>T (p.Lys116Ter) n.585A>T c.520A>T (p.Lys174Ter) n.384A>T c.1696A>T (p.Lys566Ter) c.1498A>T (p.Lys500Ter) c.1471A>T (p.Lys491Ter) n.474A>T n.5805A>T c.1783A>T (p.Lys595Ter) c.1609A>T (p.Lys537Ter) c.1585A>T (p.Lys529Ter) c.718A>T (p.Lys240Ter) c.631A>T (p.Lys211Ter) c.544A>T (p.Lys182Ter) n.583A>T | |
17 | g.45991551A>C | CA399977722 | MAPT | c.434A>C (p.Lys145Thr) c.347A>C (p.Lys116Thr) n.586A>C c.521A>C (p.Lys174Thr) n.385A>C c.1697A>C (p.Lys566Thr) c.1499A>C (p.Lys500Thr) c.1472A>C (p.Lys491Thr) n.475A>C n.5806A>C c.1784A>C (p.Lys595Thr) c.1610A>C (p.Lys537Thr) c.1586A>C (p.Lys529Thr) c.719A>C (p.Lys240Thr) c.632A>C (p.Lys211Thr) c.545A>C (p.Lys182Thr) n.584A>C | |
17 | g.45991551A>G | CA399977723 | MAPT | c.434A>G (p.Lys145Arg) c.347A>G (p.Lys116Arg) n.586A>G c.521A>G (p.Lys174Arg) n.385A>G c.1697A>G (p.Lys566Arg) c.1499A>G (p.Lys500Arg) c.1472A>G (p.Lys491Arg) n.475A>G n.5806A>G c.1784A>G (p.Lys595Arg) c.1610A>G (p.Lys537Arg) c.1586A>G (p.Lys529Arg) c.719A>G (p.Lys240Arg) c.632A>G (p.Lys211Arg) c.545A>G (p.Lys182Arg) n.584A>G | COSMIC COSMIC |
17 | g.45991551A>T | CA399977724 | MAPT | c.434A>T (p.Lys145Ile) c.347A>T (p.Lys116Ile) n.586A>T c.521A>T (p.Lys174Ile) n.385A>T c.1697A>T (p.Lys566Ile) c.1499A>T (p.Lys500Ile) c.1472A>T (p.Lys491Ile) n.475A>T n.5806A>T c.1784A>T (p.Lys595Ile) c.1610A>T (p.Lys537Ile) c.1586A>T (p.Lys529Ile) c.719A>T (p.Lys240Ile) c.632A>T (p.Lys211Ile) c.545A>T (p.Lys182Ile) n.584A>T | |
17 | g.45991552A>C | CA399977725 | MAPT | c.435A>C (p.Lys145Asn) c.348A>C (p.Lys116Asn) n.587A>C c.522A>C (p.Lys174Asn) n.386A>C c.1698A>C (p.Lys566Asn) c.1500A>C (p.Lys500Asn) c.1473A>C (p.Lys491Asn) n.476A>C n.5807A>C c.1785A>C (p.Lys595Asn) c.1611A>C (p.Lys537Asn) c.1587A>C (p.Lys529Asn) c.720A>C (p.Lys240Asn) c.633A>C (p.Lys211Asn) c.546A>C (p.Lys182Asn) n.585A>C | |
17 | g.45991552A>G | CA500370514 | MAPT | c.435A>G (p.Lys145=) c.348A>G (p.Lys116=) n.587A>G c.522A>G (p.Lys174=) n.386A>G c.1698A>G (p.Lys566=) c.1500A>G (p.Lys500=) c.1473A>G (p.Lys491=) n.476A>G n.5807A>G c.1785A>G (p.Lys595=) c.1611A>G (p.Lys537=) c.1587A>G (p.Lys529=) c.720A>G (p.Lys240=) c.633A>G (p.Lys211=) c.546A>G (p.Lys182=) n.585A>G | |
17 | g.45991552A>T | CA399977726 | MAPT | c.435A>T (p.Lys145Asn) c.348A>T (p.Lys116Asn) n.587A>T c.522A>T (p.Lys174Asn) n.386A>T c.1698A>T (p.Lys566Asn) c.1500A>T (p.Lys500Asn) c.1473A>T (p.Lys491Asn) n.476A>T n.5807A>T c.1785A>T (p.Lys595Asn) c.1611A>T (p.Lys537Asn) c.1587A>T (p.Lys529Asn) c.720A>T (p.Lys240Asn) c.633A>T (p.Lys211Asn) c.546A>T (p.Lys182Asn) n.585A>T | |
17 | g.45991553A= | CA2262092896 | MAPT | c.436A= (p.Thr146=) c.349A= (p.Thr117=) n.588A= c.523A= (p.Thr175=) n.387A= c.1699A= (p.Thr567=) c.1501A= (p.Thr501=) c.1474A= (p.Thr492=) n.477A= n.5808A= c.1786A= (p.Thr596=) c.1612A= (p.Thr538=) c.1588A= (p.Thr530=) c.721A= (p.Thr241=) c.634A= (p.Thr212=) c.547A= (p.Thr183=) n.586A= | |
17 | g.45991553A>C | CA8617978 | MAPT | c.436A>C (p.Thr146Pro) c.349A>C (p.Thr117Pro) n.588A>C c.523A>C (p.Thr175Pro) n.387A>C c.1699A>C (p.Thr567Pro) c.1501A>C (p.Thr501Pro) c.1474A>C (p.Thr492Pro) n.477A>C n.5808A>C c.1786A>C (p.Thr596Pro) c.1612A>C (p.Thr538Pro) c.1588A>C (p.Thr530Pro) c.721A>C (p.Thr241Pro) c.634A>C (p.Thr212Pro) c.547A>C (p.Thr183Pro) n.586A>C | dbSNP ExAC gnomAD v2 |
17 | g.45991553A>G | CA399977728 | MAPT | c.436A>G (p.Thr146Ala) c.349A>G (p.Thr117Ala) n.588A>G c.523A>G (p.Thr175Ala) n.387A>G c.1699A>G (p.Thr567Ala) c.1501A>G (p.Thr501Ala) c.1474A>G (p.Thr492Ala) n.477A>G n.5808A>G c.1786A>G (p.Thr596Ala) c.1612A>G (p.Thr538Ala) c.1588A>G (p.Thr530Ala) c.721A>G (p.Thr241Ala) c.634A>G (p.Thr212Ala) c.547A>G (p.Thr183Ala) n.586A>G | |
17 | g.45991553A>T | CA399977727 | MAPT | c.436A>T (p.Thr146Ser) c.349A>T (p.Thr117Ser) n.588A>T c.523A>T (p.Thr175Ser) n.387A>T c.1699A>T (p.Thr567Ser) c.1501A>T (p.Thr501Ser) c.1474A>T (p.Thr492Ser) n.477A>T n.5808A>T c.1786A>T (p.Thr596Ser) c.1612A>T (p.Thr538Ser) c.1588A>T (p.Thr530Ser) c.721A>T (p.Thr241Ser) c.634A>T (p.Thr212Ser) c.547A>T (p.Thr183Ser) n.586A>T | gnomAD v4 |
17 | g.45991554C>A | CA399977729 | MAPT | c.437C>A (p.Thr146Asn) c.350C>A (p.Thr117Asn) n.589C>A c.524C>A (p.Thr175Asn) n.388C>A c.1700C>A (p.Thr567Asn) c.1502C>A (p.Thr501Asn) c.1475C>A (p.Thr492Asn) n.478C>A n.5809C>A c.1787C>A (p.Thr596Asn) c.1613C>A (p.Thr538Asn) c.1589C>A (p.Thr530Asn) c.722C>A (p.Thr241Asn) c.635C>A (p.Thr212Asn) c.548C>A (p.Thr183Asn) n.587C>A | gnomAD v4 |
17 | g.45991554C>G | CA399977730 | MAPT | c.437C>G (p.Thr146Ser) c.350C>G (p.Thr117Ser) n.589C>G c.524C>G (p.Thr175Ser) n.388C>G c.1700C>G (p.Thr567Ser) c.1502C>G (p.Thr501Ser) c.1475C>G (p.Thr492Ser) n.478C>G n.5809C>G c.1787C>G (p.Thr596Ser) c.1613C>G (p.Thr538Ser) c.1589C>G (p.Thr530Ser) c.722C>G (p.Thr241Ser) c.635C>G (p.Thr212Ser) c.548C>G (p.Thr183Ser) n.587C>G | |
17 | g.45991554C>T | CA399977731 | MAPT | c.437C>T (p.Thr146Ile) c.350C>T (p.Thr117Ile) n.589C>T c.524C>T (p.Thr175Ile) n.388C>T c.1700C>T (p.Thr567Ile) c.1502C>T (p.Thr501Ile) c.1475C>T (p.Thr492Ile) n.478C>T n.5809C>T c.1787C>T (p.Thr596Ile) c.1613C>T (p.Thr538Ile) c.1589C>T (p.Thr530Ile) c.722C>T (p.Thr241Ile) c.635C>T (p.Thr212Ile) c.548C>T (p.Thr183Ile) n.587C>T | ClinVar |
17 | g.45991555C>A | CA8617979 | MAPT | c.438C>A (p.Thr146=) c.351C>A (p.Thr117=) n.590C>A c.525C>A (p.Thr175=) n.389C>A c.1701C>A (p.Thr567=) c.1503C>A (p.Thr501=) c.1476C>A (p.Thr492=) n.479C>A n.5810C>A c.1788C>A (p.Thr596=) c.1614C>A (p.Thr538=) c.1590C>A (p.Thr530=) c.723C>A (p.Thr241=) c.636C>A (p.Thr212=) c.549C>A (p.Thr183=) n.588C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.45991555C= | CA2262092897 | MAPT | c.438C= (p.Thr146=) c.351C= (p.Thr117=) n.590C= c.525C= (p.Thr175=) n.389C= c.1701C= (p.Thr567=) c.1503C= (p.Thr501=) c.1476C= (p.Thr492=) n.479C= n.5810C= c.1788C= (p.Thr596=) c.1614C= (p.Thr538=) c.1590C= (p.Thr530=) c.723C= (p.Thr241=) c.636C= (p.Thr212=) c.549C= (p.Thr183=) n.588C= | |
17 | g.45991555C>G | CA500370516 | MAPT | c.438C>G (p.Thr146=) c.351C>G (p.Thr117=) n.590C>G c.525C>G (p.Thr175=) n.389C>G c.1701C>G (p.Thr567=) c.1503C>G (p.Thr501=) c.1476C>G (p.Thr492=) n.479C>G n.5810C>G c.1788C>G (p.Thr596=) c.1614C>G (p.Thr538=) c.1590C>G (p.Thr530=) c.723C>G (p.Thr241=) c.636C>G (p.Thr212=) c.549C>G (p.Thr183=) n.588C>G | |
17 | g.45991555C>T | CA500370515 | MAPT | c.438C>T (p.Thr146=) c.351C>T (p.Thr117=) n.590C>T c.525C>T (p.Thr175=) n.389C>T c.1701C>T (p.Thr567=) c.1503C>T (p.Thr501=) c.1476C>T (p.Thr492=) n.479C>T n.5810C>T c.1788C>T (p.Thr596=) c.1614C>T (p.Thr538=) c.1590C>T (p.Thr530=) c.723C>T (p.Thr241=) c.636C>T (p.Thr212=) c.549C>T (p.Thr183=) n.588C>T | |
17 | g.45991556C>A | CA399977732 | MAPT | c.439C>A (p.Pro147Thr) c.352C>A (p.Pro118Thr) n.591C>A c.526C>A (p.Pro176Thr) n.390C>A c.1702C>A (p.Pro568Thr) c.1504C>A (p.Pro502Thr) c.1477C>A (p.Pro493Thr) n.480C>A n.5811C>A c.1789C>A (p.Pro597Thr) c.1615C>A (p.Pro539Thr) c.1591C>A (p.Pro531Thr) c.724C>A (p.Pro242Thr) c.637C>A (p.Pro213Thr) c.550C>A (p.Pro184Thr) n.589C>A | |
17 | g.45991556C>G | CA399977734 | MAPT | c.439C>G (p.Pro147Ala) c.352C>G (p.Pro118Ala) n.591C>G c.526C>G (p.Pro176Ala) n.390C>G c.1702C>G (p.Pro568Ala) c.1504C>G (p.Pro502Ala) c.1477C>G (p.Pro493Ala) n.480C>G n.5811C>G c.1789C>G (p.Pro597Ala) c.1615C>G (p.Pro539Ala) c.1591C>G (p.Pro531Ala) c.724C>G (p.Pro242Ala) c.637C>G (p.Pro213Ala) c.550C>G (p.Pro184Ala) n.589C>G | gnomAD v4 |
17 | g.45991556C>T | CA399977733 | MAPT | c.439C>T (p.Pro147Ser) c.352C>T (p.Pro118Ser) n.591C>T c.526C>T (p.Pro176Ser) n.390C>T c.1702C>T (p.Pro568Ser) c.1504C>T (p.Pro502Ser) c.1477C>T (p.Pro493Ser) n.480C>T n.5811C>T c.1789C>T (p.Pro597Ser) c.1615C>T (p.Pro539Ser) c.1591C>T (p.Pro531Ser) c.724C>T (p.Pro242Ser) c.637C>T (p.Pro213Ser) c.550C>T (p.Pro184Ser) n.589C>T | |
17 | g.45991557C>A | CA399977735 | MAPT | c.440C>A (p.Pro147Gln) c.353C>A (p.Pro118Gln) n.592C>A c.527C>A (p.Pro176Gln) n.391C>A c.1703C>A (p.Pro568Gln) c.1505C>A (p.Pro502Gln) c.1478C>A (p.Pro493Gln) n.481C>A n.5812C>A c.1790C>A (p.Pro597Gln) c.1616C>A (p.Pro539Gln) c.1592C>A (p.Pro531Gln) c.725C>A (p.Pro242Gln) c.638C>A (p.Pro213Gln) c.551C>A (p.Pro184Gln) n.590C>A | |
17 | g.45991557C= | CA2262092898 | MAPT | c.440C= (p.Pro147=) c.353C= (p.Pro118=) n.592C= c.527C= (p.Pro176=) n.391C= c.1703C= (p.Pro568=) c.1505C= (p.Pro502=) c.1478C= (p.Pro493=) n.481C= n.5812C= c.1790C= (p.Pro597=) c.1616C= (p.Pro539=) c.1592C= (p.Pro531=) c.725C= (p.Pro242=) c.638C= (p.Pro213=) c.551C= (p.Pro184=) n.590C= | |
17 | g.45991557C>G | CA399977736 | MAPT | c.440C>G (p.Pro147Arg) c.353C>G (p.Pro118Arg) n.592C>G c.527C>G (p.Pro176Arg) n.391C>G c.1703C>G (p.Pro568Arg) c.1505C>G (p.Pro502Arg) c.1478C>G (p.Pro493Arg) n.481C>G n.5812C>G c.1790C>G (p.Pro597Arg) c.1616C>G (p.Pro539Arg) c.1592C>G (p.Pro531Arg) c.725C>G (p.Pro242Arg) c.638C>G (p.Pro213Arg) c.551C>G (p.Pro184Arg) n.590C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.45991557C>T | CA399977737 | MAPT | c.440C>T (p.Pro147Leu) c.353C>T (p.Pro118Leu) n.592C>T c.527C>T (p.Pro176Leu) n.391C>T c.1703C>T (p.Pro568Leu) c.1505C>T (p.Pro502Leu) c.1478C>T (p.Pro493Leu) n.481C>T n.5812C>T c.1790C>T (p.Pro597Leu) c.1616C>T (p.Pro539Leu) c.1592C>T (p.Pro531Leu) c.725C>T (p.Pro242Leu) c.638C>T (p.Pro213Leu) c.551C>T (p.Pro184Leu) n.590C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
17 | g.45991558G>A | CA225401 | MAPT | c.441G>A (p.Pro147=) c.354G>A (p.Pro118=) n.593G>A c.528G>A (p.Pro176=) n.392G>A c.1704G>A (p.Pro568=) c.1506G>A (p.Pro502=) c.1479G>A (p.Pro493=) n.482G>A n.5813G>A c.1791G>A (p.Pro597=) c.1617G>A (p.Pro539=) c.1593G>A (p.Pro531=) c.726G>A (p.Pro242=) c.639G>A (p.Pro213=) c.552G>A (p.Pro184=) n.590+1G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.45991558G>C | CA500370517 | MAPT | c.441G>C (p.Pro147=) c.354G>C (p.Pro118=) n.593G>C c.528G>C (p.Pro176=) n.392G>C c.1704G>C (p.Pro568=) c.1506G>C (p.Pro502=) c.1479G>C (p.Pro493=) n.482G>C n.5813G>C c.1791G>C (p.Pro597=) c.1617G>C (p.Pro539=) c.1593G>C (p.Pro531=) c.726G>C (p.Pro242=) c.639G>C (p.Pro213=) c.552G>C (p.Pro184=) n.590+1G>C | |
17 | g.45991558G= | CA2262092899 | MAPT | c.441G= (p.Pro147=) c.354G= (p.Pro118=) n.593G= c.528G= (p.Pro176=) n.392G= c.1704G= (p.Pro568=) c.1506G= (p.Pro502=) c.1479G= (p.Pro493=) n.482G= n.5813G= c.1791G= (p.Pro597=) c.1617G= (p.Pro539=) c.1593G= (p.Pro531=) c.726G= (p.Pro242=) c.639G= (p.Pro213=) c.552G= (p.Pro184=) n.590+1G= | |
17 | g.45991558G>T | CA8617980 | MAPT | c.441G>T (p.Pro147=) c.354G>T (p.Pro118=) n.593G>T c.528G>T (p.Pro176=) n.392G>T c.1704G>T (p.Pro568=) c.1506G>T (p.Pro502=) c.1479G>T (p.Pro493=) n.482G>T n.5813G>T c.1791G>T (p.Pro597=) c.1617G>T (p.Pro539=) c.1593G>T (p.Pro531=) c.726G>T (p.Pro242=) c.639G>T (p.Pro213=) c.552G>T (p.Pro184=) n.590+1G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.45991559C>A | CA399977738 | MAPT | c.442C>A (p.Pro148Thr) c.355C>A (p.Pro119Thr) n.594C>A c.529C>A (p.Pro177Thr) n.393C>A c.1705C>A (p.Pro569Thr) c.1507C>A (p.Pro503Thr) c.1480C>A (p.Pro494Thr) n.483C>A n.5814C>A c.1792C>A (p.Pro598Thr) c.1618C>A (p.Pro540Thr) c.1594C>A (p.Pro532Thr) c.727C>A (p.Pro243Thr) c.640C>A (p.Pro214Thr) c.553C>A (p.Pro185Thr) n.590+2C>A | |
17 | g.45991559C= | CA2262092900 | MAPT | c.442C= (p.Pro148=) c.355C= (p.Pro119=) n.594C= c.529C= (p.Pro177=) n.393C= c.1705C= (p.Pro569=) c.1507C= (p.Pro503=) c.1480C= (p.Pro494=) n.483C= n.5814C= c.1792C= (p.Pro598=) c.1618C= (p.Pro540=) c.1594C= (p.Pro532=) c.727C= (p.Pro243=) c.640C= (p.Pro214=) c.553C= (p.Pro185=) n.590+2C= | |
17 | g.45991559C>G | CA399977739 | MAPT | c.442C>G (p.Pro148Ala) c.355C>G (p.Pro119Ala) n.594C>G c.529C>G (p.Pro177Ala) n.393C>G c.1705C>G (p.Pro569Ala) c.1507C>G (p.Pro503Ala) c.1480C>G (p.Pro494Ala) n.483C>G n.5814C>G c.1792C>G (p.Pro598Ala) c.1618C>G (p.Pro540Ala) c.1594C>G (p.Pro532Ala) c.727C>G (p.Pro243Ala) c.640C>G (p.Pro214Ala) c.553C>G (p.Pro185Ala) n.590+2C>G | |
17 | g.45991559C>T | CA399977740 | MAPT | c.442C>T (p.Pro148Ser) c.355C>T (p.Pro119Ser) n.594C>T c.529C>T (p.Pro177Ser) n.393C>T c.1705C>T (p.Pro569Ser) c.1507C>T (p.Pro503Ser) c.1480C>T (p.Pro494Ser) n.483C>T n.5814C>T c.1792C>T (p.Pro598Ser) c.1618C>T (p.Pro540Ser) c.1594C>T (p.Pro532Ser) c.727C>T (p.Pro243Ser) c.640C>T (p.Pro214Ser) c.553C>T (p.Pro185Ser) n.590+2C>T | dbSNP gnomAD v3 gnomAD v4 |
17 | g.45991560C>A | CA399977741 | MAPT | c.443C>A (p.Pro148His) c.356C>A (p.Pro119His) n.595C>A c.530C>A (p.Pro177His) n.394C>A c.1706C>A (p.Pro569His) c.1508C>A (p.Pro503His) c.1481C>A (p.Pro494His) n.484C>A n.5815C>A c.1793C>A (p.Pro598His) c.1619C>A (p.Pro540His) c.1595C>A (p.Pro532His) c.728C>A (p.Pro243His) c.641C>A (p.Pro214His) c.554C>A (p.Pro185His) n.590+3C>A | |
17 | g.45991560C= | CA2262092901 | MAPT | c.443C= (p.Pro148=) c.356C= (p.Pro119=) n.595C= c.530C= (p.Pro177=) n.394C= c.1706C= (p.Pro569=) c.1508C= (p.Pro503=) c.1481C= (p.Pro494=) n.484C= n.5815C= c.1793C= (p.Pro598=) c.1619C= (p.Pro540=) c.1595C= (p.Pro532=) c.728C= (p.Pro243=) c.641C= (p.Pro214=) c.554C= (p.Pro185=) n.590+3C= | |
17 | g.45991560C>G | CA399977742 | MAPT | c.443C>G (p.Pro148Arg) c.356C>G (p.Pro119Arg) n.595C>G c.530C>G (p.Pro177Arg) n.394C>G c.1706C>G (p.Pro569Arg) c.1508C>G (p.Pro503Arg) c.1481C>G (p.Pro494Arg) n.484C>G n.5815C>G c.1793C>G (p.Pro598Arg) c.1619C>G (p.Pro540Arg) c.1595C>G (p.Pro532Arg) c.728C>G (p.Pro243Arg) c.641C>G (p.Pro214Arg) c.554C>G (p.Pro185Arg) n.590+3C>G | |
17 | g.45991560C>T | CA8617981 | MAPT | c.443C>T (p.Pro148Leu) c.356C>T (p.Pro119Leu) n.595C>T c.530C>T (p.Pro177Leu) n.394C>T c.1706C>T (p.Pro569Leu) c.1508C>T (p.Pro503Leu) c.1481C>T (p.Pro494Leu) n.484C>T n.5815C>T c.1793C>T (p.Pro598Leu) c.1619C>T (p.Pro540Leu) c.1595C>T (p.Pro532Leu) c.728C>T (p.Pro243Leu) c.641C>T (p.Pro214Leu) c.554C>T (p.Pro185Leu) n.590+3C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.45991561C>A | CA500370518 | MAPT | c.444C>A (p.Pro148=) c.357C>A (p.Pro119=) n.596C>A c.531C>A (p.Pro177=) n.395C>A c.1707C>A (p.Pro569=) c.1509C>A (p.Pro503=) c.1482C>A (p.Pro494=) n.485C>A n.5816C>A c.1794C>A (p.Pro598=) c.1620C>A (p.Pro540=) c.1596C>A (p.Pro532=) c.729C>A (p.Pro243=) c.642C>A (p.Pro214=) c.555C>A (p.Pro185=) n.590+4C>A | |
17 | g.45991561C= | CA2262092902 | MAPT | c.444C= (p.Pro148=) c.357C= (p.Pro119=) n.596C= c.531C= (p.Pro177=) n.395C= c.1707C= (p.Pro569=) c.1509C= (p.Pro503=) c.1482C= (p.Pro494=) n.485C= n.5816C= c.1794C= (p.Pro598=) c.1620C= (p.Pro540=) c.1596C= (p.Pro532=) c.729C= (p.Pro243=) c.642C= (p.Pro214=) c.555C= (p.Pro185=) n.590+4C= | |
17 | g.45991561C>G | CA500370519 | MAPT | c.444C>G (p.Pro148=) c.357C>G (p.Pro119=) n.596C>G c.531C>G (p.Pro177=) n.395C>G c.1707C>G (p.Pro569=) c.1509C>G (p.Pro503=) c.1482C>G (p.Pro494=) n.485C>G n.5816C>G c.1794C>G (p.Pro598=) c.1620C>G (p.Pro540=) c.1596C>G (p.Pro532=) c.729C>G (p.Pro243=) c.642C>G (p.Pro214=) c.555C>G (p.Pro185=) n.590+4C>G | dbSNP gnomAD v2 gnomAD v4 |
17 | g.45991561C>T | CA8617982 | MAPT | c.444C>T (p.Pro148=) c.357C>T (p.Pro119=) n.596C>T c.531C>T (p.Pro177=) n.395C>T c.1707C>T (p.Pro569=) c.1509C>T (p.Pro503=) c.1482C>T (p.Pro494=) n.485C>T n.5816C>T c.1794C>T (p.Pro598=) c.1620C>T (p.Pro540=) c.1596C>T (p.Pro532=) c.729C>T (p.Pro243=) c.642C>T (p.Pro214=) c.555C>T (p.Pro185=) n.590+4C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.45991562G>A | CA225403 | MAPT | c.445G>A (p.Ala149Thr) c.358G>A (p.Ala120Thr) n.597G>A c.532G>A (p.Ala178Thr) n.396G>A c.1708G>A (p.Ala570Thr) c.1510G>A (p.Ala504Thr) c.1483G>A (p.Ala495Thr) n.486G>A n.5817G>A c.1795G>A (p.Ala599Thr) c.1621G>A (p.Ala541Thr) c.1597G>A (p.Ala533Thr) c.730G>A (p.Ala244Thr) c.643G>A (p.Ala215Thr) c.556G>A (p.Ala186Thr) n.590+5G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
17 | g.45991562G>C | CA399977744 | MAPT | c.445G>C (p.Ala149Pro) c.358G>C (p.Ala120Pro) n.597G>C c.532G>C (p.Ala178Pro) n.396G>C c.1708G>C (p.Ala570Pro) c.1510G>C (p.Ala504Pro) c.1483G>C (p.Ala495Pro) n.486G>C n.5817G>C c.1795G>C (p.Ala599Pro) c.1621G>C (p.Ala541Pro) c.1597G>C (p.Ala533Pro) c.730G>C (p.Ala244Pro) c.643G>C (p.Ala215Pro) c.556G>C (p.Ala186Pro) n.590+5G>C | dbSNP |
17 | g.45991562G= | CA2262092903 | MAPT | c.445G= (p.Ala149=) c.358G= (p.Ala120=) n.597G= c.532G= (p.Ala178=) n.396G= c.1708G= (p.Ala570=) c.1510G= (p.Ala504=) c.1483G= (p.Ala495=) n.486G= n.5817G= c.1795G= (p.Ala599=) c.1621G= (p.Ala541=) c.1597G= (p.Ala533=) c.730G= (p.Ala244=) c.643G= (p.Ala215=) c.556G= (p.Ala186=) n.590+5G= | |
17 | g.45991562G>T | CA399977743 | MAPT | c.445G>T (p.Ala149Ser) c.358G>T (p.Ala120Ser) n.597G>T c.532G>T (p.Ala178Ser) n.396G>T c.1708G>T (p.Ala570Ser) c.1510G>T (p.Ala504Ser) c.1483G>T (p.Ala495Ser) n.486G>T n.5817G>T c.1795G>T (p.Ala599Ser) c.1621G>T (p.Ala541Ser) c.1597G>T (p.Ala533Ser) c.730G>T (p.Ala244Ser) c.643G>T (p.Ala215Ser) c.556G>T (p.Ala186Ser) n.590+5G>T | |
17 | g.45991563C>A | CA399977745 | MAPT | c.446C>A (p.Ala149Asp) c.359C>A (p.Ala120Asp) n.598C>A c.533C>A (p.Ala178Asp) n.397C>A c.1709C>A (p.Ala570Asp) c.1511C>A (p.Ala504Asp) c.1484C>A (p.Ala495Asp) n.487C>A n.5818C>A c.1796C>A (p.Ala599Asp) c.1622C>A (p.Ala541Asp) c.1598C>A (p.Ala533Asp) c.731C>A (p.Ala244Asp) c.644C>A (p.Ala215Asp) c.557C>A (p.Ala186Asp) n.590+6C>A | |
17 | g.45991563C>G | CA399977746 | MAPT | c.446C>G (p.Ala149Gly) c.359C>G (p.Ala120Gly) n.598C>G c.533C>G (p.Ala178Gly) n.397C>G c.1709C>G (p.Ala570Gly) c.1511C>G (p.Ala504Gly) c.1484C>G (p.Ala495Gly) n.487C>G n.5818C>G c.1796C>G (p.Ala599Gly) c.1622C>G (p.Ala541Gly) c.1598C>G (p.Ala533Gly) c.731C>G (p.Ala244Gly) c.644C>G (p.Ala215Gly) c.557C>G (p.Ala186Gly) n.590+6C>G | |
17 | g.45991563C>T | CA399977747 | MAPT | c.446C>T (p.Ala149Val) c.359C>T (p.Ala120Val) n.598C>T c.533C>T (p.Ala178Val) n.397C>T c.1709C>T (p.Ala570Val) c.1511C>T (p.Ala504Val) c.1484C>T (p.Ala495Val) n.487C>T n.5818C>T c.1796C>T (p.Ala599Val) c.1622C>T (p.Ala541Val) c.1598C>T (p.Ala533Val) c.731C>T (p.Ala244Val) c.644C>T (p.Ala215Val) c.557C>T (p.Ala186Val) n.590+6C>T | |
17 | g.45991564T>A | CA500370520 | MAPT | c.447T>A (p.Ala149=) c.360T>A (p.Ala120=) n.599T>A c.534T>A (p.Ala178=) n.398T>A c.1710T>A (p.Ala570=) c.1512T>A (p.Ala504=) c.1485T>A (p.Ala495=) n.488T>A n.5819T>A c.1797T>A (p.Ala599=) c.1623T>A (p.Ala541=) c.1599T>A (p.Ala533=) c.732T>A (p.Ala244=) c.645T>A (p.Ala215=) c.558T>A (p.Ala186=) n.590+7T>A | |
17 | g.45991564T>C | CA500370521 | MAPT | c.447T>C (p.Ala149=) c.360T>C (p.Ala120=) n.599T>C c.534T>C (p.Ala178=) n.398T>C c.1710T>C (p.Ala570=) c.1512T>C (p.Ala504=) c.1485T>C (p.Ala495=) n.488T>C n.5819T>C c.1797T>C (p.Ala599=) c.1623T>C (p.Ala541=) c.1599T>C (p.Ala533=) c.732T>C (p.Ala244=) c.645T>C (p.Ala215=) c.558T>C (p.Ala186=) n.590+7T>C | |
17 | g.45991564T>G | CA500370522 | MAPT | c.447T>G (p.Ala149=) c.360T>G (p.Ala120=) n.599T>G c.534T>G (p.Ala178=) n.398T>G c.1710T>G (p.Ala570=) c.1512T>G (p.Ala504=) c.1485T>G (p.Ala495=) n.488T>G n.5819T>G c.1797T>G (p.Ala599=) c.1623T>G (p.Ala541=) c.1599T>G (p.Ala533=) c.732T>G (p.Ala244=) c.645T>G (p.Ala215=) c.558T>G (p.Ala186=) n.590+7T>G | |
17 | g.45991565C>A | CA399977748 | MAPT | c.448C>A (p.Pro150Thr) c.361C>A (p.Pro121Thr) n.600C>A c.535C>A (p.Pro179Thr) n.399C>A c.1711C>A (p.Pro571Thr) c.1513C>A (p.Pro505Thr) c.1486C>A (p.Pro496Thr) n.489C>A n.5820C>A c.1798C>A (p.Pro600Thr) c.1624C>A (p.Pro542Thr) c.1600C>A (p.Pro534Thr) c.733C>A (p.Pro245Thr) c.646C>A (p.Pro216Thr) c.559C>A (p.Pro187Thr) n.590+8C>A | |
17 | g.45991565C>G | CA399977749 | MAPT | c.448C>G (p.Pro150Ala) c.361C>G (p.Pro121Ala) n.600C>G c.535C>G (p.Pro179Ala) n.399C>G c.1711C>G (p.Pro571Ala) c.1513C>G (p.Pro505Ala) c.1486C>G (p.Pro496Ala) n.489C>G n.5820C>G c.1798C>G (p.Pro600Ala) c.1624C>G (p.Pro542Ala) c.1600C>G (p.Pro534Ala) c.733C>G (p.Pro245Ala) c.646C>G (p.Pro216Ala) c.559C>G (p.Pro187Ala) n.590+8C>G | |
17 | g.45991565C>T | CA399977750 | MAPT | c.448C>T (p.Pro150Ser) c.361C>T (p.Pro121Ser) n.600C>T c.535C>T (p.Pro179Ser) n.399C>T c.1711C>T (p.Pro571Ser) c.1513C>T (p.Pro505Ser) c.1486C>T (p.Pro496Ser) n.489C>T n.5820C>T c.1798C>T (p.Pro600Ser) c.1624C>T (p.Pro542Ser) c.1600C>T (p.Pro534Ser) c.733C>T (p.Pro245Ser) c.646C>T (p.Pro216Ser) c.559C>T (p.Pro187Ser) n.590+8C>T | |
17 | g.45991566C>A | CA399977751 | MAPT | c.449C>A (p.Pro150Gln) c.362C>A (p.Pro121Gln) n.601C>A c.536C>A (p.Pro179Gln) n.400C>A c.1712C>A (p.Pro571Gln) c.1514C>A (p.Pro505Gln) c.1487C>A (p.Pro496Gln) n.490C>A n.5821C>A c.1799C>A (p.Pro600Gln) c.1625C>A (p.Pro542Gln) c.1601C>A (p.Pro534Gln) c.734C>A (p.Pro245Gln) c.647C>A (p.Pro216Gln) c.560C>A (p.Pro187Gln) n.590+9C>A | |
17 | g.45991566C>G | CA399977752 | MAPT | c.449C>G (p.Pro150Arg) c.362C>G (p.Pro121Arg) n.601C>G c.536C>G (p.Pro179Arg) n.400C>G c.1712C>G (p.Pro571Arg) c.1514C>G (p.Pro505Arg) c.1487C>G (p.Pro496Arg) n.490C>G n.5821C>G c.1799C>G (p.Pro600Arg) c.1625C>G (p.Pro542Arg) c.1601C>G (p.Pro534Arg) c.734C>G (p.Pro245Arg) c.647C>G (p.Pro216Arg) c.560C>G (p.Pro187Arg) n.590+9C>G | |
17 | g.45991566C>T | CA399977753 | MAPT | c.449C>T (p.Pro150Leu) c.362C>T (p.Pro121Leu) n.601C>T c.536C>T (p.Pro179Leu) n.400C>T c.1712C>T (p.Pro571Leu) c.1514C>T (p.Pro505Leu) c.1487C>T (p.Pro496Leu) n.490C>T n.5821C>T c.1799C>T (p.Pro600Leu) c.1625C>T (p.Pro542Leu) c.1601C>T (p.Pro534Leu) c.734C>T (p.Pro245Leu) c.647C>T (p.Pro216Leu) c.560C>T (p.Pro187Leu) n.590+9C>T | |
17 | g.45991567A>C | CA500370524 | MAPT | c.450A>C (p.Pro150=) c.363A>C (p.Pro121=) n.602A>C c.537A>C (p.Pro179=) n.401A>C c.1713A>C (p.Pro571=) c.1515A>C (p.Pro505=) c.1488A>C (p.Pro496=) n.491A>C n.5822A>C c.1800A>C (p.Pro600=) c.1626A>C (p.Pro542=) c.1602A>C (p.Pro534=) c.735A>C (p.Pro245=) c.648A>C (p.Pro216=) c.561A>C (p.Pro187=) n.590+10A>C | |
17 | g.45991567A>G | CA500370525 | MAPT | c.450A>G (p.Pro150=) c.363A>G (p.Pro121=) n.602A>G c.537A>G (p.Pro179=) n.401A>G c.1713A>G (p.Pro571=) c.1515A>G (p.Pro505=) c.1488A>G (p.Pro496=) n.491A>G n.5822A>G c.1800A>G (p.Pro600=) c.1626A>G (p.Pro542=) c.1602A>G (p.Pro534=) c.735A>G (p.Pro245=) c.648A>G (p.Pro216=) c.561A>G (p.Pro187=) n.590+10A>G | |
17 | g.45991567A>T | CA500370523 | MAPT | c.450A>T (p.Pro150=) c.363A>T (p.Pro121=) n.602A>T c.537A>T (p.Pro179=) n.401A>T c.1713A>T (p.Pro571=) c.1515A>T (p.Pro505=) c.1488A>T (p.Pro496=) n.491A>T n.5822A>T c.1800A>T (p.Pro600=) c.1626A>T (p.Pro542=) c.1602A>T (p.Pro534=) c.735A>T (p.Pro245=) c.648A>T (p.Pro216=) c.561A>T (p.Pro187=) n.590+10A>T | |
17 | g.45991568A>C | CA399977754 | MAPT | c.451A>C (p.Lys151Gln) c.364A>C (p.Lys122Gln) n.603A>C c.538A>C (p.Lys180Gln) n.402A>C c.1714A>C (p.Lys572Gln) c.1516A>C (p.Lys506Gln) c.1489A>C (p.Lys497Gln) n.492A>C n.5823A>C c.1801A>C (p.Lys601Gln) c.1627A>C (p.Lys543Gln) c.1603A>C (p.Lys535Gln) c.736A>C (p.Lys246Gln) c.649A>C (p.Lys217Gln) c.562A>C (p.Lys188Gln) n.590+11A>C | |
17 | g.45991568A>G | CA399977755 | MAPT | c.451A>G (p.Lys151Glu) c.364A>G (p.Lys122Glu) n.603A>G c.538A>G (p.Lys180Glu) n.402A>G c.1714A>G (p.Lys572Glu) c.1516A>G (p.Lys506Glu) c.1489A>G (p.Lys497Glu) n.492A>G n.5823A>G c.1801A>G (p.Lys601Glu) c.1627A>G (p.Lys543Glu) c.1603A>G (p.Lys535Glu) c.736A>G (p.Lys246Glu) c.649A>G (p.Lys217Glu) c.562A>G (p.Lys188Glu) n.590+11A>G | gnomAD v4 |
17 | g.45991568A>T | CA399977756 | MAPT | c.451A>T (p.Lys151Ter) c.364A>T (p.Lys122Ter) n.603A>T c.538A>T (p.Lys180Ter) n.402A>T c.1714A>T (p.Lys572Ter) c.1516A>T (p.Lys506Ter) c.1489A>T (p.Lys497Ter) n.492A>T n.5823A>T c.1801A>T (p.Lys601Ter) c.1627A>T (p.Lys543Ter) c.1603A>T (p.Lys535Ter) c.736A>T (p.Lys246Ter) c.649A>T (p.Lys217Ter) c.562A>T (p.Lys188Ter) n.590+11A>T |