Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.45991468T>ACA399977557MAPTc.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
17g.45991468T>CCA500370454MAPTc.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
17g.45991468T>GCA399977558MAPTc.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
17g.45991468T=CA2262092858MAPTc.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=
17g.45991469G>ACA399977559MAPTc.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
17g.45991469G>CCA399977560MAPTc.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
17g.45991469G>TCA399977561MAPTc.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
17g.45991470G>ACA399977562MAPTc.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
17g.45991470G>CCA399977563MAPTc.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
17g.45991470G=CA2262092859MAPTc.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=
17g.45991470G>TCA399977564MAPTc.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
17g.45991471T>ACA500370457MAPTc.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
17g.45991471T>CCA500370455MAPTc.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
17g.45991471T>GCA500370456MAPTc.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
17g.45991471_45991472delinsTACA2262092860MAPTc.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
17g.45991472A>CCA399977565MAPTc.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
17g.45991472A>GCA399977566MAPTc.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
17g.45991472A>TCA399977567MAPTc.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
17g.45991474_45991475dupCA2638369690MAPTc.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
17g.45991475delCA291106234MAPTc.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
17g.45991473A>CCA399977568MAPTc.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
17g.45991473A>GCA399977570MAPTc.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
17g.45991473A>TCA399977569MAPTc.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
17g.45991474A>CCA399977571MAPTc.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
17g.45991474A>GCA500370458MAPTc.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
17g.45991474A>TCA399977572MAPTc.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
17g.45991475A=CA2262092861MAPTc.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=
17g.45991475A>CCA399977573MAPTc.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
17g.45991475A>GCA399977574MAPTc.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
17g.45991475A>TCA399977575MAPTc.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
17g.45991476C>ACA399977576MAPTc.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
17g.45991476C=CA2262092862MAPTc.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=
17g.45991476C>GCA399977577MAPTc.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
17g.45991476C>TCA291106236MAPTc.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
17g.45991477G>ACA8617959MAPTc.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
17g.45991477G>CCA500370459MAPTc.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
17g.45991477G=CA2262092863MAPTc.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=
17g.45991477G>TCA500370460MAPTc.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
17g.45991479_45991481delCA2638369705MAPTc.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
17g.45991478A>CCA399977579MAPTc.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
17g.45991478A>GCA399977580MAPTc.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
17g.45991478A>TCA399977578MAPTc.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
17g.45991479A>CCA399977581MAPTc.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
17g.45991479A>GCA399977582MAPTc.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
17g.45991479A>TCA399977583MAPTc.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
17g.45991480G>ACA500370461MAPTc.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
17g.45991480G>CCA399977584MAPTc.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
17g.45991480G>TCA399977585MAPTc.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
17g.45991481A=CA2262092864MAPTc.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=
17g.45991481A>CCA399977586MAPTc.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
17g.45991481A>GCA291106238MAPTc.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
17g.45991481A>TCA399977587MAPTc.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
17g.45991482T>ACA399977588MAPTc.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
17g.45991482T>CCA8617960MAPTc.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
17g.45991482T>GCA399977589MAPTc.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
17g.45991482T=CA2262092865MAPTc.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=
17g.45991483C>ACA500370462MAPTc.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
17g.45991483C=CA2262092866MAPTc.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=
17g.45991483C>GCA399977590MAPTc.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
17g.45991483C>TCA8617961MAPTc.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
17g.45991484G>ACA8617962MAPTc.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
17g.45991484G>CCA399977591MAPTc.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
17g.45991484G=CA2262092867MAPTc.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=
17g.45991484G>TCA8617963MAPTc.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
17g.45991485C>ACA399977592MAPTc.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
17g.45991485C>GCA399977593MAPTc.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
17g.45991485C>TCA399977594MAPTc.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
17g.45991486C>ACA8617964MAPTc.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
17g.45991486C=CA2262092868MAPTc.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=
17g.45991486C>GCA500370463MAPTc.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
17g.45991486C>TCA500370464MAPTc.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
17g.45991487A>CCA399977595MAPTc.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
17g.45991487A>GCA399977596MAPTc.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
17g.45991487A>TCA399977597MAPTc.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
17g.45991488C>ACA399977598MAPTc.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
17g.45991488C>GCA399977599MAPTc.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
17g.45991488C>TCA399977600MAPTc.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
17g.45991489A>CCA500370466MAPTc.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
17g.45991489A>GCA500370465MAPTc.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
17g.45991489A>TCA500370467MAPTc.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
17g.45991490C>ACA399977601MAPTc.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
17g.45991490C>GCA399977602MAPTc.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
17g.45991490C>TCA399977603MAPTc.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
17g.45991491C>ACA399977606MAPTc.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
17g.45991491C=CA2262092869MAPTc.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=
17g.45991491C>GCA399977605MAPTc.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
17g.45991491C>TCA399977604MAPTc.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
17g.45991492G>ACA8617965MAPTc.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
17g.45991492G>CCA500370469MAPTc.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
17g.45991492G=CA2262092870MAPTc.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=
17g.45991492G>TCA500370468MAPTc.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
17g.45991493C>ACA500370470MAPTc.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
17g.45991493C=CA2262092871MAPTc.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=
17g.45991493C>GCA399977607MAPTc.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
17g.45991493C>TCA8617966MAPTc.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
17g.45991494G>ACA399977608MAPTc.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
17g.45991494G>CCA399977609MAPTc.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
17g.45991494G>TCA399977610MAPTc.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
17g.45991497delCA2576299118MAPTc.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
17g.45991495G>ACA500370473MAPTc.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
17g.45991495G>CCA500370472MAPTc.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
17g.45991495G=CA2262092872MAPTc.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=
17g.45991495G>TCA500370471MAPTc.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
17g.45991496G>ACA291106244MAPTc.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
17g.45991496G>CCA399977612MAPTc.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
17g.45991496G=CA2262092873MAPTc.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=
17g.45991496G>TCA399977611MAPTc.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
17g.45991497G>ACA399977613MAPTc.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
17g.45991497G>CCA399977614MAPTc.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
17g.45991497G=CA2262092874MAPTc.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=
17g.45991497G>TCA399977615MAPTc.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
17g.45991498A>CCA500370475MAPTc.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
17g.45991498A>GCA500370474MAPTc.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
17g.45991498A>TCA500370476MAPTc.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
17g.45991499G>ACA399977616MAPTc.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
17g.45991499G>CCA399977617MAPTc.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
17g.45991499G>TCA399977618MAPTc.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
17g.45991500C>ACA399977621MAPTc.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
17g.45991500C>GCA399977619MAPTc.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
17g.45991500C>TCA399977620MAPTc.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
17g.45991501A>CCA500370478MAPTc.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
17g.45991501A>GCA500370479MAPTc.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
17g.45991501A>TCA500370477MAPTc.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
17g.45991502G>ACA399977622MAPTc.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
17g.45991502G>CCA399977623MAPTc.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
17g.45991502G>TCA399977624MAPTc.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
17g.45991503C>ACA399977625MAPTc.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
17g.45991503C=CA2262092875MAPTc.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=
17g.45991503C>GCA399977626MAPTc.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
17g.45991503C>TCA291106246MAPTc.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
17g.45991504C>ACA8617967MAPTc.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
17g.45991504C=CA2262092876MAPTc.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=
17g.45991504C>GCA500370481MAPTc.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
17g.45991504C>TCA500370480MAPTc.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
17g.45991505C>ACA399977627MAPTc.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
17g.45991505C=CA2262092877MAPTc.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=
17g.45991505C>GCA399977628MAPTc.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
17g.45991505C>TCA399977629MAPTc.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
17g.45991506C>ACA399977630MAPTc.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
17g.45991506C=CA2262092878MAPTc.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=
17g.45991506C>GCA399977631MAPTc.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
17g.45991506C>TCA8617968MAPTc.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
17g.45991507T>ACA500370484MAPTc.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
17g.45991507T>CCA500370482MAPTc.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
17g.45991507T>GCA500370483MAPTc.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
17g.45991508C>ACA399977632MAPTc.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
17g.45991508C=CA2262092879MAPTc.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=
17g.45991508C>GCA399977634MAPTc.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
17g.45991508C>TCA399977633MAPTc.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
17g.45991509C>ACA399977635MAPTc.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
17g.45991509C>GCA399977636MAPTc.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
17g.45991509C>TCA399977637MAPTc.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
17g.45991510A>CCA500370485MAPTc.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
17g.45991510A>GCA500370486MAPTc.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
17g.45991510A>TCA500370487MAPTc.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
17g.45991511G>ACA399977638MAPTc.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
17g.45991511G>CCA399977639MAPTc.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
17g.45991511G=CA2262092880MAPTc.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=
17g.45991511G>TCA399977640MAPTc.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
17g.45991512G>ACA399977641MAPTc.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
17g.45991512G>CCA399977642MAPTc.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
17g.45991512G>TCA399977643MAPTc.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
17g.45991513C>ACA500370489MAPTc.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
17g.45991513C>GCA500370488MAPTc.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
17g.45991513C>TCA500370490MAPTc.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
17g.45991514C>ACA399977644MAPTc.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
17g.45991514C>GCA399977645MAPTc.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
17g.45991514C>TCA399977646MAPTc.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
17g.45991515A>CCA399977649MAPTc.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
17g.45991515A>GCA399977648MAPTc.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
17g.45991515A>TCA399977647MAPTc.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
17g.45991516G>ACA500370491MAPTc.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
17g.45991516G>CCA399977650MAPTc.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
17g.45991516G>TCA399977651MAPTc.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
17g.45991517A=CA2262092881MAPTc.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=
17g.45991517A>CCA399977652MAPTc.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
17g.45991517A>GCA399977653MAPTc.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
17g.45991517A>TCA399977654MAPTc.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
17g.45991518A>CCA399977655MAPTc.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
17g.45991518A>GCA399977656MAPTc.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
17g.45991518A>TCA399977657MAPTc.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
17g.45991519G>ACA500370492MAPTc.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
17g.45991519G>CCA399977658MAPTc.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
17g.45991519G>TCA399977659MAPTc.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
17g.45991520G>ACA399977660MAPTc.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
17g.45991520G>CCA399977661MAPTc.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
17g.45991520G=CA2262092882MAPTc.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=
17g.45991520G>TCA399977662MAPTc.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
17g.45991521G>ACA399977664MAPTc.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
17g.45991521G>CCA399977665MAPTc.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
17g.45991521G>TCA399977663MAPTc.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
17g.45991522C>ACA500370493MAPTc.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
17g.45991522C>GCA500370494MAPTc.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
17g.45991522C>TCA500370495MAPTc.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
17g.45991523C>ACA399977666MAPTc.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
17g.45991523C>GCA399977668MAPTc.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
17g.45991523C>TCA399977667MAPTc.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
17g.45991524A=CA2262092883MAPTc.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=
17g.45991524A>CCA8617970MAPTc.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
17g.45991524A>GCA8617969MAPTc.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
17g.45991524A>TCA399977669MAPTc.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
17g.45991525G>ACA8617971MAPTc.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
17g.45991525G>CCA399977670MAPTc.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
17g.45991525G=CA2262092884MAPTc.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=
17g.45991525G>TCA399977671MAPTc.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
17g.45991526G>ACA399977672MAPTc.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
17g.45991526G>CCA399977673MAPTc.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
17g.45991526G>TCA399977674MAPTc.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
17g.45991527C>ACA399977675MAPTc.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
17g.45991527C=CA2262092885MAPTc.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=
17g.45991527C>GCA399977676MAPTc.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
17g.45991527C>TCA8617972MAPTc.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
17g.45991528C>ACA500370496MAPTc.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
17g.45991528C>GCA500370498MAPTc.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
17g.45991528C>TCA500370497MAPTc.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
17g.45991529A>CCA399977679MAPTc.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
17g.45991529A>GCA399977678MAPTc.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
17g.45991529A>TCA399977677MAPTc.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
17g.45991530A=CA2262092886MAPTc.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=
17g.45991530A>CCA399977680MAPTc.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
17g.45991530A>GCA8617973MAPTc.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
17g.45991530A>TCA399977681MAPTc.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
17g.45991531C>ACA399977682MAPTc.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
17g.45991531C=CA2262092887MAPTc.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=
17g.45991531C>GCA399977683MAPTc.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
17g.45991531C>TCA500370499MAPTc.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
17g.45991532G>ACA8617974MAPTc.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
17g.45991532G>CCA399977684MAPTc.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
17g.45991532G=CA2262092888MAPTc.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=
17g.45991532G>TCA399977685MAPTc.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
17g.45991533C>ACA8617975MAPTc.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
17g.45991533C=CA2262092889MAPTc.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=
17g.45991533C>GCA399977686MAPTc.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
17g.45991533C>TCA399977687MAPTc.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
17g.45991534C>ACA500370502MAPTc.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
17g.45991534C>GCA500370501MAPTc.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
17g.45991534C>TCA500370500MAPTc.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
17g.45991535A>CCA399977689MAPTc.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
17g.45991535A>GCA399977690MAPTc.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
17g.45991535A>TCA399977688MAPTc.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
17g.45991536C>ACA399977691MAPTc.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
17g.45991536C>GCA399977692MAPTc.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
17g.45991536C>TCA399977693MAPTc.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
17g.45991537C>ACA500370505MAPTc.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
17g.45991537C>GCA500370504MAPTc.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
17g.45991537C>TCA500370503MAPTc.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
17g.45991538A>CCA500370506MAPTc.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
17g.45991538A>GCA399977694MAPTc.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
17g.45991538A>TCA399977695MAPTc.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
17g.45991539G>ACA8617976MAPTc.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
17g.45991539G>CCA399977696MAPTc.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
17g.45991539G=CA2262092890MAPTc.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=
17g.45991539G>TCA399977697MAPTc.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
17g.45991540G>ACA8617977MAPTc.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
17g.45991540G>CCA399977698MAPTc.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
17g.45991540G=CA2262092891MAPTc.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=
17g.45991540G>TCA399977699MAPTc.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
17g.45991541A>CCA399977701MAPTc.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
17g.45991541A>GCA399977702MAPTc.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
17g.45991541A>TCA399977700MAPTc.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
17g.45991542T>ACA399977703MAPTc.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
17g.45991542T>CCA399977704MAPTc.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
17g.45991542T>GCA399977705MAPTc.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
17g.45991542T=CA2262092892MAPTc.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=
17g.45991543T>ACA500370507MAPTc.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
17g.45991543T>CCA500370508MAPTc.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
17g.45991543T>GCA399977706MAPTc.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
17g.45991544C>ACA399977709MAPTc.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
17g.45991544C=CA2262092893MAPTc.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=
17g.45991544C>GCA399977708MAPTc.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
17g.45991544C>TCA399977707MAPTc.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
17g.45991545C>ACA399977710MAPTc.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
17g.45991545C>GCA399977711MAPTc.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
17g.45991545C>TCA399977712MAPTc.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
17g.45991546A=CA2262092894MAPTc.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=
17g.45991546A>CCA500370510MAPTc.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
17g.45991546A>GCA291106254MAPTc.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
17g.45991546A>TCA500370509MAPTc.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
17g.45991547G>ACA399977713MAPTc.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
17g.45991547G>CCA399977714MAPTc.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
17g.45991547G=CA2262092895MAPTc.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=
17g.45991547G>TCA399977715MAPTc.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
17g.45991548C>ACA399977717MAPTc.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
17g.45991548C>GCA399977718MAPTc.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
17g.45991548C>TCA399977716MAPTc.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
17g.45991549A>CCA500370511MAPTc.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
17g.45991549A>GCA500370513MAPTc.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
17g.45991549A>TCA500370512MAPTc.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
17g.45991550A>CCA399977721MAPTc.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
17g.45991550A>GCA399977719MAPTc.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
17g.45991550A>TCA399977720MAPTc.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
17g.45991551A>CCA399977722MAPTc.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
17g.45991551A>GCA399977723MAPTc.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
17g.45991551A>TCA399977724MAPTc.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
17g.45991552A>CCA399977725MAPTc.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
17g.45991552A>GCA500370514MAPTc.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
17g.45991552A>TCA399977726MAPTc.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
17g.45991553A=CA2262092896MAPTc.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=
17g.45991553A>CCA8617978MAPTc.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
17g.45991553A>GCA399977728MAPTc.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
17g.45991553A>TCA399977727MAPTc.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
17g.45991554C>ACA399977729MAPTc.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
17g.45991554C>GCA399977730MAPTc.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
17g.45991554C>TCA399977731MAPTc.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
17g.45991555C>ACA8617979MAPTc.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
17g.45991555C=CA2262092897MAPTc.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=
17g.45991555C>GCA500370516MAPTc.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
17g.45991555C>TCA500370515MAPTc.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
17g.45991556C>ACA399977732MAPTc.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
17g.45991556C>GCA399977734MAPTc.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
17g.45991556C>TCA399977733MAPTc.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
17g.45991557C>ACA399977735MAPTc.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
17g.45991557C=CA2262092898MAPTc.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=
17g.45991557C>GCA399977736MAPTc.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
17g.45991557C>TCA399977737MAPTc.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
17g.45991558G>ACA225401MAPTc.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
17g.45991558G>CCA500370517MAPTc.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
17g.45991558G=CA2262092899MAPTc.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=
17g.45991558G>TCA8617980MAPTc.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
17g.45991559C>ACA399977738MAPTc.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
17g.45991559C=CA2262092900MAPTc.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=
17g.45991559C>GCA399977739MAPTc.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
17g.45991559C>TCA399977740MAPTc.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
17g.45991560C>ACA399977741MAPTc.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
17g.45991560C=CA2262092901MAPTc.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=
17g.45991560C>GCA399977742MAPTc.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
17g.45991560C>TCA8617981MAPTc.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
17g.45991561C>ACA500370518MAPTc.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
17g.45991561C=CA2262092902MAPTc.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=
17g.45991561C>GCA500370519MAPTc.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
17g.45991561C>TCA8617982MAPTc.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
17g.45991562G>ACA225403MAPTc.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
17g.45991562G>CCA399977744MAPTc.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
17g.45991562G=CA2262092903MAPTc.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=
17g.45991562G>TCA399977743MAPTc.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
17g.45991563C>ACA399977745MAPTc.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
17g.45991563C>GCA399977746MAPTc.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
17g.45991563C>TCA399977747MAPTc.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
17g.45991564T>ACA500370520MAPTc.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
17g.45991564T>CCA500370521MAPTc.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
17g.45991564T>GCA500370522MAPTc.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
17g.45991565C>ACA399977748MAPTc.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
17g.45991565C>GCA399977749MAPTc.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
17g.45991565C>TCA399977750MAPTc.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
17g.45991566C>ACA399977751MAPTc.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
17g.45991566C>GCA399977752MAPTc.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
17g.45991566C>TCA399977753MAPTc.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
17g.45991567A>CCA500370524MAPTc.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
17g.45991567A>GCA500370525MAPTc.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
17g.45991567A>TCA500370523MAPTc.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
17g.45991568A>CCA399977754MAPTc.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
17g.45991568A>GCA399977755MAPTc.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
17g.45991568A>TCA399977756MAPTc.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

Number of alleles fetched