Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.11022131A>CCA338364106MASP2,TARDBPc.1459T>G (n.1459T>G)
c.722A>C (p.Gln241Pro)
c.*303A>C (n.*303A>C)
c.*611A>C (n.*611A>C)
c.21A>C
c.200A>C (p.Gln67Pro)
c.102A>C
c.362A>C (p.Gln121Pro)
c.175A>C
c.463A>C
c.273A>C
c.551A>C (p.Gln184Pro)
c.469A>C
n.844A>C
1g.11022131A>GCA338364107MASP2,TARDBPc.1459T>C (n.1459T>C)
c.722A>G (p.Gln241Arg)
c.*303A>G (n.*303A>G)
c.*611A>G (n.*611A>G)
c.21A>G
c.200A>G (p.Gln67Arg)
c.102A>G
c.362A>G (p.Gln121Arg)
c.175A>G
c.463A>G
c.273A>G
c.551A>G (p.Gln184Arg)
c.469A>G
n.844A>G
1g.11022131A>TCA338364108MASP2,TARDBPc.1459T>A (n.1459T>A)
c.722A>T (p.Gln241Leu)
c.*303A>T (n.*303A>T)
c.*611A>T (n.*611A>T)
c.21A>T
c.200A>T (p.Gln67Leu)
c.102A>T
c.362A>T (p.Gln121Leu)
c.175A>T
c.463A>T
c.273A>T
c.551A>T (p.Gln184Leu)
c.469A>T
n.844A>T
1g.11022132G>ACA415908659MASP2,TARDBPc.1458C>T (n.1458C>T)
c.723G>A (p.Gln241=)
c.*304G>A (n.*304G>A)
c.*612G>A (n.*612G>A)
c.22G>A
c.201G>A (p.Gln67=)
c.103G>A
c.363G>A (p.Gln121=)
c.176G>A
c.464G>A
c.274G>A
c.552G>A (p.Gln184=)
c.470G>A
n.845G>A
1g.11022132G>CCA338364109MASP2,TARDBPc.1458C>G (n.1458C>G)
c.723G>C (p.Gln241His)
c.*304G>C (n.*304G>C)
c.*612G>C (n.*612G>C)
c.22G>C
c.201G>C (p.Gln67His)
c.103G>C
c.363G>C (p.Gln121His)
c.176G>C
c.464G>C
c.274G>C
c.552G>C (p.Gln184His)
c.470G>C
n.845G>C
1g.11022132G>TCA338364110MASP2,TARDBPc.1458C>A (n.1458C>A)
c.723G>T (p.Gln241His)
c.*304G>T (n.*304G>T)
c.*612G>T (n.*612G>T)
c.22G>T
c.201G>T (p.Gln67His)
c.103G>T
c.363G>T (p.Gln121His)
c.176G>T
c.464G>T
c.274G>T
c.552G>T (p.Gln184His)
c.470G>T
n.845G>T
1g.11022133T>ACA338364113MASP2,TARDBPc.1457A>T (n.1457A>T)
c.724T>A (p.Ser242Thr)
c.*305T>A (n.*305T>A)
c.*613T>A (n.*613T>A)
c.23T>A
c.202T>A (p.Ser68Thr)
c.104T>A
c.364T>A (p.Ser122Thr)
c.177T>A
c.465T>A
c.275T>A
c.553T>A (p.Ser185Thr)
c.471T>A
n.846T>A
1g.11022133T>CCA338364112MASP2,TARDBPc.1457A>G (n.1457A>G)
c.724T>C (p.Ser242Pro)
c.*305T>C (n.*305T>C)
c.*613T>C (n.*613T>C)
c.23T>C
c.202T>C (p.Ser68Pro)
c.104T>C
c.364T>C (p.Ser122Pro)
c.177T>C
c.465T>C
c.275T>C
c.553T>C (p.Ser185Pro)
c.471T>C
n.846T>C
1g.11022133T>GCA338364111MASP2,TARDBPc.1457A>C (n.1457A>C)
c.724T>G (p.Ser242Ala)
c.*305T>G (n.*305T>G)
c.*613T>G (n.*613T>G)
c.23T>G
c.202T>G (p.Ser68Ala)
c.104T>G
c.364T>G (p.Ser122Ala)
c.177T>G
c.465T>G
c.275T>G
c.553T>G (p.Ser185Ala)
c.471T>G
n.846T>G
1g.11022134C>ACA338364114MASP2,TARDBPc.1456G>T (n.1456G>T)
c.725C>A (p.Ser242Tyr)
c.*306C>A (n.*306C>A)
c.*614C>A (n.*614C>A)
c.24C>A
c.203C>A (p.Ser68Tyr)
c.105C>A
c.365C>A (p.Ser122Tyr)
c.178C>A
c.466C>A
c.276C>A
c.554C>A (p.Ser185Tyr)
c.472C>A
n.847C>A
1g.11022134C>GCA338364115MASP2,TARDBPc.1456G>C (n.1456G>C)
c.725C>G (p.Ser242Cys)
c.*306C>G (n.*306C>G)
c.*614C>G (n.*614C>G)
c.24C>G
c.203C>G (p.Ser68Cys)
c.105C>G
c.365C>G (p.Ser122Cys)
c.178C>G
c.466C>G
c.276C>G
c.554C>G (p.Ser185Cys)
c.472C>G
n.847C>G
1g.11022134C>TCA338364116MASP2,TARDBPc.1456G>A (n.1456G>A)
c.725C>T (p.Ser242Phe)
c.*306C>T (n.*306C>T)
c.*614C>T (n.*614C>T)
c.24C>T
c.203C>T (p.Ser68Phe)
c.105C>T
c.365C>T (p.Ser122Phe)
c.178C>T
c.466C>T
c.276C>T
c.554C>T (p.Ser185Phe)
c.472C>T
n.847C>T
1g.11022135T>ACA415908686MASP2,TARDBPc.1455A>T (n.1455A>T)
c.726T>A (p.Ser242=)
c.*307T>A (n.*307T>A)
c.*615T>A (n.*615T>A)
c.25T>A
c.204T>A (p.Ser68=)
c.106T>A
c.366T>A (p.Ser122=)
c.179T>A
c.467T>A
c.277T>A
c.555T>A (p.Ser185=)
c.473T>A
n.848T>A
1g.11022135T>CCA415908691MASP2,TARDBPc.1455A>G (n.1455A>G)
c.726T>C (p.Ser242=)
c.*307T>C (n.*307T>C)
c.*615T>C (n.*615T>C)
c.25T>C
c.204T>C (p.Ser68=)
c.106T>C
c.366T>C (p.Ser122=)
c.179T>C
c.467T>C
c.277T>C
c.555T>C (p.Ser185=)
c.473T>C
n.848T>C
1g.11022135T>GCA415908689MASP2,TARDBPc.1455A>C (n.1455A>C)
c.726T>G (p.Ser242=)
c.*307T>G (n.*307T>G)
c.*615T>G (n.*615T>G)
c.25T>G
c.204T>G (p.Ser68=)
c.106T>G
c.366T>G (p.Ser122=)
c.179T>G
c.467T>G
c.277T>G
c.555T>G (p.Ser185=)
c.473T>G
n.848T>G
1g.11022136C>ACA338364117MASP2,TARDBPc.1454G>T (n.1454G>T)
c.727C>A (p.Leu243Ile)
c.*308C>A (n.*308C>A)
c.*616C>A (n.*616C>A)
c.26C>A
c.205C>A (p.Leu69Ile)
c.107C>A
c.367C>A (p.Leu123Ile)
c.180C>A
c.468C>A
c.278C>A
c.556C>A (p.Leu186Ile)
c.474C>A
n.849C>A
1g.11022136C>GCA338364118MASP2,TARDBPc.1454G>C (n.1454G>C)
c.727C>G (p.Leu243Val)
c.*308C>G (n.*308C>G)
c.*616C>G (n.*616C>G)
c.26C>G
c.205C>G (p.Leu69Val)
c.107C>G
c.367C>G (p.Leu123Val)
c.180C>G
c.468C>G
c.278C>G
c.556C>G (p.Leu186Val)
c.474C>G
n.849C>G
1g.11022136C>TCA338364119MASP2,TARDBPc.1454G>A (n.1454G>A)
c.727C>T (p.Leu243Phe)
c.*308C>T (n.*308C>T)
c.*616C>T (n.*616C>T)
c.26C>T
c.205C>T (p.Leu69Phe)
c.107C>T
c.367C>T (p.Leu123Phe)
c.180C>T
c.468C>T
c.278C>T
c.556C>T (p.Leu186Phe)
c.474C>T
n.849C>T
1g.11022137T>ACA338364120MASP2,TARDBPc.1453A>T (n.1453A>T)
c.728T>A (p.Leu243His)
c.*309T>A (n.*309T>A)
c.*617T>A (n.*617T>A)
c.27T>A
c.206T>A (p.Leu69His)
c.108T>A
c.368T>A (p.Leu123His)
c.181T>A
c.469T>A
c.279T>A
c.557T>A (p.Leu186His)
c.475T>A
n.850T>A
1g.11022137T>CCA338364122MASP2,TARDBPc.1453A>G (n.1453A>G)
c.728T>C (p.Leu243Pro)
c.*309T>C (n.*309T>C)
c.*617T>C (n.*617T>C)
c.27T>C
c.206T>C (p.Leu69Pro)
c.108T>C
c.368T>C (p.Leu123Pro)
c.181T>C
c.469T>C
c.279T>C
c.557T>C (p.Leu186Pro)
c.475T>C
n.850T>C
1g.11022137T>GCA338364121MASP2,TARDBPc.1453A>C (n.1453A>C)
c.728T>G (p.Leu243Arg)
c.*309T>G (n.*309T>G)
c.*617T>G (n.*617T>G)
c.27T>G
c.206T>G (p.Leu69Arg)
c.108T>G
c.368T>G (p.Leu123Arg)
c.181T>G
c.469T>G
c.279T>G
c.557T>G (p.Leu186Arg)
c.475T>G
n.850T>G
1g.11022138T>ACA415908715MASP2,TARDBPc.1452A>T (n.1452A>T)
c.729T>A (p.Leu243=)
c.*310T>A (n.*310T>A)
c.*618T>A (n.*618T>A)
c.28T>A
c.207T>A (p.Leu69=)
c.109T>A
c.369T>A (p.Leu123=)
c.182T>A
c.470T>A
c.280T>A
c.558T>A (p.Leu186=)
c.476T>A
n.851T>A
 dbSNP
1g.11022138T>CCA415908717MASP2,TARDBPc.1452A>G (n.1452A>G)
c.729T>C (p.Leu243=)
c.*310T>C (n.*310T>C)
c.*618T>C (n.*618T>C)
c.28T>C
c.207T>C (p.Leu69=)
c.109T>C
c.369T>C (p.Leu123=)
c.182T>C
c.470T>C
c.280T>C
c.558T>C (p.Leu186=)
c.476T>C
n.851T>C
1g.11022138T>GCA415908727MASP2,TARDBPc.1452A>C (n.1452A>C)
c.729T>G (p.Leu243=)
c.*310T>G (n.*310T>G)
c.*618T>G (n.*618T>G)
c.28T>G
c.207T>G (p.Leu69=)
c.109T>G
c.369T>G (p.Leu123=)
c.182T>G
c.470T>G
c.280T>G
c.558T>G (p.Leu186=)
c.476T>G
n.851T>G
1g.11022138T=CA1153490019MASP2,TARDBPc.1452A= (n.1452A=)
c.729T= (p.Leu243=)
c.*310T= (n.*310T=)
c.*618T= (n.*618T=)
c.28T=
c.207T= (p.Leu69=)
c.109T=
c.369T= (p.Leu123=)
c.182T=
c.470T=
c.280T=
c.558T= (p.Leu186=)
c.476T=
n.851T=
1g.11022139T>ACA338364123MASP2,TARDBPc.1451A>T (n.1451A>T)
c.730T>A (p.Cys244Ser)
c.*311T>A (n.*311T>A)
c.*619T>A (n.*619T>A)
c.29T>A
c.208T>A (p.Cys70Ser)
c.110T>A
c.370T>A (p.Cys124Ser)
c.183T>A
c.471T>A
c.281T>A
c.559T>A (p.Cys187Ser)
c.477T>A
n.852T>A
1g.11022139T>CCA338364124MASP2,TARDBPc.1451A>G (n.1451A>G)
c.730T>C (p.Cys244Arg)
c.*311T>C (n.*311T>C)
c.*619T>C (n.*619T>C)
c.29T>C
c.208T>C (p.Cys70Arg)
c.110T>C
c.370T>C (p.Cys124Arg)
c.183T>C
c.471T>C
c.281T>C
c.559T>C (p.Cys187Arg)
c.477T>C
n.852T>C
1g.11022139T>GCA338364125MASP2,TARDBPc.1451A>C (n.1451A>C)
c.730T>G (p.Cys244Gly)
c.*311T>G (n.*311T>G)
c.*619T>G (n.*619T>G)
c.29T>G
c.208T>G (p.Cys70Gly)
c.110T>G
c.370T>G (p.Cys124Gly)
c.183T>G
c.471T>G
c.281T>G
c.559T>G (p.Cys187Gly)
c.477T>G
n.852T>G
1g.11022140G>ACA338364126MASP2,TARDBPc.1450C>T (n.1450C>T)
c.731G>A (p.Cys244Tyr)
c.*312G>A (n.*312G>A)
c.*620G>A (n.*620G>A)
c.30G>A
c.209G>A (p.Cys70Tyr)
c.111G>A
c.371G>A (p.Cys124Tyr)
c.184G>A
c.472G>A
c.282G>A
c.560G>A (p.Cys187Tyr)
c.478G>A
n.853G>A
1g.11022140G>CCA338364127MASP2,TARDBPc.1450C>G (n.1450C>G)
c.731G>C (p.Cys244Ser)
c.*312G>C (n.*312G>C)
c.*620G>C (n.*620G>C)
c.30G>C
c.209G>C (p.Cys70Ser)
c.111G>C
c.371G>C (p.Cys124Ser)
c.184G>C
c.472G>C
c.282G>C
c.560G>C (p.Cys187Ser)
c.478G>C
n.853G>C
1g.11022140G>TCA338364128MASP2,TARDBPc.1450C>A (n.1450C>A)
c.731G>T (p.Cys244Phe)
c.*312G>T (n.*312G>T)
c.*620G>T (n.*620G>T)
c.30G>T
c.209G>T (p.Cys70Phe)
c.111G>T
c.371G>T (p.Cys124Phe)
c.184G>T
c.472G>T
c.282G>T
c.560G>T (p.Cys187Phe)
c.478G>T
n.853G>T
1g.11022141T>ACA338364129MASP2,TARDBPc.1449A>T (n.1449A>T)
c.732T>A (p.Cys244Ter)
c.*313T>A (n.*313T>A)
c.*621T>A (n.*621T>A)
c.31T>A
c.210T>A (p.Cys70Ter)
c.112T>A
c.372T>A (p.Cys124Ter)
c.185T>A
c.473T>A
c.283T>A
c.561T>A (p.Cys187Ter)
c.479T>A
n.854T>A
1g.11022141T>CCA415908750MASP2,TARDBPc.1449A>G (n.1449A>G)
c.732T>C (p.Cys244=)
c.*313T>C (n.*313T>C)
c.*621T>C (n.*621T>C)
c.31T>C
c.210T>C (p.Cys70=)
c.112T>C
c.372T>C (p.Cys124=)
c.185T>C
c.473T>C
c.283T>C
c.561T>C (p.Cys187=)
c.479T>C
n.854T>C
1g.11022141T>GCA338364130MASP2,TARDBPc.1449A>C (n.1449A>C)
c.732T>G (p.Cys244Trp)
c.*313T>G (n.*313T>G)
c.*621T>G (n.*621T>G)
c.31T>G
c.210T>G (p.Cys70Trp)
c.112T>G
c.372T>G (p.Cys124Trp)
c.185T>G
c.473T>G
c.283T>G
c.561T>G (p.Cys187Trp)
c.479T>G
n.854T>G
1g.11022142G>ACA338364131MASP2,TARDBPc.1448C>T (n.1448C>T)
c.733G>A (p.Gly245Arg)
c.*314G>A (n.*314G>A)
c.*622G>A (n.*622G>A)
c.32G>A
c.211G>A (p.Gly71Arg)
c.113G>A
c.373G>A (p.Gly125Arg)
c.186G>A
c.474G>A
c.284G>A
c.562G>A (p.Gly188Arg)
c.480G>A
n.855G>A
1g.11022142G>CCA338364132MASP2,TARDBPc.1448C>G (n.1448C>G)
c.733G>C (p.Gly245Arg)
c.*314G>C (n.*314G>C)
c.*622G>C (n.*622G>C)
c.32G>C
c.211G>C (p.Gly71Arg)
c.113G>C
c.373G>C (p.Gly125Arg)
c.186G>C
c.474G>C
c.284G>C
c.562G>C (p.Gly188Arg)
c.480G>C
n.855G>C
1g.11022142G>TCA338364133MASP2,TARDBPc.1448C>A (n.1448C>A)
c.733G>T (p.Gly245Ter)
c.*314G>T (n.*314G>T)
c.*622G>T (n.*622G>T)
c.32G>T
c.211G>T (p.Gly71Ter)
c.113G>T
c.373G>T (p.Gly125Ter)
c.186G>T
c.474G>T
c.284G>T
c.562G>T (p.Gly188Ter)
c.480G>T
n.855G>T
 COSMIC
1g.11022143G>ACA338364135MASP2,TARDBPc.1447C>T (n.1447C>T)
c.734G>A (p.Gly245Glu)
c.*315G>A (n.*315G>A)
c.*623G>A (n.*623G>A)
c.33G>A
c.212G>A (p.Gly71Glu)
c.114G>A
c.374G>A (p.Gly125Glu)
c.187G>A
c.475G>A
c.285G>A
c.563G>A (p.Gly188Glu)
c.481G>A
n.856G>A
1g.11022143G>CCA338364136MASP2,TARDBPc.1447C>G (n.1447C>G)
c.734G>C (p.Gly245Ala)
c.*315G>C (n.*315G>C)
c.*623G>C (n.*623G>C)
c.33G>C
c.212G>C (p.Gly71Ala)
c.114G>C
c.374G>C (p.Gly125Ala)
c.187G>C
c.475G>C
c.285G>C
c.563G>C (p.Gly188Ala)
c.481G>C
n.856G>C
1g.11022143G>TCA338364134MASP2,TARDBPc.1447C>A (n.1447C>A)
c.734G>T (p.Gly245Val)
c.*315G>T (n.*315G>T)
c.*623G>T (n.*623G>T)
c.33G>T
c.212G>T (p.Gly71Val)
c.114G>T
c.374G>T (p.Gly125Val)
c.187G>T
c.475G>T
c.285G>T
c.563G>T (p.Gly188Val)
c.481G>T
n.856G>T
1g.11022144A>CCA415908775MASP2,TARDBPc.1446T>G (n.1446T>G)
c.735A>C (p.Gly245=)
c.*316A>C (n.*316A>C)
c.*624A>C (n.*624A>C)
c.34A>C
c.213A>C (p.Gly71=)
c.115A>C
c.375A>C (p.Gly125=)
c.1A>C
c.188A>C
c.476A>C
c.286A>C
c.564A>C (p.Gly188=)
c.482A>C
n.857A>C
1g.11022144A>GCA415908779MASP2,TARDBPc.1446T>C (n.1446T>C)
c.735A>G (p.Gly245=)
c.*316A>G (n.*316A>G)
c.*624A>G (n.*624A>G)
c.34A>G
c.213A>G (p.Gly71=)
c.115A>G
c.375A>G (p.Gly125=)
c.1A>G
c.188A>G
c.476A>G
c.286A>G
c.564A>G (p.Gly188=)
c.482A>G
n.857A>G
1g.11022144A>TCA415908781MASP2,TARDBPc.1446T>A (n.1446T>A)
c.735A>T (p.Gly245=)
c.*316A>T (n.*316A>T)
c.*624A>T (n.*624A>T)
c.34A>T
c.213A>T (p.Gly71=)
c.115A>T
c.375A>T (p.Gly125=)
c.1A>T
c.188A>T
c.476A>T
c.286A>T
c.564A>T (p.Gly188=)
c.482A>T
n.857A>T
1g.11022145G>ACA338364137MASP2,TARDBPc.1445C>T (n.1445C>T)
c.736G>A (p.Glu246Lys)
c.*317G>A (n.*317G>A)
c.*625G>A (n.*625G>A)
c.35G>A
c.214G>A (p.Glu72Lys)
c.116G>A
c.376G>A (p.Glu126Lys)
c.2G>A
c.189G>A
c.477G>A
c.287G>A
c.565G>A (p.Glu189Lys)
c.483G>A
n.858G>A
1g.11022145G>CCA338364138MASP2,TARDBPc.1445C>G (n.1445C>G)
c.736G>C (p.Glu246Gln)
c.*317G>C (n.*317G>C)
c.*625G>C (n.*625G>C)
c.35G>C
c.214G>C (p.Glu72Gln)
c.116G>C
c.376G>C (p.Glu126Gln)
c.2G>C
c.189G>C
c.477G>C
c.287G>C
c.565G>C (p.Glu189Gln)
c.483G>C
n.858G>C
1g.11022145G>TCA338364139MASP2,TARDBPc.1445C>A (n.1445C>A)
c.736G>T (p.Glu246Ter)
c.*317G>T (n.*317G>T)
c.*625G>T (n.*625G>T)
c.35G>T
c.214G>T (p.Glu72Ter)
c.116G>T
c.376G>T (p.Glu126Ter)
c.2G>T
c.189G>T
c.477G>T
c.287G>T
c.565G>T (p.Glu189Ter)
c.483G>T
n.858G>T
1g.11022146A>CCA338364140MASP2,TARDBPc.1444T>G (n.1444T>G)
c.737A>C (p.Glu246Ala)
c.*318A>C (n.*318A>C)
c.*626A>C (n.*626A>C)
c.36A>C
c.215A>C (p.Glu72Ala)
c.117A>C
c.377A>C (p.Glu126Ala)
c.3A>C
c.190A>C
c.478A>C
c.288A>C
c.566A>C (p.Glu189Ala)
c.484A>C
n.859A>C
1g.11022146A>GCA338364141MASP2,TARDBPc.1444T>C (n.1444T>C)
c.737A>G (p.Glu246Gly)
c.*318A>G (n.*318A>G)
c.*626A>G (n.*626A>G)
c.36A>G
c.215A>G (p.Glu72Gly)
c.117A>G
c.377A>G (p.Glu126Gly)
c.3A>G
c.190A>G
c.478A>G
c.288A>G
c.566A>G (p.Glu189Gly)
c.484A>G
n.859A>G
1g.11022146A>TCA338364142MASP2,TARDBPc.1444T>A (n.1444T>A)
c.737A>T (p.Glu246Val)
c.*318A>T (n.*318A>T)
c.*626A>T (n.*626A>T)
c.36A>T
c.215A>T (p.Glu72Val)
c.117A>T
c.377A>T (p.Glu126Val)
c.3A>T
c.190A>T
c.478A>T
c.288A>T
c.566A>T (p.Glu189Val)
c.484A>T
n.859A>T
1g.11022147G>ACA415908805MASP2,TARDBPc.1443C>T (n.1443C>T)
c.738G>A (p.Glu246=)
c.*319G>A (n.*319G>A)
c.*627G>A (n.*627G>A)
c.37G>A
c.216G>A (p.Glu72=)
c.118G>A
c.378G>A (p.Glu126=)
c.4G>A
c.191G>A
c.479G>A
c.289G>A
c.567G>A (p.Glu189=)
c.485G>A
n.860G>A
1g.11022147G>CCA338364143MASP2,TARDBPc.1443C>G (n.1443C>G)
c.738G>C (p.Glu246Asp)
c.*319G>C (n.*319G>C)
c.*627G>C (n.*627G>C)
c.37G>C
c.216G>C (p.Glu72Asp)
c.118G>C
c.378G>C (p.Glu126Asp)
c.4G>C
c.191G>C
c.479G>C
c.289G>C
c.567G>C (p.Glu189Asp)
c.485G>C
n.860G>C
1g.11022147G>TCA338364144MASP2,TARDBPc.1443C>A (n.1443C>A)
c.738G>T (p.Glu246Asp)
c.*319G>T (n.*319G>T)
c.*627G>T (n.*627G>T)
c.37G>T
c.216G>T (p.Glu72Asp)
c.118G>T
c.378G>T (p.Glu126Asp)
c.4G>T
c.191G>T
c.479G>T
c.289G>T
c.567G>T (p.Glu189Asp)
c.485G>T
n.860G>T
1g.11022148G>ACA338364145MASP2,TARDBPc.1442C>T (n.1442C>T)
c.739G>A (p.Asp247Asn)
c.*320G>A (n.*320G>A)
c.*628G>A (n.*628G>A)
c.38G>A
c.217G>A (p.Asp73Asn)
c.119G>A
c.379G>A (p.Asp127Asn)
c.5G>A
c.192G>A
c.480G>A
c.290G>A
c.568G>A (p.Asp190Asn)
c.486G>A
n.861G>A
1g.11022148G>CCA338364146MASP2,TARDBPc.1442C>G (n.1442C>G)
c.739G>C (p.Asp247His)
c.*320G>C (n.*320G>C)
c.*628G>C (n.*628G>C)
c.38G>C
c.217G>C (p.Asp73His)
c.119G>C
c.379G>C (p.Asp127His)
c.5G>C
c.192G>C
c.480G>C
c.290G>C
c.568G>C (p.Asp190His)
c.486G>C
n.861G>C
1g.11022148G>TCA338364147MASP2,TARDBPc.1442C>A (n.1442C>A)
c.739G>T (p.Asp247Tyr)
c.*320G>T (n.*320G>T)
c.*628G>T (n.*628G>T)
c.38G>T
c.217G>T (p.Asp73Tyr)
c.119G>T
c.379G>T (p.Asp127Tyr)
c.5G>T
c.192G>T
c.480G>T
c.290G>T
c.568G>T (p.Asp190Tyr)
c.486G>T
n.861G>T
1g.11022149A>CCA338364148MASP2,TARDBPc.1441T>G (n.1441T>G)
c.740A>C (p.Asp247Ala)
c.*321A>C (n.*321A>C)
c.*629A>C (n.*629A>C)
c.39A>C
c.218A>C (p.Asp73Ala)
c.120A>C
c.380A>C (p.Asp127Ala)
c.6A>C
c.193A>C
c.481A>C
c.291A>C
c.569A>C (p.Asp190Ala)
c.487A>C
n.862A>C
1g.11022149A>GCA338364149MASP2,TARDBPc.1441T>C (n.1441T>C)
c.740A>G (p.Asp247Gly)
c.*321A>G (n.*321A>G)
c.*629A>G (n.*629A>G)
c.39A>G
c.218A>G (p.Asp73Gly)
c.120A>G
c.380A>G (p.Asp127Gly)
c.6A>G
c.193A>G
c.481A>G
c.291A>G
c.569A>G (p.Asp190Gly)
c.487A>G
n.862A>G
1g.11022149A>TCA338364150MASP2,TARDBPc.1441T>A (n.1441T>A)
c.740A>T (p.Asp247Val)
c.*321A>T (n.*321A>T)
c.*629A>T (n.*629A>T)
c.39A>T
c.218A>T (p.Asp73Val)
c.120A>T
c.380A>T (p.Asp127Val)
c.6A>T
c.193A>T
c.481A>T
c.291A>T
c.569A>T (p.Asp190Val)
c.487A>T
n.862A>T
1g.11022150C>ACA338364152MASP2,TARDBPc.1440G>T (n.1440G>T)
c.741C>A (p.Asp247Glu)
c.*322C>A (n.*322C>A)
c.*630C>A (n.*630C>A)
c.40C>A
c.219C>A (p.Asp73Glu)
c.121C>A
c.381C>A (p.Asp127Glu)
c.7C>A
c.194C>A
c.482C>A
c.292C>A
c.570C>A (p.Asp190Glu)
c.488C>A
n.863C>A
1g.11022150C=CA1153490024MASP2,TARDBPc.1440G= (n.1440G=)
c.741C= (p.Asp247=)
c.*322C= (n.*322C=)
c.*630C= (n.*630C=)
c.40C=
c.219C= (p.Asp73=)
c.121C=
c.381C= (p.Asp127=)
c.7C=
c.194C=
c.482C=
c.292C=
c.570C= (p.Asp190=)
c.488C=
n.863C=
1g.11022150C>GCA338364151MASP2,TARDBPc.1440G>C (n.1440G>C)
c.741C>G (p.Asp247Glu)
c.*322C>G (n.*322C>G)
c.*630C>G (n.*630C>G)
c.40C>G
c.219C>G (p.Asp73Glu)
c.121C>G
c.381C>G (p.Asp127Glu)
c.7C>G
c.194C>G
c.482C>G
c.292C>G
c.570C>G (p.Asp190Glu)
c.488C>G
n.863C>G
1g.11022150C>TCA415908819MASP2,TARDBPc.1440G>A (n.1440G>A)
c.741C>T (p.Asp247=)
c.*322C>T (n.*322C>T)
c.*630C>T (n.*630C>T)
c.40C>T
c.219C>T (p.Asp73=)
c.121C>T
c.381C>T (p.Asp127=)
c.7C>T
c.194C>T
c.482C>T
c.292C>T
c.570C>T (p.Asp190=)
c.488C>T
n.863C>T
 dbSNP gnomAD v3 gnomAD v4
1g.11022151T>ACA338364153MASP2,TARDBPc.1439A>T (n.1439A>T)
c.742T>A (p.Leu248Met)
c.*323T>A (n.*323T>A)
c.*631T>A (n.*631T>A)
c.41T>A
c.220T>A (p.Leu74Met)
c.122T>A
c.382T>A (p.Leu128Met)
c.8T>A
c.195T>A
c.483T>A
c.293T>A
c.571T>A (p.Leu191Met)
c.489T>A
n.864T>A
1g.11022151T>CCA415908822MASP2,TARDBPc.1439A>G (n.1439A>G)
c.742T>C (p.Leu248=)
c.*323T>C (n.*323T>C)
c.*631T>C (n.*631T>C)
c.41T>C
c.220T>C (p.Leu74=)
c.122T>C
c.382T>C (p.Leu128=)
c.8T>C
c.195T>C
c.483T>C
c.293T>C
c.571T>C (p.Leu191=)
c.489T>C
n.864T>C
1g.11022151T>GCA338364154MASP2,TARDBPc.1439A>C (n.1439A>C)
c.742T>G (p.Leu248Val)
c.*323T>G (n.*323T>G)
c.*631T>G (n.*631T>G)
c.41T>G
c.220T>G (p.Leu74Val)
c.122T>G
c.382T>G (p.Leu128Val)
c.8T>G
c.195T>G
c.483T>G
c.293T>G
c.571T>G (p.Leu191Val)
c.489T>G
n.864T>G
1g.11022152T>ACA338364155MASP2,TARDBPc.1438A>T (n.1438A>T)
c.743T>A (p.Leu248Ter)
c.*324T>A (n.*324T>A)
c.*632T>A (n.*632T>A)
c.42T>A
c.221T>A (p.Leu74Ter)
c.123T>A
c.383T>A (p.Leu128Ter)
c.9T>A
c.196T>A
c.484T>A
c.294T>A
c.572T>A (p.Leu191Ter)
c.490T>A
n.865T>A
1g.11022152T>CCA338364156MASP2,TARDBPc.1438A>G (n.1438A>G)
c.743T>C (p.Leu248Ser)
c.*324T>C (n.*324T>C)
c.*632T>C (n.*632T>C)
c.42T>C
c.221T>C (p.Leu74Ser)
c.123T>C
c.383T>C (p.Leu128Ser)
c.9T>C
c.196T>C
c.484T>C
c.294T>C
c.572T>C (p.Leu191Ser)
c.490T>C
n.865T>C
 COSMIC
1g.11022152T>GCA338364157MASP2,TARDBPc.1438A>C (n.1438A>C)
c.743T>G (p.Leu248Trp)
c.*324T>G (n.*324T>G)
c.*632T>G (n.*632T>G)
c.42T>G
c.221T>G (p.Leu74Trp)
c.123T>G
c.383T>G (p.Leu128Trp)
c.9T>G
c.196T>G
c.484T>G
c.294T>G
c.572T>G (p.Leu191Trp)
c.490T>G
n.865T>G
1g.11022153G>ACA415908843MASP2,TARDBPc.1437C>T (n.1437C>T)
c.744G>A (p.Leu248=)
c.*325G>A (n.*325G>A)
c.*633G>A (n.*633G>A)
c.43G>A
c.222G>A (p.Leu74=)
c.124G>A
c.384G>A (p.Leu128=)
c.10G>A
c.197G>A
c.485G>A
c.295G>A
c.573G>A (p.Leu191=)
c.491G>A
n.866G>A
1g.11022153G>CCA338364158MASP2,TARDBPc.1437C>G (n.1437C>G)
c.744G>C (p.Leu248Phe)
c.*325G>C (n.*325G>C)
c.*633G>C (n.*633G>C)
c.43G>C
c.222G>C (p.Leu74Phe)
c.124G>C
c.384G>C (p.Leu128Phe)
c.10G>C
c.197G>C
c.485G>C
c.295G>C
c.573G>C (p.Leu191Phe)
c.491G>C
n.866G>C
1g.11022153G>TCA338364159MASP2,TARDBPc.1437C>A (n.1437C>A)
c.744G>T (p.Leu248Phe)
c.*325G>T (n.*325G>T)
c.*633G>T (n.*633G>T)
c.43G>T
c.222G>T (p.Leu74Phe)
c.124G>T
c.384G>T (p.Leu128Phe)
c.10G>T
c.197G>T
c.485G>T
c.295G>T
c.573G>T (p.Leu191Phe)
c.491G>T
n.866G>T
 gnomAD v4
1g.11022154A>CCA338364160MASP2,TARDBPc.1436T>G (n.1436T>G)
c.745A>C (p.Ile249Leu)
c.*326A>C (n.*326A>C)
c.*634A>C (n.*634A>C)
c.44A>C
c.223A>C (p.Ile75Leu)
c.125A>C
c.385A>C (p.Ile129Leu)
c.11A>C
c.198A>C
c.486A>C
c.296A>C
c.574A>C (p.Ile192Leu)
c.492A>C
n.867A>C
1g.11022154A>GCA338364162MASP2,TARDBPc.1436T>C (n.1436T>C)
c.745A>G (p.Ile249Val)
c.*326A>G (n.*326A>G)
c.*634A>G (n.*634A>G)
c.44A>G
c.223A>G (p.Ile75Val)
c.125A>G
c.385A>G (p.Ile129Val)
c.11A>G
c.198A>G
c.486A>G
c.296A>G
c.574A>G (p.Ile192Val)
c.492A>G
n.867A>G
1g.11022154A>TCA338364161MASP2,TARDBPc.1436T>A (n.1436T>A)
c.745A>T (p.Ile249Phe)
c.*326A>T (n.*326A>T)
c.*634A>T (n.*634A>T)
c.44A>T
c.223A>T (p.Ile75Phe)
c.125A>T
c.385A>T (p.Ile129Phe)
c.11A>T
c.198A>T
c.486A>T
c.296A>T
c.574A>T (p.Ile192Phe)
c.492A>T
n.867A>T
1g.11022155T>ACA338364163MASP2,TARDBPc.1435A>T (n.1435A>T)
c.746T>A (p.Ile249Asn)
c.*327T>A (n.*327T>A)
c.*635T>A (n.*635T>A)
c.45T>A
c.224T>A (p.Ile75Asn)
c.126T>A
c.386T>A (p.Ile129Asn)
c.12T>A
c.199T>A
c.487T>A
c.297T>A
c.575T>A (p.Ile192Asn)
c.493T>A
n.868T>A
1g.11022155T>CCA338364164MASP2,TARDBPc.1435A>G (n.1435A>G)
c.746T>C (p.Ile249Thr)
c.*327T>C (n.*327T>C)
c.*635T>C (n.*635T>C)
c.45T>C
c.224T>C (p.Ile75Thr)
c.126T>C
c.386T>C (p.Ile129Thr)
c.12T>C
c.199T>C
c.487T>C
c.297T>C
c.575T>C (p.Ile192Thr)
c.493T>C
n.868T>C
1g.11022155T>GCA338364165MASP2,TARDBPc.1435A>C (n.1435A>C)
c.746T>G (p.Ile249Ser)
c.*327T>G (n.*327T>G)
c.*635T>G (n.*635T>G)
c.45T>G
c.224T>G (p.Ile75Ser)
c.126T>G
c.386T>G (p.Ile129Ser)
c.12T>G
c.199T>G
c.487T>G
c.297T>G
c.575T>G (p.Ile192Ser)
c.493T>G
n.868T>G
1g.11022156C>ACA415908859MASP2,TARDBPc.1434G>T (n.1434G>T)
c.747C>A (p.Ile249=)
c.*328C>A (n.*328C>A)
c.*636C>A (n.*636C>A)
c.46C>A
c.225C>A (p.Ile75=)
c.127C>A
c.387C>A (p.Ile129=)
c.13C>A
c.200C>A
c.488C>A
c.298C>A
c.576C>A (p.Ile192=)
c.494C>A
n.869C>A
1g.11022156C>GCA338364166MASP2,TARDBPc.1434G>C (n.1434G>C)
c.747C>G (p.Ile249Met)
c.*328C>G (n.*328C>G)
c.*636C>G (n.*636C>G)
c.46C>G
c.225C>G (p.Ile75Met)
c.127C>G
c.387C>G (p.Ile129Met)
c.13C>G
c.200C>G
c.488C>G
c.298C>G
c.576C>G (p.Ile192Met)
c.494C>G
n.869C>G
1g.11022156C>TCA415908857MASP2,TARDBPc.1434G>A (n.1434G>A)
c.747C>T (p.Ile249=)
c.*328C>T (n.*328C>T)
c.*636C>T (n.*636C>T)
c.46C>T
c.225C>T (p.Ile75=)
c.127C>T
c.387C>T (p.Ile129=)
c.13C>T
c.200C>T
c.488C>T
c.298C>T
c.576C>T (p.Ile192=)
c.494C>T
n.869C>T
1g.11022157A>CCA338364167MASP2,TARDBPc.1433T>G (n.1433T>G)
c.748A>C (p.Ile250Leu)
c.*329A>C (n.*329A>C)
c.*637A>C (n.*637A>C)
c.47A>C
c.226A>C (p.Ile76Leu)
c.128A>C
c.388A>C (p.Ile130Leu)
c.14A>C
c.201A>C
c.489A>C
c.299A>C
c.577A>C (p.Ile193Leu)
c.495A>C
n.870A>C
1g.11022157A>GCA338364169MASP2,TARDBPc.1433T>C (n.1433T>C)
c.748A>G (p.Ile250Val)
c.*329A>G (n.*329A>G)
c.*637A>G (n.*637A>G)
c.47A>G
c.226A>G (p.Ile76Val)
c.128A>G
c.388A>G (p.Ile130Val)
c.14A>G
c.201A>G
c.489A>G
c.299A>G
c.577A>G (p.Ile193Val)
c.495A>G
n.870A>G
 gnomAD v4
1g.11022157A>TCA338364168MASP2,TARDBPc.1433T>A (n.1433T>A)
c.748A>T (p.Ile250Phe)
c.*329A>T (n.*329A>T)
c.*637A>T (n.*637A>T)
c.47A>T
c.226A>T (p.Ile76Phe)
c.128A>T
c.388A>T (p.Ile130Phe)
c.14A>T
c.201A>T
c.489A>T
c.299A>T
c.577A>T (p.Ile193Phe)
c.495A>T
n.870A>T
1g.11022158T>ACA338364170MASP2,TARDBPc.1432A>T (n.1432A>T)
c.749T>A (p.Ile250Asn)
c.*330T>A (n.*330T>A)
c.*638T>A (n.*638T>A)
c.48T>A
c.227T>A (p.Ile76Asn)
c.129T>A
c.389T>A (p.Ile130Asn)
c.15T>A
c.202T>A
c.490T>A
c.300T>A
c.578T>A (p.Ile193Asn)
c.496T>A
n.871T>A
1g.11022158T>CCA338364171MASP2,TARDBPc.1432A>G (n.1432A>G)
c.749T>C (p.Ile250Thr)
c.*330T>C (n.*330T>C)
c.*638T>C (n.*638T>C)
c.48T>C
c.227T>C (p.Ile76Thr)
c.129T>C
c.389T>C (p.Ile130Thr)
c.15T>C
c.202T>C
c.490T>C
c.300T>C
c.578T>C (p.Ile193Thr)
c.496T>C
n.871T>C
1g.11022158T>GCA338364172MASP2,TARDBPc.1432A>C (n.1432A>C)
c.749T>G (p.Ile250Ser)
c.*330T>G (n.*330T>G)
c.*638T>G (n.*638T>G)
c.48T>G
c.227T>G (p.Ile76Ser)
c.129T>G
c.389T>G (p.Ile130Ser)
c.15T>G
c.202T>G
c.490T>G
c.300T>G
c.578T>G (p.Ile193Ser)
c.496T>G
n.871T>G
1g.11022159T>ACA415908877MASP2,TARDBPc.1431A>T (n.1431A>T)
c.750T>A (p.Ile250=)
c.*331T>A (n.*331T>A)
c.*639T>A (n.*639T>A)
c.49T>A
c.228T>A (p.Ile76=)
c.130T>A
c.390T>A (p.Ile130=)
c.16T>A
c.203T>A
c.491T>A
c.301T>A
c.579T>A (p.Ile193=)
c.497T>A
n.872T>A
1g.11022159T>CCA415908873MASP2,TARDBPc.1431A>G (n.1431A>G)
c.750T>C (p.Ile250=)
c.*331T>C (n.*331T>C)
c.*639T>C (n.*639T>C)
c.49T>C
c.228T>C (p.Ile76=)
c.130T>C
c.390T>C (p.Ile130=)
c.16T>C
c.203T>C
c.491T>C
c.301T>C
c.579T>C (p.Ile193=)
c.497T>C
n.872T>C
1g.11022159T>GCA338364173MASP2,TARDBPc.1431A>C (n.1431A>C)
c.750T>G (p.Ile250Met)
c.*331T>G (n.*331T>G)
c.*639T>G (n.*639T>G)
c.49T>G
c.228T>G (p.Ile76Met)
c.130T>G
c.390T>G (p.Ile130Met)
c.16T>G
c.203T>G
c.491T>G
c.301T>G
c.579T>G (p.Ile193Met)
c.497T>G
n.872T>G
1g.11022160A>CCA338364174MASP2,TARDBPc.1430T>G (n.1430T>G)
c.751A>C (p.Lys251Gln)
c.*332A>C (n.*332A>C)
c.*640A>C (n.*640A>C)
c.50A>C
c.229A>C (p.Lys77Gln)
c.131A>C
c.391A>C (p.Lys131Gln)
c.17A>C
c.204A>C
c.492A>C
c.302A>C
c.580A>C (p.Lys194Gln)
c.498A>C
n.873A>C
1g.11022160A>GCA338364175MASP2,TARDBPc.1430T>C (n.1430T>C)
c.751A>G (p.Lys251Glu)
c.*332A>G (n.*332A>G)
c.*640A>G (n.*640A>G)
c.50A>G
c.229A>G (p.Lys77Glu)
c.131A>G
c.391A>G (p.Lys131Glu)
c.17A>G
c.204A>G
c.492A>G
c.302A>G
c.580A>G (p.Lys194Glu)
c.498A>G
n.873A>G
1g.11022160A>TCA338364176MASP2,TARDBPc.1430T>A (n.1430T>A)
c.751A>T (p.Lys251Ter)
c.*332A>T (n.*332A>T)
c.*640A>T (n.*640A>T)
c.50A>T
c.229A>T (p.Lys77Ter)
c.131A>T
c.391A>T (p.Lys131Ter)
c.17A>T
c.204A>T
c.492A>T
c.302A>T
c.580A>T (p.Lys194Ter)
c.498A>T
n.873A>T
1g.11022161A>CCA338364177MASP2,TARDBPc.1429T>G (n.1429T>G)
c.752A>C (p.Lys251Thr)
c.*333A>C (n.*333A>C)
c.*641A>C (n.*641A>C)
c.51A>C
c.230A>C (p.Lys77Thr)
c.132A>C
c.392A>C (p.Lys131Thr)
c.18A>C
c.205A>C
c.493A>C
c.303A>C
c.581A>C (p.Lys194Thr)
c.499A>C
n.874A>C
1g.11022161A>GCA338364178MASP2,TARDBPc.1429T>C (n.1429T>C)
c.752A>G (p.Lys251Arg)
c.*333A>G (n.*333A>G)
c.*641A>G (n.*641A>G)
c.51A>G
c.230A>G (p.Lys77Arg)
c.132A>G
c.392A>G (p.Lys131Arg)
c.18A>G
c.205A>G
c.493A>G
c.303A>G
c.581A>G (p.Lys194Arg)
c.499A>G
n.874A>G
1g.11022161A>TCA338364179MASP2,TARDBPc.1429T>A (n.1429T>A)
c.752A>T (p.Lys251Ile)
c.*333A>T (n.*333A>T)
c.*641A>T (n.*641A>T)
c.51A>T
c.230A>T (p.Lys77Ile)
c.132A>T
c.392A>T (p.Lys131Ile)
c.18A>T
c.205A>T
c.493A>T
c.303A>T
c.581A>T (p.Lys194Ile)
c.499A>T
n.874A>T
1g.11022162A>CCA338364180MASP2,TARDBPc.1428T>G (n.1428T>G)
c.753A>C (p.Lys251Asn)
c.*334A>C (n.*334A>C)
c.*642A>C (n.*642A>C)
c.52A>C
c.231A>C (p.Lys77Asn)
c.133A>C
c.393A>C (p.Lys131Asn)
c.19A>C
c.206A>C
c.494A>C
c.304A>C
c.582A>C (p.Lys194Asn)
c.500A>C
n.875A>C
1g.11022162A>GCA415908892MASP2,TARDBPc.1428T>C (n.1428T>C)
c.753A>G (p.Lys251=)
c.*334A>G (n.*334A>G)
c.*642A>G (n.*642A>G)
c.52A>G
c.231A>G (p.Lys77=)
c.133A>G
c.393A>G (p.Lys131=)
c.19A>G
c.206A>G
c.494A>G
c.304A>G
c.582A>G (p.Lys194=)
c.500A>G
n.875A>G
1g.11022162A>TCA338364181MASP2,TARDBPc.1428T>A (n.1428T>A)
c.753A>T (p.Lys251Asn)
c.*334A>T (n.*334A>T)
c.*642A>T (n.*642A>T)
c.52A>T
c.231A>T (p.Lys77Asn)
c.133A>T
c.393A>T (p.Lys131Asn)
c.19A>T
c.206A>T
c.494A>T
c.304A>T
c.582A>T (p.Lys194Asn)
c.500A>T
n.875A>T
1g.11022163G>ACA338364183MASP2,TARDBPc.1427C>T (n.1427C>T)
c.754G>A (p.Gly252Arg)
c.*335G>A (n.*335G>A)
c.*643G>A (n.*643G>A)
c.53G>A
c.232G>A (p.Gly78Arg)
c.134G>A
c.394G>A (p.Gly132Arg)
c.20G>A
c.207G>A
c.495G>A
c.305G>A
c.583G>A (p.Gly195Arg)
c.501G>A
n.876G>A
1g.11022163G>CCA338364184MASP2,TARDBPc.1427C>G (n.1427C>G)
c.754G>C (p.Gly252Arg)
c.*335G>C (n.*335G>C)
c.*643G>C (n.*643G>C)
c.53G>C
c.232G>C (p.Gly78Arg)
c.134G>C
c.394G>C (p.Gly132Arg)
c.20G>C
c.207G>C
c.495G>C
c.305G>C
c.583G>C (p.Gly195Arg)
c.501G>C
n.876G>C
1g.11022163G>TCA338364182MASP2,TARDBPc.1427C>A (n.1427C>A)
c.754G>T (p.Gly252Ter)
c.*335G>T (n.*335G>T)
c.*643G>T (n.*643G>T)
c.53G>T
c.232G>T (p.Gly78Ter)
c.134G>T
c.394G>T (p.Gly132Ter)
c.20G>T
c.207G>T
c.495G>T
c.305G>T
c.583G>T (p.Gly195Ter)
c.501G>T
n.876G>T
1g.11022164G>ACA338364185MASP2,TARDBPc.1426C>T (n.1426C>T)
c.755G>A (p.Gly252Glu)
c.*336G>A (n.*336G>A)
c.*644G>A (n.*644G>A)
c.54G>A
c.233G>A (p.Gly78Glu)
c.135G>A
c.395G>A (p.Gly132Glu)
c.21G>A
c.208G>A
c.496G>A
c.306G>A
c.584G>A (p.Gly195Glu)
c.502G>A
n.877G>A
1g.11022164G>CCA338364186MASP2,TARDBPc.1426C>G (n.1426C>G)
c.755G>C (p.Gly252Ala)
c.*336G>C (n.*336G>C)
c.*644G>C (n.*644G>C)
c.54G>C
c.233G>C (p.Gly78Ala)
c.135G>C
c.395G>C (p.Gly132Ala)
c.21G>C
c.208G>C
c.496G>C
c.306G>C
c.584G>C (p.Gly195Ala)
c.502G>C
n.877G>C
1g.11022164G>TCA338364187MASP2,TARDBPc.1426C>A (n.1426C>A)
c.755G>T (p.Gly252Val)
c.*336G>T (n.*336G>T)
c.*644G>T (n.*644G>T)
c.54G>T
c.233G>T (p.Gly78Val)
c.135G>T
c.395G>T (p.Gly132Val)
c.21G>T
c.208G>T
c.496G>T
c.306G>T
c.584G>T (p.Gly195Val)
c.502G>T
n.877G>T
1g.11022165A=CA1153490027MASP2,TARDBPc.1425T= (n.1425T=)
c.756A= (p.Gly252=)
c.*337A= (n.*337A=)
c.*645A= (n.*645A=)
c.55A=
c.234A= (p.Gly78=)
c.136A=
c.396A= (p.Gly132=)
c.22A=
c.209A=
c.497A=
c.307A=
c.585A= (p.Gly195=)
c.503A=
n.878A=
1g.11022165A>CCA415908903MASP2,TARDBPc.1425T>G (n.1425T>G)
c.756A>C (p.Gly252=)
c.*337A>C (n.*337A>C)
c.*645A>C (n.*645A>C)
c.55A>C
c.234A>C (p.Gly78=)
c.136A>C
c.396A>C (p.Gly132=)
c.22A>C
c.209A>C
c.497A>C
c.307A>C
c.585A>C (p.Gly195=)
c.503A>C
n.878A>C
1g.11022165A>GCA415908905MASP2,TARDBPc.1425T>C (n.1425T>C)
c.756A>G (p.Gly252=)
c.*337A>G (n.*337A>G)
c.*645A>G (n.*645A>G)
c.55A>G
c.234A>G (p.Gly78=)
c.136A>G
c.396A>G (p.Gly132=)
c.22A>G
c.209A>G
c.497A>G
c.307A>G
c.585A>G (p.Gly195=)
c.503A>G
n.878A>G
 dbSNP gnomAD v2
1g.11022165A>TCA415908907MASP2,TARDBPc.1425T>A (n.1425T>A)
c.756A>T (p.Gly252=)
c.*337A>T (n.*337A>T)
c.*645A>T (n.*645A>T)
c.55A>T
c.234A>T (p.Gly78=)
c.136A>T
c.396A>T (p.Gly132=)
c.22A>T
c.209A>T
c.497A>T
c.307A>T
c.585A>T (p.Gly195=)
c.503A>T
n.878A>T
1g.11022166A>CCA338364188MASP2,TARDBPc.1424T>G (n.1424T>G)
c.757A>C (p.Ile253Leu)
c.*338A>C (n.*338A>C)
c.*646A>C (n.*646A>C)
c.56A>C
c.235A>C (p.Ile79Leu)
c.137A>C
c.397A>C (p.Ile133Leu)
c.23A>C
c.210A>C
c.498A>C
c.308A>C
c.586A>C (p.Ile196Leu)
c.504A>C
n.879A>C
1g.11022166A>GCA338364189MASP2,TARDBPc.1424T>C (n.1424T>C)
c.757A>G (p.Ile253Val)
c.*338A>G (n.*338A>G)
c.*646A>G (n.*646A>G)
c.56A>G
c.235A>G (p.Ile79Val)
c.137A>G
c.397A>G (p.Ile133Val)
c.23A>G
c.210A>G
c.498A>G
c.308A>G
c.586A>G (p.Ile196Val)
c.504A>G
n.879A>G
1g.11022166A>TCA338364190MASP2,TARDBPc.1424T>A (n.1424T>A)
c.757A>T (p.Ile253Phe)
c.*338A>T (n.*338A>T)
c.*646A>T (n.*646A>T)
c.56A>T
c.235A>T (p.Ile79Phe)
c.137A>T
c.397A>T (p.Ile133Phe)
c.23A>T
c.210A>T
c.498A>T
c.308A>T
c.586A>T (p.Ile196Phe)
c.504A>T
n.879A>T
1g.11022167T>ACA338364191MASP2,TARDBPc.1423A>T (n.1423A>T)
c.758T>A (p.Ile253Asn)
c.*339T>A (n.*339T>A)
c.*647T>A (n.*647T>A)
c.57T>A
c.236T>A (p.Ile79Asn)
c.138T>A
c.398T>A (p.Ile133Asn)
c.24T>A
c.211T>A
c.499T>A
c.309T>A
c.587T>A (p.Ile196Asn)
c.505T>A
n.880T>A
1g.11022167T>CCA338364193MASP2,TARDBPc.1423A>G (n.1423A>G)
c.758T>C (p.Ile253Thr)
c.*339T>C (n.*339T>C)
c.*647T>C (n.*647T>C)
c.57T>C
c.236T>C (p.Ile79Thr)
c.138T>C
c.398T>C (p.Ile133Thr)
c.24T>C
c.211T>C
c.499T>C
c.309T>C
c.587T>C (p.Ile196Thr)
c.505T>C
n.880T>C
1g.11022167T>GCA338364192MASP2,TARDBPc.1423A>C (n.1423A>C)
c.758T>G (p.Ile253Ser)
c.*339T>G (n.*339T>G)
c.*647T>G (n.*647T>G)
c.57T>G
c.236T>G (p.Ile79Ser)
c.138T>G
c.398T>G (p.Ile133Ser)
c.24T>G
c.211T>G
c.499T>G
c.309T>G
c.587T>G (p.Ile196Ser)
c.505T>G
n.880T>G
1g.11022168C>ACA415908928MASP2,TARDBPc.1422G>T (n.1422G>T)
c.759C>A (p.Ile253=)
c.*340C>A (n.*340C>A)
c.*648C>A (n.*648C>A)
c.58C>A
c.237C>A (p.Ile79=)
c.139C>A
c.399C>A (p.Ile133=)
c.25C>A
c.212C>A
c.500C>A
c.310C>A
c.588C>A (p.Ile196=)
c.506C>A
n.881C>A
1g.11022168C>GCA338364194MASP2,TARDBPc.1422G>C (n.1422G>C)
c.759C>G (p.Ile253Met)
c.*340C>G (n.*340C>G)
c.*648C>G (n.*648C>G)
c.58C>G
c.237C>G (p.Ile79Met)
c.139C>G
c.399C>G (p.Ile133Met)
c.25C>G
c.212C>G
c.500C>G
c.310C>G
c.588C>G (p.Ile196Met)
c.506C>G
n.881C>G
1g.11022168C>TCA415908933MASP2,TARDBPc.1422G>A (n.1422G>A)
c.759C>T (p.Ile253=)
c.*340C>T (n.*340C>T)
c.*648C>T (n.*648C>T)
c.58C>T
c.237C>T (p.Ile79=)
c.139C>T
c.399C>T (p.Ile133=)
c.25C>T
c.212C>T
c.500C>T
c.310C>T
c.588C>T (p.Ile196=)
c.506C>T
n.881C>T
1g.11022169A>CCA338364195MASP2,TARDBPc.1421T>G (n.1421T>G)
c.760A>C (p.Ser254Arg)
c.*341A>C (n.*341A>C)
c.*649A>C (n.*649A>C)
c.59A>C
c.238A>C (p.Ser80Arg)
c.140A>C
c.400A>C (p.Ser134Arg)
c.26A>C
c.213A>C
c.501A>C
c.311A>C
c.589A>C (p.Ser197Arg)
c.507A>C
n.882A>C
1g.11022169A>GCA338364196MASP2,TARDBPc.1421T>C (n.1421T>C)
c.760A>G (p.Ser254Gly)
c.*341A>G (n.*341A>G)
c.*649A>G (n.*649A>G)
c.59A>G
c.238A>G (p.Ser80Gly)
c.140A>G
c.400A>G (p.Ser134Gly)
c.26A>G
c.213A>G
c.501A>G
c.311A>G
c.589A>G (p.Ser197Gly)
c.507A>G
n.882A>G
1g.11022169A>TCA338364197MASP2,TARDBPc.1421T>A (n.1421T>A)
c.760A>T (p.Ser254Cys)
c.*341A>T (n.*341A>T)
c.*649A>T (n.*649A>T)
c.59A>T
c.238A>T (p.Ser80Cys)
c.140A>T
c.400A>T (p.Ser134Cys)
c.26A>T
c.213A>T
c.501A>T
c.311A>T
c.589A>T (p.Ser197Cys)
c.507A>T
n.882A>T
1g.11022170G>ACA338364198MASP2,TARDBPc.1420C>T (n.1420C>T)
c.761G>A (p.Ser254Asn)
c.*342G>A (n.*342G>A)
c.*650G>A (n.*650G>A)
c.60G>A
c.239G>A (p.Ser80Asn)
c.141G>A
c.401G>A (p.Ser134Asn)
c.27G>A
c.214G>A
c.502G>A
c.312G>A
c.590G>A (p.Ser197Asn)
c.508G>A
n.883G>A
1g.11022170G>CCA338364200MASP2,TARDBPc.1420C>G (n.1420C>G)
c.761G>C (p.Ser254Thr)
c.*342G>C (n.*342G>C)
c.*650G>C (n.*650G>C)
c.60G>C
c.239G>C (p.Ser80Thr)
c.141G>C
c.401G>C (p.Ser134Thr)
c.27G>C
c.214G>C
c.502G>C
c.312G>C
c.590G>C (p.Ser197Thr)
c.508G>C
n.883G>C
1g.11022170G>TCA338364199MASP2,TARDBPc.1420C>A (n.1420C>A)
c.761G>T (p.Ser254Ile)
c.*342G>T (n.*342G>T)
c.*650G>T (n.*650G>T)
c.60G>T
c.239G>T (p.Ser80Ile)
c.141G>T
c.401G>T (p.Ser134Ile)
c.27G>T
c.214G>T
c.502G>T
c.312G>T
c.590G>T (p.Ser197Ile)
c.508G>T
n.883G>T
1g.11022171C>ACA338364201MASP2,TARDBPc.1419G>T (n.1419G>T)
c.762C>A (p.Ser254Arg)
c.*343C>A (n.*343C>A)
c.*651C>A (n.*651C>A)
c.61C>A
c.240C>A (p.Ser80Arg)
c.142C>A
c.402C>A (p.Ser134Arg)
c.28C>A
c.215C>A
c.503C>A
c.313C>A
c.591C>A (p.Ser197Arg)
c.509C>A
n.884C>A
1g.11022171C=CA1153490032MASP2,TARDBPc.1419G= (n.1419G=)
c.762C= (p.Ser254=)
c.*343C= (n.*343C=)
c.*651C= (n.*651C=)
c.61C=
c.240C= (p.Ser80=)
c.142C=
c.402C= (p.Ser134=)
c.28C=
c.215C=
c.503C=
c.313C=
c.591C= (p.Ser197=)
c.509C=
n.884C=
1g.11022171C>GCA338364202MASP2,TARDBPc.1419G>C (n.1419G>C)
c.762C>G (p.Ser254Arg)
c.*343C>G (n.*343C>G)
c.*651C>G (n.*651C>G)
c.61C>G
c.240C>G (p.Ser80Arg)
c.142C>G
c.402C>G (p.Ser134Arg)
c.28C>G
c.215C>G
c.503C>G
c.313C>G
c.591C>G (p.Ser197Arg)
c.509C>G
n.884C>G
1g.11022171C>TCA586449MASP2,TARDBPc.1419G>A (n.1419G>A)
c.762C>T (p.Ser254=)
c.*343C>T (n.*343C>T)
c.*651C>T (n.*651C>T)
c.61C>T
c.240C>T (p.Ser80=)
c.142C>T
c.402C>T (p.Ser134=)
c.28C>T
c.215C>T
c.503C>T
c.313C>T
c.591C>T (p.Ser197=)
c.509C>T
n.884C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.11022172G>ACA338364203MASP2,TARDBPc.1418C>T (n.1418C>T)
c.763G>A (p.Val255Ile)
c.*344G>A (n.*344G>A)
c.*652G>A (n.*652G>A)
c.62G>A
c.241G>A (p.Val81Ile)
c.143G>A
c.403G>A (p.Val135Ile)
c.29G>A
c.216G>A
c.504G>A
c.314G>A
c.592G>A (p.Val198Ile)
c.510G>A
n.885G>A
 gnomAD v4
1g.11022172G>CCA338364204MASP2,TARDBPc.1418C>G (n.1418C>G)
c.763G>C (p.Val255Leu)
c.*344G>C (n.*344G>C)
c.*652G>C (n.*652G>C)
c.62G>C
c.241G>C (p.Val81Leu)
c.143G>C
c.403G>C (p.Val135Leu)
c.29G>C
c.216G>C
c.504G>C
c.314G>C
c.592G>C (p.Val198Leu)
c.510G>C
n.885G>C
1g.11022172G>TCA338364205MASP2,TARDBPc.1418C>A (n.1418C>A)
c.763G>T (p.Val255Phe)
c.*344G>T (n.*344G>T)
c.*652G>T (n.*652G>T)
c.62G>T
c.241G>T (p.Val81Phe)
c.143G>T
c.403G>T (p.Val135Phe)
c.29G>T
c.216G>T
c.504G>T
c.314G>T
c.592G>T (p.Val198Phe)
c.510G>T
n.885G>T
1g.11022173T>ACA338364206MASP2,TARDBPc.1417A>T (n.1417A>T)
c.764T>A (p.Val255Asp)
c.*345T>A (n.*345T>A)
c.*653T>A (n.*653T>A)
c.63T>A
c.242T>A (p.Val81Asp)
c.144T>A
c.404T>A (p.Val135Asp)
c.30T>A
c.217T>A
c.505T>A
c.315T>A
c.593T>A (p.Val198Asp)
c.511T>A
n.886T>A
1g.11022173T>CCA338364207MASP2,TARDBPc.1417A>G (n.1417A>G)
c.764T>C (p.Val255Ala)
c.*345T>C (n.*345T>C)
c.*653T>C (n.*653T>C)
c.63T>C
c.242T>C (p.Val81Ala)
c.144T>C
c.404T>C (p.Val135Ala)
c.30T>C
c.217T>C
c.505T>C
c.315T>C
c.593T>C (p.Val198Ala)
c.511T>C
n.886T>C
1g.11022173T>GCA338364208MASP2,TARDBPc.1417A>C (n.1417A>C)
c.764T>G (p.Val255Gly)
c.*345T>G (n.*345T>G)
c.*653T>G (n.*653T>G)
c.63T>G
c.242T>G (p.Val81Gly)
c.144T>G
c.404T>G (p.Val135Gly)
c.30T>G
c.217T>G
c.505T>G
c.315T>G
c.593T>G (p.Val198Gly)
c.511T>G
n.886T>G
1g.11022174T>ACA415908997MASP2,TARDBPc.1416A>T (p.Ter472Cys)
c.765T>A (p.Val255=)
c.*346T>A (n.*346T>A)
c.*654T>A (n.*654T>A)
c.64T>A
c.243T>A (p.Val81=)
c.145T>A
c.405T>A (p.Val135=)
c.31T>A
c.218T>A
c.506T>A
c.316T>A
c.594T>A (p.Val198=)
c.512T>A
n.887T>A
1g.11022174T>CCA415909001MASP2,TARDBPc.1416A>G (p.Ter472Trp)
c.765T>C (p.Val255=)
c.*346T>C (n.*346T>C)
c.*654T>C (n.*654T>C)
c.64T>C
c.243T>C (p.Val81=)
c.145T>C
c.405T>C (p.Val135=)
c.31T>C
c.218T>C
c.506T>C
c.316T>C
c.594T>C (p.Val198=)
c.512T>C
n.887T>C
1g.11022174T>GCA415909004MASP2,TARDBPc.1416A>C (p.Ter472Cys)
c.765T>G (p.Val255=)
c.*346T>G (n.*346T>G)
c.*654T>G (n.*654T>G)
c.64T>G
c.243T>G (p.Val81=)
c.145T>G
c.405T>G (p.Val135=)
c.31T>G
c.218T>G
c.506T>G
c.316T>G
c.594T>G (p.Val198=)
c.512T>G
n.887T>G
1g.11022175C>ACA338364209MASP2,TARDBPc.1415G>T (p.Ter472Leu)
c.766C>A (p.His256Asn)
c.*347C>A (n.*347C>A)
c.*655C>A (n.*655C>A)
c.65C>A
c.244C>A (p.His82Asn)
c.146C>A
c.406C>A (p.His136Asn)
c.32C>A
c.219C>A
c.507C>A
c.317C>A
c.595C>A (p.His199Asn)
c.513C>A
n.888C>A
 gnomAD v4
1g.11022175C>GCA338364210MASP2,TARDBPc.1415G>C (p.Ter472Ser)
c.766C>G (p.His256Asp)
c.*347C>G (n.*347C>G)
c.*655C>G (n.*655C>G)
c.65C>G
c.244C>G (p.His82Asp)
c.146C>G
c.406C>G (p.His136Asp)
c.32C>G
c.219C>G
c.507C>G
c.317C>G
c.595C>G (p.His199Asp)
c.513C>G
n.888C>G
1g.11022175C>TCA338364211MASP2,TARDBPc.1415G>A (p.Ter472=)
c.766C>T (p.His256Tyr)
c.*347C>T (n.*347C>T)
c.*655C>T (n.*655C>T)
c.65C>T
c.244C>T (p.His82Tyr)
c.146C>T
c.406C>T (p.His136Tyr)
c.32C>T
c.219C>T
c.507C>T
c.317C>T
c.595C>T (p.His199Tyr)
c.513C>T
n.888C>T
1g.11022176A>CCA338364212MASP2,TARDBPc.1414T>G (p.Ter472Gly)
c.767A>C (p.His256Pro)
c.*348A>C (n.*348A>C)
c.*656A>C (n.*656A>C)
c.66A>C
c.245A>C (p.His82Pro)
c.147A>C
c.407A>C (p.His136Pro)
c.33A>C
c.220A>C
c.508A>C
c.318A>C
c.596A>C (p.His199Pro)
c.514A>C
n.889A>C
1g.11022176A>GCA338364213MASP2,TARDBPc.1414T>C (p.Ter472Arg)
c.767A>G (p.His256Arg)
c.*348A>G (n.*348A>G)
c.*656A>G (n.*656A>G)
c.66A>G
c.245A>G (p.His82Arg)
c.147A>G
c.407A>G (p.His136Arg)
c.33A>G
c.220A>G
c.508A>G
c.318A>G
c.596A>G (p.His199Arg)
c.514A>G
n.889A>G
 gnomAD v4
1g.11022176A>TCA338364214MASP2,TARDBPc.1414T>A (p.Ter472Arg)
c.767A>T (p.His256Leu)
c.*348A>T (n.*348A>T)
c.*656A>T (n.*656A>T)
c.66A>T
c.245A>T (p.His82Leu)
c.147A>T
c.407A>T (p.His136Leu)
c.33A>T
c.220A>T
c.508A>T
c.318A>T
c.596A>T (p.His199Leu)
c.514A>T
n.889A>T
1g.11022177T>ACA338364216MASP2,TARDBPc.1413A>T (p.Ile471=)
c.768T>A (p.His256Gln)
c.*349T>A (n.*349T>A)
c.67T>A
c.246T>A (p.His82Gln)
c.148T>A
c.408T>A (p.His136Gln)
c.34T>A
c.221T>A
c.509T>A
c.319T>A
c.597T>A (p.His199Gln)
c.515T>A
n.890T>A
1g.11022177T>CCA415909029MASP2,TARDBPc.1413A>G (p.Ile471Met)
c.768T>C (p.His256=)
c.*349T>C (n.*349T>C)
c.67T>C
c.246T>C (p.His82=)
c.148T>C
c.408T>C (p.His136=)
c.34T>C
c.221T>C
c.509T>C
c.319T>C
c.597T>C (p.His199=)
c.515T>C
n.890T>C
1g.11022177T>GCA338364215MASP2,TARDBPc.1413A>C (p.Ile471=)
c.768T>G (p.His256Gln)
c.*349T>G (n.*349T>G)
c.67T>G
c.246T>G (p.His82Gln)
c.148T>G
c.408T>G (p.His136Gln)
c.34T>G
c.221T>G
c.509T>G
c.319T>G
c.597T>G (p.His199Gln)
c.515T>G
n.890T>G
1g.11022178A=CA1153490034MASP2,TARDBPc.1412T= (p.Ile471=)
c.769A= (p.Ile257=)
c.768+1A= (n.768+1A=)
c.*350A= (n.*350A=)
c.68A=
c.247A= (p.Ile83=)
c.149A=
c.409A= (p.Ile137=)
c.35A=
c.221+1A=
c.510A=
c.320A=
c.598A= (p.Ile200=)
c.516A=
n.891A=
1g.11022178A>CCA338364217MASP2,TARDBPc.1412T>G (p.Ile471Arg)
c.769A>C (p.Ile257Leu)
c.768+1A>C (n.768+1A>C)
c.*350A>C (n.*350A>C)
c.68A>C
c.247A>C (p.Ile83Leu)
c.149A>C
c.409A>C (p.Ile137Leu)
c.35A>C
c.221+1A>C
c.510A>C
c.320A>C
c.598A>C (p.Ile200Leu)
c.516A>C
n.891A>C
1g.11022178A>GCA338364218MASP2,TARDBPc.1412T>C (p.Ile471Thr)
c.769A>G (p.Ile257Val)
c.768+1A>G (n.768+1A>G)
c.*350A>G (n.*350A>G)
c.68A>G
c.247A>G (p.Ile83Val)
c.149A>G
c.409A>G (p.Ile137Val)
c.35A>G
c.221+1A>G
c.510A>G
c.320A>G
c.598A>G (p.Ile200Val)
c.516A>G
n.891A>G
 dbSNP gnomAD v2 gnomAD v4
1g.11022178A>TCA338364219MASP2,TARDBPc.1412T>A (p.Ile471Lys)
c.769A>T (p.Ile257Leu)
c.768+1A>T (n.768+1A>T)
c.*350A>T (n.*350A>T)
c.68A>T
c.247A>T (p.Ile83Leu)
c.149A>T
c.409A>T (p.Ile137Leu)
c.35A>T
c.221+1A>T
c.510A>T
c.320A>T
c.598A>T (p.Ile200Leu)
c.516A>T
n.891A>T
1g.11022179T>ACA338364220MASP2,TARDBPc.1411A>T (p.Ile471Leu)
c.770T>A (p.Ile257Lys)
c.768+2T>A (n.768+2T>A)
c.*351T>A (n.*351T>A)
c.69T>A
c.248T>A (p.Ile83Lys)
c.150T>A
c.410T>A (p.Ile137Lys)
c.36T>A
c.221+2T>A
c.511T>A
c.321T>A
c.599T>A (p.Ile200Lys)
c.517T>A
n.892T>A
1g.11022179T>CCA338364221MASP2,TARDBPc.1411A>G (p.Ile471Val)
c.770T>C (p.Ile257Thr)
c.768+2T>C (n.768+2T>C)
c.*351T>C (n.*351T>C)
c.69T>C
c.248T>C (p.Ile83Thr)
c.150T>C
c.410T>C (p.Ile137Thr)
c.36T>C
c.221+2T>C
c.511T>C
c.321T>C
c.599T>C (p.Ile200Thr)
c.517T>C
n.892T>C
1g.11022179T>GCA338364222MASP2,TARDBPc.1411A>C (p.Ile471Leu)
c.770T>G (p.Ile257Arg)
c.768+2T>G (n.768+2T>G)
c.*351T>G (n.*351T>G)
c.69T>G
c.248T>G (p.Ile83Arg)
c.150T>G
c.410T>G (p.Ile137Arg)
c.36T>G
c.221+2T>G
c.511T>G
c.321T>G
c.599T>G (p.Ile200Arg)
c.517T>G
n.892T>G
1g.11022180A>CCA415909068MASP2,TARDBPc.1410T>G (p.Asp470Glu)
c.771A>C (p.Ile257=)
c.768+3A>C (n.768+3A>C)
c.*352A>C (n.*352A>C)
c.70A>C
c.249A>C (p.Ile83=)
c.151A>C
c.411A>C (p.Ile137=)
c.37A>C
c.221+3A>C
c.512A>C
c.322A>C
c.600A>C (p.Ile200=)
c.518A>C
n.893A>C
1g.11022180A>GCA338364223MASP2,TARDBPc.1410T>C (p.Asp470=)
c.771A>G (p.Ile257Met)
c.768+3A>G (n.768+3A>G)
c.*352A>G (n.*352A>G)
c.70A>G
c.249A>G (p.Ile83Met)
c.151A>G
c.411A>G (p.Ile137Met)
c.37A>G
c.221+3A>G
c.512A>G
c.322A>G
c.600A>G (p.Ile200Met)
c.518A>G
n.893A>G
1g.11022180A>TCA415909072MASP2,TARDBPc.1410T>A (p.Asp470Glu)
c.771A>T (p.Ile257=)
c.768+3A>T (n.768+3A>T)
c.*352A>T (n.*352A>T)
c.70A>T
c.249A>T (p.Ile83=)
c.151A>T
c.411A>T (p.Ile137=)
c.37A>T
c.221+3A>T
c.512A>T
c.322A>T
c.600A>T (p.Ile200=)
c.518A>T
n.893A>T
1g.11022181T>ACA338364224MASP2,TARDBPc.1409A>T (p.Asp470Val)
c.772T>A (p.Ser258Thr)
c.768+4T>A (n.768+4T>A)
c.*353T>A (n.*353T>A)
c.71T>A
c.250T>A (p.Ser84Thr)
c.152T>A
c.412T>A (p.Ser138Thr)
c.38T>A
c.221+4T>A
c.513T>A
c.323T>A
c.601T>A (p.Ser201Thr)
c.519T>A
n.894T>A
1g.11022181T>CCA338364226MASP2,TARDBPc.1409A>G (p.Asp470Gly)
c.772T>C (p.Ser258Pro)
c.768+4T>C (n.768+4T>C)
c.*353T>C (n.*353T>C)
c.71T>C
c.250T>C (p.Ser84Pro)
c.152T>C
c.412T>C (p.Ser138Pro)
c.38T>C
c.221+4T>C
c.513T>C
c.323T>C
c.601T>C (p.Ser201Pro)
c.519T>C
n.894T>C
1g.11022181T>GCA338364225MASP2,TARDBPc.1409A>C (p.Asp470Ala)
c.772T>G (p.Ser258Ala)
c.768+4T>G (n.768+4T>G)
c.*353T>G (n.*353T>G)
c.71T>G
c.250T>G (p.Ser84Ala)
c.152T>G
c.412T>G (p.Ser138Ala)
c.38T>G
c.221+4T>G
c.513T>G
c.323T>G
c.601T>G (p.Ser201Ala)
c.519T>G
n.894T>G
1g.11022182C>ACA338364227MASP2,TARDBPc.1408G>T (p.Asp470Tyr)
c.773C>A (p.Ser258Tyr)
c.768+5C>A (n.768+5C>A)
c.*354C>A (n.*354C>A)
c.72C>A
c.251C>A (p.Ser84Tyr)
c.153C>A
c.413C>A (p.Ser138Tyr)
c.39C>A
c.221+5C>A
c.514C>A
c.324C>A
c.602C>A (p.Ser201Tyr)
c.520C>A
n.895C>A
1g.11022182C>GCA338364228MASP2,TARDBPc.1408G>C (p.Asp470His)
c.773C>G (p.Ser258Cys)
c.768+5C>G (n.768+5C>G)
c.*354C>G (n.*354C>G)
c.72C>G
c.251C>G (p.Ser84Cys)
c.153C>G
c.413C>G (p.Ser138Cys)
c.39C>G
c.221+5C>G
c.514C>G
c.324C>G
c.602C>G (p.Ser201Cys)
c.520C>G
n.895C>G
1g.11022182C>TCA338364229MASP2,TARDBPc.1408G>A (p.Asp470Asn)
c.773C>T (p.Ser258Phe)
c.768+5C>T (n.768+5C>T)
c.*354C>T (n.*354C>T)
c.72C>T
c.251C>T (p.Ser84Phe)
c.153C>T
c.413C>T (p.Ser138Phe)
c.39C>T
c.221+5C>T
c.514C>T
c.324C>T
c.602C>T (p.Ser201Phe)
c.520C>T
n.895C>T
1g.11022183C>ACA415909109MASP2,TARDBPc.1407G>T (p.Leu469Phe)
c.774C>A (p.Ser258=)
c.768+6C>A (n.768+6C>A)
c.*355C>A (n.*355C>A)
c.73C>A
c.252C>A (p.Ser84=)
c.154C>A
c.414C>A (p.Ser138=)
c.40C>A
c.221+6C>A
c.515C>A
c.325C>A
c.603C>A (p.Ser201=)
c.521C>A
n.896C>A
1g.11022183C=CA1153490037MASP2,TARDBPc.1407G= (p.Leu469=)
c.774C= (p.Ser258=)
c.768+6C= (n.768+6C=)
c.*355C= (n.*355C=)
c.73C=
c.252C= (p.Ser84=)
c.154C=
c.414C= (p.Ser138=)
c.40C=
c.221+6C=
c.515C=
c.325C=
c.603C= (p.Ser201=)
c.521C=
n.896C=
1g.11022183C>GCA415909113MASP2,TARDBPc.1407G>C (p.Leu469Phe)
c.774C>G (p.Ser258=)
c.768+6C>G (n.768+6C>G)
c.*355C>G (n.*355C>G)
c.73C>G
c.252C>G (p.Ser84=)
c.154C>G
c.414C>G (p.Ser138=)
c.40C>G
c.221+6C>G
c.515C>G
c.325C>G
c.603C>G (p.Ser201=)
c.521C>G
n.896C>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.11022183C>TCA586450MASP2,TARDBPc.1407G>A (p.Leu469=)
c.774C>T (p.Ser258=)
c.768+6C>T (n.768+6C>T)
c.*355C>T (n.*355C>T)
c.73C>T
c.252C>T (p.Ser84=)
c.154C>T
c.414C>T (p.Ser138=)
c.40C>T
c.221+6C>T
c.515C>T
c.325C>T
c.603C>T (p.Ser201=)
c.521C>T
n.896C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.11022184A>CCA338364232MASP2,TARDBPc.1406T>G (p.Leu469Trp)
c.775A>C (p.Asn259His)
c.768+7A>C (n.768+7A>C)
c.*356A>C (n.*356A>C)
c.74A>C
c.253A>C (p.Asn85His)
c.155A>C
c.415A>C (p.Asn139His)
c.41A>C
c.221+7A>C
c.516A>C
c.326A>C
c.604A>C (p.Asn202His)
c.522A>C
n.897A>C
1g.11022184A>GCA338364230MASP2,TARDBPc.1406T>C (p.Leu469Ser)
c.775A>G (p.Asn259Asp)
c.768+7A>G (n.768+7A>G)
c.*356A>G (n.*356A>G)
c.74A>G
c.253A>G (p.Asn85Asp)
c.155A>G
c.415A>G (p.Asn139Asp)
c.41A>G
c.221+7A>G
c.516A>G
c.326A>G
c.604A>G (p.Asn202Asp)
c.522A>G
n.897A>G
1g.11022184A>TCA338364231MASP2,TARDBPc.1406T>A (p.Leu469Ter)
c.775A>T (p.Asn259Tyr)
c.768+7A>T (n.768+7A>T)
c.*356A>T (n.*356A>T)
c.74A>T
c.253A>T (p.Asn85Tyr)
c.155A>T
c.415A>T (p.Asn139Tyr)
c.41A>T
c.221+7A>T
c.516A>T
c.326A>T
c.604A>T (p.Asn202Tyr)
c.522A>T
n.897A>T
1g.11022185A=CA1153490041MASP2,TARDBPc.1405T= (p.Leu469=)
c.776A= (p.Asn259=)
c.768+8A= (n.768+8A=)
c.*357A= (n.*357A=)
c.75A=
c.254A= (p.Asn85=)
c.156A=
c.416A= (p.Asn139=)
c.42A=
c.221+8A=
c.517A=
c.327A=
c.605A= (p.Asn202=)
c.523A=
n.898A=
1g.11022185A>CCA338364233MASP2,TARDBPc.1405T>G (p.Leu469Val)
c.776A>C (p.Asn259Thr)
c.768+8A>C (n.768+8A>C)
c.*357A>C (n.*357A>C)
c.75A>C
c.254A>C (p.Asn85Thr)
c.156A>C
c.416A>C (p.Asn139Thr)
c.42A>C
c.221+8A>C
c.517A>C
c.327A>C
c.605A>C (p.Asn202Thr)
c.523A>C
n.898A>C
1g.11022185A>GCA338364234MASP2,TARDBPc.1405T>C (p.Leu469=)
c.776A>G (p.Asn259Ser)
c.768+8A>G (n.768+8A>G)
c.*357A>G (n.*357A>G)
c.75A>G
c.254A>G (p.Asn85Ser)
c.156A>G
c.416A>G (p.Asn139Ser)
c.42A>G
c.221+8A>G
c.517A>G
c.327A>G
c.605A>G (p.Asn202Ser)
c.523A>G
n.898A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.11022185A>TCA338364235MASP2,TARDBPc.1405T>A (p.Leu469Met)
c.776A>T (p.Asn259Ile)
c.768+8A>T (n.768+8A>T)
c.*357A>T (n.*357A>T)
c.75A>T
c.254A>T (p.Asn85Ile)
c.156A>T
c.416A>T (p.Asn139Ile)
c.42A>T
c.221+8A>T
c.517A>T
c.327A>T
c.605A>T (p.Asn202Ile)
c.523A>T
n.898A>T
1g.11022186T>ACA338364236MASP2,TARDBPc.1404A>T (p.Ala468=)
c.777T>A (p.Asn259Lys)
c.768+9T>A (n.768+9T>A)
c.*358T>A (n.*358T>A)
c.76T>A
c.255T>A (p.Asn85Lys)
c.157T>A
c.417T>A (p.Asn139Lys)
c.43T>A
c.221+9T>A
c.518T>A
c.328T>A
c.606T>A (p.Asn202Lys)
c.524T>A
n.899T>A
1g.11022186T>CCA586451MASP2,TARDBPc.1404A>G (p.Ala468=)
c.777T>C (p.Asn259=)
c.768+9T>C (n.768+9T>C)
c.*358T>C (n.*358T>C)
c.76T>C
c.255T>C (p.Asn85=)
c.157T>C
c.417T>C (p.Asn139=)
c.43T>C
c.221+9T>C
c.518T>C
c.328T>C
c.606T>C (p.Asn202=)
c.524T>C
n.899T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.11022186T>GCA338364237MASP2,TARDBPc.1404A>C (p.Ala468=)
c.777T>G (p.Asn259Lys)
c.768+9T>G (n.768+9T>G)
c.*358T>G (n.*358T>G)
c.76T>G
c.255T>G (p.Asn85Lys)
c.157T>G
c.417T>G (p.Asn139Lys)
c.43T>G
c.221+9T>G
c.518T>G
c.328T>G
c.606T>G (p.Asn202Lys)
c.524T>G
n.899T>G
1g.11022186T=CA1153490044MASP2,TARDBPc.1404A= (p.Ala468=)
c.777T= (p.Asn259=)
c.768+9T= (n.768+9T=)
c.*358T= (n.*358T=)
c.76T=
c.255T= (p.Asn85=)
c.157T=
c.417T= (p.Asn139=)
c.43T=
c.221+9T=
c.518T=
c.328T=
c.606T= (p.Asn202=)
c.524T=
n.899T=
1g.11022187G>ACA338364240MASP2,TARDBPc.1403C>T (p.Ala468Val)
c.778G>A (p.Ala260Thr)
c.768+10G>A (n.768+10G>A)
c.*359G>A (n.*359G>A)
c.77G>A
c.256G>A (p.Ala86Thr)
c.158G>A
c.418G>A (p.Ala140Thr)
c.44G>A
c.221+10G>A
c.519G>A
c.329G>A
c.607G>A (p.Ala203Thr)
c.525G>A
n.900G>A
1g.11022187G>CCA338364239MASP2,TARDBPc.1403C>G (p.Ala468Gly)
c.778G>C (p.Ala260Pro)
c.768+10G>C (n.768+10G>C)
c.*359G>C (n.*359G>C)
c.77G>C
c.256G>C (p.Ala86Pro)
c.158G>C
c.418G>C (p.Ala140Pro)
c.44G>C
c.221+10G>C
c.519G>C
c.329G>C
c.607G>C (p.Ala203Pro)
c.525G>C
n.900G>C
1g.11022187G>TCA338364238MASP2,TARDBPc.1403C>A (p.Ala468Glu)
c.778G>T (p.Ala260Ser)
c.768+10G>T (n.768+10G>T)
c.*359G>T (n.*359G>T)
c.77G>T
c.256G>T (p.Ala86Ser)
c.158G>T
c.418G>T (p.Ala140Ser)
c.44G>T
c.221+10G>T
c.519G>T
c.329G>T
c.607G>T (p.Ala203Ser)
c.525G>T
n.900G>T
1g.11022188C>ACA338364241MASP2,TARDBPc.1402G>T (p.Ala468Ser)
c.779C>A (p.Ala260Asp)
c.768+11C>A (n.768+11C>A)
c.*360C>A (n.*360C>A)
c.78C>A
c.257C>A (p.Ala86Asp)
c.159C>A
c.419C>A (p.Ala140Asp)
c.45C>A
c.221+11C>A
c.520C>A
c.330C>A
c.608C>A (p.Ala203Asp)
c.526C>A
n.901C>A
 dbSNP gnomAD v2
1g.11022188C=CA1153490051MASP2,TARDBPc.1402G= (p.Ala468=)
c.779C= (p.Ala260=)
c.768+11C= (n.768+11C=)
c.*360C= (n.*360C=)
c.78C=
c.257C= (p.Ala86=)
c.159C=
c.419C= (p.Ala140=)
c.45C=
c.221+11C=
c.520C=
c.330C=
c.608C= (p.Ala203=)
c.526C=
n.901C=
1g.11022188C>GCA338364242MASP2,TARDBPc.1402G>C (p.Ala468Pro)
c.779C>G (p.Ala260Gly)
c.768+11C>G (n.768+11C>G)
c.*360C>G (n.*360C>G)
c.78C>G
c.257C>G (p.Ala86Gly)
c.159C>G
c.419C>G (p.Ala140Gly)
c.45C>G
c.221+11C>G
c.520C>G
c.330C>G
c.608C>G (p.Ala203Gly)
c.526C>G
n.901C>G
1g.11022188C>TCA338364243MASP2,TARDBPc.1402G>A (p.Ala468Thr)
c.779C>T (p.Ala260Val)
c.768+11C>T (n.768+11C>T)
c.*360C>T (n.*360C>T)
c.78C>T
c.257C>T (p.Ala86Val)
c.159C>T
c.419C>T (p.Ala140Val)
c.45C>T
c.221+11C>T
c.520C>T
c.330C>T
c.608C>T (p.Ala203Val)
c.526C>T
n.901C>T
1g.11022189C>ACA415909162MASP2,TARDBPc.1401G>T (p.Ser467=)
c.780C>A (p.Ala260=)
c.768+12C>A (n.768+12C>A)
c.*361C>A (n.*361C>A)
c.79C>A
c.258C>A (p.Ala86=)
c.160C>A
c.420C>A (p.Ala140=)
c.46C>A
c.221+12C>A
c.521C>A
c.331C>A
c.609C>A (p.Ala203=)
c.527C>A
n.902C>A
1g.11022189C=CA1153490056MASP2,TARDBPc.1401G= (p.Ser467=)
c.780C= (p.Ala260=)
c.768+12C= (n.768+12C=)
c.*361C= (n.*361C=)
c.79C=
c.258C= (p.Ala86=)
c.160C=
c.420C= (p.Ala140=)
c.46C=
c.221+12C=
c.521C=
c.331C=
c.609C= (p.Ala203=)
c.527C=
n.902C=
1g.11022189C>GCA415909164MASP2,TARDBPc.1401G>C (p.Ser467=)
c.780C>G (p.Ala260=)
c.768+12C>G (n.768+12C>G)
c.*361C>G (n.*361C>G)
c.79C>G
c.258C>G (p.Ala86=)
c.160C>G
c.420C>G (p.Ala140=)
c.46C>G
c.221+12C>G
c.521C>G
c.331C>G
c.609C>G (p.Ala203=)
c.527C>G
n.902C>G
 dbSNP gnomAD v4
1g.11022189C>TCA17876014MASP2,TARDBPc.1401G>A (p.Ser467=)
c.780C>T (p.Ala260=)
c.768+12C>T (n.768+12C>T)
c.*361C>T (n.*361C>T)
c.79C>T
c.258C>T (p.Ala86=)
c.160C>T
c.420C>T (p.Ala140=)
c.46C>T
c.221+12C>T
c.521C>T
c.331C>T
c.609C>T (p.Ala203=)
c.527C>T
n.902C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.11022190G>ACA586452MASP2,TARDBPc.1400C>T (p.Ser467Leu)
c.781G>A (p.Glu261Lys)
c.768+13G>A (n.768+13G>A)
c.*362G>A (n.*362G>A)
c.80G>A
c.259G>A (p.Glu87Lys)
c.161G>A
c.421G>A (p.Glu141Lys)
c.47G>A
c.221+13G>A
c.522G>A
c.332G>A
c.610G>A (p.Glu204Lys)
c.528G>A
n.903G>A
 dbSNP ExAC gnomAD v2
1g.11022190G>CCA338364244MASP2,TARDBPc.1400C>G (p.Ser467Trp)
c.781G>C (p.Glu261Gln)
c.768+13G>C (n.768+13G>C)
c.*362G>C (n.*362G>C)
c.80G>C
c.259G>C (p.Glu87Gln)
c.161G>C
c.421G>C (p.Glu141Gln)
c.47G>C
c.221+13G>C
c.522G>C
c.332G>C
c.610G>C (p.Glu204Gln)
c.528G>C
n.903G>C
1g.11022190G=CA1140474475MASP2,TARDBPc.1400C= (p.Ser467=)
c.781G= (p.Glu261=)
c.768+13G= (n.768+13G=)
c.*362G= (n.*362G=)
c.80G=
c.259G= (p.Glu87=)
c.161G=
c.421G= (p.Glu141=)
c.47G=
c.221+13G=
c.522G=
c.332G=
c.610G= (p.Glu204=)
c.528G=
n.903G=
1g.11022190G>TCA17876027MASP2,TARDBPc.1400C>A (p.Ser467Ter)
c.781G>T (p.Glu261Ter)
c.768+13G>T (n.768+13G>T)
c.*362G>T (n.*362G>T)
c.80G>T
c.259G>T (p.Glu87Ter)
c.161G>T
c.421G>T (p.Glu141Ter)
c.47G>T
c.221+13G>T
c.522G>T
c.332G>T
c.610G>T (p.Glu204Ter)
c.528G>T
n.903G>T
 dbSNP
1g.11022191A>CCA338364245MASP2,TARDBPc.1399T>G (p.Ser467Ala)
c.782A>C (p.Glu261Ala)
c.768+14A>C (n.768+14A>C)
c.*363A>C (n.*363A>C)
c.81A>C
c.260A>C (p.Glu87Ala)
c.162A>C
c.422A>C (p.Glu141Ala)
c.48A>C
c.221+14A>C
c.523A>C
c.333A>C
c.611A>C (p.Glu204Ala)
c.529A>C
n.904A>C
1g.11022191A>GCA338364247MASP2,TARDBPc.1399T>C (p.Ser467Pro)
c.782A>G (p.Glu261Gly)
c.768+14A>G (n.768+14A>G)
c.*363A>G (n.*363A>G)
c.81A>G
c.260A>G (p.Glu87Gly)
c.162A>G
c.422A>G (p.Glu141Gly)
c.48A>G
c.221+14A>G
c.523A>G
c.333A>G
c.611A>G (p.Glu204Gly)
c.529A>G
n.904A>G
1g.11022191A>TCA338364246MASP2,TARDBPc.1399T>A (p.Ser467Thr)
c.782A>T (p.Glu261Val)
c.768+14A>T (n.768+14A>T)
c.*363A>T (n.*363A>T)
c.81A>T
c.260A>T (p.Glu87Val)
c.162A>T
c.422A>T (p.Glu141Val)
c.48A>T
c.221+14A>T
c.523A>T
c.333A>T
c.611A>T (p.Glu204Val)
c.529A>T
n.904A>T
1g.11022192A=CA1153490062MASP2,TARDBPc.1398T= (p.Gly466=)
c.783A= (p.Glu261=)
c.768+15A= (n.768+15A=)
c.*364A= (n.*364A=)
c.82A=
c.261A= (p.Glu87=)
c.163A=
c.423A= (p.Glu141=)
c.49A=
c.221+15A=
c.524A=
c.334A=
c.612A= (p.Glu204=)
c.530A=
n.905A=
1g.11022192A>CCA338364248MASP2,TARDBPc.1398T>G (p.Gly466=)
c.783A>C (p.Glu261Asp)
c.768+15A>C (n.768+15A>C)
c.*364A>C (n.*364A>C)
c.82A>C
c.261A>C (p.Glu87Asp)
c.163A>C
c.423A>C (p.Glu141Asp)
c.49A>C
c.221+15A>C
c.524A>C
c.334A>C
c.612A>C (p.Glu204Asp)
c.530A>C
n.905A>C
1g.11022192A>GCA415909197MASP2,TARDBPc.1398T>C (p.Gly466=)
c.783A>G (p.Glu261=)
c.768+15A>G (n.768+15A>G)
c.*364A>G (n.*364A>G)
c.82A>G
c.261A>G (p.Glu87=)
c.163A>G
c.423A>G (p.Glu141=)
c.49A>G
c.221+15A>G
c.524A>G
c.334A>G
c.612A>G (p.Glu204=)
c.530A>G
n.905A>G
 dbSNP gnomAD v3 gnomAD v4
1g.11022192A>TCA338364249MASP2,TARDBPc.1398T>A (p.Gly466=)
c.783A>T (p.Glu261Asp)
c.768+15A>T (n.768+15A>T)
c.*364A>T (n.*364A>T)
c.82A>T
c.261A>T (p.Glu87Asp)
c.163A>T
c.423A>T (p.Glu141Asp)
c.49A>T
c.221+15A>T
c.524A>T
c.334A>T
c.612A>T (p.Glu204Asp)
c.530A>T
n.905A>T
1g.11022193C>ACA338364250MASP2,TARDBPc.1397G>T (p.Gly466Val)
c.784C>A (p.Pro262Thr)
c.768+16C>A (n.768+16C>A)
c.*365C>A (n.*365C>A)
c.83C>A
c.262C>A (p.Pro88Thr)
c.164C>A
c.424C>A (p.Pro142Thr)
c.50C>A
c.221+16C>A
c.525C>A
c.335C>A
c.613C>A (p.Pro205Thr)
c.531C>A
n.906C>A
 dbSNP
1g.11022193C=CA1153490064MASP2,TARDBPc.1397G= (p.Gly466=)
c.784C= (p.Pro262=)
c.768+16C= (n.768+16C=)
c.*365C= (n.*365C=)
c.83C=
c.262C= (p.Pro88=)
c.164C=
c.424C= (p.Pro142=)
c.50C=
c.221+16C=
c.525C=
c.335C=
c.613C= (p.Pro205=)
c.531C=
n.906C=
1g.11022193C>GCA338364251MASP2,TARDBPc.1397G>C (p.Gly466Ala)
c.784C>G (p.Pro262Ala)
c.768+16C>G (n.768+16C>G)
c.*365C>G (n.*365C>G)
c.83C>G
c.262C>G (p.Pro88Ala)
c.164C>G
c.424C>G (p.Pro142Ala)
c.50C>G
c.221+16C>G
c.525C>G
c.335C>G
c.613C>G (p.Pro205Ala)
c.531C>G
n.906C>G
1g.11022193C>TCA338364252MASP2,TARDBPc.1397G>A (p.Gly466Asp)
c.784C>T (p.Pro262Ser)
c.768+16C>T (n.768+16C>T)
c.*365C>T (n.*365C>T)
c.83C>T
c.262C>T (p.Pro88Ser)
c.164C>T
c.424C>T (p.Pro142Ser)
c.50C>T
c.221+16C>T
c.525C>T
c.335C>T
c.613C>T (p.Pro205Ser)
c.531C>T
n.906C>T
1g.11022194C>ACA338364253MASP2,TARDBPc.1397-1G>T (n.1397-1G>T)
c.785C>A (p.Pro262His)
c.768+17C>A (n.768+17C>A)
c.*366C>A (n.*366C>A)
c.84C>A
c.263C>A (p.Pro88His)
c.165C>A
c.425C>A (p.Pro142His)
c.51C>A
c.221+17C>A
c.526C>A
c.336C>A
c.614C>A (p.Pro205His)
c.532C>A
n.907C>A
1g.11022194C>GCA338364254MASP2,TARDBPc.1397-1G>C (n.1397-1G>C)
c.785C>G (p.Pro262Arg)
c.768+17C>G (n.768+17C>G)
c.*366C>G (n.*366C>G)
c.84C>G
c.263C>G (p.Pro88Arg)
c.165C>G
c.425C>G (p.Pro142Arg)
c.51C>G
c.221+17C>G
c.526C>G
c.336C>G
c.614C>G (p.Pro205Arg)
c.532C>G
n.907C>G
1g.11022194C>TCA338364255MASP2,TARDBPc.1397-1G>A (n.1397-1G>A)
c.785C>T (p.Pro262Leu)
c.768+17C>T (n.768+17C>T)
c.*366C>T (n.*366C>T)
c.84C>T
c.263C>T (p.Pro88Leu)
c.165C>T
c.425C>T (p.Pro142Leu)
c.51C>T
c.221+17C>T
c.526C>T
c.336C>T
c.614C>T (p.Pro205Leu)
c.532C>T
n.907C>T
1g.11022195T>ACA415909208MASP2,TARDBPc.1397-2A>T (n.1397-2A>T)
c.786T>A (p.Pro262=)
c.768+18T>A (n.768+18T>A)
c.*367T>A (n.*367T>A)
c.85T>A
c.264T>A (p.Pro88=)
c.166T>A
c.426T>A (p.Pro142=)
c.52T>A
c.221+18T>A
c.527T>A
c.337T>A
c.615T>A (p.Pro205=)
c.533T>A
n.908T>A
1g.11022195T>CCA415909210MASP2,TARDBPc.1397-2A>G (n.1397-2A>G)
c.786T>C (p.Pro262=)
c.768+18T>C (n.768+18T>C)
c.*367T>C (n.*367T>C)
c.85T>C
c.264T>C (p.Pro88=)
c.166T>C
c.426T>C (p.Pro142=)
c.52T>C
c.221+18T>C
c.527T>C
c.337T>C
c.615T>C (p.Pro205=)
c.533T>C
n.908T>C
 gnomAD v4
1g.11022195T>GCA415909215MASP2,TARDBPc.1397-2A>C (n.1397-2A>C)
c.786T>G (p.Pro262=)
c.768+18T>G (n.768+18T>G)
c.*367T>G (n.*367T>G)
c.85T>G
c.264T>G (p.Pro88=)
c.166T>G
c.426T>G (p.Pro142=)
c.52T>G
c.221+18T>G
c.527T>G
c.337T>G
c.615T>G (p.Pro205=)
c.533T>G
n.908T>G
1g.11022196A=CA1143537732MASP2,TARDBPc.1397-3T= (n.1397-3T=)
c.787A= (p.Lys263=)
c.768+19A= (n.768+19A=)
c.*368A= (n.*368A=)
c.86A=
c.265A= (p.Lys89=)
c.167A=
c.427A= (p.Lys143=)
c.53A=
c.221+19A=
c.528A=
c.338A=
c.616A= (p.Lys206=)
c.534A=
n.909A=
1g.11022196A>CCA338364256MASP2,TARDBPc.1397-3T>G (n.1397-3T>G)
c.787A>C (p.Lys263Gln)
c.768+19A>C (n.768+19A>C)
c.*368A>C (n.*368A>C)
c.86A>C
c.265A>C (p.Lys89Gln)
c.167A>C
c.427A>C (p.Lys143Gln)
c.53A>C
c.221+19A>C
c.528A>C
c.338A>C
c.616A>C (p.Lys206Gln)
c.534A>C
n.909A>C
1g.11022196A>GCA117346MASP2,TARDBPc.1397-3T>C (n.1397-3T>C)
c.787A>G (p.Lys263Glu)
c.768+19A>G (n.768+19A>G)
c.*368A>G (n.*368A>G)
c.86A>G
c.265A>G (p.Lys89Glu)
c.167A>G
c.427A>G (p.Lys143Glu)
c.53A>G
c.221+19A>G
c.528A>G
c.338A>G
c.616A>G (p.Lys206Glu)
c.534A>G
n.909A>G
 ClinVar dbSNP
1g.11022196A>TCA338364257MASP2,TARDBPc.1397-3T>A (n.1397-3T>A)
c.787A>T (p.Lys263Ter)
c.768+19A>T (n.768+19A>T)
c.*368A>T (n.*368A>T)
c.86A>T
c.265A>T (p.Lys89Ter)
c.167A>T
c.427A>T (p.Lys143Ter)
c.53A>T
c.221+19A>T
c.528A>T
c.338A>T
c.616A>T (p.Lys206Ter)
c.534A>T
n.909A>T
1g.11022197A>CCA338364258MASP2,TARDBPc.1397-4T>G (n.1397-4T>G)
c.788A>C (p.Lys263Thr)
c.768+20A>C (n.768+20A>C)
c.*369A>C (n.*369A>C)
c.87A>C
c.266A>C (p.Lys89Thr)
c.168A>C
c.428A>C (p.Lys143Thr)
c.54A>C
c.221+20A>C
c.529A>C
c.339A>C
c.617A>C (p.Lys206Thr)
c.535A>C
n.910A>C
1g.11022197A>GCA338364260MASP2,TARDBPc.1397-4T>C (n.1397-4T>C)
c.788A>G (p.Lys263Arg)
c.768+20A>G (n.768+20A>G)
c.*369A>G (n.*369A>G)
c.87A>G
c.266A>G (p.Lys89Arg)
c.168A>G
c.428A>G (p.Lys143Arg)
c.54A>G
c.221+20A>G
c.529A>G
c.339A>G
c.617A>G (p.Lys206Arg)
c.535A>G
n.910A>G
1g.11022197A>TCA338364259MASP2,TARDBPc.1397-4T>A (n.1397-4T>A)
c.788A>T (p.Lys263Met)
c.768+20A>T (n.768+20A>T)
c.*369A>T (n.*369A>T)
c.87A>T
c.266A>T (p.Lys89Met)
c.168A>T
c.428A>T (p.Lys143Met)
c.54A>T
c.221+20A>T
c.529A>T
c.339A>T
c.617A>T (p.Lys206Met)
c.535A>T
n.910A>T
1g.11022198G>ACA415909236MASP2,TARDBPc.1397-5C>T (n.1397-5C>T)
c.789G>A (p.Lys263=)
c.768+21G>A (n.768+21G>A)
c.*370G>A (n.*370G>A)
c.88G>A
c.267G>A (p.Lys89=)
c.169G>A
c.429G>A (p.Lys143=)
c.55G>A
c.221+21G>A
c.530G>A
c.340G>A
c.618G>A (p.Lys206=)
c.536G>A
n.911G>A
 gnomAD v4
1g.11022198G>CCA338364261MASP2,TARDBPc.1397-5C>G (n.1397-5C>G)
c.789G>C (p.Lys263Asn)
c.768+21G>C (n.768+21G>C)
c.*370G>C (n.*370G>C)
c.88G>C
c.267G>C (p.Lys89Asn)
c.169G>C
c.429G>C (p.Lys143Asn)
c.55G>C
c.221+21G>C
c.530G>C
c.340G>C
c.618G>C (p.Lys206Asn)
c.536G>C
n.911G>C
1g.11022198G>TCA338364262MASP2,TARDBPc.1397-5C>A (n.1397-5C>A)
c.789G>T (p.Lys263Asn)
c.768+21G>T (n.768+21G>T)
c.*370G>T (n.*370G>T)
c.88G>T
c.267G>T (p.Lys89Asn)
c.169G>T
c.429G>T (p.Lys143Asn)
c.55G>T
c.221+21G>T
c.530G>T
c.340G>T
c.618G>T (p.Lys206Asn)
c.536G>T
n.911G>T
1g.11022199C>ACA338364263MASP2,TARDBPc.1397-6G>T (n.1397-6G>T)
c.790C>A (p.His264Asn)
c.768+22C>A (n.768+22C>A)
c.*371C>A (n.*371C>A)
c.89C>A
c.268C>A (p.His90Asn)
c.170C>A
c.430C>A (p.His144Asn)
c.56C>A
c.221+22C>A
c.531C>A
c.341C>A
c.619C>A (p.His207Asn)
c.537C>A
n.912C>A
1g.11022199C>GCA338364264MASP2,TARDBPc.1397-6G>C (n.1397-6G>C)
c.790C>G (p.His264Asp)
c.768+22C>G (n.768+22C>G)
c.*371C>G (n.*371C>G)
c.89C>G
c.268C>G (p.His90Asp)
c.170C>G
c.430C>G (p.His144Asp)
c.56C>G
c.221+22C>G
c.531C>G
c.341C>G
c.619C>G (p.His207Asp)
c.537C>G
n.912C>G
1g.11022199C>TCA338364265MASP2,TARDBPc.1397-6G>A (n.1397-6G>A)
c.790C>T (p.His264Tyr)
c.768+22C>T (n.768+22C>T)
c.*371C>T (n.*371C>T)
c.89C>T
c.268C>T (p.His90Tyr)
c.170C>T
c.430C>T (p.His144Tyr)
c.56C>T
c.221+22C>T
c.531C>T
c.341C>T
c.619C>T (p.His207Tyr)
c.537C>T
n.912C>T
1g.11022200A>CCA338364268MASP2,TARDBPc.1397-7T>G (n.1397-7T>G)
c.791A>C (p.His264Pro)
c.768+23A>C (n.768+23A>C)
c.*372A>C (n.*372A>C)
c.90A>C
c.269A>C (p.His90Pro)
c.171A>C
c.431A>C (p.His144Pro)
c.57A>C
c.221+23A>C
c.532A>C
c.342A>C
c.620A>C (p.His207Pro)
c.538A>C
n.913A>C
1g.11022200A>GCA338364267MASP2,TARDBPc.1397-7T>C (n.1397-7T>C)
c.791A>G (p.His264Arg)
c.768+23A>G (n.768+23A>G)
c.*372A>G (n.*372A>G)
c.90A>G
c.269A>G (p.His90Arg)
c.171A>G
c.431A>G (p.His144Arg)
c.57A>G
c.221+23A>G
c.532A>G
c.342A>G
c.620A>G (p.His207Arg)
c.538A>G
n.913A>G
1g.11022200A>TCA338364266MASP2,TARDBPc.1397-7T>A (n.1397-7T>A)
c.791A>T (p.His264Leu)
c.768+23A>T (n.768+23A>T)
c.*372A>T (n.*372A>T)
c.90A>T
c.269A>T (p.His90Leu)
c.171A>T
c.431A>T (p.His144Leu)
c.57A>T
c.221+23A>T
c.532A>T
c.342A>T
c.620A>T (p.His207Leu)
c.538A>T
n.913A>T
1g.11022201C>ACA338364269MASP2,TARDBPc.1397-8G>T (n.1397-8G>T)
c.792C>A (p.His264Gln)
c.768+24C>A (n.768+24C>A)
c.*373C>A (n.*373C>A)
c.91C>A
c.270C>A (p.His90Gln)
c.172C>A
c.432C>A (p.His144Gln)
c.58C>A
c.221+24C>A
c.533C>A
c.343C>A
c.621C>A (p.His207Gln)
c.539C>A
n.914C>A
1g.11022201C=CA1144346436MASP2,TARDBPc.1397-8G= (n.1397-8G=)
c.792C= (p.His264=)
c.768+24C= (n.768+24C=)
c.*373C= (n.*373C=)
c.91C=
c.270C= (p.His90=)
c.172C=
c.432C= (p.His144=)
c.58C=
c.221+24C=
c.533C=
c.343C=
c.621C= (p.His207=)
c.539C=
n.914C=
1g.11022201C>GCA338364270MASP2,TARDBPc.1397-8G>C (n.1397-8G>C)
c.792C>G (p.His264Gln)
c.768+24C>G (n.768+24C>G)
c.*373C>G (n.*373C>G)
c.91C>G
c.270C>G (p.His90Gln)
c.172C>G
c.432C>G (p.His144Gln)
c.58C>G
c.221+24C>G
c.533C>G
c.343C>G
c.621C>G (p.His207Gln)
c.539C>G
n.914C>G
1g.11022201C>TCA586453MASP2,TARDBPc.1397-8G>A (n.1397-8G>A)
c.792C>T (p.His264=)
c.768+24C>T (n.768+24C>T)
c.*373C>T (n.*373C>T)
c.91C>T
c.270C>T (p.His90=)
c.172C>T
c.432C>T (p.His144=)
c.58C>T
c.221+24C>T
c.533C>T
c.343C>T
c.621C>T (p.His207=)
c.539C>T
n.914C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.11022202A>CCA338364271MASP2,TARDBPc.1397-9T>G (n.1397-9T>G)
c.793A>C (p.Asn265His)
c.768+25A>C (n.768+25A>C)
c.*374A>C (n.*374A>C)
c.92A>C
c.271A>C (p.Asn91His)
c.173A>C
c.433A>C (p.Asn145His)
c.59A>C
c.221+25A>C
c.534A>C
c.344A>C
c.622A>C (p.Asn208His)
c.540A>C
n.915A>C
1g.11022202A>GCA338364272MASP2,TARDBPc.1397-9T>C (n.1397-9T>C)
c.793A>G (p.Asn265Asp)
c.768+25A>G (n.768+25A>G)
c.*374A>G (n.*374A>G)
c.92A>G
c.271A>G (p.Asn91Asp)
c.173A>G
c.433A>G (p.Asn145Asp)
c.59A>G
c.221+25A>G
c.534A>G
c.344A>G
c.622A>G (p.Asn208Asp)
c.540A>G
n.915A>G
1g.11022202A>TCA338364273MASP2,TARDBPc.1397-9T>A (n.1397-9T>A)
c.793A>T (p.Asn265Tyr)
c.768+25A>T (n.768+25A>T)
c.*374A>T (n.*374A>T)
c.92A>T
c.271A>T (p.Asn91Tyr)
c.173A>T
c.433A>T (p.Asn145Tyr)
c.59A>T
c.221+25A>T
c.534A>T
c.344A>T
c.622A>T (p.Asn208Tyr)
c.540A>T
n.915A>T
1g.11022203A=CA1153490070MASP2,TARDBPc.1397-10T= (n.1397-10T=)
c.794A= (p.Asn265=)
c.768+26A= (n.768+26A=)
c.*375A= (n.*375A=)
c.93A=
c.272A= (p.Asn91=)
c.174A=
c.434A= (p.Asn145=)
c.60A=
c.221+26A=
c.535A=
c.345A=
c.623A= (p.Asn208=)
c.541A=
n.916A=
1g.11022203A>CCA338364276MASP2,TARDBPc.1397-10T>G (n.1397-10T>G)
c.794A>C (p.Asn265Thr)
c.768+26A>C (n.768+26A>C)
c.*375A>C (n.*375A>C)
c.93A>C
c.272A>C (p.Asn91Thr)
c.174A>C
c.434A>C (p.Asn145Thr)
c.60A>C
c.221+26A>C
c.535A>C
c.345A>C
c.623A>C (p.Asn208Thr)
c.541A>C
n.916A>C
1g.11022203A>GCA338364274MASP2,TARDBPc.1397-10T>C (n.1397-10T>C)
c.794A>G (p.Asn265Ser)
c.768+26A>G (n.768+26A>G)
c.*375A>G (n.*375A>G)
c.93A>G
c.272A>G (p.Asn91Ser)
c.174A>G
c.434A>G (p.Asn145Ser)
c.60A>G
c.221+26A>G
c.535A>G
c.345A>G
c.623A>G (p.Asn208Ser)
c.541A>G
n.916A>G
 dbSNP gnomAD v2 gnomAD v4
1g.11022203A>TCA338364275MASP2,TARDBPc.1397-10T>A (n.1397-10T>A)
c.794A>T (p.Asn265Ile)
c.768+26A>T (n.768+26A>T)
c.*375A>T (n.*375A>T)
c.93A>T
c.272A>T (p.Asn91Ile)
c.174A>T
c.434A>T (p.Asn145Ile)
c.60A>T
c.221+26A>T
c.535A>T
c.345A>T
c.623A>T (p.Asn208Ile)
c.541A>T
n.916A>T
1g.11022204T>ACA338364277MASP2,TARDBPc.1397-11A>T (n.1397-11A>T)
c.795T>A (p.Asn265Lys)
c.768+27T>A (n.768+27T>A)
c.*376T>A (n.*376T>A)
c.94T>A
c.273T>A (p.Asn91Lys)
c.175T>A
c.435T>A (p.Asn145Lys)
c.61T>A
c.221+27T>A
c.536T>A
c.346T>A
c.624T>A (p.Asn208Lys)
c.542T>A
n.917T>A
 gnomAD v4
1g.11022204T>CCA415909288MASP2,TARDBPc.1397-11A>G (n.1397-11A>G)
c.795T>C (p.Asn265=)
c.768+27T>C (n.768+27T>C)
c.*376T>C (n.*376T>C)
c.94T>C
c.273T>C (p.Asn91=)
c.175T>C
c.435T>C (p.Asn145=)
c.61T>C
c.221+27T>C
c.536T>C
c.346T>C
c.624T>C (p.Asn208=)
c.542T>C
n.917T>C
 dbSNP gnomAD v2 gnomAD v4
1g.11022204T>GCA338364278MASP2,TARDBPc.1397-11A>C (n.1397-11A>C)
c.795T>G (p.Asn265Lys)
c.768+27T>G (n.768+27T>G)
c.*376T>G (n.*376T>G)
c.94T>G
c.273T>G (p.Asn91Lys)
c.175T>G
c.435T>G (p.Asn145Lys)
c.61T>G
c.221+27T>G
c.536T>G
c.346T>G
c.624T>G (p.Asn208Lys)
c.542T>G
n.917T>G
1g.11022204T=CA1153490072MASP2,TARDBPc.1397-11A= (n.1397-11A=)
c.795T= (p.Asn265=)
c.768+27T= (n.768+27T=)
c.*376T= (n.*376T=)
c.94T=
c.273T= (p.Asn91=)
c.175T=
c.435T= (p.Asn145=)
c.61T=
c.221+27T=
c.536T=
c.346T=
c.624T= (p.Asn208=)
c.542T=
n.917T=
1g.11022205A>CCA338364279MASP2,TARDBPc.1397-12T>G (n.1397-12T>G)
c.796A>C (p.Ser266Arg)
c.768+28A>C (n.768+28A>C)
c.*377A>C (n.*377A>C)
c.95A>C
c.274A>C (p.Ser92Arg)
c.176A>C
c.436A>C (p.Ser146Arg)
c.62A>C
c.221+28A>C
c.537A>C
c.347A>C
c.625A>C (p.Ser209Arg)
c.543A>C
n.918A>C
1g.11022205A>GCA338364280MASP2,TARDBPc.1397-12T>C (n.1397-12T>C)
c.796A>G (p.Ser266Gly)
c.768+28A>G (n.768+28A>G)
c.*377A>G (n.*377A>G)
c.95A>G
c.274A>G (p.Ser92Gly)
c.176A>G
c.436A>G (p.Ser146Gly)
c.62A>G
c.221+28A>G
c.537A>G
c.347A>G
c.625A>G (p.Ser209Gly)
c.543A>G
n.918A>G
1g.11022205A>TCA338364281MASP2,TARDBPc.1397-12T>A (n.1397-12T>A)
c.796A>T (p.Ser266Cys)
c.768+28A>T (n.768+28A>T)
c.*377A>T (n.*377A>T)
c.95A>T
c.274A>T (p.Ser92Cys)
c.176A>T
c.436A>T (p.Ser146Cys)
c.62A>T
c.221+28A>T
c.537A>T
c.347A>T
c.625A>T (p.Ser209Cys)
c.543A>T
n.918A>T
1g.11022206G>ACA338364282MASP2,TARDBPc.1397-13C>T (n.1397-13C>T)
c.797G>A (p.Ser266Asn)
c.768+29G>A (n.768+29G>A)
c.*378G>A (n.*378G>A)
c.96G>A
c.275G>A (p.Ser92Asn)
c.177G>A
c.437G>A (p.Ser146Asn)
c.63G>A
c.221+29G>A
c.538G>A
c.348G>A
c.626G>A (p.Ser209Asn)
c.544G>A
n.919G>A
1g.11022206G>CCA338364283MASP2,TARDBPc.1397-13C>G (n.1397-13C>G)
c.797G>C (p.Ser266Thr)
c.768+29G>C (n.768+29G>C)
c.*378G>C (n.*378G>C)
c.96G>C
c.275G>C (p.Ser92Thr)
c.177G>C
c.437G>C (p.Ser146Thr)
c.63G>C
c.221+29G>C
c.538G>C
c.348G>C
c.626G>C (p.Ser209Thr)
c.544G>C
n.919G>C
1g.11022206G>TCA338364284MASP2,TARDBPc.1397-13C>A (n.1397-13C>A)
c.797G>T (p.Ser266Ile)
c.768+29G>T (n.768+29G>T)
c.*378G>T (n.*378G>T)
c.96G>T
c.275G>T (p.Ser92Ile)
c.177G>T
c.437G>T (p.Ser146Ile)
c.63G>T
c.221+29G>T
c.538G>T
c.348G>T
c.626G>T (p.Ser209Ile)
c.544G>T
n.919G>T
1g.11022207C>ACA338364285MASP2,TARDBPc.1397-14G>T (n.1397-14G>T)
c.798C>A (p.Ser266Arg)
c.768+30C>A (n.768+30C>A)
c.*379C>A (n.*379C>A)
c.97C>A
c.276C>A (p.Ser92Arg)
c.178C>A
c.438C>A (p.Ser146Arg)
c.64C>A
c.221+30C>A
c.539C>A
c.349C>A
c.627C>A (p.Ser209Arg)
c.545C>A
n.920C>A
1g.11022207C>GCA338364286MASP2,TARDBPc.1397-14G>C (n.1397-14G>C)
c.798C>G (p.Ser266Arg)
c.768+30C>G (n.768+30C>G)
c.*379C>G (n.*379C>G)
c.97C>G
c.276C>G (p.Ser92Arg)
c.178C>G
c.438C>G (p.Ser146Arg)
c.64C>G
c.221+30C>G
c.539C>G
c.349C>G
c.627C>G (p.Ser209Arg)
c.545C>G
n.920C>G
1g.11022207C>TCA415909304MASP2,TARDBPc.1397-14G>A (n.1397-14G>A)
c.798C>T (p.Ser266=)
c.768+30C>T (n.768+30C>T)
c.*379C>T (n.*379C>T)
c.97C>T
c.276C>T (p.Ser92=)
c.178C>T
c.438C>T (p.Ser146=)
c.64C>T
c.221+30C>T
c.539C>T
c.349C>T
c.627C>T (p.Ser209=)
c.545C>T
n.920C>T
1g.11022208A>CCA338364287MASP2,TARDBPc.1397-15T>G (n.1397-15T>G)
c.799A>C (p.Asn267His)
c.768+31A>C (n.768+31A>C)
c.*380A>C (n.*380A>C)
c.98A>C
c.277A>C (p.Asn93His)
c.179A>C
c.439A>C (p.Asn147His)
c.65A>C
c.221+31A>C
c.540A>C
c.350A>C
c.628A>C (p.Asn210His)
c.546A>C
n.921A>C
1g.11022208A>GCA338364288MASP2,TARDBPc.1397-15T>C (n.1397-15T>C)
c.799A>G (p.Asn267Asp)
c.768+31A>G (n.768+31A>G)
c.*380A>G (n.*380A>G)
c.98A>G
c.277A>G (p.Asn93Asp)
c.179A>G
c.439A>G (p.Asn147Asp)
c.65A>G
c.221+31A>G
c.540A>G
c.350A>G
c.628A>G (p.Asn210Asp)
c.546A>G
n.921A>G
1g.11022208A>TCA338364289MASP2,TARDBPc.1397-15T>A (n.1397-15T>A)
c.799A>T (p.Asn267Tyr)
c.768+31A>T (n.768+31A>T)
c.*380A>T (n.*380A>T)
c.98A>T
c.277A>T (p.Asn93Tyr)
c.179A>T
c.439A>T (p.Asn147Tyr)
c.65A>T
c.221+31A>T
c.540A>T
c.350A>T
c.628A>T (p.Asn210Tyr)
c.546A>T
n.921A>T
1g.11022209A=CA1141187527MASP2,TARDBPc.1397-16T= (n.1397-16T=)
c.800A= (p.Asn267=)
c.768+32A= (n.768+32A=)
c.*381A= (n.*381A=)
c.99A=
c.278A= (p.Asn93=)
c.180A=
c.440A= (p.Asn147=)
c.66A=
c.221+32A=
c.541A=
c.351A=
c.629A= (p.Asn210=)
c.547A=
n.922A=
1g.11022209A>CCA338364290MASP2,TARDBPc.1397-16T>G (n.1397-16T>G)
c.800A>C (p.Asn267Thr)
c.768+32A>C (n.768+32A>C)
c.*381A>C (n.*381A>C)
c.99A>C
c.278A>C (p.Asn93Thr)
c.180A>C
c.440A>C (p.Asn147Thr)
c.66A>C
c.221+32A>C
c.541A>C
c.351A>C
c.629A>C (p.Asn210Thr)
c.547A>C
n.922A>C
1g.11022209A>GCA586454MASP2,TARDBPc.1397-16T>C (n.1397-16T>C)
c.800A>G (p.Asn267Ser)
c.768+32A>G (n.768+32A>G)
c.*381A>G (n.*381A>G)
c.99A>G
c.278A>G (p.Asn93Ser)
c.180A>G
c.440A>G (p.Asn147Ser)
c.66A>G
c.221+32A>G
c.541A>G
c.351A>G
c.629A>G (p.Asn210Ser)
c.547A>G
n.922A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.11022209A>TCA338364291MASP2,TARDBPc.1397-16T>A (n.1397-16T>A)
c.800A>T (p.Asn267Ile)
c.768+32A>T (n.768+32A>T)
c.*381A>T (n.*381A>T)
c.99A>T
c.278A>T (p.Asn93Ile)
c.180A>T
c.440A>T (p.Asn147Ile)
c.66A>T
c.221+32A>T
c.541A>T
c.351A>T
c.629A>T (p.Asn210Ile)
c.547A>T
n.922A>T
1g.11022210T>ACA338364292MASP2,TARDBPc.1397-17A>T (n.1397-17A>T)
c.801T>A (p.Asn267Lys)
c.768+33T>A (n.768+33T>A)
c.*382T>A (n.*382T>A)
c.100T>A
c.279T>A (p.Asn93Lys)
c.181T>A
c.441T>A (p.Asn147Lys)
c.67T>A
c.221+33T>A
c.542T>A
c.352T>A
c.630T>A (p.Asn210Lys)
c.548T>A
n.923T>A
1g.11022210T>CCA17876059MASP2,TARDBPc.1397-17A>G (n.1397-17A>G)
c.801T>C (p.Asn267=)
c.768+33T>C (n.768+33T>C)
c.*382T>C (n.*382T>C)
c.100T>C
c.279T>C (p.Asn93=)
c.181T>C
c.441T>C (p.Asn147=)
c.67T>C
c.221+33T>C
c.542T>C
c.352T>C
c.630T>C (p.Asn210=)
c.548T>C
n.923T>C
 dbSNP gnomAD v3 gnomAD v4
1g.11022210T>GCA338364293MASP2,TARDBPc.1397-17A>C (n.1397-17A>C)
c.801T>G (p.Asn267Lys)
c.768+33T>G (n.768+33T>G)
c.*382T>G (n.*382T>G)
c.100T>G
c.279T>G (p.Asn93Lys)
c.181T>G
c.441T>G (p.Asn147Lys)
c.67T>G
c.221+33T>G
c.542T>G
c.352T>G
c.630T>G (p.Asn210Lys)
c.548T>G
n.923T>G
1g.11022210T=CA1143704672MASP2,TARDBPc.1397-17A= (n.1397-17A=)
c.801T= (p.Asn267=)
c.768+33T= (n.768+33T=)
c.*382T= (n.*382T=)
c.100T=
c.279T= (p.Asn93=)
c.181T=
c.441T= (p.Asn147=)
c.67T=
c.221+33T=
c.542T=
c.352T=
c.630T= (p.Asn210=)
c.548T=
n.923T=
1g.11022211A>CCA415909336MASP2,TARDBPc.1397-18T>G (n.1397-18T>G)
c.802A>C (p.Arg268=)
c.768+34A>C (n.768+34A>C)
c.*383A>C (n.*383A>C)
c.101A>C
c.280A>C (p.Arg94=)
c.182A>C
c.442A>C (p.Arg148=)
c.68A>C
c.221+34A>C
c.543A>C
c.353A>C
c.631A>C (p.Arg211=)
c.549A>C
n.924A>C
1g.11022211A>GCA338364294MASP2,TARDBPc.1397-18T>C (n.1397-18T>C)
c.802A>G (p.Arg268Gly)
c.768+34A>G (n.768+34A>G)
c.*383A>G (n.*383A>G)
c.101A>G
c.280A>G (p.Arg94Gly)
c.182A>G
c.442A>G (p.Arg148Gly)
c.68A>G
c.221+34A>G
c.543A>G
c.353A>G
c.631A>G (p.Arg211Gly)
c.549A>G
n.924A>G
 gnomAD v4
1g.11022211A>TCA338364295MASP2,TARDBPc.1397-18T>A (n.1397-18T>A)
c.802A>T (p.Arg268Ter)
c.768+34A>T (n.768+34A>T)
c.*383A>T (n.*383A>T)
c.101A>T
c.280A>T (p.Arg94Ter)
c.182A>T
c.442A>T (p.Arg148Ter)
c.68A>T
c.221+34A>T
c.543A>T
c.353A>T
c.631A>T (p.Arg211Ter)
c.549A>T
n.924A>T
1g.11022212G>ACA338364296MASP2,TARDBPc.1397-19C>T (n.1397-19C>T)
c.803G>A (p.Arg268Lys)
c.768+35G>A (n.768+35G>A)
c.*384G>A (n.*384G>A)
c.102G>A
c.281G>A (p.Arg94Lys)
c.183G>A
c.443G>A (p.Arg148Lys)
c.69G>A
c.221+35G>A
c.544G>A
c.354G>A
c.632G>A (p.Arg211Lys)
c.550G>A
n.925G>A
 dbSNP
1g.11022212G>CCA338364297MASP2,TARDBPc.1397-19C>G (n.1397-19C>G)
c.803G>C (p.Arg268Thr)
c.768+35G>C (n.768+35G>C)
c.*384G>C (n.*384G>C)
c.102G>C
c.281G>C (p.Arg94Thr)
c.183G>C
c.443G>C (p.Arg148Thr)
c.69G>C
c.221+35G>C
c.544G>C
c.354G>C
c.632G>C (p.Arg211Thr)
c.550G>C
n.925G>C
1g.11022212G=CA1153490085MASP2,TARDBPc.1397-19C= (n.1397-19C=)
c.803G= (p.Arg268=)
c.768+35G= (n.768+35G=)
c.*384G= (n.*384G=)
c.102G=
c.281G= (p.Arg94=)
c.183G=
c.443G= (p.Arg148=)
c.69G=
c.221+35G=
c.544G=
c.354G=
c.632G= (p.Arg211=)
c.550G=
n.925G=
1g.11022212G>TCA338364298MASP2,TARDBPc.1397-19C>A (n.1397-19C>A)
c.803G>T (p.Arg268Ile)
c.768+35G>T (n.768+35G>T)
c.*384G>T (n.*384G>T)
c.102G>T
c.281G>T (p.Arg94Ile)
c.183G>T
c.443G>T (p.Arg148Ile)
c.69G>T
c.221+35G>T
c.544G>T
c.354G>T
c.632G>T (p.Arg211Ile)
c.550G>T
n.925G>T
1g.11022213A>CCA338364299MASP2,TARDBPc.1397-20T>G (n.1397-20T>G)
c.804A>C (p.Arg268Ser)
c.768+36A>C (n.768+36A>C)
c.*385A>C (n.*385A>C)
c.103A>C
c.282A>C (p.Arg94Ser)
c.184A>C
c.444A>C (p.Arg148Ser)
c.70A>C
c.221+36A>C
c.545A>C
c.355A>C
c.633A>C (p.Arg211Ser)
c.551A>C
n.926A>C
1g.11022213A>GCA415909371MASP2,TARDBPc.1397-20T>C (n.1397-20T>C)
c.804A>G (p.Arg268=)
c.768+36A>G (n.768+36A>G)
c.*385A>G (n.*385A>G)
c.103A>G
c.282A>G (p.Arg94=)
c.184A>G
c.444A>G (p.Arg148=)
c.70A>G
c.221+36A>G
c.545A>G
c.355A>G
c.633A>G (p.Arg211=)
c.551A>G
n.926A>G
1g.11022213A>TCA338364300MASP2,TARDBPc.1397-20T>A (n.1397-20T>A)
c.804A>T (p.Arg268Ser)
c.768+36A>T (n.768+36A>T)
c.*385A>T (n.*385A>T)
c.103A>T
c.282A>T (p.Arg94Ser)
c.184A>T
c.444A>T (p.Arg148Ser)
c.70A>T
c.221+36A>T
c.545A>T
c.355A>T
c.633A>T (p.Arg211Ser)
c.551A>T
n.926A>T
1g.11022214C>ACA338364301MASP2,TARDBPc.1397-21G>T (n.1397-21G>T)
c.805C>A (p.Gln269Lys)
c.768+37C>A (n.768+37C>A)
c.*386C>A (n.*386C>A)
c.104C>A
c.283C>A (p.Gln95Lys)
c.185C>A
c.445C>A (p.Gln149Lys)
c.71C>A
c.221+37C>A
c.546C>A
c.356C>A
c.634C>A (p.Gln212Lys)
c.552C>A
n.927C>A
1g.11022214C>GCA338364302MASP2,TARDBPc.1397-21G>C (n.1397-21G>C)
c.805C>G (p.Gln269Glu)
c.768+37C>G (n.768+37C>G)
c.*386C>G (n.*386C>G)
c.104C>G
c.283C>G (p.Gln95Glu)
c.185C>G
c.445C>G (p.Gln149Glu)
c.71C>G
c.221+37C>G
c.546C>G
c.356C>G
c.634C>G (p.Gln212Glu)
c.552C>G
n.927C>G
1g.11022214C>TCA338364303MASP2,TARDBPc.1397-21G>A (n.1397-21G>A)
c.805C>T (p.Gln269Ter)
c.768+37C>T (n.768+37C>T)
c.*386C>T (n.*386C>T)
c.104C>T
c.283C>T (p.Gln95Ter)
c.185C>T
c.445C>T (p.Gln149Ter)
c.71C>T
c.221+37C>T
c.546C>T
c.356C>T
c.634C>T (p.Gln212Ter)
c.552C>T
n.927C>T
1g.11022214_11022218delinsCAGTTCA1153490087MASP2,TARDBPc.1397-25_1397-21delinsAACTG (n.1397-25_1397-21delinsAACTG)
c.805_809delinsCAGTT (p.Gln269=)
c.768+37_768+41delinsCAGTT (n.768+37_768+41delinsCAGTT)
c.*386_*390delinsCAGTT (n.*386_*390delinsCAGTT)
c.104_108delinsCAGTT
c.283_287delinsCAGTT (p.Gln95=)
c.185_189delinsCAGTT
c.445_449delinsCAGTT (p.Gln149=)
c.71_75delinsCAGTT
c.221+37_221+41delinsCAGTT
c.546_550delinsCAGTT
c.356_360delinsCAGTT
c.634_638delinsCAGTT (p.Gln212=)
c.552_556delinsCAGTT
n.927_931delinsCAGTT
1g.11022215A>CCA338364306MASP2,TARDBPc.1397-22T>G (n.1397-22T>G)
c.806A>C (p.Gln269Pro)
c.768+38A>C (n.768+38A>C)
c.*387A>C (n.*387A>C)
c.105A>C
c.284A>C (p.Gln95Pro)
c.186A>C
c.446A>C (p.Gln149Pro)
c.72A>C
c.221+38A>C
c.547A>C
c.357A>C
c.635A>C (p.Gln212Pro)
c.553A>C
n.928A>C
1g.11022215A>GCA338364304MASP2,TARDBPc.1397-22T>C (n.1397-22T>C)
c.806A>G (p.Gln269Arg)
c.768+38A>G (n.768+38A>G)
c.*387A>G (n.*387A>G)
c.105A>G
c.284A>G (p.Gln95Arg)
c.186A>G
c.446A>G (p.Gln149Arg)
c.72A>G
c.221+38A>G
c.547A>G
c.357A>G
c.635A>G (p.Gln212Arg)
c.553A>G
n.928A>G
1g.11022215A>TCA338364305MASP2,TARDBPc.1397-22T>A (n.1397-22T>A)
c.806A>T (p.Gln269Leu)
c.768+38A>T (n.768+38A>T)
c.*387A>T (n.*387A>T)
c.105A>T
c.284A>T (p.Gln95Leu)
c.186A>T
c.446A>T (p.Gln149Leu)
c.72A>T
c.221+38A>T
c.547A>T
c.357A>T
c.635A>T (p.Gln212Leu)
c.553A>T
n.928A>T
 gnomAD v4
1g.11022217_11022220delCA17876074MASP2,TARDBPc.1397-25_1397-22del (n.1397-25_1397-22del)
c.808_811del (p.Leu270LysfsTer?)
c.808_811del (p.Leu270LysfsTer21)
c.768+40_768+43del (n.768+40_768+43del)
c.*389_*392del (n.*389_*392del)
c.808_811del (p.Leu270LysfsTer24)
c.107_110del
c.286_289del (p.Leu96LysfsTer?)
c.188_191del
c.448_451del (p.Leu150LysfsTer21)
c.74_77del
c.221+40_221+43del
c.549_552del
c.359_362del
c.637_640del (p.Leu213LysfsTer?)
c.808_811del (p.Leu270LysfsTer30)
c.555_558del
n.930_933del
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.11022216G>ACA415909386MASP2,TARDBPc.1397-23C>T (n.1397-23C>T)
c.807G>A (p.Gln269=)
c.768+39G>A (n.768+39G>A)
c.*388G>A (n.*388G>A)
c.106G>A
c.285G>A (p.Gln95=)
c.187G>A
c.447G>A (p.Gln149=)
c.73G>A
c.221+39G>A
c.548G>A
c.358G>A
c.636G>A (p.Gln212=)
c.554G>A
n.929G>A
 dbSNP gnomAD v2 gnomAD v4
1g.11022216G>CCA338364307MASP2,TARDBPc.1397-23C>G (n.1397-23C>G)
c.807G>C (p.Gln269His)
c.768+39G>C (n.768+39G>C)
c.*388G>C (n.*388G>C)
c.106G>C
c.285G>C (p.Gln95His)
c.187G>C
c.447G>C (p.Gln149His)
c.73G>C
c.221+39G>C
c.548G>C
c.358G>C
c.636G>C (p.Gln212His)
c.554G>C
n.929G>C
1g.11022216G=CA1153490090MASP2,TARDBPc.1397-23C= (n.1397-23C=)
c.807G= (p.Gln269=)
c.768+39G= (n.768+39G=)
c.*388G= (n.*388G=)
c.106G=
c.285G= (p.Gln95=)
c.187G=
c.447G= (p.Gln149=)
c.73G=
c.221+39G=
c.548G=
c.358G=
c.636G= (p.Gln212=)
c.554G=
n.929G=
1g.11022216G>TCA338364308MASP2,TARDBPc.1397-23C>A (n.1397-23C>A)
c.807G>T (p.Gln269His)
c.768+39G>T (n.768+39G>T)
c.*388G>T (n.*388G>T)
c.106G>T
c.285G>T (p.Gln95His)
c.187G>T
c.447G>T (p.Gln149His)
c.73G>T
c.221+39G>T
c.548G>T
c.358G>T
c.636G>T (p.Gln212His)
c.554G>T
n.929G>T
1g.11022217T>ACA338364309MASP2,TARDBPc.1397-24A>T (n.1397-24A>T)
c.808T>A (p.Leu270Ile)
c.768+40T>A (n.768+40T>A)
c.*389T>A (n.*389T>A)
c.107T>A
c.286T>A (p.Leu96Ile)
c.188T>A
c.448T>A (p.Leu150Ile)
c.74T>A
c.221+40T>A
c.549T>A
c.359T>A
c.637T>A (p.Leu213Ile)
c.555T>A
n.930T>A
1g.11022217T>CCA586455MASP2,TARDBPc.1397-24A>G (n.1397-24A>G)
c.808T>C (p.Leu270=)
c.768+40T>C (n.768+40T>C)
c.*389T>C (n.*389T>C)
c.107T>C
c.286T>C (p.Leu96=)
c.188T>C
c.448T>C (p.Leu150=)
c.74T>C
c.221+40T>C
c.549T>C
c.359T>C
c.637T>C (p.Leu213=)
c.555T>C
n.930T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.11022217T>GCA338364310MASP2,TARDBPc.1397-24A>C (n.1397-24A>C)
c.808T>G (p.Leu270Val)
c.768+40T>G (n.768+40T>G)
c.*389T>G (n.*389T>G)
c.107T>G
c.286T>G (p.Leu96Val)
c.188T>G
c.448T>G (p.Leu150Val)
c.74T>G
c.221+40T>G
c.549T>G
c.359T>G
c.637T>G (p.Leu213Val)
c.555T>G
n.930T>G
1g.11022217T=CA1153490091MASP2,TARDBPc.1397-24A= (n.1397-24A=)
c.808T= (p.Leu270=)
c.768+40T= (n.768+40T=)
c.*389T= (n.*389T=)
c.107T=
c.286T= (p.Leu96=)
c.188T=
c.448T= (p.Leu150=)
c.74T=
c.221+40T=
c.549T=
c.359T=
c.637T= (p.Leu213=)
c.555T=
n.930T=
1g.11022218T>ACA338364311MASP2,TARDBPc.1397-25A>T (n.1397-25A>T)
c.809T>A (p.Leu270Ter)
c.768+41T>A (n.768+41T>A)
c.*390T>A (n.*390T>A)
c.108T>A
c.287T>A (p.Leu96Ter)
c.189T>A
c.449T>A (p.Leu150Ter)
c.75T>A
c.221+41T>A
c.550T>A
c.360T>A
c.638T>A (p.Leu213Ter)
c.556T>A
n.931T>A
1g.11022218T>CCA338364312MASP2,TARDBPc.1397-25A>G (n.1397-25A>G)
c.809T>C (p.Leu270Ser)
c.768+41T>C (n.768+41T>C)
c.*390T>C (n.*390T>C)
c.108T>C
c.287T>C (p.Leu96Ser)
c.189T>C
c.449T>C (p.Leu150Ser)
c.75T>C
c.221+41T>C
c.550T>C
c.360T>C
c.638T>C (p.Leu213Ser)
c.556T>C
n.931T>C
1g.11022218T>GCA338364313MASP2,TARDBPc.1397-25A>C (n.1397-25A>C)
c.809T>G (p.Leu270Ter)
c.768+41T>G (n.768+41T>G)
c.*390T>G (n.*390T>G)
c.108T>G
c.287T>G (p.Leu96Ter)
c.189T>G
c.449T>G (p.Leu150Ter)
c.75T>G
c.221+41T>G
c.550T>G
c.360T>G
c.638T>G (p.Leu213Ter)
c.556T>G
n.931T>G
1g.11022219A>CCA338364314MASP2,TARDBPc.1397-26T>G (n.1397-26T>G)
c.810A>C (p.Leu270Phe)
c.768+42A>C (n.768+42A>C)
c.*391A>C (n.*391A>C)
c.109A>C
c.288A>C (p.Leu96Phe)
c.190A>C
c.450A>C (p.Leu150Phe)
c.76A>C
c.221+42A>C
c.551A>C
c.361A>C
c.639A>C (p.Leu213Phe)
c.557A>C
n.932A>C
1g.11022219A>GCA415909394MASP2,TARDBPc.1397-26T>C (n.1397-26T>C)
c.810A>G (p.Leu270=)
c.768+42A>G (n.768+42A>G)
c.*391A>G (n.*391A>G)
c.109A>G
c.288A>G (p.Leu96=)
c.190A>G
c.450A>G (p.Leu150=)
c.76A>G
c.221+42A>G
c.551A>G
c.361A>G
c.639A>G (p.Leu213=)
c.557A>G
n.932A>G
1g.11022219A>TCA338364315MASP2,TARDBPc.1397-26T>A (n.1397-26T>A)
c.810A>T (p.Leu270Phe)
c.768+42A>T (n.768+42A>T)
c.*391A>T (n.*391A>T)
c.109A>T
c.288A>T (p.Leu96Phe)
c.190A>T
c.450A>T (p.Leu150Phe)
c.76A>T
c.221+42A>T
c.551A>T
c.361A>T
c.639A>T (p.Leu213Phe)
c.557A>T
n.932A>T
1g.11022220G>ACA338364316MASP2,TARDBPc.1397-27C>T (n.1397-27C>T)
c.811G>A (p.Glu271Lys)
c.768+43G>A (n.768+43G>A)
c.*392G>A (n.*392G>A)
c.110G>A
c.289G>A (p.Glu97Lys)
c.191G>A
c.451G>A (p.Glu151Lys)
c.77G>A
c.221+43G>A
c.552G>A
c.362G>A
c.640G>A (p.Glu214Lys)
c.558G>A
n.933G>A
1g.11022220G>CCA338364318MASP2,TARDBPc.1397-27C>G (n.1397-27C>G)
c.811G>C (p.Glu271Gln)
c.768+43G>C (n.768+43G>C)
c.*392G>C (n.*392G>C)
c.110G>C
c.289G>C (p.Glu97Gln)
c.191G>C
c.451G>C (p.Glu151Gln)
c.77G>C
c.221+43G>C
c.552G>C
c.362G>C
c.640G>C (p.Glu214Gln)
c.558G>C
n.933G>C
1g.11022220G>TCA338364317MASP2,TARDBPc.1397-27C>A (n.1397-27C>A)
c.811G>T (p.Glu271Ter)
c.768+43G>T (n.768+43G>T)
c.*392G>T (n.*392G>T)
c.110G>T
c.289G>T (p.Glu97Ter)
c.191G>T
c.451G>T (p.Glu151Ter)
c.77G>T
c.221+43G>T
c.552G>T
c.362G>T
c.640G>T (p.Glu214Ter)
c.558G>T
n.933G>T
1g.11022221A>CCA338364319MASP2,TARDBPc.1397-28T>G (n.1397-28T>G)
c.812A>C (p.Glu271Ala)
c.768+44A>C (n.768+44A>C)
c.*393A>C (n.*393A>C)
c.111A>C
c.290A>C (p.Glu97Ala)
c.192A>C
c.452A>C (p.Glu151Ala)
c.78A>C
c.221+44A>C
c.553A>C
c.363A>C
c.641A>C (p.Glu214Ala)
c.559A>C
n.934A>C
1g.11022221A>GCA338364321MASP2,TARDBPc.1397-28T>C (n.1397-28T>C)
c.812A>G (p.Glu271Gly)
c.768+44A>G (n.768+44A>G)
c.*393A>G (n.*393A>G)
c.111A>G
c.290A>G (p.Glu97Gly)
c.192A>G
c.452A>G (p.Glu151Gly)
c.78A>G
c.221+44A>G
c.553A>G
c.363A>G
c.641A>G (p.Glu214Gly)
c.559A>G
n.934A>G
1g.11022221A>TCA338364320MASP2,TARDBPc.1397-28T>A (n.1397-28T>A)
c.812A>T (p.Glu271Val)
c.768+44A>T (n.768+44A>T)
c.*393A>T (n.*393A>T)
c.111A>T
c.290A>T (p.Glu97Val)
c.192A>T
c.452A>T (p.Glu151Val)
c.78A>T
c.221+44A>T
c.553A>T
c.363A>T
c.641A>T (p.Glu214Val)
c.559A>T
n.934A>T
1g.11022222A>CCA338364322MASP2,TARDBPc.1397-29T>G (n.1397-29T>G)
c.813A>C (p.Glu271Asp)
c.768+45A>C (n.768+45A>C)
c.*394A>C (n.*394A>C)
c.112A>C
c.291A>C (p.Glu97Asp)
c.193A>C
c.453A>C (p.Glu151Asp)
c.79A>C
c.221+45A>C
c.554A>C
c.364A>C
c.642A>C (p.Glu214Asp)
c.560A>C
n.935A>C
1g.11022222A>GCA415909402MASP2,TARDBPc.1397-29T>C (n.1397-29T>C)
c.813A>G (p.Glu271=)
c.768+45A>G (n.768+45A>G)
c.*394A>G (n.*394A>G)
c.112A>G
c.291A>G (p.Glu97=)
c.193A>G
c.453A>G (p.Glu151=)
c.79A>G
c.221+45A>G
c.554A>G
c.364A>G
c.642A>G (p.Glu214=)
c.560A>G
n.935A>G
1g.11022222A>TCA338364323MASP2,TARDBPc.1397-29T>A (n.1397-29T>A)
c.813A>T (p.Glu271Asp)
c.768+45A>T (n.768+45A>T)
c.*394A>T (n.*394A>T)
c.112A>T
c.291A>T (p.Glu97Asp)
c.193A>T
c.453A>T (p.Glu151Asp)
c.79A>T
c.221+45A>T
c.554A>T
c.364A>T
c.642A>T (p.Glu214Asp)
c.560A>T
n.935A>T
1g.11022223A>CCA415909405MASP2,TARDBPc.1397-30T>G (n.1397-30T>G)
c.814A>C (p.Arg272=)
c.768+46A>C (n.768+46A>C)
c.*395A>C (n.*395A>C)
c.113A>C
c.292A>C (p.Arg98=)
c.194A>C
c.454A>C (p.Arg152=)
c.80A>C
c.221+46A>C
c.555A>C
c.365A>C
c.643A>C (p.Arg215=)
c.561A>C
n.936A>C
1g.11022223A>GCA338364324MASP2,TARDBPc.1397-30T>C (n.1397-30T>C)
c.814A>G (p.Arg272Gly)
c.768+46A>G (n.768+46A>G)
c.*395A>G (n.*395A>G)
c.113A>G
c.292A>G (p.Arg98Gly)
c.194A>G
c.454A>G (p.Arg152Gly)
c.80A>G
c.221+46A>G
c.555A>G
c.365A>G
c.643A>G (p.Arg215Gly)
c.561A>G
n.936A>G
1g.11022223A>TCA338364325MASP2,TARDBPc.1397-30T>A (n.1397-30T>A)
c.814A>T (p.Arg272Ter)
c.768+46A>T (n.768+46A>T)
c.*395A>T (n.*395A>T)
c.113A>T
c.292A>T (p.Arg98Ter)
c.194A>T
c.454A>T (p.Arg152Ter)
c.80A>T
c.221+46A>T
c.555A>T
c.365A>T
c.643A>T (p.Arg215Ter)
c.561A>T
n.936A>T
1g.11022224G>ACA338364326MASP2,TARDBPc.1397-31C>T (n.1397-31C>T)
c.815G>A (p.Arg272Lys)
c.768+47G>A (n.768+47G>A)
c.*396G>A (n.*396G>A)
c.114G>A
c.293G>A (p.Arg98Lys)
c.195G>A
c.455G>A (p.Arg152Lys)
c.81G>A
c.221+47G>A
c.556G>A
c.366G>A
c.644G>A (p.Arg215Lys)
c.562G>A
n.937G>A
1g.11022224G>CCA338364327MASP2,TARDBPc.1397-31C>G (n.1397-31C>G)
c.815G>C (p.Arg272Thr)
c.768+47G>C (n.768+47G>C)
c.*396G>C (n.*396G>C)
c.114G>C
c.293G>C (p.Arg98Thr)
c.195G>C
c.455G>C (p.Arg152Thr)
c.81G>C
c.221+47G>C
c.556G>C
c.366G>C
c.644G>C (p.Arg215Thr)
c.562G>C
n.937G>C
1g.11022224G>TCA338364328MASP2,TARDBPc.1397-31C>A (n.1397-31C>A)
c.815G>T (p.Arg272Ile)
c.768+47G>T (n.768+47G>T)
c.*396G>T (n.*396G>T)
c.114G>T
c.293G>T (p.Arg98Ile)
c.195G>T
c.455G>T (p.Arg152Ile)
c.81G>T
c.221+47G>T
c.556G>T
c.366G>T
c.644G>T (p.Arg215Ile)
c.562G>T
n.937G>T
1g.11022225A=CA1153490094MASP2,TARDBPc.1397-32T= (n.1397-32T=)
c.816A= (p.Arg272=)
c.768+48A= (n.768+48A=)
c.*397A= (n.*397A=)
c.115A=
c.294A= (p.Arg98=)
c.196A=
c.456A= (p.Arg152=)
c.82A=
c.221+48A=
c.557A=
c.367A=
c.645A= (p.Arg215=)
c.563A=
n.938A=
1g.11022225A>CCA338364329MASP2,TARDBPc.1397-32T>G (n.1397-32T>G)
c.816A>C (p.Arg272Ser)
c.768+48A>C (n.768+48A>C)
c.*397A>C (n.*397A>C)
c.115A>C
c.294A>C (p.Arg98Ser)
c.196A>C
c.456A>C (p.Arg152Ser)
c.82A>C
c.221+48A>C
c.557A>C
c.367A>C
c.645A>C (p.Arg215Ser)
c.563A>C
n.938A>C
1g.11022225A>GCA415909407MASP2,TARDBPc.1397-32T>C (n.1397-32T>C)
c.816A>G (p.Arg272=)
c.768+48A>G (n.768+48A>G)
c.*397A>G (n.*397A>G)
c.115A>G
c.294A>G (p.Arg98=)
c.196A>G
c.456A>G (p.Arg152=)
c.82A>G
c.221+48A>G
c.557A>G
c.367A>G
c.645A>G (p.Arg215=)
c.563A>G
n.938A>G
 dbSNP gnomAD v3 gnomAD v4
1g.11022225A>TCA338364330MASP2,TARDBPc.1397-32T>A (n.1397-32T>A)
c.816A>T (p.Arg272Ser)
c.768+48A>T (n.768+48A>T)
c.*397A>T (n.*397A>T)
c.115A>T
c.294A>T (p.Arg98Ser)
c.196A>T
c.456A>T (p.Arg152Ser)
c.82A>T
c.221+48A>T
c.557A>T
c.367A>T
c.645A>T (p.Arg215Ser)
c.563A>T
n.938A>T
1g.11022226A=CA1153490098MASP2,TARDBPc.1397-33T= (n.1397-33T=)
c.817A= (p.Ser273=)
c.768+49A= (n.768+49A=)
c.*398A= (n.*398A=)
c.116A=
c.295A= (p.Ser99=)
c.197A=
c.457A= (p.Ser153=)
c.83A=
c.221+49A=
c.558A=
c.368A=
c.646A= (p.Ser216=)
c.564A=
n.939A=
1g.11022226A>CCA338364331MASP2,TARDBPc.1397-33T>G (n.1397-33T>G)
c.817A>C (p.Ser273Arg)
c.768+49A>C (n.768+49A>C)
c.*398A>C (n.*398A>C)
c.116A>C
c.295A>C (p.Ser99Arg)
c.197A>C
c.457A>C (p.Ser153Arg)
c.83A>C
c.221+49A>C
c.558A>C
c.368A>C
c.646A>C (p.Ser216Arg)
c.564A>C
n.939A>C
1g.11022226A>GCA338364332MASP2,TARDBPc.1397-33T>C (n.1397-33T>C)
c.817A>G (p.Ser273Gly)
c.768+49A>G (n.768+49A>G)
c.*398A>G (n.*398A>G)
c.116A>G
c.295A>G (p.Ser99Gly)
c.197A>G
c.457A>G (p.Ser153Gly)
c.83A>G
c.221+49A>G
c.558A>G
c.368A>G
c.646A>G (p.Ser216Gly)
c.564A>G
n.939A>G
1g.11022226A>TCA586456MASP2,TARDBPc.1397-33T>A (n.1397-33T>A)
c.817A>T (p.Ser273Cys)
c.768+49A>T (n.768+49A>T)
c.*398A>T (n.*398A>T)
c.116A>T
c.295A>T (p.Ser99Cys)
c.197A>T
c.457A>T (p.Ser153Cys)
c.83A>T
c.221+49A>T
c.558A>T
c.368A>T
c.646A>T (p.Ser216Cys)
c.564A>T
n.939A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.11022227G>ACA338364333MASP2,TARDBPc.1397-34C>T (n.1397-34C>T)
c.818G>A (p.Ser273Asn)
c.768+50G>A (n.768+50G>A)
c.*399G>A (n.*399G>A)
c.117G>A
c.296G>A (p.Ser99Asn)
c.198G>A
c.458G>A (p.Ser153Asn)
c.84G>A
c.221+50G>A
c.559G>A
c.369G>A
c.647G>A (p.Ser216Asn)
c.565G>A
n.940G>A
1g.11022227G>CCA338364334MASP2,TARDBPc.1397-34C>G (n.1397-34C>G)
c.818G>C (p.Ser273Thr)
c.768+50G>C (n.768+50G>C)
c.*399G>C (n.*399G>C)
c.117G>C
c.296G>C (p.Ser99Thr)
c.198G>C
c.458G>C (p.Ser153Thr)
c.84G>C
c.221+50G>C
c.559G>C
c.369G>C
c.647G>C (p.Ser216Thr)
c.565G>C
n.940G>C
1g.11022227G>TCA338364335MASP2,TARDBPc.1397-34C>A (n.1397-34C>A)
c.818G>T (p.Ser273Ile)
c.768+50G>T (n.768+50G>T)
c.*399G>T (n.*399G>T)
c.117G>T
c.296G>T (p.Ser99Ile)
c.198G>T
c.458G>T (p.Ser153Ile)
c.84G>T
c.221+50G>T
c.559G>T
c.369G>T
c.647G>T (p.Ser216Ile)
c.565G>T
n.940G>T
1g.11022228T>ACA338364336MASP2,TARDBPc.1397-35A>T (n.1397-35A>T)
c.819T>A (p.Ser273Arg)
c.768+51T>A (n.768+51T>A)
c.*400T>A (n.*400T>A)
c.118T>A
c.297T>A (p.Ser99Arg)
c.199T>A
c.459T>A (p.Ser153Arg)
c.85T>A
c.221+51T>A
c.560T>A
c.370T>A
c.648T>A (p.Ser216Arg)
c.566T>A
n.941T>A
1g.11022228T>CCA415909416MASP2,TARDBPc.1397-35A>G (n.1397-35A>G)
c.819T>C (p.Ser273=)
c.768+51T>C (n.768+51T>C)
c.*400T>C (n.*400T>C)
c.118T>C
c.297T>C (p.Ser99=)
c.199T>C
c.459T>C (p.Ser153=)
c.85T>C
c.221+51T>C
c.560T>C
c.370T>C
c.648T>C (p.Ser216=)
c.566T>C
n.941T>C
1g.11022228T>GCA338364337MASP2,TARDBPc.1397-35A>C (n.1397-35A>C)
c.819T>G (p.Ser273Arg)
c.768+51T>G (n.768+51T>G)
c.*400T>G (n.*400T>G)
c.118T>G
c.297T>G (p.Ser99Arg)
c.199T>G
c.459T>G (p.Ser153Arg)
c.85T>G
c.221+51T>G
c.560T>G
c.370T>G
c.648T>G (p.Ser216Arg)
c.566T>G
n.941T>G
1g.11022229G>ACA338364338MASP2,TARDBPc.1397-36C>T (n.1397-36C>T)
c.820G>A (p.Gly274Arg)
c.768+52G>A (n.768+52G>A)
c.*401G>A (n.*401G>A)
c.119G>A
c.298G>A (p.Gly100Arg)
c.200G>A
c.460G>A (p.Gly154Arg)
c.86G>A
c.221+52G>A
c.561G>A
c.371G>A
c.649G>A (p.Gly217Arg)
c.567G>A
n.942G>A
1g.11022229G>CCA338364339MASP2,TARDBPc.1397-36C>G (n.1397-36C>G)
c.820G>C (p.Gly274Arg)
c.768+52G>C (n.768+52G>C)
c.*401G>C (n.*401G>C)
c.119G>C
c.298G>C (p.Gly100Arg)
c.200G>C
c.460G>C (p.Gly154Arg)
c.86G>C
c.221+52G>C
c.561G>C
c.371G>C
c.649G>C (p.Gly217Arg)
c.567G>C
n.942G>C
1g.11022229G>TCA338364340MASP2,TARDBPc.1397-36C>A (n.1397-36C>A)
c.820G>T (p.Gly274Ter)
c.768+52G>T (n.768+52G>T)
c.*401G>T (n.*401G>T)
c.119G>T
c.298G>T (p.Gly100Ter)
c.200G>T
c.460G>T (p.Gly154Ter)
c.86G>T
c.221+52G>T
c.561G>T
c.371G>T
c.649G>T (p.Gly217Ter)
c.567G>T
n.942G>T
1g.11022230G>ACA338364341MASP2,TARDBPc.1397-37C>T (n.1397-37C>T)
c.821G>A (p.Gly274Glu)
c.768+53G>A (n.768+53G>A)
c.*402G>A (n.*402G>A)
c.120G>A
c.299G>A (p.Gly100Glu)
c.201G>A
c.461G>A (p.Gly154Glu)
c.87G>A
c.221+53G>A
c.562G>A
c.372G>A
c.650G>A (p.Gly217Glu)
c.568G>A
n.943G>A
1g.11022230G>CCA338364342MASP2,TARDBPc.1397-37C>G (n.1397-37C>G)
c.821G>C (p.Gly274Ala)
c.768+53G>C (n.768+53G>C)
c.*402G>C (n.*402G>C)
c.120G>C
c.299G>C (p.Gly100Ala)
c.201G>C
c.461G>C (p.Gly154Ala)
c.87G>C
c.221+53G>C
c.562G>C
c.372G>C
c.650G>C (p.Gly217Ala)
c.568G>C
n.943G>C
1g.11022230G>TCA338364343MASP2,TARDBPc.1397-37C>A (n.1397-37C>A)
c.821G>T (p.Gly274Val)
c.768+53G>T (n.768+53G>T)
c.*402G>T (n.*402G>T)
c.120G>T
c.299G>T (p.Gly100Val)
c.201G>T
c.461G>T (p.Gly154Val)
c.87G>T
c.221+53G>T
c.562G>T
c.372G>T
c.650G>T (p.Gly217Val)
c.568G>T
n.943G>T
1g.11022231A>CCA415909419MASP2,TARDBPc.1397-38T>G (n.1397-38T>G)
c.822A>C (p.Gly274=)
c.768+54A>C (n.768+54A>C)
c.*403A>C (n.*403A>C)
c.121A>C
c.300A>C (p.Gly100=)
c.202A>C
c.462A>C (p.Gly154=)
c.88A>C
c.221+54A>C
c.563A>C
c.373A>C
c.651A>C (p.Gly217=)
c.569A>C
n.944A>C
1g.11022231A>GCA415909420MASP2,TARDBPc.1397-38T>C (n.1397-38T>C)
c.822A>G (p.Gly274=)
c.768+54A>G (n.768+54A>G)
c.*403A>G (n.*403A>G)
c.121A>G
c.300A>G (p.Gly100=)
c.202A>G
c.462A>G (p.Gly154=)
c.88A>G
c.221+54A>G
c.563A>G
c.373A>G
c.651A>G (p.Gly217=)
c.569A>G
n.944A>G
1g.11022231A>TCA415909421MASP2,TARDBPc.1397-38T>A (n.1397-38T>A)
c.822A>T (p.Gly274=)
c.768+54A>T (n.768+54A>T)
c.*403A>T (n.*403A>T)
c.121A>T
c.300A>T (p.Gly100=)
c.202A>T
c.462A>T (p.Gly154=)
c.88A>T
c.221+54A>T
c.563A>T
c.373A>T
c.651A>T (p.Gly217=)
c.569A>T
n.944A>T

Number of alleles fetched