Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.218584605C>ACA2663139097CNOT9c.321-7C>A (n.321-7C>A)
c.*213-7C>A (n.*213-7C>A)
n.695+1519C>A
c.162-7C>A (n.162-7C>A)
c.159-7C>A (n.159-7C>A)
n.436+1519C>A
 gnomAD v4
2g.218584608C>ACA2663139098CNOT9c.321-4C>A (n.321-4C>A)
c.*213-4C>A (n.*213-4C>A)
n.695+1522C>A
c.162-4C>A (n.162-4C>A)
c.159-4C>A (n.159-4C>A)
n.436+1522C>A
 gnomAD v4
2g.218584609C>ACA2663139099CNOT9c.321-3C>A (n.321-3C>A)
c.*213-3C>A (n.*213-3C>A)
n.695+1523C>A
c.162-3C>A (n.162-3C>A)
c.159-3C>A (n.159-3C>A)
n.436+1523C>A
 gnomAD v4
2g.218584609C>TCA2577244318CNOT9c.321-3C>T (n.321-3C>T)
c.*213-3C>T (n.*213-3C>T)
n.695+1523C>T
c.162-3C>T (n.162-3C>T)
c.159-3C>T (n.159-3C>T)
n.436+1523C>T
 gnomAD v4
2g.218584610A>CCA350568981CNOT9c.321-2A>C (n.321-2A>C)
c.*213-2A>C (n.*213-2A>C)
n.695+1524A>C
c.162-2A>C (n.162-2A>C)
c.159-2A>C (n.159-2A>C)
n.436+1524A>C
2g.218584610A>GCA350568982CNOT9c.321-2A>G (n.321-2A>G)
c.*213-2A>G (n.*213-2A>G)
n.695+1524A>G
c.162-2A>G (n.162-2A>G)
c.159-2A>G (n.159-2A>G)
n.436+1524A>G
2g.218584610A>TCA350568983CNOT9c.321-2A>T (n.321-2A>T)
c.*213-2A>T (n.*213-2A>T)
n.695+1524A>T
c.162-2A>T (n.162-2A>T)
c.159-2A>T (n.159-2A>T)
n.436+1524A>T
2g.218584611_218584612insTGGGAAGAGCA2501733461CNOT9c.321-1_321insTGGGAAGAG (n.321-1_321insTGGGAAGAG)
c.*213-1_*213insTGGGAAGAG (n.*213-1_*213insTGGGAAGAG)
n.695+1525_695+1526insTGGGAAGAG
c.162-1_162insTGGGAAGAG (n.162-1_162insTGGGAAGAG)
c.159-1_159insTGGGAAGAG (n.159-1_159insTGGGAAGAG)
n.436+1525_436+1526insTGGGAAGAG
2g.218584611G>ACA350568984CNOT9c.321-1G>A (n.321-1G>A)
c.*213-1G>A (n.*213-1G>A)
n.695+1525G>A
c.162-1G>A (n.162-1G>A)
c.159-1G>A (n.159-1G>A)
n.436+1525G>A
2g.218584611G>CCA350568985CNOT9c.321-1G>C (n.321-1G>C)
c.*213-1G>C (n.*213-1G>C)
n.695+1525G>C
c.162-1G>C (n.162-1G>C)
c.159-1G>C (n.159-1G>C)
n.436+1525G>C
2g.218584611G>TCA350568986CNOT9c.321-1G>T (n.321-1G>T)
c.*213-1G>T (n.*213-1G>T)
n.695+1525G>T
c.162-1G>T (n.162-1G>T)
c.159-1G>T (n.159-1G>T)
n.436+1525G>T
2g.218584612G>ACA431228358CNOT9c.321G>A (p.Arg107=)
c.*213G>A (n.*213G>A)
n.695+1526G>A
c.162G>A (p.Arg54=)
c.159G>A (p.Arg53=)
n.436+1526G>A
 gnomAD v4
2g.218584612G>CCA350568987CNOT9c.321G>C (p.Arg107Ser)
c.*213G>C (n.*213G>C)
n.695+1526G>C
c.162G>C (p.Arg54Ser)
c.159G>C (p.Arg53Ser)
n.436+1526G>C
2g.218584612G>TCA350568988CNOT9c.321G>T (p.Arg107Ser)
c.*213G>T (n.*213G>T)
n.695+1526G>T
c.162G>T (p.Arg54Ser)
c.159G>T (p.Arg53Ser)
n.436+1526G>T
2g.218584613T>ACA350568989CNOT9c.322T>A (p.Ser108Thr)
c.*214T>A (n.*214T>A)
n.695+1527T>A
c.163T>A (p.Ser55Thr)
c.160T>A (p.Ser54Thr)
n.436+1527T>A
2g.218584613T>CCA350568991CNOT9c.322T>C (p.Ser108Pro)
c.*214T>C (n.*214T>C)
n.695+1527T>C
c.163T>C (p.Ser55Pro)
c.160T>C (p.Ser54Pro)
n.436+1527T>C
2g.218584613T>GCA350568990CNOT9c.322T>G (p.Ser108Ala)
c.*214T>G (n.*214T>G)
n.695+1527T>G
c.163T>G (p.Ser55Ala)
c.160T>G (p.Ser54Ala)
n.436+1527T>G
2g.218584614C>ACA350568992CNOT9c.323C>A (p.Ser108Ter)
c.*215C>A (n.*215C>A)
n.695+1528C>A
c.164C>A (p.Ser55Ter)
c.161C>A (p.Ser54Ter)
n.436+1528C>A
2g.218584614C>GCA350568993CNOT9c.323C>G (p.Ser108Ter)
c.*215C>G (n.*215C>G)
n.695+1528C>G
c.164C>G (p.Ser55Ter)
c.161C>G (p.Ser54Ter)
n.436+1528C>G
2g.218584614C>TCA350568994CNOT9c.323C>T (p.Ser108Leu)
c.*215C>T (n.*215C>T)
n.695+1528C>T
c.164C>T (p.Ser55Leu)
c.161C>T (p.Ser54Leu)
n.436+1528C>T
2g.218584615A>CCA431228367CNOT9c.324A>C (p.Ser108=)
c.*216A>C (n.*216A>C)
n.695+1529A>C
c.165A>C (p.Ser55=)
c.162A>C (p.Ser54=)
n.436+1529A>C
2g.218584615A>GCA431228368CNOT9c.324A>G (p.Ser108=)
c.*216A>G (n.*216A>G)
n.695+1529A>G
c.165A>G (p.Ser55=)
c.162A>G (p.Ser54=)
n.436+1529A>G
 gnomAD v4
2g.218584615A>TCA431228371CNOT9c.324A>T (p.Ser108=)
c.*216A>T (n.*216A>T)
n.695+1529A>T
c.165A>T (p.Ser55=)
c.162A>T (p.Ser54=)
n.436+1529A>T
2g.218584616G>ACA350568995CNOT9c.325G>A (p.Ala109Thr)
c.*217G>A (n.*217G>A)
n.695+1530G>A
c.166G>A (p.Ala56Thr)
c.163G>A (p.Ala55Thr)
n.436+1530G>A
2g.218584616G>CCA350568996CNOT9c.325G>C (p.Ala109Pro)
c.*217G>C (n.*217G>C)
n.695+1530G>C
c.166G>C (p.Ala56Pro)
c.163G>C (p.Ala55Pro)
n.436+1530G>C
2g.218584616G>TCA350568997CNOT9c.325G>T (p.Ala109Ser)
c.*217G>T (n.*217G>T)
n.695+1530G>T
c.166G>T (p.Ala56Ser)
c.163G>T (p.Ala55Ser)
n.436+1530G>T
2g.218584617C>ACA350568998CNOT9c.326C>A (p.Ala109Glu)
c.*218C>A (n.*218C>A)
n.695+1531C>A
c.167C>A (p.Ala56Glu)
c.164C>A (p.Ala55Glu)
n.436+1531C>A
2g.218584617C=CA1328827406CNOT9c.326C= (p.Ala109=)
c.*218C= (n.*218C=)
n.695+1531C=
c.167C= (p.Ala56=)
c.164C= (p.Ala55=)
n.436+1531C=
2g.218584617C>GCA350568999CNOT9c.326C>G (p.Ala109Gly)
c.*218C>G (n.*218C>G)
n.695+1531C>G
c.167C>G (p.Ala56Gly)
c.164C>G (p.Ala55Gly)
n.436+1531C>G
2g.218584617C>TCA2107691CNOT9c.326C>T (p.Ala109Val)
c.*218C>T (n.*218C>T)
n.695+1531C>T
c.167C>T (p.Ala56Val)
c.164C>T (p.Ala55Val)
n.436+1531C>T
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2g.218584618G>ACA2107692CNOT9c.327G>A (p.Ala109=)
c.*219G>A (n.*219G>A)
n.695+1532G>A
c.168G>A (p.Ala56=)
c.165G>A (p.Ala55=)
n.436+1532G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.218584618G>CCA431228378CNOT9c.327G>C (p.Ala109=)
c.*219G>C (n.*219G>C)
n.695+1532G>C
c.168G>C (p.Ala56=)
c.165G>C (p.Ala55=)
n.436+1532G>C
2g.218584618G=CA1328827407CNOT9c.327G= (p.Ala109=)
c.*219G= (n.*219G=)
n.695+1532G=
c.168G= (p.Ala56=)
c.165G= (p.Ala55=)
n.436+1532G=
2g.218584618G>TCA431228379CNOT9c.327G>T (p.Ala109=)
c.*219G>T (n.*219G>T)
n.695+1532G>T
c.168G>T (p.Ala56=)
c.165G>T (p.Ala55=)
n.436+1532G>T
2g.218584619T>ACA350569001CNOT9c.328T>A (p.Phe110Ile)
c.*220T>A (n.*220T>A)
n.695+1533T>A
c.169T>A (p.Phe57Ile)
c.166T>A (p.Phe56Ile)
n.436+1533T>A
2g.218584619T>CCA350569002CNOT9c.328T>C (p.Phe110Leu)
c.*220T>C (n.*220T>C)
n.695+1533T>C
c.169T>C (p.Phe57Leu)
c.166T>C (p.Phe56Leu)
n.436+1533T>C
2g.218584619T>GCA350569000CNOT9c.328T>G (p.Phe110Val)
c.*220T>G (n.*220T>G)
n.695+1533T>G
c.169T>G (p.Phe57Val)
c.166T>G (p.Phe56Val)
n.436+1533T>G
2g.218584620T>ACA350569003CNOT9c.329T>A (p.Phe110Tyr)
c.*221T>A (n.*221T>A)
n.695+1534T>A
c.170T>A (p.Phe57Tyr)
c.167T>A (p.Phe56Tyr)
n.436+1534T>A
2g.218584620T>CCA350569004CNOT9c.329T>C (p.Phe110Ser)
c.*221T>C (n.*221T>C)
n.695+1534T>C
c.170T>C (p.Phe57Ser)
c.167T>C (p.Phe56Ser)
n.436+1534T>C
2g.218584620T>GCA350569005CNOT9c.329T>G (p.Phe110Cys)
c.*221T>G (n.*221T>G)
n.695+1534T>G
c.170T>G (p.Phe57Cys)
c.167T>G (p.Phe56Cys)
n.436+1534T>G
2g.218584621T>ACA350569006CNOT9c.330T>A (p.Phe110Leu)
c.*222T>A (n.*222T>A)
n.695+1535T>A
c.171T>A (p.Phe57Leu)
c.168T>A (p.Phe56Leu)
n.436+1535T>A
2g.218584621T>CCA431228383CNOT9c.330T>C (p.Phe110=)
c.*222T>C (n.*222T>C)
n.695+1535T>C
c.171T>C (p.Phe57=)
c.168T>C (p.Phe56=)
n.436+1535T>C
2g.218584621T>GCA350569007CNOT9c.330T>G (p.Phe110Leu)
c.*222T>G (n.*222T>G)
n.695+1535T>G
c.171T>G (p.Phe57Leu)
c.168T>G (p.Phe56Leu)
n.436+1535T>G
2g.218584622C>ACA350569008CNOT9c.331C>A (p.Leu111Ile)
c.*223C>A (n.*223C>A)
n.695+1536C>A
c.172C>A (p.Leu58Ile)
c.169C>A (p.Leu57Ile)
n.436+1536C>A
 gnomAD v4
2g.218584622C>GCA350569009CNOT9c.331C>G (p.Leu111Val)
c.*223C>G (n.*223C>G)
n.695+1536C>G
c.172C>G (p.Leu58Val)
c.169C>G (p.Leu57Val)
n.436+1536C>G
2g.218584622C>TCA350569010CNOT9c.331C>T (p.Leu111Phe)
c.*223C>T (n.*223C>T)
n.695+1536C>T
c.172C>T (p.Leu58Phe)
c.169C>T (p.Leu57Phe)
n.436+1536C>T
 COSMIC
2g.218584623T>ACA350569011CNOT9c.332T>A (p.Leu111His)
c.*224T>A (n.*224T>A)
n.695+1537T>A
c.173T>A (p.Leu58His)
c.170T>A (p.Leu57His)
n.436+1537T>A
2g.218584623T>CCA350569012CNOT9c.332T>C (p.Leu111Pro)
c.*224T>C (n.*224T>C)
n.695+1537T>C
c.173T>C (p.Leu58Pro)
c.170T>C (p.Leu57Pro)
n.436+1537T>C
2g.218584623T>GCA350569013CNOT9c.332T>G (p.Leu111Arg)
c.*224T>G (n.*224T>G)
n.695+1537T>G
c.173T>G (p.Leu58Arg)
c.170T>G (p.Leu57Arg)
n.436+1537T>G
2g.218584624C>ACA65779119CNOT9c.333C>A (p.Leu111=)
c.*225C>A (n.*225C>A)
n.695+1538C>A
c.174C>A (p.Leu58=)
c.171C>A (p.Leu57=)
n.436+1538C>A
 dbSNP gnomAD v4
2g.218584624C=CA1328827408CNOT9c.333C= (p.Leu111=)
c.*225C= (n.*225C=)
n.695+1538C=
c.174C= (p.Leu58=)
c.171C= (p.Leu57=)
n.436+1538C=
2g.218584624C>GCA431228389CNOT9c.333C>G (p.Leu111=)
c.*225C>G (n.*225C>G)
n.695+1538C>G
c.174C>G (p.Leu58=)
c.171C>G (p.Leu57=)
n.436+1538C>G
2g.218584624C>TCA2107693CNOT9c.333C>T (p.Leu111=)
c.*225C>T (n.*225C>T)
n.695+1538C>T
c.174C>T (p.Leu58=)
c.171C>T (p.Leu57=)
n.436+1538C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.218584625G>ACA2107694CNOT9c.334G>A (p.Ala112Thr)
c.*226G>A (n.*226G>A)
n.695+1539G>A
c.175G>A (p.Ala59Thr)
c.172G>A (p.Ala58Thr)
n.436+1539G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.218584625G>CCA350569015CNOT9c.334G>C (p.Ala112Pro)
c.*226G>C (n.*226G>C)
n.695+1539G>C
c.175G>C (p.Ala59Pro)
c.172G>C (p.Ala58Pro)
n.436+1539G>C
2g.218584625G=CA1328827409CNOT9c.334G= (p.Ala112=)
c.*226G= (n.*226G=)
n.695+1539G=
c.175G= (p.Ala59=)
c.172G= (p.Ala58=)
n.436+1539G=
2g.218584625G>TCA350569014CNOT9c.334G>T (p.Ala112Ser)
c.*226G>T (n.*226G>T)
n.695+1539G>T
c.175G>T (p.Ala59Ser)
c.172G>T (p.Ala58Ser)
n.436+1539G>T
 dbSNP gnomAD v2 gnomAD v4
2g.218584626C>ACA350569016CNOT9c.335C>A (p.Ala112Glu)
c.*227C>A (n.*227C>A)
n.695+1540C>A
c.176C>A (p.Ala59Glu)
c.173C>A (p.Ala58Glu)
n.436+1540C>A
2g.218584626C>GCA350569017CNOT9c.335C>G (p.Ala112Gly)
c.*227C>G (n.*227C>G)
n.695+1540C>G
c.176C>G (p.Ala59Gly)
c.173C>G (p.Ala58Gly)
n.436+1540C>G
2g.218584626C>TCA350569018CNOT9c.335C>T (p.Ala112Val)
c.*227C>T (n.*227C>T)
n.695+1540C>T
c.176C>T (p.Ala59Val)
c.173C>T (p.Ala58Val)
n.436+1540C>T
2g.218584627A>CCA431228395CNOT9c.336A>C (p.Ala112=)
c.*228A>C (n.*228A>C)
n.695+1541A>C
c.177A>C (p.Ala59=)
c.174A>C (p.Ala58=)
n.436+1541A>C
2g.218584627A>GCA431228398CNOT9c.336A>G (p.Ala112=)
c.*228A>G (n.*228A>G)
n.695+1541A>G
c.177A>G (p.Ala59=)
c.174A>G (p.Ala58=)
n.436+1541A>G
2g.218584627A>TCA431228396CNOT9c.336A>T (p.Ala112=)
c.*228A>T (n.*228A>T)
n.695+1541A>T
c.177A>T (p.Ala59=)
c.174A>T (p.Ala58=)
n.436+1541A>T
2g.218584628G>ACA350569019CNOT9c.337G>A (p.Ala113Thr)
c.*229G>A (n.*229G>A)
n.695+1542G>A
c.178G>A (p.Ala60Thr)
c.175G>A (p.Ala59Thr)
n.436+1542G>A
2g.218584628G>CCA350569020CNOT9c.337G>C (p.Ala113Pro)
c.*229G>C (n.*229G>C)
n.695+1542G>C
c.178G>C (p.Ala60Pro)
c.175G>C (p.Ala59Pro)
n.436+1542G>C
2g.218584628G>TCA350569021CNOT9c.337G>T (p.Ala113Ser)
c.*229G>T (n.*229G>T)
n.695+1542G>T
c.178G>T (p.Ala60Ser)
c.175G>T (p.Ala59Ser)
n.436+1542G>T
2g.218584629C>ACA350569024CNOT9c.338C>A (p.Ala113Glu)
c.*230C>A (n.*230C>A)
n.695+1543C>A
c.179C>A (p.Ala60Glu)
c.176C>A (p.Ala59Glu)
n.436+1543C>A
2g.218584629C>GCA350569022CNOT9c.338C>G (p.Ala113Gly)
c.*230C>G (n.*230C>G)
n.695+1543C>G
c.179C>G (p.Ala60Gly)
c.176C>G (p.Ala59Gly)
n.436+1543C>G
2g.218584629C>TCA350569023CNOT9c.338C>T (p.Ala113Val)
c.*230C>T (n.*230C>T)
n.695+1543C>T
c.179C>T (p.Ala60Val)
c.176C>T (p.Ala59Val)
n.436+1543C>T
2g.218584630A=CA1328827410CNOT9c.339A= (p.Ala113=)
c.*231A= (n.*231A=)
n.695+1544A=
c.180A= (p.Ala60=)
c.177A= (p.Ala59=)
n.436+1544A=
2g.218584630A>CCA431228404CNOT9c.339A>C (p.Ala113=)
c.*231A>C (n.*231A>C)
n.695+1544A>C
c.180A>C (p.Ala60=)
c.177A>C (p.Ala59=)
n.436+1544A>C
 gnomAD v4
2g.218584630A>GCA431228406CNOT9c.339A>G (p.Ala113=)
c.*231A>G (n.*231A>G)
n.695+1544A>G
c.180A>G (p.Ala60=)
c.177A>G (p.Ala59=)
n.436+1544A>G
 gnomAD v4
2g.218584630A>TCA431228407CNOT9c.339A>T (p.Ala113=)
c.*231A>T (n.*231A>T)
n.695+1544A>T
c.180A>T (p.Ala60=)
c.177A>T (p.Ala59=)
n.436+1544A>T
 dbSNP gnomAD v3 gnomAD v4
2g.218584631C>ACA350569025CNOT9c.340C>A (p.His114Asn)
c.*232C>A (n.*232C>A)
n.695+1545C>A
c.181C>A (p.His61Asn)
c.178C>A (p.His60Asn)
n.436+1545C>A
2g.218584631C>GCA350569026CNOT9c.340C>G (p.His114Asp)
c.*232C>G (n.*232C>G)
n.695+1545C>G
c.181C>G (p.His61Asp)
c.178C>G (p.His60Asp)
n.436+1545C>G
2g.218584631C>TCA350569027CNOT9c.340C>T (p.His114Tyr)
c.*232C>T (n.*232C>T)
n.695+1545C>T
c.181C>T (p.His61Tyr)
c.178C>T (p.His60Tyr)
n.436+1545C>T
2g.218584632A>CCA350569028CNOT9c.341A>C (p.His114Pro)
c.*233A>C (n.*233A>C)
n.695+1546A>C
c.182A>C (p.His61Pro)
c.179A>C (p.His60Pro)
n.436+1546A>C
2g.218584632A>GCA350569029CNOT9c.341A>G (p.His114Arg)
c.*233A>G (n.*233A>G)
n.695+1546A>G
c.182A>G (p.His61Arg)
c.179A>G (p.His60Arg)
n.436+1546A>G
2g.218584632A>TCA350569030CNOT9c.341A>T (p.His114Leu)
c.*233A>T (n.*233A>T)
n.695+1546A>T
c.182A>T (p.His61Leu)
c.179A>T (p.His60Leu)
n.436+1546A>T
2g.218584633C>ACA350569031CNOT9c.342C>A (p.His114Gln)
c.*234C>A (n.*234C>A)
n.695+1547C>A
c.183C>A (p.His61Gln)
c.180C>A (p.His60Gln)
n.436+1547C>A
2g.218584633C>GCA350569032CNOT9c.342C>G (p.His114Gln)
c.*234C>G (n.*234C>G)
n.695+1547C>G
c.183C>G (p.His61Gln)
c.180C>G (p.His60Gln)
n.436+1547C>G
2g.218584633C>TCA431228411CNOT9c.342C>T (p.His114=)
c.*234C>T (n.*234C>T)
n.695+1547C>T
c.183C>T (p.His61=)
c.180C>T (p.His60=)
n.436+1547C>T
 gnomAD v4
2g.218584634A=CA1328827411CNOT9c.343A= (p.Ile115=)
c.*235A= (n.*235A=)
n.695+1548A=
c.184A= (p.Ile62=)
c.181A= (p.Ile61=)
n.436+1548A=
2g.218584634A>CCA350569033CNOT9c.343A>C (p.Ile115Leu)
c.*235A>C (n.*235A>C)
n.695+1548A>C
c.184A>C (p.Ile62Leu)
c.181A>C (p.Ile61Leu)
n.436+1548A>C
2g.218584634A>GCA350569035CNOT9c.343A>G (p.Ile115Val)
c.*235A>G (n.*235A>G)
n.695+1548A>G
c.184A>G (p.Ile62Val)
c.181A>G (p.Ile61Val)
n.436+1548A>G
 dbSNP gnomAD v2 gnomAD v4
2g.218584634A>TCA350569034CNOT9c.343A>T (p.Ile115Phe)
c.*235A>T (n.*235A>T)
n.695+1548A>T
c.184A>T (p.Ile62Phe)
c.181A>T (p.Ile61Phe)
n.436+1548A>T
2g.218584635T>ACA350569036CNOT9c.344T>A (p.Ile115Asn)
c.*236T>A (n.*236T>A)
n.695+1549T>A
c.185T>A (p.Ile62Asn)
c.182T>A (p.Ile61Asn)
n.436+1549T>A
2g.218584635T>CCA350569037CNOT9c.344T>C (p.Ile115Thr)
c.*236T>C (n.*236T>C)
n.695+1549T>C
c.185T>C (p.Ile62Thr)
c.182T>C (p.Ile61Thr)
n.436+1549T>C
2g.218584635T>GCA350569038CNOT9c.344T>G (p.Ile115Ser)
c.*236T>G (n.*236T>G)
n.695+1549T>G
c.185T>G (p.Ile62Ser)
c.182T>G (p.Ile61Ser)
n.436+1549T>G
2g.218584636C>ACA431228420CNOT9c.345C>A (p.Ile115=)
c.*237C>A (n.*237C>A)
n.695+1550C>A
c.186C>A (p.Ile62=)
c.183C>A (p.Ile61=)
n.436+1550C>A
 dbSNP gnomAD v4
2g.218584636C=CA1328827412CNOT9c.345C= (p.Ile115=)
c.*237C= (n.*237C=)
n.695+1550C=
c.186C= (p.Ile62=)
c.183C= (p.Ile61=)
n.436+1550C=
2g.218584636C>GCA350569039CNOT9c.345C>G (p.Ile115Met)
c.*237C>G (n.*237C>G)
n.695+1550C>G
c.186C>G (p.Ile62Met)
c.183C>G (p.Ile61Met)
n.436+1550C>G
2g.218584636C>TCA431228421CNOT9c.345C>T (p.Ile115=)
c.*237C>T (n.*237C>T)
n.695+1550C>T
c.186C>T (p.Ile62=)
c.183C>T (p.Ile61=)
n.436+1550C>T
2g.218584637C>ACA350569040CNOT9c.346C>A (p.Pro116Thr)
c.*238C>A (n.*238C>A)
n.695+1551C>A
c.187C>A (p.Pro63Thr)
c.184C>A (p.Pro62Thr)
n.436+1551C>A
2g.218584637C>GCA350569041CNOT9c.346C>G (p.Pro116Ala)
c.*238C>G (n.*238C>G)
n.695+1551C>G
c.187C>G (p.Pro63Ala)
c.184C>G (p.Pro62Ala)
n.436+1551C>G
2g.218584637C>TCA350569042CNOT9c.346C>T (p.Pro116Ser)
c.*238C>T (n.*238C>T)
n.695+1551C>T
c.187C>T (p.Pro63Ser)
c.184C>T (p.Pro62Ser)
n.436+1551C>T
2g.218584638C>ACA350569043CNOT9c.347C>A (p.Pro116Gln)
c.*239C>A (n.*239C>A)
n.695+1552C>A
c.188C>A (p.Pro63Gln)
c.185C>A (p.Pro62Gln)
n.436+1552C>A
2g.218584638C>GCA350569044CNOT9c.347C>G (p.Pro116Arg)
c.*239C>G (n.*239C>G)
n.695+1552C>G
c.188C>G (p.Pro63Arg)
c.185C>G (p.Pro62Arg)
n.436+1552C>G
2g.218584638C>TCA350569045CNOT9c.347C>T (p.Pro116Leu)
c.*239C>T (n.*239C>T)
n.695+1552C>T
c.188C>T (p.Pro63Leu)
c.185C>T (p.Pro62Leu)
n.436+1552C>T
2g.218584639A>CCA431228428CNOT9c.348A>C (p.Pro116=)
c.*240A>C (n.*240A>C)
n.695+1553A>C
c.189A>C (p.Pro63=)
c.186A>C (p.Pro62=)
n.436+1553A>C
2g.218584639A>GCA431228429CNOT9c.348A>G (p.Pro116=)
c.*240A>G (n.*240A>G)
n.695+1553A>G
c.189A>G (p.Pro63=)
c.186A>G (p.Pro62=)
n.436+1553A>G
2g.218584639A>TCA431228431CNOT9c.348A>T (p.Pro116=)
c.*240A>T (n.*240A>T)
n.695+1553A>T
c.189A>T (p.Pro63=)
c.186A>T (p.Pro62=)
n.436+1553A>T
2g.218584640C>ACA350569046CNOT9c.349C>A (p.Leu117Ile)
c.*241C>A (n.*241C>A)
n.695+1554C>A
c.190C>A (p.Leu64Ile)
c.187C>A (p.Leu63Ile)
n.436+1554C>A
2g.218584640C>GCA350569047CNOT9c.349C>G (p.Leu117Val)
c.*241C>G (n.*241C>G)
n.695+1554C>G
c.190C>G (p.Leu64Val)
c.187C>G (p.Leu63Val)
n.436+1554C>G
2g.218584640C>TCA350569048CNOT9c.349C>T (p.Leu117Phe)
c.*241C>T (n.*241C>T)
n.695+1554C>T
c.190C>T (p.Leu64Phe)
c.187C>T (p.Leu63Phe)
n.436+1554C>T
2g.218584640_218584641delinsCTCA1328827413CNOT9c.349_350delinsCT (p.Leu117=)
c.*241_*242delinsCT (n.*241_*242delinsCT)
n.695+1554_695+1555delinsCT
c.190_191delinsCT (p.Leu64=)
c.187_188delinsCT (p.Leu63=)
n.436+1554_436+1555delinsCT
2g.218584641T>ACA350569049CNOT9c.350T>A (p.Leu117His)
c.*242T>A (n.*242T>A)
n.695+1555T>A
c.191T>A (p.Leu64His)
c.188T>A (p.Leu63His)
n.436+1555T>A
2g.218584641T>CCA350569051CNOT9c.350T>C (p.Leu117Pro)
c.*242T>C (n.*242T>C)
n.695+1555T>C
c.191T>C (p.Leu64Pro)
c.188T>C (p.Leu63Pro)
n.436+1555T>C
2g.218584641T>GCA350569050CNOT9c.350T>G (p.Leu117Arg)
c.*242T>G (n.*242T>G)
n.695+1555T>G
c.191T>G (p.Leu64Arg)
c.188T>G (p.Leu63Arg)
n.436+1555T>G
2g.218584647dupCA645517061CNOT9c.356dup (p.Leu119PhefsTer15)
c.*248dup (n.*248dup)
n.695+1561dup
c.197dup (p.Leu66PhefsTer15)
c.194dup (p.Leu65PhefsTer15)
n.436+1561dup
 gnomAD v4 COSMIC
2g.218584647delCA431228434CNOT9c.356del (p.Leu119CysfsTer29)
c.*248del (n.*248del)
c.356del (p.Leu119CysfsTer26)
n.695+1561del
c.197del (p.Leu66CysfsTer29)
c.194del (p.Leu65CysfsTer29)
n.436+1561del
 dbSNP gnomAD v4 COSMIC
2g.218584642T>ACA431228438CNOT9c.351T>A (p.Leu117=)
c.*243T>A (n.*243T>A)
n.695+1556T>A
c.192T>A (p.Leu64=)
c.189T>A (p.Leu63=)
n.436+1556T>A
2g.218584642T>CCA431228437CNOT9c.351T>C (p.Leu117=)
c.*243T>C (n.*243T>C)
n.695+1556T>C
c.192T>C (p.Leu64=)
c.189T>C (p.Leu63=)
n.436+1556T>C
2g.218584642T>GCA431228436CNOT9c.351T>G (p.Leu117=)
c.*243T>G (n.*243T>G)
n.695+1556T>G
c.192T>G (p.Leu64=)
c.189T>G (p.Leu63=)
n.436+1556T>G
2g.218584643T>ACA350569052CNOT9c.352T>A (p.Phe118Ile)
c.*244T>A (n.*244T>A)
n.695+1557T>A
c.193T>A (p.Phe65Ile)
c.190T>A (p.Phe64Ile)
n.436+1557T>A
2g.218584643T>CCA350569053CNOT9c.352T>C (p.Phe118Leu)
c.*244T>C (n.*244T>C)
n.695+1557T>C
c.193T>C (p.Phe65Leu)
c.190T>C (p.Phe64Leu)
n.436+1557T>C
 gnomAD v4
2g.218584643T>GCA350569054CNOT9c.352T>G (p.Phe118Val)
c.*244T>G (n.*244T>G)
n.695+1557T>G
c.193T>G (p.Phe65Val)
c.190T>G (p.Phe64Val)
n.436+1557T>G
2g.218584644T>ACA350569055CNOT9c.353T>A (p.Phe118Tyr)
c.*245T>A (n.*245T>A)
n.695+1558T>A
c.194T>A (p.Phe65Tyr)
c.191T>A (p.Phe64Tyr)
n.436+1558T>A
2g.218584644T>CCA350569056CNOT9c.353T>C (p.Phe118Ser)
c.*245T>C (n.*245T>C)
n.695+1558T>C
c.194T>C (p.Phe65Ser)
c.191T>C (p.Phe64Ser)
n.436+1558T>C
 gnomAD v4
2g.218584644T>GCA65779145CNOT9c.353T>G (p.Phe118Cys)
c.*245T>G (n.*245T>G)
n.695+1558T>G
c.194T>G (p.Phe65Cys)
c.191T>G (p.Phe64Cys)
n.436+1558T>G
 dbSNP
2g.218584644T=CA1328827414CNOT9c.353T= (p.Phe118=)
c.*245T= (n.*245T=)
n.695+1558T=
c.194T= (p.Phe65=)
c.191T= (p.Phe64=)
n.436+1558T=
2g.218584645T>ACA350569057CNOT9c.354T>A (p.Phe118Leu)
c.*246T>A (n.*246T>A)
n.695+1559T>A
c.195T>A (p.Phe65Leu)
c.192T>A (p.Phe64Leu)
n.436+1559T>A
2g.218584645T>CCA431228440CNOT9c.354T>C (p.Phe118=)
c.*246T>C (n.*246T>C)
n.695+1559T>C
c.195T>C (p.Phe65=)
c.192T>C (p.Phe64=)
n.436+1559T>C
2g.218584645T>GCA350569058CNOT9c.354T>G (p.Phe118Leu)
c.*246T>G (n.*246T>G)
n.695+1559T>G
c.195T>G (p.Phe65Leu)
c.192T>G (p.Phe64Leu)
n.436+1559T>G
2g.218584646T>ACA350569059CNOT9c.355T>A (p.Leu119Met)
c.*247T>A (n.*247T>A)
n.695+1560T>A
c.196T>A (p.Leu66Met)
c.193T>A (p.Leu65Met)
n.436+1560T>A
2g.218584646T>CCA431228441CNOT9c.355T>C (p.Leu119=)
c.*247T>C (n.*247T>C)
n.695+1560T>C
c.196T>C (p.Leu66=)
c.193T>C (p.Leu65=)
n.436+1560T>C
2g.218584646T>GCA350569060CNOT9c.355T>G (p.Leu119Val)
c.*247T>G (n.*247T>G)
n.695+1560T>G
c.196T>G (p.Leu66Val)
c.193T>G (p.Leu65Val)
n.436+1560T>G
2g.218584647T>ACA350569063CNOT9c.356T>A (p.Leu119Ter)
c.*248T>A (n.*248T>A)
n.695+1561T>A
c.197T>A (p.Leu66Ter)
c.194T>A (p.Leu65Ter)
n.436+1561T>A
2g.218584647T>CCA350569062CNOT9c.356T>C (p.Leu119Ser)
c.*248T>C (n.*248T>C)
n.695+1561T>C
c.197T>C (p.Leu66Ser)
c.194T>C (p.Leu65Ser)
n.436+1561T>C
2g.218584647T>GCA350569061CNOT9c.356T>G (p.Leu119Trp)
c.*248T>G (n.*248T>G)
n.695+1561T>G
c.197T>G (p.Leu66Trp)
c.194T>G (p.Leu65Trp)
n.436+1561T>G
2g.218584648G>ACA431228442CNOT9c.357G>A (p.Leu119=)
c.*249G>A (n.*249G>A)
n.695+1562G>A
c.198G>A (p.Leu66=)
c.195G>A (p.Leu65=)
n.436+1562G>A
2g.218584648G>CCA350569065CNOT9c.357G>C (p.Leu119Phe)
c.*249G>C (n.*249G>C)
n.695+1562G>C
c.198G>C (p.Leu66Phe)
c.195G>C (p.Leu65Phe)
n.436+1562G>C
2g.218584648G>TCA350569064CNOT9c.357G>T (p.Leu119Phe)
c.*249G>T (n.*249G>T)
n.695+1562G>T
c.198G>T (p.Leu66Phe)
c.195G>T (p.Leu65Phe)
n.436+1562G>T
2g.218584649T>ACA350569066CNOT9c.358T>A (p.Tyr120Asn)
c.*250T>A (n.*250T>A)
n.695+1563T>A
c.199T>A (p.Tyr67Asn)
c.196T>A (p.Tyr66Asn)
n.436+1563T>A
2g.218584649T>CCA350569067CNOT9c.358T>C (p.Tyr120His)
c.*250T>C (n.*250T>C)
n.695+1563T>C
c.199T>C (p.Tyr67His)
c.196T>C (p.Tyr66His)
n.436+1563T>C
2g.218584649T>GCA350569068CNOT9c.358T>G (p.Tyr120Asp)
c.*250T>G (n.*250T>G)
n.695+1563T>G
c.199T>G (p.Tyr67Asp)
c.196T>G (p.Tyr66Asp)
n.436+1563T>G
2g.218584650A>CCA350569069CNOT9c.359A>C (p.Tyr120Ser)
c.*251A>C (n.*251A>C)
n.695+1564A>C
c.200A>C (p.Tyr67Ser)
c.197A>C (p.Tyr66Ser)
n.436+1564A>C
2g.218584650A>GCA350569070CNOT9c.359A>G (p.Tyr120Cys)
c.*251A>G (n.*251A>G)
n.695+1564A>G
c.200A>G (p.Tyr67Cys)
c.197A>G (p.Tyr66Cys)
n.436+1564A>G
2g.218584650A>TCA350569071CNOT9c.359A>T (p.Tyr120Phe)
c.*251A>T (n.*251A>T)
n.695+1564A>T
c.200A>T (p.Tyr67Phe)
c.197A>T (p.Tyr66Phe)
n.436+1564A>T
2g.218584651C>ACA350569072CNOT9c.360C>A (p.Tyr120Ter)
c.*252C>A (n.*252C>A)
n.695+1565C>A
c.201C>A (p.Tyr67Ter)
c.198C>A (p.Tyr66Ter)
n.436+1565C>A
2g.218584651C=CA1328827415CNOT9c.360C= (p.Tyr120=)
c.*252C= (n.*252C=)
n.695+1565C=
c.201C= (p.Tyr67=)
c.198C= (p.Tyr66=)
n.436+1565C=
2g.218584651C>GCA350569073CNOT9c.360C>G (p.Tyr120Ter)
c.*252C>G (n.*252C>G)
n.695+1565C>G
c.201C>G (p.Tyr67Ter)
c.198C>G (p.Tyr66Ter)
n.436+1565C>G
2g.218584651C>TCA431228443CNOT9c.360C>T (p.Tyr120=)
c.*252C>T (n.*252C>T)
n.695+1565C>T
c.201C>T (p.Tyr67=)
c.198C>T (p.Tyr66=)
n.436+1565C>T
 dbSNP
2g.218584652C>ACA350569074CNOT9c.361C>A (p.Pro121Thr)
c.*253C>A (n.*253C>A)
n.695+1566C>A
c.202C>A (p.Pro68Thr)
c.199C>A (p.Pro67Thr)
n.436+1566C>A
2g.218584652C>GCA350569075CNOT9c.361C>G (p.Pro121Ala)
c.*253C>G (n.*253C>G)
n.695+1566C>G
c.202C>G (p.Pro68Ala)
c.199C>G (p.Pro67Ala)
n.436+1566C>G
2g.218584652C>TCA350569076CNOT9c.361C>T (p.Pro121Ser)
c.*253C>T (n.*253C>T)
n.695+1566C>T
c.202C>T (p.Pro68Ser)
c.199C>T (p.Pro67Ser)
n.436+1566C>T
2g.218584653C>ACA350569078CNOT9c.362C>A (p.Pro121His)
c.*254C>A (n.*254C>A)
n.695+1567C>A
c.203C>A (p.Pro68His)
c.200C>A (p.Pro67His)
n.436+1567C>A
2g.218584653C>GCA350569079CNOT9c.362C>G (p.Pro121Arg)
c.*254C>G (n.*254C>G)
n.695+1567C>G
c.203C>G (p.Pro68Arg)
c.200C>G (p.Pro67Arg)
n.436+1567C>G
2g.218584653C>TCA350569077CNOT9c.362C>T (p.Pro121Leu)
c.*254C>T (n.*254C>T)
n.695+1567C>T
c.203C>T (p.Pro68Leu)
c.200C>T (p.Pro67Leu)
n.436+1567C>T
2g.218584654C>ACA431228446CNOT9c.363C>A (p.Pro121=)
c.*255C>A (n.*255C>A)
n.695+1568C>A
c.204C>A (p.Pro68=)
c.201C>A (p.Pro67=)
n.436+1568C>A
2g.218584654C=CA1328827416CNOT9c.363C= (p.Pro121=)
c.*255C= (n.*255C=)
n.695+1568C=
c.204C= (p.Pro68=)
c.201C= (p.Pro67=)
n.436+1568C=
2g.218584654C>GCA431228445CNOT9c.363C>G (p.Pro121=)
c.*255C>G (n.*255C>G)
n.695+1568C>G
c.204C>G (p.Pro68=)
c.201C>G (p.Pro67=)
n.436+1568C>G
2g.218584654C>TCA2107695CNOT9c.363C>T (p.Pro121=)
c.*255C>T (n.*255C>T)
n.695+1568C>T
c.204C>T (p.Pro68=)
c.201C>T (p.Pro67=)
n.436+1568C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.218584655T>ACA350569080CNOT9c.364T>A (p.Phe122Ile)
c.*256T>A (n.*256T>A)
n.695+1569T>A
c.205T>A (p.Phe69Ile)
c.202T>A (p.Phe68Ile)
n.436+1569T>A
2g.218584655T>CCA350569081CNOT9c.364T>C (p.Phe122Leu)
c.*256T>C (n.*256T>C)
n.695+1569T>C
c.205T>C (p.Phe69Leu)
c.202T>C (p.Phe68Leu)
n.436+1569T>C
2g.218584655T>GCA350569082CNOT9c.364T>G (p.Phe122Val)
c.*256T>G (n.*256T>G)
n.695+1569T>G
c.205T>G (p.Phe69Val)
c.202T>G (p.Phe68Val)
n.436+1569T>G
2g.218584655_218584656insGTGTAAGGCACTGACCTTACACAGCTTTAGAGAAATTACTAAGAAAATTACCA1042472623CNOT9c.364_365insGTGTAAGGCACTGACCTTACACAGCTTTAGAGAAATTACTAAGAAAATTAC (p.Phe122CysfsTer5)
c.*256_*257insGTGTAAGGCACTGACCTTACACAGCTTTAGAGAAATTACTAAGAAAATTAC (n.*256_*257insGTGTAAGGCACTGACCTTACACAGCTTTAGAGAAATTACTAAGAAAATTAC)
n.695+1569_695+1570insGTGTAAGGCACTGACCTTACACAGCTTTAGAGAAATTACTAAGAAAATTAC
c.205_206insGTGTAAGGCACTGACCTTACACAGCTTTAGAGAAATTACTAAGAAAATTAC (p.Phe69CysfsTer5)
c.202_203insGTGTAAGGCACTGACCTTACACAGCTTTAGAGAAATTACTAAGAAAATTAC (p.Phe68CysfsTer5)
n.436+1569_436+1570insGTGTAAGGCACTGACCTTACACAGCTTTAGAGAAATTACTAAGAAAATTAC
 gnomAD v3 gnomAD v4
2g.218584656T>ACA350569085CNOT9c.365T>A (p.Phe122Tyr)
c.*257T>A (n.*257T>A)
n.695+1570T>A
c.206T>A (p.Phe69Tyr)
c.203T>A (p.Phe68Tyr)
n.436+1570T>A
2g.218584656T>CCA350569084CNOT9c.365T>C (p.Phe122Ser)
c.*257T>C (n.*257T>C)
n.695+1570T>C
c.206T>C (p.Phe69Ser)
c.203T>C (p.Phe68Ser)
n.436+1570T>C
2g.218584656T>GCA350569083CNOT9c.365T>G (p.Phe122Cys)
c.*257T>G (n.*257T>G)
n.695+1570T>G
c.206T>G (p.Phe69Cys)
c.203T>G (p.Phe68Cys)
n.436+1570T>G
2g.218584657T>ACA350569086CNOT9c.366T>A (p.Phe122Leu)
n.695+1571T>A
c.207T>A (p.Phe69Leu)
c.204T>A (p.Phe68Leu)
n.436+1571T>A
2g.218584657T>CCA431228447CNOT9c.366T>C (p.Phe122=)
n.695+1571T>C
c.207T>C (p.Phe69=)
c.204T>C (p.Phe68=)
n.436+1571T>C
2g.218584657T>GCA350569087CNOT9c.366T>G (p.Phe122Leu)
n.695+1571T>G
c.207T>G (p.Phe69Leu)
c.204T>G (p.Phe68Leu)
n.436+1571T>G
2g.218584658T>ACA350569088CNOT9c.367T>A (p.Leu123Met)
n.695+1572T>A
c.208T>A (p.Leu70Met)
c.205T>A (p.Leu69Met)
n.436+1572T>A
2g.218584658T>CCA431228448CNOT9c.367T>C (p.Leu123=)
n.695+1572T>C
c.208T>C (p.Leu70=)
c.205T>C (p.Leu69=)
n.436+1572T>C
2g.218584658T>GCA350569089CNOT9c.367T>G (p.Leu123Val)
n.695+1572T>G
c.208T>G (p.Leu70Val)
c.205T>G (p.Leu69Val)
n.436+1572T>G
2g.218584659T>ACA350569090CNOT9c.368T>A (p.Leu123Ter)
n.695+1573T>A
c.209T>A (p.Leu70Ter)
c.206T>A (p.Leu69Ter)
n.436+1573T>A
2g.218584659T>CCA350569091CNOT9c.368T>C (p.Leu123Ser)
n.695+1573T>C
c.209T>C (p.Leu70Ser)
c.206T>C (p.Leu69Ser)
n.436+1573T>C
2g.218584659T>GCA350569092CNOT9c.368T>G (p.Leu123Trp)
n.695+1573T>G
c.209T>G (p.Leu70Trp)
c.206T>G (p.Leu69Trp)
n.436+1573T>G
2g.218584660G>ACA2107696CNOT9c.369G>A (p.Leu123=)
n.695+1574G>A
c.210G>A (p.Leu70=)
c.207G>A (p.Leu69=)
n.436+1574G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.218584660G>CCA350569094CNOT9c.369G>C (p.Leu123Phe)
n.695+1574G>C
c.210G>C (p.Leu70Phe)
c.207G>C (p.Leu69Phe)
n.436+1574G>C
2g.218584660G=CA1328827417CNOT9c.369G= (p.Leu123=)
n.695+1574G=
c.210G= (p.Leu70=)
c.207G= (p.Leu69=)
n.436+1574G=
2g.218584660G>TCA350569093CNOT9c.369G>T (p.Leu123Phe)
n.695+1574G>T
c.210G>T (p.Leu70Phe)
c.207G>T (p.Leu69Phe)
n.436+1574G>T
2g.218584661C>ACA350569095CNOT9c.370C>A (p.His124Asn)
n.695+1575C>A
c.211C>A (p.His71Asn)
c.208C>A (p.His70Asn)
n.436+1575C>A
2g.218584661C>GCA350569096CNOT9c.370C>G (p.His124Asp)
n.695+1575C>G
c.211C>G (p.His71Asp)
c.208C>G (p.His70Asp)
n.436+1575C>G
2g.218584661C>TCA350569097CNOT9c.370C>T (p.His124Tyr)
n.695+1575C>T
c.211C>T (p.His71Tyr)
c.208C>T (p.His70Tyr)
n.436+1575C>T
2g.218584662A>CCA350569098CNOT9c.371A>C (p.His124Pro)
n.695+1576A>C
c.212A>C (p.His71Pro)
c.209A>C (p.His70Pro)
n.436+1576A>C
2g.218584662A>GCA350569099CNOT9c.371A>G (p.His124Arg)
n.695+1576A>G
c.212A>G (p.His71Arg)
c.209A>G (p.His70Arg)
n.436+1576A>G
2g.218584662A>TCA350569100CNOT9c.371A>T (p.His124Leu)
n.695+1576A>T
c.212A>T (p.His71Leu)
c.209A>T (p.His70Leu)
n.436+1576A>T
2g.218584663C>ACA350569101CNOT9c.372C>A (p.His124Gln)
n.695+1577C>A
c.213C>A (p.His71Gln)
c.210C>A (p.His70Gln)
n.436+1577C>A
2g.218584663C>GCA350569102CNOT9c.372C>G (p.His124Gln)
n.695+1577C>G
c.213C>G (p.His71Gln)
c.210C>G (p.His70Gln)
n.436+1577C>G
2g.218584663C>TCA431228449CNOT9c.372C>T (p.His124=)
n.695+1577C>T
c.213C>T (p.His71=)
c.210C>T (p.His70=)
n.436+1577C>T
2g.218584664A>CCA350569103CNOT9c.373A>C (p.Thr125Pro)
n.695+1578A>C
c.214A>C (p.Thr72Pro)
c.211A>C (p.Thr71Pro)
n.436+1578A>C
2g.218584664A>GCA350569105CNOT9c.373A>G (p.Thr125Ala)
n.695+1578A>G
c.214A>G (p.Thr72Ala)
c.211A>G (p.Thr71Ala)
n.436+1578A>G
2g.218584664A>TCA350569104CNOT9c.373A>T (p.Thr125Ser)
n.695+1578A>T
c.214A>T (p.Thr72Ser)
c.211A>T (p.Thr71Ser)
n.436+1578A>T
2g.218584665C>ACA350569106CNOT9c.374C>A (p.Thr125Asn)
n.695+1579C>A
c.215C>A (p.Thr72Asn)
c.212C>A (p.Thr71Asn)
n.436+1579C>A
2g.218584665C=CA1328827418CNOT9c.374C= (p.Thr125=)
n.695+1579C=
c.215C= (p.Thr72=)
c.212C= (p.Thr71=)
n.436+1579C=
2g.218584665C>GCA65779164CNOT9c.374C>G (p.Thr125Ser)
n.695+1579C>G
c.215C>G (p.Thr72Ser)
c.212C>G (p.Thr71Ser)
n.436+1579C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.218584665C>TCA350569107CNOT9c.374C>T (p.Thr125Ile)
n.695+1579C>T
c.215C>T (p.Thr72Ile)
c.212C>T (p.Thr71Ile)
n.436+1579C>T
 COSMIC
2g.218584666T>ACA431228450CNOT9c.375T>A (p.Thr125=)
n.695+1580T>A
c.216T>A (p.Thr72=)
c.213T>A (p.Thr71=)
n.436+1580T>A
2g.218584666T>CCA2107697CNOT9c.375T>C (p.Thr125=)
n.695+1580T>C
c.216T>C (p.Thr72=)
c.213T>C (p.Thr71=)
n.436+1580T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.218584666T>GCA431228451CNOT9c.375T>G (p.Thr125=)
n.695+1580T>G
c.216T>G (p.Thr72=)
c.213T>G (p.Thr71=)
n.436+1580T>G
 gnomAD v4
2g.218584666T=CA1328827419CNOT9c.375T= (p.Thr125=)
n.695+1580T=
c.216T= (p.Thr72=)
c.213T= (p.Thr71=)
n.436+1580T=
2g.218584667G>ACA350569108CNOT9c.376G>A (p.Val126Ile)
n.695+1581G>A
c.217G>A (p.Val73Ile)
c.214G>A (p.Val72Ile)
n.436+1581G>A
2g.218584667G>CCA350569110CNOT9c.376G>C (p.Val126Leu)
n.695+1581G>C
c.217G>C (p.Val73Leu)
c.214G>C (p.Val72Leu)
n.436+1581G>C
2g.218584667G>TCA350569109CNOT9c.376G>T (p.Val126Phe)
n.695+1581G>T
c.217G>T (p.Val73Phe)
c.214G>T (p.Val72Phe)
n.436+1581G>T
2g.218584668T>ACA350569111CNOT9c.377T>A (p.Val126Asp)
n.695+1582T>A
c.218T>A (p.Val73Asp)
c.215T>A (p.Val72Asp)
n.436+1582T>A
2g.218584668T>CCA350569112CNOT9c.377T>C (p.Val126Ala)
n.695+1582T>C
c.218T>C (p.Val73Ala)
c.215T>C (p.Val72Ala)
n.436+1582T>C
2g.218584668T>GCA350569113CNOT9c.377T>G (p.Val126Gly)
n.695+1582T>G
c.218T>G (p.Val73Gly)
c.215T>G (p.Val72Gly)
n.436+1582T>G
2g.218584669C>ACA431228452CNOT9c.378C>A (p.Val126=)
n.695+1583C>A
c.219C>A (p.Val73=)
c.216C>A (p.Val72=)
n.436+1583C>A
2g.218584669C>GCA431228453CNOT9c.378C>G (p.Val126=)
n.695+1583C>G
c.219C>G (p.Val73=)
c.216C>G (p.Val72=)
n.436+1583C>G
2g.218584669C>TCA431228454CNOT9c.378C>T (p.Val126=)
n.695+1583C>T
c.219C>T (p.Val73=)
c.216C>T (p.Val72=)
n.436+1583C>T
2g.218584670A>CCA350569114CNOT9c.379A>C (p.Ser127Arg)
n.695+1584A>C
c.220A>C (p.Ser74Arg)
c.217A>C (p.Ser73Arg)
n.436+1584A>C
2g.218584670A>GCA350569115CNOT9c.379A>G (p.Ser127Gly)
n.695+1584A>G
c.220A>G (p.Ser74Gly)
c.217A>G (p.Ser73Gly)
n.436+1584A>G
2g.218584670A>TCA350569116CNOT9c.379A>T (p.Ser127Cys)
n.695+1584A>T
c.220A>T (p.Ser74Cys)
c.217A>T (p.Ser73Cys)
n.436+1584A>T
2g.218584671G>ACA350569117CNOT9c.380G>A (p.Ser127Asn)
n.695+1585G>A
c.221G>A (p.Ser74Asn)
c.218G>A (p.Ser73Asn)
n.436+1585G>A
 gnomAD v4
2g.218584671G>CCA350569118CNOT9c.380G>C (p.Ser127Thr)
n.695+1585G>C
c.221G>C (p.Ser74Thr)
c.218G>C (p.Ser73Thr)
n.436+1585G>C
2g.218584671G>TCA350569119CNOT9c.380G>T (p.Ser127Ile)
n.695+1585G>T
c.221G>T (p.Ser74Ile)
c.218G>T (p.Ser73Ile)
n.436+1585G>T
2g.218584672C>ACA350569120CNOT9c.381C>A (p.Ser127Arg)
n.695+1586C>A
c.222C>A (p.Ser74Arg)
c.219C>A (p.Ser73Arg)
n.436+1586C>A
2g.218584672C=CA1328827420CNOT9c.381C= (p.Ser127=)
n.695+1586C=
c.222C= (p.Ser74=)
c.219C= (p.Ser73=)
n.436+1586C=
2g.218584672C>GCA350569121CNOT9c.381C>G (p.Ser127Arg)
n.695+1586C>G
c.222C>G (p.Ser74Arg)
c.219C>G (p.Ser73Arg)
n.436+1586C>G
2g.218584672C>TCA2107698CNOT9c.381C>T (p.Ser127=)
n.695+1586C>T
c.222C>T (p.Ser74=)
c.219C>T (p.Ser73=)
n.436+1586C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.218584673A>CCA350569122CNOT9c.382A>C (p.Lys128Gln)
n.695+1587A>C
c.223A>C (p.Lys75Gln)
c.220A>C (p.Lys74Gln)
n.436+1587A>C
2g.218584673A>GCA350569124CNOT9c.382A>G (p.Lys128Glu)
n.695+1587A>G
c.223A>G (p.Lys75Glu)
c.220A>G (p.Lys74Glu)
n.436+1587A>G
2g.218584673A>TCA350569123CNOT9c.382A>T (p.Lys128Ter)
n.695+1587A>T
c.223A>T (p.Lys75Ter)
c.220A>T (p.Lys74Ter)
n.436+1587A>T
2g.218584674A>CCA350569125CNOT9c.383A>C (p.Lys128Thr)
n.695+1588A>C
c.224A>C (p.Lys75Thr)
c.221A>C (p.Lys74Thr)
n.436+1588A>C
2g.218584674A>GCA350569126CNOT9c.383A>G (p.Lys128Arg)
n.695+1588A>G
c.224A>G (p.Lys75Arg)
c.221A>G (p.Lys74Arg)
n.436+1588A>G
2g.218584674A>TCA350569127CNOT9c.383A>T (p.Lys128Ile)
n.695+1588A>T
c.224A>T (p.Lys75Ile)
c.221A>T (p.Lys74Ile)
n.436+1588A>T
2g.218584675A=CA1328827421CNOT9c.384A= (p.Lys128=)
n.695+1589A=
c.225A= (p.Lys75=)
c.222A= (p.Lys74=)
n.436+1589A=
2g.218584675A>CCA350569128CNOT9c.384A>C (p.Lys128Asn)
n.695+1589A>C
c.225A>C (p.Lys75Asn)
c.222A>C (p.Lys74Asn)
n.436+1589A>C
2g.218584675A>GCA65779188CNOT9c.384A>G (p.Lys128=)
n.695+1589A>G
c.225A>G (p.Lys75=)
c.222A>G (p.Lys74=)
n.436+1589A>G
 dbSNP
2g.218584675A>TCA350569129CNOT9c.384A>T (p.Lys128Asn)
n.695+1589A>T
c.225A>T (p.Lys75Asn)
c.222A>T (p.Lys74Asn)
n.436+1589A>T
2g.218584676A>CCA350569130CNOT9c.385A>C (p.Thr129Pro)
n.695+1590A>C
c.226A>C (p.Thr76Pro)
c.223A>C (p.Thr75Pro)
n.436+1590A>C
2g.218584676A>GCA350569131CNOT9c.385A>G (p.Thr129Ala)
n.695+1590A>G
c.226A>G (p.Thr76Ala)
c.223A>G (p.Thr75Ala)
n.436+1590A>G
2g.218584676A>TCA350569132CNOT9c.385A>T (p.Thr129Ser)
n.695+1590A>T
c.226A>T (p.Thr76Ser)
c.223A>T (p.Thr75Ser)
n.436+1590A>T
2g.218584677C>ACA350569133CNOT9c.386C>A (p.Thr129Lys)
n.695+1591C>A
c.227C>A (p.Thr76Lys)
c.224C>A (p.Thr75Lys)
n.436+1591C>A
2g.218584677C>GCA350569134CNOT9c.386C>G (p.Thr129Arg)
n.695+1591C>G
c.227C>G (p.Thr76Arg)
c.224C>G (p.Thr75Arg)
n.436+1591C>G
2g.218584677C>TCA350569135CNOT9c.386C>T (p.Thr129Ile)
n.695+1591C>T
c.227C>T (p.Thr76Ile)
c.224C>T (p.Thr75Ile)
n.436+1591C>T
2g.218584678A>CCA431228455CNOT9c.387A>C (p.Thr129=)
n.695+1592A>C
c.228A>C (p.Thr76=)
c.225A>C (p.Thr75=)
n.436+1592A>C
2g.218584678A>GCA431228456CNOT9c.387A>G (p.Thr129=)
n.695+1592A>G
c.228A>G (p.Thr76=)
c.225A>G (p.Thr75=)
n.436+1592A>G
 gnomAD v4
2g.218584678A>TCA431228457CNOT9c.387A>T (p.Thr129=)
n.695+1592A>T
c.228A>T (p.Thr76=)
c.225A>T (p.Thr75=)
n.436+1592A>T
2g.218584679C>ACA350569138CNOT9c.388C>A (p.Arg130Ser)
n.695+1593C>A
c.229C>A (p.Arg77Ser)
c.226C>A (p.Arg76Ser)
n.436+1593C>A
2g.218584679C=CA1328827422CNOT9c.388C= (p.Arg130=)
n.695+1593C=
c.229C= (p.Arg77=)
c.226C= (p.Arg76=)
n.436+1593C=
2g.218584679C>GCA350569137CNOT9c.388C>G (p.Arg130Gly)
n.695+1593C>G
c.229C>G (p.Arg77Gly)
c.226C>G (p.Arg76Gly)
n.436+1593C>G
2g.218584679C>TCA350569136CNOT9c.388C>T (p.Arg130Cys)
n.695+1593C>T
c.229C>T (p.Arg77Cys)
c.226C>T (p.Arg76Cys)
n.436+1593C>T
 dbSNP gnomAD v4
2g.218584680G>ACA350569139CNOT9c.389G>A (p.Arg130His)
n.695+1594G>A
c.230G>A (p.Arg77His)
c.227G>A (p.Arg76His)
n.436+1594G>A
 dbSNP gnomAD v4
2g.218584680G>CCA350569140CNOT9c.389G>C (p.Arg130Pro)
n.695+1594G>C
c.230G>C (p.Arg77Pro)
c.227G>C (p.Arg76Pro)
n.436+1594G>C
2g.218584680G=CA1328827423CNOT9c.389G= (p.Arg130=)
n.695+1594G=
c.230G= (p.Arg77=)
c.227G= (p.Arg76=)
n.436+1594G=
2g.218584680G>TCA350569141CNOT9c.389G>T (p.Arg130Leu)
n.695+1594G>T
c.230G>T (p.Arg77Leu)
c.227G>T (p.Arg76Leu)
n.436+1594G>T
 COSMIC
2g.218584681T>ACA431228458CNOT9c.390T>A (p.Arg130=)
n.695+1595T>A
c.231T>A (p.Arg77=)
c.228T>A (p.Arg76=)
n.436+1595T>A
 COSMIC
2g.218584681T>CCA431228459CNOT9c.390T>C (p.Arg130=)
n.695+1595T>C
c.231T>C (p.Arg77=)
c.228T>C (p.Arg76=)
n.436+1595T>C
2g.218584681T>GCA431228460CNOT9c.390T>G (p.Arg130=)
n.695+1595T>G
c.231T>G (p.Arg77=)
c.228T>G (p.Arg76=)
n.436+1595T>G
2g.218584682C>ACA350569142CNOT9c.391C>A (p.Pro131Thr)
n.695+1596C>A
c.232C>A (p.Pro78Thr)
c.229C>A (p.Pro77Thr)
n.436+1596C>A
2g.218584682C=CA1328827424CNOT9c.391C= (p.Pro131=)
n.695+1596C=
c.232C= (p.Pro78=)
c.229C= (p.Pro77=)
n.436+1596C=
2g.218584682C>GCA350569143CNOT9c.391C>G (p.Pro131Ala)
n.695+1596C>G
c.232C>G (p.Pro78Ala)
c.229C>G (p.Pro77Ala)
n.436+1596C>G
2g.218584682C>TCA16602954CNOT9c.391C>T (p.Pro131Ser)
n.695+1596C>T
c.232C>T (p.Pro78Ser)
c.229C>T (p.Pro77Ser)
n.436+1596C>T
 ClinVar dbSNP COSMIC
2g.218584682_218584683delinsTTCA645517062CNOT9c.391_392delinsTT (p.Pro131Phe)
n.695+1596_695+1597delinsTT
c.232_233delinsTT (p.Pro78Phe)
c.229_230delinsTT (p.Pro77Phe)
n.436+1596_436+1597delinsTT
 COSMIC
2g.218584683C>ACA350569144CNOT9c.392C>A (p.Pro131His)
n.695+1597C>A
c.233C>A (p.Pro78His)
c.230C>A (p.Pro77His)
n.436+1597C>A
2g.218584683C=CA1328827425CNOT9c.392C= (p.Pro131=)
n.695+1597C=
c.233C= (p.Pro78=)
c.230C= (p.Pro77=)
n.436+1597C=
2g.218584683C>GCA350569145CNOT9c.392C>G (p.Pro131Arg)
n.695+1597C>G
c.233C>G (p.Pro78Arg)
c.230C>G (p.Pro77Arg)
n.436+1597C>G
2g.218584683C>TCA16602256CNOT9c.392C>T (p.Pro131Leu)
n.695+1597C>T
c.233C>T (p.Pro78Leu)
c.230C>T (p.Pro77Leu)
n.436+1597C>T
 ClinVar dbSNP COSMIC
2g.218584683_218584684delinsTTCA645517063CNOT9c.392_393delinsTT (p.Pro131Leu)
n.695+1597_695+1598delinsTT
c.233_234delinsTT (p.Pro78Leu)
c.230_231delinsTT (p.Pro77Leu)
n.436+1597_436+1598delinsTT
 COSMIC
2g.218584684C>ACA431228461CNOT9c.393C>A (p.Pro131=)
n.695+1598C>A
c.234C>A (p.Pro78=)
c.231C>A (p.Pro77=)
n.436+1598C>A
2g.218584684C>GCA431228462CNOT9c.393C>G (p.Pro131=)
n.695+1598C>G
c.234C>G (p.Pro78=)
c.231C>G (p.Pro77=)
n.436+1598C>G
2g.218584684C>TCA431228463CNOT9c.393C>T (p.Pro131=)
n.695+1598C>T
c.234C>T (p.Pro78=)
c.231C>T (p.Pro77=)
n.436+1598C>T
 gnomAD v4
2g.218584685T>ACA350569146CNOT9c.394T>A (p.Phe132Ile)
n.695+1599T>A
c.235T>A (p.Phe79Ile)
c.232T>A (p.Phe78Ile)
n.436+1599T>A
2g.218584685T>CCA350569147CNOT9c.394T>C (p.Phe132Leu)
n.695+1599T>C
c.235T>C (p.Phe79Leu)
c.232T>C (p.Phe78Leu)
n.436+1599T>C
2g.218584685T>GCA350569148CNOT9c.394T>G (p.Phe132Val)
n.695+1599T>G
c.235T>G (p.Phe79Val)
c.232T>G (p.Phe78Val)
n.436+1599T>G
2g.218584686T>ACA350569151CNOT9c.395T>A (p.Phe132Tyr)
n.695+1600T>A
c.236T>A (p.Phe79Tyr)
c.233T>A (p.Phe78Tyr)
n.436+1600T>A
2g.218584686T>CCA350569149CNOT9c.395T>C (p.Phe132Ser)
n.695+1600T>C
c.236T>C (p.Phe79Ser)
c.233T>C (p.Phe78Ser)
n.436+1600T>C
2g.218584686T>GCA350569150CNOT9c.395T>G (p.Phe132Cys)
n.695+1600T>G
c.236T>G (p.Phe79Cys)
c.233T>G (p.Phe78Cys)
n.436+1600T>G
2g.218584687T>ACA350569152CNOT9c.396T>A (p.Phe132Leu)
n.695+1601T>A
c.237T>A (p.Phe79Leu)
c.234T>A (p.Phe78Leu)
n.436+1601T>A
2g.218584687T>CCA431228464CNOT9c.396T>C (p.Phe132=)
n.695+1601T>C
c.237T>C (p.Phe79=)
c.234T>C (p.Phe78=)
n.436+1601T>C
2g.218584687T>GCA350569153CNOT9c.396T>G (p.Phe132Leu)
n.695+1601T>G
c.237T>G (p.Phe79Leu)
c.234T>G (p.Phe78Leu)
n.436+1601T>G
2g.218584688G>ACA350569154CNOT9c.397G>A (p.Glu133Lys)
n.695+1602G>A
c.238G>A (p.Glu80Lys)
c.235G>A (p.Glu79Lys)
n.436+1602G>A
2g.218584688G>CCA350569156CNOT9c.397G>C (p.Glu133Gln)
n.695+1602G>C
c.238G>C (p.Glu80Gln)
c.235G>C (p.Glu79Gln)
n.436+1602G>C
2g.218584688G>TCA350569155CNOT9c.397G>T (p.Glu133Ter)
n.695+1602G>T
c.238G>T (p.Glu80Ter)
c.235G>T (p.Glu79Ter)
n.436+1602G>T
2g.218584689A>CCA350569157CNOT9c.398A>C (p.Glu133Ala)
n.695+1603A>C
c.239A>C (p.Glu80Ala)
c.236A>C (p.Glu79Ala)
n.436+1603A>C
2g.218584689A>GCA350569159CNOT9c.398A>G (p.Glu133Gly)
n.695+1603A>G
c.239A>G (p.Glu80Gly)
c.236A>G (p.Glu79Gly)
n.436+1603A>G
2g.218584689A>TCA350569158CNOT9c.398A>T (p.Glu133Val)
n.695+1603A>T
c.239A>T (p.Glu80Val)
c.236A>T (p.Glu79Val)
n.436+1603A>T
2g.218584690G>ACA431228465CNOT9c.399G>A (p.Glu133=)
n.695+1604G>A
c.240G>A (p.Glu80=)
c.237G>A (p.Glu79=)
n.436+1604G>A
 gnomAD v4
2g.218584690G>CCA350569160CNOT9c.399G>C (p.Glu133Asp)
n.695+1604G>C
c.240G>C (p.Glu80Asp)
c.237G>C (p.Glu79Asp)
n.436+1604G>C
 gnomAD v4
2g.218584690G>TCA350569161CNOT9c.399G>T (p.Glu133Asp)
n.695+1604G>T
c.240G>T (p.Glu80Asp)
c.237G>T (p.Glu79Asp)
n.436+1604G>T
2g.218584691T>ACA350569162CNOT9c.400T>A (p.Tyr134Asn)
n.695+1605T>A
c.241T>A (p.Tyr81Asn)
c.238T>A (p.Tyr80Asn)
n.436+1605T>A
2g.218584691T>CCA350569163CNOT9c.400T>C (p.Tyr134His)
n.695+1605T>C
c.241T>C (p.Tyr81His)
c.238T>C (p.Tyr80His)
n.436+1605T>C
2g.218584691T>GCA350569164CNOT9c.400T>G (p.Tyr134Asp)
n.695+1605T>G
c.241T>G (p.Tyr81Asp)
c.238T>G (p.Tyr80Asp)
n.436+1605T>G
2g.218584692A>CCA350569165CNOT9c.401A>C (p.Tyr134Ser)
n.695+1606A>C
c.242A>C (p.Tyr81Ser)
c.239A>C (p.Tyr80Ser)
n.436+1606A>C
2g.218584692A>GCA350569166CNOT9c.401A>G (p.Tyr134Cys)
n.695+1606A>G
c.242A>G (p.Tyr81Cys)
c.239A>G (p.Tyr80Cys)
n.436+1606A>G
2g.218584692A>TCA350569167CNOT9c.401A>T (p.Tyr134Phe)
n.695+1606A>T
c.242A>T (p.Tyr81Phe)
c.239A>T (p.Tyr80Phe)
n.436+1606A>T
2g.218584693T>ACA350569168CNOT9c.402T>A (p.Tyr134Ter)
n.695+1607T>A
c.243T>A (p.Tyr81Ter)
c.240T>A (p.Tyr80Ter)
n.436+1607T>A
2g.218584693T>CCA431228466CNOT9c.402T>C (p.Tyr134=)
n.695+1607T>C
c.243T>C (p.Tyr81=)
c.240T>C (p.Tyr80=)
n.436+1607T>C
 dbSNP gnomAD v4
2g.218584693T>GCA350569169CNOT9c.402T>G (p.Tyr134Ter)
n.695+1607T>G
c.243T>G (p.Tyr81Ter)
c.240T>G (p.Tyr80Ter)
n.436+1607T>G
2g.218584693T=CA1328827426CNOT9c.402T= (p.Tyr134=)
n.695+1607T=
c.243T= (p.Tyr81=)
c.240T= (p.Tyr80=)
n.436+1607T=
2g.218584694C>ACA350569172CNOT9c.403C>A (p.Leu135Ile)
n.695+1608C>A
c.244C>A (p.Leu82Ile)
c.241C>A (p.Leu81Ile)
n.436+1608C>A
2g.218584694C>GCA350569171CNOT9c.403C>G (p.Leu135Val)
n.695+1608C>G
c.244C>G (p.Leu82Val)
c.241C>G (p.Leu81Val)
n.436+1608C>G
2g.218584694C>TCA350569170CNOT9c.403C>T (p.Leu135Phe)
n.695+1608C>T
c.244C>T (p.Leu82Phe)
c.241C>T (p.Leu81Phe)
n.436+1608C>T
2g.218584695T>ACA350569173CNOT9c.404T>A (p.Leu135His)
n.695+1609T>A
c.245T>A (p.Leu82His)
c.242T>A (p.Leu81His)
n.436+1609T>A
2g.218584695T>CCA350569174CNOT9c.404T>C (p.Leu135Pro)
n.695+1609T>C
c.245T>C (p.Leu82Pro)
c.242T>C (p.Leu81Pro)
n.436+1609T>C
2g.218584695T>GCA350569175CNOT9c.404T>G (p.Leu135Arg)
n.695+1609T>G
c.245T>G (p.Leu82Arg)
c.242T>G (p.Leu81Arg)
n.436+1609T>G
2g.218584696C>ACA431228467CNOT9c.405C>A (p.Leu135=)
n.695+1610C>A
c.246C>A (p.Leu82=)
c.243C>A (p.Leu81=)
n.436+1610C>A
2g.218584696C=CA1328827427CNOT9c.405C= (p.Leu135=)
n.695+1610C=
c.246C= (p.Leu82=)
c.243C= (p.Leu81=)
n.436+1610C=
2g.218584696C>GCA431228468CNOT9c.405C>G (p.Leu135=)
n.695+1610C>G
c.246C>G (p.Leu82=)
c.243C>G (p.Leu81=)
n.436+1610C>G
 dbSNP gnomAD v2 gnomAD v4
2g.218584696C>TCA431228469CNOT9c.405C>T (p.Leu135=)
n.695+1610C>T
c.246C>T (p.Leu82=)
c.243C>T (p.Leu81=)
n.436+1610C>T
 dbSNP
2g.218584697C>ACA431228470CNOT9c.406C>A (p.Arg136=)
n.695+1611C>A
c.247C>A (p.Arg83=)
c.244C>A (p.Arg82=)
n.436+1611C>A
 dbSNP
2g.218584697C=CA1328827428CNOT9c.406C= (p.Arg136=)
n.695+1611C=
c.247C= (p.Arg83=)
c.244C= (p.Arg82=)
n.436+1611C=
2g.218584697C>GCA350569176CNOT9c.406C>G (p.Arg136Gly)
n.695+1611C>G
c.247C>G (p.Arg83Gly)
c.244C>G (p.Arg82Gly)
n.436+1611C>G
2g.218584697C>TCA350569177CNOT9c.406C>T (p.Arg136Trp)
n.695+1611C>T
c.247C>T (p.Arg83Trp)
c.244C>T (p.Arg82Trp)
n.436+1611C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.218584698G>ACA350569178CNOT9c.407G>A (p.Arg136Gln)
n.695+1612G>A
c.248G>A (p.Arg83Gln)
c.245G>A (p.Arg82Gln)
n.436+1612G>A
 COSMIC
2g.218584698G>CCA350569179CNOT9c.407G>C (p.Arg136Pro)
n.695+1612G>C
c.248G>C (p.Arg83Pro)
c.245G>C (p.Arg82Pro)
n.436+1612G>C
2g.218584698G>TCA350569180CNOT9c.407G>T (p.Arg136Leu)
n.695+1612G>T
c.248G>T (p.Arg83Leu)
c.245G>T (p.Arg82Leu)
n.436+1612G>T
2g.218584699G>ACA431228472CNOT9c.408G>A (p.Arg136=)
n.695+1613G>A
c.249G>A (p.Arg83=)
c.246G>A (p.Arg82=)
n.436+1613G>A
 gnomAD v4
2g.218584699G>CCA431228473CNOT9c.408G>C (p.Arg136=)
n.695+1613G>C
c.249G>C (p.Arg83=)
c.246G>C (p.Arg82=)
n.436+1613G>C
2g.218584699G=CA1328827429CNOT9c.408G= (p.Arg136=)
n.695+1613G=
c.249G= (p.Arg83=)
c.246G= (p.Arg82=)
n.436+1613G=
2g.218584699G>TCA431228474CNOT9c.408G>T (p.Arg136=)
n.695+1613G>T
c.249G>T (p.Arg83=)
c.246G>T (p.Arg82=)
n.436+1613G>T
 dbSNP gnomAD v2 gnomAD v4
2g.218584700C>ACA350569181CNOT9c.409C>A (p.Leu137Ile)
n.695+1614C>A
c.250C>A (p.Leu84Ile)
c.247C>A (p.Leu83Ile)
n.436+1614C>A
2g.218584700C>GCA350569182CNOT9c.409C>G (p.Leu137Val)
n.695+1614C>G
c.250C>G (p.Leu84Val)
c.247C>G (p.Leu83Val)
n.436+1614C>G
2g.218584700C>TCA350569183CNOT9c.409C>T (p.Leu137Phe)
n.695+1614C>T
c.250C>T (p.Leu84Phe)
c.247C>T (p.Leu83Phe)
n.436+1614C>T
2g.218584701T>ACA350569186CNOT9c.410T>A (p.Leu137His)
n.695+1615T>A
c.251T>A (p.Leu84His)
c.248T>A (p.Leu83His)
n.436+1615T>A
2g.218584701T>CCA350569185CNOT9c.410T>C (p.Leu137Pro)
n.695+1615T>C
c.251T>C (p.Leu84Pro)
c.248T>C (p.Leu83Pro)
n.436+1615T>C
2g.218584701T>GCA350569184CNOT9c.410T>G (p.Leu137Arg)
n.695+1615T>G
c.251T>G (p.Leu84Arg)
c.248T>G (p.Leu83Arg)
n.436+1615T>G
2g.218584702C>ACA431228476CNOT9c.411C>A (p.Leu137=)
n.695+1616C>A
c.252C>A (p.Leu84=)
c.249C>A (p.Leu83=)
n.436+1616C>A
2g.218584702C=CA1328827430CNOT9c.411C= (p.Leu137=)
n.695+1616C=
c.252C= (p.Leu84=)
c.249C= (p.Leu83=)
n.436+1616C=
2g.218584702C>GCA431228475CNOT9c.411C>G (p.Leu137=)
n.695+1616C>G
c.252C>G (p.Leu84=)
c.249C>G (p.Leu83=)
n.436+1616C>G
2g.218584702C>TCA2107699CNOT9c.411C>T (p.Leu137=)
n.695+1616C>T
c.252C>T (p.Leu84=)
c.249C>T (p.Leu83=)
n.436+1616C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.218584703A>CCA350569187CNOT9c.412A>C (p.Thr138Pro)
n.695+1617A>C
c.253A>C (p.Thr85Pro)
c.250A>C (p.Thr84Pro)
n.436+1617A>C
2g.218584703A>GCA350569188CNOT9c.412A>G (p.Thr138Ala)
n.695+1617A>G
c.253A>G (p.Thr85Ala)
c.250A>G (p.Thr84Ala)
n.436+1617A>G
2g.218584703A>TCA350569189CNOT9c.412A>T (p.Thr138Ser)
n.695+1617A>T
c.253A>T (p.Thr85Ser)
c.250A>T (p.Thr84Ser)
n.436+1617A>T
2g.218584704C>ACA350569190CNOT9c.413C>A (p.Thr138Asn)
n.695+1618C>A
c.254C>A (p.Thr85Asn)
c.251C>A (p.Thr84Asn)
n.436+1618C>A
 gnomAD v4
2g.218584704C>GCA350569191CNOT9c.413C>G (p.Thr138Ser)
n.695+1618C>G
c.254C>G (p.Thr85Ser)
c.251C>G (p.Thr84Ser)
n.436+1618C>G
2g.218584704C>TCA350569192CNOT9c.413C>T (p.Thr138Ile)
n.695+1618C>T
c.254C>T (p.Thr85Ile)
c.251C>T (p.Thr84Ile)
n.436+1618C>T
2g.218584705delCA2577244319CNOT9c.414del (p.Ser139AlafsTer9)
c.414del (p.Ser139AlafsTer6)
n.695+1619del
c.255del (p.Ser86AlafsTer9)
c.252del (p.Ser85AlafsTer9)
n.436+1619del
2g.218584705C>ACA431228477CNOT9c.414C>A (p.Thr138=)
n.695+1619C>A
c.255C>A (p.Thr85=)
c.252C>A (p.Thr84=)
n.436+1619C>A
2g.218584705C>GCA431228478CNOT9c.414C>G (p.Thr138=)
n.695+1619C>G
c.255C>G (p.Thr85=)
c.252C>G (p.Thr84=)
n.436+1619C>G
2g.218584705C>TCA431228479CNOT9c.414C>T (p.Thr138=)
n.695+1619C>T
c.255C>T (p.Thr85=)
c.252C>T (p.Thr84=)
n.436+1619C>T

Number of alleles fetched