Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.218584615A>C | CA431228367 | CNOT9 | c.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 | |
2 | g.218584615A>G | CA431228368 | CNOT9 | c.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 |
2 | g.218584615A>T | CA431228371 | CNOT9 | c.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 | |
2 | g.218584616G>A | CA350568995 | CNOT9 | c.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 | |
2 | g.218584616G>C | CA350568996 | CNOT9 | c.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 | |
2 | g.218584616G>T | CA350568997 | CNOT9 | c.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 | |
2 | g.218584617C>A | CA350568998 | CNOT9 | c.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 | |
2 | g.218584617C= | CA1328827406 | CNOT9 | c.326C= (p.Ala109=) c.*218C= (n.*218C=) n.695+1531C= c.167C= (p.Ala56=) c.164C= (p.Ala55=) n.436+1531C= | |
2 | g.218584617C>G | CA350568999 | CNOT9 | c.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 | |
2 | g.218584617C>T | CA2107691 | CNOT9 | c.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 |
2 | g.218584618G>A | CA2107692 | CNOT9 | c.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 |
2 | g.218584618G>C | CA431228378 | CNOT9 | c.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 | |
2 | g.218584618G= | CA1328827407 | CNOT9 | c.327G= (p.Ala109=) c.*219G= (n.*219G=) n.695+1532G= c.168G= (p.Ala56=) c.165G= (p.Ala55=) n.436+1532G= | |
2 | g.218584618G>T | CA431228379 | CNOT9 | c.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 | |
2 | g.218584619T>A | CA350569001 | CNOT9 | c.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 | |
2 | g.218584619T>C | CA350569002 | CNOT9 | c.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 | |
2 | g.218584619T>G | CA350569000 | CNOT9 | c.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 | |
2 | g.218584620T>A | CA350569003 | CNOT9 | c.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 | |
2 | g.218584620T>C | CA350569004 | CNOT9 | c.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 | |
2 | g.218584620T>G | CA350569005 | CNOT9 | c.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 | |
2 | g.218584621T>A | CA350569006 | CNOT9 | c.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 | |
2 | g.218584621T>C | CA431228383 | CNOT9 | c.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 | |
2 | g.218584621T>G | CA350569007 | CNOT9 | c.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 | |
2 | g.218584622C>A | CA350569008 | CNOT9 | c.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 |
2 | g.218584622C>G | CA350569009 | CNOT9 | c.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 | |
2 | g.218584622C>T | CA350569010 | CNOT9 | c.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 |
2 | g.218584623T>A | CA350569011 | CNOT9 | c.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 | |
2 | g.218584623T>C | CA350569012 | CNOT9 | c.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 | |
2 | g.218584623T>G | CA350569013 | CNOT9 | c.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 | |
2 | g.218584624C>A | CA65779119 | CNOT9 | c.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 |
2 | g.218584624C= | CA1328827408 | CNOT9 | c.333C= (p.Leu111=) c.*225C= (n.*225C=) n.695+1538C= c.174C= (p.Leu58=) c.171C= (p.Leu57=) n.436+1538C= | |
2 | g.218584624C>G | CA431228389 | CNOT9 | c.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 | |
2 | g.218584624C>T | CA2107693 | CNOT9 | c.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 |
2 | g.218584625G>A | CA2107694 | CNOT9 | c.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 |
2 | g.218584625G>C | CA350569015 | CNOT9 | c.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 | |
2 | g.218584625G= | CA1328827409 | CNOT9 | c.334G= (p.Ala112=) c.*226G= (n.*226G=) n.695+1539G= c.175G= (p.Ala59=) c.172G= (p.Ala58=) n.436+1539G= | |
2 | g.218584625G>T | CA350569014 | CNOT9 | c.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 |
2 | g.218584626C>A | CA350569016 | CNOT9 | c.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 | |
2 | g.218584626C>G | CA350569017 | CNOT9 | c.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 | |
2 | g.218584626C>T | CA350569018 | CNOT9 | c.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 | |
2 | g.218584627A>C | CA431228395 | CNOT9 | c.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 | |
2 | g.218584627A>G | CA431228398 | CNOT9 | c.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 | |
2 | g.218584627A>T | CA431228396 | CNOT9 | c.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 | |
2 | g.218584628G>A | CA350569019 | CNOT9 | c.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 | |
2 | g.218584628G>C | CA350569020 | CNOT9 | c.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 | |
2 | g.218584628G>T | CA350569021 | CNOT9 | c.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 | |
2 | g.218584629C>A | CA350569024 | CNOT9 | c.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 | |
2 | g.218584629C>G | CA350569022 | CNOT9 | c.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 | |
2 | g.218584629C>T | CA350569023 | CNOT9 | c.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 | |
2 | g.218584630A= | CA1328827410 | CNOT9 | c.339A= (p.Ala113=) c.*231A= (n.*231A=) n.695+1544A= c.180A= (p.Ala60=) c.177A= (p.Ala59=) n.436+1544A= | |
2 | g.218584630A>C | CA431228404 | CNOT9 | c.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 |
2 | g.218584630A>G | CA431228406 | CNOT9 | c.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 |
2 | g.218584630A>T | CA431228407 | CNOT9 | c.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 |
2 | g.218584631C>A | CA350569025 | CNOT9 | c.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 | |
2 | g.218584631C>G | CA350569026 | CNOT9 | c.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 | |
2 | g.218584631C>T | CA350569027 | CNOT9 | c.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 | |
2 | g.218584632A>C | CA350569028 | CNOT9 | c.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 | |
2 | g.218584632A>G | CA350569029 | CNOT9 | c.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 | |
2 | g.218584632A>T | CA350569030 | CNOT9 | c.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 | |
2 | g.218584633C>A | CA350569031 | CNOT9 | c.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 | |
2 | g.218584633C>G | CA350569032 | CNOT9 | c.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 | |
2 | g.218584633C>T | CA431228411 | CNOT9 | c.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 |
2 | g.218584634A= | CA1328827411 | CNOT9 | c.343A= (p.Ile115=) c.*235A= (n.*235A=) n.695+1548A= c.184A= (p.Ile62=) c.181A= (p.Ile61=) n.436+1548A= | |
2 | g.218584634A>C | CA350569033 | CNOT9 | c.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 | |
2 | g.218584634A>G | CA350569035 | CNOT9 | c.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 |
2 | g.218584634A>T | CA350569034 | CNOT9 | c.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 | |
2 | g.218584635T>A | CA350569036 | CNOT9 | c.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 | |
2 | g.218584635T>C | CA350569037 | CNOT9 | c.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 | |
2 | g.218584635T>G | CA350569038 | CNOT9 | c.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 | |
2 | g.218584636C>A | CA431228420 | CNOT9 | c.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 |
2 | g.218584636C= | CA1328827412 | CNOT9 | c.345C= (p.Ile115=) c.*237C= (n.*237C=) n.695+1550C= c.186C= (p.Ile62=) c.183C= (p.Ile61=) n.436+1550C= | |
2 | g.218584636C>G | CA350569039 | CNOT9 | c.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 | |
2 | g.218584636C>T | CA431228421 | CNOT9 | c.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 | |
2 | g.218584637C>A | CA350569040 | CNOT9 | c.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 | |
2 | g.218584637C>G | CA350569041 | CNOT9 | c.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 | |
2 | g.218584637C>T | CA350569042 | CNOT9 | c.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 | |
2 | g.218584638C>A | CA350569043 | CNOT9 | c.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 | |
2 | g.218584638C>G | CA350569044 | CNOT9 | c.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 | |
2 | g.218584638C>T | CA350569045 | CNOT9 | c.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 | |
2 | g.218584639A>C | CA431228428 | CNOT9 | c.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 | |
2 | g.218584639A>G | CA431228429 | CNOT9 | c.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 | |
2 | g.218584639A>T | CA431228431 | CNOT9 | c.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 | |
2 | g.218584640C>A | CA350569046 | CNOT9 | c.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 | |
2 | g.218584640C>G | CA350569047 | CNOT9 | c.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 | |
2 | g.218584640C>T | CA350569048 | CNOT9 | c.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 | |
2 | g.218584640_218584641delinsCT | CA1328827413 | CNOT9 | c.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 | |
2 | g.218584641T>A | CA350569049 | CNOT9 | c.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 | |
2 | g.218584641T>C | CA350569051 | CNOT9 | c.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 | |
2 | g.218584641T>G | CA350569050 | CNOT9 | c.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 | |
2 | g.218584647dup | CA645517061 | CNOT9 | c.356dup (p.Leu119PhefsTer15) c.*248dup (n.*248dup) n.695+1561dup c.197dup (p.Leu66PhefsTer15) c.194dup (p.Leu65PhefsTer15) n.436+1561dup | gnomAD v4 COSMIC |
2 | g.218584647del | CA431228434 | CNOT9 | c.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 |
2 | g.218584642T>A | CA431228438 | CNOT9 | c.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 | |
2 | g.218584642T>C | CA431228437 | CNOT9 | c.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 | |
2 | g.218584642T>G | CA431228436 | CNOT9 | c.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 | |
2 | g.218584643T>A | CA350569052 | CNOT9 | c.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 | |
2 | g.218584643T>C | CA350569053 | CNOT9 | c.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 |
2 | g.218584643T>G | CA350569054 | CNOT9 | c.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 | |
2 | g.218584644T>A | CA350569055 | CNOT9 | c.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 | |
2 | g.218584644T>C | CA350569056 | CNOT9 | c.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 |
2 | g.218584644T>G | CA65779145 | CNOT9 | c.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 |
2 | g.218584644T= | CA1328827414 | CNOT9 | c.353T= (p.Phe118=) c.*245T= (n.*245T=) n.695+1558T= c.194T= (p.Phe65=) c.191T= (p.Phe64=) n.436+1558T= | |
2 | g.218584645T>A | CA350569057 | CNOT9 | c.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 | |
2 | g.218584645T>C | CA431228440 | CNOT9 | c.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 | |
2 | g.218584645T>G | CA350569058 | CNOT9 | c.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 | |
2 | g.218584646T>A | CA350569059 | CNOT9 | c.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 | |
2 | g.218584646T>C | CA431228441 | CNOT9 | c.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 | |
2 | g.218584646T>G | CA350569060 | CNOT9 | c.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 | |
2 | g.218584647T>A | CA350569063 | CNOT9 | c.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 | |
2 | g.218584647T>C | CA350569062 | CNOT9 | c.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 | |
2 | g.218584647T>G | CA350569061 | CNOT9 | c.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 | |
2 | g.218584648G>A | CA431228442 | CNOT9 | c.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 | |
2 | g.218584648G>C | CA350569065 | CNOT9 | c.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 | |
2 | g.218584648G>T | CA350569064 | CNOT9 | c.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 | |
2 | g.218584649T>A | CA350569066 | CNOT9 | c.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 | |
2 | g.218584649T>C | CA350569067 | CNOT9 | c.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 | |
2 | g.218584649T>G | CA350569068 | CNOT9 | c.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 | |
2 | g.218584650A>C | CA350569069 | CNOT9 | c.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 | |
2 | g.218584650A>G | CA350569070 | CNOT9 | c.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 | |
2 | g.218584650A>T | CA350569071 | CNOT9 | c.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 | |
2 | g.218584651C>A | CA350569072 | CNOT9 | c.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 | |
2 | g.218584651C= | CA1328827415 | CNOT9 | c.360C= (p.Tyr120=) c.*252C= (n.*252C=) n.695+1565C= c.201C= (p.Tyr67=) c.198C= (p.Tyr66=) n.436+1565C= | |
2 | g.218584651C>G | CA350569073 | CNOT9 | c.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 | |
2 | g.218584651C>T | CA431228443 | CNOT9 | c.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 |
2 | g.218584652C>A | CA350569074 | CNOT9 | c.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 | |
2 | g.218584652C>G | CA350569075 | CNOT9 | c.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 | |
2 | g.218584652C>T | CA350569076 | CNOT9 | c.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 | |
2 | g.218584653C>A | CA350569078 | CNOT9 | c.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 | |
2 | g.218584653C>G | CA350569079 | CNOT9 | c.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 | |
2 | g.218584653C>T | CA350569077 | CNOT9 | c.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 | |
2 | g.218584654C>A | CA431228446 | CNOT9 | c.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 | |
2 | g.218584654C= | CA1328827416 | CNOT9 | c.363C= (p.Pro121=) c.*255C= (n.*255C=) n.695+1568C= c.204C= (p.Pro68=) c.201C= (p.Pro67=) n.436+1568C= | |
2 | g.218584654C>G | CA431228445 | CNOT9 | c.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 | |
2 | g.218584654C>T | CA2107695 | CNOT9 | c.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 |
2 | g.218584655T>A | CA350569080 | CNOT9 | c.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 | |
2 | g.218584655T>C | CA350569081 | CNOT9 | c.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 | |
2 | g.218584655T>G | CA350569082 | CNOT9 | c.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 | |
2 | g.218584655_218584656insGTGTAAGGCACTGACCTTACACAGCTTTAGAGAAATTACTAAGAAAATTAC | CA1042472623 | CNOT9 | c.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 |
2 | g.218584656T>A | CA350569085 | CNOT9 | c.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 | |
2 | g.218584656T>C | CA350569084 | CNOT9 | c.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 | |
2 | g.218584656T>G | CA350569083 | CNOT9 | c.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 | |
2 | g.218584657T>A | CA350569086 | CNOT9 | c.366T>A (p.Phe122Leu) n.695+1571T>A c.207T>A (p.Phe69Leu) c.204T>A (p.Phe68Leu) n.436+1571T>A | |
2 | g.218584657T>C | CA431228447 | CNOT9 | c.366T>C (p.Phe122=) n.695+1571T>C c.207T>C (p.Phe69=) c.204T>C (p.Phe68=) n.436+1571T>C | |
2 | g.218584657T>G | CA350569087 | CNOT9 | c.366T>G (p.Phe122Leu) n.695+1571T>G c.207T>G (p.Phe69Leu) c.204T>G (p.Phe68Leu) n.436+1571T>G | |
2 | g.218584658T>A | CA350569088 | CNOT9 | c.367T>A (p.Leu123Met) n.695+1572T>A c.208T>A (p.Leu70Met) c.205T>A (p.Leu69Met) n.436+1572T>A | |
2 | g.218584658T>C | CA431228448 | CNOT9 | c.367T>C (p.Leu123=) n.695+1572T>C c.208T>C (p.Leu70=) c.205T>C (p.Leu69=) n.436+1572T>C | |
2 | g.218584658T>G | CA350569089 | CNOT9 | c.367T>G (p.Leu123Val) n.695+1572T>G c.208T>G (p.Leu70Val) c.205T>G (p.Leu69Val) n.436+1572T>G | |
2 | g.218584659T>A | CA350569090 | CNOT9 | c.368T>A (p.Leu123Ter) n.695+1573T>A c.209T>A (p.Leu70Ter) c.206T>A (p.Leu69Ter) n.436+1573T>A | |
2 | g.218584659T>C | CA350569091 | CNOT9 | c.368T>C (p.Leu123Ser) n.695+1573T>C c.209T>C (p.Leu70Ser) c.206T>C (p.Leu69Ser) n.436+1573T>C | |
2 | g.218584659T>G | CA350569092 | CNOT9 | c.368T>G (p.Leu123Trp) n.695+1573T>G c.209T>G (p.Leu70Trp) c.206T>G (p.Leu69Trp) n.436+1573T>G | |
2 | g.218584660G>A | CA2107696 | CNOT9 | c.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 |
2 | g.218584660G>C | CA350569094 | CNOT9 | c.369G>C (p.Leu123Phe) n.695+1574G>C c.210G>C (p.Leu70Phe) c.207G>C (p.Leu69Phe) n.436+1574G>C | |
2 | g.218584660G= | CA1328827417 | CNOT9 | c.369G= (p.Leu123=) n.695+1574G= c.210G= (p.Leu70=) c.207G= (p.Leu69=) n.436+1574G= | |
2 | g.218584660G>T | CA350569093 | CNOT9 | c.369G>T (p.Leu123Phe) n.695+1574G>T c.210G>T (p.Leu70Phe) c.207G>T (p.Leu69Phe) n.436+1574G>T | |
2 | g.218584661C>A | CA350569095 | CNOT9 | c.370C>A (p.His124Asn) n.695+1575C>A c.211C>A (p.His71Asn) c.208C>A (p.His70Asn) n.436+1575C>A | |
2 | g.218584661C>G | CA350569096 | CNOT9 | c.370C>G (p.His124Asp) n.695+1575C>G c.211C>G (p.His71Asp) c.208C>G (p.His70Asp) n.436+1575C>G | |
2 | g.218584661C>T | CA350569097 | CNOT9 | c.370C>T (p.His124Tyr) n.695+1575C>T c.211C>T (p.His71Tyr) c.208C>T (p.His70Tyr) n.436+1575C>T | |
2 | g.218584662A>C | CA350569098 | CNOT9 | c.371A>C (p.His124Pro) n.695+1576A>C c.212A>C (p.His71Pro) c.209A>C (p.His70Pro) n.436+1576A>C | |
2 | g.218584662A>G | CA350569099 | CNOT9 | c.371A>G (p.His124Arg) n.695+1576A>G c.212A>G (p.His71Arg) c.209A>G (p.His70Arg) n.436+1576A>G | |
2 | g.218584662A>T | CA350569100 | CNOT9 | c.371A>T (p.His124Leu) n.695+1576A>T c.212A>T (p.His71Leu) c.209A>T (p.His70Leu) n.436+1576A>T | |
2 | g.218584663C>A | CA350569101 | CNOT9 | c.372C>A (p.His124Gln) n.695+1577C>A c.213C>A (p.His71Gln) c.210C>A (p.His70Gln) n.436+1577C>A | |
2 | g.218584663C>G | CA350569102 | CNOT9 | c.372C>G (p.His124Gln) n.695+1577C>G c.213C>G (p.His71Gln) c.210C>G (p.His70Gln) n.436+1577C>G | |
2 | g.218584663C>T | CA431228449 | CNOT9 | c.372C>T (p.His124=) n.695+1577C>T c.213C>T (p.His71=) c.210C>T (p.His70=) n.436+1577C>T | |
2 | g.218584664A>C | CA350569103 | CNOT9 | c.373A>C (p.Thr125Pro) n.695+1578A>C c.214A>C (p.Thr72Pro) c.211A>C (p.Thr71Pro) n.436+1578A>C | |
2 | g.218584664A>G | CA350569105 | CNOT9 | c.373A>G (p.Thr125Ala) n.695+1578A>G c.214A>G (p.Thr72Ala) c.211A>G (p.Thr71Ala) n.436+1578A>G | |
2 | g.218584664A>T | CA350569104 | CNOT9 | c.373A>T (p.Thr125Ser) n.695+1578A>T c.214A>T (p.Thr72Ser) c.211A>T (p.Thr71Ser) n.436+1578A>T | |
2 | g.218584665C>A | CA350569106 | CNOT9 | c.374C>A (p.Thr125Asn) n.695+1579C>A c.215C>A (p.Thr72Asn) c.212C>A (p.Thr71Asn) n.436+1579C>A | |
2 | g.218584665C= | CA1328827418 | CNOT9 | c.374C= (p.Thr125=) n.695+1579C= c.215C= (p.Thr72=) c.212C= (p.Thr71=) n.436+1579C= | |
2 | g.218584665C>G | CA65779164 | CNOT9 | c.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 |
2 | g.218584665C>T | CA350569107 | CNOT9 | c.374C>T (p.Thr125Ile) n.695+1579C>T c.215C>T (p.Thr72Ile) c.212C>T (p.Thr71Ile) n.436+1579C>T | COSMIC |
2 | g.218584666T>A | CA431228450 | CNOT9 | c.375T>A (p.Thr125=) n.695+1580T>A c.216T>A (p.Thr72=) c.213T>A (p.Thr71=) n.436+1580T>A | |
2 | g.218584666T>C | CA2107697 | CNOT9 | c.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 |
2 | g.218584666T>G | CA431228451 | CNOT9 | c.375T>G (p.Thr125=) n.695+1580T>G c.216T>G (p.Thr72=) c.213T>G (p.Thr71=) n.436+1580T>G | gnomAD v4 |
2 | g.218584666T= | CA1328827419 | CNOT9 | c.375T= (p.Thr125=) n.695+1580T= c.216T= (p.Thr72=) c.213T= (p.Thr71=) n.436+1580T= | |
2 | g.218584667G>A | CA350569108 | CNOT9 | c.376G>A (p.Val126Ile) n.695+1581G>A c.217G>A (p.Val73Ile) c.214G>A (p.Val72Ile) n.436+1581G>A | |
2 | g.218584667G>C | CA350569110 | CNOT9 | c.376G>C (p.Val126Leu) n.695+1581G>C c.217G>C (p.Val73Leu) c.214G>C (p.Val72Leu) n.436+1581G>C | |
2 | g.218584667G>T | CA350569109 | CNOT9 | c.376G>T (p.Val126Phe) n.695+1581G>T c.217G>T (p.Val73Phe) c.214G>T (p.Val72Phe) n.436+1581G>T | |
2 | g.218584668T>A | CA350569111 | CNOT9 | c.377T>A (p.Val126Asp) n.695+1582T>A c.218T>A (p.Val73Asp) c.215T>A (p.Val72Asp) n.436+1582T>A | |
2 | g.218584668T>C | CA350569112 | CNOT9 | c.377T>C (p.Val126Ala) n.695+1582T>C c.218T>C (p.Val73Ala) c.215T>C (p.Val72Ala) n.436+1582T>C | |
2 | g.218584668T>G | CA350569113 | CNOT9 | c.377T>G (p.Val126Gly) n.695+1582T>G c.218T>G (p.Val73Gly) c.215T>G (p.Val72Gly) n.436+1582T>G | |
2 | g.218584669C>A | CA431228452 | CNOT9 | c.378C>A (p.Val126=) n.695+1583C>A c.219C>A (p.Val73=) c.216C>A (p.Val72=) n.436+1583C>A | |
2 | g.218584669C>G | CA431228453 | CNOT9 | c.378C>G (p.Val126=) n.695+1583C>G c.219C>G (p.Val73=) c.216C>G (p.Val72=) n.436+1583C>G | |
2 | g.218584669C>T | CA431228454 | CNOT9 | c.378C>T (p.Val126=) n.695+1583C>T c.219C>T (p.Val73=) c.216C>T (p.Val72=) n.436+1583C>T | |
2 | g.218584670A>C | CA350569114 | CNOT9 | c.379A>C (p.Ser127Arg) n.695+1584A>C c.220A>C (p.Ser74Arg) c.217A>C (p.Ser73Arg) n.436+1584A>C | |
2 | g.218584670A>G | CA350569115 | CNOT9 | c.379A>G (p.Ser127Gly) n.695+1584A>G c.220A>G (p.Ser74Gly) c.217A>G (p.Ser73Gly) n.436+1584A>G | |
2 | g.218584670A>T | CA350569116 | CNOT9 | c.379A>T (p.Ser127Cys) n.695+1584A>T c.220A>T (p.Ser74Cys) c.217A>T (p.Ser73Cys) n.436+1584A>T | |
2 | g.218584671G>A | CA350569117 | CNOT9 | c.380G>A (p.Ser127Asn) n.695+1585G>A c.221G>A (p.Ser74Asn) c.218G>A (p.Ser73Asn) n.436+1585G>A | gnomAD v4 |
2 | g.218584671G>C | CA350569118 | CNOT9 | c.380G>C (p.Ser127Thr) n.695+1585G>C c.221G>C (p.Ser74Thr) c.218G>C (p.Ser73Thr) n.436+1585G>C | |
2 | g.218584671G>T | CA350569119 | CNOT9 | c.380G>T (p.Ser127Ile) n.695+1585G>T c.221G>T (p.Ser74Ile) c.218G>T (p.Ser73Ile) n.436+1585G>T | |
2 | g.218584672C>A | CA350569120 | CNOT9 | c.381C>A (p.Ser127Arg) n.695+1586C>A c.222C>A (p.Ser74Arg) c.219C>A (p.Ser73Arg) n.436+1586C>A | |
2 | g.218584672C= | CA1328827420 | CNOT9 | c.381C= (p.Ser127=) n.695+1586C= c.222C= (p.Ser74=) c.219C= (p.Ser73=) n.436+1586C= | |
2 | g.218584672C>G | CA350569121 | CNOT9 | c.381C>G (p.Ser127Arg) n.695+1586C>G c.222C>G (p.Ser74Arg) c.219C>G (p.Ser73Arg) n.436+1586C>G | |
2 | g.218584672C>T | CA2107698 | CNOT9 | c.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 |
2 | g.218584673A>C | CA350569122 | CNOT9 | c.382A>C (p.Lys128Gln) n.695+1587A>C c.223A>C (p.Lys75Gln) c.220A>C (p.Lys74Gln) n.436+1587A>C | |
2 | g.218584673A>G | CA350569124 | CNOT9 | c.382A>G (p.Lys128Glu) n.695+1587A>G c.223A>G (p.Lys75Glu) c.220A>G (p.Lys74Glu) n.436+1587A>G | |
2 | g.218584673A>T | CA350569123 | CNOT9 | c.382A>T (p.Lys128Ter) n.695+1587A>T c.223A>T (p.Lys75Ter) c.220A>T (p.Lys74Ter) n.436+1587A>T | |
2 | g.218584674A>C | CA350569125 | CNOT9 | c.383A>C (p.Lys128Thr) n.695+1588A>C c.224A>C (p.Lys75Thr) c.221A>C (p.Lys74Thr) n.436+1588A>C | |
2 | g.218584674A>G | CA350569126 | CNOT9 | c.383A>G (p.Lys128Arg) n.695+1588A>G c.224A>G (p.Lys75Arg) c.221A>G (p.Lys74Arg) n.436+1588A>G | |
2 | g.218584674A>T | CA350569127 | CNOT9 | c.383A>T (p.Lys128Ile) n.695+1588A>T c.224A>T (p.Lys75Ile) c.221A>T (p.Lys74Ile) n.436+1588A>T | |
2 | g.218584675A= | CA1328827421 | CNOT9 | c.384A= (p.Lys128=) n.695+1589A= c.225A= (p.Lys75=) c.222A= (p.Lys74=) n.436+1589A= | |
2 | g.218584675A>C | CA350569128 | CNOT9 | c.384A>C (p.Lys128Asn) n.695+1589A>C c.225A>C (p.Lys75Asn) c.222A>C (p.Lys74Asn) n.436+1589A>C | |
2 | g.218584675A>G | CA65779188 | CNOT9 | c.384A>G (p.Lys128=) n.695+1589A>G c.225A>G (p.Lys75=) c.222A>G (p.Lys74=) n.436+1589A>G | dbSNP |
2 | g.218584675A>T | CA350569129 | CNOT9 | c.384A>T (p.Lys128Asn) n.695+1589A>T c.225A>T (p.Lys75Asn) c.222A>T (p.Lys74Asn) n.436+1589A>T | |
2 | g.218584676A>C | CA350569130 | CNOT9 | c.385A>C (p.Thr129Pro) n.695+1590A>C c.226A>C (p.Thr76Pro) c.223A>C (p.Thr75Pro) n.436+1590A>C | |
2 | g.218584676A>G | CA350569131 | CNOT9 | c.385A>G (p.Thr129Ala) n.695+1590A>G c.226A>G (p.Thr76Ala) c.223A>G (p.Thr75Ala) n.436+1590A>G | |
2 | g.218584676A>T | CA350569132 | CNOT9 | c.385A>T (p.Thr129Ser) n.695+1590A>T c.226A>T (p.Thr76Ser) c.223A>T (p.Thr75Ser) n.436+1590A>T | |
2 | g.218584677C>A | CA350569133 | CNOT9 | c.386C>A (p.Thr129Lys) n.695+1591C>A c.227C>A (p.Thr76Lys) c.224C>A (p.Thr75Lys) n.436+1591C>A | |
2 | g.218584677C>G | CA350569134 | CNOT9 | c.386C>G (p.Thr129Arg) n.695+1591C>G c.227C>G (p.Thr76Arg) c.224C>G (p.Thr75Arg) n.436+1591C>G | |
2 | g.218584677C>T | CA350569135 | CNOT9 | c.386C>T (p.Thr129Ile) n.695+1591C>T c.227C>T (p.Thr76Ile) c.224C>T (p.Thr75Ile) n.436+1591C>T | |
2 | g.218584678A>C | CA431228455 | CNOT9 | c.387A>C (p.Thr129=) n.695+1592A>C c.228A>C (p.Thr76=) c.225A>C (p.Thr75=) n.436+1592A>C | |
2 | g.218584678A>G | CA431228456 | CNOT9 | c.387A>G (p.Thr129=) n.695+1592A>G c.228A>G (p.Thr76=) c.225A>G (p.Thr75=) n.436+1592A>G | gnomAD v4 |
2 | g.218584678A>T | CA431228457 | CNOT9 | c.387A>T (p.Thr129=) n.695+1592A>T c.228A>T (p.Thr76=) c.225A>T (p.Thr75=) n.436+1592A>T | |
2 | g.218584679C>A | CA350569138 | CNOT9 | c.388C>A (p.Arg130Ser) n.695+1593C>A c.229C>A (p.Arg77Ser) c.226C>A (p.Arg76Ser) n.436+1593C>A | |
2 | g.218584679C= | CA1328827422 | CNOT9 | c.388C= (p.Arg130=) n.695+1593C= c.229C= (p.Arg77=) c.226C= (p.Arg76=) n.436+1593C= | |
2 | g.218584679C>G | CA350569137 | CNOT9 | c.388C>G (p.Arg130Gly) n.695+1593C>G c.229C>G (p.Arg77Gly) c.226C>G (p.Arg76Gly) n.436+1593C>G | |
2 | g.218584679C>T | CA350569136 | CNOT9 | c.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 |
2 | g.218584680G>A | CA350569139 | CNOT9 | c.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 |
2 | g.218584680G>C | CA350569140 | CNOT9 | c.389G>C (p.Arg130Pro) n.695+1594G>C c.230G>C (p.Arg77Pro) c.227G>C (p.Arg76Pro) n.436+1594G>C | |
2 | g.218584680G= | CA1328827423 | CNOT9 | c.389G= (p.Arg130=) n.695+1594G= c.230G= (p.Arg77=) c.227G= (p.Arg76=) n.436+1594G= | |
2 | g.218584680G>T | CA350569141 | CNOT9 | c.389G>T (p.Arg130Leu) n.695+1594G>T c.230G>T (p.Arg77Leu) c.227G>T (p.Arg76Leu) n.436+1594G>T | COSMIC |
2 | g.218584681T>A | CA431228458 | CNOT9 | c.390T>A (p.Arg130=) n.695+1595T>A c.231T>A (p.Arg77=) c.228T>A (p.Arg76=) n.436+1595T>A | COSMIC |
2 | g.218584681T>C | CA431228459 | CNOT9 | c.390T>C (p.Arg130=) n.695+1595T>C c.231T>C (p.Arg77=) c.228T>C (p.Arg76=) n.436+1595T>C | |
2 | g.218584681T>G | CA431228460 | CNOT9 | c.390T>G (p.Arg130=) n.695+1595T>G c.231T>G (p.Arg77=) c.228T>G (p.Arg76=) n.436+1595T>G | |
2 | g.218584682C>A | CA350569142 | CNOT9 | c.391C>A (p.Pro131Thr) n.695+1596C>A c.232C>A (p.Pro78Thr) c.229C>A (p.Pro77Thr) n.436+1596C>A | |
2 | g.218584682C= | CA1328827424 | CNOT9 | c.391C= (p.Pro131=) n.695+1596C= c.232C= (p.Pro78=) c.229C= (p.Pro77=) n.436+1596C= | |
2 | g.218584682C>G | CA350569143 | CNOT9 | c.391C>G (p.Pro131Ala) n.695+1596C>G c.232C>G (p.Pro78Ala) c.229C>G (p.Pro77Ala) n.436+1596C>G | |
2 | g.218584682C>T | CA16602954 | CNOT9 | c.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 |
2 | g.218584682_218584683delinsTT | CA645517062 | CNOT9 | c.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 |
2 | g.218584683C>A | CA350569144 | CNOT9 | c.392C>A (p.Pro131His) n.695+1597C>A c.233C>A (p.Pro78His) c.230C>A (p.Pro77His) n.436+1597C>A | |
2 | g.218584683C= | CA1328827425 | CNOT9 | c.392C= (p.Pro131=) n.695+1597C= c.233C= (p.Pro78=) c.230C= (p.Pro77=) n.436+1597C= | |
2 | g.218584683C>G | CA350569145 | CNOT9 | c.392C>G (p.Pro131Arg) n.695+1597C>G c.233C>G (p.Pro78Arg) c.230C>G (p.Pro77Arg) n.436+1597C>G | |
2 | g.218584683C>T | CA16602256 | CNOT9 | c.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 |
2 | g.218584683_218584684delinsTT | CA645517063 | CNOT9 | c.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 |
2 | g.218584684C>A | CA431228461 | CNOT9 | c.393C>A (p.Pro131=) n.695+1598C>A c.234C>A (p.Pro78=) c.231C>A (p.Pro77=) n.436+1598C>A | |
2 | g.218584684C>G | CA431228462 | CNOT9 | c.393C>G (p.Pro131=) n.695+1598C>G c.234C>G (p.Pro78=) c.231C>G (p.Pro77=) n.436+1598C>G | |
2 | g.218584684C>T | CA431228463 | CNOT9 | c.393C>T (p.Pro131=) n.695+1598C>T c.234C>T (p.Pro78=) c.231C>T (p.Pro77=) n.436+1598C>T | gnomAD v4 |
2 | g.218584685T>A | CA350569146 | CNOT9 | c.394T>A (p.Phe132Ile) n.695+1599T>A c.235T>A (p.Phe79Ile) c.232T>A (p.Phe78Ile) n.436+1599T>A | |
2 | g.218584685T>C | CA350569147 | CNOT9 | c.394T>C (p.Phe132Leu) n.695+1599T>C c.235T>C (p.Phe79Leu) c.232T>C (p.Phe78Leu) n.436+1599T>C | |
2 | g.218584685T>G | CA350569148 | CNOT9 | c.394T>G (p.Phe132Val) n.695+1599T>G c.235T>G (p.Phe79Val) c.232T>G (p.Phe78Val) n.436+1599T>G | |
2 | g.218584686T>A | CA350569151 | CNOT9 | c.395T>A (p.Phe132Tyr) n.695+1600T>A c.236T>A (p.Phe79Tyr) c.233T>A (p.Phe78Tyr) n.436+1600T>A | |
2 | g.218584686T>C | CA350569149 | CNOT9 | c.395T>C (p.Phe132Ser) n.695+1600T>C c.236T>C (p.Phe79Ser) c.233T>C (p.Phe78Ser) n.436+1600T>C | |
2 | g.218584686T>G | CA350569150 | CNOT9 | c.395T>G (p.Phe132Cys) n.695+1600T>G c.236T>G (p.Phe79Cys) c.233T>G (p.Phe78Cys) n.436+1600T>G | |
2 | g.218584687T>A | CA350569152 | CNOT9 | c.396T>A (p.Phe132Leu) n.695+1601T>A c.237T>A (p.Phe79Leu) c.234T>A (p.Phe78Leu) n.436+1601T>A | |
2 | g.218584687T>C | CA431228464 | CNOT9 | c.396T>C (p.Phe132=) n.695+1601T>C c.237T>C (p.Phe79=) c.234T>C (p.Phe78=) n.436+1601T>C | |
2 | g.218584687T>G | CA350569153 | CNOT9 | c.396T>G (p.Phe132Leu) n.695+1601T>G c.237T>G (p.Phe79Leu) c.234T>G (p.Phe78Leu) n.436+1601T>G | |
2 | g.218584688G>A | CA350569154 | CNOT9 | c.397G>A (p.Glu133Lys) n.695+1602G>A c.238G>A (p.Glu80Lys) c.235G>A (p.Glu79Lys) n.436+1602G>A | |
2 | g.218584688G>C | CA350569156 | CNOT9 | c.397G>C (p.Glu133Gln) n.695+1602G>C c.238G>C (p.Glu80Gln) c.235G>C (p.Glu79Gln) n.436+1602G>C | |
2 | g.218584688G>T | CA350569155 | CNOT9 | c.397G>T (p.Glu133Ter) n.695+1602G>T c.238G>T (p.Glu80Ter) c.235G>T (p.Glu79Ter) n.436+1602G>T | |
2 | g.218584689A>C | CA350569157 | CNOT9 | c.398A>C (p.Glu133Ala) n.695+1603A>C c.239A>C (p.Glu80Ala) c.236A>C (p.Glu79Ala) n.436+1603A>C | |
2 | g.218584689A>G | CA350569159 | CNOT9 | c.398A>G (p.Glu133Gly) n.695+1603A>G c.239A>G (p.Glu80Gly) c.236A>G (p.Glu79Gly) n.436+1603A>G | |
2 | g.218584689A>T | CA350569158 | CNOT9 | c.398A>T (p.Glu133Val) n.695+1603A>T c.239A>T (p.Glu80Val) c.236A>T (p.Glu79Val) n.436+1603A>T | |
2 | g.218584690G>A | CA431228465 | CNOT9 | c.399G>A (p.Glu133=) n.695+1604G>A c.240G>A (p.Glu80=) c.237G>A (p.Glu79=) n.436+1604G>A | gnomAD v4 |
2 | g.218584690G>C | CA350569160 | CNOT9 | c.399G>C (p.Glu133Asp) n.695+1604G>C c.240G>C (p.Glu80Asp) c.237G>C (p.Glu79Asp) n.436+1604G>C | gnomAD v4 |
2 | g.218584690G>T | CA350569161 | CNOT9 | c.399G>T (p.Glu133Asp) n.695+1604G>T c.240G>T (p.Glu80Asp) c.237G>T (p.Glu79Asp) n.436+1604G>T | |
2 | g.218584691T>A | CA350569162 | CNOT9 | c.400T>A (p.Tyr134Asn) n.695+1605T>A c.241T>A (p.Tyr81Asn) c.238T>A (p.Tyr80Asn) n.436+1605T>A | |
2 | g.218584691T>C | CA350569163 | CNOT9 | c.400T>C (p.Tyr134His) n.695+1605T>C c.241T>C (p.Tyr81His) c.238T>C (p.Tyr80His) n.436+1605T>C | |
2 | g.218584691T>G | CA350569164 | CNOT9 | c.400T>G (p.Tyr134Asp) n.695+1605T>G c.241T>G (p.Tyr81Asp) c.238T>G (p.Tyr80Asp) n.436+1605T>G | |
2 | g.218584692A>C | CA350569165 | CNOT9 | c.401A>C (p.Tyr134Ser) n.695+1606A>C c.242A>C (p.Tyr81Ser) c.239A>C (p.Tyr80Ser) n.436+1606A>C | |
2 | g.218584692A>G | CA350569166 | CNOT9 | c.401A>G (p.Tyr134Cys) n.695+1606A>G c.242A>G (p.Tyr81Cys) c.239A>G (p.Tyr80Cys) n.436+1606A>G | |
2 | g.218584692A>T | CA350569167 | CNOT9 | c.401A>T (p.Tyr134Phe) n.695+1606A>T c.242A>T (p.Tyr81Phe) c.239A>T (p.Tyr80Phe) n.436+1606A>T | |
2 | g.218584693T>A | CA350569168 | CNOT9 | c.402T>A (p.Tyr134Ter) n.695+1607T>A c.243T>A (p.Tyr81Ter) c.240T>A (p.Tyr80Ter) n.436+1607T>A | |
2 | g.218584693T>C | CA431228466 | CNOT9 | c.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 |
2 | g.218584693T>G | CA350569169 | CNOT9 | c.402T>G (p.Tyr134Ter) n.695+1607T>G c.243T>G (p.Tyr81Ter) c.240T>G (p.Tyr80Ter) n.436+1607T>G | |
2 | g.218584693T= | CA1328827426 | CNOT9 | c.402T= (p.Tyr134=) n.695+1607T= c.243T= (p.Tyr81=) c.240T= (p.Tyr80=) n.436+1607T= | |
2 | g.218584694C>A | CA350569172 | CNOT9 | c.403C>A (p.Leu135Ile) n.695+1608C>A c.244C>A (p.Leu82Ile) c.241C>A (p.Leu81Ile) n.436+1608C>A | |
2 | g.218584694C>G | CA350569171 | CNOT9 | c.403C>G (p.Leu135Val) n.695+1608C>G c.244C>G (p.Leu82Val) c.241C>G (p.Leu81Val) n.436+1608C>G | |
2 | g.218584694C>T | CA350569170 | CNOT9 | c.403C>T (p.Leu135Phe) n.695+1608C>T c.244C>T (p.Leu82Phe) c.241C>T (p.Leu81Phe) n.436+1608C>T | |
2 | g.218584695T>A | CA350569173 | CNOT9 | c.404T>A (p.Leu135His) n.695+1609T>A c.245T>A (p.Leu82His) c.242T>A (p.Leu81His) n.436+1609T>A | |
2 | g.218584695T>C | CA350569174 | CNOT9 | c.404T>C (p.Leu135Pro) n.695+1609T>C c.245T>C (p.Leu82Pro) c.242T>C (p.Leu81Pro) n.436+1609T>C | |
2 | g.218584695T>G | CA350569175 | CNOT9 | c.404T>G (p.Leu135Arg) n.695+1609T>G c.245T>G (p.Leu82Arg) c.242T>G (p.Leu81Arg) n.436+1609T>G | |
2 | g.218584696C>A | CA431228467 | CNOT9 | c.405C>A (p.Leu135=) n.695+1610C>A c.246C>A (p.Leu82=) c.243C>A (p.Leu81=) n.436+1610C>A | |
2 | g.218584696C= | CA1328827427 | CNOT9 | c.405C= (p.Leu135=) n.695+1610C= c.246C= (p.Leu82=) c.243C= (p.Leu81=) n.436+1610C= | |
2 | g.218584696C>G | CA431228468 | CNOT9 | c.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 |
2 | g.218584696C>T | CA431228469 | CNOT9 | c.405C>T (p.Leu135=) n.695+1610C>T c.246C>T (p.Leu82=) c.243C>T (p.Leu81=) n.436+1610C>T | dbSNP |
2 | g.218584697C>A | CA431228470 | CNOT9 | c.406C>A (p.Arg136=) n.695+1611C>A c.247C>A (p.Arg83=) c.244C>A (p.Arg82=) n.436+1611C>A | dbSNP |
2 | g.218584697C= | CA1328827428 | CNOT9 | c.406C= (p.Arg136=) n.695+1611C= c.247C= (p.Arg83=) c.244C= (p.Arg82=) n.436+1611C= | |
2 | g.218584697C>G | CA350569176 | CNOT9 | c.406C>G (p.Arg136Gly) n.695+1611C>G c.247C>G (p.Arg83Gly) c.244C>G (p.Arg82Gly) n.436+1611C>G | |
2 | g.218584697C>T | CA350569177 | CNOT9 | c.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 |
2 | g.218584698G>A | CA350569178 | CNOT9 | c.407G>A (p.Arg136Gln) n.695+1612G>A c.248G>A (p.Arg83Gln) c.245G>A (p.Arg82Gln) n.436+1612G>A | COSMIC |
2 | g.218584698G>C | CA350569179 | CNOT9 | c.407G>C (p.Arg136Pro) n.695+1612G>C c.248G>C (p.Arg83Pro) c.245G>C (p.Arg82Pro) n.436+1612G>C | |
2 | g.218584698G>T | CA350569180 | CNOT9 | c.407G>T (p.Arg136Leu) n.695+1612G>T c.248G>T (p.Arg83Leu) c.245G>T (p.Arg82Leu) n.436+1612G>T | |
2 | g.218584699G>A | CA431228472 | CNOT9 | c.408G>A (p.Arg136=) n.695+1613G>A c.249G>A (p.Arg83=) c.246G>A (p.Arg82=) n.436+1613G>A | gnomAD v4 |
2 | g.218584699G>C | CA431228473 | CNOT9 | c.408G>C (p.Arg136=) n.695+1613G>C c.249G>C (p.Arg83=) c.246G>C (p.Arg82=) n.436+1613G>C | |
2 | g.218584699G= | CA1328827429 | CNOT9 | c.408G= (p.Arg136=) n.695+1613G= c.249G= (p.Arg83=) c.246G= (p.Arg82=) n.436+1613G= | |
2 | g.218584699G>T | CA431228474 | CNOT9 | c.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 |
2 | g.218584700C>A | CA350569181 | CNOT9 | c.409C>A (p.Leu137Ile) n.695+1614C>A c.250C>A (p.Leu84Ile) c.247C>A (p.Leu83Ile) n.436+1614C>A | |
2 | g.218584700C>G | CA350569182 | CNOT9 | c.409C>G (p.Leu137Val) n.695+1614C>G c.250C>G (p.Leu84Val) c.247C>G (p.Leu83Val) n.436+1614C>G | |
2 | g.218584700C>T | CA350569183 | CNOT9 | c.409C>T (p.Leu137Phe) n.695+1614C>T c.250C>T (p.Leu84Phe) c.247C>T (p.Leu83Phe) n.436+1614C>T | |
2 | g.218584701T>A | CA350569186 | CNOT9 | c.410T>A (p.Leu137His) n.695+1615T>A c.251T>A (p.Leu84His) c.248T>A (p.Leu83His) n.436+1615T>A | |
2 | g.218584701T>C | CA350569185 | CNOT9 | c.410T>C (p.Leu137Pro) n.695+1615T>C c.251T>C (p.Leu84Pro) c.248T>C (p.Leu83Pro) n.436+1615T>C | |
2 | g.218584701T>G | CA350569184 | CNOT9 | c.410T>G (p.Leu137Arg) n.695+1615T>G c.251T>G (p.Leu84Arg) c.248T>G (p.Leu83Arg) n.436+1615T>G | |
2 | g.218584702C>A | CA431228476 | CNOT9 | c.411C>A (p.Leu137=) n.695+1616C>A c.252C>A (p.Leu84=) c.249C>A (p.Leu83=) n.436+1616C>A | |
2 | g.218584702C= | CA1328827430 | CNOT9 | c.411C= (p.Leu137=) n.695+1616C= c.252C= (p.Leu84=) c.249C= (p.Leu83=) n.436+1616C= | |
2 | g.218584702C>G | CA431228475 | CNOT9 | c.411C>G (p.Leu137=) n.695+1616C>G c.252C>G (p.Leu84=) c.249C>G (p.Leu83=) n.436+1616C>G | |
2 | g.218584702C>T | CA2107699 | CNOT9 | c.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 |
2 | g.218584703A>C | CA350569187 | CNOT9 | c.412A>C (p.Thr138Pro) n.695+1617A>C c.253A>C (p.Thr85Pro) c.250A>C (p.Thr84Pro) n.436+1617A>C | |
2 | g.218584703A>G | CA350569188 | CNOT9 | c.412A>G (p.Thr138Ala) n.695+1617A>G c.253A>G (p.Thr85Ala) c.250A>G (p.Thr84Ala) n.436+1617A>G | |
2 | g.218584703A>T | CA350569189 | CNOT9 | c.412A>T (p.Thr138Ser) n.695+1617A>T c.253A>T (p.Thr85Ser) c.250A>T (p.Thr84Ser) n.436+1617A>T | |
2 | g.218584704C>A | CA350569190 | CNOT9 | c.413C>A (p.Thr138Asn) n.695+1618C>A c.254C>A (p.Thr85Asn) c.251C>A (p.Thr84Asn) n.436+1618C>A | gnomAD v4 |
2 | g.218584704C>G | CA350569191 | CNOT9 | c.413C>G (p.Thr138Ser) n.695+1618C>G c.254C>G (p.Thr85Ser) c.251C>G (p.Thr84Ser) n.436+1618C>G | |
2 | g.218584704C>T | CA350569192 | CNOT9 | c.413C>T (p.Thr138Ile) n.695+1618C>T c.254C>T (p.Thr85Ile) c.251C>T (p.Thr84Ile) n.436+1618C>T | |
2 | g.218584705del | CA2577244319 | CNOT9 | c.414del (p.Ser139AlafsTer9) c.414del (p.Ser139AlafsTer6) n.695+1619del c.255del (p.Ser86AlafsTer9) c.252del (p.Ser85AlafsTer9) n.436+1619del | |
2 | g.218584705C>A | CA431228477 | CNOT9 | c.414C>A (p.Thr138=) n.695+1619C>A c.255C>A (p.Thr85=) c.252C>A (p.Thr84=) n.436+1619C>A | |
2 | g.218584705C>G | CA431228478 | CNOT9 | c.414C>G (p.Thr138=) n.695+1619C>G c.255C>G (p.Thr85=) c.252C>G (p.Thr84=) n.436+1619C>G | |
2 | g.218584705C>T | CA431228479 | CNOT9 | c.414C>T (p.Thr138=) n.695+1619C>T c.255C>T (p.Thr85=) c.252C>T (p.Thr84=) n.436+1619C>T | |
2 | g.218584706A>C | CA350569193 | CNOT9 | c.415A>C (p.Ser139Arg) n.695+1620A>C c.256A>C (p.Ser86Arg) c.253A>C (p.Ser85Arg) n.436+1620A>C | |
2 | g.218584706A>G | CA350569194 | CNOT9 | c.415A>G (p.Ser139Gly) n.695+1620A>G c.256A>G (p.Ser86Gly) c.253A>G (p.Ser85Gly) n.436+1620A>G | |
2 | g.218584706A>T | CA350569195 | CNOT9 | c.415A>T (p.Ser139Cys) n.695+1620A>T c.256A>T (p.Ser86Cys) c.253A>T (p.Ser85Cys) n.436+1620A>T | |
2 | g.218584707G>A | CA350569196 | CNOT9 | c.416G>A (p.Ser139Asn) n.695+1621G>A c.257G>A (p.Ser86Asn) c.254G>A (p.Ser85Asn) n.436+1621G>A | COSMIC |
2 | g.218584707G>C | CA350569197 | CNOT9 | c.416G>C (p.Ser139Thr) n.695+1621G>C c.257G>C (p.Ser86Thr) c.254G>C (p.Ser85Thr) n.436+1621G>C | |
2 | g.218584707G>T | CA350569198 | CNOT9 | c.416G>T (p.Ser139Ile) n.695+1621G>T c.257G>T (p.Ser86Ile) c.254G>T (p.Ser85Ile) n.436+1621G>T | |
2 | g.218584708C>A | CA350569199 | CNOT9 | c.417C>A (p.Ser139Arg) n.695+1622C>A c.258C>A (p.Ser86Arg) c.255C>A (p.Ser85Arg) n.436+1622C>A | |
2 | g.218584708C>G | CA350569200 | CNOT9 | c.417C>G (p.Ser139Arg) n.695+1622C>G c.258C>G (p.Ser86Arg) c.255C>G (p.Ser85Arg) n.436+1622C>G | |
2 | g.218584708C>T | CA431228480 | CNOT9 | c.417C>T (p.Ser139=) n.695+1622C>T c.258C>T (p.Ser86=) c.255C>T (p.Ser85=) n.436+1622C>T | gnomAD v4 |
2 | g.218584709C>A | CA350569201 | CNOT9 | c.418C>A (p.Leu140Ile) n.695+1623C>A c.259C>A (p.Leu87Ile) c.256C>A (p.Leu86Ile) n.436+1623C>A | |
2 | g.218584709C>G | CA350569202 | CNOT9 | c.418C>G (p.Leu140Val) n.695+1623C>G c.259C>G (p.Leu87Val) c.256C>G (p.Leu86Val) n.436+1623C>G | |
2 | g.218584709C>T | CA350569203 | CNOT9 | c.418C>T (p.Leu140Phe) n.695+1623C>T c.259C>T (p.Leu87Phe) c.256C>T (p.Leu86Phe) n.436+1623C>T | |
2 | g.218584710T>A | CA350569204 | CNOT9 | c.419T>A (p.Leu140His) n.695+1624T>A c.260T>A (p.Leu87His) c.257T>A (p.Leu86His) n.436+1624T>A | |
2 | g.218584710T>C | CA350569205 | CNOT9 | c.419T>C (p.Leu140Pro) n.695+1624T>C c.260T>C (p.Leu87Pro) c.257T>C (p.Leu86Pro) n.436+1624T>C | |
2 | g.218584710T>G | CA350569206 | CNOT9 | c.419T>G (p.Leu140Arg) n.695+1624T>G c.260T>G (p.Leu87Arg) c.257T>G (p.Leu86Arg) n.436+1624T>G | |
2 | g.218584711T>A | CA431228481 | CNOT9 | c.420T>A (p.Leu140=) n.695+1625T>A c.261T>A (p.Leu87=) c.258T>A (p.Leu86=) n.436+1625T>A | |
2 | g.218584711T>C | CA431228482 | CNOT9 | c.420T>C (p.Leu140=) n.695+1625T>C c.261T>C (p.Leu87=) c.258T>C (p.Leu86=) n.436+1625T>C | |
2 | g.218584711T>G | CA431228483 | CNOT9 | c.420T>G (p.Leu140=) n.695+1625T>G c.261T>G (p.Leu87=) c.258T>G (p.Leu86=) n.436+1625T>G | |
2 | g.218584712G>A | CA350569207 | CNOT9 | c.421G>A (p.Gly141Arg) n.695+1626G>A c.262G>A (p.Gly88Arg) c.259G>A (p.Gly87Arg) n.436+1626G>A | |
2 | g.218584712G>C | CA350569208 | CNOT9 | c.421G>C (p.Gly141Arg) n.695+1626G>C c.262G>C (p.Gly88Arg) c.259G>C (p.Gly87Arg) n.436+1626G>C | |
2 | g.218584712G>T | CA350569209 | CNOT9 | c.421G>T (p.Gly141Ter) n.695+1626G>T c.262G>T (p.Gly88Ter) c.259G>T (p.Gly87Ter) n.436+1626G>T | |
2 | g.218584713G>A | CA350569210 | CNOT9 | c.422G>A (p.Gly141Glu) n.695+1627G>A c.263G>A (p.Gly88Glu) c.260G>A (p.Gly87Glu) n.436+1627G>A | |
2 | g.218584713G>C | CA350569211 | CNOT9 | c.422G>C (p.Gly141Ala) n.695+1627G>C c.263G>C (p.Gly88Ala) c.260G>C (p.Gly87Ala) n.436+1627G>C | |
2 | g.218584713G>T | CA350569212 | CNOT9 | c.422G>T (p.Gly141Val) n.695+1627G>T c.263G>T (p.Gly88Val) c.260G>T (p.Gly87Val) n.436+1627G>T | |
2 | g.218584714A>C | CA431228484 | CNOT9 | c.423A>C (p.Gly141=) n.695+1628A>C c.264A>C (p.Gly88=) c.261A>C (p.Gly87=) n.436+1628A>C | |
2 | g.218584714A>G | CA431228485 | CNOT9 | c.423A>G (p.Gly141=) n.695+1628A>G c.264A>G (p.Gly88=) c.261A>G (p.Gly87=) n.436+1628A>G | |
2 | g.218584714A>T | CA431228486 | CNOT9 | c.423A>T (p.Gly141=) n.695+1628A>T c.264A>T (p.Gly88=) c.261A>T (p.Gly87=) n.436+1628A>T | |
2 | g.218584715G>A | CA350569214 | CNOT9 | c.424G>A (p.Val142Ile) n.695+1629G>A c.265G>A (p.Val89Ile) c.262G>A (p.Val88Ile) n.436+1629G>A | |
2 | g.218584715G>C | CA350569215 | CNOT9 | c.424G>C (p.Val142Leu) n.695+1629G>C c.265G>C (p.Val89Leu) c.262G>C (p.Val88Leu) n.436+1629G>C | |
2 | g.218584715G>T | CA350569213 | CNOT9 | c.424G>T (p.Val142Phe) n.695+1629G>T c.265G>T (p.Val89Phe) c.262G>T (p.Val88Phe) n.436+1629G>T |