| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.141574101_141574119delinsGGGAACAGGAGCACGACTA | CA1587248458 | DIAPH1 | c.1731_1749delinsTAGTCGTGCTCCTGTTCCC (p.Pro577=) c.1708_1726delinsTAGTCGTGCTCCTGTTCCC (n.1708_1726delinsTAGTCGTGCTCCTGTTCCC) c.1599_1617delinsTAGTCGTGCTCCTGTTCCC (p.Pro533=) c.1704_1722delinsTAGTCGTGCTCCTGTTCCC (p.Pro568=) c.1695_1713delinsTAGTCGTGCTCCTGTTCCC (p.Pro565=) c.1665_1683delinsTAGTCGTGCTCCTGTTCCC (p.Pro555=) | |
| 5 | g.141574109_141574126del | CA1587248461 | DIAPH1 | c.1731_1748del (p.Ser578_Pro583del) c.1708_1725del (n.1708_1725del) c.1599_1616del (p.Ser534_Pro539del) c.1704_1721del (p.Ser569_Pro574del) c.1695_1712del (p.Ser566_Pro571del) c.1665_1682del (p.Ser556_Pro561del) | dbSNP |
| 5 | g.141574114C>A | CA361521662 | DIAPH1 | c.1736G>T (p.Arg579Leu) c.1713G>T (n.1713G>T) c.1604G>T (p.Arg535Leu) c.1709G>T (p.Arg570Leu) c.1700G>T (p.Arg567Leu) c.1670G>T (p.Arg557Leu) | |
| 5 | g.141574114C= | CA1587248520 | DIAPH1 | c.1736G= (p.Arg579=) c.1713G= (n.1713G=) c.1604G= (p.Arg535=) c.1709G= (p.Arg570=) c.1700G= (p.Arg567=) c.1670G= (p.Arg557=) | |
| 5 | g.141574114C>G | CA3479222 | DIAPH1 | c.1736G>C (p.Arg579Pro) c.1713G>C (n.1713G>C) c.1604G>C (p.Arg535Pro) c.1709G>C (p.Arg570Pro) c.1700G>C (p.Arg567Pro) c.1670G>C (p.Arg557Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.141574114C>T | CA240726 | DIAPH1 | c.1736G>A (p.Arg579His) c.1713G>A (n.1713G>A) c.1604G>A (p.Arg535His) c.1709G>A (p.Arg570His) c.1700G>A (p.Arg567His) c.1670G>A (p.Arg557His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.141574115G>A | CA3479223 | DIAPH1 | c.1735C>T (p.Arg579Cys) c.1712C>T (n.1712C>T) c.1603C>T (p.Arg535Cys) c.1708C>T (p.Arg570Cys) c.1699C>T (p.Arg567Cys) c.1669C>T (p.Arg557Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.141574115G>C | CA361521689 | DIAPH1 | c.1735C>G (p.Arg579Gly) c.1712C>G (n.1712C>G) c.1603C>G (p.Arg535Gly) c.1708C>G (p.Arg570Gly) c.1699C>G (p.Arg567Gly) c.1669C>G (p.Arg557Gly) | |
| 5 | g.141574115G= | CA1587248525 | DIAPH1 | c.1735C= (p.Arg579=) c.1712C= (n.1712C=) c.1603C= (p.Arg535=) c.1708C= (p.Arg570=) c.1699C= (p.Arg567=) c.1669C= (p.Arg557=) | |
| 5 | g.141574115G>T | CA361521685 | DIAPH1 | c.1735C>A (p.Arg579Ser) c.1712C>A (n.1712C>A) c.1603C>A (p.Arg535Ser) c.1708C>A (p.Arg570Ser) c.1699C>A (p.Arg567Ser) c.1669C>A (p.Arg557Ser) | gnomAD v3 gnomAD v4 |
| 5 | g.141574116A>C | CA361521693 | DIAPH1 | c.1734T>G (p.Ser578Arg) c.1711T>G (n.1711T>G) c.1602T>G (p.Ser534Arg) c.1707T>G (p.Ser569Arg) c.1698T>G (p.Ser566Arg) c.1668T>G (p.Ser556Arg) | ClinVar gnomAD v4 |
| 5 | g.141574116A>G | CA446892392 | DIAPH1 | c.1734T>C (p.Ser578=) c.1711T>C (n.1711T>C) c.1602T>C (p.Ser534=) c.1707T>C (p.Ser569=) c.1698T>C (p.Ser566=) c.1668T>C (p.Ser556=) | |
| 5 | g.141574116A>T | CA361521698 | DIAPH1 | c.1734T>A (p.Ser578Arg) c.1711T>A (n.1711T>A) c.1602T>A (p.Ser534Arg) c.1707T>A (p.Ser569Arg) c.1698T>A (p.Ser566Arg) c.1668T>A (p.Ser556Arg) | |
| 5 | g.141574117C>A | CA3479224 | DIAPH1 | c.1733G>T (p.Ser578Ile) c.1710G>T (n.1710G>T) c.1601G>T (p.Ser534Ile) c.1706G>T (p.Ser569Ile) c.1697G>T (p.Ser566Ile) c.1667G>T (p.Ser556Ile) | dbSNP ExAC gnomAD v4 |
| 5 | g.141574117C= | CA1587248527 | DIAPH1 | c.1733G= (p.Ser578=) c.1710G= (n.1710G=) c.1601G= (p.Ser534=) c.1706G= (p.Ser569=) c.1697G= (p.Ser566=) c.1667G= (p.Ser556=) | |
| 5 | g.141574117C>G | CA361521706 | DIAPH1 | c.1733G>C (p.Ser578Thr) c.1710G>C (n.1710G>C) c.1601G>C (p.Ser534Thr) c.1706G>C (p.Ser569Thr) c.1697G>C (p.Ser566Thr) c.1667G>C (p.Ser556Thr) | |
| 5 | g.141574117C>T | CA361521710 | DIAPH1 | c.1733G>A (p.Ser578Asn) c.1710G>A (n.1710G>A) c.1601G>A (p.Ser534Asn) c.1706G>A (p.Ser569Asn) c.1697G>A (p.Ser566Asn) c.1667G>A (p.Ser556Asn) | dbSNP |
| 5 | g.141574118T>A | CA361521729 | DIAPH1 | c.1732A>T (p.Ser578Cys) c.1709A>T (n.1709A>T) c.1600A>T (p.Ser534Cys) c.1705A>T (p.Ser569Cys) c.1696A>T (p.Ser566Cys) c.1666A>T (p.Ser556Cys) | |
| 5 | g.141574118T>C | CA3479225 | DIAPH1 | c.1732A>G (p.Ser578Gly) c.1709A>G (n.1709A>G) c.1600A>G (p.Ser534Gly) c.1705A>G (p.Ser569Gly) c.1696A>G (p.Ser566Gly) c.1666A>G (p.Ser556Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.141574118T>G | CA361521716 | DIAPH1 | c.1732A>C (p.Ser578Arg) c.1709A>C (n.1709A>C) c.1600A>C (p.Ser534Arg) c.1705A>C (p.Ser569Arg) c.1696A>C (p.Ser566Arg) c.1666A>C (p.Ser556Arg) | |
| 5 | g.141574118T= | CA1587248529 | DIAPH1 | c.1732A= (p.Ser578=) c.1709A= (n.1709A=) c.1600A= (p.Ser534=) c.1705A= (p.Ser569=) c.1696A= (p.Ser566=) c.1666A= (p.Ser556=) | |
| 5 | g.141574119A>C | CA446892393 | DIAPH1 | c.1731T>G (p.Pro577=) c.1708T>G (n.1708T>G) c.1599T>G (p.Pro533=) c.1704T>G (p.Pro568=) c.1695T>G (p.Pro565=) c.1665T>G (p.Pro555=) | dbSNP |
| 5 | g.141574119A>G | CA446892394 | DIAPH1 | c.1731T>C (p.Pro577=) c.1708T>C (n.1708T>C) c.1599T>C (p.Pro533=) c.1704T>C (p.Pro568=) c.1695T>C (p.Pro565=) c.1665T>C (p.Pro555=) | |
| 5 | g.141574119A>T | CA446892395 | DIAPH1 | c.1731T>A (p.Pro577=) c.1708T>A (n.1708T>A) c.1599T>A (p.Pro533=) c.1704T>A (p.Pro568=) c.1695T>A (p.Pro565=) c.1665T>A (p.Pro555=) | |
| 5 | g.141574120G>A | CA361521737 | DIAPH1 | c.1730C>T (p.Pro577Leu) c.1707C>T (n.1707C>T) c.1598C>T (p.Pro533Leu) c.1703C>T (p.Pro568Leu) c.1694C>T (p.Pro565Leu) c.1664C>T (p.Pro555Leu) | |
| 5 | g.141574120G>C | CA361521740 | DIAPH1 | c.1730C>G (p.Pro577Arg) c.1707C>G (n.1707C>G) c.1598C>G (p.Pro533Arg) c.1703C>G (p.Pro568Arg) c.1694C>G (p.Pro565Arg) c.1664C>G (p.Pro555Arg) | |
| 5 | g.141574120G>T | CA361521744 | DIAPH1 | c.1730C>A (p.Pro577His) c.1707C>A (n.1707C>A) c.1598C>A (p.Pro533His) c.1703C>A (p.Pro568His) c.1694C>A (p.Pro565His) c.1664C>A (p.Pro555His) | |
| 5 | g.141574121G>A | CA361521750 | DIAPH1 | c.1729C>T (p.Pro577Ser) c.1706C>T (n.1706C>T) c.1597C>T (p.Pro533Ser) c.1702C>T (p.Pro568Ser) c.1693C>T (p.Pro565Ser) c.1663C>T (p.Pro555Ser) | dbSNP gnomAD v4 |
| 5 | g.141574121G>C | CA361521755 | DIAPH1 | c.1729C>G (p.Pro577Ala) c.1706C>G (n.1706C>G) c.1597C>G (p.Pro533Ala) c.1702C>G (p.Pro568Ala) c.1693C>G (p.Pro565Ala) c.1663C>G (p.Pro555Ala) | dbSNP |
| 5 | g.141574121G= | CA1587248532 | DIAPH1 | c.1729C= (p.Pro577=) c.1706C= (n.1706C=) c.1597C= (p.Pro533=) c.1702C= (p.Pro568=) c.1693C= (p.Pro565=) c.1663C= (p.Pro555=) | |
| 5 | g.141574121G>T | CA361521758 | DIAPH1 | c.1729C>A (p.Pro577Thr) c.1706C>A (n.1706C>A) c.1597C>A (p.Pro533Thr) c.1702C>A (p.Pro568Thr) c.1693C>A (p.Pro565Thr) c.1663C>A (p.Pro555Thr) | |
| 5 | g.141574122A>C | CA446892396 | DIAPH1 | c.1728T>G (p.Val576=) c.1705T>G (n.1705T>G) c.1596T>G (p.Val532=) c.1701T>G (p.Val567=) c.1692T>G (p.Val564=) c.1662T>G (p.Val554=) | |
| 5 | g.141574122A>G | CA446892398 | DIAPH1 | c.1728T>C (p.Val576=) c.1705T>C (n.1705T>C) c.1596T>C (p.Val532=) c.1701T>C (p.Val567=) c.1692T>C (p.Val564=) c.1662T>C (p.Val554=) | |
| 5 | g.141574122A>T | CA446892397 | DIAPH1 | c.1728T>A (p.Val576=) c.1705T>A (n.1705T>A) c.1596T>A (p.Val532=) c.1701T>A (p.Val567=) c.1692T>A (p.Val564=) c.1662T>A (p.Val554=) | |
| 5 | g.141574123A>C | CA361521768 | DIAPH1 | c.1727T>G (p.Val576Gly) c.1704T>G (n.1704T>G) c.1595T>G (p.Val532Gly) c.1700T>G (p.Val567Gly) c.1691T>G (p.Val564Gly) c.1661T>G (p.Val554Gly) | |
| 5 | g.141574123A>G | CA361521762 | DIAPH1 | c.1727T>C (p.Val576Ala) c.1704T>C (n.1704T>C) c.1595T>C (p.Val532Ala) c.1700T>C (p.Val567Ala) c.1691T>C (p.Val564Ala) c.1661T>C (p.Val554Ala) | ClinVar |
| 5 | g.141574123A>T | CA361521766 | DIAPH1 | c.1727T>A (p.Val576Asp) c.1704T>A (n.1704T>A) c.1595T>A (p.Val532Asp) c.1700T>A (p.Val567Asp) c.1691T>A (p.Val564Asp) c.1661T>A (p.Val554Asp) | |
| 5 | g.141574124C>A | CA361521775 | DIAPH1 | c.1726G>T (p.Val576Phe) c.1703G>T (n.1703G>T) c.1594G>T (p.Val532Phe) c.1699G>T (p.Val567Phe) c.1690G>T (p.Val564Phe) c.1660G>T (p.Val554Phe) | |
| 5 | g.141574124C>G | CA361521776 | DIAPH1 | c.1726G>C (p.Val576Leu) c.1703G>C (n.1703G>C) c.1594G>C (p.Val532Leu) c.1699G>C (p.Val567Leu) c.1690G>C (p.Val564Leu) c.1660G>C (p.Val554Leu) | |
| 5 | g.141574124C>T | CA361521781 | DIAPH1 | c.1726G>A (p.Val576Ile) c.1703G>A (n.1703G>A) c.1594G>A (p.Val532Ile) c.1699G>A (p.Val567Ile) c.1690G>A (p.Val564Ile) c.1660G>A (p.Val554Ile) | ClinVar |
| 5 | g.141574125A= | CA1587248536 | DIAPH1 | c.1725T= (p.Ser575=) c.1702T= (n.1702T=) c.1593T= (p.Ser531=) c.1698T= (p.Ser566=) c.1689T= (p.Ser563=) c.1659T= (p.Ser553=) | |
| 5 | g.141574125A>C | CA446892399 | DIAPH1 | c.1725T>G (p.Ser575=) c.1702T>G (n.1702T>G) c.1593T>G (p.Ser531=) c.1698T>G (p.Ser566=) c.1689T>G (p.Ser563=) c.1659T>G (p.Ser553=) | |
| 5 | g.141574125A>G | CA446892400 | DIAPH1 | c.1725T>C (p.Ser575=) c.1702T>C (n.1702T>C) c.1593T>C (p.Ser531=) c.1698T>C (p.Ser566=) c.1689T>C (p.Ser563=) c.1659T>C (p.Ser553=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.141574125A>T | CA446892401 | DIAPH1 | c.1725T>A (p.Ser575=) c.1702T>A (n.1702T>A) c.1593T>A (p.Ser531=) c.1698T>A (p.Ser566=) c.1689T>A (p.Ser563=) c.1659T>A (p.Ser553=) | |
| 5 | g.141574126G>A | CA361521786 | DIAPH1 | c.1724C>T (p.Ser575Phe) c.1701C>T (n.1701C>T) c.1592C>T (p.Ser531Phe) c.1697C>T (p.Ser566Phe) c.1688C>T (p.Ser563Phe) c.1658C>T (p.Ser553Phe) | ClinVar gnomAD v4 |
| 5 | g.141574126G>C | CA361521788 | DIAPH1 | c.1724C>G (p.Ser575Cys) c.1701C>G (n.1701C>G) c.1592C>G (p.Ser531Cys) c.1697C>G (p.Ser566Cys) c.1688C>G (p.Ser563Cys) c.1658C>G (p.Ser553Cys) | |
| 5 | g.141574126G>T | CA361521794 | DIAPH1 | c.1724C>A (p.Ser575Tyr) c.1701C>A (n.1701C>A) c.1592C>A (p.Ser531Tyr) c.1697C>A (p.Ser566Tyr) c.1688C>A (p.Ser563Tyr) c.1658C>A (p.Ser553Tyr) | |
| 5 | g.141574127A= | CA1587248542 | DIAPH1 | c.1723T= (p.Ser575=) c.1700T= (n.1700T=) c.1591T= (p.Ser531=) c.1696T= (p.Ser566=) c.1687T= (p.Ser563=) c.1657T= (p.Ser553=) | |
| 5 | g.141574127A>C | CA361521800 | DIAPH1 | c.1723T>G (p.Ser575Ala) c.1700T>G (n.1700T>G) c.1591T>G (p.Ser531Ala) c.1696T>G (p.Ser566Ala) c.1687T>G (p.Ser563Ala) c.1657T>G (p.Ser553Ala) | |
| 5 | g.141574127A>G | CA361521804 | DIAPH1 | c.1723T>C (p.Ser575Pro) c.1700T>C (n.1700T>C) c.1591T>C (p.Ser531Pro) c.1696T>C (p.Ser566Pro) c.1687T>C (p.Ser563Pro) c.1657T>C (p.Ser553Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.141574127A>T | CA361521808 | DIAPH1 | c.1723T>A (p.Ser575Thr) c.1700T>A (n.1700T>A) c.1591T>A (p.Ser531Thr) c.1696T>A (p.Ser566Thr) c.1687T>A (p.Ser563Thr) c.1657T>A (p.Ser553Thr) | |
| 5 | g.141574128A>C | CA446892402 | DIAPH1 | c.1722T>G (p.Pro574=) c.1699T>G (n.1699T>G) c.1590T>G (p.Pro530=) c.1695T>G (p.Pro565=) c.1686T>G (p.Pro562=) c.1656T>G (p.Pro552=) | |
| 5 | g.141574128A>G | CA446892403 | DIAPH1 | c.1722T>C (p.Pro574=) c.1699T>C (n.1699T>C) c.1590T>C (p.Pro530=) c.1695T>C (p.Pro565=) c.1686T>C (p.Pro562=) c.1656T>C (p.Pro552=) | gnomAD v4 |
| 5 | g.141574128A>T | CA446892404 | DIAPH1 | c.1722T>A (p.Pro574=) c.1699T>A (n.1699T>A) c.1590T>A (p.Pro530=) c.1695T>A (p.Pro565=) c.1686T>A (p.Pro562=) c.1656T>A (p.Pro552=) | |
| 5 | g.141574129G>A | CA128437429 | DIAPH1 | c.1721C>T (p.Pro574Leu) c.1698C>T (n.1698C>T) c.1589C>T (p.Pro530Leu) c.1694C>T (p.Pro565Leu) c.1685C>T (p.Pro562Leu) c.1655C>T (p.Pro552Leu) | dbSNP |
| 5 | g.141574129G>C | CA361521815 | DIAPH1 | c.1721C>G (p.Pro574Arg) c.1698C>G (n.1698C>G) c.1589C>G (p.Pro530Arg) c.1694C>G (p.Pro565Arg) c.1685C>G (p.Pro562Arg) c.1655C>G (p.Pro552Arg) | |
| 5 | g.141574129G= | CA1587248548 | DIAPH1 | c.1721C= (p.Pro574=) c.1698C= (n.1698C=) c.1589C= (p.Pro530=) c.1694C= (p.Pro565=) c.1685C= (p.Pro562=) c.1655C= (p.Pro552=) | |
| 5 | g.141574129G>T | CA361521819 | DIAPH1 | c.1721C>A (p.Pro574His) c.1698C>A (n.1698C>A) c.1589C>A (p.Pro530His) c.1694C>A (p.Pro565His) c.1685C>A (p.Pro562His) c.1655C>A (p.Pro552His) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.141574130G>A | CA361521824 | DIAPH1 | c.1720C>T (p.Pro574Ser) c.1697C>T (n.1697C>T) c.1588C>T (p.Pro530Ser) c.1693C>T (p.Pro565Ser) c.1684C>T (p.Pro562Ser) c.1654C>T (p.Pro552Ser) | |
| 5 | g.141574130G>C | CA361521832 | DIAPH1 | c.1720C>G (p.Pro574Ala) c.1697C>G (n.1697C>G) c.1588C>G (p.Pro530Ala) c.1693C>G (p.Pro565Ala) c.1684C>G (p.Pro562Ala) c.1654C>G (p.Pro552Ala) | |
| 5 | g.141574130G>T | CA361521827 | DIAPH1 | c.1720C>A (p.Pro574Thr) c.1697C>A (n.1697C>A) c.1588C>A (p.Pro530Thr) c.1693C>A (p.Pro565Thr) c.1684C>A (p.Pro562Thr) c.1654C>A (p.Pro552Thr) | |
| 5 | g.141574131A>C | CA446892405 | DIAPH1 | c.1719T>G (p.Pro573=) c.1696T>G (n.1696T>G) c.1587T>G (p.Pro529=) c.1692T>G (p.Pro564=) c.1683T>G (p.Pro561=) c.1653T>G (p.Pro551=) | gnomAD v4 |
| 5 | g.141574131A>G | CA446892406 | DIAPH1 | c.1719T>C (p.Pro573=) c.1696T>C (n.1696T>C) c.1587T>C (p.Pro529=) c.1692T>C (p.Pro564=) c.1683T>C (p.Pro561=) c.1653T>C (p.Pro551=) | |
| 5 | g.141574131A>T | CA446892407 | DIAPH1 | c.1719T>A (p.Pro573=) c.1696T>A (n.1696T>A) c.1587T>A (p.Pro529=) c.1692T>A (p.Pro564=) c.1683T>A (p.Pro561=) c.1653T>A (p.Pro551=) | |
| 5 | g.141574132G>A | CA361521845 | DIAPH1 | c.1718C>T (p.Pro573Leu) c.1695C>T (n.1695C>T) c.1586C>T (p.Pro529Leu) c.1691C>T (p.Pro564Leu) c.1682C>T (p.Pro561Leu) c.1652C>T (p.Pro551Leu) | gnomAD v4 |
| 5 | g.141574132G>C | CA361521848 | DIAPH1 | c.1718C>G (p.Pro573Arg) c.1695C>G (n.1695C>G) c.1586C>G (p.Pro529Arg) c.1691C>G (p.Pro564Arg) c.1682C>G (p.Pro561Arg) c.1652C>G (p.Pro551Arg) | |
| 5 | g.141574132G>T | CA361521849 | DIAPH1 | c.1718C>A (p.Pro573His) c.1695C>A (n.1695C>A) c.1586C>A (p.Pro529His) c.1691C>A (p.Pro564His) c.1682C>A (p.Pro561His) c.1652C>A (p.Pro551His) | |
| 5 | g.141574133G>A | CA361521850 | DIAPH1 | c.1717C>T (p.Pro573Ser) c.1694C>T (n.1694C>T) c.1585C>T (p.Pro529Ser) c.1690C>T (p.Pro564Ser) c.1681C>T (p.Pro561Ser) c.1651C>T (p.Pro551Ser) | gnomAD v4 |
| 5 | g.141574133G>C | CA361521852 | DIAPH1 | c.1717C>G (p.Pro573Ala) c.1694C>G (n.1694C>G) c.1585C>G (p.Pro529Ala) c.1690C>G (p.Pro564Ala) c.1681C>G (p.Pro561Ala) c.1651C>G (p.Pro551Ala) | |
| 5 | g.141574133G>T | CA361521855 | DIAPH1 | c.1717C>A (p.Pro573Thr) c.1694C>A (n.1694C>A) c.1585C>A (p.Pro529Thr) c.1690C>A (p.Pro564Thr) c.1681C>A (p.Pro561Thr) c.1651C>A (p.Pro551Thr) | ClinVar gnomAD v4 |
| 5 | g.141574134T>A | CA446892408 | DIAPH1 | c.1716A>T (p.Val572=) c.1693A>T (n.1693A>T) c.1584A>T (p.Val528=) c.1689A>T (p.Val563=) c.1680A>T (p.Val560=) c.1650A>T (p.Val550=) | |
| 5 | g.141574134T>C | CA128437430 | DIAPH1 | c.1716A>G (p.Val572=) c.1693A>G (n.1693A>G) c.1584A>G (p.Val528=) c.1689A>G (p.Val563=) c.1680A>G (p.Val560=) c.1650A>G (p.Val550=) | dbSNP gnomAD v4 |
| 5 | g.141574134T>G | CA446892409 | DIAPH1 | c.1716A>C (p.Val572=) c.1693A>C (n.1693A>C) c.1584A>C (p.Val528=) c.1689A>C (p.Val563=) c.1680A>C (p.Val560=) c.1650A>C (p.Val550=) | |
| 5 | g.141574134T= | CA1587248553 | DIAPH1 | c.1716A= (p.Val572=) c.1693A= (n.1693A=) c.1584A= (p.Val528=) c.1689A= (p.Val563=) c.1680A= (p.Val560=) c.1650A= (p.Val550=) | |
| 5 | g.141574135A>C | CA361521858 | DIAPH1 | c.1715T>G (p.Val572Gly) c.1692T>G (n.1692T>G) c.1583T>G (p.Val528Gly) c.1688T>G (p.Val563Gly) c.1679T>G (p.Val560Gly) c.1649T>G (p.Val550Gly) | |
| 5 | g.141574135A>G | CA361521863 | DIAPH1 | c.1715T>C (p.Val572Ala) c.1692T>C (n.1692T>C) c.1583T>C (p.Val528Ala) c.1688T>C (p.Val563Ala) c.1679T>C (p.Val560Ala) c.1649T>C (p.Val550Ala) | gnomAD v4 |
| 5 | g.141574135A>T | CA361521867 | DIAPH1 | c.1715T>A (p.Val572Glu) c.1692T>A (n.1692T>A) c.1583T>A (p.Val528Glu) c.1688T>A (p.Val563Glu) c.1679T>A (p.Val560Glu) c.1649T>A (p.Val550Glu) | |
| 5 | g.141574136C>A | CA128437431 | DIAPH1 | c.1714G>T (p.Val572Leu) c.1691G>T (n.1691G>T) c.1582G>T (p.Val528Leu) c.1687G>T (p.Val563Leu) c.1678G>T (p.Val560Leu) c.1648G>T (p.Val550Leu) | dbSNP |
| 5 | g.141574136C= | CA1587248560 | DIAPH1 | c.1714G= (p.Val572=) c.1691G= (n.1691G=) c.1582G= (p.Val528=) c.1687G= (p.Val563=) c.1678G= (p.Val560=) c.1648G= (p.Val550=) | |
| 5 | g.141574136C>G | CA361521876 | DIAPH1 | c.1714G>C (p.Val572Leu) c.1691G>C (n.1691G>C) c.1582G>C (p.Val528Leu) c.1687G>C (p.Val563Leu) c.1678G>C (p.Val560Leu) c.1648G>C (p.Val550Leu) | gnomAD v4 |
| 5 | g.141574136C>T | CA361521880 | DIAPH1 | c.1714G>A (p.Val572Ile) c.1691G>A (n.1691G>A) c.1582G>A (p.Val528Ile) c.1687G>A (p.Val563Ile) c.1678G>A (p.Val560Ile) c.1648G>A (p.Val550Ile) | |
| 5 | g.141574137A= | CA1587248571 | DIAPH1 | c.1713T= (p.Thr571=) c.1690T= (n.1690T=) c.1581T= (p.Thr527=) c.1686T= (p.Thr562=) c.1677T= (p.Thr559=) c.1647T= (p.Thr549=) | |
| 5 | g.141574137A>C | CA446892411 | DIAPH1 | c.1713T>G (p.Thr571=) c.1690T>G (n.1690T>G) c.1581T>G (p.Thr527=) c.1686T>G (p.Thr562=) c.1677T>G (p.Thr559=) c.1647T>G (p.Thr549=) | |
| 5 | g.141574137A>G | CA3479226 | DIAPH1 | c.1713T>C (p.Thr571=) c.1690T>C (n.1690T>C) c.1581T>C (p.Thr527=) c.1686T>C (p.Thr562=) c.1677T>C (p.Thr559=) c.1647T>C (p.Thr549=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.141574137A>T | CA446892410 | DIAPH1 | c.1713T>A (p.Thr571=) c.1690T>A (n.1690T>A) c.1581T>A (p.Thr527=) c.1686T>A (p.Thr562=) c.1677T>A (p.Thr559=) c.1647T>A (p.Thr549=) | |
| 5 | g.141574138G>A | CA361521887 | DIAPH1 | c.1712C>T (p.Thr571Ile) c.1689C>T (n.1689C>T) c.1580C>T (p.Thr527Ile) c.1685C>T (p.Thr562Ile) c.1676C>T (p.Thr559Ile) c.1646C>T (p.Thr549Ile) | dbSNP gnomAD v4 |
| 5 | g.141574138G>C | CA361521898 | DIAPH1 | c.1712C>G (p.Thr571Ser) c.1689C>G (n.1689C>G) c.1580C>G (p.Thr527Ser) c.1685C>G (p.Thr562Ser) c.1676C>G (p.Thr559Ser) c.1646C>G (p.Thr549Ser) | ClinVar dbSNP |
| 5 | g.141574138G= | CA1587248577 | DIAPH1 | c.1712C= (p.Thr571=) c.1689C= (n.1689C=) c.1580C= (p.Thr527=) c.1685C= (p.Thr562=) c.1676C= (p.Thr559=) c.1646C= (p.Thr549=) | |
| 5 | g.141574138G>T | CA361521893 | DIAPH1 | c.1712C>A (p.Thr571Asn) c.1689C>A (n.1689C>A) c.1580C>A (p.Thr527Asn) c.1685C>A (p.Thr562Asn) c.1676C>A (p.Thr559Asn) c.1646C>A (p.Thr549Asn) | |
| 5 | g.141574138_141574139insA | CA2675691894 | DIAPH1 | c.1711_1712insT (p.Thr571IlefsTer8) c.1688_1689insT (n.1688_1689insT) c.1579_1580insT (p.Thr527IlefsTer8) c.1684_1685insT (p.Thr562IlefsTer8) c.1675_1676insT (p.Thr559IlefsTer8) c.1645_1646insT (p.Thr549IlefsTer8) | gnomAD v4 |
| 5 | g.141574139T>A | CA361521905 | DIAPH1 | c.1711A>T (p.Thr571Ser) c.1688A>T (n.1688A>T) c.1579A>T (p.Thr527Ser) c.1684A>T (p.Thr562Ser) c.1675A>T (p.Thr559Ser) c.1645A>T (p.Thr549Ser) | |
| 5 | g.141574139T>C | CA3479227 | DIAPH1 | c.1711A>G (p.Thr571Ala) c.1688A>G (n.1688A>G) c.1579A>G (p.Thr527Ala) c.1684A>G (p.Thr562Ala) c.1675A>G (p.Thr559Ala) c.1645A>G (p.Thr549Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.141574139T>G | CA361521911 | DIAPH1 | c.1711A>C (p.Thr571Pro) c.1688A>C (n.1688A>C) c.1579A>C (p.Thr527Pro) c.1684A>C (p.Thr562Pro) c.1675A>C (p.Thr559Pro) c.1645A>C (p.Thr549Pro) | gnomAD v4 |
| 5 | g.141574139T= | CA1587248580 | DIAPH1 | c.1711A= (p.Thr571=) c.1688A= (n.1688A=) c.1579A= (p.Thr527=) c.1684A= (p.Thr562=) c.1675A= (p.Thr559=) c.1645A= (p.Thr549=) | |
| 5 | g.141574140A>C | CA361521913 | DIAPH1 | c.1710T>G (p.Ile570Met) c.1687T>G (n.1687T>G) c.1578T>G (p.Ile526Met) c.1683T>G (p.Ile561Met) c.1674T>G (p.Ile558Met) c.1644T>G (p.Ile548Met) | |
| 5 | g.141574140A>G | CA446892413 | DIAPH1 | c.1710T>C (p.Ile570=) c.1687T>C (n.1687T>C) c.1578T>C (p.Ile526=) c.1683T>C (p.Ile561=) c.1674T>C (p.Ile558=) c.1644T>C (p.Ile548=) | |
| 5 | g.141574140A>T | CA446892412 | DIAPH1 | c.1710T>A (p.Ile570=) c.1687T>A (n.1687T>A) c.1578T>A (p.Ile526=) c.1683T>A (p.Ile561=) c.1674T>A (p.Ile558=) c.1644T>A (p.Ile548=) | |
| 5 | g.141574141A= | CA1587248585 | DIAPH1 | c.1709T= (p.Ile570=) c.1686T= (n.1686T=) c.1577T= (p.Ile526=) c.1682T= (p.Ile561=) c.1673T= (p.Ile558=) c.1643T= (p.Ile548=) | |
| 5 | g.141574141A>C | CA3479228 | DIAPH1 | c.1709T>G (p.Ile570Ser) c.1686T>G (n.1686T>G) c.1577T>G (p.Ile526Ser) c.1682T>G (p.Ile561Ser) c.1673T>G (p.Ile558Ser) c.1643T>G (p.Ile548Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.141574141A>G | CA361521921 | DIAPH1 | c.1709T>C (p.Ile570Thr) c.1686T>C (n.1686T>C) c.1577T>C (p.Ile526Thr) c.1682T>C (p.Ile561Thr) c.1673T>C (p.Ile558Thr) c.1643T>C (p.Ile548Thr) | |
| 5 | g.141574141A>T | CA361521922 | DIAPH1 | c.1709T>A (p.Ile570Asn) c.1686T>A (n.1686T>A) c.1577T>A (p.Ile526Asn) c.1682T>A (p.Ile561Asn) c.1673T>A (p.Ile558Asn) c.1643T>A (p.Ile548Asn) | |
| 5 | g.141574142T>A | CA361521923 | DIAPH1 | c.1708A>T (p.Ile570Phe) c.1685A>T (n.1685A>T) c.1576A>T (p.Ile526Phe) c.1681A>T (p.Ile561Phe) c.1672A>T (p.Ile558Phe) c.1642A>T (p.Ile548Phe) | gnomAD v4 |
| 5 | g.141574142T>C | CA10603967 | DIAPH1 | c.1708A>G (p.Ile570Val) c.1685A>G (n.1685A>G) c.1576A>G (p.Ile526Val) c.1681A>G (p.Ile561Val) c.1672A>G (p.Ile558Val) c.1642A>G (p.Ile548Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.141574142T>G | CA361521927 | DIAPH1 | c.1708A>C (p.Ile570Leu) c.1685A>C (n.1685A>C) c.1576A>C (p.Ile526Leu) c.1681A>C (p.Ile561Leu) c.1672A>C (p.Ile558Leu) c.1642A>C (p.Ile548Leu) | |
| 5 | g.141574142T= | CA1587248594 | DIAPH1 | c.1708A= (p.Ile570=) c.1685A= (n.1685A=) c.1576A= (p.Ile526=) c.1681A= (p.Ile561=) c.1672A= (p.Ile558=) c.1642A= (p.Ile548=) | |
| 5 | g.141574143A>C | CA446892414 | DIAPH1 | c.1707T>G (p.Ala569=) c.1684T>G (n.1684T>G) c.1575T>G (p.Ala525=) c.1680T>G (p.Ala560=) c.1671T>G (p.Ala557=) c.1641T>G (p.Ala547=) | |
| 5 | g.141574143A>G | CA446892415 | DIAPH1 | c.1707T>C (p.Ala569=) c.1684T>C (n.1684T>C) c.1575T>C (p.Ala525=) c.1680T>C (p.Ala560=) c.1671T>C (p.Ala557=) c.1641T>C (p.Ala547=) | gnomAD v4 |
| 5 | g.141574143A>T | CA446892416 | DIAPH1 | c.1707T>A (p.Ala569=) c.1684T>A (n.1684T>A) c.1575T>A (p.Ala525=) c.1680T>A (p.Ala560=) c.1671T>A (p.Ala557=) c.1641T>A (p.Ala547=) | |
| 5 | g.141574144G>A | CA361521937 | DIAPH1 | c.1706C>T (p.Ala569Val) c.1683C>T (n.1683C>T) c.1574C>T (p.Ala525Val) c.1679C>T (p.Ala560Val) c.1670C>T (p.Ala557Val) c.1640C>T (p.Ala547Val) | |
| 5 | g.141574144G>C | CA361521935 | DIAPH1 | c.1706C>G (p.Ala569Gly) c.1683C>G (n.1683C>G) c.1574C>G (p.Ala525Gly) c.1679C>G (p.Ala560Gly) c.1670C>G (p.Ala557Gly) c.1640C>G (p.Ala547Gly) | |
| 5 | g.141574144G>T | CA361521934 | DIAPH1 | c.1706C>A (p.Ala569Asp) c.1683C>A (n.1683C>A) c.1574C>A (p.Ala525Asp) c.1679C>A (p.Ala560Asp) c.1670C>A (p.Ala557Asp) c.1640C>A (p.Ala547Asp) | gnomAD v4 |
| 5 | g.141574145C>A | CA361521957 | DIAPH1 | c.1705G>T (p.Ala569Ser) c.1682G>T (n.1682G>T) c.1573G>T (p.Ala525Ser) c.1678G>T (p.Ala560Ser) c.1669G>T (p.Ala557Ser) c.1639G>T (p.Ala547Ser) | |
| 5 | g.141574145C= | CA1587248597 | DIAPH1 | c.1705G= (p.Ala569=) c.1682G= (n.1682G=) c.1573G= (p.Ala525=) c.1678G= (p.Ala560=) c.1669G= (p.Ala557=) c.1639G= (p.Ala547=) | |
| 5 | g.141574145C>G | CA361521941 | DIAPH1 | c.1705G>C (p.Ala569Pro) c.1682G>C (n.1682G>C) c.1573G>C (p.Ala525Pro) c.1678G>C (p.Ala560Pro) c.1669G>C (p.Ala557Pro) c.1639G>C (p.Ala547Pro) | dbSNP |
| 5 | g.141574145C>T | CA361521945 | DIAPH1 | c.1705G>A (p.Ala569Thr) c.1682G>A (n.1682G>A) c.1573G>A (p.Ala525Thr) c.1678G>A (p.Ala560Thr) c.1669G>A (p.Ala557Thr) c.1639G>A (p.Ala547Thr) | |
| 5 | g.141574146T>A | CA446892417 | DIAPH1 | c.1704A>T (p.Ala568=) c.1681A>T (n.1681A>T) c.1572A>T (p.Ala524=) c.1677A>T (p.Ala559=) c.1668A>T (p.Ala556=) c.1638A>T (p.Ala546=) | |
| 5 | g.141574146T>C | CA446892418 | DIAPH1 | c.1704A>G (p.Ala568=) c.1681A>G (n.1681A>G) c.1572A>G (p.Ala524=) c.1677A>G (p.Ala559=) c.1668A>G (p.Ala556=) c.1638A>G (p.Ala546=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.141574146T>G | CA446892419 | DIAPH1 | c.1704A>C (p.Ala568=) c.1681A>C (n.1681A>C) c.1572A>C (p.Ala524=) c.1677A>C (p.Ala559=) c.1668A>C (p.Ala556=) c.1638A>C (p.Ala546=) | |
| 5 | g.141574146T= | CA1587248599 | DIAPH1 | c.1704A= (p.Ala568=) c.1681A= (n.1681A=) c.1572A= (p.Ala524=) c.1677A= (p.Ala559=) c.1668A= (p.Ala556=) c.1638A= (p.Ala546=) | |
| 5 | g.141574147G>A | CA361521963 | DIAPH1 | c.1703C>T (p.Ala568Val) c.1680C>T (n.1680C>T) c.1571C>T (p.Ala524Val) c.1676C>T (p.Ala559Val) c.1667C>T (p.Ala556Val) c.1637C>T (p.Ala546Val) | |
| 5 | g.141574147G>C | CA361521966 | DIAPH1 | c.1703C>G (p.Ala568Gly) c.1680C>G (n.1680C>G) c.1571C>G (p.Ala524Gly) c.1676C>G (p.Ala559Gly) c.1667C>G (p.Ala556Gly) c.1637C>G (p.Ala546Gly) | |
| 5 | g.141574147G>T | CA361521969 | DIAPH1 | c.1703C>A (p.Ala568Glu) c.1680C>A (n.1680C>A) c.1571C>A (p.Ala524Glu) c.1676C>A (p.Ala559Glu) c.1667C>A (p.Ala556Glu) c.1637C>A (p.Ala546Glu) | |
| 5 | g.141574148C>A | CA361521976 | DIAPH1 | c.1702G>T (p.Ala568Ser) c.1679G>T (n.1679G>T) c.1570G>T (p.Ala524Ser) c.1675G>T (p.Ala559Ser) c.1666G>T (p.Ala556Ser) c.1636G>T (p.Ala546Ser) | |
| 5 | g.141574148C= | CA1587248606 | DIAPH1 | c.1702G= (p.Ala568=) c.1679G= (n.1679G=) c.1570G= (p.Ala524=) c.1675G= (p.Ala559=) c.1666G= (p.Ala556=) c.1636G= (p.Ala546=) | |
| 5 | g.141574148C>G | CA361521979 | DIAPH1 | c.1702G>C (p.Ala568Pro) c.1679G>C (n.1679G>C) c.1570G>C (p.Ala524Pro) c.1675G>C (p.Ala559Pro) c.1666G>C (p.Ala556Pro) c.1636G>C (p.Ala546Pro) | |
| 5 | g.141574148C>T | CA361521982 | DIAPH1 | c.1702G>A (p.Ala568Thr) c.1679G>A (n.1679G>A) c.1570G>A (p.Ala524Thr) c.1675G>A (p.Ala559Thr) c.1666G>A (p.Ala556Thr) c.1636G>A (p.Ala546Thr) | dbSNP |
| 5 | g.141574149C>A | CA446892420 | DIAPH1 | c.1701G>T (p.Ala567=) c.1678G>T (n.1678G>T) c.1569G>T (p.Ala523=) c.1674G>T (p.Ala558=) c.1665G>T (p.Ala555=) c.1635G>T (p.Ala545=) | |
| 5 | g.141574149C= | CA1587248609 | DIAPH1 | c.1701G= (p.Ala567=) c.1678G= (n.1678G=) c.1569G= (p.Ala523=) c.1674G= (p.Ala558=) c.1665G= (p.Ala555=) c.1635G= (p.Ala545=) | |
| 5 | g.141574149C>G | CA446892421 | DIAPH1 | c.1701G>C (p.Ala567=) c.1678G>C (n.1678G>C) c.1569G>C (p.Ala523=) c.1674G>C (p.Ala558=) c.1665G>C (p.Ala555=) c.1635G>C (p.Ala545=) | |
| 5 | g.141574149C>T | CA3479229 | DIAPH1 | c.1701G>A (p.Ala567=) c.1678G>A (n.1678G>A) c.1569G>A (p.Ala523=) c.1674G>A (p.Ala558=) c.1665G>A (p.Ala555=) c.1635G>A (p.Ala545=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.141574150G>A | CA3479230 | DIAPH1 | c.1700C>T (p.Ala567Val) c.1677C>T (n.1677C>T) c.1568C>T (p.Ala523Val) c.1673C>T (p.Ala558Val) c.1664C>T (p.Ala555Val) c.1634C>T (p.Ala545Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.141574150G>C | CA361521992 | DIAPH1 | c.1700C>G (p.Ala567Gly) c.1677C>G (n.1677C>G) c.1568C>G (p.Ala523Gly) c.1673C>G (p.Ala558Gly) c.1664C>G (p.Ala555Gly) c.1634C>G (p.Ala545Gly) | |
| 5 | g.141574150G= | CA1587248612 | DIAPH1 | c.1700C= (p.Ala567=) c.1677C= (n.1677C=) c.1568C= (p.Ala523=) c.1673C= (p.Ala558=) c.1664C= (p.Ala555=) c.1634C= (p.Ala545=) | |
| 5 | g.141574150G>T | CA361521995 | DIAPH1 | c.1700C>A (p.Ala567Glu) c.1677C>A (n.1677C>A) c.1568C>A (p.Ala523Glu) c.1673C>A (p.Ala558Glu) c.1664C>A (p.Ala555Glu) c.1634C>A (p.Ala545Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.141574151_141574153del | CA2675691911 | DIAPH1 | c.1698_1700del (p.Ala567del) c.1675_1677del (n.1675_1677del) c.1566_1568del (p.Ala523del) c.1671_1673del (p.Ala558del) c.1662_1664del (p.Ala555del) c.1632_1634del (p.Ala545del) | gnomAD v4 |
| 5 | g.141574151C>A | CA361521998 | DIAPH1 | c.1699G>T (p.Ala567Ser) c.1676G>T (n.1676G>T) c.1567G>T (p.Ala523Ser) c.1672G>T (p.Ala558Ser) c.1663G>T (p.Ala555Ser) c.1633G>T (p.Ala545Ser) | |
| 5 | g.141574151C>G | CA361522002 | DIAPH1 | c.1699G>C (p.Ala567Pro) c.1676G>C (n.1676G>C) c.1567G>C (p.Ala523Pro) c.1672G>C (p.Ala558Pro) c.1663G>C (p.Ala555Pro) c.1633G>C (p.Ala545Pro) | |
| 5 | g.141574151C>T | CA361522003 | DIAPH1 | c.1699G>A (p.Ala567Thr) c.1676G>A (n.1676G>A) c.1567G>A (p.Ala523Thr) c.1672G>A (p.Ala558Thr) c.1663G>A (p.Ala555Thr) c.1633G>A (p.Ala545Thr) | |
| 5 | g.141574152A>C | CA446892423 | DIAPH1 | c.1698T>G (p.Ser566=) c.1675T>G (n.1675T>G) c.1566T>G (p.Ser522=) c.1671T>G (p.Ser557=) c.1662T>G (p.Ser554=) c.1632T>G (p.Ser544=) | |
| 5 | g.141574152A>G | CA446892424 | DIAPH1 | c.1698T>C (p.Ser566=) c.1675T>C (n.1675T>C) c.1566T>C (p.Ser522=) c.1671T>C (p.Ser557=) c.1662T>C (p.Ser554=) c.1632T>C (p.Ser544=) | |
| 5 | g.141574152A>T | CA446892425 | DIAPH1 | c.1698T>A (p.Ser566=) c.1675T>A (n.1675T>A) c.1566T>A (p.Ser522=) c.1671T>A (p.Ser557=) c.1662T>A (p.Ser554=) c.1632T>A (p.Ser544=) | |
| 5 | g.141574153G>A | CA3479231 | DIAPH1 | c.1697C>T (p.Ser566Phe) c.1674C>T (n.1674C>T) c.1565C>T (p.Ser522Phe) c.1670C>T (p.Ser557Phe) c.1661C>T (p.Ser554Phe) c.1631C>T (p.Ser544Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.141574153G>C | CA361522016 | DIAPH1 | c.1697C>G (p.Ser566Cys) c.1674C>G (n.1674C>G) c.1565C>G (p.Ser522Cys) c.1670C>G (p.Ser557Cys) c.1661C>G (p.Ser554Cys) c.1631C>G (p.Ser544Cys) | |
| 5 | g.141574153G= | CA1587248619 | DIAPH1 | c.1697C= (p.Ser566=) c.1674C= (n.1674C=) c.1565C= (p.Ser522=) c.1670C= (p.Ser557=) c.1661C= (p.Ser554=) c.1631C= (p.Ser544=) | |
| 5 | g.141574153G>T | CA361522012 | DIAPH1 | c.1697C>A (p.Ser566Tyr) c.1674C>A (n.1674C>A) c.1565C>A (p.Ser522Tyr) c.1670C>A (p.Ser557Tyr) c.1661C>A (p.Ser554Tyr) c.1631C>A (p.Ser544Tyr) | |
| 5 | g.141574154A>C | CA361522023 | DIAPH1 | c.1696T>G (p.Ser566Ala) c.1673T>G (n.1673T>G) c.1564T>G (p.Ser522Ala) c.1669T>G (p.Ser557Ala) c.1660T>G (p.Ser554Ala) c.1630T>G (p.Ser544Ala) | |
| 5 | g.141574154A>G | CA361522027 | DIAPH1 | c.1696T>C (p.Ser566Pro) c.1673T>C (n.1673T>C) c.1564T>C (p.Ser522Pro) c.1669T>C (p.Ser557Pro) c.1660T>C (p.Ser554Pro) c.1630T>C (p.Ser544Pro) | |
| 5 | g.141574154A>T | CA361522030 | DIAPH1 | c.1696T>A (p.Ser566Thr) c.1673T>A (n.1673T>A) c.1564T>A (p.Ser522Thr) c.1669T>A (p.Ser557Thr) c.1660T>A (p.Ser554Thr) c.1630T>A (p.Ser544Thr) | |
| 5 | g.141574155G>A | CA446892426 | DIAPH1 | c.1695C>T (p.Leu565=) c.1672C>T (n.1672C>T) c.1563C>T (p.Leu521=) c.1668C>T (p.Leu556=) c.1659C>T (p.Leu553=) c.1629C>T (p.Leu543=) | gnomAD v4 |
| 5 | g.141574155G>C | CA446892428 | DIAPH1 | c.1695C>G (p.Leu565=) c.1672C>G (n.1672C>G) c.1563C>G (p.Leu521=) c.1668C>G (p.Leu556=) c.1659C>G (p.Leu553=) c.1629C>G (p.Leu543=) | dbSNP gnomAD v2 |
| 5 | g.141574155G= | CA1587248626 | DIAPH1 | c.1695C= (p.Leu565=) c.1672C= (n.1672C=) c.1563C= (p.Leu521=) c.1668C= (p.Leu556=) c.1659C= (p.Leu553=) c.1629C= (p.Leu543=) | |
| 5 | g.141574155G>T | CA446892427 | DIAPH1 | c.1695C>A (p.Leu565=) c.1672C>A (n.1672C>A) c.1563C>A (p.Leu521=) c.1668C>A (p.Leu556=) c.1659C>A (p.Leu553=) c.1629C>A (p.Leu543=) | |
| 5 | g.141574156A>C | CA361522035 | DIAPH1 | c.1694T>G (p.Leu565Arg) c.1671T>G (n.1671T>G) c.1562T>G (p.Leu521Arg) c.1667T>G (p.Leu556Arg) c.1658T>G (p.Leu553Arg) c.1628T>G (p.Leu543Arg) | |
| 5 | g.141574156A>G | CA361522039 | DIAPH1 | c.1694T>C (p.Leu565Pro) c.1671T>C (n.1671T>C) c.1562T>C (p.Leu521Pro) c.1667T>C (p.Leu556Pro) c.1658T>C (p.Leu553Pro) c.1628T>C (p.Leu543Pro) | |
| 5 | g.141574156A>T | CA361522044 | DIAPH1 | c.1694T>A (p.Leu565His) c.1671T>A (n.1671T>A) c.1562T>A (p.Leu521His) c.1667T>A (p.Leu556His) c.1658T>A (p.Leu553His) c.1628T>A (p.Leu543His) | |
| 5 | g.141574157G>A | CA361522049 | DIAPH1 | c.1693C>T (p.Leu565Phe) c.1670C>T (n.1670C>T) c.1561C>T (p.Leu521Phe) c.1666C>T (p.Leu556Phe) c.1657C>T (p.Leu553Phe) c.1627C>T (p.Leu543Phe) | dbSNP |
| 5 | g.141574157G>C | CA361522055 | DIAPH1 | c.1693C>G (p.Leu565Val) c.1670C>G (n.1670C>G) c.1561C>G (p.Leu521Val) c.1666C>G (p.Leu556Val) c.1657C>G (p.Leu553Val) c.1627C>G (p.Leu543Val) | |
| 5 | g.141574157G= | CA1587248632 | DIAPH1 | c.1693C= (p.Leu565=) c.1670C= (n.1670C=) c.1561C= (p.Leu521=) c.1666C= (p.Leu556=) c.1657C= (p.Leu553=) c.1627C= (p.Leu543=) | |
| 5 | g.141574157G>T | CA361522056 | DIAPH1 | c.1693C>A (p.Leu565Ile) c.1670C>A (n.1670C>A) c.1561C>A (p.Leu521Ile) c.1666C>A (p.Leu556Ile) c.1657C>A (p.Leu553Ile) c.1627C>A (p.Leu543Ile) | |
| 5 | g.141574158G>A | CA446892429 | DIAPH1 | c.1692C>T (p.Ser564=) c.1669C>T (n.1669C>T) c.1560C>T (p.Ser520=) c.1665C>T (p.Ser555=) c.1656C>T (p.Ser552=) c.1626C>T (p.Ser542=) | |
| 5 | g.141574158G>C | CA446892430 | DIAPH1 | c.1692C>G (p.Ser564=) c.1669C>G (n.1669C>G) c.1560C>G (p.Ser520=) c.1665C>G (p.Ser555=) c.1656C>G (p.Ser552=) c.1626C>G (p.Ser542=) | |
| 5 | g.141574158G>T | CA446892431 | DIAPH1 | c.1692C>A (p.Ser564=) c.1669C>A (n.1669C>A) c.1560C>A (p.Ser520=) c.1665C>A (p.Ser555=) c.1656C>A (p.Ser552=) c.1626C>A (p.Ser542=) | |
| 5 | g.141574159G>A | CA361522068 | DIAPH1 | c.1691C>T (p.Ser564Phe) c.1668C>T (n.1668C>T) c.1559C>T (p.Ser520Phe) c.1664C>T (p.Ser555Phe) c.1655C>T (p.Ser552Phe) c.1625C>T (p.Ser542Phe) | |
| 5 | g.141574159G>C | CA361522073 | DIAPH1 | c.1691C>G (p.Ser564Cys) c.1668C>G (n.1668C>G) c.1559C>G (p.Ser520Cys) c.1664C>G (p.Ser555Cys) c.1655C>G (p.Ser552Cys) c.1625C>G (p.Ser542Cys) | |
| 5 | g.141574159G>T | CA361522075 | DIAPH1 | c.1691C>A (p.Ser564Tyr) c.1668C>A (n.1668C>A) c.1559C>A (p.Ser520Tyr) c.1664C>A (p.Ser555Tyr) c.1655C>A (p.Ser552Tyr) c.1625C>A (p.Ser542Tyr) | |
| 5 | g.141574160A>C | CA361522091 | DIAPH1 | c.1690T>G (p.Ser564Ala) c.1667T>G (n.1667T>G) c.1558T>G (p.Ser520Ala) c.1663T>G (p.Ser555Ala) c.1654T>G (p.Ser552Ala) c.1624T>G (p.Ser542Ala) | |
| 5 | g.141574160A>G | CA361522079 | DIAPH1 | c.1690T>C (p.Ser564Pro) c.1667T>C (n.1667T>C) c.1558T>C (p.Ser520Pro) c.1663T>C (p.Ser555Pro) c.1654T>C (p.Ser552Pro) c.1624T>C (p.Ser542Pro) | |
| 5 | g.141574160A>T | CA361522083 | DIAPH1 | c.1690T>A (p.Ser564Thr) c.1667T>A (n.1667T>A) c.1558T>A (p.Ser520Thr) c.1663T>A (p.Ser555Thr) c.1654T>A (p.Ser552Thr) c.1624T>A (p.Ser542Thr) | |
| 5 | g.141574161A= | CA1587248642 | DIAPH1 | c.1689T= (p.Ala563=) c.1666T= (n.1666T=) c.1557T= (p.Ala519=) c.1662T= (p.Ala554=) c.1653T= (p.Ala551=) c.1623T= (p.Ala541=) | |
| 5 | g.141574161A>C | CA446892432 | DIAPH1 | c.1689T>G (p.Ala563=) c.1666T>G (n.1666T>G) c.1557T>G (p.Ala519=) c.1662T>G (p.Ala554=) c.1653T>G (p.Ala551=) c.1623T>G (p.Ala541=) | |
| 5 | g.141574161A>G | CA446892433 | DIAPH1 | c.1689T>C (p.Ala563=) c.1666T>C (n.1666T>C) c.1557T>C (p.Ala519=) c.1662T>C (p.Ala554=) c.1653T>C (p.Ala551=) c.1623T>C (p.Ala541=) | gnomAD v4 |
| 5 | g.141574161A>T | CA3479232 | DIAPH1 | c.1689T>A (p.Ala563=) c.1666T>A (n.1666T>A) c.1557T>A (p.Ala519=) c.1662T>A (p.Ala554=) c.1653T>A (p.Ala551=) c.1623T>A (p.Ala541=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.141574162G>A | CA361522106 | DIAPH1 | c.1688C>T (p.Ala563Val) c.1665C>T (n.1665C>T) c.1556C>T (p.Ala519Val) c.1661C>T (p.Ala554Val) c.1652C>T (p.Ala551Val) c.1622C>T (p.Ala541Val) | |
| 5 | g.141574162G>C | CA361522108 | DIAPH1 | c.1688C>G (p.Ala563Gly) c.1665C>G (n.1665C>G) c.1556C>G (p.Ala519Gly) c.1661C>G (p.Ala554Gly) c.1652C>G (p.Ala551Gly) c.1622C>G (p.Ala541Gly) | |
| 5 | g.141574162G>T | CA361522109 | DIAPH1 | c.1688C>A (p.Ala563Asp) c.1665C>A (n.1665C>A) c.1556C>A (p.Ala519Asp) c.1661C>A (p.Ala554Asp) c.1652C>A (p.Ala551Asp) c.1622C>A (p.Ala541Asp) | dbSNP |
| 5 | g.141574163C>A | CA361522111 | DIAPH1 | c.1687G>T (p.Ala563Ser) c.1664G>T (n.1664G>T) c.1555G>T (p.Ala519Ser) c.1660G>T (p.Ala554Ser) c.1651G>T (p.Ala551Ser) c.1621G>T (p.Ala541Ser) | |
| 5 | g.141574163C= | CA1587248645 | DIAPH1 | c.1687G= (p.Ala563=) c.1664G= (n.1664G=) c.1555G= (p.Ala519=) c.1660G= (p.Ala554=) c.1651G= (p.Ala551=) c.1621G= (p.Ala541=) | |
| 5 | g.141574163C>G | CA361522112 | DIAPH1 | c.1687G>C (p.Ala563Pro) c.1664G>C (n.1664G>C) c.1555G>C (p.Ala519Pro) c.1660G>C (p.Ala554Pro) c.1651G>C (p.Ala551Pro) c.1621G>C (p.Ala541Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.141574163C>T | CA361522113 | DIAPH1 | c.1687G>A (p.Ala563Thr) c.1664G>A (n.1664G>A) c.1555G>A (p.Ala519Thr) c.1660G>A (p.Ala554Thr) c.1651G>A (p.Ala551Thr) c.1621G>A (p.Ala541Thr) | |
| 5 | g.141574164C>A | CA361522115 | DIAPH1 | c.1686G>T (p.Met562Ile) c.1663G>T (n.1663G>T) c.1554G>T (p.Met518Ile) c.1659G>T (p.Met553Ile) c.1650G>T (p.Met550Ile) c.1620G>T (p.Met540Ile) | |
| 5 | g.141574164C= | CA1587248650 | DIAPH1 | c.1686G= (p.Met562=) c.1663G= (n.1663G=) c.1554G= (p.Met518=) c.1659G= (p.Met553=) c.1650G= (p.Met550=) c.1620G= (p.Met540=) | |
| 5 | g.141574164C>G | CA361522121 | DIAPH1 | c.1686G>C (p.Met562Ile) c.1663G>C (n.1663G>C) c.1554G>C (p.Met518Ile) c.1659G>C (p.Met553Ile) c.1650G>C (p.Met550Ile) c.1620G>C (p.Met540Ile) | |
| 5 | g.141574164C>T | CA3479233 | DIAPH1 | c.1686G>A (p.Met562Ile) c.1663G>A (n.1663G>A) c.1554G>A (p.Met518Ile) c.1659G>A (p.Met553Ile) c.1650G>A (p.Met550Ile) c.1620G>A (p.Met540Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.141574165A= | CA1587248654 | DIAPH1 | c.1685T= (p.Met562=) c.1662T= (n.1662T=) c.1553T= (p.Met518=) c.1658T= (p.Met553=) c.1649T= (p.Met550=) c.1619T= (p.Met540=) | |
| 5 | g.141574165A>C | CA361522124 | DIAPH1 | c.1685T>G (p.Met562Arg) c.1662T>G (n.1662T>G) c.1553T>G (p.Met518Arg) c.1658T>G (p.Met553Arg) c.1649T>G (p.Met550Arg) c.1619T>G (p.Met540Arg) | |
| 5 | g.141574165A>G | CA361522125 | DIAPH1 | c.1685T>C (p.Met562Thr) c.1662T>C (n.1662T>C) c.1553T>C (p.Met518Thr) c.1658T>C (p.Met553Thr) c.1649T>C (p.Met550Thr) c.1619T>C (p.Met540Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.141574165A>T | CA361522126 | DIAPH1 | c.1685T>A (p.Met562Lys) c.1662T>A (n.1662T>A) c.1553T>A (p.Met518Lys) c.1658T>A (p.Met553Lys) c.1649T>A (p.Met550Lys) c.1619T>A (p.Met540Lys) | |
| 5 | g.141574166T>A | CA361522135 | DIAPH1 | c.1684A>T (p.Met562Leu) c.1661A>T (n.1661A>T) c.1552A>T (p.Met518Leu) c.1657A>T (p.Met553Leu) c.1648A>T (p.Met550Leu) c.1618A>T (p.Met540Leu) | |
| 5 | g.141574166T>C | CA361522133 | DIAPH1 | c.1684A>G (p.Met562Val) c.1661A>G (n.1661A>G) c.1552A>G (p.Met518Val) c.1657A>G (p.Met553Val) c.1648A>G (p.Met550Val) c.1618A>G (p.Met540Val) | dbSNP |
| 5 | g.141574166T>G | CA361522130 | DIAPH1 | c.1684A>C (p.Met562Leu) c.1661A>C (n.1661A>C) c.1552A>C (p.Met518Leu) c.1657A>C (p.Met553Leu) c.1648A>C (p.Met550Leu) c.1618A>C (p.Met540Leu) | |
| 5 | g.141574166T= | CA1587248655 | DIAPH1 | c.1684A= (p.Met562=) c.1661A= (n.1661A=) c.1552A= (p.Met518=) c.1657A= (p.Met553=) c.1648A= (p.Met550=) c.1618A= (p.Met540=) | |
| 5 | g.141574167T>A | CA361522139 | DIAPH1 | c.1683A>T (p.Glu561Asp) c.1660A>T (n.1660A>T) c.1551A>T (p.Glu517Asp) c.1656A>T (p.Glu552Asp) c.1647A>T (p.Glu549Asp) c.1617A>T (p.Glu539Asp) | |
| 5 | g.141574167T>C | CA128437486 | DIAPH1 | c.1683A>G (p.Glu561=) c.1660A>G (n.1660A>G) c.1551A>G (p.Glu517=) c.1656A>G (p.Glu552=) c.1647A>G (p.Glu549=) c.1617A>G (p.Glu539=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.141574167T>G | CA361522141 | DIAPH1 | c.1683A>C (p.Glu561Asp) c.1660A>C (n.1660A>C) c.1551A>C (p.Glu517Asp) c.1656A>C (p.Glu552Asp) c.1647A>C (p.Glu549Asp) c.1617A>C (p.Glu539Asp) | |
| 5 | g.141574167T= | CA1587248659 | DIAPH1 | c.1683A= (p.Glu561=) c.1660A= (n.1660A=) c.1551A= (p.Glu517=) c.1656A= (p.Glu552=) c.1647A= (p.Glu549=) c.1617A= (p.Glu539=) | |
| 5 | g.141574168T>A | CA361522142 | DIAPH1 | c.1682A>T (p.Glu561Val) c.1659A>T (n.1659A>T) c.1550A>T (p.Glu517Val) c.1655A>T (p.Glu552Val) c.1646A>T (p.Glu549Val) c.1616A>T (p.Glu539Val) | |
| 5 | g.141574168T>C | CA361522145 | DIAPH1 | c.1682A>G (p.Glu561Gly) c.1659A>G (n.1659A>G) c.1550A>G (p.Glu517Gly) c.1655A>G (p.Glu552Gly) c.1646A>G (p.Glu549Gly) c.1616A>G (p.Glu539Gly) | |
| 5 | g.141574168T>G | CA361522148 | DIAPH1 | c.1682A>C (p.Glu561Ala) c.1659A>C (n.1659A>C) c.1550A>C (p.Glu517Ala) c.1655A>C (p.Glu552Ala) c.1646A>C (p.Glu549Ala) c.1616A>C (p.Glu539Ala) | |
| 5 | g.141574169C>A | CA361522151 | DIAPH1 | c.1681G>T (p.Glu561Ter) c.1658G>T (n.1658G>T) c.1549G>T (p.Glu517Ter) c.1654G>T (p.Glu552Ter) c.1645G>T (p.Glu549Ter) c.1615G>T (p.Glu539Ter) | |
| 5 | g.141574169C>G | CA361522153 | DIAPH1 | c.1681G>C (p.Glu561Gln) c.1658G>C (n.1658G>C) c.1549G>C (p.Glu517Gln) c.1654G>C (p.Glu552Gln) c.1645G>C (p.Glu549Gln) c.1615G>C (p.Glu539Gln) | |
| 5 | g.141574169C>T | CA361522154 | DIAPH1 | c.1681G>A (p.Glu561Lys) c.1658G>A (n.1658G>A) c.1549G>A (p.Glu517Lys) c.1654G>A (p.Glu552Lys) c.1645G>A (p.Glu549Lys) c.1615G>A (p.Glu539Lys) | ClinVar dbSNP |
| 5 | g.141574170T>A | CA361522157 | DIAPH1 | c.1680A>T (p.Lys560Asn) c.1657A>T (n.1657A>T) c.1548A>T (p.Lys516Asn) c.1653A>T (p.Lys551Asn) c.1644A>T (p.Lys548Asn) c.1614A>T (p.Lys538Asn) | |
| 5 | g.141574170T>C | CA446892434 | DIAPH1 | c.1680A>G (p.Lys560=) c.1657A>G (n.1657A>G) c.1548A>G (p.Lys516=) c.1653A>G (p.Lys551=) c.1644A>G (p.Lys548=) c.1614A>G (p.Lys538=) | |
| 5 | g.141574170T>G | CA361522160 | DIAPH1 | c.1680A>C (p.Lys560Asn) c.1657A>C (n.1657A>C) c.1548A>C (p.Lys516Asn) c.1653A>C (p.Lys551Asn) c.1644A>C (p.Lys548Asn) c.1614A>C (p.Lys538Asn) | |
| 5 | g.141574171T>A | CA361522170 | DIAPH1 | c.1679A>T (p.Lys560Ile) c.1656A>T (n.1656A>T) c.1547A>T (p.Lys516Ile) c.1652A>T (p.Lys551Ile) c.1643A>T (p.Lys548Ile) c.1613A>T (p.Lys538Ile) | |
| 5 | g.141574171T>C | CA361522173 | DIAPH1 | c.1679A>G (p.Lys560Arg) c.1656A>G (n.1656A>G) c.1547A>G (p.Lys516Arg) c.1652A>G (p.Lys551Arg) c.1643A>G (p.Lys548Arg) c.1613A>G (p.Lys538Arg) | |
| 5 | g.141574171T>G | CA361522181 | DIAPH1 | c.1679A>C (p.Lys560Thr) c.1656A>C (n.1656A>C) c.1547A>C (p.Lys516Thr) c.1652A>C (p.Lys551Thr) c.1643A>C (p.Lys548Thr) c.1613A>C (p.Lys538Thr) | |
| 5 | g.141574172T>A | CA361522193 | DIAPH1 | c.1678A>T (p.Lys560Ter) c.1655A>T (n.1655A>T) c.1546A>T (p.Lys516Ter) c.1651A>T (p.Lys551Ter) c.1642A>T (p.Lys548Ter) c.1612A>T (p.Lys538Ter) | |
| 5 | g.141574172T>C | CA361522196 | DIAPH1 | c.1678A>G (p.Lys560Glu) c.1655A>G (n.1655A>G) c.1546A>G (p.Lys516Glu) c.1651A>G (p.Lys551Glu) c.1642A>G (p.Lys548Glu) c.1612A>G (p.Lys538Glu) | |
| 5 | g.141574172T>G | CA361522187 | DIAPH1 | c.1678A>C (p.Lys560Gln) c.1655A>C (n.1655A>C) c.1546A>C (p.Lys516Gln) c.1651A>C (p.Lys551Gln) c.1642A>C (p.Lys548Gln) c.1612A>C (p.Lys538Gln) | |
| 5 | g.141574173C>A | CA128437493 | DIAPH1 | c.1677G>T (p.Lys559Asn) c.1654G>T (n.1654G>T) c.1545G>T (p.Lys515Asn) c.1650G>T (p.Lys550Asn) c.1641G>T (p.Lys547Asn) c.1611G>T (p.Lys537Asn) | ClinVar dbSNP gnomAD v2 |
| 5 | g.141574173C= | CA1587248665 | DIAPH1 | c.1677G= (p.Lys559=) c.1654G= (n.1654G=) c.1545G= (p.Lys515=) c.1650G= (p.Lys550=) c.1641G= (p.Lys547=) c.1611G= (p.Lys537=) | |
| 5 | g.141574173C>G | CA361522197 | DIAPH1 | c.1677G>C (p.Lys559Asn) c.1654G>C (n.1654G>C) c.1545G>C (p.Lys515Asn) c.1650G>C (p.Lys550Asn) c.1641G>C (p.Lys547Asn) c.1611G>C (p.Lys537Asn) | |
| 5 | g.141574173C>T | CA446892435 | DIAPH1 | c.1677G>A (p.Lys559=) c.1654G>A (n.1654G>A) c.1545G>A (p.Lys515=) c.1650G>A (p.Lys550=) c.1641G>A (p.Lys547=) c.1611G>A (p.Lys537=) | |
| 5 | g.141574174T>A | CA361522198 | DIAPH1 | c.1676A>T (p.Lys559Met) c.1653A>T (n.1653A>T) c.1544A>T (p.Lys515Met) c.1649A>T (p.Lys550Met) c.1640A>T (p.Lys547Met) c.1610A>T (p.Lys537Met) | |
| 5 | g.141574174T>C | CA361522201 | DIAPH1 | c.1676A>G (p.Lys559Arg) c.1653A>G (n.1653A>G) c.1544A>G (p.Lys515Arg) c.1649A>G (p.Lys550Arg) c.1640A>G (p.Lys547Arg) c.1610A>G (p.Lys537Arg) | ClinVar gnomAD v4 |
| 5 | g.141574174T>G | CA361522204 | DIAPH1 | c.1676A>C (p.Lys559Thr) c.1653A>C (n.1653A>C) c.1544A>C (p.Lys515Thr) c.1649A>C (p.Lys550Thr) c.1640A>C (p.Lys547Thr) c.1610A>C (p.Lys537Thr) | |
| 5 | g.141574175T>A | CA361522209 | DIAPH1 | c.1675A>T (p.Lys559Ter) c.1652A>T (n.1652A>T) c.1543A>T (p.Lys515Ter) c.1648A>T (p.Lys550Ter) c.1639A>T (p.Lys547Ter) c.1609A>T (p.Lys537Ter) | |
| 5 | g.141574175T>C | CA361522211 | DIAPH1 | c.1675A>G (p.Lys559Glu) c.1652A>G (n.1652A>G) c.1543A>G (p.Lys515Glu) c.1648A>G (p.Lys550Glu) c.1639A>G (p.Lys547Glu) c.1609A>G (p.Lys537Glu) | gnomAD v4 |
| 5 | g.141574175T>G | CA361522215 | DIAPH1 | c.1675A>C (p.Lys559Gln) c.1652A>C (n.1652A>C) c.1543A>C (p.Lys515Gln) c.1648A>C (p.Lys550Gln) c.1639A>C (p.Lys547Gln) c.1609A>C (p.Lys537Gln) | |
| 5 | g.141574176G>A | CA128437495 | DIAPH1 | c.1674C>T (p.Ala558=) c.1651C>T (n.1651C>T) c.1542C>T (p.Ala514=) c.1647C>T (p.Ala549=) c.1638C>T (p.Ala546=) c.1608C>T (p.Ala536=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.141574176G>C | CA446892437 | DIAPH1 | c.1674C>G (p.Ala558=) c.1651C>G (n.1651C>G) c.1542C>G (p.Ala514=) c.1647C>G (p.Ala549=) c.1638C>G (p.Ala546=) c.1608C>G (p.Ala536=) | |
| 5 | g.141574176G= | CA1587248669 | DIAPH1 | c.1674C= (p.Ala558=) c.1651C= (n.1651C=) c.1542C= (p.Ala514=) c.1647C= (p.Ala549=) c.1638C= (p.Ala546=) c.1608C= (p.Ala536=) | |
| 5 | g.141574176G>T | CA446892436 | DIAPH1 | c.1674C>A (p.Ala558=) c.1651C>A (n.1651C>A) c.1542C>A (p.Ala514=) c.1647C>A (p.Ala549=) c.1638C>A (p.Ala546=) c.1608C>A (p.Ala536=) | |
| 5 | g.141574177G>A | CA361522222 | DIAPH1 | c.1673C>T (p.Ala558Val) c.1650C>T (n.1650C>T) c.1541C>T (p.Ala514Val) c.1646C>T (p.Ala549Val) c.1637C>T (p.Ala546Val) c.1607C>T (p.Ala536Val) | gnomAD v4 |
| 5 | g.141574177G>C | CA361522228 | DIAPH1 | c.1673C>G (p.Ala558Gly) c.1650C>G (n.1650C>G) c.1541C>G (p.Ala514Gly) c.1646C>G (p.Ala549Gly) c.1637C>G (p.Ala546Gly) c.1607C>G (p.Ala536Gly) | |
| 5 | g.141574177G>T | CA361522232 | DIAPH1 | c.1673C>A (p.Ala558Asp) c.1650C>A (n.1650C>A) c.1541C>A (p.Ala514Asp) c.1646C>A (p.Ala549Asp) c.1637C>A (p.Ala546Asp) c.1607C>A (p.Ala536Asp) | |
| 5 | g.141574178C>A | CA361522234 | DIAPH1 | c.1672G>T (p.Ala558Ser) c.1649G>T (n.1649G>T) c.1540G>T (p.Ala514Ser) c.1645G>T (p.Ala549Ser) c.1636G>T (p.Ala546Ser) c.1606G>T (p.Ala536Ser) | |
| 5 | g.141574178C>G | CA361522238 | DIAPH1 | c.1672G>C (p.Ala558Pro) c.1649G>C (n.1649G>C) c.1540G>C (p.Ala514Pro) c.1645G>C (p.Ala549Pro) c.1636G>C (p.Ala546Pro) c.1606G>C (p.Ala536Pro) | |
| 5 | g.141574178C>T | CA361522242 | DIAPH1 | c.1672G>A (p.Ala558Thr) c.1649G>A (n.1649G>A) c.1540G>A (p.Ala514Thr) c.1645G>A (p.Ala549Thr) c.1636G>A (p.Ala546Thr) c.1606G>A (p.Ala536Thr) | gnomAD v4 |
| 5 | g.141574179A= | CA1587248671 | DIAPH1 | c.1671T= (p.Asp557=) c.1648T= (n.1648T=) c.1539T= (p.Asp513=) c.1644T= (p.Asp548=) c.1635T= (p.Asp545=) c.1605T= (p.Asp535=) | |
| 5 | g.141574179A>C | CA361522249 | DIAPH1 | c.1671T>G (p.Asp557Glu) c.1648T>G (n.1648T>G) c.1539T>G (p.Asp513Glu) c.1644T>G (p.Asp548Glu) c.1635T>G (p.Asp545Glu) c.1605T>G (p.Asp535Glu) | |
| 5 | g.141574179A>G | CA3479234 | DIAPH1 | c.1671T>C (p.Asp557=) c.1648T>C (n.1648T>C) c.1539T>C (p.Asp513=) c.1644T>C (p.Asp548=) c.1635T>C (p.Asp545=) c.1605T>C (p.Asp535=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.141574179A>T | CA361522248 | DIAPH1 | c.1671T>A (p.Asp557Glu) c.1648T>A (n.1648T>A) c.1539T>A (p.Asp513Glu) c.1644T>A (p.Asp548Glu) c.1635T>A (p.Asp545Glu) c.1605T>A (p.Asp535Glu) | |
| 5 | g.141574180T>A | CA361522257 | DIAPH1 | c.1670A>T (p.Asp557Val) c.1647A>T (n.1647A>T) c.1538A>T (p.Asp513Val) c.1643A>T (p.Asp548Val) c.1634A>T (p.Asp545Val) c.1604A>T (p.Asp535Val) | |
| 5 | g.141574180T>C | CA361522276 | DIAPH1 | c.1670A>G (p.Asp557Gly) c.1647A>G (n.1647A>G) c.1538A>G (p.Asp513Gly) c.1643A>G (p.Asp548Gly) c.1634A>G (p.Asp545Gly) c.1604A>G (p.Asp535Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.141574180T>G | CA361522280 | DIAPH1 | c.1670A>C (p.Asp557Ala) c.1647A>C (n.1647A>C) c.1538A>C (p.Asp513Ala) c.1643A>C (p.Asp548Ala) c.1634A>C (p.Asp545Ala) c.1604A>C (p.Asp535Ala) | |
| 5 | g.141574180T= | CA1587248674 | DIAPH1 | c.1670A= (p.Asp557=) c.1647A= (n.1647A=) c.1538A= (p.Asp513=) c.1643A= (p.Asp548=) c.1634A= (p.Asp545=) c.1604A= (p.Asp535=) | |
| 5 | g.141574181C>A | CA361522285 | DIAPH1 | c.1669G>T (p.Asp557Tyr) c.1646G>T (n.1646G>T) c.1537G>T (p.Asp513Tyr) c.1642G>T (p.Asp548Tyr) c.1633G>T (p.Asp545Tyr) c.1603G>T (p.Asp535Tyr) | |
| 5 | g.141574181C= | CA1587248680 | DIAPH1 | c.1669G= (p.Asp557=) c.1646G= (n.1646G=) c.1537G= (p.Asp513=) c.1642G= (p.Asp548=) c.1633G= (p.Asp545=) c.1603G= (p.Asp535=) | |
| 5 | g.141574181C>G | CA361522293 | DIAPH1 | c.1669G>C (p.Asp557His) c.1646G>C (n.1646G>C) c.1537G>C (p.Asp513His) c.1642G>C (p.Asp548His) c.1633G>C (p.Asp545His) c.1603G>C (p.Asp535His) | |
| 5 | g.141574181C>T | CA361522297 | DIAPH1 | c.1669G>A (p.Asp557Asn) c.1646G>A (n.1646G>A) c.1537G>A (p.Asp513Asn) c.1642G>A (p.Asp548Asn) c.1633G>A (p.Asp545Asn) c.1603G>A (p.Asp535Asn) | dbSNP |
| 5 | g.141574182T>A | CA361522304 | DIAPH1 | c.1668A>T (p.Glu556Asp) c.1645A>T (n.1645A>T) c.1536A>T (p.Glu512Asp) c.1641A>T (p.Glu547Asp) c.1632A>T (p.Glu544Asp) c.1602A>T (p.Glu534Asp) | |
| 5 | g.141574182T>C | CA446892438 | DIAPH1 | c.1668A>G (p.Glu556=) c.1645A>G (n.1645A>G) c.1536A>G (p.Glu512=) c.1641A>G (p.Glu547=) c.1632A>G (p.Glu544=) c.1602A>G (p.Glu534=) | |
| 5 | g.141574182T>G | CA361522308 | DIAPH1 | c.1668A>C (p.Glu556Asp) c.1645A>C (n.1645A>C) c.1536A>C (p.Glu512Asp) c.1641A>C (p.Glu547Asp) c.1632A>C (p.Glu544Asp) c.1602A>C (p.Glu534Asp) | |
| 5 | g.141574183T>A | CA361522312 | DIAPH1 | c.1667A>T (p.Glu556Val) c.1644A>T (n.1644A>T) c.1535A>T (p.Glu512Val) c.1640A>T (p.Glu547Val) c.1631A>T (p.Glu544Val) c.1601A>T (p.Glu534Val) | |
| 5 | g.141574183T>C | CA361522316 | DIAPH1 | c.1667A>G (p.Glu556Gly) c.1644A>G (n.1644A>G) c.1535A>G (p.Glu512Gly) c.1640A>G (p.Glu547Gly) c.1631A>G (p.Glu544Gly) c.1601A>G (p.Glu534Gly) | |
| 5 | g.141574183T>G | CA361522336 | DIAPH1 | c.1667A>C (p.Glu556Ala) c.1644A>C (n.1644A>C) c.1535A>C (p.Glu512Ala) c.1640A>C (p.Glu547Ala) c.1631A>C (p.Glu544Ala) c.1601A>C (p.Glu534Ala) | |
| 5 | g.141574184C>A | CA361522341 | DIAPH1 | c.1666G>T (p.Glu556Ter) c.1643G>T (n.1643G>T) c.1534G>T (p.Glu512Ter) c.1639G>T (p.Glu547Ter) c.1630G>T (p.Glu544Ter) c.1600G>T (p.Glu534Ter) | |
| 5 | g.141574184C= | CA1587248687 | DIAPH1 | c.1666G= (p.Glu556=) c.1643G= (n.1643G=) c.1534G= (p.Glu512=) c.1639G= (p.Glu547=) c.1630G= (p.Glu544=) c.1600G= (p.Glu534=) | |
| 5 | g.141574184C>G | CA361522347 | DIAPH1 | c.1666G>C (p.Glu556Gln) c.1643G>C (n.1643G>C) c.1534G>C (p.Glu512Gln) c.1639G>C (p.Glu547Gln) c.1630G>C (p.Glu544Gln) c.1600G>C (p.Glu534Gln) | ClinVar dbSNP |
| 5 | g.141574184C>T | CA361522339 | DIAPH1 | c.1666G>A (p.Glu556Lys) c.1643G>A (n.1643G>A) c.1534G>A (p.Glu512Lys) c.1639G>A (p.Glu547Lys) c.1630G>A (p.Glu544Lys) c.1600G>A (p.Glu534Lys) | gnomAD v4 |
| 5 | g.141574185C>A | CA446892439 | DIAPH1 | c.1665G>T (p.Leu555=) c.1642G>T (n.1642G>T) c.1533G>T (p.Leu511=) c.1638G>T (p.Leu546=) c.1629G>T (p.Leu543=) c.1599G>T (p.Leu533=) | |
| 5 | g.141574185C>G | CA446892440 | DIAPH1 | c.1665G>C (p.Leu555=) c.1642G>C (n.1642G>C) c.1533G>C (p.Leu511=) c.1638G>C (p.Leu546=) c.1629G>C (p.Leu543=) c.1599G>C (p.Leu533=) | |
| 5 | g.141574185C>T | CA446892441 | DIAPH1 | c.1665G>A (p.Leu555=) c.1642G>A (n.1642G>A) c.1533G>A (p.Leu511=) c.1638G>A (p.Leu546=) c.1629G>A (p.Leu543=) c.1599G>A (p.Leu533=) | |
| 5 | g.141574186A>C | CA361522350 | DIAPH1 | c.1664T>G (p.Leu555Arg) c.1641T>G (n.1641T>G) c.1532T>G (p.Leu511Arg) c.1637T>G (p.Leu546Arg) c.1628T>G (p.Leu543Arg) c.1598T>G (p.Leu533Arg) | |
| 5 | g.141574186A>G | CA361522353 | DIAPH1 | c.1664T>C (p.Leu555Pro) c.1641T>C (n.1641T>C) c.1532T>C (p.Leu511Pro) c.1637T>C (p.Leu546Pro) c.1628T>C (p.Leu543Pro) c.1598T>C (p.Leu533Pro) | |
| 5 | g.141574186A>T | CA361522357 | DIAPH1 | c.1664T>A (p.Leu555Gln) c.1641T>A (n.1641T>A) c.1532T>A (p.Leu511Gln) c.1637T>A (p.Leu546Gln) c.1628T>A (p.Leu543Gln) c.1598T>A (p.Leu533Gln) | |
| 5 | g.141574187G>A | CA446892442 | DIAPH1 | c.1663C>T (p.Leu555=) c.1640C>T (n.1640C>T) c.1531C>T (p.Leu511=) c.1636C>T (p.Leu546=) c.1627C>T (p.Leu543=) c.1597C>T (p.Leu533=) | gnomAD v4 |
| 5 | g.141574187G>C | CA361522360 | DIAPH1 | c.1663C>G (p.Leu555Val) c.1640C>G (n.1640C>G) c.1531C>G (p.Leu511Val) c.1636C>G (p.Leu546Val) c.1627C>G (p.Leu543Val) c.1597C>G (p.Leu533Val) | |
| 5 | g.141574187G>T | CA361522364 | DIAPH1 | c.1663C>A (p.Leu555Met) c.1640C>A (n.1640C>A) c.1531C>A (p.Leu511Met) c.1636C>A (p.Leu546Met) c.1627C>A (p.Leu543Met) c.1597C>A (p.Leu533Met) | |
| 5 | g.141574188T>A | CA361522366 | DIAPH1 | c.1662A>T (p.Glu554Asp) c.1639A>T (n.1639A>T) c.1530A>T (p.Glu510Asp) c.1635A>T (p.Glu545Asp) c.1626A>T (p.Glu542Asp) c.1596A>T (p.Glu532Asp) | |
| 5 | g.141574188T>C | CA446892443 | DIAPH1 | c.1662A>G (p.Glu554=) c.1639A>G (n.1639A>G) c.1530A>G (p.Glu510=) c.1635A>G (p.Glu545=) c.1626A>G (p.Glu542=) c.1596A>G (p.Glu532=) | gnomAD v4 |
| 5 | g.141574188T>G | CA361522376 | DIAPH1 | c.1662A>C (p.Glu554Asp) c.1639A>C (n.1639A>C) c.1530A>C (p.Glu510Asp) c.1635A>C (p.Glu545Asp) c.1626A>C (p.Glu542Asp) c.1596A>C (p.Glu532Asp) | |
| 5 | g.141574189T>A | CA361522378 | DIAPH1 | c.1661A>T (p.Glu554Val) c.1638A>T (n.1638A>T) c.1529A>T (p.Glu510Val) c.1634A>T (p.Glu545Val) c.1625A>T (p.Glu542Val) c.1595A>T (p.Glu532Val) | |
| 5 | g.141574189T>C | CA361522384 | DIAPH1 | c.1661A>G (p.Glu554Gly) c.1638A>G (n.1638A>G) c.1529A>G (p.Glu510Gly) c.1634A>G (p.Glu545Gly) c.1625A>G (p.Glu542Gly) c.1595A>G (p.Glu532Gly) | |
| 5 | g.141574189T>G | CA361522388 | DIAPH1 | c.1661A>C (p.Glu554Ala) c.1638A>C (n.1638A>C) c.1529A>C (p.Glu510Ala) c.1634A>C (p.Glu545Ala) c.1625A>C (p.Glu542Ala) c.1595A>C (p.Glu532Ala) | |
| 5 | g.141574190C>A | CA361522394 | DIAPH1 | c.1660G>T (p.Glu554Ter) c.1637G>T (n.1637G>T) c.1528G>T (p.Glu510Ter) c.1633G>T (p.Glu545Ter) c.1624G>T (p.Glu542Ter) c.1594G>T (p.Glu532Ter) | |
| 5 | g.141574190C= | CA1587248692 | DIAPH1 | c.1660G= (p.Glu554=) c.1637G= (n.1637G=) c.1528G= (p.Glu510=) c.1633G= (p.Glu545=) c.1624G= (p.Glu542=) c.1594G= (p.Glu532=) | |
| 5 | g.141574190C>G | CA361522397 | DIAPH1 | c.1660G>C (p.Glu554Gln) c.1637G>C (n.1637G>C) c.1528G>C (p.Glu510Gln) c.1633G>C (p.Glu545Gln) c.1624G>C (p.Glu542Gln) c.1594G>C (p.Glu532Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.141574190C>T | CA361522407 | DIAPH1 | c.1660G>A (p.Glu554Lys) c.1637G>A (n.1637G>A) c.1528G>A (p.Glu510Lys) c.1633G>A (p.Glu545Lys) c.1624G>A (p.Glu542Lys) c.1594G>A (p.Glu532Lys) | |
| 5 | g.141574191C>A | CA361522427 | DIAPH1 | c.1659G>T (p.Lys553Asn) c.1636G>T (n.1636G>T) c.1527G>T (p.Lys509Asn) c.1632G>T (p.Lys544Asn) c.1623G>T (p.Lys541Asn) c.1593G>T (p.Lys531Asn) | |
| 5 | g.141574191C= | CA1587248701 | DIAPH1 | c.1659G= (p.Lys553=) c.1636G= (n.1636G=) c.1527G= (p.Lys509=) c.1632G= (p.Lys544=) c.1623G= (p.Lys541=) c.1593G= (p.Lys531=) | |
| 5 | g.141574191C>G | CA361522426 | DIAPH1 | c.1659G>C (p.Lys553Asn) c.1636G>C (n.1636G>C) c.1527G>C (p.Lys509Asn) c.1632G>C (p.Lys544Asn) c.1623G>C (p.Lys541Asn) c.1593G>C (p.Lys531Asn) | |
| 5 | g.141574191C>T | CA3479235 | DIAPH1 | c.1659G>A (p.Lys553=) c.1636G>A (n.1636G>A) c.1527G>A (p.Lys509=) c.1632G>A (p.Lys544=) c.1623G>A (p.Lys541=) c.1593G>A (p.Lys531=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.141574192T>A | CA361522430 | DIAPH1 | c.1658A>T (p.Lys553Met) c.1635A>T (n.1635A>T) c.1526A>T (p.Lys509Met) c.1631A>T (p.Lys544Met) c.1622A>T (p.Lys541Met) c.1592A>T (p.Lys531Met) | |
| 5 | g.141574192T>C | CA361522434 | DIAPH1 | c.1658A>G (p.Lys553Arg) c.1635A>G (n.1635A>G) c.1526A>G (p.Lys509Arg) c.1631A>G (p.Lys544Arg) c.1622A>G (p.Lys541Arg) c.1592A>G (p.Lys531Arg) | |
| 5 | g.141574192T>G | CA361522438 | DIAPH1 | c.1658A>C (p.Lys553Thr) c.1635A>C (n.1635A>C) c.1526A>C (p.Lys509Thr) c.1631A>C (p.Lys544Thr) c.1622A>C (p.Lys541Thr) c.1592A>C (p.Lys531Thr) | |
| 5 | g.141574193T>A | CA361522440 | DIAPH1 | c.1657A>T (p.Lys553Ter) c.1634A>T (n.1634A>T) c.1525A>T (p.Lys509Ter) c.1630A>T (p.Lys544Ter) c.1621A>T (p.Lys541Ter) c.1591A>T (p.Lys531Ter) | |
| 5 | g.141574193T>C | CA361522441 | DIAPH1 | c.1657A>G (p.Lys553Glu) c.1634A>G (n.1634A>G) c.1525A>G (p.Lys509Glu) c.1630A>G (p.Lys544Glu) c.1621A>G (p.Lys541Glu) c.1591A>G (p.Lys531Glu) | |
| 5 | g.141574193T>G | CA361522443 | DIAPH1 | c.1657A>C (p.Lys553Gln) c.1634A>C (n.1634A>C) c.1525A>C (p.Lys509Gln) c.1630A>C (p.Lys544Gln) c.1621A>C (p.Lys541Gln) c.1591A>C (p.Lys531Gln) | |
| 5 | g.141574194T>A | CA446892444 | DIAPH1 | c.1656A>T (p.Thr552=) c.1633A>T (n.1633A>T) c.1524A>T (p.Thr508=) c.1629A>T (p.Thr543=) c.1620A>T (p.Thr540=) c.1590A>T (p.Thr530=) | |
| 5 | g.141574194T>C | CA446892445 | DIAPH1 | c.1656A>G (p.Thr552=) c.1633A>G (n.1633A>G) c.1524A>G (p.Thr508=) c.1629A>G (p.Thr543=) c.1620A>G (p.Thr540=) c.1590A>G (p.Thr530=) | |
| 5 | g.141574194T>G | CA446892446 | DIAPH1 | c.1656A>C (p.Thr552=) c.1633A>C (n.1633A>C) c.1524A>C (p.Thr508=) c.1629A>C (p.Thr543=) c.1620A>C (p.Thr540=) c.1590A>C (p.Thr530=) | |
| 5 | g.141574194_141574195insC | CA2675691980 | DIAPH1 | c.1655_1656insG (p.Glu554GlyfsTer25) c.1632_1633insG (n.1632_1633insG) c.1523_1524insG (p.Glu510GlyfsTer25) c.1628_1629insG (p.Glu545GlyfsTer25) c.1619_1620insG (p.Glu542GlyfsTer25) c.1589_1590insG (p.Glu532GlyfsTer25) | gnomAD v4 |
| 5 | g.141574195G>A | CA361522450 | DIAPH1 | c.1655C>T (p.Thr552Ile) c.1632C>T (n.1632C>T) c.1523C>T (p.Thr508Ile) c.1628C>T (p.Thr543Ile) c.1619C>T (p.Thr540Ile) c.1589C>T (p.Thr530Ile) | |
| 5 | g.141574195G>C | CA361522452 | DIAPH1 | c.1655C>G (p.Thr552Arg) c.1632C>G (n.1632C>G) c.1523C>G (p.Thr508Arg) c.1628C>G (p.Thr543Arg) c.1619C>G (p.Thr540Arg) c.1589C>G (p.Thr530Arg) | |
| 5 | g.141574195G>T | CA361522456 | DIAPH1 | c.1655C>A (p.Thr552Lys) c.1632C>A (n.1632C>A) c.1523C>A (p.Thr508Lys) c.1628C>A (p.Thr543Lys) c.1619C>A (p.Thr540Lys) c.1589C>A (p.Thr530Lys) | |
| 5 | g.141574196T>A | CA361522463 | DIAPH1 | c.1654A>T (p.Thr552Ser) c.1631A>T (n.1631A>T) c.1522A>T (p.Thr508Ser) c.1627A>T (p.Thr543Ser) c.1618A>T (p.Thr540Ser) c.1588A>T (p.Thr530Ser) | |
| 5 | g.141574196T>C | CA361522477 | DIAPH1 | c.1654A>G (p.Thr552Ala) c.1631A>G (n.1631A>G) c.1522A>G (p.Thr508Ala) c.1627A>G (p.Thr543Ala) c.1618A>G (p.Thr540Ala) c.1588A>G (p.Thr530Ala) | |
| 5 | g.141574196T>G | CA361522482 | DIAPH1 | c.1654A>C (p.Thr552Pro) c.1631A>C (n.1631A>C) c.1522A>C (p.Thr508Pro) c.1627A>C (p.Thr543Pro) c.1618A>C (p.Thr540Pro) c.1588A>C (p.Thr530Pro) | |
| 5 | g.141574197C>A | CA446892447 | DIAPH1 | c.1653G>T (p.Leu551=) c.1630G>T (n.1630G>T) c.1521G>T (p.Leu507=) c.1626G>T (p.Leu542=) c.1617G>T (p.Leu539=) c.1587G>T (p.Leu529=) | |
| 5 | g.141574197C= | CA1587248702 | DIAPH1 | c.1653G= (p.Leu551=) c.1630G= (n.1630G=) c.1521G= (p.Leu507=) c.1626G= (p.Leu542=) c.1617G= (p.Leu539=) c.1587G= (p.Leu529=) | |
| 5 | g.141574197C>G | CA3479236 | DIAPH1 | c.1653G>C (p.Leu551=) c.1630G>C (n.1630G>C) c.1521G>C (p.Leu507=) c.1626G>C (p.Leu542=) c.1617G>C (p.Leu539=) c.1587G>C (p.Leu529=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.141574197C>T | CA446892448 | DIAPH1 | c.1653G>A (p.Leu551=) c.1630G>A (n.1630G>A) c.1521G>A (p.Leu507=) c.1626G>A (p.Leu542=) c.1617G>A (p.Leu539=) c.1587G>A (p.Leu529=) | |
| 5 | g.141574198A= | CA1587248705 | DIAPH1 | c.1652T= (p.Leu551=) c.1629T= (n.1629T=) c.1520T= (p.Leu507=) c.1625T= (p.Leu542=) c.1616T= (p.Leu539=) c.1586T= (p.Leu529=) | |
| 5 | g.141574198A>C | CA361522503 | DIAPH1 | c.1652T>G (p.Leu551Arg) c.1629T>G (n.1629T>G) c.1520T>G (p.Leu507Arg) c.1625T>G (p.Leu542Arg) c.1616T>G (p.Leu539Arg) c.1586T>G (p.Leu529Arg) | |
| 5 | g.141574198A>G | CA361522499 | DIAPH1 | c.1652T>C (p.Leu551Pro) c.1629T>C (n.1629T>C) c.1520T>C (p.Leu507Pro) c.1625T>C (p.Leu542Pro) c.1616T>C (p.Leu539Pro) c.1586T>C (p.Leu529Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.141574198A>T | CA361522496 | DIAPH1 | c.1652T>A (p.Leu551Gln) c.1629T>A (n.1629T>A) c.1520T>A (p.Leu507Gln) c.1625T>A (p.Leu542Gln) c.1616T>A (p.Leu539Gln) c.1586T>A (p.Leu529Gln) | |
| 5 | g.141574199G>A | CA446892449 | DIAPH1 | c.1651C>T (p.Leu551=) c.1628C>T (n.1628C>T) c.1519C>T (p.Leu507=) c.1624C>T (p.Leu542=) c.1615C>T (p.Leu539=) c.1585C>T (p.Leu529=) | |
| 5 | g.141574199G>C | CA361522510 | DIAPH1 | c.1651C>G (p.Leu551Val) c.1628C>G (n.1628C>G) c.1519C>G (p.Leu507Val) c.1624C>G (p.Leu542Val) c.1615C>G (p.Leu539Val) c.1585C>G (p.Leu529Val) | |
| 5 | g.141574199G>T | CA361522515 | DIAPH1 | c.1651C>A (p.Leu551Met) c.1628C>A (n.1628C>A) c.1519C>A (p.Leu507Met) c.1624C>A (p.Leu542Met) c.1615C>A (p.Leu539Met) c.1585C>A (p.Leu529Met) | |
| 5 | g.141574200C>A | CA361522522 | DIAPH1 | c.1650G>T (p.Lys550Asn) c.1627G>T (n.1627G>T) c.1518G>T (p.Lys506Asn) c.1623G>T (p.Lys541Asn) c.1614G>T (p.Lys538Asn) c.1584G>T (p.Lys528Asn) | |
| 5 | g.141574200C= | CA1587248711 | DIAPH1 | c.1650G= (p.Lys550=) c.1627G= (n.1627G=) c.1518G= (p.Lys506=) c.1623G= (p.Lys541=) c.1614G= (p.Lys538=) c.1584G= (p.Lys528=) | |
| 5 | g.141574200C>G | CA361522531 | DIAPH1 | c.1650G>C (p.Lys550Asn) c.1627G>C (n.1627G>C) c.1518G>C (p.Lys506Asn) c.1623G>C (p.Lys541Asn) c.1614G>C (p.Lys538Asn) c.1584G>C (p.Lys528Asn) | gnomAD v4 |
| 5 | g.141574200C>T | CA3479237 | DIAPH1 | c.1650G>A (p.Lys550=) c.1627G>A (n.1627G>A) c.1518G>A (p.Lys506=) c.1623G>A (p.Lys541=) c.1614G>A (p.Lys538=) c.1584G>A (p.Lys528=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.141574201T>A | CA361522539 | DIAPH1 | c.1649A>T (p.Lys550Met) c.1626A>T (n.1626A>T) c.1517A>T (p.Lys506Met) c.1622A>T (p.Lys541Met) c.1613A>T (p.Lys538Met) c.1583A>T (p.Lys528Met) | |
| 5 | g.141574201T>C | CA361522542 | DIAPH1 | c.1649A>G (p.Lys550Arg) c.1626A>G (n.1626A>G) c.1517A>G (p.Lys506Arg) c.1622A>G (p.Lys541Arg) c.1613A>G (p.Lys538Arg) c.1583A>G (p.Lys528Arg) | |
| 5 | g.141574201T>G | CA361522547 | DIAPH1 | c.1649A>C (p.Lys550Thr) c.1626A>C (n.1626A>C) c.1517A>C (p.Lys506Thr) c.1622A>C (p.Lys541Thr) c.1613A>C (p.Lys538Thr) c.1583A>C (p.Lys528Thr) | |
| 5 | g.141574202T>A | CA361522550 | DIAPH1 | c.1648A>T (p.Lys550Ter) c.1625A>T (n.1625A>T) c.1516A>T (p.Lys506Ter) c.1621A>T (p.Lys541Ter) c.1612A>T (p.Lys538Ter) c.1582A>T (p.Lys528Ter) | |
| 5 | g.141574202T>C | CA361522552 | DIAPH1 | c.1648A>G (p.Lys550Glu) c.1625A>G (n.1625A>G) c.1516A>G (p.Lys506Glu) c.1621A>G (p.Lys541Glu) c.1612A>G (p.Lys538Glu) c.1582A>G (p.Lys528Glu) | |
| 5 | g.141574202T>G | CA3479238 | DIAPH1 | c.1648A>C (p.Lys550Gln) c.1625A>C (n.1625A>C) c.1516A>C (p.Lys506Gln) c.1621A>C (p.Lys541Gln) c.1612A>C (p.Lys538Gln) c.1582A>C (p.Lys528Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.141574202T= | CA1587248714 | DIAPH1 | c.1648A= (p.Lys550=) c.1625A= (n.1625A=) c.1516A= (p.Lys506=) c.1621A= (p.Lys541=) c.1612A= (p.Lys538=) c.1582A= (p.Lys528=) | |
| 5 | g.141574203G>A | CA3479239 | DIAPH1 | c.1647C>T (p.Ala549=) c.1624C>T (n.1624C>T) c.1515C>T (p.Ala505=) c.1620C>T (p.Ala540=) c.1611C>T (p.Ala537=) c.1581C>T (p.Ala527=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.141574203G>C | CA446892450 | DIAPH1 | c.1647C>G (p.Ala549=) c.1624C>G (n.1624C>G) c.1515C>G (p.Ala505=) c.1620C>G (p.Ala540=) c.1611C>G (p.Ala537=) c.1581C>G (p.Ala527=) | |
| 5 | g.141574203G= | CA1587248718 | DIAPH1 | c.1647C= (p.Ala549=) c.1624C= (n.1624C=) c.1515C= (p.Ala505=) c.1620C= (p.Ala540=) c.1611C= (p.Ala537=) c.1581C= (p.Ala527=) | |
| 5 | g.141574203G>T | CA446892451 | DIAPH1 | c.1647C>A (p.Ala549=) c.1624C>A (n.1624C>A) c.1515C>A (p.Ala505=) c.1620C>A (p.Ala540=) c.1611C>A (p.Ala537=) c.1581C>A (p.Ala527=) | |
| 5 | g.141574204G>A | CA361522563 | DIAPH1 | c.1646C>T (p.Ala549Val) c.1623C>T (n.1623C>T) c.1514C>T (p.Ala505Val) c.1619C>T (p.Ala540Val) c.1610C>T (p.Ala537Val) c.1580C>T (p.Ala527Val) | |
| 5 | g.141574204G>C | CA361522565 | DIAPH1 | c.1646C>G (p.Ala549Gly) c.1623C>G (n.1623C>G) c.1514C>G (p.Ala505Gly) c.1619C>G (p.Ala540Gly) c.1610C>G (p.Ala537Gly) c.1580C>G (p.Ala527Gly) | |
| 5 | g.141574204G>T | CA361522583 | DIAPH1 | c.1646C>A (p.Ala549Asp) c.1623C>A (n.1623C>A) c.1514C>A (p.Ala505Asp) c.1619C>A (p.Ala540Asp) c.1610C>A (p.Ala537Asp) c.1580C>A (p.Ala527Asp) | gnomAD v4 |
| 5 | g.141574205C>A | CA361522586 | DIAPH1 | c.1645G>T (p.Ala549Ser) c.1622G>T (n.1622G>T) c.1513G>T (p.Ala505Ser) c.1618G>T (p.Ala540Ser) c.1609G>T (p.Ala537Ser) c.1579G>T (p.Ala527Ser) | |
| 5 | g.141574205C>G | CA361522587 | DIAPH1 | c.1645G>C (p.Ala549Pro) c.1622G>C (n.1622G>C) c.1513G>C (p.Ala505Pro) c.1618G>C (p.Ala540Pro) c.1609G>C (p.Ala537Pro) c.1579G>C (p.Ala527Pro) | |
| 5 | g.141574205C>T | CA361522588 | DIAPH1 | c.1645G>A (p.Ala549Thr) c.1622G>A (n.1622G>A) c.1513G>A (p.Ala505Thr) c.1618G>A (p.Ala540Thr) c.1609G>A (p.Ala537Thr) c.1579G>A (p.Ala527Thr) | gnomAD v4 |
| 5 | g.141574206A= | CA1587248721 | DIAPH1 | c.1644T= (p.Val548=) c.1621T= (n.1621T=) c.1512T= (p.Val504=) c.1617T= (p.Val539=) c.1608T= (p.Val536=) c.1578T= (p.Val526=) | |
| 5 | g.141574206A>C | CA446892452 | DIAPH1 | c.1644T>G (p.Val548=) c.1621T>G (n.1621T>G) c.1512T>G (p.Val504=) c.1617T>G (p.Val539=) c.1608T>G (p.Val536=) c.1578T>G (p.Val526=) | |
| 5 | g.141574206A>G | CA446892453 | DIAPH1 | c.1644T>C (p.Val548=) c.1621T>C (n.1621T>C) c.1512T>C (p.Val504=) c.1617T>C (p.Val539=) c.1608T>C (p.Val536=) c.1578T>C (p.Val526=) | |
| 5 | g.141574206A>T | CA446892454 | DIAPH1 | c.1644T>A (p.Val548=) c.1621T>A (n.1621T>A) c.1512T>A (p.Val504=) c.1617T>A (p.Val539=) c.1608T>A (p.Val536=) c.1578T>A (p.Val526=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.141574207A>C | CA361522596 | DIAPH1 | c.1643T>G (p.Val548Gly) c.1620T>G (n.1620T>G) c.1511T>G (p.Val504Gly) c.1616T>G (p.Val539Gly) c.1607T>G (p.Val536Gly) c.1577T>G (p.Val526Gly) | |
| 5 | g.141574207A>G | CA361522591 | DIAPH1 | c.1643T>C (p.Val548Ala) c.1620T>C (n.1620T>C) c.1511T>C (p.Val504Ala) c.1616T>C (p.Val539Ala) c.1607T>C (p.Val536Ala) c.1577T>C (p.Val526Ala) | gnomAD v4 |
| 5 | g.141574207A>T | CA361522594 | DIAPH1 | c.1643T>A (p.Val548Asp) c.1620T>A (n.1620T>A) c.1511T>A (p.Val504Asp) c.1616T>A (p.Val539Asp) c.1607T>A (p.Val536Asp) c.1577T>A (p.Val526Asp) | |
| 5 | g.141574208C>A | CA361522600 | DIAPH1 | c.1642G>T (p.Val548Phe) c.1619G>T (n.1619G>T) c.1510G>T (p.Val504Phe) c.1615G>T (p.Val539Phe) c.1606G>T (p.Val536Phe) c.1576G>T (p.Val526Phe) | |
| 5 | g.141574208C= | CA1587248725 | DIAPH1 | c.1642G= (p.Val548=) c.1619G= (n.1619G=) c.1510G= (p.Val504=) c.1615G= (p.Val539=) c.1606G= (p.Val536=) c.1576G= (p.Val526=) | |
| 5 | g.141574208C>G | CA361522602 | DIAPH1 | c.1642G>C (p.Val548Leu) c.1619G>C (n.1619G>C) c.1510G>C (p.Val504Leu) c.1615G>C (p.Val539Leu) c.1606G>C (p.Val536Leu) c.1576G>C (p.Val526Leu) | |
| 5 | g.141574208C>T | CA361522617 | DIAPH1 | c.1642G>A (p.Val548Ile) c.1619G>A (n.1619G>A) c.1510G>A (p.Val504Ile) c.1615G>A (p.Val539Ile) c.1606G>A (p.Val536Ile) c.1576G>A (p.Val526Ile) | ClinVar dbSNP |
| 5 | g.141574209C>A | CA361522620 | DIAPH1 | c.1642-1G>T (n.1642-1G>T) c.1619-1G>T (n.1619-1G>T) c.1510-1G>T (n.1510-1G>T) c.1615-1G>T (n.1615-1G>T) c.1606-1G>T (n.1606-1G>T) c.1576-1G>T (n.1576-1G>T) | |
| 5 | g.141574209C>G | CA361522623 | DIAPH1 | c.1642-1G>C (n.1642-1G>C) c.1619-1G>C (n.1619-1G>C) c.1510-1G>C (n.1510-1G>C) c.1615-1G>C (n.1615-1G>C) c.1606-1G>C (n.1606-1G>C) c.1576-1G>C (n.1576-1G>C) | |
| 5 | g.141574209C>T | CA361522629 | DIAPH1 | c.1642-1G>A (n.1642-1G>A) c.1619-1G>A (n.1619-1G>A) c.1510-1G>A (n.1510-1G>A) c.1615-1G>A (n.1615-1G>A) c.1606-1G>A (n.1606-1G>A) c.1576-1G>A (n.1576-1G>A) | |
| 5 | g.141574210T>A | CA361522635 | DIAPH1 | c.1642-2A>T (n.1642-2A>T) c.1619-2A>T (n.1619-2A>T) c.1510-2A>T (n.1510-2A>T) c.1615-2A>T (n.1615-2A>T) c.1606-2A>T (n.1606-2A>T) c.1576-2A>T (n.1576-2A>T) | |
| 5 | g.141574210T>C | CA361522642 | DIAPH1 | c.1642-2A>G (n.1642-2A>G) c.1619-2A>G (n.1619-2A>G) c.1510-2A>G (n.1510-2A>G) c.1615-2A>G (n.1615-2A>G) c.1606-2A>G (n.1606-2A>G) c.1576-2A>G (n.1576-2A>G) | |
| 5 | g.141574210T>G | CA361522643 | DIAPH1 | c.1642-2A>C (n.1642-2A>C) c.1619-2A>C (n.1619-2A>C) c.1510-2A>C (n.1510-2A>C) c.1615-2A>C (n.1615-2A>C) c.1606-2A>C (n.1606-2A>C) c.1576-2A>C (n.1576-2A>C) | |
| 5 | g.141574211A>T | CA2675692004 | DIAPH1 | c.1642-3T>A (n.1642-3T>A) c.1619-3T>A (n.1619-3T>A) c.1510-3T>A (n.1510-3T>A) c.1615-3T>A (n.1615-3T>A) c.1606-3T>A (n.1606-3T>A) c.1576-3T>A (n.1576-3T>A) | gnomAD v4 |