Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.141574069G>A | CA361521248 | DIAPH1 | c.1781C>T (p.Thr594Ile) c.1758C>T (n.1758C>T) c.1649C>T (p.Thr550Ile) c.1754C>T (p.Thr585Ile) c.1745C>T (p.Thr582Ile) c.1715C>T (p.Thr572Ile) | ClinVar dbSNP |
5 | g.141574069G>C | CA361521253 | DIAPH1 | c.1781C>G (p.Thr594Ser) c.1758C>G (n.1758C>G) c.1649C>G (p.Thr550Ser) c.1754C>G (p.Thr585Ser) c.1745C>G (p.Thr582Ser) c.1715C>G (p.Thr572Ser) | |
5 | g.141574069G= | CA1587248381 | DIAPH1 | c.1781C= (p.Thr594=) c.1758C= (n.1758C=) c.1649C= (p.Thr550=) c.1754C= (p.Thr585=) c.1745C= (p.Thr582=) c.1715C= (p.Thr572=) | |
5 | g.141574069G>T | CA361521254 | DIAPH1 | c.1781C>A (p.Thr594Asn) c.1758C>A (n.1758C>A) c.1649C>A (p.Thr550Asn) c.1754C>A (p.Thr585Asn) c.1745C>A (p.Thr582Asn) c.1715C>A (p.Thr572Asn) | ClinVar gnomAD v4 |
5 | g.141574070T>A | CA361521259 | DIAPH1 | c.1780A>T (p.Thr594Ser) c.1757A>T (n.1757A>T) c.1648A>T (p.Thr550Ser) c.1753A>T (p.Thr585Ser) c.1744A>T (p.Thr582Ser) c.1714A>T (p.Thr572Ser) | |
5 | g.141574070T>C | CA361521263 | DIAPH1 | c.1780A>G (p.Thr594Ala) c.1757A>G (n.1757A>G) c.1648A>G (p.Thr550Ala) c.1753A>G (p.Thr585Ala) c.1744A>G (p.Thr582Ala) c.1714A>G (p.Thr572Ala) | dbSNP |
5 | g.141574070T>G | CA361521268 | DIAPH1 | c.1780A>C (p.Thr594Pro) c.1757A>C (n.1757A>C) c.1648A>C (p.Thr550Pro) c.1753A>C (p.Thr585Pro) c.1744A>C (p.Thr582Pro) c.1714A>C (p.Thr572Pro) | |
5 | g.141574070T= | CA1587248383 | DIAPH1 | c.1780A= (p.Thr594=) c.1757A= (n.1757A=) c.1648A= (p.Thr550=) c.1753A= (p.Thr585=) c.1744A= (p.Thr582=) c.1714A= (p.Thr572=) | |
5 | g.141574071G>A | CA446892338 | DIAPH1 | c.1779C>T (p.Gly593=) c.1756C>T (n.1756C>T) c.1647C>T (p.Gly549=) c.1752C>T (p.Gly584=) c.1743C>T (p.Gly581=) c.1713C>T (p.Gly571=) | ClinVar gnomAD v4 |
5 | g.141574071G>C | CA446892339 | DIAPH1 | c.1779C>G (p.Gly593=) c.1756C>G (n.1756C>G) c.1647C>G (p.Gly549=) c.1752C>G (p.Gly584=) c.1743C>G (p.Gly581=) c.1713C>G (p.Gly571=) | |
5 | g.141574071G>T | CA446892340 | DIAPH1 | c.1779C>A (p.Gly593=) c.1756C>A (n.1756C>A) c.1647C>A (p.Gly549=) c.1752C>A (p.Gly584=) c.1743C>A (p.Gly581=) c.1713C>A (p.Gly571=) | |
5 | g.141574072C>A | CA361521285 | DIAPH1 | c.1778G>T (p.Gly593Val) c.1755G>T (n.1755G>T) c.1646G>T (p.Gly549Val) c.1751G>T (p.Gly584Val) c.1742G>T (p.Gly581Val) c.1712G>T (p.Gly571Val) | gnomAD v4 |
5 | g.141574072C>G | CA361521273 | DIAPH1 | c.1778G>C (p.Gly593Ala) c.1755G>C (n.1755G>C) c.1646G>C (p.Gly549Ala) c.1751G>C (p.Gly584Ala) c.1742G>C (p.Gly581Ala) c.1712G>C (p.Gly571Ala) | |
5 | g.141574072C>T | CA361521282 | DIAPH1 | c.1778G>A (p.Gly593Asp) c.1755G>A (n.1755G>A) c.1646G>A (p.Gly549Asp) c.1751G>A (p.Gly584Asp) c.1742G>A (p.Gly581Asp) c.1712G>A (p.Gly571Asp) | |
5 | g.141574073C>A | CA361521288 | DIAPH1 | c.1777G>T (p.Gly593Cys) c.1754G>T (n.1754G>T) c.1645G>T (p.Gly549Cys) c.1750G>T (p.Gly584Cys) c.1741G>T (p.Gly581Cys) c.1711G>T (p.Gly571Cys) | |
5 | g.141574073C>G | CA361521296 | DIAPH1 | c.1777G>C (p.Gly593Arg) c.1754G>C (n.1754G>C) c.1645G>C (p.Gly549Arg) c.1750G>C (p.Gly584Arg) c.1741G>C (p.Gly581Arg) c.1711G>C (p.Gly571Arg) | |
5 | g.141574073C>T | CA361521299 | DIAPH1 | c.1777G>A (p.Gly593Ser) c.1754G>A (n.1754G>A) c.1645G>A (p.Gly549Ser) c.1750G>A (p.Gly584Ser) c.1741G>A (p.Gly581Ser) c.1711G>A (p.Gly571Ser) | |
5 | g.141574074A>C | CA446892343 | DIAPH1 | c.1776T>G (p.Ser592=) c.1753T>G (n.1753T>G) c.1644T>G (p.Ser548=) c.1749T>G (p.Ser583=) c.1740T>G (p.Ser580=) c.1710T>G (p.Ser570=) | gnomAD v4 |
5 | g.141574074A>G | CA446892345 | DIAPH1 | c.1776T>C (p.Ser592=) c.1753T>C (n.1753T>C) c.1644T>C (p.Ser548=) c.1749T>C (p.Ser583=) c.1740T>C (p.Ser580=) c.1710T>C (p.Ser570=) | gnomAD v4 |
5 | g.141574074A>T | CA446892346 | DIAPH1 | c.1776T>A (p.Ser592=) c.1753T>A (n.1753T>A) c.1644T>A (p.Ser548=) c.1749T>A (p.Ser583=) c.1740T>A (p.Ser580=) c.1710T>A (p.Ser570=) | |
5 | g.141574075G>A | CA361521304 | DIAPH1 | c.1775C>T (p.Ser592Phe) c.1752C>T (n.1752C>T) c.1643C>T (p.Ser548Phe) c.1748C>T (p.Ser583Phe) c.1739C>T (p.Ser580Phe) c.1709C>T (p.Ser570Phe) | |
5 | g.141574075G>C | CA361521307 | DIAPH1 | c.1775C>G (p.Ser592Cys) c.1752C>G (n.1752C>G) c.1643C>G (p.Ser548Cys) c.1748C>G (p.Ser583Cys) c.1739C>G (p.Ser580Cys) c.1709C>G (p.Ser570Cys) | |
5 | g.141574075G>T | CA361521310 | DIAPH1 | c.1775C>A (p.Ser592Tyr) c.1752C>A (n.1752C>A) c.1643C>A (p.Ser548Tyr) c.1748C>A (p.Ser583Tyr) c.1739C>A (p.Ser580Tyr) c.1709C>A (p.Ser570Tyr) | |
5 | g.141574076A>C | CA361521317 | DIAPH1 | c.1774T>G (p.Ser592Ala) c.1751T>G (n.1751T>G) c.1642T>G (p.Ser548Ala) c.1747T>G (p.Ser583Ala) c.1738T>G (p.Ser580Ala) c.1708T>G (p.Ser570Ala) | |
5 | g.141574076A>G | CA361521320 | DIAPH1 | c.1774T>C (p.Ser592Pro) c.1751T>C (n.1751T>C) c.1642T>C (p.Ser548Pro) c.1747T>C (p.Ser583Pro) c.1738T>C (p.Ser580Pro) c.1708T>C (p.Ser570Pro) | |
5 | g.141574076A>T | CA361521326 | DIAPH1 | c.1774T>A (p.Ser592Thr) c.1751T>A (n.1751T>A) c.1642T>A (p.Ser548Thr) c.1747T>A (p.Ser583Thr) c.1738T>A (p.Ser580Thr) c.1708T>A (p.Ser570Thr) | |
5 | g.141574077G>A | CA446892348 | DIAPH1 | c.1773C>T (p.Asp591=) c.1750C>T (n.1750C>T) c.1641C>T (p.Asp547=) c.1746C>T (p.Asp582=) c.1737C>T (p.Asp579=) c.1707C>T (p.Asp569=) | gnomAD v4 |
5 | g.141574077G>C | CA361521331 | DIAPH1 | c.1773C>G (p.Asp591Glu) c.1750C>G (n.1750C>G) c.1641C>G (p.Asp547Glu) c.1746C>G (p.Asp582Glu) c.1737C>G (p.Asp579Glu) c.1707C>G (p.Asp569Glu) | |
5 | g.141574077G>T | CA361521333 | DIAPH1 | c.1773C>A (p.Asp591Glu) c.1750C>A (n.1750C>A) c.1641C>A (p.Asp547Glu) c.1746C>A (p.Asp582Glu) c.1737C>A (p.Asp579Glu) c.1707C>A (p.Asp569Glu) | |
5 | g.141574078T>A | CA361521348 | DIAPH1 | c.1772A>T (p.Asp591Val) c.1749A>T (n.1749A>T) c.1640A>T (p.Asp547Val) c.1745A>T (p.Asp582Val) c.1736A>T (p.Asp579Val) c.1706A>T (p.Asp569Val) | |
5 | g.141574078T>C | CA361521339 | DIAPH1 | c.1772A>G (p.Asp591Gly) c.1749A>G (n.1749A>G) c.1640A>G (p.Asp547Gly) c.1745A>G (p.Asp582Gly) c.1736A>G (p.Asp579Gly) c.1706A>G (p.Asp569Gly) | |
5 | g.141574078T>G | CA361521336 | DIAPH1 | c.1772A>C (p.Asp591Ala) c.1749A>C (n.1749A>C) c.1640A>C (p.Asp547Ala) c.1745A>C (p.Asp582Ala) c.1736A>C (p.Asp579Ala) c.1706A>C (p.Asp569Ala) | gnomAD v3 gnomAD v4 |
5 | g.141574079C>A | CA361521353 | DIAPH1 | c.1771G>T (p.Asp591Tyr) c.1748G>T (n.1748G>T) c.1639G>T (p.Asp547Tyr) c.1744G>T (p.Asp582Tyr) c.1735G>T (p.Asp579Tyr) c.1705G>T (p.Asp569Tyr) | |
5 | g.141574079C= | CA1587248386 | DIAPH1 | c.1771G= (p.Asp591=) c.1748G= (n.1748G=) c.1639G= (p.Asp547=) c.1744G= (p.Asp582=) c.1735G= (p.Asp579=) c.1705G= (p.Asp569=) | |
5 | g.141574079C>G | CA361521360 | DIAPH1 | c.1771G>C (p.Asp591His) c.1748G>C (n.1748G>C) c.1639G>C (p.Asp547His) c.1744G>C (p.Asp582His) c.1735G>C (p.Asp579His) c.1705G>C (p.Asp569His) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.141574079C>T | CA361521356 | DIAPH1 | c.1771G>A (p.Asp591Asn) c.1748G>A (n.1748G>A) c.1639G>A (p.Asp547Asn) c.1744G>A (p.Asp582Asn) c.1735G>A (p.Asp579Asn) c.1705G>A (p.Asp569Asn) | |
5 | g.141574080A>C | CA446892350 | DIAPH1 | c.1770T>G (p.Gly590=) c.1747T>G (n.1747T>G) c.1638T>G (p.Gly546=) c.1743T>G (p.Gly581=) c.1734T>G (p.Gly578=) c.1704T>G (p.Gly568=) | |
5 | g.141574080A>G | CA446892352 | DIAPH1 | c.1770T>C (p.Gly590=) c.1747T>C (n.1747T>C) c.1638T>C (p.Gly546=) c.1743T>C (p.Gly581=) c.1734T>C (p.Gly578=) c.1704T>C (p.Gly568=) | |
5 | g.141574080A>T | CA446892351 | DIAPH1 | c.1770T>A (p.Gly590=) c.1747T>A (n.1747T>A) c.1638T>A (p.Gly546=) c.1743T>A (p.Gly581=) c.1734T>A (p.Gly578=) c.1704T>A (p.Gly568=) | |
5 | g.141574081C>A | CA3479214 | DIAPH1 | c.1769G>T (p.Gly590Val) c.1746G>T (n.1746G>T) c.1637G>T (p.Gly546Val) c.1742G>T (p.Gly581Val) c.1733G>T (p.Gly578Val) c.1703G>T (p.Gly568Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.141574081C= | CA1587248395 | DIAPH1 | c.1769G= (p.Gly590=) c.1746G= (n.1746G=) c.1637G= (p.Gly546=) c.1742G= (p.Gly581=) c.1733G= (p.Gly578=) c.1703G= (p.Gly568=) | |
5 | g.141574081C>G | CA361521368 | DIAPH1 | c.1769G>C (p.Gly590Ala) c.1746G>C (n.1746G>C) c.1637G>C (p.Gly546Ala) c.1742G>C (p.Gly581Ala) c.1733G>C (p.Gly578Ala) c.1703G>C (p.Gly568Ala) | ClinVar gnomAD v4 |
5 | g.141574081C>T | CA3479215 | DIAPH1 | c.1769G>A (p.Gly590Asp) c.1746G>A (n.1746G>A) c.1637G>A (p.Gly546Asp) c.1742G>A (p.Gly581Asp) c.1733G>A (p.Gly578Asp) c.1703G>A (p.Gly568Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.141574082C>A | CA361521371 | DIAPH1 | c.1768G>T (p.Gly590Cys) c.1745G>T (n.1745G>T) c.1636G>T (p.Gly546Cys) c.1741G>T (p.Gly581Cys) c.1732G>T (p.Gly578Cys) c.1702G>T (p.Gly568Cys) | |
5 | g.141574082C= | CA1587248399 | DIAPH1 | c.1768G= (p.Gly590=) c.1745G= (n.1745G=) c.1636G= (p.Gly546=) c.1741G= (p.Gly581=) c.1732G= (p.Gly578=) c.1702G= (p.Gly568=) | |
5 | g.141574082C>G | CA361521377 | DIAPH1 | c.1768G>C (p.Gly590Arg) c.1745G>C (n.1745G>C) c.1636G>C (p.Gly546Arg) c.1741G>C (p.Gly581Arg) c.1732G>C (p.Gly578Arg) c.1702G>C (p.Gly568Arg) | |
5 | g.141574082C>T | CA361521374 | DIAPH1 | c.1768G>A (p.Gly590Ser) c.1745G>A (n.1745G>A) c.1636G>A (p.Gly546Ser) c.1741G>A (p.Gly581Ser) c.1732G>A (p.Gly578Ser) c.1702G>A (p.Gly568Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.141574083A>C | CA446892353 | DIAPH1 | c.1767T>G (p.Pro589=) c.1744T>G (n.1744T>G) c.1635T>G (p.Pro545=) c.1740T>G (p.Pro580=) c.1731T>G (p.Pro577=) c.1701T>G (p.Pro567=) | |
5 | g.141574083A>G | CA446892354 | DIAPH1 | c.1767T>C (p.Pro589=) c.1744T>C (n.1744T>C) c.1635T>C (p.Pro545=) c.1740T>C (p.Pro580=) c.1731T>C (p.Pro577=) c.1701T>C (p.Pro567=) | |
5 | g.141574083A>T | CA446892356 | DIAPH1 | c.1767T>A (p.Pro589=) c.1744T>A (n.1744T>A) c.1635T>A (p.Pro545=) c.1740T>A (p.Pro580=) c.1731T>A (p.Pro577=) c.1701T>A (p.Pro567=) | |
5 | g.141574084_141574087del | CA2675691852 | DIAPH1 | c.1764_1767del (p.Pro589ValfsTer?) c.1741_1744del (n.1741_1744del) c.1632_1635del (p.Pro545ValfsTer?) c.1737_1740del (p.Pro580ValfsTer?) c.1728_1731del (p.Pro577ValfsTer?) c.1698_1701del (p.Pro567ValfsTer?) | gnomAD v4 |
5 | g.141574084G>A | CA361521380 | DIAPH1 | c.1766C>T (p.Pro589Leu) c.1743C>T (n.1743C>T) c.1634C>T (p.Pro545Leu) c.1739C>T (p.Pro580Leu) c.1730C>T (p.Pro577Leu) c.1700C>T (p.Pro567Leu) | ClinVar dbSNP gnomAD v4 |
5 | g.141574084G>C | CA128437366 | DIAPH1 | c.1766C>G (p.Pro589Arg) c.1743C>G (n.1743C>G) c.1634C>G (p.Pro545Arg) c.1739C>G (p.Pro580Arg) c.1730C>G (p.Pro577Arg) c.1700C>G (p.Pro567Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.141574084G= | CA1587248405 | DIAPH1 | c.1766C= (p.Pro589=) c.1743C= (n.1743C=) c.1634C= (p.Pro545=) c.1739C= (p.Pro580=) c.1730C= (p.Pro577=) c.1700C= (p.Pro567=) | |
5 | g.141574084G>T | CA361521386 | DIAPH1 | c.1766C>A (p.Pro589His) c.1743C>A (n.1743C>A) c.1634C>A (p.Pro545His) c.1739C>A (p.Pro580His) c.1730C>A (p.Pro577His) c.1700C>A (p.Pro567His) | |
5 | g.141574085G>A | CA361521391 | DIAPH1 | c.1765C>T (p.Pro589Ser) c.1742C>T (n.1742C>T) c.1633C>T (p.Pro545Ser) c.1738C>T (p.Pro580Ser) c.1729C>T (p.Pro577Ser) c.1699C>T (p.Pro567Ser) | |
5 | g.141574085G>C | CA361521392 | DIAPH1 | c.1765C>G (p.Pro589Ala) c.1742C>G (n.1742C>G) c.1633C>G (p.Pro545Ala) c.1738C>G (p.Pro580Ala) c.1729C>G (p.Pro577Ala) c.1699C>G (p.Pro567Ala) | |
5 | g.141574085G>T | CA361521393 | DIAPH1 | c.1765C>A (p.Pro589Thr) c.1742C>A (n.1742C>A) c.1633C>A (p.Pro545Thr) c.1738C>A (p.Pro580Thr) c.1729C>A (p.Pro577Thr) c.1699C>A (p.Pro567Thr) | gnomAD v4 |
5 | g.141574086T>A | CA361521395 | DIAPH1 | c.1764A>T (p.Leu588Phe) c.1741A>T (n.1741A>T) c.1632A>T (p.Leu544Phe) c.1737A>T (p.Leu579Phe) c.1728A>T (p.Leu576Phe) c.1698A>T (p.Leu566Phe) | |
5 | g.141574086T>C | CA446892359 | DIAPH1 | c.1764A>G (p.Leu588=) c.1741A>G (n.1741A>G) c.1632A>G (p.Leu544=) c.1737A>G (p.Leu579=) c.1728A>G (p.Leu576=) c.1698A>G (p.Leu566=) | |
5 | g.141574086T>G | CA361521398 | DIAPH1 | c.1764A>C (p.Leu588Phe) c.1741A>C (n.1741A>C) c.1632A>C (p.Leu544Phe) c.1737A>C (p.Leu579Phe) c.1728A>C (p.Leu576Phe) c.1698A>C (p.Leu566Phe) | |
5 | g.141574087A>C | CA361521406 | DIAPH1 | c.1763T>G (p.Leu588Ter) c.1740T>G (n.1740T>G) c.1631T>G (p.Leu544Ter) c.1736T>G (p.Leu579Ter) c.1727T>G (p.Leu576Ter) c.1697T>G (p.Leu566Ter) | |
5 | g.141574087A>G | CA361521418 | DIAPH1 | c.1763T>C (p.Leu588Ser) c.1740T>C (n.1740T>C) c.1631T>C (p.Leu544Ser) c.1736T>C (p.Leu579Ser) c.1727T>C (p.Leu576Ser) c.1697T>C (p.Leu566Ser) | |
5 | g.141574087A>T | CA361521422 | DIAPH1 | c.1763T>A (p.Leu588Ter) c.1740T>A (n.1740T>A) c.1631T>A (p.Leu544Ter) c.1736T>A (p.Leu579Ter) c.1727T>A (p.Leu576Ter) c.1697T>A (p.Leu566Ter) | |
5 | g.141574088A= | CA1587248410 | DIAPH1 | c.1762T= (p.Leu588=) c.1739T= (n.1739T=) c.1630T= (p.Leu544=) c.1735T= (p.Leu579=) c.1726T= (p.Leu576=) c.1696T= (p.Leu566=) | |
5 | g.141574088A>C | CA361521425 | DIAPH1 | c.1762T>G (p.Leu588Val) c.1739T>G (n.1739T>G) c.1630T>G (p.Leu544Val) c.1735T>G (p.Leu579Val) c.1726T>G (p.Leu576Val) c.1696T>G (p.Leu566Val) | |
5 | g.141574088A>G | CA446892361 | DIAPH1 | c.1762T>C (p.Leu588=) c.1739T>C (n.1739T>C) c.1630T>C (p.Leu544=) c.1735T>C (p.Leu579=) c.1726T>C (p.Leu576=) c.1696T>C (p.Leu566=) | |
5 | g.141574088A>T | CA3479216 | DIAPH1 | c.1762T>A (p.Leu588Ile) c.1739T>A (n.1739T>A) c.1630T>A (p.Leu544Ile) c.1735T>A (p.Leu579Ile) c.1726T>A (p.Leu576Ile) c.1696T>A (p.Leu566Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.141574089A>C | CA446892362 | DIAPH1 | c.1761T>G (p.Pro587=) c.1738T>G (n.1738T>G) c.1629T>G (p.Pro543=) c.1734T>G (p.Pro578=) c.1725T>G (p.Pro575=) c.1695T>G (p.Pro565=) | |
5 | g.141574089A>G | CA446892363 | DIAPH1 | c.1761T>C (p.Pro587=) c.1738T>C (n.1738T>C) c.1629T>C (p.Pro543=) c.1734T>C (p.Pro578=) c.1725T>C (p.Pro575=) c.1695T>C (p.Pro565=) | |
5 | g.141574089A>T | CA446892364 | DIAPH1 | c.1761T>A (p.Pro587=) c.1738T>A (n.1738T>A) c.1629T>A (p.Pro543=) c.1734T>A (p.Pro578=) c.1725T>A (p.Pro575=) c.1695T>A (p.Pro565=) | |
5 | g.141574090G>A | CA361521435 | DIAPH1 | c.1760C>T (p.Pro587Leu) c.1737C>T (n.1737C>T) c.1628C>T (p.Pro543Leu) c.1733C>T (p.Pro578Leu) c.1724C>T (p.Pro575Leu) c.1694C>T (p.Pro565Leu) | dbSNP gnomAD v4 |
5 | g.141574090G>C | CA361521437 | DIAPH1 | c.1760C>G (p.Pro587Arg) c.1737C>G (n.1737C>G) c.1628C>G (p.Pro543Arg) c.1733C>G (p.Pro578Arg) c.1724C>G (p.Pro575Arg) c.1694C>G (p.Pro565Arg) | |
5 | g.141574090G= | CA1587248413 | DIAPH1 | c.1760C= (p.Pro587=) c.1737C= (n.1737C=) c.1628C= (p.Pro543=) c.1733C= (p.Pro578=) c.1724C= (p.Pro575=) c.1694C= (p.Pro565=) | |
5 | g.141574090G>T | CA361521440 | DIAPH1 | c.1760C>A (p.Pro587His) c.1737C>A (n.1737C>A) c.1628C>A (p.Pro543His) c.1733C>A (p.Pro578His) c.1724C>A (p.Pro575His) c.1694C>A (p.Pro565His) | |
5 | g.141574091G>A | CA361521444 | DIAPH1 | c.1759C>T (p.Pro587Ser) c.1736C>T (n.1736C>T) c.1627C>T (p.Pro543Ser) c.1732C>T (p.Pro578Ser) c.1723C>T (p.Pro575Ser) c.1693C>T (p.Pro565Ser) | |
5 | g.141574091G>C | CA361521447 | DIAPH1 | c.1759C>G (p.Pro587Ala) c.1736C>G (n.1736C>G) c.1627C>G (p.Pro543Ala) c.1732C>G (p.Pro578Ala) c.1723C>G (p.Pro575Ala) c.1693C>G (p.Pro565Ala) | |
5 | g.141574091G>T | CA361521450 | DIAPH1 | c.1759C>A (p.Pro587Thr) c.1736C>A (n.1736C>A) c.1627C>A (p.Pro543Thr) c.1732C>A (p.Pro578Thr) c.1723C>A (p.Pro575Thr) c.1693C>A (p.Pro565Thr) | |
5 | g.141574092A>C | CA446892366 | DIAPH1 | c.1758T>G (p.Pro586=) c.1735T>G (n.1735T>G) c.1626T>G (p.Pro542=) c.1731T>G (p.Pro577=) c.1722T>G (p.Pro574=) c.1692T>G (p.Pro564=) | |
5 | g.141574092A>G | CA446892368 | DIAPH1 | c.1758T>C (p.Pro586=) c.1735T>C (n.1735T>C) c.1626T>C (p.Pro542=) c.1731T>C (p.Pro577=) c.1722T>C (p.Pro574=) c.1692T>C (p.Pro564=) | |
5 | g.141574092A>T | CA446892367 | DIAPH1 | c.1758T>A (p.Pro586=) c.1735T>A (n.1735T>A) c.1626T>A (p.Pro542=) c.1731T>A (p.Pro577=) c.1722T>A (p.Pro574=) c.1692T>A (p.Pro564=) | |
5 | g.141574093G>A | CA361521455 | DIAPH1 | c.1757C>T (p.Pro586Leu) c.1734C>T (n.1734C>T) c.1625C>T (p.Pro542Leu) c.1730C>T (p.Pro577Leu) c.1721C>T (p.Pro574Leu) c.1691C>T (p.Pro564Leu) | ClinVar dbSNP gnomAD v4 |
5 | g.141574093G>C | CA361521460 | DIAPH1 | c.1757C>G (p.Pro586Arg) c.1734C>G (n.1734C>G) c.1625C>G (p.Pro542Arg) c.1730C>G (p.Pro577Arg) c.1721C>G (p.Pro574Arg) c.1691C>G (p.Pro564Arg) | |
5 | g.141574093G= | CA1587248419 | DIAPH1 | c.1757C= (p.Pro586=) c.1734C= (n.1734C=) c.1625C= (p.Pro542=) c.1730C= (p.Pro577=) c.1721C= (p.Pro574=) c.1691C= (p.Pro564=) | |
5 | g.141574093G>T | CA361521457 | DIAPH1 | c.1757C>A (p.Pro586His) c.1734C>A (n.1734C>A) c.1625C>A (p.Pro542His) c.1730C>A (p.Pro577His) c.1721C>A (p.Pro574His) c.1691C>A (p.Pro564His) | COSMIC |
5 | g.141574094G>A | CA3479217 | DIAPH1 | c.1756C>T (p.Pro586Ser) c.1733C>T (n.1733C>T) c.1624C>T (p.Pro542Ser) c.1729C>T (p.Pro577Ser) c.1720C>T (p.Pro574Ser) c.1690C>T (p.Pro564Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.141574094G>C | CA361521468 | DIAPH1 | c.1756C>G (p.Pro586Ala) c.1733C>G (n.1733C>G) c.1624C>G (p.Pro542Ala) c.1729C>G (p.Pro577Ala) c.1720C>G (p.Pro574Ala) c.1690C>G (p.Pro564Ala) | |
5 | g.141574094G= | CA1587248426 | DIAPH1 | c.1756C= (p.Pro586=) c.1733C= (n.1733C=) c.1624C= (p.Pro542=) c.1729C= (p.Pro577=) c.1720C= (p.Pro574=) c.1690C= (p.Pro564=) | |
5 | g.141574094G>T | CA361521471 | DIAPH1 | c.1756C>A (p.Pro586Thr) c.1733C>A (n.1733C>A) c.1624C>A (p.Pro542Thr) c.1729C>A (p.Pro577Thr) c.1720C>A (p.Pro574Thr) c.1690C>A (p.Pro564Thr) | |
5 | g.141574095G>A | CA446892371 | DIAPH1 | c.1755C>T (p.Ala585=) c.1732C>T (n.1732C>T) c.1623C>T (p.Ala541=) c.1728C>T (p.Ala576=) c.1719C>T (p.Ala573=) c.1689C>T (p.Ala563=) | ClinVar dbSNP |
5 | g.141574095G>C | CA446892372 | DIAPH1 | c.1755C>G (p.Ala585=) c.1732C>G (n.1732C>G) c.1623C>G (p.Ala541=) c.1728C>G (p.Ala576=) c.1719C>G (p.Ala573=) c.1689C>G (p.Ala563=) | |
5 | g.141574095G= | CA1587248433 | DIAPH1 | c.1755C= (p.Ala585=) c.1732C= (n.1732C=) c.1623C= (p.Ala541=) c.1728C= (p.Ala576=) c.1719C= (p.Ala573=) c.1689C= (p.Ala563=) | |
5 | g.141574095G>T | CA446892373 | DIAPH1 | c.1755C>A (p.Ala585=) c.1732C>A (n.1732C>A) c.1623C>A (p.Ala541=) c.1728C>A (p.Ala576=) c.1719C>A (p.Ala573=) c.1689C>A (p.Ala563=) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.141574096G>A | CA361521474 | DIAPH1 | c.1754C>T (p.Ala585Val) c.1731C>T (n.1731C>T) c.1622C>T (p.Ala541Val) c.1727C>T (p.Ala576Val) c.1718C>T (p.Ala573Val) c.1688C>T (p.Ala563Val) | |
5 | g.141574096G>C | CA361521477 | DIAPH1 | c.1754C>G (p.Ala585Gly) c.1731C>G (n.1731C>G) c.1622C>G (p.Ala541Gly) c.1727C>G (p.Ala576Gly) c.1718C>G (p.Ala573Gly) c.1688C>G (p.Ala563Gly) | |
5 | g.141574096G>T | CA361521483 | DIAPH1 | c.1754C>A (p.Ala585Asp) c.1731C>A (n.1731C>A) c.1622C>A (p.Ala541Asp) c.1727C>A (p.Ala576Asp) c.1718C>A (p.Ala573Asp) c.1688C>A (p.Ala563Asp) | |
5 | g.141574097C>A | CA361521490 | DIAPH1 | c.1753G>T (p.Ala585Ser) c.1730G>T (n.1730G>T) c.1621G>T (p.Ala541Ser) c.1726G>T (p.Ala576Ser) c.1717G>T (p.Ala573Ser) c.1687G>T (p.Ala563Ser) | gnomAD v4 |
5 | g.141574097C= | CA1587248440 | DIAPH1 | c.1753G= (p.Ala585=) c.1730G= (n.1730G=) c.1621G= (p.Ala541=) c.1726G= (p.Ala576=) c.1717G= (p.Ala573=) c.1687G= (p.Ala563=) | |
5 | g.141574097C>G | CA3479218 | DIAPH1 | c.1753G>C (p.Ala585Pro) c.1730G>C (n.1730G>C) c.1621G>C (p.Ala541Pro) c.1726G>C (p.Ala576Pro) c.1717G>C (p.Ala573Pro) c.1687G>C (p.Ala563Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.141574097C>T | CA361521508 | DIAPH1 | c.1753G>A (p.Ala585Thr) c.1730G>A (n.1730G>A) c.1621G>A (p.Ala541Thr) c.1726G>A (p.Ala576Thr) c.1717G>A (p.Ala573Thr) c.1687G>A (p.Ala563Thr) | gnomAD v4 |
5 | g.141574098del | CA2675691856 | DIAPH1 | c.1752del (p.Ala585ProfsTer?) c.1729del (n.1729del) c.1620del (p.Ala541ProfsTer?) c.1725del (p.Ala576ProfsTer?) c.1716del (p.Ala573ProfsTer?) c.1686del (p.Ala563ProfsTer?) | gnomAD v4 |
5 | g.141574098A>C | CA446892374 | DIAPH1 | c.1752T>G (p.Pro584=) c.1729T>G (n.1729T>G) c.1620T>G (p.Pro540=) c.1725T>G (p.Pro575=) c.1716T>G (p.Pro572=) c.1686T>G (p.Pro562=) | |
5 | g.141574098A>G | CA446892375 | DIAPH1 | c.1752T>C (p.Pro584=) c.1729T>C (n.1729T>C) c.1620T>C (p.Pro540=) c.1725T>C (p.Pro575=) c.1716T>C (p.Pro572=) c.1686T>C (p.Pro562=) | |
5 | g.141574098A>T | CA446892376 | DIAPH1 | c.1752T>A (p.Pro584=) c.1729T>A (n.1729T>A) c.1620T>A (p.Pro540=) c.1725T>A (p.Pro575=) c.1716T>A (p.Pro572=) c.1686T>A (p.Pro562=) | |
5 | g.141574098_141574101delinsAGGG | CA1587248448 | DIAPH1 | c.1749_1752delinsCCCT (p.Pro583=) c.1726_1729delinsCCCT (n.1726_1729delinsCCCT) c.1617_1620delinsCCCT (p.Pro539=) c.1722_1725delinsCCCT (p.Pro574=) c.1713_1716delinsCCCT (p.Pro571=) c.1683_1686delinsCCCT (p.Pro561=) | |
5 | g.141574099G>A | CA361521512 | DIAPH1 | c.1751C>T (p.Pro584Leu) c.1728C>T (n.1728C>T) c.1619C>T (p.Pro540Leu) c.1724C>T (p.Pro575Leu) c.1715C>T (p.Pro572Leu) c.1685C>T (p.Pro562Leu) | gnomAD v4 |
5 | g.141574099G>C | CA361521513 | DIAPH1 | c.1751C>G (p.Pro584Arg) c.1728C>G (n.1728C>G) c.1619C>G (p.Pro540Arg) c.1724C>G (p.Pro575Arg) c.1715C>G (p.Pro572Arg) c.1685C>G (p.Pro562Arg) | |
5 | g.141574099G>T | CA361521518 | DIAPH1 | c.1751C>A (p.Pro584His) c.1728C>A (n.1728C>A) c.1619C>A (p.Pro540His) c.1724C>A (p.Pro575His) c.1715C>A (p.Pro572His) c.1685C>A (p.Pro562His) | |
5 | g.141574103dup | CA2768670741 | DIAPH1 | c.1751dup (p.Ala585CysfsTer7) c.1728dup (n.1728dup) c.1619dup (p.Ala541CysfsTer7) c.1724dup (p.Ala576CysfsTer7) c.1715dup (p.Ala573CysfsTer7) c.1685dup (p.Ala563CysfsTer7) | |
5 | g.141574101_141574103del | CA917596234 | DIAPH1 | c.1749_1751del (p.Pro584del) c.1726_1728del (n.1726_1728del) c.1617_1619del (p.Pro540del) c.1722_1724del (p.Pro575del) c.1713_1715del (p.Pro572del) c.1683_1685del (p.Pro562del) | dbSNP |
5 | g.141574100G>A | CA361521542 | DIAPH1 | c.1750C>T (p.Pro584Ser) c.1727C>T (n.1727C>T) c.1618C>T (p.Pro540Ser) c.1723C>T (p.Pro575Ser) c.1714C>T (p.Pro572Ser) c.1684C>T (p.Pro562Ser) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.141574100G>C | CA361521548 | DIAPH1 | c.1750C>G (p.Pro584Ala) c.1727C>G (n.1727C>G) c.1618C>G (p.Pro540Ala) c.1723C>G (p.Pro575Ala) c.1714C>G (p.Pro572Ala) c.1684C>G (p.Pro562Ala) | dbSNP |
5 | g.141574100G= | CA1587248454 | DIAPH1 | c.1750C= (p.Pro584=) c.1727C= (n.1727C=) c.1618C= (p.Pro540=) c.1723C= (p.Pro575=) c.1714C= (p.Pro572=) c.1684C= (p.Pro562=) | |
5 | g.141574100G>T | CA361521544 | DIAPH1 | c.1750C>A (p.Pro584Thr) c.1727C>A (n.1727C>A) c.1618C>A (p.Pro540Thr) c.1723C>A (p.Pro575Thr) c.1714C>A (p.Pro572Thr) c.1684C>A (p.Pro562Thr) | |
5 | g.141574101G>A | CA446892379 | DIAPH1 | c.1749C>T (p.Pro583=) c.1726C>T (n.1726C>T) c.1617C>T (p.Pro539=) c.1722C>T (p.Pro574=) c.1713C>T (p.Pro571=) c.1683C>T (p.Pro561=) | |
5 | g.141574101G>C | CA446892378 | DIAPH1 | c.1749C>G (p.Pro583=) c.1726C>G (n.1726C>G) c.1617C>G (p.Pro539=) c.1722C>G (p.Pro574=) c.1713C>G (p.Pro571=) c.1683C>G (p.Pro561=) | |
5 | g.141574101G>T | CA446892377 | DIAPH1 | c.1749C>A (p.Pro583=) c.1726C>A (n.1726C>A) c.1617C>A (p.Pro539=) c.1722C>A (p.Pro574=) c.1713C>A (p.Pro571=) c.1683C>A (p.Pro561=) | |
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.141574102G>A | CA361521554 | DIAPH1 | c.1748C>T (p.Pro583Leu) c.1725C>T (n.1725C>T) c.1616C>T (p.Pro539Leu) c.1721C>T (p.Pro574Leu) c.1712C>T (p.Pro571Leu) c.1682C>T (p.Pro561Leu) | gnomAD v4 |
5 | g.141574102G>C | CA3479219 | DIAPH1 | c.1748C>G (p.Pro583Arg) c.1725C>G (n.1725C>G) c.1616C>G (p.Pro539Arg) c.1721C>G (p.Pro574Arg) c.1712C>G (p.Pro571Arg) c.1682C>G (p.Pro561Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.141574102G= | CA1587248462 | DIAPH1 | c.1748C= (p.Pro583=) c.1725C= (n.1725C=) c.1616C= (p.Pro539=) c.1721C= (p.Pro574=) c.1712C= (p.Pro571=) c.1682C= (p.Pro561=) | |
5 | g.141574102G>T | CA361521563 | DIAPH1 | c.1748C>A (p.Pro583His) c.1725C>A (n.1725C>A) c.1616C>A (p.Pro539His) c.1721C>A (p.Pro574His) c.1712C>A (p.Pro571His) c.1682C>A (p.Pro561His) | |
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.141574103G>A | CA361521569 | DIAPH1 | c.1747C>T (p.Pro583Ser) c.1724C>T (n.1724C>T) c.1615C>T (p.Pro539Ser) c.1720C>T (p.Pro574Ser) c.1711C>T (p.Pro571Ser) c.1681C>T (p.Pro561Ser) | gnomAD v4 |
5 | g.141574103G>C | CA361521573 | DIAPH1 | c.1747C>G (p.Pro583Ala) c.1724C>G (n.1724C>G) c.1615C>G (p.Pro539Ala) c.1720C>G (p.Pro574Ala) c.1711C>G (p.Pro571Ala) c.1681C>G (p.Pro561Ala) | |
5 | g.141574103G>T | CA361521577 | DIAPH1 | c.1747C>A (p.Pro583Thr) c.1724C>A (n.1724C>A) c.1615C>A (p.Pro539Thr) c.1720C>A (p.Pro574Thr) c.1711C>A (p.Pro571Thr) c.1681C>A (p.Pro561Thr) | gnomAD v4 |
5 | g.141574104A>C | CA446892380 | DIAPH1 | c.1746T>G (p.Val582=) c.1723T>G (n.1723T>G) c.1614T>G (p.Val538=) c.1719T>G (p.Val573=) c.1710T>G (p.Val570=) c.1680T>G (p.Val560=) | |
5 | g.141574104A>G | CA446892381 | DIAPH1 | c.1746T>C (p.Val582=) c.1723T>C (n.1723T>C) c.1614T>C (p.Val538=) c.1719T>C (p.Val573=) c.1710T>C (p.Val570=) c.1680T>C (p.Val560=) | |
5 | g.141574104A>T | CA446892382 | DIAPH1 | c.1746T>A (p.Val582=) c.1723T>A (n.1723T>A) c.1614T>A (p.Val538=) c.1719T>A (p.Val573=) c.1710T>A (p.Val570=) c.1680T>A (p.Val560=) | |
5 | g.141574105A= | CA1587248467 | DIAPH1 | c.1745T= (p.Val582=) c.1722T= (n.1722T=) c.1613T= (p.Val538=) c.1718T= (p.Val573=) c.1709T= (p.Val570=) c.1679T= (p.Val560=) | |
5 | g.141574105A>C | CA361521582 | DIAPH1 | c.1745T>G (p.Val582Gly) c.1722T>G (n.1722T>G) c.1613T>G (p.Val538Gly) c.1718T>G (p.Val573Gly) c.1709T>G (p.Val570Gly) c.1679T>G (p.Val560Gly) | |
5 | g.141574105A>G | CA361521584 | DIAPH1 | c.1745T>C (p.Val582Ala) c.1722T>C (n.1722T>C) c.1613T>C (p.Val538Ala) c.1718T>C (p.Val573Ala) c.1709T>C (p.Val570Ala) c.1679T>C (p.Val560Ala) | dbSNP |
5 | g.141574105A>T | CA361521596 | DIAPH1 | c.1745T>A (p.Val582Asp) c.1722T>A (n.1722T>A) c.1613T>A (p.Val538Asp) c.1718T>A (p.Val573Asp) c.1709T>A (p.Val570Asp) c.1679T>A (p.Val560Asp) | |
5 | g.141574106C>A | CA361521603 | DIAPH1 | c.1744G>T (p.Val582Phe) c.1721G>T (n.1721G>T) c.1612G>T (p.Val538Phe) c.1717G>T (p.Val573Phe) c.1708G>T (p.Val570Phe) c.1678G>T (p.Val560Phe) | |
5 | g.141574106C= | CA1587248481 | DIAPH1 | c.1744G= (p.Val582=) c.1721G= (n.1721G=) c.1612G= (p.Val538=) c.1717G= (p.Val573=) c.1708G= (p.Val570=) c.1678G= (p.Val560=) | |
5 | g.141574106C>G | CA10619213 | DIAPH1 | c.1744G>C (p.Val582Leu) c.1721G>C (n.1721G>C) c.1612G>C (p.Val538Leu) c.1717G>C (p.Val573Leu) c.1708G>C (p.Val570Leu) c.1678G>C (p.Val560Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.141574106C>T | CA3479220 | DIAPH1 | c.1744G>A (p.Val582Ile) c.1721G>A (n.1721G>A) c.1612G>A (p.Val538Ile) c.1717G>A (p.Val573Ile) c.1708G>A (p.Val570Ile) c.1678G>A (p.Val560Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.141574107A>C | CA446892383 | DIAPH1 | c.1743T>G (p.Pro581=) c.1720T>G (n.1720T>G) c.1611T>G (p.Pro537=) c.1716T>G (p.Pro572=) c.1707T>G (p.Pro569=) c.1677T>G (p.Pro559=) | |
5 | g.141574107A>G | CA446892384 | DIAPH1 | c.1743T>C (p.Pro581=) c.1720T>C (n.1720T>C) c.1611T>C (p.Pro537=) c.1716T>C (p.Pro572=) c.1707T>C (p.Pro569=) c.1677T>C (p.Pro559=) | |
5 | g.141574107A>T | CA446892385 | DIAPH1 | c.1743T>A (p.Pro581=) c.1720T>A (n.1720T>A) c.1611T>A (p.Pro537=) c.1716T>A (p.Pro572=) c.1707T>A (p.Pro569=) c.1677T>A (p.Pro559=) | |
5 | g.141574108G>A | CA361521627 | DIAPH1 | c.1742C>T (p.Pro581Leu) c.1719C>T (n.1719C>T) c.1610C>T (p.Pro537Leu) c.1715C>T (p.Pro572Leu) c.1706C>T (p.Pro569Leu) c.1676C>T (p.Pro559Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.141574108G>C | CA361521623 | DIAPH1 | c.1742C>G (p.Pro581Arg) c.1719C>G (n.1719C>G) c.1610C>G (p.Pro537Arg) c.1715C>G (p.Pro572Arg) c.1706C>G (p.Pro569Arg) c.1676C>G (p.Pro559Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.141574108G= | CA1587248486 | DIAPH1 | c.1742C= (p.Pro581=) c.1719C= (n.1719C=) c.1610C= (p.Pro537=) c.1715C= (p.Pro572=) c.1706C= (p.Pro569=) c.1676C= (p.Pro559=) | |
5 | g.141574108G>T | CA361521620 | DIAPH1 | c.1742C>A (p.Pro581His) c.1719C>A (n.1719C>A) c.1610C>A (p.Pro537His) c.1715C>A (p.Pro572His) c.1706C>A (p.Pro569His) c.1676C>A (p.Pro559His) | |
5 | g.141574109G>A | CA3479221 | DIAPH1 | c.1741C>T (p.Pro581Ser) c.1718C>T (n.1718C>T) c.1609C>T (p.Pro537Ser) c.1714C>T (p.Pro572Ser) c.1705C>T (p.Pro569Ser) c.1675C>T (p.Pro559Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.141574109G>C | CA361521635 | DIAPH1 | c.1741C>G (p.Pro581Ala) c.1718C>G (n.1718C>G) c.1609C>G (p.Pro537Ala) c.1714C>G (p.Pro572Ala) c.1705C>G (p.Pro569Ala) c.1675C>G (p.Pro559Ala) | gnomAD v4 |
5 | g.141574109G= | CA1587248492 | DIAPH1 | c.1741C= (p.Pro581=) c.1718C= (n.1718C=) c.1609C= (p.Pro537=) c.1714C= (p.Pro572=) c.1705C= (p.Pro569=) c.1675C= (p.Pro559=) | |
5 | g.141574109G>T | CA361521640 | DIAPH1 | c.1741C>A (p.Pro581Thr) c.1718C>A (n.1718C>A) c.1609C>A (p.Pro537Thr) c.1714C>A (p.Pro572Thr) c.1705C>A (p.Pro569Thr) c.1675C>A (p.Pro559Thr) | |
5 | g.141574110A>C | CA446892386 | DIAPH1 | c.1740T>G (p.Ala580=) c.1717T>G (n.1717T>G) c.1608T>G (p.Ala536=) c.1713T>G (p.Ala571=) c.1704T>G (p.Ala568=) c.1674T>G (p.Ala558=) | |
5 | g.141574110A>G | CA446892387 | DIAPH1 | c.1740T>C (p.Ala580=) c.1717T>C (n.1717T>C) c.1608T>C (p.Ala536=) c.1713T>C (p.Ala571=) c.1704T>C (p.Ala568=) c.1674T>C (p.Ala558=) | |
5 | g.141574110A>T | CA446892388 | DIAPH1 | c.1740T>A (p.Ala580=) c.1717T>A (n.1717T>A) c.1608T>A (p.Ala536=) c.1713T>A (p.Ala571=) c.1704T>A (p.Ala568=) c.1674T>A (p.Ala558=) | |
5 | g.141574111G>A | CA361521647 | DIAPH1 | c.1739C>T (p.Ala580Val) c.1716C>T (n.1716C>T) c.1607C>T (p.Ala536Val) c.1712C>T (p.Ala571Val) c.1703C>T (p.Ala568Val) c.1673C>T (p.Ala558Val) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.141574111G>C | CA361521649 | DIAPH1 | c.1739C>G (p.Ala580Gly) c.1716C>G (n.1716C>G) c.1607C>G (p.Ala536Gly) c.1712C>G (p.Ala571Gly) c.1703C>G (p.Ala568Gly) c.1673C>G (p.Ala558Gly) | |
5 | g.141574111G= | CA1587248499 | DIAPH1 | c.1739C= (p.Ala580=) c.1716C= (n.1716C=) c.1607C= (p.Ala536=) c.1712C= (p.Ala571=) c.1703C= (p.Ala568=) c.1673C= (p.Ala558=) | |
5 | g.141574111G>T | CA361521652 | DIAPH1 | c.1739C>A (p.Ala580Asp) c.1716C>A (n.1716C>A) c.1607C>A (p.Ala536Asp) c.1712C>A (p.Ala571Asp) c.1703C>A (p.Ala568Asp) c.1673C>A (p.Ala558Asp) | |
5 | g.141574112C>A | CA361521653 | DIAPH1 | c.1738G>T (p.Ala580Ser) c.1715G>T (n.1715G>T) c.1606G>T (p.Ala536Ser) c.1711G>T (p.Ala571Ser) c.1702G>T (p.Ala568Ser) c.1672G>T (p.Ala558Ser) | |
5 | g.141574112C= | CA1587248506 | DIAPH1 | c.1738G= (p.Ala580=) c.1715G= (n.1715G=) c.1606G= (p.Ala536=) c.1711G= (p.Ala571=) c.1702G= (p.Ala568=) c.1672G= (p.Ala558=) | |
5 | g.141574112C>G | CA361521654 | DIAPH1 | c.1738G>C (p.Ala580Pro) c.1715G>C (n.1715G>C) c.1606G>C (p.Ala536Pro) c.1711G>C (p.Ala571Pro) c.1702G>C (p.Ala568Pro) c.1672G>C (p.Ala558Pro) | |
5 | g.141574112C>T | CA361521655 | DIAPH1 | c.1738G>A (p.Ala580Thr) c.1715G>A (n.1715G>A) c.1606G>A (p.Ala536Thr) c.1711G>A (p.Ala571Thr) c.1702G>A (p.Ala568Thr) c.1672G>A (p.Ala558Thr) | dbSNP gnomAD v4 |
5 | g.141574113A= | CA1587248511 | DIAPH1 | c.1737T= (p.Arg579=) c.1714T= (n.1714T=) c.1605T= (p.Arg535=) c.1710T= (p.Arg570=) c.1701T= (p.Arg567=) c.1671T= (p.Arg557=) | |
5 | g.141574113A>C | CA446892389 | DIAPH1 | c.1737T>G (p.Arg579=) c.1714T>G (n.1714T>G) c.1605T>G (p.Arg535=) c.1710T>G (p.Arg570=) c.1701T>G (p.Arg567=) c.1671T>G (p.Arg557=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.141574113A>G | CA446892390 | DIAPH1 | c.1737T>C (p.Arg579=) c.1714T>C (n.1714T>C) c.1605T>C (p.Arg535=) c.1710T>C (p.Arg570=) c.1701T>C (p.Arg567=) c.1671T>C (p.Arg557=) | ClinVar gnomAD v4 |
5 | g.141574113A>T | CA446892391 | DIAPH1 | c.1737T>A (p.Arg579=) c.1714T>A (n.1714T>A) c.1605T>A (p.Arg535=) c.1710T>A (p.Arg570=) c.1701T>A (p.Arg567=) c.1671T>A (p.Arg557=) | |
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 |