Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.50242250G>A | CA2628396172 | HDC | c.*10C>T (n.*10C>T) n.1743C>T | gnomAD v4 |
15 | g.50242251G>A | CA2176326508 | HDC | c.*9C>T (n.*9C>T) n.1742C>T | dbSNP |
15 | g.50242251G= | CA2176326507 | HDC | c.*9C= (n.*9C=) n.1742C= | |
15 | g.50242251G>T | CA2628396174 | HDC | c.*9C>A (n.*9C>A) n.1742C>A | gnomAD v4 |
15 | g.50242251_50242252delinsGC | CA2176326506 | HDC | c.*8_*9delinsGC (n.*8_*9delinsGC) n.1741_1742delinsGC | |
15 | g.50242254del | CA2176326509 | HDC | c.*8del (n.*8del) n.1741del | dbSNP gnomAD v4 |
15 | g.50242253C>A | CA2575721864 | HDC | c.*7G>T (n.*7G>T) n.1740G>T | |
15 | g.50242253C= | CA2176326510 | HDC | c.*7G= (n.*7G=) n.1740G= | |
15 | g.50242253C>T | CA7554456 | HDC | c.*7G>A (n.*7G>A) n.1740G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.50242254C= | CA2176326511 | HDC | c.*6G= (n.*6G=) n.1739G= | |
15 | g.50242254C>G | CA617860197 | HDC | c.*6G>C (n.*6G>C) n.1739G>C | dbSNP gnomAD v2 gnomAD v4 |
15 | g.50242254C>T | CA2176326512 | HDC | c.*6G>A (n.*6G>A) n.1739G>A | dbSNP gnomAD v4 |
15 | g.50242255T>C | CA7554457 | HDC | c.*5A>G (n.*5A>G) n.1738A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.50242255T= | CA2176326513 | HDC | c.*5A= (n.*5A=) n.1738A= | |
15 | g.50242256G>A | CA2628396177 | HDC | c.*4C>T (n.*4C>T) n.1737C>T | gnomAD v4 |
15 | g.50242256G>T | CA2575721865 | HDC | c.*4C>A (n.*4C>A) n.1737C>A | |
15 | g.50242257T>A | CA2581216875 | HDC | c.*3A>T (n.*3A>T) n.1736A>T | |
15 | g.50242257T>C | CA2581216876 | HDC | c.*3A>G (n.*3A>G) n.1736A>G | gnomAD v4 |
15 | g.50242257T>G | CA7554458 | HDC | c.*3A>C (n.*3A>C) n.1736A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.50242257T= | CA2176326514 | HDC | c.*3A= (n.*3A=) n.1736A= | |
15 | g.50242258G>C | CA2575721866 | HDC | c.*2C>G (n.*2C>G) n.1735C>G | gnomAD v4 |
15 | g.50242260C>A | CA392376379 | HDC | c.1989G>T (p.Ter663Tyr) c.1890G>T (p.Ter630Tyr) n.1733G>T c.1752G>T (p.Ter584Tyr) c.1557G>T (p.Ter519Tyr) c.2094G>T (p.Ter698Tyr) c.1995G>T (p.Ter665Tyr) c.1866G>T (p.Ter622Tyr) c.1857G>T (p.Ter619Tyr) c.1662G>T (p.Ter554Tyr) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.50242260C= | CA2176326515 | HDC | c.1989G= (p.Ter663=) c.1890G= (p.Ter630=) n.1733G= c.1752G= (p.Ter584=) c.1557G= (p.Ter519=) c.2094G= (p.Ter698=) c.1995G= (p.Ter665=) c.1866G= (p.Ter622=) c.1857G= (p.Ter619=) c.1662G= (p.Ter554=) | |
15 | g.50242260C>G | CA392376380 | HDC | c.1989G>C (p.Ter663Tyr) c.1890G>C (p.Ter630Tyr) n.1733G>C c.1752G>C (p.Ter584Tyr) c.1557G>C (p.Ter519Tyr) c.2094G>C (p.Ter698Tyr) c.1995G>C (p.Ter665Tyr) c.1866G>C (p.Ter622Tyr) c.1857G>C (p.Ter619Tyr) c.1662G>C (p.Ter554Tyr) | |
15 | g.50242260C>T | CA490064093 | HDC | c.1989G>A (p.Ter663=) c.1890G>A (p.Ter630=) n.1733G>A c.1752G>A (p.Ter584=) c.1557G>A (p.Ter519=) c.2094G>A (p.Ter698=) c.1995G>A (p.Ter665=) c.1866G>A (p.Ter622=) c.1857G>A (p.Ter619=) c.1662G>A (p.Ter554=) | |
15 | g.50242261T>A | CA392376381 | HDC | c.1988A>T (p.Ter663Leu) c.1889A>T (p.Ter630Leu) n.1732A>T c.1751A>T (p.Ter584Leu) c.1556A>T (p.Ter519Leu) c.2093A>T (p.Ter698Leu) c.1994A>T (p.Ter665Leu) c.1865A>T (p.Ter622Leu) c.1856A>T (p.Ter619Leu) c.1661A>T (p.Ter554Leu) | |
15 | g.50242261T>C | CA392376382 | HDC | c.1988A>G (p.Ter663Trp) c.1889A>G (p.Ter630Trp) n.1732A>G c.1751A>G (p.Ter584Trp) c.1556A>G (p.Ter519Trp) c.2093A>G (p.Ter698Trp) c.1994A>G (p.Ter665Trp) c.1865A>G (p.Ter622Trp) c.1856A>G (p.Ter619Trp) c.1661A>G (p.Ter554Trp) | |
15 | g.50242261T>G | CA392376383 | HDC | c.1988A>C (p.Ter663Ser) c.1889A>C (p.Ter630Ser) n.1732A>C c.1751A>C (p.Ter584Ser) c.1556A>C (p.Ter519Ser) c.2093A>C (p.Ter698Ser) c.1994A>C (p.Ter665Ser) c.1865A>C (p.Ter622Ser) c.1856A>C (p.Ter619Ser) c.1661A>C (p.Ter554Ser) | |
15 | g.50242262A>C | CA392376385 | HDC | c.1987T>G (p.Ter663Glu) c.1888T>G (p.Ter630Glu) n.1731T>G c.1750T>G (p.Ter584Glu) c.1555T>G (p.Ter519Glu) c.2092T>G (p.Ter698Glu) c.1993T>G (p.Ter665Glu) c.1864T>G (p.Ter622Glu) c.1855T>G (p.Ter619Glu) c.1660T>G (p.Ter554Glu) | |
15 | g.50242262A>G | CA392376386 | HDC | c.1987T>C (p.Ter663Gln) c.1888T>C (p.Ter630Gln) n.1731T>C c.1750T>C (p.Ter584Gln) c.1555T>C (p.Ter519Gln) c.2092T>C (p.Ter698Gln) c.1993T>C (p.Ter665Gln) c.1864T>C (p.Ter622Gln) c.1855T>C (p.Ter619Gln) c.1660T>C (p.Ter554Gln) | |
15 | g.50242262A>T | CA392376384 | HDC | c.1987T>A (p.Ter663Lys) c.1888T>A (p.Ter630Lys) n.1731T>A c.1750T>A (p.Ter584Lys) c.1555T>A (p.Ter519Lys) c.2092T>A (p.Ter698Lys) c.1993T>A (p.Ter665Lys) c.1864T>A (p.Ter622Lys) c.1855T>A (p.Ter619Lys) c.1660T>A (p.Ter554Lys) | |
15 | g.50242264del | CA2575721867 | HDC | c.1987del (p.Ter663ArgextTer?) c.1888del (p.Ter630ArgextTer?) n.1731del c.1750del (p.Ter584ArgextTer?) c.1555del (p.Ter519ArgextTer?) c.2092del (p.Ter698ArgextTer?) c.1993del (p.Ter665ArgextTer?) c.1864del (p.Ter622ArgextTer?) c.1855del (p.Ter619ArgextTer?) c.1660del (p.Ter554ArgextTer?) | |
15 | g.50242263A>C | CA490064094 | HDC | c.1986T>G (p.Val662=) c.1887T>G (p.Val629=) n.1730T>G c.1749T>G (p.Val583=) c.1554T>G (p.Val518=) c.2091T>G (p.Val697=) c.1992T>G (p.Val664=) c.1863T>G (p.Val621=) c.1854T>G (p.Val618=) c.1659T>G (p.Val553=) | |
15 | g.50242263A>G | CA490064095 | HDC | c.1986T>C (p.Val662=) c.1887T>C (p.Val629=) n.1730T>C c.1749T>C (p.Val583=) c.1554T>C (p.Val518=) c.2091T>C (p.Val697=) c.1992T>C (p.Val664=) c.1863T>C (p.Val621=) c.1854T>C (p.Val618=) c.1659T>C (p.Val553=) | |
15 | g.50242263A>T | CA490064096 | HDC | c.1986T>A (p.Val662=) c.1887T>A (p.Val629=) n.1730T>A c.1749T>A (p.Val583=) c.1554T>A (p.Val518=) c.2091T>A (p.Val697=) c.1992T>A (p.Val664=) c.1863T>A (p.Val621=) c.1854T>A (p.Val618=) c.1659T>A (p.Val553=) | |
15 | g.50242264A= | CA2176326516 | HDC | c.1985T= (p.Val662=) c.1886T= (p.Val629=) n.1729T= c.1748T= (p.Val583=) c.1553T= (p.Val518=) c.2090T= (p.Val697=) c.1991T= (p.Val664=) c.1862T= (p.Val621=) c.1853T= (p.Val618=) c.1658T= (p.Val553=) | |
15 | g.50242264A>C | CA7554459 | HDC | c.1985T>G (p.Val662Gly) c.1886T>G (p.Val629Gly) n.1729T>G c.1748T>G (p.Val583Gly) c.1553T>G (p.Val518Gly) c.2090T>G (p.Val697Gly) c.1991T>G (p.Val664Gly) c.1862T>G (p.Val621Gly) c.1853T>G (p.Val618Gly) c.1658T>G (p.Val553Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.50242264A>G | CA392376387 | HDC | c.1985T>C (p.Val662Ala) c.1886T>C (p.Val629Ala) n.1729T>C c.1748T>C (p.Val583Ala) c.1553T>C (p.Val518Ala) c.2090T>C (p.Val697Ala) c.1991T>C (p.Val664Ala) c.1862T>C (p.Val621Ala) c.1853T>C (p.Val618Ala) c.1658T>C (p.Val553Ala) | |
15 | g.50242264A>T | CA392376388 | HDC | c.1985T>A (p.Val662Asp) c.1886T>A (p.Val629Asp) n.1729T>A c.1748T>A (p.Val583Asp) c.1553T>A (p.Val518Asp) c.2090T>A (p.Val697Asp) c.1991T>A (p.Val664Asp) c.1862T>A (p.Val621Asp) c.1853T>A (p.Val618Asp) c.1658T>A (p.Val553Asp) | |
15 | g.50242265C>A | CA392376389 | HDC | c.1984G>T (p.Val662Phe) c.1885G>T (p.Val629Phe) n.1728G>T c.1747G>T (p.Val583Phe) c.1552G>T (p.Val518Phe) c.2089G>T (p.Val697Phe) c.1990G>T (p.Val664Phe) c.1861G>T (p.Val621Phe) c.1852G>T (p.Val618Phe) c.1657G>T (p.Val553Phe) | gnomAD v4 |
15 | g.50242265C= | CA2176326517 | HDC | c.1984G= (p.Val662=) c.1885G= (p.Val629=) n.1728G= c.1747G= (p.Val583=) c.1552G= (p.Val518=) c.2089G= (p.Val697=) c.1990G= (p.Val664=) c.1861G= (p.Val621=) c.1852G= (p.Val618=) c.1657G= (p.Val553=) | |
15 | g.50242265C>G | CA392376390 | HDC | c.1984G>C (p.Val662Leu) c.1885G>C (p.Val629Leu) n.1728G>C c.1747G>C (p.Val583Leu) c.1552G>C (p.Val518Leu) c.2089G>C (p.Val697Leu) c.1990G>C (p.Val664Leu) c.1861G>C (p.Val621Leu) c.1852G>C (p.Val618Leu) c.1657G>C (p.Val553Leu) | |
15 | g.50242265C>T | CA392376391 | HDC | c.1984G>A (p.Val662Ile) c.1885G>A (p.Val629Ile) n.1728G>A c.1747G>A (p.Val583Ile) c.1552G>A (p.Val518Ile) c.2089G>A (p.Val697Ile) c.1990G>A (p.Val664Ile) c.1861G>A (p.Val621Ile) c.1852G>A (p.Val618Ile) c.1657G>A (p.Val553Ile) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.50242266C>A | CA392376392 | HDC | c.1983G>T (p.Met661Ile) c.1884G>T (p.Met628Ile) n.1727G>T c.1746G>T (p.Met582Ile) c.1551G>T (p.Met517Ile) c.2088G>T (p.Met696Ile) c.1989G>T (p.Met663Ile) c.1860G>T (p.Met620Ile) c.1851G>T (p.Met617Ile) c.1656G>T (p.Met552Ile) | |
15 | g.50242266C>G | CA392376393 | HDC | c.1983G>C (p.Met661Ile) c.1884G>C (p.Met628Ile) n.1727G>C c.1746G>C (p.Met582Ile) c.1551G>C (p.Met517Ile) c.2088G>C (p.Met696Ile) c.1989G>C (p.Met663Ile) c.1860G>C (p.Met620Ile) c.1851G>C (p.Met617Ile) c.1656G>C (p.Met552Ile) | |
15 | g.50242266C>T | CA392376394 | HDC | c.1983G>A (p.Met661Ile) c.1884G>A (p.Met628Ile) n.1727G>A c.1746G>A (p.Met582Ile) c.1551G>A (p.Met517Ile) c.2088G>A (p.Met696Ile) c.1989G>A (p.Met663Ile) c.1860G>A (p.Met620Ile) c.1851G>A (p.Met617Ile) c.1656G>A (p.Met552Ile) | |
15 | g.50242267A= | CA2176326518 | HDC | c.1982T= (p.Met661=) c.1883T= (p.Met628=) n.1726T= c.1745T= (p.Met582=) c.1550T= (p.Met517=) c.2087T= (p.Met696=) c.1988T= (p.Met663=) c.1859T= (p.Met620=) c.1850T= (p.Met617=) c.1655T= (p.Met552=) | |
15 | g.50242267A>C | CA392376395 | HDC | c.1982T>G (p.Met661Arg) c.1883T>G (p.Met628Arg) n.1726T>G c.1745T>G (p.Met582Arg) c.1550T>G (p.Met517Arg) c.2087T>G (p.Met696Arg) c.1988T>G (p.Met663Arg) c.1859T>G (p.Met620Arg) c.1850T>G (p.Met617Arg) c.1655T>G (p.Met552Arg) | |
15 | g.50242267A>G | CA392376396 | HDC | c.1982T>C (p.Met661Thr) c.1883T>C (p.Met628Thr) n.1726T>C c.1745T>C (p.Met582Thr) c.1550T>C (p.Met517Thr) c.2087T>C (p.Met696Thr) c.1988T>C (p.Met663Thr) c.1859T>C (p.Met620Thr) c.1850T>C (p.Met617Thr) c.1655T>C (p.Met552Thr) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.50242267A>T | CA392376397 | HDC | c.1982T>A (p.Met661Lys) c.1883T>A (p.Met628Lys) n.1726T>A c.1745T>A (p.Met582Lys) c.1550T>A (p.Met517Lys) c.2087T>A (p.Met696Lys) c.1988T>A (p.Met663Lys) c.1859T>A (p.Met620Lys) c.1850T>A (p.Met617Lys) c.1655T>A (p.Met552Lys) | |
15 | g.50242268T>A | CA392376398 | HDC | c.1981A>T (p.Met661Leu) c.1882A>T (p.Met628Leu) n.1725A>T c.1744A>T (p.Met582Leu) c.1549A>T (p.Met517Leu) c.2086A>T (p.Met696Leu) c.1987A>T (p.Met663Leu) c.1858A>T (p.Met620Leu) c.1849A>T (p.Met617Leu) c.1654A>T (p.Met552Leu) | |
15 | g.50242268T>C | CA392376399 | HDC | c.1981A>G (p.Met661Val) c.1882A>G (p.Met628Val) n.1725A>G c.1744A>G (p.Met582Val) c.1549A>G (p.Met517Val) c.2086A>G (p.Met696Val) c.1987A>G (p.Met663Val) c.1858A>G (p.Met620Val) c.1849A>G (p.Met617Val) c.1654A>G (p.Met552Val) | dbSNP |
15 | g.50242268T>G | CA392376400 | HDC | c.1981A>C (p.Met661Leu) c.1882A>C (p.Met628Leu) n.1725A>C c.1744A>C (p.Met582Leu) c.1549A>C (p.Met517Leu) c.2086A>C (p.Met696Leu) c.1987A>C (p.Met663Leu) c.1858A>C (p.Met620Leu) c.1849A>C (p.Met617Leu) c.1654A>C (p.Met552Leu) | |
15 | g.50242268T= | CA2176326519 | HDC | c.1981A= (p.Met661=) c.1882A= (p.Met628=) n.1725A= c.1744A= (p.Met582=) c.1549A= (p.Met517=) c.2086A= (p.Met696=) c.1987A= (p.Met663=) c.1858A= (p.Met620=) c.1849A= (p.Met617=) c.1654A= (p.Met552=) | |
15 | g.50242269G>A | CA490064097 | HDC | c.1980C>T (p.Ala660=) c.1881C>T (p.Ala627=) n.1724C>T c.1743C>T (p.Ala581=) c.1548C>T (p.Ala516=) c.2085C>T (p.Ala695=) c.1986C>T (p.Ala662=) c.1857C>T (p.Ala619=) c.1848C>T (p.Ala616=) c.1653C>T (p.Ala551=) | |
15 | g.50242269G>C | CA490064098 | HDC | c.1980C>G (p.Ala660=) c.1881C>G (p.Ala627=) n.1724C>G c.1743C>G (p.Ala581=) c.1548C>G (p.Ala516=) c.2085C>G (p.Ala695=) c.1986C>G (p.Ala662=) c.1857C>G (p.Ala619=) c.1848C>G (p.Ala616=) c.1653C>G (p.Ala551=) | |
15 | g.50242269G>T | CA490064099 | HDC | c.1980C>A (p.Ala660=) c.1881C>A (p.Ala627=) n.1724C>A c.1743C>A (p.Ala581=) c.1548C>A (p.Ala516=) c.2085C>A (p.Ala695=) c.1986C>A (p.Ala662=) c.1857C>A (p.Ala619=) c.1848C>A (p.Ala616=) c.1653C>A (p.Ala551=) | |
15 | g.50242270G>A | CA392376403 | HDC | c.1979C>T (p.Ala660Val) c.1880C>T (p.Ala627Val) n.1723C>T c.1742C>T (p.Ala581Val) c.1547C>T (p.Ala516Val) c.2084C>T (p.Ala695Val) c.1985C>T (p.Ala662Val) c.1856C>T (p.Ala619Val) c.1847C>T (p.Ala616Val) c.1652C>T (p.Ala551Val) | |
15 | g.50242270G>C | CA392376401 | HDC | c.1979C>G (p.Ala660Gly) c.1880C>G (p.Ala627Gly) n.1723C>G c.1742C>G (p.Ala581Gly) c.1547C>G (p.Ala516Gly) c.2084C>G (p.Ala695Gly) c.1985C>G (p.Ala662Gly) c.1856C>G (p.Ala619Gly) c.1847C>G (p.Ala616Gly) c.1652C>G (p.Ala551Gly) | |
15 | g.50242270G>T | CA392376402 | HDC | c.1979C>A (p.Ala660Asp) c.1880C>A (p.Ala627Asp) n.1723C>A c.1742C>A (p.Ala581Asp) c.1547C>A (p.Ala516Asp) c.2084C>A (p.Ala695Asp) c.1985C>A (p.Ala662Asp) c.1856C>A (p.Ala619Asp) c.1847C>A (p.Ala616Asp) c.1652C>A (p.Ala551Asp) | |
15 | g.50242271C>A | CA392376404 | HDC | c.1978G>T (p.Ala660Ser) c.1879G>T (p.Ala627Ser) n.1722G>T c.1741G>T (p.Ala581Ser) c.1546G>T (p.Ala516Ser) c.2083G>T (p.Ala695Ser) c.1984G>T (p.Ala662Ser) c.1855G>T (p.Ala619Ser) c.1846G>T (p.Ala616Ser) c.1651G>T (p.Ala551Ser) | |
15 | g.50242271C= | CA2176326520 | HDC | c.1978G= (p.Ala660=) c.1879G= (p.Ala627=) n.1722G= c.1741G= (p.Ala581=) c.1546G= (p.Ala516=) c.2083G= (p.Ala695=) c.1984G= (p.Ala662=) c.1855G= (p.Ala619=) c.1846G= (p.Ala616=) c.1651G= (p.Ala551=) | |
15 | g.50242271C>G | CA392376405 | HDC | c.1978G>C (p.Ala660Pro) c.1879G>C (p.Ala627Pro) n.1722G>C c.1741G>C (p.Ala581Pro) c.1546G>C (p.Ala516Pro) c.2083G>C (p.Ala695Pro) c.1984G>C (p.Ala662Pro) c.1855G>C (p.Ala619Pro) c.1846G>C (p.Ala616Pro) c.1651G>C (p.Ala551Pro) | |
15 | g.50242271C>T | CA7554460 | HDC | c.1978G>A (p.Ala660Thr) c.1879G>A (p.Ala627Thr) n.1722G>A c.1741G>A (p.Ala581Thr) c.1546G>A (p.Ala516Thr) c.2083G>A (p.Ala695Thr) c.1984G>A (p.Ala662Thr) c.1855G>A (p.Ala619Thr) c.1846G>A (p.Ala616Thr) c.1651G>A (p.Ala551Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.50242272C>A | CA392376406 | HDC | c.1977G>T (p.Gln659His) c.1878G>T (p.Gln626His) n.1721G>T c.1740G>T (p.Gln580His) c.1545G>T (p.Gln515His) c.2082G>T (p.Gln694His) c.1983G>T (p.Gln661His) c.1854G>T (p.Gln618His) c.1845G>T (p.Gln615His) c.1650G>T (p.Gln550His) | |
15 | g.50242272C>G | CA392376407 | HDC | c.1977G>C (p.Gln659His) c.1878G>C (p.Gln626His) n.1721G>C c.1740G>C (p.Gln580His) c.1545G>C (p.Gln515His) c.2082G>C (p.Gln694His) c.1983G>C (p.Gln661His) c.1854G>C (p.Gln618His) c.1845G>C (p.Gln615His) c.1650G>C (p.Gln550His) | |
15 | g.50242272C>T | CA490064100 | HDC | c.1977G>A (p.Gln659=) c.1878G>A (p.Gln626=) n.1721G>A c.1740G>A (p.Gln580=) c.1545G>A (p.Gln515=) c.2082G>A (p.Gln694=) c.1983G>A (p.Gln661=) c.1854G>A (p.Gln618=) c.1845G>A (p.Gln615=) c.1650G>A (p.Gln550=) | gnomAD v4 |
15 | g.50242273T>A | CA392376408 | HDC | c.1976A>T (p.Gln659Leu) c.1877A>T (p.Gln626Leu) n.1720A>T c.1739A>T (p.Gln580Leu) c.1544A>T (p.Gln515Leu) c.2081A>T (p.Gln694Leu) c.1982A>T (p.Gln661Leu) c.1853A>T (p.Gln618Leu) c.1844A>T (p.Gln615Leu) c.1649A>T (p.Gln550Leu) | |
15 | g.50242273T>C | CA392376409 | HDC | c.1976A>G (p.Gln659Arg) c.1877A>G (p.Gln626Arg) n.1720A>G c.1739A>G (p.Gln580Arg) c.1544A>G (p.Gln515Arg) c.2081A>G (p.Gln694Arg) c.1982A>G (p.Gln661Arg) c.1853A>G (p.Gln618Arg) c.1844A>G (p.Gln615Arg) c.1649A>G (p.Gln550Arg) | |
15 | g.50242273T>G | CA392376410 | HDC | c.1976A>C (p.Gln659Pro) c.1877A>C (p.Gln626Pro) n.1720A>C c.1739A>C (p.Gln580Pro) c.1544A>C (p.Gln515Pro) c.2081A>C (p.Gln694Pro) c.1982A>C (p.Gln661Pro) c.1853A>C (p.Gln618Pro) c.1844A>C (p.Gln615Pro) c.1649A>C (p.Gln550Pro) | |
15 | g.50242274G>A | CA392376411 | HDC | c.1975C>T (p.Gln659Ter) c.1876C>T (p.Gln626Ter) n.1719C>T c.1738C>T (p.Gln580Ter) c.1543C>T (p.Gln515Ter) c.2080C>T (p.Gln694Ter) c.1981C>T (p.Gln661Ter) c.1852C>T (p.Gln618Ter) c.1843C>T (p.Gln615Ter) c.1648C>T (p.Gln550Ter) | |
15 | g.50242274G>C | CA392376412 | HDC | c.1975C>G (p.Gln659Glu) c.1876C>G (p.Gln626Glu) n.1719C>G c.1738C>G (p.Gln580Glu) c.1543C>G (p.Gln515Glu) c.2080C>G (p.Gln694Glu) c.1981C>G (p.Gln661Glu) c.1852C>G (p.Gln618Glu) c.1843C>G (p.Gln615Glu) c.1648C>G (p.Gln550Glu) | gnomAD v4 |
15 | g.50242274G>T | CA392376413 | HDC | c.1975C>A (p.Gln659Lys) c.1876C>A (p.Gln626Lys) n.1719C>A c.1738C>A (p.Gln580Lys) c.1543C>A (p.Gln515Lys) c.2080C>A (p.Gln694Lys) c.1981C>A (p.Gln661Lys) c.1852C>A (p.Gln618Lys) c.1843C>A (p.Gln615Lys) c.1648C>A (p.Gln550Lys) | gnomAD v4 |
15 | g.50242275C>A | CA490064101 | HDC | c.1974G>T (p.Leu658=) c.1875G>T (p.Leu625=) n.1718G>T c.1737G>T (p.Leu579=) c.1542G>T (p.Leu514=) c.2079G>T (p.Leu693=) c.1980G>T (p.Leu660=) c.1851G>T (p.Leu617=) c.1842G>T (p.Leu614=) c.1647G>T (p.Leu549=) | |
15 | g.50242275C>G | CA490064102 | HDC | c.1974G>C (p.Leu658=) c.1875G>C (p.Leu625=) n.1718G>C c.1737G>C (p.Leu579=) c.1542G>C (p.Leu514=) c.2079G>C (p.Leu693=) c.1980G>C (p.Leu660=) c.1851G>C (p.Leu617=) c.1842G>C (p.Leu614=) c.1647G>C (p.Leu549=) | |
15 | g.50242275C>T | CA490064103 | HDC | c.1974G>A (p.Leu658=) c.1875G>A (p.Leu625=) n.1718G>A c.1737G>A (p.Leu579=) c.1542G>A (p.Leu514=) c.2079G>A (p.Leu693=) c.1980G>A (p.Leu660=) c.1851G>A (p.Leu617=) c.1842G>A (p.Leu614=) c.1647G>A (p.Leu549=) | |
15 | g.50242276A>C | CA392376416 | HDC | c.1973T>G (p.Leu658Arg) c.1874T>G (p.Leu625Arg) n.1717T>G c.1736T>G (p.Leu579Arg) c.1541T>G (p.Leu514Arg) c.2078T>G (p.Leu693Arg) c.1979T>G (p.Leu660Arg) c.1850T>G (p.Leu617Arg) c.1841T>G (p.Leu614Arg) c.1646T>G (p.Leu549Arg) | |
15 | g.50242276A>G | CA392376415 | HDC | c.1973T>C (p.Leu658Pro) c.1874T>C (p.Leu625Pro) n.1717T>C c.1736T>C (p.Leu579Pro) c.1541T>C (p.Leu514Pro) c.2078T>C (p.Leu693Pro) c.1979T>C (p.Leu660Pro) c.1850T>C (p.Leu617Pro) c.1841T>C (p.Leu614Pro) c.1646T>C (p.Leu549Pro) | |
15 | g.50242276A>T | CA392376414 | HDC | c.1973T>A (p.Leu658Gln) c.1874T>A (p.Leu625Gln) n.1717T>A c.1736T>A (p.Leu579Gln) c.1541T>A (p.Leu514Gln) c.2078T>A (p.Leu693Gln) c.1979T>A (p.Leu660Gln) c.1850T>A (p.Leu617Gln) c.1841T>A (p.Leu614Gln) c.1646T>A (p.Leu549Gln) | |
15 | g.50242277G>A | CA490064104 | HDC | c.1972C>T (p.Leu658=) c.1873C>T (p.Leu625=) n.1716C>T c.1735C>T (p.Leu579=) c.1540C>T (p.Leu514=) c.2077C>T (p.Leu693=) c.1978C>T (p.Leu660=) c.1849C>T (p.Leu617=) c.1840C>T (p.Leu614=) c.1645C>T (p.Leu549=) | |
15 | g.50242277G>C | CA392376417 | HDC | c.1972C>G (p.Leu658Val) c.1873C>G (p.Leu625Val) n.1716C>G c.1735C>G (p.Leu579Val) c.1540C>G (p.Leu514Val) c.2077C>G (p.Leu693Val) c.1978C>G (p.Leu660Val) c.1849C>G (p.Leu617Val) c.1840C>G (p.Leu614Val) c.1645C>G (p.Leu549Val) | |
15 | g.50242277G= | CA2176326521 | HDC | c.1972C= (p.Leu658=) c.1873C= (p.Leu625=) n.1716C= c.1735C= (p.Leu579=) c.1540C= (p.Leu514=) c.2077C= (p.Leu693=) c.1978C= (p.Leu660=) c.1849C= (p.Leu617=) c.1840C= (p.Leu614=) c.1645C= (p.Leu549=) | |
15 | g.50242277G>T | CA392376418 | HDC | c.1972C>A (p.Leu658Met) c.1873C>A (p.Leu625Met) n.1716C>A c.1735C>A (p.Leu579Met) c.1540C>A (p.Leu514Met) c.2077C>A (p.Leu693Met) c.1978C>A (p.Leu660Met) c.1849C>A (p.Leu617Met) c.1840C>A (p.Leu614Met) c.1645C>A (p.Leu549Met) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.50242278A>C | CA490064105 | HDC | c.1971T>G (p.Pro657=) c.1872T>G (p.Pro624=) n.1715T>G c.1734T>G (p.Pro578=) c.1539T>G (p.Pro513=) c.2076T>G (p.Pro692=) c.1977T>G (p.Pro659=) c.1848T>G (p.Pro616=) c.1839T>G (p.Pro613=) c.1644T>G (p.Pro548=) | |
15 | g.50242278A>G | CA490064107 | HDC | c.1971T>C (p.Pro657=) c.1872T>C (p.Pro624=) n.1715T>C c.1734T>C (p.Pro578=) c.1539T>C (p.Pro513=) c.2076T>C (p.Pro692=) c.1977T>C (p.Pro659=) c.1848T>C (p.Pro616=) c.1839T>C (p.Pro613=) c.1644T>C (p.Pro548=) | |
15 | g.50242278A>T | CA490064106 | HDC | c.1971T>A (p.Pro657=) c.1872T>A (p.Pro624=) n.1715T>A c.1734T>A (p.Pro578=) c.1539T>A (p.Pro513=) c.2076T>A (p.Pro692=) c.1977T>A (p.Pro659=) c.1848T>A (p.Pro616=) c.1839T>A (p.Pro613=) c.1644T>A (p.Pro548=) | gnomAD v4 |
15 | g.50242279G>A | CA392376419 | HDC | c.1970C>T (p.Pro657Leu) c.1871C>T (p.Pro624Leu) n.1714C>T c.1733C>T (p.Pro578Leu) c.1538C>T (p.Pro513Leu) c.2075C>T (p.Pro692Leu) c.1976C>T (p.Pro659Leu) c.1847C>T (p.Pro616Leu) c.1838C>T (p.Pro613Leu) c.1643C>T (p.Pro548Leu) | gnomAD v4 |
15 | g.50242279G>C | CA392376420 | HDC | c.1970C>G (p.Pro657Arg) c.1871C>G (p.Pro624Arg) n.1714C>G c.1733C>G (p.Pro578Arg) c.1538C>G (p.Pro513Arg) c.2075C>G (p.Pro692Arg) c.1976C>G (p.Pro659Arg) c.1847C>G (p.Pro616Arg) c.1838C>G (p.Pro613Arg) c.1643C>G (p.Pro548Arg) | |
15 | g.50242279G= | CA2176326522 | HDC | c.1970C= (p.Pro657=) c.1871C= (p.Pro624=) n.1714C= c.1733C= (p.Pro578=) c.1538C= (p.Pro513=) c.2075C= (p.Pro692=) c.1976C= (p.Pro659=) c.1847C= (p.Pro616=) c.1838C= (p.Pro613=) c.1643C= (p.Pro548=) | |
15 | g.50242279G>T | CA7554461 | HDC | c.1970C>A (p.Pro657His) c.1871C>A (p.Pro624His) n.1714C>A c.1733C>A (p.Pro578His) c.1538C>A (p.Pro513His) c.2075C>A (p.Pro692His) c.1976C>A (p.Pro659His) c.1847C>A (p.Pro616His) c.1838C>A (p.Pro613His) c.1643C>A (p.Pro548His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.50242280G>A | CA392376421 | HDC | c.1969C>T (p.Pro657Ser) c.1870C>T (p.Pro624Ser) n.1713C>T c.1732C>T (p.Pro578Ser) c.1537C>T (p.Pro513Ser) c.2074C>T (p.Pro692Ser) c.1975C>T (p.Pro659Ser) c.1846C>T (p.Pro616Ser) c.1837C>T (p.Pro613Ser) c.1642C>T (p.Pro548Ser) | |
15 | g.50242280G>C | CA392376422 | HDC | c.1969C>G (p.Pro657Ala) c.1870C>G (p.Pro624Ala) n.1713C>G c.1732C>G (p.Pro578Ala) c.1537C>G (p.Pro513Ala) c.2074C>G (p.Pro692Ala) c.1975C>G (p.Pro659Ala) c.1846C>G (p.Pro616Ala) c.1837C>G (p.Pro613Ala) c.1642C>G (p.Pro548Ala) | |
15 | g.50242280G>T | CA392376423 | HDC | c.1969C>A (p.Pro657Thr) c.1870C>A (p.Pro624Thr) n.1713C>A c.1732C>A (p.Pro578Thr) c.1537C>A (p.Pro513Thr) c.2074C>A (p.Pro692Thr) c.1975C>A (p.Pro659Thr) c.1846C>A (p.Pro616Thr) c.1837C>A (p.Pro613Thr) c.1642C>A (p.Pro548Thr) | |
15 | g.50242281G>A | CA490064108 | HDC | c.1968C>T (p.Cys656=) c.1869C>T (p.Cys623=) n.1712C>T c.1731C>T (p.Cys577=) c.1536C>T (p.Cys512=) c.2073C>T (p.Cys691=) c.1974C>T (p.Cys658=) c.1845C>T (p.Cys615=) c.1836C>T (p.Cys612=) c.1641C>T (p.Cys547=) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.50242281G>C | CA392376424 | HDC | c.1968C>G (p.Cys656Trp) c.1869C>G (p.Cys623Trp) n.1712C>G c.1731C>G (p.Cys577Trp) c.1536C>G (p.Cys512Trp) c.2073C>G (p.Cys691Trp) c.1974C>G (p.Cys658Trp) c.1845C>G (p.Cys615Trp) c.1836C>G (p.Cys612Trp) c.1641C>G (p.Cys547Trp) | |
15 | g.50242281G= | CA2176326523 | HDC | c.1968C= (p.Cys656=) c.1869C= (p.Cys623=) n.1712C= c.1731C= (p.Cys577=) c.1536C= (p.Cys512=) c.2073C= (p.Cys691=) c.1974C= (p.Cys658=) c.1845C= (p.Cys615=) c.1836C= (p.Cys612=) c.1641C= (p.Cys547=) | |
15 | g.50242281G>T | CA392376425 | HDC | c.1968C>A (p.Cys656Ter) c.1869C>A (p.Cys623Ter) n.1712C>A c.1731C>A (p.Cys577Ter) c.1536C>A (p.Cys512Ter) c.2073C>A (p.Cys691Ter) c.1974C>A (p.Cys658Ter) c.1845C>A (p.Cys615Ter) c.1836C>A (p.Cys612Ter) c.1641C>A (p.Cys547Ter) | |
15 | g.50242282C>A | CA392376426 | HDC | c.1967G>T (p.Cys656Phe) c.1868G>T (p.Cys623Phe) n.1711G>T c.1730G>T (p.Cys577Phe) c.1535G>T (p.Cys512Phe) c.2072G>T (p.Cys691Phe) c.1973G>T (p.Cys658Phe) c.1844G>T (p.Cys615Phe) c.1835G>T (p.Cys612Phe) c.1640G>T (p.Cys547Phe) | |
15 | g.50242282C>G | CA392376427 | HDC | c.1967G>C (p.Cys656Ser) c.1868G>C (p.Cys623Ser) n.1711G>C c.1730G>C (p.Cys577Ser) c.1535G>C (p.Cys512Ser) c.2072G>C (p.Cys691Ser) c.1973G>C (p.Cys658Ser) c.1844G>C (p.Cys615Ser) c.1835G>C (p.Cys612Ser) c.1640G>C (p.Cys547Ser) | |
15 | g.50242282C>T | CA392376428 | HDC | c.1967G>A (p.Cys656Tyr) c.1868G>A (p.Cys623Tyr) n.1711G>A c.1730G>A (p.Cys577Tyr) c.1535G>A (p.Cys512Tyr) c.2072G>A (p.Cys691Tyr) c.1973G>A (p.Cys658Tyr) c.1844G>A (p.Cys615Tyr) c.1835G>A (p.Cys612Tyr) c.1640G>A (p.Cys547Tyr) | |
15 | g.50242283A= | CA2176326524 | HDC | c.1966T= (p.Cys656=) c.1867T= (p.Cys623=) n.1710T= c.1729T= (p.Cys577=) c.1534T= (p.Cys512=) c.2071T= (p.Cys691=) c.1972T= (p.Cys658=) c.1843T= (p.Cys615=) c.1834T= (p.Cys612=) c.1639T= (p.Cys547=) | |
15 | g.50242283A>C | CA392376429 | HDC | c.1966T>G (p.Cys656Gly) c.1867T>G (p.Cys623Gly) n.1710T>G c.1729T>G (p.Cys577Gly) c.1534T>G (p.Cys512Gly) c.2071T>G (p.Cys691Gly) c.1972T>G (p.Cys658Gly) c.1843T>G (p.Cys615Gly) c.1834T>G (p.Cys612Gly) c.1639T>G (p.Cys547Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.50242283A>G | CA392376431 | HDC | c.1966T>C (p.Cys656Arg) c.1867T>C (p.Cys623Arg) n.1710T>C c.1729T>C (p.Cys577Arg) c.1534T>C (p.Cys512Arg) c.2071T>C (p.Cys691Arg) c.1972T>C (p.Cys658Arg) c.1843T>C (p.Cys615Arg) c.1834T>C (p.Cys612Arg) c.1639T>C (p.Cys547Arg) | |
15 | g.50242283A>T | CA392376430 | HDC | c.1966T>A (p.Cys656Ser) c.1867T>A (p.Cys623Ser) n.1710T>A c.1729T>A (p.Cys577Ser) c.1534T>A (p.Cys512Ser) c.2071T>A (p.Cys691Ser) c.1972T>A (p.Cys658Ser) c.1843T>A (p.Cys615Ser) c.1834T>A (p.Cys612Ser) c.1639T>A (p.Cys547Ser) | |
15 | g.50242284A>C | CA392376432 | HDC | c.1965T>G (p.Cys655Trp) c.1866T>G (p.Cys622Trp) n.1709T>G c.1728T>G (p.Cys576Trp) c.1533T>G (p.Cys511Trp) c.2070T>G (p.Cys690Trp) c.1971T>G (p.Cys657Trp) c.1842T>G (p.Cys614Trp) c.1833T>G (p.Cys611Trp) c.1638T>G (p.Cys546Trp) | |
15 | g.50242284A>G | CA490064109 | HDC | c.1965T>C (p.Cys655=) c.1866T>C (p.Cys622=) n.1709T>C c.1728T>C (p.Cys576=) c.1533T>C (p.Cys511=) c.2070T>C (p.Cys690=) c.1971T>C (p.Cys657=) c.1842T>C (p.Cys614=) c.1833T>C (p.Cys611=) c.1638T>C (p.Cys546=) | |
15 | g.50242284A>T | CA392376433 | HDC | c.1965T>A (p.Cys655Ter) c.1866T>A (p.Cys622Ter) n.1709T>A c.1728T>A (p.Cys576Ter) c.1533T>A (p.Cys511Ter) c.2070T>A (p.Cys690Ter) c.1971T>A (p.Cys657Ter) c.1842T>A (p.Cys614Ter) c.1833T>A (p.Cys611Ter) c.1638T>A (p.Cys546Ter) | |
15 | g.50242285C>A | CA392376434 | HDC | c.1964G>T (p.Cys655Phe) c.1865G>T (p.Cys622Phe) n.1708G>T c.1727G>T (p.Cys576Phe) c.1532G>T (p.Cys511Phe) c.2069G>T (p.Cys690Phe) c.1970G>T (p.Cys657Phe) c.1841G>T (p.Cys614Phe) c.1832G>T (p.Cys611Phe) c.1637G>T (p.Cys546Phe) | gnomAD v4 |
15 | g.50242285C= | CA2176326525 | HDC | c.1964G= (p.Cys655=) c.1865G= (p.Cys622=) n.1708G= c.1727G= (p.Cys576=) c.1532G= (p.Cys511=) c.2069G= (p.Cys690=) c.1970G= (p.Cys657=) c.1841G= (p.Cys614=) c.1832G= (p.Cys611=) c.1637G= (p.Cys546=) | |
15 | g.50242285C>G | CA392376435 | HDC | c.1964G>C (p.Cys655Ser) c.1865G>C (p.Cys622Ser) n.1708G>C c.1727G>C (p.Cys576Ser) c.1532G>C (p.Cys511Ser) c.2069G>C (p.Cys690Ser) c.1970G>C (p.Cys657Ser) c.1841G>C (p.Cys614Ser) c.1832G>C (p.Cys611Ser) c.1637G>C (p.Cys546Ser) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.50242285C>T | CA392376436 | HDC | c.1964G>A (p.Cys655Tyr) c.1865G>A (p.Cys622Tyr) n.1708G>A c.1727G>A (p.Cys576Tyr) c.1532G>A (p.Cys511Tyr) c.2069G>A (p.Cys690Tyr) c.1970G>A (p.Cys657Tyr) c.1841G>A (p.Cys614Tyr) c.1832G>A (p.Cys611Tyr) c.1637G>A (p.Cys546Tyr) | gnomAD v4 |
15 | g.50242286A= | CA2176326526 | HDC | c.1963T= (p.Cys655=) c.1864T= (p.Cys622=) n.1707T= c.1726T= (p.Cys576=) c.1531T= (p.Cys511=) c.2068T= (p.Cys690=) c.1969T= (p.Cys657=) c.1840T= (p.Cys614=) c.1831T= (p.Cys611=) c.1636T= (p.Cys546=) | |
15 | g.50242286A>C | CA392376437 | HDC | c.1963T>G (p.Cys655Gly) c.1864T>G (p.Cys622Gly) n.1707T>G c.1726T>G (p.Cys576Gly) c.1531T>G (p.Cys511Gly) c.2068T>G (p.Cys690Gly) c.1969T>G (p.Cys657Gly) c.1840T>G (p.Cys614Gly) c.1831T>G (p.Cys611Gly) c.1636T>G (p.Cys546Gly) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.50242286A>G | CA392376438 | HDC | c.1963T>C (p.Cys655Arg) c.1864T>C (p.Cys622Arg) n.1707T>C c.1726T>C (p.Cys576Arg) c.1531T>C (p.Cys511Arg) c.2068T>C (p.Cys690Arg) c.1969T>C (p.Cys657Arg) c.1840T>C (p.Cys614Arg) c.1831T>C (p.Cys611Arg) c.1636T>C (p.Cys546Arg) | |
15 | g.50242286A>T | CA392376439 | HDC | c.1963T>A (p.Cys655Ser) c.1864T>A (p.Cys622Ser) n.1707T>A c.1726T>A (p.Cys576Ser) c.1531T>A (p.Cys511Ser) c.2068T>A (p.Cys690Ser) c.1969T>A (p.Cys657Ser) c.1840T>A (p.Cys614Ser) c.1831T>A (p.Cys611Ser) c.1636T>A (p.Cys546Ser) | |
15 | g.50242287G>A | CA490064110 | HDC | c.1962C>T (p.Pro654=) c.1863C>T (p.Pro621=) n.1706C>T c.1725C>T (p.Pro575=) c.1530C>T (p.Pro510=) c.2067C>T (p.Pro689=) c.1968C>T (p.Pro656=) c.1839C>T (p.Pro613=) c.1830C>T (p.Pro610=) c.1635C>T (p.Pro545=) | |
15 | g.50242287G>C | CA490064111 | HDC | c.1962C>G (p.Pro654=) c.1863C>G (p.Pro621=) n.1706C>G c.1725C>G (p.Pro575=) c.1530C>G (p.Pro510=) c.2067C>G (p.Pro689=) c.1968C>G (p.Pro656=) c.1839C>G (p.Pro613=) c.1830C>G (p.Pro610=) c.1635C>G (p.Pro545=) | |
15 | g.50242287G= | CA2176326527 | HDC | c.1962C= (p.Pro654=) c.1863C= (p.Pro621=) n.1706C= c.1725C= (p.Pro575=) c.1530C= (p.Pro510=) c.2067C= (p.Pro689=) c.1968C= (p.Pro656=) c.1839C= (p.Pro613=) c.1830C= (p.Pro610=) c.1635C= (p.Pro545=) | |
15 | g.50242287G>T | CA490064112 | HDC | c.1962C>A (p.Pro654=) c.1863C>A (p.Pro621=) n.1706C>A c.1725C>A (p.Pro575=) c.1530C>A (p.Pro510=) c.2067C>A (p.Pro689=) c.1968C>A (p.Pro656=) c.1839C>A (p.Pro613=) c.1830C>A (p.Pro610=) c.1635C>A (p.Pro545=) | dbSNP gnomAD v4 |
15 | g.50242288G>A | CA392376440 | HDC | c.1961C>T (p.Pro654Leu) c.1862C>T (p.Pro621Leu) n.1705C>T c.1724C>T (p.Pro575Leu) c.1529C>T (p.Pro510Leu) c.2066C>T (p.Pro689Leu) c.1967C>T (p.Pro656Leu) c.1838C>T (p.Pro613Leu) c.1829C>T (p.Pro610Leu) c.1634C>T (p.Pro545Leu) | |
15 | g.50242288G>C | CA392376441 | HDC | c.1961C>G (p.Pro654Arg) c.1862C>G (p.Pro621Arg) n.1705C>G c.1724C>G (p.Pro575Arg) c.1529C>G (p.Pro510Arg) c.2066C>G (p.Pro689Arg) c.1967C>G (p.Pro656Arg) c.1838C>G (p.Pro613Arg) c.1829C>G (p.Pro610Arg) c.1634C>G (p.Pro545Arg) | |
15 | g.50242288G>T | CA392376442 | HDC | c.1961C>A (p.Pro654His) c.1862C>A (p.Pro621His) n.1705C>A c.1724C>A (p.Pro575His) c.1529C>A (p.Pro510His) c.2066C>A (p.Pro689His) c.1967C>A (p.Pro656His) c.1838C>A (p.Pro613His) c.1829C>A (p.Pro610His) c.1634C>A (p.Pro545His) | |
15 | g.50242289G>A | CA392376444 | HDC | c.1960C>T (p.Pro654Ser) c.1861C>T (p.Pro621Ser) n.1704C>T c.1723C>T (p.Pro575Ser) c.1528C>T (p.Pro510Ser) c.2065C>T (p.Pro689Ser) c.1966C>T (p.Pro656Ser) c.1837C>T (p.Pro613Ser) c.1828C>T (p.Pro610Ser) c.1633C>T (p.Pro545Ser) | |
15 | g.50242289G>C | CA392376445 | HDC | c.1960C>G (p.Pro654Ala) c.1861C>G (p.Pro621Ala) n.1704C>G c.1723C>G (p.Pro575Ala) c.1528C>G (p.Pro510Ala) c.2065C>G (p.Pro689Ala) c.1966C>G (p.Pro656Ala) c.1837C>G (p.Pro613Ala) c.1828C>G (p.Pro610Ala) c.1633C>G (p.Pro545Ala) | |
15 | g.50242289G>T | CA392376443 | HDC | c.1960C>A (p.Pro654Thr) c.1861C>A (p.Pro621Thr) n.1704C>A c.1723C>A (p.Pro575Thr) c.1528C>A (p.Pro510Thr) c.2065C>A (p.Pro689Thr) c.1966C>A (p.Pro656Thr) c.1837C>A (p.Pro613Thr) c.1828C>A (p.Pro610Thr) c.1633C>A (p.Pro545Thr) | |
15 | g.50242290C>A | CA490064113 | HDC | c.1959G>T (p.Leu653=) c.1860G>T (p.Leu620=) n.1703G>T c.1722G>T (p.Leu574=) c.1527G>T (p.Leu509=) c.2064G>T (p.Leu688=) c.1965G>T (p.Leu655=) c.1836G>T (p.Leu612=) c.1827G>T (p.Leu609=) c.1632G>T (p.Leu544=) | |
15 | g.50242290C= | CA2176326528 | HDC | c.1959G= (p.Leu653=) c.1860G= (p.Leu620=) n.1703G= c.1722G= (p.Leu574=) c.1527G= (p.Leu509=) c.2064G= (p.Leu688=) c.1965G= (p.Leu655=) c.1836G= (p.Leu612=) c.1827G= (p.Leu609=) c.1632G= (p.Leu544=) | |
15 | g.50242290C>G | CA490064114 | HDC | c.1959G>C (p.Leu653=) c.1860G>C (p.Leu620=) n.1703G>C c.1722G>C (p.Leu574=) c.1527G>C (p.Leu509=) c.2064G>C (p.Leu688=) c.1965G>C (p.Leu655=) c.1836G>C (p.Leu612=) c.1827G>C (p.Leu609=) c.1632G>C (p.Leu544=) | |
15 | g.50242290C>T | CA490064115 | HDC | c.1959G>A (p.Leu653=) c.1860G>A (p.Leu620=) n.1703G>A c.1722G>A (p.Leu574=) c.1527G>A (p.Leu509=) c.2064G>A (p.Leu688=) c.1965G>A (p.Leu655=) c.1836G>A (p.Leu612=) c.1827G>A (p.Leu609=) c.1632G>A (p.Leu544=) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.50242291A= | CA2176326529 | HDC | c.1958T= (p.Leu653=) c.1859T= (p.Leu620=) n.1702T= c.1721T= (p.Leu574=) c.1526T= (p.Leu509=) c.2063T= (p.Leu688=) c.1964T= (p.Leu655=) c.1835T= (p.Leu612=) c.1826T= (p.Leu609=) c.1631T= (p.Leu544=) | |
15 | g.50242291A>C | CA392376448 | HDC | c.1958T>G (p.Leu653Arg) c.1859T>G (p.Leu620Arg) n.1702T>G c.1721T>G (p.Leu574Arg) c.1526T>G (p.Leu509Arg) c.2063T>G (p.Leu688Arg) c.1964T>G (p.Leu655Arg) c.1835T>G (p.Leu612Arg) c.1826T>G (p.Leu609Arg) c.1631T>G (p.Leu544Arg) | |
15 | g.50242291A>G | CA392376446 | HDC | c.1958T>C (p.Leu653Pro) c.1859T>C (p.Leu620Pro) n.1702T>C c.1721T>C (p.Leu574Pro) c.1526T>C (p.Leu509Pro) c.2063T>C (p.Leu688Pro) c.1964T>C (p.Leu655Pro) c.1835T>C (p.Leu612Pro) c.1826T>C (p.Leu609Pro) c.1631T>C (p.Leu544Pro) | |
15 | g.50242291A>T | CA392376447 | HDC | c.1958T>A (p.Leu653Gln) c.1859T>A (p.Leu620Gln) n.1702T>A c.1721T>A (p.Leu574Gln) c.1526T>A (p.Leu509Gln) c.2063T>A (p.Leu688Gln) c.1964T>A (p.Leu655Gln) c.1835T>A (p.Leu612Gln) c.1826T>A (p.Leu609Gln) c.1631T>A (p.Leu544Gln) | |
15 | g.50242291_50242292insTGGGG | CA617860224 | HDC | c.1957_1958insCCCCA (p.Leu653ProfsTer?) c.1858_1859insCCCCA (p.Leu620ProfsTer?) n.1701_1702insCCCCA c.1720_1721insCCCCA (p.Leu574ProfsTer?) c.1525_1526insCCCCA (p.Leu509ProfsTer?) c.2062_2063insCCCCA (p.Leu688ProfsTer?) c.1963_1964insCCCCA (p.Leu655ProfsTer?) c.1834_1835insCCCCA (p.Leu612ProfsTer?) c.1825_1826insCCCCA (p.Leu609ProfsTer?) c.1630_1631insCCCCA (p.Leu544ProfsTer?) | dbSNP gnomAD v2 |
15 | g.50242292G>A | CA490064116 | HDC | c.1957C>T (p.Leu653=) c.1858C>T (p.Leu620=) n.1701C>T c.1720C>T (p.Leu574=) c.1525C>T (p.Leu509=) c.2062C>T (p.Leu688=) c.1963C>T (p.Leu655=) c.1834C>T (p.Leu612=) c.1825C>T (p.Leu609=) c.1630C>T (p.Leu544=) | dbSNP |
15 | g.50242292G>C | CA7554462 | HDC | c.1957C>G (p.Leu653Val) c.1858C>G (p.Leu620Val) n.1701C>G c.1720C>G (p.Leu574Val) c.1525C>G (p.Leu509Val) c.2062C>G (p.Leu688Val) c.1963C>G (p.Leu655Val) c.1834C>G (p.Leu612Val) c.1825C>G (p.Leu609Val) c.1630C>G (p.Leu544Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.50242292G= | CA2176326530 | HDC | c.1957C= (p.Leu653=) c.1858C= (p.Leu620=) n.1701C= c.1720C= (p.Leu574=) c.1525C= (p.Leu509=) c.2062C= (p.Leu688=) c.1963C= (p.Leu655=) c.1834C= (p.Leu612=) c.1825C= (p.Leu609=) c.1630C= (p.Leu544=) | |
15 | g.50242292G>T | CA392376449 | HDC | c.1957C>A (p.Leu653Met) c.1858C>A (p.Leu620Met) n.1701C>A c.1720C>A (p.Leu574Met) c.1525C>A (p.Leu509Met) c.2062C>A (p.Leu688Met) c.1963C>A (p.Leu655Met) c.1834C>A (p.Leu612Met) c.1825C>A (p.Leu609Met) c.1630C>A (p.Leu544Met) | |
15 | g.50242293C>A | CA392376450 | HDC | c.1956G>T (p.Gln652His) c.1857G>T (p.Gln619His) n.1700G>T c.1719G>T (p.Gln573His) c.1524G>T (p.Gln508His) c.2061G>T (p.Gln687His) c.1962G>T (p.Gln654His) c.1833G>T (p.Gln611His) c.1824G>T (p.Gln608His) c.1629G>T (p.Gln543His) | |
15 | g.50242293C= | CA2176326531 | HDC | c.1956G= (p.Gln652=) c.1857G= (p.Gln619=) n.1700G= c.1719G= (p.Gln573=) c.1524G= (p.Gln508=) c.2061G= (p.Gln687=) c.1962G= (p.Gln654=) c.1833G= (p.Gln611=) c.1824G= (p.Gln608=) c.1629G= (p.Gln543=) | |
15 | g.50242293C>G | CA7554463 | HDC | c.1956G>C (p.Gln652His) c.1857G>C (p.Gln619His) n.1700G>C c.1719G>C (p.Gln573His) c.1524G>C (p.Gln508His) c.2061G>C (p.Gln687His) c.1962G>C (p.Gln654His) c.1833G>C (p.Gln611His) c.1824G>C (p.Gln608His) c.1629G>C (p.Gln543His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.50242293C>T | CA490064117 | HDC | c.1956G>A (p.Gln652=) c.1857G>A (p.Gln619=) n.1700G>A c.1719G>A (p.Gln573=) c.1524G>A (p.Gln508=) c.2061G>A (p.Gln687=) c.1962G>A (p.Gln654=) c.1833G>A (p.Gln611=) c.1824G>A (p.Gln608=) c.1629G>A (p.Gln543=) | |
15 | g.50242294T>A | CA392376451 | HDC | c.1955A>T (p.Gln652Leu) c.1856A>T (p.Gln619Leu) n.1699A>T c.1718A>T (p.Gln573Leu) c.1523A>T (p.Gln508Leu) c.2060A>T (p.Gln687Leu) c.1961A>T (p.Gln654Leu) c.1832A>T (p.Gln611Leu) c.1823A>T (p.Gln608Leu) c.1628A>T (p.Gln543Leu) | |
15 | g.50242294T>C | CA392376452 | HDC | c.1955A>G (p.Gln652Arg) c.1856A>G (p.Gln619Arg) n.1699A>G c.1718A>G (p.Gln573Arg) c.1523A>G (p.Gln508Arg) c.2060A>G (p.Gln687Arg) c.1961A>G (p.Gln654Arg) c.1832A>G (p.Gln611Arg) c.1823A>G (p.Gln608Arg) c.1628A>G (p.Gln543Arg) | |
15 | g.50242294T>G | CA392376453 | HDC | c.1955A>C (p.Gln652Pro) c.1856A>C (p.Gln619Pro) n.1699A>C c.1718A>C (p.Gln573Pro) c.1523A>C (p.Gln508Pro) c.2060A>C (p.Gln687Pro) c.1961A>C (p.Gln654Pro) c.1832A>C (p.Gln611Pro) c.1823A>C (p.Gln608Pro) c.1628A>C (p.Gln543Pro) | |
15 | g.50242294_50242295insCCTCCAGGGTCAGAATCTTTTCCAGGTTTCCAGAAGACATGAT | CA617860228 | HDC | c.1955_1956insTCATGTCTTCTGGAAACCTGGAAAAGATTCTGACCCTGGAGGA (p.Gln652HisfsTer35) c.1856_1857insTCATGTCTTCTGGAAACCTGGAAAAGATTCTGACCCTGGAGGA (p.Gln619HisfsTer35) n.1699_1700insTCATGTCTTCTGGAAACCTGGAAAAGATTCTGACCCTGGAGGA c.1718_1719insTCATGTCTTCTGGAAACCTGGAAAAGATTCTGACCCTGGAGGA (p.Gln573HisfsTer35) c.1523_1524insTCATGTCTTCTGGAAACCTGGAAAAGATTCTGACCCTGGAGGA (p.Gln508HisfsTer35) c.2060_2061insTCATGTCTTCTGGAAACCTGGAAAAGATTCTGACCCTGGAGGA (p.Gln687HisfsTer35) c.1961_1962insTCATGTCTTCTGGAAACCTGGAAAAGATTCTGACCCTGGAGGA (p.Gln654HisfsTer35) c.1832_1833insTCATGTCTTCTGGAAACCTGGAAAAGATTCTGACCCTGGAGGA (p.Gln611HisfsTer35) c.1823_1824insTCATGTCTTCTGGAAACCTGGAAAAGATTCTGACCCTGGAGGA (p.Gln608HisfsTer35) c.1628_1629insTCATGTCTTCTGGAAACCTGGAAAAGATTCTGACCCTGGAGGA (p.Gln543HisfsTer35) | dbSNP gnomAD v2 |
15 | g.50242295G>A | CA392376454 | HDC | c.1954C>T (p.Gln652Ter) c.1855C>T (p.Gln619Ter) n.1698C>T c.1717C>T (p.Gln573Ter) c.1522C>T (p.Gln508Ter) c.2059C>T (p.Gln687Ter) c.1960C>T (p.Gln654Ter) c.1831C>T (p.Gln611Ter) c.1822C>T (p.Gln608Ter) c.1627C>T (p.Gln543Ter) | |
15 | g.50242295G>C | CA392376455 | HDC | c.1954C>G (p.Gln652Glu) c.1855C>G (p.Gln619Glu) n.1698C>G c.1717C>G (p.Gln573Glu) c.1522C>G (p.Gln508Glu) c.2059C>G (p.Gln687Glu) c.1960C>G (p.Gln654Glu) c.1831C>G (p.Gln611Glu) c.1822C>G (p.Gln608Glu) c.1627C>G (p.Gln543Glu) | |
15 | g.50242295G>T | CA392376456 | HDC | c.1954C>A (p.Gln652Lys) c.1855C>A (p.Gln619Lys) n.1698C>A c.1717C>A (p.Gln573Lys) c.1522C>A (p.Gln508Lys) c.2059C>A (p.Gln687Lys) c.1960C>A (p.Gln654Lys) c.1831C>A (p.Gln611Lys) c.1822C>A (p.Gln608Lys) c.1627C>A (p.Gln543Lys) | |
15 | g.50242296G>A | CA490064118 | HDC | c.1953C>T (p.Leu651=) c.1854C>T (p.Leu618=) n.1697C>T c.1716C>T (p.Leu572=) c.1521C>T (p.Leu507=) c.2058C>T (p.Leu686=) c.1959C>T (p.Leu653=) c.1830C>T (p.Leu610=) c.1821C>T (p.Leu607=) c.1626C>T (p.Leu542=) | |
15 | g.50242296G>C | CA490064119 | HDC | c.1953C>G (p.Leu651=) c.1854C>G (p.Leu618=) n.1697C>G c.1716C>G (p.Leu572=) c.1521C>G (p.Leu507=) c.2058C>G (p.Leu686=) c.1959C>G (p.Leu653=) c.1830C>G (p.Leu610=) c.1821C>G (p.Leu607=) c.1626C>G (p.Leu542=) | |
15 | g.50242296G= | CA2176326532 | HDC | c.1953C= (p.Leu651=) c.1854C= (p.Leu618=) n.1697C= c.1716C= (p.Leu572=) c.1521C= (p.Leu507=) c.2058C= (p.Leu686=) c.1959C= (p.Leu653=) c.1830C= (p.Leu610=) c.1821C= (p.Leu607=) c.1626C= (p.Leu542=) | |
15 | g.50242296G>T | CA7554464 | HDC | c.1953C>A (p.Leu651=) c.1854C>A (p.Leu618=) n.1697C>A c.1716C>A (p.Leu572=) c.1521C>A (p.Leu507=) c.2058C>A (p.Leu686=) c.1959C>A (p.Leu653=) c.1830C>A (p.Leu610=) c.1821C>A (p.Leu607=) c.1626C>A (p.Leu542=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.50242297A= | CA2176326533 | HDC | c.1952T= (p.Leu651=) c.1853T= (p.Leu618=) n.1696T= c.1715T= (p.Leu572=) c.1520T= (p.Leu507=) c.2057T= (p.Leu686=) c.1958T= (p.Leu653=) c.1829T= (p.Leu610=) c.1820T= (p.Leu607=) c.1625T= (p.Leu542=) | |
15 | g.50242297A>C | CA392376459 | HDC | c.1952T>G (p.Leu651Arg) c.1853T>G (p.Leu618Arg) n.1696T>G c.1715T>G (p.Leu572Arg) c.1520T>G (p.Leu507Arg) c.2057T>G (p.Leu686Arg) c.1958T>G (p.Leu653Arg) c.1829T>G (p.Leu610Arg) c.1820T>G (p.Leu607Arg) c.1625T>G (p.Leu542Arg) | |
15 | g.50242297A>G | CA392376457 | HDC | c.1952T>C (p.Leu651Pro) c.1853T>C (p.Leu618Pro) n.1696T>C c.1715T>C (p.Leu572Pro) c.1520T>C (p.Leu507Pro) c.2057T>C (p.Leu686Pro) c.1958T>C (p.Leu653Pro) c.1829T>C (p.Leu610Pro) c.1820T>C (p.Leu607Pro) c.1625T>C (p.Leu542Pro) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.50242297A>T | CA392376458 | HDC | c.1952T>A (p.Leu651His) c.1853T>A (p.Leu618His) n.1696T>A c.1715T>A (p.Leu572His) c.1520T>A (p.Leu507His) c.2057T>A (p.Leu686His) c.1958T>A (p.Leu653His) c.1829T>A (p.Leu610His) c.1820T>A (p.Leu607His) c.1625T>A (p.Leu542His) | |
15 | g.50242298G>A | CA392376460 | HDC | c.1951C>T (p.Leu651Phe) c.1852C>T (p.Leu618Phe) n.1695C>T c.1714C>T (p.Leu572Phe) c.1519C>T (p.Leu507Phe) c.2056C>T (p.Leu686Phe) c.1957C>T (p.Leu653Phe) c.1828C>T (p.Leu610Phe) c.1819C>T (p.Leu607Phe) c.1624C>T (p.Leu542Phe) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.50242298G>C | CA392376461 | HDC | c.1951C>G (p.Leu651Val) c.1852C>G (p.Leu618Val) n.1695C>G c.1714C>G (p.Leu572Val) c.1519C>G (p.Leu507Val) c.2056C>G (p.Leu686Val) c.1957C>G (p.Leu653Val) c.1828C>G (p.Leu610Val) c.1819C>G (p.Leu607Val) c.1624C>G (p.Leu542Val) | |
15 | g.50242298G= | CA2176326534 | HDC | c.1951C= (p.Leu651=) c.1852C= (p.Leu618=) n.1695C= c.1714C= (p.Leu572=) c.1519C= (p.Leu507=) c.2056C= (p.Leu686=) c.1957C= (p.Leu653=) c.1828C= (p.Leu610=) c.1819C= (p.Leu607=) c.1624C= (p.Leu542=) | |
15 | g.50242298G>T | CA392376462 | HDC | c.1951C>A (p.Leu651Ile) c.1852C>A (p.Leu618Ile) n.1695C>A c.1714C>A (p.Leu572Ile) c.1519C>A (p.Leu507Ile) c.2056C>A (p.Leu686Ile) c.1957C>A (p.Leu653Ile) c.1828C>A (p.Leu610Ile) c.1819C>A (p.Leu607Ile) c.1624C>A (p.Leu542Ile) | |
15 | g.50242299T>A | CA490064121 | HDC | c.1950A>T (p.Gly650=) c.1851A>T (p.Gly617=) n.1694A>T c.1713A>T (p.Gly571=) c.1518A>T (p.Gly506=) c.2055A>T (p.Gly685=) c.1956A>T (p.Gly652=) c.1827A>T (p.Gly609=) c.1818A>T (p.Gly606=) c.1623A>T (p.Gly541=) | |
15 | g.50242299T>C | CA490064120 | HDC | c.1950A>G (p.Gly650=) c.1851A>G (p.Gly617=) n.1694A>G c.1713A>G (p.Gly571=) c.1518A>G (p.Gly506=) c.2055A>G (p.Gly685=) c.1956A>G (p.Gly652=) c.1827A>G (p.Gly609=) c.1818A>G (p.Gly606=) c.1623A>G (p.Gly541=) | |
15 | g.50242299T>G | CA7554465 | HDC | c.1950A>C (p.Gly650=) c.1851A>C (p.Gly617=) n.1694A>C c.1713A>C (p.Gly571=) c.1518A>C (p.Gly506=) c.2055A>C (p.Gly685=) c.1956A>C (p.Gly652=) c.1827A>C (p.Gly609=) c.1818A>C (p.Gly606=) c.1623A>C (p.Gly541=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.50242299T= | CA2176326535 | HDC | c.1950A= (p.Gly650=) c.1851A= (p.Gly617=) n.1694A= c.1713A= (p.Gly571=) c.1518A= (p.Gly506=) c.2055A= (p.Gly685=) c.1956A= (p.Gly652=) c.1827A= (p.Gly609=) c.1818A= (p.Gly606=) c.1623A= (p.Gly541=) | |
15 | g.50242300C>A | CA392376463 | HDC | c.1949G>T (p.Gly650Val) c.1850G>T (p.Gly617Val) n.1693G>T c.1712G>T (p.Gly571Val) c.1517G>T (p.Gly506Val) c.2054G>T (p.Gly685Val) c.1955G>T (p.Gly652Val) c.1826G>T (p.Gly609Val) c.1817G>T (p.Gly606Val) c.1622G>T (p.Gly541Val) | |
15 | g.50242300C= | CA2176326536 | HDC | c.1949G= (p.Gly650=) c.1850G= (p.Gly617=) n.1693G= c.1712G= (p.Gly571=) c.1517G= (p.Gly506=) c.2054G= (p.Gly685=) c.1955G= (p.Gly652=) c.1826G= (p.Gly609=) c.1817G= (p.Gly606=) c.1622G= (p.Gly541=) | |
15 | g.50242300C>G | CA392376464 | HDC | c.1949G>C (p.Gly650Ala) c.1850G>C (p.Gly617Ala) n.1693G>C c.1712G>C (p.Gly571Ala) c.1517G>C (p.Gly506Ala) c.2054G>C (p.Gly685Ala) c.1955G>C (p.Gly652Ala) c.1826G>C (p.Gly609Ala) c.1817G>C (p.Gly606Ala) c.1622G>C (p.Gly541Ala) | |
15 | g.50242300C>T | CA270413709 | HDC | c.1949G>A (p.Gly650Glu) c.1850G>A (p.Gly617Glu) n.1693G>A c.1712G>A (p.Gly571Glu) c.1517G>A (p.Gly506Glu) c.2054G>A (p.Gly685Glu) c.1955G>A (p.Gly652Glu) c.1826G>A (p.Gly609Glu) c.1817G>A (p.Gly606Glu) c.1622G>A (p.Gly541Glu) | dbSNP |
15 | g.50242301C>A | CA392376465 | HDC | c.1948G>T (p.Gly650Ter) c.1849G>T (p.Gly617Ter) n.1692G>T c.1711G>T (p.Gly571Ter) c.1516G>T (p.Gly506Ter) c.2053G>T (p.Gly685Ter) c.1954G>T (p.Gly652Ter) c.1825G>T (p.Gly609Ter) c.1816G>T (p.Gly606Ter) c.1621G>T (p.Gly541Ter) | |
15 | g.50242301C= | CA2176326537 | HDC | c.1948G= (p.Gly650=) c.1849G= (p.Gly617=) n.1692G= c.1711G= (p.Gly571=) c.1516G= (p.Gly506=) c.2053G= (p.Gly685=) c.1954G= (p.Gly652=) c.1825G= (p.Gly609=) c.1816G= (p.Gly606=) c.1621G= (p.Gly541=) | |
15 | g.50242301C>G | CA392376466 | HDC | c.1948G>C (p.Gly650Arg) c.1849G>C (p.Gly617Arg) n.1692G>C c.1711G>C (p.Gly571Arg) c.1516G>C (p.Gly506Arg) c.2053G>C (p.Gly685Arg) c.1954G>C (p.Gly652Arg) c.1825G>C (p.Gly609Arg) c.1816G>C (p.Gly606Arg) c.1621G>C (p.Gly541Arg) | |
15 | g.50242301C>T | CA392376467 | HDC | c.1948G>A (p.Gly650Arg) c.1849G>A (p.Gly617Arg) n.1692G>A c.1711G>A (p.Gly571Arg) c.1516G>A (p.Gly506Arg) c.2053G>A (p.Gly685Arg) c.1954G>A (p.Gly652Arg) c.1825G>A (p.Gly609Arg) c.1816G>A (p.Gly606Arg) c.1621G>A (p.Gly541Arg) | dbSNP |
15 | g.50242302A= | CA2176326538 | HDC | c.1947T= (p.Cys649=) c.1848T= (p.Cys616=) n.1691T= c.1710T= (p.Cys570=) c.1515T= (p.Cys505=) c.2052T= (p.Cys684=) c.1953T= (p.Cys651=) c.1824T= (p.Cys608=) c.1815T= (p.Cys605=) c.1620T= (p.Cys540=) | |
15 | g.50242302A>C | CA392376468 | HDC | c.1947T>G (p.Cys649Trp) c.1848T>G (p.Cys616Trp) n.1691T>G c.1710T>G (p.Cys570Trp) c.1515T>G (p.Cys505Trp) c.2052T>G (p.Cys684Trp) c.1953T>G (p.Cys651Trp) c.1824T>G (p.Cys608Trp) c.1815T>G (p.Cys605Trp) c.1620T>G (p.Cys540Trp) | |
15 | g.50242302A>G | CA490064122 | HDC | c.1947T>C (p.Cys649=) c.1848T>C (p.Cys616=) n.1691T>C c.1710T>C (p.Cys570=) c.1515T>C (p.Cys505=) c.2052T>C (p.Cys684=) c.1953T>C (p.Cys651=) c.1824T>C (p.Cys608=) c.1815T>C (p.Cys605=) c.1620T>C (p.Cys540=) | |
15 | g.50242302A>T | CA392376469 | HDC | c.1947T>A (p.Cys649Ter) c.1848T>A (p.Cys616Ter) n.1691T>A c.1710T>A (p.Cys570Ter) c.1515T>A (p.Cys505Ter) c.2052T>A (p.Cys684Ter) c.1953T>A (p.Cys651Ter) c.1824T>A (p.Cys608Ter) c.1815T>A (p.Cys605Ter) c.1620T>A (p.Cys540Ter) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.50242303C>A | CA392376471 | HDC | c.1946G>T (p.Cys649Phe) c.1847G>T (p.Cys616Phe) n.1690G>T c.1709G>T (p.Cys570Phe) c.1514G>T (p.Cys505Phe) c.2051G>T (p.Cys684Phe) c.1952G>T (p.Cys651Phe) c.1823G>T (p.Cys608Phe) c.1814G>T (p.Cys605Phe) c.1619G>T (p.Cys540Phe) | |
15 | g.50242303C= | CA2176326539 | HDC | c.1946G= (p.Cys649=) c.1847G= (p.Cys616=) n.1690G= c.1709G= (p.Cys570=) c.1514G= (p.Cys505=) c.2051G= (p.Cys684=) c.1952G= (p.Cys651=) c.1823G= (p.Cys608=) c.1814G= (p.Cys605=) c.1619G= (p.Cys540=) | |
15 | g.50242303C>G | CA392376470 | HDC | c.1946G>C (p.Cys649Ser) c.1847G>C (p.Cys616Ser) n.1690G>C c.1709G>C (p.Cys570Ser) c.1514G>C (p.Cys505Ser) c.2051G>C (p.Cys684Ser) c.1952G>C (p.Cys651Ser) c.1823G>C (p.Cys608Ser) c.1814G>C (p.Cys605Ser) c.1619G>C (p.Cys540Ser) | |
15 | g.50242303C>T | CA7554466 | HDC | c.1946G>A (p.Cys649Tyr) c.1847G>A (p.Cys616Tyr) n.1690G>A c.1709G>A (p.Cys570Tyr) c.1514G>A (p.Cys505Tyr) c.2051G>A (p.Cys684Tyr) c.1952G>A (p.Cys651Tyr) c.1823G>A (p.Cys608Tyr) c.1814G>A (p.Cys605Tyr) c.1619G>A (p.Cys540Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.50242304A= | CA2176326540 | HDC | c.1945T= (p.Cys649=) c.1846T= (p.Cys616=) n.1689T= c.1708T= (p.Cys570=) c.1513T= (p.Cys505=) c.2050T= (p.Cys684=) c.1951T= (p.Cys651=) c.1822T= (p.Cys608=) c.1813T= (p.Cys605=) c.1618T= (p.Cys540=) | |
15 | g.50242304A>C | CA392376472 | HDC | c.1945T>G (p.Cys649Gly) c.1846T>G (p.Cys616Gly) n.1689T>G c.1708T>G (p.Cys570Gly) c.1513T>G (p.Cys505Gly) c.2050T>G (p.Cys684Gly) c.1951T>G (p.Cys651Gly) c.1822T>G (p.Cys608Gly) c.1813T>G (p.Cys605Gly) c.1618T>G (p.Cys540Gly) | |
15 | g.50242304A>G | CA392376473 | HDC | c.1945T>C (p.Cys649Arg) c.1846T>C (p.Cys616Arg) n.1689T>C c.1708T>C (p.Cys570Arg) c.1513T>C (p.Cys505Arg) c.2050T>C (p.Cys684Arg) c.1951T>C (p.Cys651Arg) c.1822T>C (p.Cys608Arg) c.1813T>C (p.Cys605Arg) c.1618T>C (p.Cys540Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.50242304A>T | CA392376474 | HDC | c.1945T>A (p.Cys649Ser) c.1846T>A (p.Cys616Ser) n.1689T>A c.1708T>A (p.Cys570Ser) c.1513T>A (p.Cys505Ser) c.2050T>A (p.Cys684Ser) c.1951T>A (p.Cys651Ser) c.1822T>A (p.Cys608Ser) c.1813T>A (p.Cys605Ser) c.1618T>A (p.Cys540Ser) | |
15 | g.50242305T>A | CA392376475 | HDC | c.1944A>T (p.Gln648His) c.1845A>T (p.Gln615His) n.1688A>T c.1707A>T (p.Gln569His) c.1512A>T (p.Gln504His) c.2049A>T (p.Gln683His) c.1950A>T (p.Gln650His) c.1821A>T (p.Gln607His) c.1812A>T (p.Gln604His) c.1617A>T (p.Gln539His) | |
15 | g.50242305T>C | CA7554467 | HDC | c.1944A>G (p.Gln648=) c.1845A>G (p.Gln615=) n.1688A>G c.1707A>G (p.Gln569=) c.1512A>G (p.Gln504=) c.2049A>G (p.Gln683=) c.1950A>G (p.Gln650=) c.1821A>G (p.Gln607=) c.1812A>G (p.Gln604=) c.1617A>G (p.Gln539=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
15 | g.50242305T>G | CA392376476 | HDC | c.1944A>C (p.Gln648His) c.1845A>C (p.Gln615His) n.1688A>C c.1707A>C (p.Gln569His) c.1512A>C (p.Gln504His) c.2049A>C (p.Gln683His) c.1950A>C (p.Gln650His) c.1821A>C (p.Gln607His) c.1812A>C (p.Gln604His) c.1617A>C (p.Gln539His) | |
15 | g.50242305T= | CA2176326541 | HDC | c.1944A= (p.Gln648=) c.1845A= (p.Gln615=) n.1688A= c.1707A= (p.Gln569=) c.1512A= (p.Gln504=) c.2049A= (p.Gln683=) c.1950A= (p.Gln650=) c.1821A= (p.Gln607=) c.1812A= (p.Gln604=) c.1617A= (p.Gln539=) | |
15 | g.50242306T>A | CA392376479 | HDC | c.1943A>T (p.Gln648Leu) c.1844A>T (p.Gln615Leu) n.1687A>T c.1706A>T (p.Gln569Leu) c.1511A>T (p.Gln504Leu) c.2048A>T (p.Gln683Leu) c.1949A>T (p.Gln650Leu) c.1820A>T (p.Gln607Leu) c.1811A>T (p.Gln604Leu) c.1616A>T (p.Gln539Leu) | |
15 | g.50242306T>C | CA392376478 | HDC | c.1943A>G (p.Gln648Arg) c.1844A>G (p.Gln615Arg) n.1687A>G c.1706A>G (p.Gln569Arg) c.1511A>G (p.Gln504Arg) c.2048A>G (p.Gln683Arg) c.1949A>G (p.Gln650Arg) c.1820A>G (p.Gln607Arg) c.1811A>G (p.Gln604Arg) c.1616A>G (p.Gln539Arg) | |
15 | g.50242306T>G | CA392376477 | HDC | c.1943A>C (p.Gln648Pro) c.1844A>C (p.Gln615Pro) n.1687A>C c.1706A>C (p.Gln569Pro) c.1511A>C (p.Gln504Pro) c.2048A>C (p.Gln683Pro) c.1949A>C (p.Gln650Pro) c.1820A>C (p.Gln607Pro) c.1811A>C (p.Gln604Pro) c.1616A>C (p.Gln539Pro) | |
15 | g.50242307G>A | CA7554468 | HDC | c.1942C>T (p.Gln648Ter) c.1843C>T (p.Gln615Ter) n.1686C>T c.1705C>T (p.Gln569Ter) c.1510C>T (p.Gln504Ter) c.2047C>T (p.Gln683Ter) c.1948C>T (p.Gln650Ter) c.1819C>T (p.Gln607Ter) c.1810C>T (p.Gln604Ter) c.1615C>T (p.Gln539Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
15 | g.50242307G>C | CA392376480 | HDC | c.1942C>G (p.Gln648Glu) c.1843C>G (p.Gln615Glu) n.1686C>G c.1705C>G (p.Gln569Glu) c.1510C>G (p.Gln504Glu) c.2047C>G (p.Gln683Glu) c.1948C>G (p.Gln650Glu) c.1819C>G (p.Gln607Glu) c.1810C>G (p.Gln604Glu) c.1615C>G (p.Gln539Glu) | |
15 | g.50242307G= | CA2176326542 | HDC | c.1942C= (p.Gln648=) c.1843C= (p.Gln615=) n.1686C= c.1705C= (p.Gln569=) c.1510C= (p.Gln504=) c.2047C= (p.Gln683=) c.1948C= (p.Gln650=) c.1819C= (p.Gln607=) c.1810C= (p.Gln604=) c.1615C= (p.Gln539=) | |
15 | g.50242307G>T | CA392376481 | HDC | c.1942C>A (p.Gln648Lys) c.1843C>A (p.Gln615Lys) n.1686C>A c.1705C>A (p.Gln569Lys) c.1510C>A (p.Gln504Lys) c.2047C>A (p.Gln683Lys) c.1948C>A (p.Gln650Lys) c.1819C>A (p.Gln607Lys) c.1810C>A (p.Gln604Lys) c.1615C>A (p.Gln539Lys) | |
15 | g.50242308A>C | CA490064123 | HDC | c.1941T>G (p.Ser647=) c.1842T>G (p.Ser614=) n.1685T>G c.1704T>G (p.Ser568=) c.1509T>G (p.Ser503=) c.2046T>G (p.Ser682=) c.1947T>G (p.Ser649=) c.1818T>G (p.Ser606=) c.1809T>G (p.Ser603=) c.1614T>G (p.Ser538=) | |
15 | g.50242308A>G | CA490064124 | HDC | c.1941T>C (p.Ser647=) c.1842T>C (p.Ser614=) n.1685T>C c.1704T>C (p.Ser568=) c.1509T>C (p.Ser503=) c.2046T>C (p.Ser682=) c.1947T>C (p.Ser649=) c.1818T>C (p.Ser606=) c.1809T>C (p.Ser603=) c.1614T>C (p.Ser538=) | |
15 | g.50242308A>T | CA490064125 | HDC | c.1941T>A (p.Ser647=) c.1842T>A (p.Ser614=) n.1685T>A c.1704T>A (p.Ser568=) c.1509T>A (p.Ser503=) c.2046T>A (p.Ser682=) c.1947T>A (p.Ser649=) c.1818T>A (p.Ser606=) c.1809T>A (p.Ser603=) c.1614T>A (p.Ser538=) | |
15 | g.50242309G>A | CA392376482 | HDC | c.1940C>T (p.Ser647Phe) c.1841C>T (p.Ser614Phe) n.1684C>T c.1703C>T (p.Ser568Phe) c.1508C>T (p.Ser503Phe) c.2045C>T (p.Ser682Phe) c.1946C>T (p.Ser649Phe) c.1817C>T (p.Ser606Phe) c.1808C>T (p.Ser603Phe) c.1613C>T (p.Ser538Phe) | gnomAD v4 |
15 | g.50242309G>C | CA392376483 | HDC | c.1940C>G (p.Ser647Cys) c.1841C>G (p.Ser614Cys) n.1684C>G c.1703C>G (p.Ser568Cys) c.1508C>G (p.Ser503Cys) c.2045C>G (p.Ser682Cys) c.1946C>G (p.Ser649Cys) c.1817C>G (p.Ser606Cys) c.1808C>G (p.Ser603Cys) c.1613C>G (p.Ser538Cys) | dbSNP gnomAD v4 |
15 | g.50242309G= | CA2176326543 | HDC | c.1940C= (p.Ser647=) c.1841C= (p.Ser614=) n.1684C= c.1703C= (p.Ser568=) c.1508C= (p.Ser503=) c.2045C= (p.Ser682=) c.1946C= (p.Ser649=) c.1817C= (p.Ser606=) c.1808C= (p.Ser603=) c.1613C= (p.Ser538=) | |
15 | g.50242309G>T | CA392376484 | HDC | c.1940C>A (p.Ser647Tyr) c.1841C>A (p.Ser614Tyr) n.1684C>A c.1703C>A (p.Ser568Tyr) c.1508C>A (p.Ser503Tyr) c.2045C>A (p.Ser682Tyr) c.1946C>A (p.Ser649Tyr) c.1817C>A (p.Ser606Tyr) c.1808C>A (p.Ser603Tyr) c.1613C>A (p.Ser538Tyr) | |
15 | g.50242310A>C | CA392376485 | HDC | c.1939T>G (p.Ser647Ala) c.1840T>G (p.Ser614Ala) n.1683T>G c.1702T>G (p.Ser568Ala) c.1507T>G (p.Ser503Ala) c.2044T>G (p.Ser682Ala) c.1945T>G (p.Ser649Ala) c.1816T>G (p.Ser606Ala) c.1807T>G (p.Ser603Ala) c.1612T>G (p.Ser538Ala) | |
15 | g.50242310A>G | CA392376487 | HDC | c.1939T>C (p.Ser647Pro) c.1840T>C (p.Ser614Pro) n.1683T>C c.1702T>C (p.Ser568Pro) c.1507T>C (p.Ser503Pro) c.2044T>C (p.Ser682Pro) c.1945T>C (p.Ser649Pro) c.1816T>C (p.Ser606Pro) c.1807T>C (p.Ser603Pro) c.1612T>C (p.Ser538Pro) | |
15 | g.50242310A>T | CA392376486 | HDC | c.1939T>A (p.Ser647Thr) c.1840T>A (p.Ser614Thr) n.1683T>A c.1702T>A (p.Ser568Thr) c.1507T>A (p.Ser503Thr) c.2044T>A (p.Ser682Thr) c.1945T>A (p.Ser649Thr) c.1816T>A (p.Ser606Thr) c.1807T>A (p.Ser603Thr) c.1612T>A (p.Ser538Thr) | |
15 | g.50242311G>A | CA7554469 | HDC | c.1938C>T (p.Ser646=) c.1839C>T (p.Ser613=) n.1682C>T c.1701C>T (p.Ser567=) c.1506C>T (p.Ser502=) c.2043C>T (p.Ser681=) c.1944C>T (p.Ser648=) c.1815C>T (p.Ser605=) c.1806C>T (p.Ser602=) c.1611C>T (p.Ser537=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.50242311G>C | CA392376488 | HDC | c.1938C>G (p.Ser646Arg) c.1839C>G (p.Ser613Arg) n.1682C>G c.1701C>G (p.Ser567Arg) c.1506C>G (p.Ser502Arg) c.2043C>G (p.Ser681Arg) c.1944C>G (p.Ser648Arg) c.1815C>G (p.Ser605Arg) c.1806C>G (p.Ser602Arg) c.1611C>G (p.Ser537Arg) | |
15 | g.50242311G= | CA2176326544 | HDC | c.1938C= (p.Ser646=) c.1839C= (p.Ser613=) n.1682C= c.1701C= (p.Ser567=) c.1506C= (p.Ser502=) c.2043C= (p.Ser681=) c.1944C= (p.Ser648=) c.1815C= (p.Ser605=) c.1806C= (p.Ser602=) c.1611C= (p.Ser537=) | |
15 | g.50242311G>T | CA392376489 | HDC | c.1938C>A (p.Ser646Arg) c.1839C>A (p.Ser613Arg) n.1682C>A c.1701C>A (p.Ser567Arg) c.1506C>A (p.Ser502Arg) c.2043C>A (p.Ser681Arg) c.1944C>A (p.Ser648Arg) c.1815C>A (p.Ser605Arg) c.1806C>A (p.Ser602Arg) c.1611C>A (p.Ser537Arg) | |
15 | g.50242312C>A | CA392376490 | HDC | c.1937G>T (p.Ser646Ile) c.1838G>T (p.Ser613Ile) n.1681G>T c.1700G>T (p.Ser567Ile) c.1505G>T (p.Ser502Ile) c.2042G>T (p.Ser681Ile) c.1943G>T (p.Ser648Ile) c.1814G>T (p.Ser605Ile) c.1805G>T (p.Ser602Ile) c.1610G>T (p.Ser537Ile) | dbSNP |
15 | g.50242312C= | CA2176326545 | HDC | c.1937G= (p.Ser646=) c.1838G= (p.Ser613=) n.1681G= c.1700G= (p.Ser567=) c.1505G= (p.Ser502=) c.2042G= (p.Ser681=) c.1943G= (p.Ser648=) c.1814G= (p.Ser605=) c.1805G= (p.Ser602=) c.1610G= (p.Ser537=) | |
15 | g.50242312C>G | CA392376491 | HDC | c.1937G>C (p.Ser646Thr) c.1838G>C (p.Ser613Thr) n.1681G>C c.1700G>C (p.Ser567Thr) c.1505G>C (p.Ser502Thr) c.2042G>C (p.Ser681Thr) c.1943G>C (p.Ser648Thr) c.1814G>C (p.Ser605Thr) c.1805G>C (p.Ser602Thr) c.1610G>C (p.Ser537Thr) | |
15 | g.50242312C>T | CA7554470 | HDC | c.1937G>A (p.Ser646Asn) c.1838G>A (p.Ser613Asn) n.1681G>A c.1700G>A (p.Ser567Asn) c.1505G>A (p.Ser502Asn) c.2042G>A (p.Ser681Asn) c.1943G>A (p.Ser648Asn) c.1814G>A (p.Ser605Asn) c.1805G>A (p.Ser602Asn) c.1610G>A (p.Ser537Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.50242313T>A | CA392376740 | HDC | c.1936A>T (p.Ser646Cys) c.1837A>T (p.Ser613Cys) n.1680A>T c.1699A>T (p.Ser567Cys) c.1504A>T (p.Ser502Cys) c.2041A>T (p.Ser681Cys) c.1942A>T (p.Ser648Cys) c.1813A>T (p.Ser605Cys) c.1804A>T (p.Ser602Cys) c.1609A>T (p.Ser537Cys) | |
15 | g.50242313T>C | CA392376741 | HDC | c.1936A>G (p.Ser646Gly) c.1837A>G (p.Ser613Gly) n.1680A>G c.1699A>G (p.Ser567Gly) c.1504A>G (p.Ser502Gly) c.2041A>G (p.Ser681Gly) c.1942A>G (p.Ser648Gly) c.1813A>G (p.Ser605Gly) c.1804A>G (p.Ser602Gly) c.1609A>G (p.Ser537Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.50242313T>G | CA392376742 | HDC | c.1936A>C (p.Ser646Arg) c.1837A>C (p.Ser613Arg) n.1680A>C c.1699A>C (p.Ser567Arg) c.1504A>C (p.Ser502Arg) c.2041A>C (p.Ser681Arg) c.1942A>C (p.Ser648Arg) c.1813A>C (p.Ser605Arg) c.1804A>C (p.Ser602Arg) c.1609A>C (p.Ser537Arg) | |
15 | g.50242313T= | CA2176326546 | HDC | c.1936A= (p.Ser646=) c.1837A= (p.Ser613=) n.1680A= c.1699A= (p.Ser567=) c.1504A= (p.Ser502=) c.2041A= (p.Ser681=) c.1942A= (p.Ser648=) c.1813A= (p.Ser605=) c.1804A= (p.Ser602=) c.1609A= (p.Ser537=) | |
15 | g.50242314G>A | CA490313880 | HDC | c.1935C>T (p.Cys645=) c.1836C>T (p.Cys612=) n.1679C>T c.1698C>T (p.Cys566=) c.1503C>T (p.Cys501=) c.2040C>T (p.Cys680=) c.1941C>T (p.Cys647=) c.1812C>T (p.Cys604=) c.1803C>T (p.Cys601=) c.1608C>T (p.Cys536=) | |
15 | g.50242314G>C | CA392376743 | HDC | c.1935C>G (p.Cys645Trp) c.1836C>G (p.Cys612Trp) n.1679C>G c.1698C>G (p.Cys566Trp) c.1503C>G (p.Cys501Trp) c.2040C>G (p.Cys680Trp) c.1941C>G (p.Cys647Trp) c.1812C>G (p.Cys604Trp) c.1803C>G (p.Cys601Trp) c.1608C>G (p.Cys536Trp) | |
15 | g.50242314G>T | CA392376744 | HDC | c.1935C>A (p.Cys645Ter) c.1836C>A (p.Cys612Ter) n.1679C>A c.1698C>A (p.Cys566Ter) c.1503C>A (p.Cys501Ter) c.2040C>A (p.Cys680Ter) c.1941C>A (p.Cys647Ter) c.1812C>A (p.Cys604Ter) c.1803C>A (p.Cys601Ter) c.1608C>A (p.Cys536Ter) | |
15 | g.50242315C>A | CA392376747 | HDC | c.1934G>T (p.Cys645Phe) c.1835G>T (p.Cys612Phe) n.1678G>T c.1697G>T (p.Cys566Phe) c.1502G>T (p.Cys501Phe) c.2039G>T (p.Cys680Phe) c.1940G>T (p.Cys647Phe) c.1811G>T (p.Cys604Phe) c.1802G>T (p.Cys601Phe) c.1607G>T (p.Cys536Phe) | |
15 | g.50242315C= | CA2176326547 | HDC | c.1934G= (p.Cys645=) c.1835G= (p.Cys612=) n.1678G= c.1697G= (p.Cys566=) c.1502G= (p.Cys501=) c.2039G= (p.Cys680=) c.1940G= (p.Cys647=) c.1811G= (p.Cys604=) c.1802G= (p.Cys601=) c.1607G= (p.Cys536=) | |
15 | g.50242315C>G | CA392376746 | HDC | c.1934G>C (p.Cys645Ser) c.1835G>C (p.Cys612Ser) n.1678G>C c.1697G>C (p.Cys566Ser) c.1502G>C (p.Cys501Ser) c.2039G>C (p.Cys680Ser) c.1940G>C (p.Cys647Ser) c.1811G>C (p.Cys604Ser) c.1802G>C (p.Cys601Ser) c.1607G>C (p.Cys536Ser) | |
15 | g.50242315C>T | CA392376745 | HDC | c.1934G>A (p.Cys645Tyr) c.1835G>A (p.Cys612Tyr) n.1678G>A c.1697G>A (p.Cys566Tyr) c.1502G>A (p.Cys501Tyr) c.2039G>A (p.Cys680Tyr) c.1940G>A (p.Cys647Tyr) c.1811G>A (p.Cys604Tyr) c.1802G>A (p.Cys601Tyr) c.1607G>A (p.Cys536Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.50242316A>C | CA392376748 | HDC | c.1933T>G (p.Cys645Gly) c.1834T>G (p.Cys612Gly) n.1677T>G c.1696T>G (p.Cys566Gly) c.1501T>G (p.Cys501Gly) c.2038T>G (p.Cys680Gly) c.1939T>G (p.Cys647Gly) c.1810T>G (p.Cys604Gly) c.1801T>G (p.Cys601Gly) c.1606T>G (p.Cys536Gly) | |
15 | g.50242316A>G | CA392376750 | HDC | c.1933T>C (p.Cys645Arg) c.1834T>C (p.Cys612Arg) n.1677T>C c.1696T>C (p.Cys566Arg) c.1501T>C (p.Cys501Arg) c.2038T>C (p.Cys680Arg) c.1939T>C (p.Cys647Arg) c.1810T>C (p.Cys604Arg) c.1801T>C (p.Cys601Arg) c.1606T>C (p.Cys536Arg) | gnomAD v4 |
15 | g.50242316A>T | CA392376749 | HDC | c.1933T>A (p.Cys645Ser) c.1834T>A (p.Cys612Ser) n.1677T>A c.1696T>A (p.Cys566Ser) c.1501T>A (p.Cys501Ser) c.2038T>A (p.Cys680Ser) c.1939T>A (p.Cys647Ser) c.1810T>A (p.Cys604Ser) c.1801T>A (p.Cys601Ser) c.1606T>A (p.Cys536Ser) | |
15 | g.50242317T>A | CA392376751 | HDC | c.1932A>T (p.Glu644Asp) c.1833A>T (p.Glu611Asp) n.1676A>T c.1695A>T (p.Glu565Asp) c.1500A>T (p.Glu500Asp) c.2037A>T (p.Glu679Asp) c.1938A>T (p.Glu646Asp) c.1809A>T (p.Glu603Asp) c.1800A>T (p.Glu600Asp) c.1605A>T (p.Glu535Asp) | |
15 | g.50242317T>C | CA490313887 | HDC | c.1932A>G (p.Glu644=) c.1833A>G (p.Glu611=) n.1676A>G c.1695A>G (p.Glu565=) c.1500A>G (p.Glu500=) c.2037A>G (p.Glu679=) c.1938A>G (p.Glu646=) c.1809A>G (p.Glu603=) c.1800A>G (p.Glu600=) c.1605A>G (p.Glu535=) | |
15 | g.50242317T>G | CA7554471 | HDC | c.1932A>C (p.Glu644Asp) c.1833A>C (p.Glu611Asp) n.1676A>C c.1695A>C (p.Glu565Asp) c.1500A>C (p.Glu500Asp) c.2037A>C (p.Glu679Asp) c.1938A>C (p.Glu646Asp) c.1809A>C (p.Glu603Asp) c.1800A>C (p.Glu600Asp) c.1605A>C (p.Glu535Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.50242317T= | CA2176326548 | HDC | c.1932A= (p.Glu644=) c.1833A= (p.Glu611=) n.1676A= c.1695A= (p.Glu565=) c.1500A= (p.Glu500=) c.2037A= (p.Glu679=) c.1938A= (p.Glu646=) c.1809A= (p.Glu603=) c.1800A= (p.Glu600=) c.1605A= (p.Glu535=) | |
15 | g.50242318T>A | CA392376752 | HDC | c.1931A>T (p.Glu644Val) c.1832A>T (p.Glu611Val) n.1675A>T c.1694A>T (p.Glu565Val) c.1499A>T (p.Glu500Val) c.2036A>T (p.Glu679Val) c.1937A>T (p.Glu646Val) c.1808A>T (p.Glu603Val) c.1799A>T (p.Glu600Val) c.1604A>T (p.Glu535Val) | |
15 | g.50242318T>C | CA392376754 | HDC | c.1931A>G (p.Glu644Gly) c.1832A>G (p.Glu611Gly) n.1675A>G c.1694A>G (p.Glu565Gly) c.1499A>G (p.Glu500Gly) c.2036A>G (p.Glu679Gly) c.1937A>G (p.Glu646Gly) c.1808A>G (p.Glu603Gly) c.1799A>G (p.Glu600Gly) c.1604A>G (p.Glu535Gly) | |
15 | g.50242318T>G | CA392376753 | HDC | c.1931A>C (p.Glu644Ala) c.1832A>C (p.Glu611Ala) n.1675A>C c.1694A>C (p.Glu565Ala) c.1499A>C (p.Glu500Ala) c.2036A>C (p.Glu679Ala) c.1937A>C (p.Glu646Ala) c.1808A>C (p.Glu603Ala) c.1799A>C (p.Glu600Ala) c.1604A>C (p.Glu535Ala) | |
15 | g.50242319C>A | CA392376755 | HDC | c.1930G>T (p.Glu644Ter) c.1831G>T (p.Glu611Ter) n.1674G>T c.1693G>T (p.Glu565Ter) c.1498G>T (p.Glu500Ter) c.2035G>T (p.Glu679Ter) c.1936G>T (p.Glu646Ter) c.1807G>T (p.Glu603Ter) c.1798G>T (p.Glu600Ter) c.1603G>T (p.Glu535Ter) | |
15 | g.50242319C>G | CA392376756 | HDC | c.1930G>C (p.Glu644Gln) c.1831G>C (p.Glu611Gln) n.1674G>C c.1693G>C (p.Glu565Gln) c.1498G>C (p.Glu500Gln) c.2035G>C (p.Glu679Gln) c.1936G>C (p.Glu646Gln) c.1807G>C (p.Glu603Gln) c.1798G>C (p.Glu600Gln) c.1603G>C (p.Glu535Gln) | |
15 | g.50242319C>T | CA392376757 | HDC | c.1930G>A (p.Glu644Lys) c.1831G>A (p.Glu611Lys) n.1674G>A c.1693G>A (p.Glu565Lys) c.1498G>A (p.Glu500Lys) c.2035G>A (p.Glu679Lys) c.1936G>A (p.Glu646Lys) c.1807G>A (p.Glu603Lys) c.1798G>A (p.Glu600Lys) c.1603G>A (p.Glu535Lys) | |
15 | g.50242320A= | CA2176326549 | HDC | c.1929T= (p.Pro643=) c.1830T= (p.Pro610=) n.1673T= c.1692T= (p.Pro564=) c.1497T= (p.Pro499=) c.2034T= (p.Pro678=) c.1935T= (p.Pro645=) c.1806T= (p.Pro602=) c.1797T= (p.Pro599=) c.1602T= (p.Pro534=) | |
15 | g.50242320A>C | CA490313891 | HDC | c.1929T>G (p.Pro643=) c.1830T>G (p.Pro610=) n.1673T>G c.1692T>G (p.Pro564=) c.1497T>G (p.Pro499=) c.2034T>G (p.Pro678=) c.1935T>G (p.Pro645=) c.1806T>G (p.Pro602=) c.1797T>G (p.Pro599=) c.1602T>G (p.Pro534=) | |
15 | g.50242320A>G | CA7554472 | HDC | c.1929T>C (p.Pro643=) c.1830T>C (p.Pro610=) n.1673T>C c.1692T>C (p.Pro564=) c.1497T>C (p.Pro499=) c.2034T>C (p.Pro678=) c.1935T>C (p.Pro645=) c.1806T>C (p.Pro602=) c.1797T>C (p.Pro599=) c.1602T>C (p.Pro534=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.50242320A>T | CA490313894 | HDC | c.1929T>A (p.Pro643=) c.1830T>A (p.Pro610=) n.1673T>A c.1692T>A (p.Pro564=) c.1497T>A (p.Pro499=) c.2034T>A (p.Pro678=) c.1935T>A (p.Pro645=) c.1806T>A (p.Pro602=) c.1797T>A (p.Pro599=) c.1602T>A (p.Pro534=) | |
15 | g.50242321G>A | CA392376758 | HDC | c.1928C>T (p.Pro643Leu) c.1829C>T (p.Pro610Leu) n.1672C>T c.1691C>T (p.Pro564Leu) c.1496C>T (p.Pro499Leu) c.2033C>T (p.Pro678Leu) c.1934C>T (p.Pro645Leu) c.1805C>T (p.Pro602Leu) c.1796C>T (p.Pro599Leu) c.1601C>T (p.Pro534Leu) | |
15 | g.50242321G>C | CA392376759 | HDC | c.1928C>G (p.Pro643Arg) c.1829C>G (p.Pro610Arg) n.1672C>G c.1691C>G (p.Pro564Arg) c.1496C>G (p.Pro499Arg) c.2033C>G (p.Pro678Arg) c.1934C>G (p.Pro645Arg) c.1805C>G (p.Pro602Arg) c.1796C>G (p.Pro599Arg) c.1601C>G (p.Pro534Arg) | |
15 | g.50242321G>T | CA392376760 | HDC | c.1928C>A (p.Pro643His) c.1829C>A (p.Pro610His) n.1672C>A c.1691C>A (p.Pro564His) c.1496C>A (p.Pro499His) c.2033C>A (p.Pro678His) c.1934C>A (p.Pro645His) c.1805C>A (p.Pro602His) c.1796C>A (p.Pro599His) c.1601C>A (p.Pro534His) | |
15 | g.50242322G>A | CA392376761 | HDC | c.1927C>T (p.Pro643Ser) c.1828C>T (p.Pro610Ser) n.1671C>T c.1690C>T (p.Pro564Ser) c.1495C>T (p.Pro499Ser) c.2032C>T (p.Pro678Ser) c.1933C>T (p.Pro645Ser) c.1804C>T (p.Pro602Ser) c.1795C>T (p.Pro599Ser) c.1600C>T (p.Pro534Ser) | gnomAD v4 COSMIC |
15 | g.50242322G>C | CA392376762 | HDC | c.1927C>G (p.Pro643Ala) c.1828C>G (p.Pro610Ala) n.1671C>G c.1690C>G (p.Pro564Ala) c.1495C>G (p.Pro499Ala) c.2032C>G (p.Pro678Ala) c.1933C>G (p.Pro645Ala) c.1804C>G (p.Pro602Ala) c.1795C>G (p.Pro599Ala) c.1600C>G (p.Pro534Ala) | |
15 | g.50242322G>T | CA392376763 | HDC | c.1927C>A (p.Pro643Thr) c.1828C>A (p.Pro610Thr) n.1671C>A c.1690C>A (p.Pro564Thr) c.1495C>A (p.Pro499Thr) c.2032C>A (p.Pro678Thr) c.1933C>A (p.Pro645Thr) c.1804C>A (p.Pro602Thr) c.1795C>A (p.Pro599Thr) c.1600C>A (p.Pro534Thr) | |
15 | g.50242323A>C | CA392376764 | HDC | c.1926T>G (p.Phe642Leu) c.1827T>G (p.Phe609Leu) n.1670T>G c.1689T>G (p.Phe563Leu) c.1494T>G (p.Phe498Leu) c.2031T>G (p.Phe677Leu) c.1932T>G (p.Phe644Leu) c.1803T>G (p.Phe601Leu) c.1794T>G (p.Phe598Leu) c.1599T>G (p.Phe533Leu) | |
15 | g.50242323A>G | CA490313895 | HDC | c.1926T>C (p.Phe642=) c.1827T>C (p.Phe609=) n.1670T>C c.1689T>C (p.Phe563=) c.1494T>C (p.Phe498=) c.2031T>C (p.Phe677=) c.1932T>C (p.Phe644=) c.1803T>C (p.Phe601=) c.1794T>C (p.Phe598=) c.1599T>C (p.Phe533=) | |
15 | g.50242323A>T | CA392376765 | HDC | c.1926T>A (p.Phe642Leu) c.1827T>A (p.Phe609Leu) n.1670T>A c.1689T>A (p.Phe563Leu) c.1494T>A (p.Phe498Leu) c.2031T>A (p.Phe677Leu) c.1932T>A (p.Phe644Leu) c.1803T>A (p.Phe601Leu) c.1794T>A (p.Phe598Leu) c.1599T>A (p.Phe533Leu) | |
15 | g.50242324A>C | CA392376766 | HDC | c.1925T>G (p.Phe642Cys) c.1826T>G (p.Phe609Cys) n.1669T>G c.1688T>G (p.Phe563Cys) c.1493T>G (p.Phe498Cys) c.2030T>G (p.Phe677Cys) c.1931T>G (p.Phe644Cys) c.1802T>G (p.Phe601Cys) c.1793T>G (p.Phe598Cys) c.1598T>G (p.Phe533Cys) | |
15 | g.50242324A>G | CA392376768 | HDC | c.1925T>C (p.Phe642Ser) c.1826T>C (p.Phe609Ser) n.1669T>C c.1688T>C (p.Phe563Ser) c.1493T>C (p.Phe498Ser) c.2030T>C (p.Phe677Ser) c.1931T>C (p.Phe644Ser) c.1802T>C (p.Phe601Ser) c.1793T>C (p.Phe598Ser) c.1598T>C (p.Phe533Ser) | |
15 | g.50242324A>T | CA392376767 | HDC | c.1925T>A (p.Phe642Tyr) c.1826T>A (p.Phe609Tyr) n.1669T>A c.1688T>A (p.Phe563Tyr) c.1493T>A (p.Phe498Tyr) c.2030T>A (p.Phe677Tyr) c.1931T>A (p.Phe644Tyr) c.1802T>A (p.Phe601Tyr) c.1793T>A (p.Phe598Tyr) c.1598T>A (p.Phe533Tyr) | |
15 | g.50242325A>C | CA392376769 | HDC | c.1924T>G (p.Phe642Val) c.1825T>G (p.Phe609Val) n.1668T>G c.1687T>G (p.Phe563Val) c.1492T>G (p.Phe498Val) c.2029T>G (p.Phe677Val) c.1930T>G (p.Phe644Val) c.1801T>G (p.Phe601Val) c.1792T>G (p.Phe598Val) c.1597T>G (p.Phe533Val) | |
15 | g.50242325A>G | CA392376770 | HDC | c.1924T>C (p.Phe642Leu) c.1825T>C (p.Phe609Leu) n.1668T>C c.1687T>C (p.Phe563Leu) c.1492T>C (p.Phe498Leu) c.2029T>C (p.Phe677Leu) c.1930T>C (p.Phe644Leu) c.1801T>C (p.Phe601Leu) c.1792T>C (p.Phe598Leu) c.1597T>C (p.Phe533Leu) | |
15 | g.50242325A>T | CA392376771 | HDC | c.1924T>A (p.Phe642Ile) c.1825T>A (p.Phe609Ile) n.1668T>A c.1687T>A (p.Phe563Ile) c.1492T>A (p.Phe498Ile) c.2029T>A (p.Phe677Ile) c.1930T>A (p.Phe644Ile) c.1801T>A (p.Phe601Ile) c.1792T>A (p.Phe598Ile) c.1597T>A (p.Phe533Ile) | |
15 | g.50242326G>A | CA7554473 | HDC | c.1923C>T (p.Ser641=) c.1824C>T (p.Ser608=) n.1667C>T c.1686C>T (p.Ser562=) c.1491C>T (p.Ser497=) c.2028C>T (p.Ser676=) c.1929C>T (p.Ser643=) c.1800C>T (p.Ser600=) c.1791C>T (p.Ser597=) c.1596C>T (p.Ser532=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.50242326G>C | CA392376772 | HDC | c.1923C>G (p.Ser641Arg) c.1824C>G (p.Ser608Arg) n.1667C>G c.1686C>G (p.Ser562Arg) c.1491C>G (p.Ser497Arg) c.2028C>G (p.Ser676Arg) c.1929C>G (p.Ser643Arg) c.1800C>G (p.Ser600Arg) c.1791C>G (p.Ser597Arg) c.1596C>G (p.Ser532Arg) | |
15 | g.50242326G= | CA2176326550 | HDC | c.1923C= (p.Ser641=) c.1824C= (p.Ser608=) n.1667C= c.1686C= (p.Ser562=) c.1491C= (p.Ser497=) c.2028C= (p.Ser676=) c.1929C= (p.Ser643=) c.1800C= (p.Ser600=) c.1791C= (p.Ser597=) c.1596C= (p.Ser532=) | |
15 | g.50242326G>T | CA392376773 | HDC | c.1923C>A (p.Ser641Arg) c.1824C>A (p.Ser608Arg) n.1667C>A c.1686C>A (p.Ser562Arg) c.1491C>A (p.Ser497Arg) c.2028C>A (p.Ser676Arg) c.1929C>A (p.Ser643Arg) c.1800C>A (p.Ser600Arg) c.1791C>A (p.Ser597Arg) c.1596C>A (p.Ser532Arg) | gnomAD v4 |
15 | g.50242327C>A | CA392376774 | HDC | c.1922G>T (p.Ser641Ile) c.1823G>T (p.Ser608Ile) n.1666G>T c.1685G>T (p.Ser562Ile) c.1490G>T (p.Ser497Ile) c.2027G>T (p.Ser676Ile) c.1928G>T (p.Ser643Ile) c.1799G>T (p.Ser600Ile) c.1790G>T (p.Ser597Ile) c.1595G>T (p.Ser532Ile) | |
15 | g.50242327C>G | CA392376775 | HDC | c.1922G>C (p.Ser641Thr) c.1823G>C (p.Ser608Thr) n.1666G>C c.1685G>C (p.Ser562Thr) c.1490G>C (p.Ser497Thr) c.2027G>C (p.Ser676Thr) c.1928G>C (p.Ser643Thr) c.1799G>C (p.Ser600Thr) c.1790G>C (p.Ser597Thr) c.1595G>C (p.Ser532Thr) | |
15 | g.50242327C>T | CA392376776 | HDC | c.1922G>A (p.Ser641Asn) c.1823G>A (p.Ser608Asn) n.1666G>A c.1685G>A (p.Ser562Asn) c.1490G>A (p.Ser497Asn) c.2027G>A (p.Ser676Asn) c.1928G>A (p.Ser643Asn) c.1799G>A (p.Ser600Asn) c.1790G>A (p.Ser597Asn) c.1595G>A (p.Ser532Asn) | |
15 | g.50242328T>A | CA392376778 | HDC | c.1921A>T (p.Ser641Cys) c.1822A>T (p.Ser608Cys) n.1665A>T c.1684A>T (p.Ser562Cys) c.1489A>T (p.Ser497Cys) c.2026A>T (p.Ser676Cys) c.1927A>T (p.Ser643Cys) c.1798A>T (p.Ser600Cys) c.1789A>T (p.Ser597Cys) c.1594A>T (p.Ser532Cys) | |
15 | g.50242328T>C | CA392376779 | HDC | c.1921A>G (p.Ser641Gly) c.1822A>G (p.Ser608Gly) n.1665A>G c.1684A>G (p.Ser562Gly) c.1489A>G (p.Ser497Gly) c.2026A>G (p.Ser676Gly) c.1927A>G (p.Ser643Gly) c.1798A>G (p.Ser600Gly) c.1789A>G (p.Ser597Gly) c.1594A>G (p.Ser532Gly) | |
15 | g.50242328T>G | CA392376777 | HDC | c.1921A>C (p.Ser641Arg) c.1822A>C (p.Ser608Arg) n.1665A>C c.1684A>C (p.Ser562Arg) c.1489A>C (p.Ser497Arg) c.2026A>C (p.Ser676Arg) c.1927A>C (p.Ser643Arg) c.1798A>C (p.Ser600Arg) c.1789A>C (p.Ser597Arg) c.1594A>C (p.Ser532Arg) | |
15 | g.50242329G>A | CA490313906 | HDC | c.1920C>T (p.Pro640=) c.1821C>T (p.Pro607=) n.1664C>T c.1683C>T (p.Pro561=) c.1488C>T (p.Pro496=) c.2025C>T (p.Pro675=) c.1926C>T (p.Pro642=) c.1797C>T (p.Pro599=) c.1788C>T (p.Pro596=) c.1593C>T (p.Pro531=) | |
15 | g.50242329G>C | CA490313907 | HDC | c.1920C>G (p.Pro640=) c.1821C>G (p.Pro607=) n.1664C>G c.1683C>G (p.Pro561=) c.1488C>G (p.Pro496=) c.2025C>G (p.Pro675=) c.1926C>G (p.Pro642=) c.1797C>G (p.Pro599=) c.1788C>G (p.Pro596=) c.1593C>G (p.Pro531=) | |
15 | g.50242329G>T | CA490313908 | HDC | c.1920C>A (p.Pro640=) c.1821C>A (p.Pro607=) n.1664C>A c.1683C>A (p.Pro561=) c.1488C>A (p.Pro496=) c.2025C>A (p.Pro675=) c.1926C>A (p.Pro642=) c.1797C>A (p.Pro599=) c.1788C>A (p.Pro596=) c.1593C>A (p.Pro531=) | |
15 | g.50242330G>A | CA7554474 | HDC | c.1919C>T (p.Pro640Leu) c.1820C>T (p.Pro607Leu) n.1663C>T c.1682C>T (p.Pro561Leu) c.1487C>T (p.Pro496Leu) c.2024C>T (p.Pro675Leu) c.1925C>T (p.Pro642Leu) c.1796C>T (p.Pro599Leu) c.1787C>T (p.Pro596Leu) c.1592C>T (p.Pro531Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.50242330G>C | CA392376780 | HDC | c.1919C>G (p.Pro640Arg) c.1820C>G (p.Pro607Arg) n.1663C>G c.1682C>G (p.Pro561Arg) c.1487C>G (p.Pro496Arg) c.2024C>G (p.Pro675Arg) c.1925C>G (p.Pro642Arg) c.1796C>G (p.Pro599Arg) c.1787C>G (p.Pro596Arg) c.1592C>G (p.Pro531Arg) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.50242330G= | CA2176326551 | HDC | c.1919C= (p.Pro640=) c.1820C= (p.Pro607=) n.1663C= c.1682C= (p.Pro561=) c.1487C= (p.Pro496=) c.2024C= (p.Pro675=) c.1925C= (p.Pro642=) c.1796C= (p.Pro599=) c.1787C= (p.Pro596=) c.1592C= (p.Pro531=) | |
15 | g.50242330G>T | CA392376781 | HDC | c.1919C>A (p.Pro640His) c.1820C>A (p.Pro607His) n.1663C>A c.1682C>A (p.Pro561His) c.1487C>A (p.Pro496His) c.2024C>A (p.Pro675His) c.1925C>A (p.Pro642His) c.1796C>A (p.Pro599His) c.1787C>A (p.Pro596His) c.1592C>A (p.Pro531His) | |
15 | g.50242331G>A | CA392376782 | HDC | c.1918C>T (p.Pro640Ser) c.1819C>T (p.Pro607Ser) n.1662C>T c.1681C>T (p.Pro561Ser) c.1486C>T (p.Pro496Ser) c.2023C>T (p.Pro675Ser) c.1924C>T (p.Pro642Ser) c.1795C>T (p.Pro599Ser) c.1786C>T (p.Pro596Ser) c.1591C>T (p.Pro531Ser) | |
15 | g.50242331G>C | CA392376783 | HDC | c.1918C>G (p.Pro640Ala) c.1819C>G (p.Pro607Ala) n.1662C>G c.1681C>G (p.Pro561Ala) c.1486C>G (p.Pro496Ala) c.2023C>G (p.Pro675Ala) c.1924C>G (p.Pro642Ala) c.1795C>G (p.Pro599Ala) c.1786C>G (p.Pro596Ala) c.1591C>G (p.Pro531Ala) | |
15 | g.50242331G>T | CA392376784 | HDC | c.1918C>A (p.Pro640Thr) c.1819C>A (p.Pro607Thr) n.1662C>A c.1681C>A (p.Pro561Thr) c.1486C>A (p.Pro496Thr) c.2023C>A (p.Pro675Thr) c.1924C>A (p.Pro642Thr) c.1795C>A (p.Pro599Thr) c.1786C>A (p.Pro596Thr) c.1591C>A (p.Pro531Thr) | |
15 | g.50242332G>A | CA490313909 | HDC | c.1917C>T (p.Val639=) c.1818C>T (p.Val606=) n.1661C>T c.1680C>T (p.Val560=) c.1485C>T (p.Val495=) c.2022C>T (p.Val674=) c.1923C>T (p.Val641=) c.1794C>T (p.Val598=) c.1785C>T (p.Val595=) c.1590C>T (p.Val530=) | |
15 | g.50242332G>C | CA490313913 | HDC | c.1917C>G (p.Val639=) c.1818C>G (p.Val606=) n.1661C>G c.1680C>G (p.Val560=) c.1485C>G (p.Val495=) c.2022C>G (p.Val674=) c.1923C>G (p.Val641=) c.1794C>G (p.Val598=) c.1785C>G (p.Val595=) c.1590C>G (p.Val530=) | |
15 | g.50242332G>T | CA490313911 | HDC | c.1917C>A (p.Val639=) c.1818C>A (p.Val606=) n.1661C>A c.1680C>A (p.Val560=) c.1485C>A (p.Val495=) c.2022C>A (p.Val674=) c.1923C>A (p.Val641=) c.1794C>A (p.Val598=) c.1785C>A (p.Val595=) c.1590C>A (p.Val530=) | gnomAD v4 COSMIC |
15 | g.50242333A>C | CA392376785 | HDC | c.1916T>G (p.Val639Gly) c.1817T>G (p.Val606Gly) n.1660T>G c.1679T>G (p.Val560Gly) c.1484T>G (p.Val495Gly) c.2021T>G (p.Val674Gly) c.1922T>G (p.Val641Gly) c.1793T>G (p.Val598Gly) c.1784T>G (p.Val595Gly) c.1589T>G (p.Val530Gly) | |
15 | g.50242333A>G | CA392376786 | HDC | c.1916T>C (p.Val639Ala) c.1817T>C (p.Val606Ala) n.1660T>C c.1679T>C (p.Val560Ala) c.1484T>C (p.Val495Ala) c.2021T>C (p.Val674Ala) c.1922T>C (p.Val641Ala) c.1793T>C (p.Val598Ala) c.1784T>C (p.Val595Ala) c.1589T>C (p.Val530Ala) | |
15 | g.50242333A>T | CA392376787 | HDC | c.1916T>A (p.Val639Asp) c.1817T>A (p.Val606Asp) n.1660T>A c.1679T>A (p.Val560Asp) c.1484T>A (p.Val495Asp) c.2021T>A (p.Val674Asp) c.1922T>A (p.Val641Asp) c.1793T>A (p.Val598Asp) c.1784T>A (p.Val595Asp) c.1589T>A (p.Val530Asp) | |
15 | g.50242334C>A | CA392376788 | HDC | c.1915G>T (p.Val639Phe) c.1816G>T (p.Val606Phe) n.1659G>T c.1678G>T (p.Val560Phe) c.1483G>T (p.Val495Phe) c.2020G>T (p.Val674Phe) c.1921G>T (p.Val641Phe) c.1792G>T (p.Val598Phe) c.1783G>T (p.Val595Phe) c.1588G>T (p.Val530Phe) | COSMIC |
15 | g.50242334C= | CA2176326552 | HDC | c.1915G= (p.Val639=) c.1816G= (p.Val606=) n.1659G= c.1678G= (p.Val560=) c.1483G= (p.Val495=) c.2020G= (p.Val674=) c.1921G= (p.Val641=) c.1792G= (p.Val598=) c.1783G= (p.Val595=) c.1588G= (p.Val530=) | |
15 | g.50242334C>G | CA392376789 | HDC | c.1915G>C (p.Val639Leu) c.1816G>C (p.Val606Leu) n.1659G>C c.1678G>C (p.Val560Leu) c.1483G>C (p.Val495Leu) c.2020G>C (p.Val674Leu) c.1921G>C (p.Val641Leu) c.1792G>C (p.Val598Leu) c.1783G>C (p.Val595Leu) c.1588G>C (p.Val530Leu) | |
15 | g.50242334C>T | CA7554475 | HDC | c.1915G>A (p.Val639Ile) c.1816G>A (p.Val606Ile) n.1659G>A c.1678G>A (p.Val560Ile) c.1483G>A (p.Val495Ile) c.2020G>A (p.Val674Ile) c.1921G>A (p.Val641Ile) c.1792G>A (p.Val598Ile) c.1783G>A (p.Val595Ile) c.1588G>A (p.Val530Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.50242335G>A | CA490313917 | HDC | c.1914C>T (p.Ser638=) c.1815C>T (p.Ser605=) n.1658C>T c.1677C>T (p.Ser559=) c.1482C>T (p.Ser494=) c.2019C>T (p.Ser673=) c.1920C>T (p.Ser640=) c.1791C>T (p.Ser597=) c.1782C>T (p.Ser594=) c.1587C>T (p.Ser529=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.50242335G>C | CA392376791 | HDC | c.1914C>G (p.Ser638Arg) c.1815C>G (p.Ser605Arg) n.1658C>G c.1677C>G (p.Ser559Arg) c.1482C>G (p.Ser494Arg) c.2019C>G (p.Ser673Arg) c.1920C>G (p.Ser640Arg) c.1791C>G (p.Ser597Arg) c.1782C>G (p.Ser594Arg) c.1587C>G (p.Ser529Arg) | |
15 | g.50242335G= | CA2176326553 | HDC | c.1914C= (p.Ser638=) c.1815C= (p.Ser605=) n.1658C= c.1677C= (p.Ser559=) c.1482C= (p.Ser494=) c.2019C= (p.Ser673=) c.1920C= (p.Ser640=) c.1791C= (p.Ser597=) c.1782C= (p.Ser594=) c.1587C= (p.Ser529=) | |
15 | g.50242335G>T | CA392376790 | HDC | c.1914C>A (p.Ser638Arg) c.1815C>A (p.Ser605Arg) n.1658C>A c.1677C>A (p.Ser559Arg) c.1482C>A (p.Ser494Arg) c.2019C>A (p.Ser673Arg) c.1920C>A (p.Ser640Arg) c.1791C>A (p.Ser597Arg) c.1782C>A (p.Ser594Arg) c.1587C>A (p.Ser529Arg) | |
15 | g.50242336C>A | CA392376792 | HDC | c.1913G>T (p.Ser638Ile) c.1814G>T (p.Ser605Ile) n.1657G>T c.1676G>T (p.Ser559Ile) c.1481G>T (p.Ser494Ile) c.2018G>T (p.Ser673Ile) c.1919G>T (p.Ser640Ile) c.1790G>T (p.Ser597Ile) c.1781G>T (p.Ser594Ile) c.1586G>T (p.Ser529Ile) | |
15 | g.50242336C= | CA2176326554 | HDC | c.1913G= (p.Ser638=) c.1814G= (p.Ser605=) n.1657G= c.1676G= (p.Ser559=) c.1481G= (p.Ser494=) c.2018G= (p.Ser673=) c.1919G= (p.Ser640=) c.1790G= (p.Ser597=) c.1781G= (p.Ser594=) c.1586G= (p.Ser529=) | |
15 | g.50242336C>G | CA392376793 | HDC | c.1913G>C (p.Ser638Thr) c.1814G>C (p.Ser605Thr) n.1657G>C c.1676G>C (p.Ser559Thr) c.1481G>C (p.Ser494Thr) c.2018G>C (p.Ser673Thr) c.1919G>C (p.Ser640Thr) c.1790G>C (p.Ser597Thr) c.1781G>C (p.Ser594Thr) c.1586G>C (p.Ser529Thr) | |
15 | g.50242336C>T | CA392376794 | HDC | c.1913G>A (p.Ser638Asn) c.1814G>A (p.Ser605Asn) n.1657G>A c.1676G>A (p.Ser559Asn) c.1481G>A (p.Ser494Asn) c.2018G>A (p.Ser673Asn) c.1919G>A (p.Ser640Asn) c.1790G>A (p.Ser597Asn) c.1781G>A (p.Ser594Asn) c.1586G>A (p.Ser529Asn) | dbSNP |
15 | g.50242336_50242337insAGAGCATGGACTGGGTTTTGGCCCTCACT | CA2804113957 | HDC | c.1912_1913insAGTGAGGGCCAAAACCCAGTCCATGCTCT (p.Ser638LysfsTer2) c.1813_1814insAGTGAGGGCCAAAACCCAGTCCATGCTCT (p.Ser605LysfsTer2) n.1656_1657insAGTGAGGGCCAAAACCCAGTCCATGCTCT c.1675_1676insAGTGAGGGCCAAAACCCAGTCCATGCTCT (p.Ser559LysfsTer2) c.1480_1481insAGTGAGGGCCAAAACCCAGTCCATGCTCT (p.Ser494LysfsTer2) c.2017_2018insAGTGAGGGCCAAAACCCAGTCCATGCTCT (p.Ser673LysfsTer2) c.1918_1919insAGTGAGGGCCAAAACCCAGTCCATGCTCT (p.Ser640LysfsTer2) c.1789_1790insAGTGAGGGCCAAAACCCAGTCCATGCTCT (p.Ser597LysfsTer2) c.1780_1781insAGTGAGGGCCAAAACCCAGTCCATGCTCT (p.Ser594LysfsTer2) c.1585_1586insAGTGAGGGCCAAAACCCAGTCCATGCTCT (p.Ser529LysfsTer2) | |
15 | g.50242337T>A | CA392376795 | HDC | c.1912A>T (p.Ser638Cys) c.1813A>T (p.Ser605Cys) n.1656A>T c.1675A>T (p.Ser559Cys) c.1480A>T (p.Ser494Cys) c.2017A>T (p.Ser673Cys) c.1918A>T (p.Ser640Cys) c.1789A>T (p.Ser597Cys) c.1780A>T (p.Ser594Cys) c.1585A>T (p.Ser529Cys) | |
15 | g.50242337T>C | CA392376796 | HDC | c.1912A>G (p.Ser638Gly) c.1813A>G (p.Ser605Gly) n.1656A>G c.1675A>G (p.Ser559Gly) c.1480A>G (p.Ser494Gly) c.2017A>G (p.Ser673Gly) c.1918A>G (p.Ser640Gly) c.1789A>G (p.Ser597Gly) c.1780A>G (p.Ser594Gly) c.1585A>G (p.Ser529Gly) | gnomAD v4 |
15 | g.50242337T>G | CA392376797 | HDC | c.1912A>C (p.Ser638Arg) c.1813A>C (p.Ser605Arg) n.1656A>C c.1675A>C (p.Ser559Arg) c.1480A>C (p.Ser494Arg) c.2017A>C (p.Ser673Arg) c.1918A>C (p.Ser640Arg) c.1789A>C (p.Ser597Arg) c.1780A>C (p.Ser594Arg) c.1585A>C (p.Ser529Arg) | |
15 | g.50242338G>A | CA490313918 | HDC | c.1911C>T (p.Tyr637=) c.1812C>T (p.Tyr604=) n.1655C>T c.1674C>T (p.Tyr558=) c.1479C>T (p.Tyr493=) c.2016C>T (p.Tyr672=) c.1917C>T (p.Tyr639=) c.1788C>T (p.Tyr596=) c.1779C>T (p.Tyr593=) c.1584C>T (p.Tyr528=) | |
15 | g.50242338G>C | CA392376798 | HDC | c.1911C>G (p.Tyr637Ter) c.1812C>G (p.Tyr604Ter) n.1655C>G c.1674C>G (p.Tyr558Ter) c.1479C>G (p.Tyr493Ter) c.2016C>G (p.Tyr672Ter) c.1917C>G (p.Tyr639Ter) c.1788C>G (p.Tyr596Ter) c.1779C>G (p.Tyr593Ter) c.1584C>G (p.Tyr528Ter) | |
15 | g.50242338G>T | CA392376799 | HDC | c.1911C>A (p.Tyr637Ter) c.1812C>A (p.Tyr604Ter) n.1655C>A c.1674C>A (p.Tyr558Ter) c.1479C>A (p.Tyr493Ter) c.2016C>A (p.Tyr672Ter) c.1917C>A (p.Tyr639Ter) c.1788C>A (p.Tyr596Ter) c.1779C>A (p.Tyr593Ter) c.1584C>A (p.Tyr528Ter) | |
15 | g.50242339T>A | CA392376800 | HDC | c.1910A>T (p.Tyr637Phe) c.1811A>T (p.Tyr604Phe) n.1654A>T c.1673A>T (p.Tyr558Phe) c.1478A>T (p.Tyr493Phe) c.2015A>T (p.Tyr672Phe) c.1916A>T (p.Tyr639Phe) c.1787A>T (p.Tyr596Phe) c.1778A>T (p.Tyr593Phe) c.1583A>T (p.Tyr528Phe) | |
15 | g.50242339T>C | CA392376801 | HDC | c.1910A>G (p.Tyr637Cys) c.1811A>G (p.Tyr604Cys) n.1654A>G c.1673A>G (p.Tyr558Cys) c.1478A>G (p.Tyr493Cys) c.2015A>G (p.Tyr672Cys) c.1916A>G (p.Tyr639Cys) c.1787A>G (p.Tyr596Cys) c.1778A>G (p.Tyr593Cys) c.1583A>G (p.Tyr528Cys) | gnomAD v4 |
15 | g.50242339T>G | CA392376802 | HDC | c.1910A>C (p.Tyr637Ser) c.1811A>C (p.Tyr604Ser) n.1654A>C c.1673A>C (p.Tyr558Ser) c.1478A>C (p.Tyr493Ser) c.2015A>C (p.Tyr672Ser) c.1916A>C (p.Tyr639Ser) c.1787A>C (p.Tyr596Ser) c.1778A>C (p.Tyr593Ser) c.1583A>C (p.Tyr528Ser) | |
15 | g.50242340A>C | CA392376803 | HDC | c.1909T>G (p.Tyr637Asp) c.1810T>G (p.Tyr604Asp) n.1653T>G c.1672T>G (p.Tyr558Asp) c.1477T>G (p.Tyr493Asp) c.2014T>G (p.Tyr672Asp) c.1915T>G (p.Tyr639Asp) c.1786T>G (p.Tyr596Asp) c.1777T>G (p.Tyr593Asp) c.1582T>G (p.Tyr528Asp) | |
15 | g.50242340A>G | CA392376804 | HDC | c.1909T>C (p.Tyr637His) c.1810T>C (p.Tyr604His) n.1653T>C c.1672T>C (p.Tyr558His) c.1477T>C (p.Tyr493His) c.2014T>C (p.Tyr672His) c.1915T>C (p.Tyr639His) c.1786T>C (p.Tyr596His) c.1777T>C (p.Tyr593His) c.1582T>C (p.Tyr528His) | |
15 | g.50242340A>T | CA392376805 | HDC | c.1909T>A (p.Tyr637Asn) c.1810T>A (p.Tyr604Asn) n.1653T>A c.1672T>A (p.Tyr558Asn) c.1477T>A (p.Tyr493Asn) c.2014T>A (p.Tyr672Asn) c.1915T>A (p.Tyr639Asn) c.1786T>A (p.Tyr596Asn) c.1777T>A (p.Tyr593Asn) c.1582T>A (p.Tyr528Asn) | |
15 | g.50242341G>A | CA490313920 | HDC | c.1908C>T (p.Phe636=) c.1809C>T (p.Phe603=) n.1652C>T c.1671C>T (p.Phe557=) c.1476C>T (p.Phe492=) c.2013C>T (p.Phe671=) c.1914C>T (p.Phe638=) c.1785C>T (p.Phe595=) c.1776C>T (p.Phe592=) c.1581C>T (p.Phe527=) | gnomAD v4 |
15 | g.50242341G>C | CA392376807 | HDC | c.1908C>G (p.Phe636Leu) c.1809C>G (p.Phe603Leu) n.1652C>G c.1671C>G (p.Phe557Leu) c.1476C>G (p.Phe492Leu) c.2013C>G (p.Phe671Leu) c.1914C>G (p.Phe638Leu) c.1785C>G (p.Phe595Leu) c.1776C>G (p.Phe592Leu) c.1581C>G (p.Phe527Leu) | dbSNP gnomAD v4 |
15 | g.50242341G= | CA2176326555 | HDC | c.1908C= (p.Phe636=) c.1809C= (p.Phe603=) n.1652C= c.1671C= (p.Phe557=) c.1476C= (p.Phe492=) c.2013C= (p.Phe671=) c.1914C= (p.Phe638=) c.1785C= (p.Phe595=) c.1776C= (p.Phe592=) c.1581C= (p.Phe527=) | |
15 | g.50242341G>T | CA392376806 | HDC | c.1908C>A (p.Phe636Leu) c.1809C>A (p.Phe603Leu) n.1652C>A c.1671C>A (p.Phe557Leu) c.1476C>A (p.Phe492Leu) c.2013C>A (p.Phe671Leu) c.1914C>A (p.Phe638Leu) c.1785C>A (p.Phe595Leu) c.1776C>A (p.Phe592Leu) c.1581C>A (p.Phe527Leu) | dbSNP gnomAD v2 |
15 | g.50242342A>C | CA392376808 | HDC | c.1907T>G (p.Phe636Cys) c.1808T>G (p.Phe603Cys) n.1651T>G c.1670T>G (p.Phe557Cys) c.1475T>G (p.Phe492Cys) c.2012T>G (p.Phe671Cys) c.1913T>G (p.Phe638Cys) c.1784T>G (p.Phe595Cys) c.1775T>G (p.Phe592Cys) c.1580T>G (p.Phe527Cys) | |
15 | g.50242342A>G | CA392376810 | HDC | c.1907T>C (p.Phe636Ser) c.1808T>C (p.Phe603Ser) n.1651T>C c.1670T>C (p.Phe557Ser) c.1475T>C (p.Phe492Ser) c.2012T>C (p.Phe671Ser) c.1913T>C (p.Phe638Ser) c.1784T>C (p.Phe595Ser) c.1775T>C (p.Phe592Ser) c.1580T>C (p.Phe527Ser) | |
15 | g.50242342A>T | CA392376809 | HDC | c.1907T>A (p.Phe636Tyr) c.1808T>A (p.Phe603Tyr) n.1651T>A c.1670T>A (p.Phe557Tyr) c.1475T>A (p.Phe492Tyr) c.2012T>A (p.Phe671Tyr) c.1913T>A (p.Phe638Tyr) c.1784T>A (p.Phe595Tyr) c.1775T>A (p.Phe592Tyr) c.1580T>A (p.Phe527Tyr) | |
15 | g.50242343A>C | CA392376811 | HDC | c.1906T>G (p.Phe636Val) c.1807T>G (p.Phe603Val) n.1650T>G c.1669T>G (p.Phe557Val) c.1474T>G (p.Phe492Val) c.2011T>G (p.Phe671Val) c.1912T>G (p.Phe638Val) c.1783T>G (p.Phe595Val) c.1774T>G (p.Phe592Val) c.1579T>G (p.Phe527Val) | |
15 | g.50242343A>G | CA392376812 | HDC | c.1906T>C (p.Phe636Leu) c.1807T>C (p.Phe603Leu) n.1650T>C c.1669T>C (p.Phe557Leu) c.1474T>C (p.Phe492Leu) c.2011T>C (p.Phe671Leu) c.1912T>C (p.Phe638Leu) c.1783T>C (p.Phe595Leu) c.1774T>C (p.Phe592Leu) c.1579T>C (p.Phe527Leu) | |
15 | g.50242343A>T | CA392376813 | HDC | c.1906T>A (p.Phe636Ile) c.1807T>A (p.Phe603Ile) n.1650T>A c.1669T>A (p.Phe557Ile) c.1474T>A (p.Phe492Ile) c.2011T>A (p.Phe671Ile) c.1912T>A (p.Phe638Ile) c.1783T>A (p.Phe595Ile) c.1774T>A (p.Phe592Ile) c.1579T>A (p.Phe527Ile) | |
15 | g.50242344T>A | CA392376814 | HDC | c.1905A>T (p.Lys635Asn) c.1806A>T (p.Lys602Asn) n.1649A>T c.1668A>T (p.Lys556Asn) c.1473A>T (p.Lys491Asn) c.2010A>T (p.Lys670Asn) c.1911A>T (p.Lys637Asn) c.1782A>T (p.Lys594Asn) c.1773A>T (p.Lys591Asn) c.1578A>T (p.Lys526Asn) | |
15 | g.50242344T>C | CA490313927 | HDC | c.1905A>G (p.Lys635=) c.1806A>G (p.Lys602=) n.1649A>G c.1668A>G (p.Lys556=) c.1473A>G (p.Lys491=) c.2010A>G (p.Lys670=) c.1911A>G (p.Lys637=) c.1782A>G (p.Lys594=) c.1773A>G (p.Lys591=) c.1578A>G (p.Lys526=) | |
15 | g.50242344T>G | CA392376815 | HDC | c.1905A>C (p.Lys635Asn) c.1806A>C (p.Lys602Asn) n.1649A>C c.1668A>C (p.Lys556Asn) c.1473A>C (p.Lys491Asn) c.2010A>C (p.Lys670Asn) c.1911A>C (p.Lys637Asn) c.1782A>C (p.Lys594Asn) c.1773A>C (p.Lys591Asn) c.1578A>C (p.Lys526Asn) | |
15 | g.50242345T>A | CA392376816 | HDC | c.1904A>T (p.Lys635Ile) c.1805A>T (p.Lys602Ile) n.1648A>T c.1667A>T (p.Lys556Ile) c.1472A>T (p.Lys491Ile) c.2009A>T (p.Lys670Ile) c.1910A>T (p.Lys637Ile) c.1781A>T (p.Lys594Ile) c.1772A>T (p.Lys591Ile) c.1577A>T (p.Lys526Ile) | |
15 | g.50242345T>C | CA392376817 | HDC | c.1904A>G (p.Lys635Arg) c.1805A>G (p.Lys602Arg) n.1648A>G c.1667A>G (p.Lys556Arg) c.1472A>G (p.Lys491Arg) c.2009A>G (p.Lys670Arg) c.1910A>G (p.Lys637Arg) c.1781A>G (p.Lys594Arg) c.1772A>G (p.Lys591Arg) c.1577A>G (p.Lys526Arg) | |
15 | g.50242345T>G | CA392376818 | HDC | c.1904A>C (p.Lys635Thr) c.1805A>C (p.Lys602Thr) n.1648A>C c.1667A>C (p.Lys556Thr) c.1472A>C (p.Lys491Thr) c.2009A>C (p.Lys670Thr) c.1910A>C (p.Lys637Thr) c.1781A>C (p.Lys594Thr) c.1772A>C (p.Lys591Thr) c.1577A>C (p.Lys526Thr) | |
15 | g.50242346T>A | CA392376819 | HDC | c.1903A>T (p.Lys635Ter) c.1804A>T (p.Lys602Ter) n.1647A>T c.1666A>T (p.Lys556Ter) c.1471A>T (p.Lys491Ter) c.2008A>T (p.Lys670Ter) c.1909A>T (p.Lys637Ter) c.1780A>T (p.Lys594Ter) c.1771A>T (p.Lys591Ter) c.1576A>T (p.Lys526Ter) | |
15 | g.50242346T>C | CA392376820 | HDC | c.1903A>G (p.Lys635Glu) c.1804A>G (p.Lys602Glu) n.1647A>G c.1666A>G (p.Lys556Glu) c.1471A>G (p.Lys491Glu) c.2008A>G (p.Lys670Glu) c.1909A>G (p.Lys637Glu) c.1780A>G (p.Lys594Glu) c.1771A>G (p.Lys591Glu) c.1576A>G (p.Lys526Glu) | |
15 | g.50242346T>G | CA392376821 | HDC | c.1903A>C (p.Lys635Gln) c.1804A>C (p.Lys602Gln) n.1647A>C c.1666A>C (p.Lys556Gln) c.1471A>C (p.Lys491Gln) c.2008A>C (p.Lys670Gln) c.1909A>C (p.Lys637Gln) c.1780A>C (p.Lys594Gln) c.1771A>C (p.Lys591Gln) c.1576A>C (p.Lys526Gln) | |
15 | g.50242347G>A | CA490313929 | HDC | c.1902C>T (p.Ile634=) c.1803C>T (p.Ile601=) n.1646C>T c.1665C>T (p.Ile555=) c.1470C>T (p.Ile490=) c.2007C>T (p.Ile669=) c.1908C>T (p.Ile636=) c.1779C>T (p.Ile593=) c.1770C>T (p.Ile590=) c.1575C>T (p.Ile525=) | gnomAD v4 |
15 | g.50242347G>C | CA392376822 | HDC | c.1902C>G (p.Ile634Met) c.1803C>G (p.Ile601Met) n.1646C>G c.1665C>G (p.Ile555Met) c.1470C>G (p.Ile490Met) c.2007C>G (p.Ile669Met) c.1908C>G (p.Ile636Met) c.1779C>G (p.Ile593Met) c.1770C>G (p.Ile590Met) c.1575C>G (p.Ile525Met) | |
15 | g.50242347G>T | CA490313928 | HDC | c.1902C>A (p.Ile634=) c.1803C>A (p.Ile601=) n.1646C>A c.1665C>A (p.Ile555=) c.1470C>A (p.Ile490=) c.2007C>A (p.Ile669=) c.1908C>A (p.Ile636=) c.1779C>A (p.Ile593=) c.1770C>A (p.Ile590=) c.1575C>A (p.Ile525=) |