Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.55954247_55954248delinsCT | CA2038177502 | PMEL | c.1952_1953delinsAG (p.Glu651=) c.1973_1974delinsAG (p.Glu658=) c.839_840delinsAG (p.Glu280=) c.1694_1695delinsAG (p.Glu565=) c.1847_1848delinsAG (p.Glu616=) c.1826_1827delinsAG (p.Glu609=) | |
12 | g.55954248del | CA2038177503 | PMEL | c.1952del (p.Glu651GlyfsTer19) c.1973del (p.Glu658GlyfsTer19) c.839del (p.Glu280GlyfsTer?) c.1694del (p.Glu565GlyfsTer19) c.1847del (p.Glu616GlyfsTer19) c.1826del (p.Glu609GlyfsTer19) | dbSNP |
12 | g.55954248T>A | CA385214633 | PMEL | c.1952A>T (p.Glu651Val) c.1973A>T (p.Glu658Val) c.839A>T (p.Glu280Val) c.1694A>T (p.Glu565Val) c.1847A>T (p.Glu616Val) c.1826A>T (p.Glu609Val) | |
12 | g.55954248T>C | CA385214634 | PMEL | c.1952A>G (p.Glu651Gly) c.1973A>G (p.Glu658Gly) c.839A>G (p.Glu280Gly) c.1694A>G (p.Glu565Gly) c.1847A>G (p.Glu616Gly) c.1826A>G (p.Glu609Gly) | |
12 | g.55954248T>G | CA385214635 | PMEL | c.1952A>C (p.Glu651Ala) c.1973A>C (p.Glu658Ala) c.839A>C (p.Glu280Ala) c.1694A>C (p.Glu565Ala) c.1847A>C (p.Glu616Ala) c.1826A>C (p.Glu609Ala) | |
12 | g.55954249C>A | CA385214636 | PMEL | c.1951G>T (p.Glu651Ter) c.1972G>T (p.Glu658Ter) c.838G>T (p.Glu280Ter) c.1693G>T (p.Glu565Ter) c.1846G>T (p.Glu616Ter) c.1825G>T (p.Glu609Ter) | gnomAD v4 |
12 | g.55954249C= | CA2038177507 | PMEL | c.1951G= (p.Glu651=) c.1972G= (p.Glu658=) c.838G= (p.Glu280=) c.1693G= (p.Glu565=) c.1846G= (p.Glu616=) c.1825G= (p.Glu609=) | |
12 | g.55954249C>G | CA385214637 | PMEL | c.1951G>C (p.Glu651Gln) c.1972G>C (p.Glu658Gln) c.838G>C (p.Glu280Gln) c.1693G>C (p.Glu565Gln) c.1846G>C (p.Glu616Gln) c.1825G>C (p.Glu609Gln) | |
12 | g.55954249C>T | CA237587780 | PMEL | c.1951G>A (p.Glu651Lys) c.1972G>A (p.Glu658Lys) c.838G>A (p.Glu280Lys) c.1693G>A (p.Glu565Lys) c.1846G>A (p.Glu616Lys) c.1825G>A (p.Glu609Lys) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.55954250A>C | CA480178296 | PMEL | c.1950T>G (p.Gly650=) c.1971T>G (p.Gly657=) c.837T>G (p.Gly279=) c.1692T>G (p.Gly564=) c.1845T>G (p.Gly615=) c.1824T>G (p.Gly608=) | |
12 | g.55954250A>G | CA480178298 | PMEL | c.1950T>C (p.Gly650=) c.1971T>C (p.Gly657=) c.837T>C (p.Gly279=) c.1692T>C (p.Gly564=) c.1845T>C (p.Gly615=) c.1824T>C (p.Gly608=) | |
12 | g.55954250A>T | CA480178300 | PMEL | c.1950T>A (p.Gly650=) c.1971T>A (p.Gly657=) c.837T>A (p.Gly279=) c.1692T>A (p.Gly564=) c.1845T>A (p.Gly615=) c.1824T>A (p.Gly608=) | |
12 | g.55954251C>A | CA385214638 | PMEL | c.1949G>T (p.Gly650Val) c.1970G>T (p.Gly657Val) c.836G>T (p.Gly279Val) c.1691G>T (p.Gly564Val) c.1844G>T (p.Gly615Val) c.1823G>T (p.Gly608Val) | |
12 | g.55954251C>G | CA385214639 | PMEL | c.1949G>C (p.Gly650Ala) c.1970G>C (p.Gly657Ala) c.836G>C (p.Gly279Ala) c.1691G>C (p.Gly564Ala) c.1844G>C (p.Gly615Ala) c.1823G>C (p.Gly608Ala) | |
12 | g.55954251C>T | CA385214640 | PMEL | c.1949G>A (p.Gly650Asp) c.1970G>A (p.Gly657Asp) c.836G>A (p.Gly279Asp) c.1691G>A (p.Gly564Asp) c.1844G>A (p.Gly615Asp) c.1823G>A (p.Gly608Asp) | |
12 | g.55954252del | CA2619237850 | PMEL | c.1949del (p.Gly650ValfsTer20) c.1970del (p.Gly657ValfsTer20) c.836del (p.Gly279ValfsTer?) c.1691del (p.Gly564ValfsTer20) c.1844del (p.Gly615ValfsTer20) c.1823del (p.Gly608ValfsTer20) | gnomAD v4 |
12 | g.55954252C>A | CA385214641 | PMEL | c.1948G>T (p.Gly650Cys) c.1969G>T (p.Gly657Cys) c.835G>T (p.Gly279Cys) c.1690G>T (p.Gly564Cys) c.1843G>T (p.Gly615Cys) c.1822G>T (p.Gly608Cys) | |
12 | g.55954252C>G | CA385214642 | PMEL | c.1948G>C (p.Gly650Arg) c.1969G>C (p.Gly657Arg) c.835G>C (p.Gly279Arg) c.1690G>C (p.Gly564Arg) c.1843G>C (p.Gly615Arg) c.1822G>C (p.Gly608Arg) | |
12 | g.55954252C>T | CA385214643 | PMEL | c.1948G>A (p.Gly650Ser) c.1969G>A (p.Gly657Ser) c.835G>A (p.Gly279Ser) c.1690G>A (p.Gly564Ser) c.1843G>A (p.Gly615Ser) c.1822G>A (p.Gly608Ser) | |
12 | g.55954253A= | CA2038177511 | PMEL | c.1947T= (p.Ile649=) c.1968T= (p.Ile656=) c.834T= (p.Ile278=) c.1689T= (p.Ile563=) c.1842T= (p.Ile614=) c.1821T= (p.Ile607=) | |
12 | g.55954253A>C | CA385214644 | PMEL | c.1947T>G (p.Ile649Met) c.1968T>G (p.Ile656Met) c.834T>G (p.Ile278Met) c.1689T>G (p.Ile563Met) c.1842T>G (p.Ile614Met) c.1821T>G (p.Ile607Met) | |
12 | g.55954253A>G | CA6619805 | PMEL | c.1947T>C (p.Ile649=) c.1968T>C (p.Ile656=) c.834T>C (p.Ile278=) c.1689T>C (p.Ile563=) c.1842T>C (p.Ile614=) c.1821T>C (p.Ile607=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.55954253A>T | CA480178307 | PMEL | c.1947T>A (p.Ile649=) c.1968T>A (p.Ile656=) c.834T>A (p.Ile278=) c.1689T>A (p.Ile563=) c.1842T>A (p.Ile614=) c.1821T>A (p.Ile607=) | |
12 | g.55954254A>C | CA385214645 | PMEL | c.1946T>G (p.Ile649Ser) c.1967T>G (p.Ile656Ser) c.833T>G (p.Ile278Ser) c.1688T>G (p.Ile563Ser) c.1841T>G (p.Ile614Ser) c.1820T>G (p.Ile607Ser) | |
12 | g.55954254A>G | CA385214646 | PMEL | c.1946T>C (p.Ile649Thr) c.1967T>C (p.Ile656Thr) c.833T>C (p.Ile278Thr) c.1688T>C (p.Ile563Thr) c.1841T>C (p.Ile614Thr) c.1820T>C (p.Ile607Thr) | gnomAD v4 |
12 | g.55954254A>T | CA385214647 | PMEL | c.1946T>A (p.Ile649Asn) c.1967T>A (p.Ile656Asn) c.833T>A (p.Ile278Asn) c.1688T>A (p.Ile563Asn) c.1841T>A (p.Ile614Asn) c.1820T>A (p.Ile607Asn) | |
12 | g.55954255T>A | CA385214648 | PMEL | c.1945A>T (p.Ile649Phe) c.1966A>T (p.Ile656Phe) c.832A>T (p.Ile278Phe) c.1687A>T (p.Ile563Phe) c.1840A>T (p.Ile614Phe) c.1819A>T (p.Ile607Phe) | |
12 | g.55954255T>C | CA385214649 | PMEL | c.1945A>G (p.Ile649Val) c.1966A>G (p.Ile656Val) c.832A>G (p.Ile278Val) c.1687A>G (p.Ile563Val) c.1840A>G (p.Ile614Val) c.1819A>G (p.Ile607Val) | gnomAD v4 |
12 | g.55954255T>G | CA385214650 | PMEL | c.1945A>C (p.Ile649Leu) c.1966A>C (p.Ile656Leu) c.832A>C (p.Ile278Leu) c.1687A>C (p.Ile563Leu) c.1840A>C (p.Ile614Leu) c.1819A>C (p.Ile607Leu) | dbSNP |
12 | g.55954255T= | CA2038177515 | PMEL | c.1945A= (p.Ile649=) c.1966A= (p.Ile656=) c.832A= (p.Ile278=) c.1687A= (p.Ile563=) c.1840A= (p.Ile614=) c.1819A= (p.Ile607=) | |
12 | g.55954256G>A | CA480178315 | PMEL | c.1944C>T (p.Pro648=) c.1965C>T (p.Pro655=) c.831C>T (p.Pro277=) c.1686C>T (p.Pro562=) c.1839C>T (p.Pro613=) c.1818C>T (p.Pro606=) | |
12 | g.55954256G>C | CA480178316 | PMEL | c.1944C>G (p.Pro648=) c.1965C>G (p.Pro655=) c.831C>G (p.Pro277=) c.1686C>G (p.Pro562=) c.1839C>G (p.Pro613=) c.1818C>G (p.Pro606=) | gnomAD v4 |
12 | g.55954256G>T | CA480178318 | PMEL | c.1944C>A (p.Pro648=) c.1965C>A (p.Pro655=) c.831C>A (p.Pro277=) c.1686C>A (p.Pro562=) c.1839C>A (p.Pro613=) c.1818C>A (p.Pro606=) | |
12 | g.55954258dup | CA2840376180 | PMEL | c.1944dup (p.Ile649HisfsTer3) c.1965dup (p.Ile656HisfsTer3) c.831dup (p.Ile278HisfsTer3) c.1686dup (p.Ile563HisfsTer3) c.1839dup (p.Ile614HisfsTer3) c.1818dup (p.Ile607HisfsTer3) | |
12 | g.55954257G>A | CA6619806 | PMEL | c.1943C>T (p.Pro648Leu) c.1964C>T (p.Pro655Leu) c.830C>T (p.Pro277Leu) c.1685C>T (p.Pro562Leu) c.1838C>T (p.Pro613Leu) c.1817C>T (p.Pro606Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.55954257G>C | CA385214651 | PMEL | c.1943C>G (p.Pro648Arg) c.1964C>G (p.Pro655Arg) c.830C>G (p.Pro277Arg) c.1685C>G (p.Pro562Arg) c.1838C>G (p.Pro613Arg) c.1817C>G (p.Pro606Arg) | |
12 | g.55954257G= | CA2038177522 | PMEL | c.1943C= (p.Pro648=) c.1964C= (p.Pro655=) c.830C= (p.Pro277=) c.1685C= (p.Pro562=) c.1838C= (p.Pro613=) c.1817C= (p.Pro606=) | |
12 | g.55954257G>T | CA385214652 | PMEL | c.1943C>A (p.Pro648His) c.1964C>A (p.Pro655His) c.830C>A (p.Pro277His) c.1685C>A (p.Pro562His) c.1838C>A (p.Pro613His) c.1817C>A (p.Pro606His) | |
12 | g.55954258G>A | CA385214653 | PMEL | c.1942C>T (p.Pro648Ser) c.1963C>T (p.Pro655Ser) c.829C>T (p.Pro277Ser) c.1684C>T (p.Pro562Ser) c.1837C>T (p.Pro613Ser) c.1816C>T (p.Pro606Ser) | |
12 | g.55954258G>C | CA385214654 | PMEL | c.1942C>G (p.Pro648Ala) c.1963C>G (p.Pro655Ala) c.829C>G (p.Pro277Ala) c.1684C>G (p.Pro562Ala) c.1837C>G (p.Pro613Ala) c.1816C>G (p.Pro606Ala) | |
12 | g.55954258G>T | CA385214655 | PMEL | c.1942C>A (p.Pro648Thr) c.1963C>A (p.Pro655Thr) c.829C>A (p.Pro277Thr) c.1684C>A (p.Pro562Thr) c.1837C>A (p.Pro613Thr) c.1816C>A (p.Pro606Thr) | |
12 | g.55954259A>C | CA385214656 | PMEL | c.1941T>G (p.Cys647Trp) c.1962T>G (p.Cys654Trp) c.828T>G (p.Cys276Trp) c.1683T>G (p.Cys561Trp) c.1836T>G (p.Cys612Trp) c.1815T>G (p.Cys605Trp) | |
12 | g.55954259A>G | CA480178327 | PMEL | c.1941T>C (p.Cys647=) c.1962T>C (p.Cys654=) c.828T>C (p.Cys276=) c.1683T>C (p.Cys561=) c.1836T>C (p.Cys612=) c.1815T>C (p.Cys605=) | |
12 | g.55954259A>T | CA385214657 | PMEL | c.1941T>A (p.Cys647Ter) c.1962T>A (p.Cys654Ter) c.828T>A (p.Cys276Ter) c.1683T>A (p.Cys561Ter) c.1836T>A (p.Cys612Ter) c.1815T>A (p.Cys605Ter) | gnomAD v3 gnomAD v4 |
12 | g.55954260C>A | CA385214660 | PMEL | c.1940G>T (p.Cys647Phe) c.1961G>T (p.Cys654Phe) c.827G>T (p.Cys276Phe) c.1682G>T (p.Cys561Phe) c.1835G>T (p.Cys612Phe) c.1814G>T (p.Cys605Phe) | |
12 | g.55954260C>G | CA385214658 | PMEL | c.1940G>C (p.Cys647Ser) c.1961G>C (p.Cys654Ser) c.827G>C (p.Cys276Ser) c.1682G>C (p.Cys561Ser) c.1835G>C (p.Cys612Ser) c.1814G>C (p.Cys605Ser) | |
12 | g.55954260C>T | CA385214659 | PMEL | c.1940G>A (p.Cys647Tyr) c.1961G>A (p.Cys654Tyr) c.827G>A (p.Cys276Tyr) c.1682G>A (p.Cys561Tyr) c.1835G>A (p.Cys612Tyr) c.1814G>A (p.Cys605Tyr) | |
12 | g.55954261A>C | CA385214661 | PMEL | c.1939T>G (p.Cys647Gly) c.1960T>G (p.Cys654Gly) c.826T>G (p.Cys276Gly) c.1681T>G (p.Cys561Gly) c.1834T>G (p.Cys612Gly) c.1813T>G (p.Cys605Gly) | |
12 | g.55954261A>G | CA385214662 | PMEL | c.1939T>C (p.Cys647Arg) c.1960T>C (p.Cys654Arg) c.826T>C (p.Cys276Arg) c.1681T>C (p.Cys561Arg) c.1834T>C (p.Cys612Arg) c.1813T>C (p.Cys605Arg) | |
12 | g.55954261A>T | CA385214663 | PMEL | c.1939T>A (p.Cys647Ser) c.1960T>A (p.Cys654Ser) c.826T>A (p.Cys276Ser) c.1681T>A (p.Cys561Ser) c.1834T>A (p.Cys612Ser) c.1813T>A (p.Cys605Ser) | |
12 | g.55954262A>C | CA480178337 | PMEL | c.1938T>G (p.Ser646=) c.1959T>G (p.Ser653=) c.825T>G (p.Ser275=) c.1680T>G (p.Ser560=) c.1833T>G (p.Ser611=) c.1812T>G (p.Ser604=) | |
12 | g.55954262A>G | CA480178339 | PMEL | c.1938T>C (p.Ser646=) c.1959T>C (p.Ser653=) c.825T>C (p.Ser275=) c.1680T>C (p.Ser560=) c.1833T>C (p.Ser611=) c.1812T>C (p.Ser604=) | |
12 | g.55954262A>T | CA480178341 | PMEL | c.1938T>A (p.Ser646=) c.1959T>A (p.Ser653=) c.825T>A (p.Ser275=) c.1680T>A (p.Ser560=) c.1833T>A (p.Ser611=) c.1812T>A (p.Ser604=) | |
12 | g.55954263G>A | CA385214664 | PMEL | c.1937C>T (p.Ser646Phe) c.1958C>T (p.Ser653Phe) c.824C>T (p.Ser275Phe) c.1679C>T (p.Ser560Phe) c.1832C>T (p.Ser611Phe) c.1811C>T (p.Ser604Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.55954263G>C | CA385214665 | PMEL | c.1937C>G (p.Ser646Cys) c.1958C>G (p.Ser653Cys) c.824C>G (p.Ser275Cys) c.1679C>G (p.Ser560Cys) c.1832C>G (p.Ser611Cys) c.1811C>G (p.Ser604Cys) | |
12 | g.55954263G= | CA2038177527 | PMEL | c.1937C= (p.Ser646=) c.1958C= (p.Ser653=) c.824C= (p.Ser275=) c.1679C= (p.Ser560=) c.1832C= (p.Ser611=) c.1811C= (p.Ser604=) | |
12 | g.55954263G>T | CA385214666 | PMEL | c.1937C>A (p.Ser646Tyr) c.1958C>A (p.Ser653Tyr) c.824C>A (p.Ser275Tyr) c.1679C>A (p.Ser560Tyr) c.1832C>A (p.Ser611Tyr) c.1811C>A (p.Ser604Tyr) | |
12 | g.55954264A>C | CA385214669 | PMEL | c.1936T>G (p.Ser646Ala) c.1957T>G (p.Ser653Ala) c.823T>G (p.Ser275Ala) c.1678T>G (p.Ser560Ala) c.1831T>G (p.Ser611Ala) c.1810T>G (p.Ser604Ala) | |
12 | g.55954264A>G | CA385214667 | PMEL | c.1936T>C (p.Ser646Pro) c.1957T>C (p.Ser653Pro) c.823T>C (p.Ser275Pro) c.1678T>C (p.Ser560Pro) c.1831T>C (p.Ser611Pro) c.1810T>C (p.Ser604Pro) | gnomAD v4 |
12 | g.55954264A>T | CA385214668 | PMEL | c.1936T>A (p.Ser646Thr) c.1957T>A (p.Ser653Thr) c.823T>A (p.Ser275Thr) c.1678T>A (p.Ser560Thr) c.1831T>A (p.Ser611Thr) c.1810T>A (p.Ser604Thr) | |
12 | g.55954266_55954268del | CA2619237879 | PMEL | c.1934_1936del (p.Cys645del) c.1955_1957del (p.Cys652del) c.821_823del (p.Cys274del) c.1676_1678del (p.Cys559del) c.1829_1831del (p.Cys610del) c.1808_1810del (p.Cys603del) | gnomAD v4 |
12 | g.55954265G>A | CA480178349 | PMEL | c.1935C>T (p.Cys645=) c.1956C>T (p.Cys652=) c.822C>T (p.Cys274=) c.1677C>T (p.Cys559=) c.1830C>T (p.Cys610=) c.1809C>T (p.Cys603=) | |
12 | g.55954265G>C | CA6619807 | PMEL | c.1935C>G (p.Cys645Trp) c.1956C>G (p.Cys652Trp) c.822C>G (p.Cys274Trp) c.1677C>G (p.Cys559Trp) c.1830C>G (p.Cys610Trp) c.1809C>G (p.Cys603Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.55954265G= | CA2038177532 | PMEL | c.1935C= (p.Cys645=) c.1956C= (p.Cys652=) c.822C= (p.Cys274=) c.1677C= (p.Cys559=) c.1830C= (p.Cys610=) c.1809C= (p.Cys603=) | |
12 | g.55954265G>T | CA385214670 | PMEL | c.1935C>A (p.Cys645Ter) c.1956C>A (p.Cys652Ter) c.822C>A (p.Cys274Ter) c.1677C>A (p.Cys559Ter) c.1830C>A (p.Cys610Ter) c.1809C>A (p.Cys603Ter) | |
12 | g.55954266C>A | CA385214671 | PMEL | c.1934G>T (p.Cys645Phe) c.1955G>T (p.Cys652Phe) c.821G>T (p.Cys274Phe) c.1676G>T (p.Cys559Phe) c.1829G>T (p.Cys610Phe) c.1808G>T (p.Cys603Phe) | |
12 | g.55954266C>G | CA385214672 | PMEL | c.1934G>C (p.Cys645Ser) c.1955G>C (p.Cys652Ser) c.821G>C (p.Cys274Ser) c.1676G>C (p.Cys559Ser) c.1829G>C (p.Cys610Ser) c.1808G>C (p.Cys603Ser) | |
12 | g.55954266C>T | CA385214673 | PMEL | c.1934G>A (p.Cys645Tyr) c.1955G>A (p.Cys652Tyr) c.821G>A (p.Cys274Tyr) c.1676G>A (p.Cys559Tyr) c.1829G>A (p.Cys610Tyr) c.1808G>A (p.Cys603Tyr) | COSMIC COSMIC |
12 | g.55954267A= | CA2038177540 | PMEL | c.1933T= (p.Cys645=) c.1954T= (p.Cys652=) c.820T= (p.Cys274=) c.1675T= (p.Cys559=) c.1828T= (p.Cys610=) c.1807T= (p.Cys603=) | |
12 | g.55954267A>C | CA385214675 | PMEL | c.1933T>G (p.Cys645Gly) c.1954T>G (p.Cys652Gly) c.820T>G (p.Cys274Gly) c.1675T>G (p.Cys559Gly) c.1828T>G (p.Cys610Gly) c.1807T>G (p.Cys603Gly) | |
12 | g.55954267A>G | CA385214674 | PMEL | c.1933T>C (p.Cys645Arg) c.1954T>C (p.Cys652Arg) c.820T>C (p.Cys274Arg) c.1675T>C (p.Cys559Arg) c.1828T>C (p.Cys610Arg) c.1807T>C (p.Cys603Arg) | |
12 | g.55954267A>T | CA6619808 | PMEL | c.1933T>A (p.Cys645Ser) c.1954T>A (p.Cys652Ser) c.820T>A (p.Cys274Ser) c.1675T>A (p.Cys559Ser) c.1828T>A (p.Cys610Ser) c.1807T>A (p.Cys603Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.55954268G>A | CA480178359 | PMEL | c.1932C>T (p.Phe644=) c.1953C>T (p.Phe651=) c.819C>T (p.Phe273=) c.1674C>T (p.Phe558=) c.1827C>T (p.Phe609=) c.1806C>T (p.Phe602=) | |
12 | g.55954268G>C | CA385214676 | PMEL | c.1932C>G (p.Phe644Leu) c.1953C>G (p.Phe651Leu) c.819C>G (p.Phe273Leu) c.1674C>G (p.Phe558Leu) c.1827C>G (p.Phe609Leu) c.1806C>G (p.Phe602Leu) | |
12 | g.55954268G>T | CA385214677 | PMEL | c.1932C>A (p.Phe644Leu) c.1953C>A (p.Phe651Leu) c.819C>A (p.Phe273Leu) c.1674C>A (p.Phe558Leu) c.1827C>A (p.Phe609Leu) c.1806C>A (p.Phe602Leu) | gnomAD v4 |
12 | g.55954268_55954269delinsGA | CA2038177544 | PMEL | c.1931_1932delinsTC (p.Phe644=) c.1952_1953delinsTC (p.Phe651=) c.818_819delinsTC (p.Phe273=) c.1673_1674delinsTC (p.Phe558=) c.1826_1827delinsTC (p.Phe609=) c.1805_1806delinsTC (p.Phe602=) | |
12 | g.55954269A>C | CA385214678 | PMEL | c.1931T>G (p.Phe644Cys) c.1952T>G (p.Phe651Cys) c.818T>G (p.Phe273Cys) c.1673T>G (p.Phe558Cys) c.1826T>G (p.Phe609Cys) c.1805T>G (p.Phe602Cys) | |
12 | g.55954269A>G | CA385214679 | PMEL | c.1931T>C (p.Phe644Ser) c.1952T>C (p.Phe651Ser) c.818T>C (p.Phe273Ser) c.1673T>C (p.Phe558Ser) c.1826T>C (p.Phe609Ser) c.1805T>C (p.Phe602Ser) | |
12 | g.55954269A>T | CA385214680 | PMEL | c.1931T>A (p.Phe644Tyr) c.1952T>A (p.Phe651Tyr) c.818T>A (p.Phe273Tyr) c.1673T>A (p.Phe558Tyr) c.1826T>A (p.Phe609Tyr) c.1805T>A (p.Phe602Tyr) | |
12 | g.55954270dup | CA2840376182 | PMEL | c.1931dup (p.Cys645LeufsTer7) c.1952dup (p.Cys652LeufsTer7) c.818dup (p.Cys274LeufsTer7) c.1673dup (p.Cys559LeufsTer7) c.1826dup (p.Cys610LeufsTer7) c.1805dup (p.Cys603LeufsTer7) | |
12 | g.55954270del | CA605248679 | PMEL | c.1931del (p.Phe644SerfsTer26) c.1952del (p.Phe651SerfsTer26) c.818del (p.Phe273SerfsTer?) c.1673del (p.Phe558SerfsTer26) c.1826del (p.Phe609SerfsTer26) c.1805del (p.Phe602SerfsTer26) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.55954270A= | CA2038177551 | PMEL | c.1930T= (p.Phe644=) c.1951T= (p.Phe651=) c.817T= (p.Phe273=) c.1672T= (p.Phe558=) c.1825T= (p.Phe609=) c.1804T= (p.Phe602=) | |
12 | g.55954270A>C | CA385214681 | PMEL | c.1930T>G (p.Phe644Val) c.1951T>G (p.Phe651Val) c.817T>G (p.Phe273Val) c.1672T>G (p.Phe558Val) c.1825T>G (p.Phe609Val) c.1804T>G (p.Phe602Val) | dbSNP gnomAD v4 |
12 | g.55954270A>G | CA385214682 | PMEL | c.1930T>C (p.Phe644Leu) c.1951T>C (p.Phe651Leu) c.817T>C (p.Phe273Leu) c.1672T>C (p.Phe558Leu) c.1825T>C (p.Phe609Leu) c.1804T>C (p.Phe602Leu) | |
12 | g.55954270A>T | CA385214683 | PMEL | c.1930T>A (p.Phe644Ile) c.1951T>A (p.Phe651Ile) c.817T>A (p.Phe273Ile) c.1672T>A (p.Phe558Ile) c.1825T>A (p.Phe609Ile) c.1804T>A (p.Phe602Ile) | |
12 | g.55954271G>A | CA480178369 | PMEL | c.1929C>T (p.Ile643=) c.1950C>T (p.Ile650=) c.816C>T (p.Ile272=) c.1671C>T (p.Ile557=) c.1824C>T (p.Ile608=) c.1803C>T (p.Ile601=) | |
12 | g.55954271G>C | CA385214684 | PMEL | c.1929C>G (p.Ile643Met) c.1950C>G (p.Ile650Met) c.816C>G (p.Ile272Met) c.1671C>G (p.Ile557Met) c.1824C>G (p.Ile608Met) c.1803C>G (p.Ile601Met) | |
12 | g.55954271G>T | CA480178372 | PMEL | c.1929C>A (p.Ile643=) c.1950C>A (p.Ile650=) c.816C>A (p.Ile272=) c.1671C>A (p.Ile557=) c.1824C>A (p.Ile608=) c.1803C>A (p.Ile601=) | |
12 | g.55954272A= | CA2038177556 | PMEL | c.1928T= (p.Ile643=) c.1949T= (p.Ile650=) c.815T= (p.Ile272=) c.1670T= (p.Ile557=) c.1823T= (p.Ile608=) c.1802T= (p.Ile601=) | |
12 | g.55954272A>C | CA385214685 | PMEL | c.1928T>G (p.Ile643Ser) c.1949T>G (p.Ile650Ser) c.815T>G (p.Ile272Ser) c.1670T>G (p.Ile557Ser) c.1823T>G (p.Ile608Ser) c.1802T>G (p.Ile601Ser) | |
12 | g.55954272A>G | CA385214686 | PMEL | c.1928T>C (p.Ile643Thr) c.1949T>C (p.Ile650Thr) c.815T>C (p.Ile272Thr) c.1670T>C (p.Ile557Thr) c.1823T>C (p.Ile608Thr) c.1802T>C (p.Ile601Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.55954272A>T | CA6619809 | PMEL | c.1928T>A (p.Ile643Asn) c.1949T>A (p.Ile650Asn) c.815T>A (p.Ile272Asn) c.1670T>A (p.Ile557Asn) c.1823T>A (p.Ile608Asn) c.1802T>A (p.Ile601Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.55954273T>A | CA385214687 | PMEL | c.1927A>T (p.Ile643Phe) c.1948A>T (p.Ile650Phe) c.814A>T (p.Ile272Phe) c.1669A>T (p.Ile557Phe) c.1822A>T (p.Ile608Phe) c.1801A>T (p.Ile601Phe) | |
12 | g.55954273T>C | CA385214689 | PMEL | c.1927A>G (p.Ile643Val) c.1948A>G (p.Ile650Val) c.814A>G (p.Ile272Val) c.1669A>G (p.Ile557Val) c.1822A>G (p.Ile608Val) c.1801A>G (p.Ile601Val) | |
12 | g.55954273T>G | CA385214688 | PMEL | c.1927A>C (p.Ile643Leu) c.1948A>C (p.Ile650Leu) c.814A>C (p.Ile272Leu) c.1669A>C (p.Ile557Leu) c.1822A>C (p.Ile608Leu) c.1801A>C (p.Ile601Leu) | |
12 | g.55954274G>A | CA480178379 | PMEL | c.1926C>T (p.Arg642=) c.1947C>T (p.Arg649=) c.813C>T (p.Arg271=) c.1668C>T (p.Arg556=) c.1821C>T (p.Arg607=) c.1800C>T (p.Arg600=) | gnomAD v4 |
12 | g.55954274G>C | CA480178381 | PMEL | c.1926C>G (p.Arg642=) c.1947C>G (p.Arg649=) c.813C>G (p.Arg271=) c.1668C>G (p.Arg556=) c.1821C>G (p.Arg607=) c.1800C>G (p.Arg600=) | |
12 | g.55954274G>T | CA480178382 | PMEL | c.1926C>A (p.Arg642=) c.1947C>A (p.Arg649=) c.813C>A (p.Arg271=) c.1668C>A (p.Arg556=) c.1821C>A (p.Arg607=) c.1800C>A (p.Arg600=) | |
12 | g.55954275C>A | CA385214690 | PMEL | c.1925G>T (p.Arg642Leu) c.1946G>T (p.Arg649Leu) c.812G>T (p.Arg271Leu) c.1667G>T (p.Arg556Leu) c.1820G>T (p.Arg607Leu) c.1799G>T (p.Arg600Leu) | |
12 | g.55954275C= | CA2038177560 | PMEL | c.1925G= (p.Arg642=) c.1946G= (p.Arg649=) c.812G= (p.Arg271=) c.1667G= (p.Arg556=) c.1820G= (p.Arg607=) c.1799G= (p.Arg600=) | |
12 | g.55954275C>G | CA385214691 | PMEL | c.1925G>C (p.Arg642Pro) c.1946G>C (p.Arg649Pro) c.812G>C (p.Arg271Pro) c.1667G>C (p.Arg556Pro) c.1820G>C (p.Arg607Pro) c.1799G>C (p.Arg600Pro) | |
12 | g.55954275C>T | CA237587810 | PMEL | c.1925G>A (p.Arg642His) c.1946G>A (p.Arg649His) c.812G>A (p.Arg271His) c.1667G>A (p.Arg556His) c.1820G>A (p.Arg607His) c.1799G>A (p.Arg600His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
12 | g.55954276G>A | CA6619810 | PMEL | c.1924C>T (p.Arg642Cys) c.1945C>T (p.Arg649Cys) n.503C>T c.811C>T (p.Arg271Cys) c.1666C>T (p.Arg556Cys) c.1819C>T (p.Arg607Cys) c.1798C>T (p.Arg600Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
12 | g.55954276G>C | CA385214692 | PMEL | c.1924C>G (p.Arg642Gly) c.1945C>G (p.Arg649Gly) n.503C>G c.811C>G (p.Arg271Gly) c.1666C>G (p.Arg556Gly) c.1819C>G (p.Arg607Gly) c.1798C>G (p.Arg600Gly) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.55954276G= | CA2038177565 | PMEL | c.1924C= (p.Arg642=) c.1945C= (p.Arg649=) n.503C= c.811C= (p.Arg271=) c.1666C= (p.Arg556=) c.1819C= (p.Arg607=) c.1798C= (p.Arg600=) | |
12 | g.55954276G>T | CA385214693 | PMEL | c.1924C>A (p.Arg642Ser) c.1945C>A (p.Arg649Ser) n.503C>A c.811C>A (p.Arg271Ser) c.1666C>A (p.Arg556Ser) c.1819C>A (p.Arg607Ser) c.1798C>A (p.Arg600Ser) | |
12 | g.55954279dup | CA2840376185 | PMEL | c.1924dup (p.Arg642ProfsTer10) c.1945dup (p.Arg649ProfsTer10) c.811dup (p.Arg271ProfsTer10) c.1666dup (p.Arg556ProfsTer10) c.1819dup (p.Arg607ProfsTer10) c.1798dup (p.Arg600ProfsTer10) | |
12 | g.55954279del | CA2840376186 | PMEL | c.1924del (p.Arg642AlafsTer28) c.1945del (p.Arg649AlafsTer28) n.503del c.811del (p.Arg271AlafsTer?) c.1666del (p.Arg556AlafsTer28) c.1819del (p.Arg607AlafsTer28) c.1798del (p.Arg600AlafsTer28) | |
12 | g.55954277G>A | CA480178389 | PMEL | c.1923C>T (p.Pro641=) c.1944C>T (p.Pro648=) n.502C>T c.810C>T (p.Pro270=) c.1665C>T (p.Pro555=) c.1818C>T (p.Pro606=) c.1797C>T (p.Pro599=) | |
12 | g.55954277G>C | CA480178391 | PMEL | c.1923C>G (p.Pro641=) c.1944C>G (p.Pro648=) n.502C>G c.810C>G (p.Pro270=) c.1665C>G (p.Pro555=) c.1818C>G (p.Pro606=) c.1797C>G (p.Pro599=) | |
12 | g.55954277G>T | CA480178393 | PMEL | c.1923C>A (p.Pro641=) c.1944C>A (p.Pro648=) n.502C>A c.810C>A (p.Pro270=) c.1665C>A (p.Pro555=) c.1818C>A (p.Pro606=) c.1797C>A (p.Pro599=) | |
12 | g.55954278G>A | CA385214694 | PMEL | c.1922C>T (p.Pro641Leu) c.1943C>T (p.Pro648Leu) n.501C>T c.809C>T (p.Pro270Leu) c.1664C>T (p.Pro555Leu) c.1817C>T (p.Pro606Leu) c.1796C>T (p.Pro599Leu) | |
12 | g.55954278G>C | CA385214695 | PMEL | c.1922C>G (p.Pro641Arg) c.1943C>G (p.Pro648Arg) n.501C>G c.809C>G (p.Pro270Arg) c.1664C>G (p.Pro555Arg) c.1817C>G (p.Pro606Arg) c.1796C>G (p.Pro599Arg) | |
12 | g.55954278G= | CA2038177570 | PMEL | c.1922C= (p.Pro641=) c.1943C= (p.Pro648=) n.501C= c.809C= (p.Pro270=) c.1664C= (p.Pro555=) c.1817C= (p.Pro606=) c.1796C= (p.Pro599=) | |
12 | g.55954278G>T | CA385214696 | PMEL | c.1922C>A (p.Pro641His) c.1943C>A (p.Pro648His) n.501C>A c.809C>A (p.Pro270His) c.1664C>A (p.Pro555His) c.1817C>A (p.Pro606His) c.1796C>A (p.Pro599His) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.55954279G>A | CA385214697 | PMEL | c.1921C>T (p.Pro641Ser) c.1942C>T (p.Pro648Ser) n.500C>T c.808C>T (p.Pro270Ser) c.1663C>T (p.Pro555Ser) c.1816C>T (p.Pro606Ser) c.1795C>T (p.Pro599Ser) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.55954279G>C | CA385214698 | PMEL | c.1921C>G (p.Pro641Ala) c.1942C>G (p.Pro648Ala) n.500C>G c.808C>G (p.Pro270Ala) c.1663C>G (p.Pro555Ala) c.1816C>G (p.Pro606Ala) c.1795C>G (p.Pro599Ala) | |
12 | g.55954279G= | CA2038177574 | PMEL | c.1921C= (p.Pro641=) c.1942C= (p.Pro648=) n.500C= c.808C= (p.Pro270=) c.1663C= (p.Pro555=) c.1816C= (p.Pro606=) c.1795C= (p.Pro599=) | |
12 | g.55954279G>T | CA385214699 | PMEL | c.1921C>A (p.Pro641Thr) c.1942C>A (p.Pro648Thr) n.500C>A c.808C>A (p.Pro270Thr) c.1663C>A (p.Pro555Thr) c.1816C>A (p.Pro606Thr) c.1795C>A (p.Pro599Thr) | dbSNP gnomAD v4 COSMIC COSMIC |
12 | g.55954280T>A | CA480178401 | PMEL | c.1920A>T (p.Leu640=) c.1941A>T (p.Leu647=) n.499A>T c.807A>T (p.Leu269=) c.1662A>T (p.Leu554=) c.1815A>T (p.Leu605=) c.1794A>T (p.Leu598=) | |
12 | g.55954280T>C | CA480178405 | PMEL | c.1920A>G (p.Leu640=) c.1941A>G (p.Leu647=) n.499A>G c.807A>G (p.Leu269=) c.1662A>G (p.Leu554=) c.1815A>G (p.Leu605=) c.1794A>G (p.Leu598=) | |
12 | g.55954280T>G | CA480178403 | PMEL | c.1920A>C (p.Leu640=) c.1941A>C (p.Leu647=) n.499A>C c.807A>C (p.Leu269=) c.1662A>C (p.Leu554=) c.1815A>C (p.Leu605=) c.1794A>C (p.Leu598=) | dbSNP gnomAD v4 |
12 | g.55954280T= | CA2038177580 | PMEL | c.1920A= (p.Leu640=) c.1941A= (p.Leu647=) n.499A= c.807A= (p.Leu269=) c.1662A= (p.Leu554=) c.1815A= (p.Leu605=) c.1794A= (p.Leu598=) | |
12 | g.55954281A>C | CA385214700 | PMEL | c.1919T>G (p.Leu640Arg) c.1940T>G (p.Leu647Arg) n.498T>G c.806T>G (p.Leu269Arg) c.1661T>G (p.Leu554Arg) c.1814T>G (p.Leu605Arg) c.1793T>G (p.Leu598Arg) | |
12 | g.55954281A>G | CA385214701 | PMEL | c.1919T>C (p.Leu640Pro) c.1940T>C (p.Leu647Pro) n.498T>C c.806T>C (p.Leu269Pro) c.1661T>C (p.Leu554Pro) c.1814T>C (p.Leu605Pro) c.1793T>C (p.Leu598Pro) | gnomAD v4 |
12 | g.55954281A>T | CA385214702 | PMEL | c.1919T>A (p.Leu640Gln) c.1940T>A (p.Leu647Gln) n.498T>A c.806T>A (p.Leu269Gln) c.1661T>A (p.Leu554Gln) c.1814T>A (p.Leu605Gln) c.1793T>A (p.Leu598Gln) | |
12 | g.55954282G>A | CA237587811 | PMEL | c.1918C>T (p.Leu640=) c.1939C>T (p.Leu647=) n.497C>T c.805C>T (p.Leu269=) c.1660C>T (p.Leu554=) c.1813C>T (p.Leu605=) c.1792C>T (p.Leu598=) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.55954282G>C | CA385214703 | PMEL | c.1918C>G (p.Leu640Val) c.1939C>G (p.Leu647Val) n.497C>G c.805C>G (p.Leu269Val) c.1660C>G (p.Leu554Val) c.1813C>G (p.Leu605Val) c.1792C>G (p.Leu598Val) | |
12 | g.55954282G= | CA2038177581 | PMEL | c.1918C= (p.Leu640=) c.1939C= (p.Leu647=) n.497C= c.805C= (p.Leu269=) c.1660C= (p.Leu554=) c.1813C= (p.Leu605=) c.1792C= (p.Leu598=) | |
12 | g.55954282G>T | CA385214704 | PMEL | c.1918C>A (p.Leu640Ile) c.1939C>A (p.Leu647Ile) n.497C>A c.805C>A (p.Leu269Ile) c.1660C>A (p.Leu554Ile) c.1813C>A (p.Leu605Ile) c.1792C>A (p.Leu598Ile) | |
12 | g.55954283A>C | CA480178413 | PMEL | c.1917T>G (p.Arg639=) c.1938T>G (p.Arg646=) n.496T>G c.804T>G (p.Arg268=) c.1659T>G (p.Arg553=) c.1812T>G (p.Arg604=) c.1791T>G (p.Arg597=) | |
12 | g.55954283A>G | CA480178417 | PMEL | c.1917T>C (p.Arg639=) c.1938T>C (p.Arg646=) n.496T>C c.804T>C (p.Arg268=) c.1659T>C (p.Arg553=) c.1812T>C (p.Arg604=) c.1791T>C (p.Arg597=) | gnomAD v4 |
12 | g.55954283A>T | CA480178415 | PMEL | c.1917T>A (p.Arg639=) c.1938T>A (p.Arg646=) n.496T>A c.804T>A (p.Arg268=) c.1659T>A (p.Arg553=) c.1812T>A (p.Arg604=) c.1791T>A (p.Arg597=) | |
12 | g.55954284C>A | CA385214705 | PMEL | c.1916G>T (p.Arg639Leu) c.1937G>T (p.Arg646Leu) n.495G>T c.803G>T (p.Arg268Leu) c.1658G>T (p.Arg553Leu) c.1811G>T (p.Arg604Leu) c.1790G>T (p.Arg597Leu) | gnomAD v4 |
12 | g.55954284C= | CA2038177582 | PMEL | c.1916G= (p.Arg639=) c.1937G= (p.Arg646=) n.495G= c.803G= (p.Arg268=) c.1658G= (p.Arg553=) c.1811G= (p.Arg604=) c.1790G= (p.Arg597=) | |
12 | g.55954284C>G | CA385214706 | PMEL | c.1916G>C (p.Arg639Pro) c.1937G>C (p.Arg646Pro) n.495G>C c.803G>C (p.Arg268Pro) c.1658G>C (p.Arg553Pro) c.1811G>C (p.Arg604Pro) c.1790G>C (p.Arg597Pro) | |
12 | g.55954284C>T | CA6619811 | PMEL | c.1916G>A (p.Arg639His) c.1937G>A (p.Arg646His) n.495G>A c.803G>A (p.Arg268His) c.1658G>A (p.Arg553His) c.1811G>A (p.Arg604His) c.1790G>A (p.Arg597His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.55954285G>A | CA6619812 | PMEL | c.1915C>T (p.Arg639Cys) c.1936C>T (p.Arg646Cys) n.494C>T c.802C>T (p.Arg268Cys) c.1657C>T (p.Arg553Cys) c.1810C>T (p.Arg604Cys) c.1789C>T (p.Arg597Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
12 | g.55954285G>C | CA385214707 | PMEL | c.1915C>G (p.Arg639Gly) c.1936C>G (p.Arg646Gly) n.494C>G c.802C>G (p.Arg268Gly) c.1657C>G (p.Arg553Gly) c.1810C>G (p.Arg604Gly) c.1789C>G (p.Arg597Gly) | |
12 | g.55954285G= | CA2038177585 | PMEL | c.1915C= (p.Arg639=) c.1936C= (p.Arg646=) n.494C= c.802C= (p.Arg268=) c.1657C= (p.Arg553=) c.1810C= (p.Arg604=) c.1789C= (p.Arg597=) | |
12 | g.55954285G>T | CA385214708 | PMEL | c.1915C>A (p.Arg639Ser) c.1936C>A (p.Arg646Ser) n.494C>A c.802C>A (p.Arg268Ser) c.1657C>A (p.Arg553Ser) c.1810C>A (p.Arg604Ser) c.1789C>A (p.Arg597Ser) | dbSNP gnomAD v4 |
12 | g.55954286C>A | CA480178425 | PMEL | c.1914G>T (p.Leu638=) c.1935G>T (p.Leu645=) n.493G>T c.801G>T (p.Leu267=) c.1656G>T (p.Leu552=) c.1809G>T (p.Leu603=) c.1788G>T (p.Leu596=) | |
12 | g.55954286C>G | CA480178427 | PMEL | c.1914G>C (p.Leu638=) c.1935G>C (p.Leu645=) n.493G>C c.801G>C (p.Leu267=) c.1656G>C (p.Leu552=) c.1809G>C (p.Leu603=) c.1788G>C (p.Leu596=) | |
12 | g.55954286C>T | CA480178429 | PMEL | c.1914G>A (p.Leu638=) c.1935G>A (p.Leu645=) n.493G>A c.801G>A (p.Leu267=) c.1656G>A (p.Leu552=) c.1809G>A (p.Leu603=) c.1788G>A (p.Leu596=) | |
12 | g.55954287A>C | CA385214709 | PMEL | c.1913T>G (p.Leu638Arg) c.1934T>G (p.Leu645Arg) n.492T>G c.800T>G (p.Leu267Arg) c.1655T>G (p.Leu552Arg) c.1808T>G (p.Leu603Arg) c.1787T>G (p.Leu596Arg) | gnomAD v4 |
12 | g.55954287A>G | CA385214710 | PMEL | c.1913T>C (p.Leu638Pro) c.1934T>C (p.Leu645Pro) n.492T>C c.800T>C (p.Leu267Pro) c.1655T>C (p.Leu552Pro) c.1808T>C (p.Leu603Pro) c.1787T>C (p.Leu596Pro) | |
12 | g.55954287A>T | CA385214711 | PMEL | c.1913T>A (p.Leu638Gln) c.1934T>A (p.Leu645Gln) n.492T>A c.800T>A (p.Leu267Gln) c.1655T>A (p.Leu552Gln) c.1808T>A (p.Leu603Gln) c.1787T>A (p.Leu596Gln) | |
12 | g.55954288G>A | CA480178436 | PMEL | c.1912C>T (p.Leu638=) c.1933C>T (p.Leu645=) n.491C>T c.799C>T (p.Leu267=) c.1654C>T (p.Leu552=) c.1807C>T (p.Leu603=) c.1786C>T (p.Leu596=) | |
12 | g.55954288G>C | CA385214712 | PMEL | c.1912C>G (p.Leu638Val) c.1933C>G (p.Leu645Val) n.491C>G c.799C>G (p.Leu267Val) c.1654C>G (p.Leu552Val) c.1807C>G (p.Leu603Val) c.1786C>G (p.Leu596Val) | |
12 | g.55954288G>T | CA385214713 | PMEL | c.1912C>A (p.Leu638Met) c.1933C>A (p.Leu645Met) n.491C>A c.799C>A (p.Leu267Met) c.1654C>A (p.Leu552Met) c.1807C>A (p.Leu603Met) c.1786C>A (p.Leu596Met) | |
12 | g.55954289C>A | CA385214716 | PMEL | c.1911G>T (p.Trp637Cys) c.1932G>T (p.Trp644Cys) n.490G>T c.798G>T (p.Trp266Cys) c.1653G>T (p.Trp551Cys) c.1806G>T (p.Trp602Cys) c.1785G>T (p.Trp595Cys) | COSMIC COSMIC |
12 | g.55954289C>G | CA385214715 | PMEL | c.1911G>C (p.Trp637Cys) c.1932G>C (p.Trp644Cys) n.490G>C c.798G>C (p.Trp266Cys) c.1653G>C (p.Trp551Cys) c.1806G>C (p.Trp602Cys) c.1785G>C (p.Trp595Cys) | |
12 | g.55954289C>T | CA385214714 | PMEL | c.1911G>A (p.Trp637Ter) c.1932G>A (p.Trp644Ter) n.490G>A c.798G>A (p.Trp266Ter) c.1653G>A (p.Trp551Ter) c.1806G>A (p.Trp602Ter) c.1785G>A (p.Trp595Ter) | |
12 | g.55954290C>A | CA385214717 | PMEL | c.1910G>T (p.Trp637Leu) c.1931G>T (p.Trp644Leu) n.489G>T c.797G>T (p.Trp266Leu) c.1652G>T (p.Trp551Leu) c.1805G>T (p.Trp602Leu) c.1784G>T (p.Trp595Leu) | |
12 | g.55954290C>G | CA385214718 | PMEL | c.1910G>C (p.Trp637Ser) c.1931G>C (p.Trp644Ser) n.489G>C c.797G>C (p.Trp266Ser) c.1652G>C (p.Trp551Ser) c.1805G>C (p.Trp602Ser) c.1784G>C (p.Trp595Ser) | |
12 | g.55954290C>T | CA385214719 | PMEL | c.1910G>A (p.Trp637Ter) c.1931G>A (p.Trp644Ter) n.489G>A c.797G>A (p.Trp266Ter) c.1652G>A (p.Trp551Ter) c.1805G>A (p.Trp602Ter) c.1784G>A (p.Trp595Ter) | |
12 | g.55954291A>C | CA385214720 | PMEL | c.1909T>G (p.Trp637Gly) c.1930T>G (p.Trp644Gly) n.488T>G c.796T>G (p.Trp266Gly) c.1651T>G (p.Trp551Gly) c.1804T>G (p.Trp602Gly) c.1783T>G (p.Trp595Gly) | |
12 | g.55954291A>G | CA385214721 | PMEL | c.1909T>C (p.Trp637Arg) c.1930T>C (p.Trp644Arg) n.488T>C c.796T>C (p.Trp266Arg) c.1651T>C (p.Trp551Arg) c.1804T>C (p.Trp602Arg) c.1783T>C (p.Trp595Arg) | |
12 | g.55954291A>T | CA385214722 | PMEL | c.1909T>A (p.Trp637Arg) c.1930T>A (p.Trp644Arg) n.488T>A c.796T>A (p.Trp266Arg) c.1651T>A (p.Trp551Arg) c.1804T>A (p.Trp602Arg) c.1783T>A (p.Trp595Arg) | |
12 | g.55954292G>A | CA480178447 | PMEL | c.1908C>T (p.His636=) c.1929C>T (p.His643=) n.487C>T c.795C>T (p.His265=) c.1650C>T (p.His550=) c.1803C>T (p.His601=) c.1782C>T (p.His594=) | gnomAD v4 |
12 | g.55954292G>C | CA385214724 | PMEL | c.1908C>G (p.His636Gln) c.1929C>G (p.His643Gln) n.487C>G c.795C>G (p.His265Gln) c.1650C>G (p.His550Gln) c.1803C>G (p.His601Gln) c.1782C>G (p.His594Gln) | |
12 | g.55954292G>T | CA385214723 | PMEL | c.1908C>A (p.His636Gln) c.1929C>A (p.His643Gln) n.487C>A c.795C>A (p.His265Gln) c.1650C>A (p.His550Gln) c.1803C>A (p.His601Gln) c.1782C>A (p.His594Gln) | |
12 | g.55954293T>A | CA385214725 | PMEL | c.1907A>T (p.His636Leu) c.1928A>T (p.His643Leu) n.486A>T c.794A>T (p.His265Leu) c.1649A>T (p.His550Leu) c.1802A>T (p.His601Leu) c.1781A>T (p.His594Leu) | |
12 | g.55954293T>C | CA385214726 | PMEL | c.1907A>G (p.His636Arg) c.1928A>G (p.His643Arg) n.486A>G c.794A>G (p.His265Arg) c.1649A>G (p.His550Arg) c.1802A>G (p.His601Arg) c.1781A>G (p.His594Arg) | |
12 | g.55954293T>G | CA385214727 | PMEL | c.1907A>C (p.His636Pro) c.1928A>C (p.His643Pro) n.486A>C c.794A>C (p.His265Pro) c.1649A>C (p.His550Pro) c.1802A>C (p.His601Pro) c.1781A>C (p.His594Pro) | |
12 | g.55954294G>A | CA385214728 | PMEL | c.1906C>T (p.His636Tyr) c.1927C>T (p.His643Tyr) n.485C>T c.793C>T (p.His265Tyr) c.1648C>T (p.His550Tyr) c.1801C>T (p.His601Tyr) c.1780C>T (p.His594Tyr) | |
12 | g.55954294G>C | CA385214729 | PMEL | c.1906C>G (p.His636Asp) c.1927C>G (p.His643Asp) n.485C>G c.793C>G (p.His265Asp) c.1648C>G (p.His550Asp) c.1801C>G (p.His601Asp) c.1780C>G (p.His594Asp) | |
12 | g.55954294G>T | CA385214730 | PMEL | c.1906C>A (p.His636Asn) c.1927C>A (p.His643Asn) n.485C>A c.793C>A (p.His265Asn) c.1648C>A (p.His550Asn) c.1801C>A (p.His601Asn) c.1780C>A (p.His594Asn) | |
12 | g.55954295A= | CA2038177587 | PMEL | c.1905T= (p.Ser635=) c.1926T= (p.Ser642=) n.484T= c.792T= (p.Ser264=) c.1647T= (p.Ser549=) c.1800T= (p.Ser600=) c.1779T= (p.Ser593=) | |
12 | g.55954295A>C | CA385214731 | PMEL | c.1905T>G (p.Ser635Arg) c.1926T>G (p.Ser642Arg) n.484T>G c.792T>G (p.Ser264Arg) c.1647T>G (p.Ser549Arg) c.1800T>G (p.Ser600Arg) c.1779T>G (p.Ser593Arg) | |
12 | g.55954295A>G | CA6619815 | PMEL | c.1905T>C (p.Ser635=) c.1926T>C (p.Ser642=) n.484T>C c.792T>C (p.Ser264=) c.1647T>C (p.Ser549=) c.1800T>C (p.Ser600=) c.1779T>C (p.Ser593=) | dbSNP ExAC gnomAD v4 |
12 | g.55954295A>T | CA385214732 | PMEL | c.1905T>A (p.Ser635Arg) c.1926T>A (p.Ser642Arg) n.484T>A c.792T>A (p.Ser264Arg) c.1647T>A (p.Ser549Arg) c.1800T>A (p.Ser600Arg) c.1779T>A (p.Ser593Arg) | |
12 | g.55954295_55954301delinsACTGCTG | CA2038177589 | PMEL | c.1899_1905delinsCAGCAGT (p.Ser633=) c.1920_1926delinsCAGCAGT (p.Ser640=) n.478_484delinsCAGCAGT c.786_792delinsCAGCAGT (p.Ser262=) c.1641_1647delinsCAGCAGT (p.Ser547=) c.1794_1800delinsCAGCAGT (p.Ser598=) c.1773_1779delinsCAGCAGT (p.Ser591=) | |
12 | g.55954296C>A | CA385214733 | PMEL | c.1904G>T (p.Ser635Ile) c.1925G>T (p.Ser642Ile) n.483G>T c.791G>T (p.Ser264Ile) c.1646G>T (p.Ser549Ile) c.1799G>T (p.Ser600Ile) c.1778G>T (p.Ser593Ile) | |
12 | g.55954296C>G | CA385214734 | PMEL | c.1904G>C (p.Ser635Thr) c.1925G>C (p.Ser642Thr) n.483G>C c.791G>C (p.Ser264Thr) c.1646G>C (p.Ser549Thr) c.1799G>C (p.Ser600Thr) c.1778G>C (p.Ser593Thr) | |
12 | g.55954296C>T | CA385214735 | PMEL | c.1904G>A (p.Ser635Asn) c.1925G>A (p.Ser642Asn) n.483G>A c.791G>A (p.Ser264Asn) c.1646G>A (p.Ser549Asn) c.1799G>A (p.Ser600Asn) c.1778G>A (p.Ser593Asn) | gnomAD v4 |
12 | g.55954301_55954303del | CA6619814 | PMEL | c.1902_1904del (p.Ser635del) c.1923_1925del (p.Ser642del) n.481_483del c.789_791del (p.Ser264del) c.1644_1646del (p.Ser549del) c.1797_1799del (p.Ser600del) c.1776_1778del (p.Ser593del) | dbSNP ExAC gnomAD v2 |
12 | g.55954298_55954303del | CA6619813 | PMEL | c.1899_1904del (p.Ser634_Ser635del) c.1920_1925del (p.Ser641_Ser642del) n.478_483del c.786_791del (p.Ser263_Ser264del) c.1641_1646del (p.Ser548_Ser549del) c.1794_1799del (p.Ser599_Ser600del) c.1773_1778del (p.Ser592_Ser593del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.55954297T>A | CA385214736 | PMEL | c.1903A>T (p.Ser635Cys) c.1924A>T (p.Ser642Cys) n.482A>T c.790A>T (p.Ser264Cys) c.1645A>T (p.Ser549Cys) c.1798A>T (p.Ser600Cys) c.1777A>T (p.Ser593Cys) | |
12 | g.55954297T>C | CA385214737 | PMEL | c.1903A>G (p.Ser635Gly) c.1924A>G (p.Ser642Gly) n.482A>G c.790A>G (p.Ser264Gly) c.1645A>G (p.Ser549Gly) c.1798A>G (p.Ser600Gly) c.1777A>G (p.Ser593Gly) | |
12 | g.55954297T>G | CA385214738 | PMEL | c.1903A>C (p.Ser635Arg) c.1924A>C (p.Ser642Arg) n.482A>C c.790A>C (p.Ser264Arg) c.1645A>C (p.Ser549Arg) c.1798A>C (p.Ser600Arg) c.1777A>C (p.Ser593Arg) | |
12 | g.55954298G>A | CA480178472 | PMEL | c.1902C>T (p.Ser634=) c.1923C>T (p.Ser641=) n.481C>T c.789C>T (p.Ser263=) c.1644C>T (p.Ser548=) c.1797C>T (p.Ser599=) c.1776C>T (p.Ser592=) | |
12 | g.55954298G>C | CA385214739 | PMEL | c.1902C>G (p.Ser634Arg) c.1923C>G (p.Ser641Arg) n.481C>G c.789C>G (p.Ser263Arg) c.1644C>G (p.Ser548Arg) c.1797C>G (p.Ser599Arg) c.1776C>G (p.Ser592Arg) | |
12 | g.55954298G>T | CA385214740 | PMEL | c.1902C>A (p.Ser634Arg) c.1923C>A (p.Ser641Arg) n.481C>A c.789C>A (p.Ser263Arg) c.1644C>A (p.Ser548Arg) c.1797C>A (p.Ser599Arg) c.1776C>A (p.Ser592Arg) | |
12 | g.55954299C>A | CA385214743 | PMEL | c.1901G>T (p.Ser634Ile) c.1922G>T (p.Ser641Ile) n.480G>T c.788G>T (p.Ser263Ile) c.1643G>T (p.Ser548Ile) c.1796G>T (p.Ser599Ile) c.1775G>T (p.Ser592Ile) | |
12 | g.55954299C>G | CA385214742 | PMEL | c.1901G>C (p.Ser634Thr) c.1922G>C (p.Ser641Thr) n.480G>C c.788G>C (p.Ser263Thr) c.1643G>C (p.Ser548Thr) c.1796G>C (p.Ser599Thr) c.1775G>C (p.Ser592Thr) | |
12 | g.55954299C>T | CA385214741 | PMEL | c.1901G>A (p.Ser634Asn) c.1922G>A (p.Ser641Asn) n.480G>A c.788G>A (p.Ser263Asn) c.1643G>A (p.Ser548Asn) c.1796G>A (p.Ser599Asn) c.1775G>A (p.Ser592Asn) | |
12 | g.55954300T>A | CA385214744 | PMEL | c.1900A>T (p.Ser634Cys) c.1921A>T (p.Ser641Cys) n.479A>T c.787A>T (p.Ser263Cys) c.1642A>T (p.Ser548Cys) c.1795A>T (p.Ser599Cys) c.1774A>T (p.Ser592Cys) | |
12 | g.55954300T>C | CA385214746 | PMEL | c.1900A>G (p.Ser634Gly) c.1921A>G (p.Ser641Gly) n.479A>G c.787A>G (p.Ser263Gly) c.1642A>G (p.Ser548Gly) c.1795A>G (p.Ser599Gly) c.1774A>G (p.Ser592Gly) | dbSNP |
12 | g.55954300T>G | CA385214745 | PMEL | c.1900A>C (p.Ser634Arg) c.1921A>C (p.Ser641Arg) n.479A>C c.787A>C (p.Ser263Arg) c.1642A>C (p.Ser548Arg) c.1795A>C (p.Ser599Arg) c.1774A>C (p.Ser592Arg) | |
12 | g.55954300T= | CA2038177601 | PMEL | c.1900A= (p.Ser634=) c.1921A= (p.Ser641=) n.479A= c.787A= (p.Ser263=) c.1642A= (p.Ser548=) c.1795A= (p.Ser599=) c.1774A= (p.Ser592=) | |
12 | g.55954301G>A | CA480178482 | PMEL | c.1899C>T (p.Ser633=) c.1920C>T (p.Ser640=) n.478C>T c.786C>T (p.Ser262=) c.1641C>T (p.Ser547=) c.1794C>T (p.Ser598=) c.1773C>T (p.Ser591=) | |
12 | g.55954301G>C | CA385214747 | PMEL | c.1899C>G (p.Ser633Arg) c.1920C>G (p.Ser640Arg) n.478C>G c.786C>G (p.Ser262Arg) c.1641C>G (p.Ser547Arg) c.1794C>G (p.Ser598Arg) c.1773C>G (p.Ser591Arg) | |
12 | g.55954301G>T | CA385214748 | PMEL | c.1899C>A (p.Ser633Arg) c.1920C>A (p.Ser640Arg) n.478C>A c.786C>A (p.Ser262Arg) c.1641C>A (p.Ser547Arg) c.1794C>A (p.Ser598Arg) c.1773C>A (p.Ser591Arg) | |
12 | g.55954302C>A | CA385214749 | PMEL | c.1898G>T (p.Ser633Ile) c.1919G>T (p.Ser640Ile) n.477G>T c.785G>T (p.Ser262Ile) c.1640G>T (p.Ser547Ile) c.1793G>T (p.Ser598Ile) c.1772G>T (p.Ser591Ile) | |
12 | g.55954302C= | CA2038177606 | PMEL | c.1898G= (p.Ser633=) c.1919G= (p.Ser640=) n.477G= c.785G= (p.Ser262=) c.1640G= (p.Ser547=) c.1793G= (p.Ser598=) c.1772G= (p.Ser591=) | |
12 | g.55954302C>G | CA385214751 | PMEL | c.1898G>C (p.Ser633Thr) c.1919G>C (p.Ser640Thr) n.477G>C c.785G>C (p.Ser262Thr) c.1640G>C (p.Ser547Thr) c.1793G>C (p.Ser598Thr) c.1772G>C (p.Ser591Thr) | |
12 | g.55954302C>T | CA385214750 | PMEL | c.1898G>A (p.Ser633Asn) c.1919G>A (p.Ser640Asn) n.477G>A c.785G>A (p.Ser262Asn) c.1640G>A (p.Ser547Asn) c.1793G>A (p.Ser598Asn) c.1772G>A (p.Ser591Asn) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.55954302_55954304delinsCTA | CA2038177604 | PMEL | c.1896_1898delinsTAG (p.His632=) c.1917_1919delinsTAG (p.His639=) n.475_477delinsTAG c.783_785delinsTAG (p.His261=) c.1638_1640delinsTAG (p.His546=) c.1791_1793delinsTAG (p.His597=) c.1770_1772delinsTAG (p.His590=) | |
12 | g.55954303T>A | CA385214752 | PMEL | c.1897A>T (p.Ser633Cys) c.1918A>T (p.Ser640Cys) n.476A>T c.784A>T (p.Ser262Cys) c.1639A>T (p.Ser547Cys) c.1792A>T (p.Ser598Cys) c.1771A>T (p.Ser591Cys) | |
12 | g.55954303T>C | CA385214754 | PMEL | c.1897A>G (p.Ser633Gly) c.1918A>G (p.Ser640Gly) n.476A>G c.784A>G (p.Ser262Gly) c.1639A>G (p.Ser547Gly) c.1792A>G (p.Ser598Gly) c.1771A>G (p.Ser591Gly) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.55954303T>G | CA385214753 | PMEL | c.1897A>C (p.Ser633Arg) c.1918A>C (p.Ser640Arg) n.476A>C c.784A>C (p.Ser262Arg) c.1639A>C (p.Ser547Arg) c.1792A>C (p.Ser598Arg) c.1771A>C (p.Ser591Arg) | |
12 | g.55954303T= | CA2038177609 | PMEL | c.1897A= (p.Ser633=) c.1918A= (p.Ser640=) n.476A= c.784A= (p.Ser262=) c.1639A= (p.Ser547=) c.1792A= (p.Ser598=) c.1771A= (p.Ser591=) | |
12 | g.55954304_55954305del | CA605248680 | PMEL | c.1896_1897del (p.His632GlnfsTer19) c.1917_1918del (p.His639GlnfsTer19) n.475_476del c.783_784del (p.His261GlnfsTer19) c.1638_1639del (p.His546GlnfsTer19) c.1791_1792del (p.His597GlnfsTer19) c.1770_1771del (p.His590GlnfsTer19) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.55954304A>C | CA385214755 | PMEL | c.1896T>G (p.His632Gln) c.1917T>G (p.His639Gln) n.475T>G c.783T>G (p.His261Gln) c.1638T>G (p.His546Gln) c.1791T>G (p.His597Gln) c.1770T>G (p.His590Gln) | |
12 | g.55954304A>G | CA480178493 | PMEL | c.1896T>C (p.His632=) c.1917T>C (p.His639=) n.475T>C c.783T>C (p.His261=) c.1638T>C (p.His546=) c.1791T>C (p.His597=) c.1770T>C (p.His590=) | gnomAD v4 |
12 | g.55954304A>T | CA385214756 | PMEL | c.1896T>A (p.His632Gln) c.1917T>A (p.His639Gln) n.475T>A c.783T>A (p.His261Gln) c.1638T>A (p.His546Gln) c.1791T>A (p.His597Gln) c.1770T>A (p.His590Gln) | |
12 | g.55954305T>A | CA385214757 | PMEL | c.1895A>T (p.His632Leu) c.1916A>T (p.His639Leu) n.474A>T c.782A>T (p.His261Leu) c.1637A>T (p.His546Leu) c.1790A>T (p.His597Leu) c.1769A>T (p.His590Leu) | |
12 | g.55954305T>C | CA385214759 | PMEL | c.1895A>G (p.His632Arg) c.1916A>G (p.His639Arg) n.474A>G c.782A>G (p.His261Arg) c.1637A>G (p.His546Arg) c.1790A>G (p.His597Arg) c.1769A>G (p.His590Arg) | gnomAD v4 |
12 | g.55954305T>G | CA385214758 | PMEL | c.1895A>C (p.His632Pro) c.1916A>C (p.His639Pro) n.474A>C c.782A>C (p.His261Pro) c.1637A>C (p.His546Pro) c.1790A>C (p.His597Pro) c.1769A>C (p.His590Pro) | |
12 | g.55954306G>A | CA385214760 | PMEL | c.1894C>T (p.His632Tyr) c.1915C>T (p.His639Tyr) n.473C>T c.781C>T (p.His261Tyr) c.1636C>T (p.His546Tyr) c.1789C>T (p.His597Tyr) c.1768C>T (p.His590Tyr) | |
12 | g.55954306G>C | CA385214761 | PMEL | c.1894C>G (p.His632Asp) c.1915C>G (p.His639Asp) n.473C>G c.781C>G (p.His261Asp) c.1636C>G (p.His546Asp) c.1789C>G (p.His597Asp) c.1768C>G (p.His590Asp) | |
12 | g.55954306G>T | CA385214762 | PMEL | c.1894C>A (p.His632Asn) c.1915C>A (p.His639Asn) n.473C>A c.781C>A (p.His261Asn) c.1636C>A (p.His546Asn) c.1789C>A (p.His597Asn) c.1768C>A (p.His590Asn) | |
12 | g.55954307T>A | CA480178502 | PMEL | c.1893A>T (p.Pro631=) c.1914A>T (p.Pro638=) n.472A>T c.780A>T (p.Pro260=) c.1635A>T (p.Pro545=) c.1788A>T (p.Pro596=) c.1767A>T (p.Pro589=) | |
12 | g.55954307T>C | CA480178503 | PMEL | c.1893A>G (p.Pro631=) c.1914A>G (p.Pro638=) n.472A>G c.780A>G (p.Pro260=) c.1635A>G (p.Pro545=) c.1788A>G (p.Pro596=) c.1767A>G (p.Pro589=) | |
12 | g.55954307T>G | CA480178504 | PMEL | c.1893A>C (p.Pro631=) c.1914A>C (p.Pro638=) n.472A>C c.780A>C (p.Pro260=) c.1635A>C (p.Pro545=) c.1788A>C (p.Pro596=) c.1767A>C (p.Pro589=) | |
12 | g.55954308G>A | CA385214763 | PMEL | c.1892C>T (p.Pro631Leu) c.1913C>T (p.Pro638Leu) n.471C>T c.779C>T (p.Pro260Leu) c.1634C>T (p.Pro545Leu) c.1787C>T (p.Pro596Leu) c.1766C>T (p.Pro589Leu) | gnomAD v4 |
12 | g.55954308G>C | CA6619816 | PMEL | c.1892C>G (p.Pro631Arg) c.1913C>G (p.Pro638Arg) n.471C>G c.779C>G (p.Pro260Arg) c.1634C>G (p.Pro545Arg) c.1787C>G (p.Pro596Arg) c.1766C>G (p.Pro589Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.55954308G= | CA2038177613 | PMEL | c.1892C= (p.Pro631=) c.1913C= (p.Pro638=) n.471C= c.779C= (p.Pro260=) c.1634C= (p.Pro545=) c.1787C= (p.Pro596=) c.1766C= (p.Pro589=) | |
12 | g.55954308G>T | CA385214764 | PMEL | c.1892C>A (p.Pro631Gln) c.1913C>A (p.Pro638Gln) n.471C>A c.779C>A (p.Pro260Gln) c.1634C>A (p.Pro545Gln) c.1787C>A (p.Pro596Gln) c.1766C>A (p.Pro589Gln) | |
12 | g.55954309G>A | CA6619817 | PMEL | c.1891C>T (p.Pro631Ser) c.1912C>T (p.Pro638Ser) n.470C>T c.778C>T (p.Pro260Ser) c.1633C>T (p.Pro545Ser) c.1786C>T (p.Pro596Ser) c.1765C>T (p.Pro589Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.55954309G>C | CA385214765 | PMEL | c.1891C>G (p.Pro631Ala) c.1912C>G (p.Pro638Ala) n.470C>G c.778C>G (p.Pro260Ala) c.1633C>G (p.Pro545Ala) c.1786C>G (p.Pro596Ala) c.1765C>G (p.Pro589Ala) | |
12 | g.55954309G= | CA2038177617 | PMEL | c.1891C= (p.Pro631=) c.1912C= (p.Pro638=) n.470C= c.778C= (p.Pro260=) c.1633C= (p.Pro545=) c.1786C= (p.Pro596=) c.1765C= (p.Pro589=) | |
12 | g.55954309G>T | CA385214766 | PMEL | c.1891C>A (p.Pro631Thr) c.1912C>A (p.Pro638Thr) n.470C>A c.778C>A (p.Pro260Thr) c.1633C>A (p.Pro545Thr) c.1786C>A (p.Pro596Thr) c.1765C>A (p.Pro589Thr) | |
12 | g.55954310C>A | CA385214767 | PMEL | c.1890G>T (p.Leu630Phe) c.1911G>T (p.Leu637Phe) n.469G>T c.777G>T (p.Leu259Phe) c.1632G>T (p.Leu544Phe) c.1785G>T (p.Leu595Phe) c.1764G>T (p.Leu588Phe) | |
12 | g.55954310C>G | CA385214768 | PMEL | c.1890G>C (p.Leu630Phe) c.1911G>C (p.Leu637Phe) n.469G>C c.777G>C (p.Leu259Phe) c.1632G>C (p.Leu544Phe) c.1785G>C (p.Leu595Phe) c.1764G>C (p.Leu588Phe) | |
12 | g.55954310C>T | CA480178511 | PMEL | c.1890G>A (p.Leu630=) c.1911G>A (p.Leu637=) n.469G>A c.777G>A (p.Leu259=) c.1632G>A (p.Leu544=) c.1785G>A (p.Leu595=) c.1764G>A (p.Leu588=) | COSMIC COSMIC |
12 | g.55954311A>C | CA385214771 | PMEL | c.1889T>G (p.Leu630Trp) c.1910T>G (p.Leu637Trp) n.468T>G c.776T>G (p.Leu259Trp) c.1631T>G (p.Leu544Trp) c.1784T>G (p.Leu595Trp) c.1763T>G (p.Leu588Trp) | |
12 | g.55954311A>G | CA385214769 | PMEL | c.1889T>C (p.Leu630Ser) c.1910T>C (p.Leu637Ser) n.468T>C c.776T>C (p.Leu259Ser) c.1631T>C (p.Leu544Ser) c.1784T>C (p.Leu595Ser) c.1763T>C (p.Leu588Ser) | |
12 | g.55954311A>T | CA385214770 | PMEL | c.1889T>A (p.Leu630Ter) c.1910T>A (p.Leu637Ter) n.468T>A c.776T>A (p.Leu259Ter) c.1631T>A (p.Leu544Ter) c.1784T>A (p.Leu595Ter) c.1763T>A (p.Leu588Ter) | |
12 | g.55954312A>C | CA385214772 | PMEL | c.1888T>G (p.Leu630Val) c.1909T>G (p.Leu637Val) n.467T>G c.775T>G (p.Leu259Val) c.1630T>G (p.Leu544Val) c.1783T>G (p.Leu595Val) c.1762T>G (p.Leu588Val) | |
12 | g.55954312A>G | CA480178516 | PMEL | c.1888T>C (p.Leu630=) c.1909T>C (p.Leu637=) n.467T>C c.775T>C (p.Leu259=) c.1630T>C (p.Leu544=) c.1783T>C (p.Leu595=) c.1762T>C (p.Leu588=) | |
12 | g.55954312A>T | CA385214773 | PMEL | c.1888T>A (p.Leu630Met) c.1909T>A (p.Leu637Met) n.467T>A c.775T>A (p.Leu259Met) c.1630T>A (p.Leu544Met) c.1783T>A (p.Leu595Met) c.1762T>A (p.Leu588Met) | |
12 | g.55954313C>A | CA385214774 | PMEL | c.1887G>T (p.Gln629His) c.1908G>T (p.Gln636His) n.466G>T c.774G>T (p.Gln258His) c.1629G>T (p.Gln543His) c.1782G>T (p.Gln594His) c.1761G>T (p.Gln587His) | |
12 | g.55954313C= | CA2038177624 | PMEL | c.1887G= (p.Gln629=) c.1908G= (p.Gln636=) n.466G= c.774G= (p.Gln258=) c.1629G= (p.Gln543=) c.1782G= (p.Gln594=) c.1761G= (p.Gln587=) | |
12 | g.55954313C>G | CA385214775 | PMEL | c.1887G>C (p.Gln629His) c.1908G>C (p.Gln636His) n.466G>C c.774G>C (p.Gln258His) c.1629G>C (p.Gln543His) c.1782G>C (p.Gln594His) c.1761G>C (p.Gln587His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.55954313C>T | CA480178519 | PMEL | c.1887G>A (p.Gln629=) c.1908G>A (p.Gln636=) n.466G>A c.774G>A (p.Gln258=) c.1629G>A (p.Gln543=) c.1782G>A (p.Gln594=) c.1761G>A (p.Gln587=) | gnomAD v4 |
12 | g.55954314T>A | CA385214776 | PMEL | c.1886A>T (p.Gln629Leu) c.1907A>T (p.Gln636Leu) n.465A>T c.773A>T (p.Gln258Leu) c.1628A>T (p.Gln543Leu) c.1781A>T (p.Gln594Leu) c.1760A>T (p.Gln587Leu) | |
12 | g.55954314T>C | CA385214777 | PMEL | c.1886A>G (p.Gln629Arg) c.1907A>G (p.Gln636Arg) n.465A>G c.773A>G (p.Gln258Arg) c.1628A>G (p.Gln543Arg) c.1781A>G (p.Gln594Arg) c.1760A>G (p.Gln587Arg) | gnomAD v4 |
12 | g.55954314T>G | CA385214778 | PMEL | c.1886A>C (p.Gln629Pro) c.1907A>C (p.Gln636Pro) n.465A>C c.773A>C (p.Gln258Pro) c.1628A>C (p.Gln543Pro) c.1781A>C (p.Gln594Pro) c.1760A>C (p.Gln587Pro) | |
12 | g.55954315G>A | CA385214779 | PMEL | c.1885C>T (p.Gln629Ter) c.1906C>T (p.Gln636Ter) n.464C>T c.772C>T (p.Gln258Ter) c.1627C>T (p.Gln543Ter) c.1780C>T (p.Gln594Ter) c.1759C>T (p.Gln587Ter) | |
12 | g.55954315G>C | CA385214780 | PMEL | c.1885C>G (p.Gln629Glu) c.1906C>G (p.Gln636Glu) n.464C>G c.772C>G (p.Gln258Glu) c.1627C>G (p.Gln543Glu) c.1780C>G (p.Gln594Glu) c.1759C>G (p.Gln587Glu) | gnomAD v4 |
12 | g.55954315G>T | CA385214781 | PMEL | c.1885C>A (p.Gln629Lys) c.1906C>A (p.Gln636Lys) n.464C>A c.772C>A (p.Gln258Lys) c.1627C>A (p.Gln543Lys) c.1780C>A (p.Gln594Lys) c.1759C>A (p.Gln587Lys) | |
12 | g.55954316G>A | CA480178528 | PMEL | c.1884C>T (p.Pro628=) c.1905C>T (p.Pro635=) n.463C>T c.771C>T (p.Pro257=) c.1626C>T (p.Pro542=) c.1779C>T (p.Pro593=) c.1758C>T (p.Pro586=) | |
12 | g.55954316G>C | CA480178530 | PMEL | c.1884C>G (p.Pro628=) c.1905C>G (p.Pro635=) n.463C>G c.771C>G (p.Pro257=) c.1626C>G (p.Pro542=) c.1779C>G (p.Pro593=) c.1758C>G (p.Pro586=) | |
12 | g.55954316G>T | CA480178531 | PMEL | c.1884C>A (p.Pro628=) c.1905C>A (p.Pro635=) n.463C>A c.771C>A (p.Pro257=) c.1626C>A (p.Pro542=) c.1779C>A (p.Pro593=) c.1758C>A (p.Pro586=) | |
12 | g.55954317G>A | CA385214783 | PMEL | c.1883C>T (p.Pro628Leu) c.1904C>T (p.Pro635Leu) n.462C>T c.770C>T (p.Pro257Leu) c.1625C>T (p.Pro542Leu) c.1778C>T (p.Pro593Leu) c.1757C>T (p.Pro586Leu) | |
12 | g.55954317G>C | CA385214784 | PMEL | c.1883C>G (p.Pro628Arg) c.1904C>G (p.Pro635Arg) n.462C>G c.770C>G (p.Pro257Arg) c.1625C>G (p.Pro542Arg) c.1778C>G (p.Pro593Arg) c.1757C>G (p.Pro586Arg) | |
12 | g.55954317G>T | CA385214782 | PMEL | c.1883C>A (p.Pro628His) c.1904C>A (p.Pro635His) n.462C>A c.770C>A (p.Pro257His) c.1625C>A (p.Pro542His) c.1778C>A (p.Pro593His) c.1757C>A (p.Pro586His) | |
12 | g.55954318G>A | CA385214785 | PMEL | c.1882C>T (p.Pro628Ser) c.1903C>T (p.Pro635Ser) n.461C>T c.769C>T (p.Pro257Ser) c.1624C>T (p.Pro542Ser) c.1777C>T (p.Pro593Ser) c.1756C>T (p.Pro586Ser) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.55954318G>C | CA385214786 | PMEL | c.1882C>G (p.Pro628Ala) c.1903C>G (p.Pro635Ala) n.461C>G c.769C>G (p.Pro257Ala) c.1624C>G (p.Pro542Ala) c.1777C>G (p.Pro593Ala) c.1756C>G (p.Pro586Ala) | |
12 | g.55954318G= | CA2038177629 | PMEL | c.1882C= (p.Pro628=) c.1903C= (p.Pro635=) n.461C= c.769C= (p.Pro257=) c.1624C= (p.Pro542=) c.1777C= (p.Pro593=) c.1756C= (p.Pro586=) | |
12 | g.55954318G>T | CA385214787 | PMEL | c.1882C>A (p.Pro628Thr) c.1903C>A (p.Pro635Thr) n.461C>A c.769C>A (p.Pro257Thr) c.1624C>A (p.Pro542Thr) c.1777C>A (p.Pro593Thr) c.1756C>A (p.Pro586Thr) | |
12 | g.55954319T>A | CA480178540 | PMEL | c.1881A>T (p.Val627=) c.1902A>T (p.Val634=) n.460A>T c.768A>T (p.Val256=) c.1623A>T (p.Val541=) c.1776A>T (p.Val592=) c.1755A>T (p.Val585=) | dbSNP |
12 | g.55954319T>C | CA480178542 | PMEL | c.1881A>G (p.Val627=) c.1902A>G (p.Val634=) n.460A>G c.768A>G (p.Val256=) c.1623A>G (p.Val541=) c.1776A>G (p.Val592=) c.1755A>G (p.Val585=) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
12 | g.55954319T>G | CA480178543 | PMEL | c.1881A>C (p.Val627=) c.1902A>C (p.Val634=) n.460A>C c.768A>C (p.Val256=) c.1623A>C (p.Val541=) c.1776A>C (p.Val592=) c.1755A>C (p.Val585=) | dbSNP |
12 | g.55954319T= | CA2038177633 | PMEL | c.1881A= (p.Val627=) c.1902A= (p.Val634=) n.460A= c.768A= (p.Val256=) c.1623A= (p.Val541=) c.1776A= (p.Val592=) c.1755A= (p.Val585=) | |
12 | g.55954320A>C | CA385214788 | PMEL | c.1880T>G (p.Val627Gly) c.1901T>G (p.Val634Gly) n.459T>G c.767T>G (p.Val256Gly) c.1622T>G (p.Val541Gly) c.1775T>G (p.Val592Gly) c.1754T>G (p.Val585Gly) | |
12 | g.55954320A>G | CA385214789 | PMEL | c.1880T>C (p.Val627Ala) c.1901T>C (p.Val634Ala) n.459T>C c.767T>C (p.Val256Ala) c.1622T>C (p.Val541Ala) c.1775T>C (p.Val592Ala) c.1754T>C (p.Val585Ala) | |
12 | g.55954320A>T | CA385214790 | PMEL | c.1880T>A (p.Val627Glu) c.1901T>A (p.Val634Glu) n.459T>A c.767T>A (p.Val256Glu) c.1622T>A (p.Val541Glu) c.1775T>A (p.Val592Glu) c.1754T>A (p.Val585Glu) | gnomAD v4 |
12 | g.55954321C>A | CA385214791 | PMEL | c.1879G>T (p.Val627Leu) c.1900G>T (p.Val634Leu) n.458G>T c.766G>T (p.Val256Leu) c.1621G>T (p.Val541Leu) c.1774G>T (p.Val592Leu) c.1753G>T (p.Val585Leu) | |
12 | g.55954321C= | CA2038177639 | PMEL | c.1879G= (p.Val627=) c.1900G= (p.Val634=) n.458G= c.766G= (p.Val256=) c.1621G= (p.Val541=) c.1774G= (p.Val592=) c.1753G= (p.Val585=) | |
12 | g.55954321C>G | CA385214792 | PMEL | c.1879G>C (p.Val627Leu) c.1900G>C (p.Val634Leu) n.458G>C c.766G>C (p.Val256Leu) c.1621G>C (p.Val541Leu) c.1774G>C (p.Val592Leu) c.1753G>C (p.Val585Leu) | |
12 | g.55954321C>T | CA6619818 | PMEL | c.1879G>A (p.Val627Ile) c.1900G>A (p.Val634Ile) n.458G>A c.766G>A (p.Val256Ile) c.1621G>A (p.Val541Ile) c.1774G>A (p.Val592Ile) c.1753G>A (p.Val585Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
12 | g.55954322G>A | CA6619819 | PMEL | c.1878C>T (p.Ser626=) c.1899C>T (p.Ser633=) n.457C>T c.765C>T (p.Ser255=) c.1620C>T (p.Ser540=) c.1773C>T (p.Ser591=) c.1752C>T (p.Ser584=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.55954322G>C | CA480178553 | PMEL | c.1878C>G (p.Ser626=) c.1899C>G (p.Ser633=) n.457C>G c.765C>G (p.Ser255=) c.1620C>G (p.Ser540=) c.1773C>G (p.Ser591=) c.1752C>G (p.Ser584=) | |
12 | g.55954322G= | CA2038177647 | PMEL | c.1878C= (p.Ser626=) c.1899C= (p.Ser633=) n.457C= c.765C= (p.Ser255=) c.1620C= (p.Ser540=) c.1773C= (p.Ser591=) c.1752C= (p.Ser584=) | |
12 | g.55954322G>T | CA480178554 | PMEL | c.1878C>A (p.Ser626=) c.1899C>A (p.Ser633=) n.457C>A c.765C>A (p.Ser255=) c.1620C>A (p.Ser540=) c.1773C>A (p.Ser591=) c.1752C>A (p.Ser584=) | |
12 | g.55954323G>A | CA385214793 | PMEL | c.1877C>T (p.Ser626Phe) c.1898C>T (p.Ser633Phe) n.456C>T c.764C>T (p.Ser255Phe) c.1619C>T (p.Ser540Phe) c.1772C>T (p.Ser591Phe) c.1751C>T (p.Ser584Phe) | gnomAD v4 |
12 | g.55954323G>C | CA237587850 | PMEL | c.1877C>G (p.Ser626Cys) c.1898C>G (p.Ser633Cys) n.456C>G c.764C>G (p.Ser255Cys) c.1619C>G (p.Ser540Cys) c.1772C>G (p.Ser591Cys) c.1751C>G (p.Ser584Cys) | dbSNP |
12 | g.55954323G= | CA2038177655 | PMEL | c.1877C= (p.Ser626=) c.1898C= (p.Ser633=) n.456C= c.764C= (p.Ser255=) c.1619C= (p.Ser540=) c.1772C= (p.Ser591=) c.1751C= (p.Ser584=) | |
12 | g.55954323G>T | CA385214794 | PMEL | c.1877C>A (p.Ser626Tyr) c.1898C>A (p.Ser633Tyr) n.456C>A c.764C>A (p.Ser255Tyr) c.1619C>A (p.Ser540Tyr) c.1772C>A (p.Ser591Tyr) c.1751C>A (p.Ser584Tyr) | |
12 | g.55954324A>C | CA385214795 | PMEL | c.1876T>G (p.Ser626Ala) c.1897T>G (p.Ser633Ala) n.455T>G c.763T>G (p.Ser255Ala) c.1618T>G (p.Ser540Ala) c.1771T>G (p.Ser591Ala) c.1750T>G (p.Ser584Ala) | |
12 | g.55954324A>G | CA385214797 | PMEL | c.1876T>C (p.Ser626Pro) c.1897T>C (p.Ser633Pro) n.455T>C c.763T>C (p.Ser255Pro) c.1618T>C (p.Ser540Pro) c.1771T>C (p.Ser591Pro) c.1750T>C (p.Ser584Pro) | |
12 | g.55954324A>T | CA385214796 | PMEL | c.1876T>A (p.Ser626Thr) c.1897T>A (p.Ser633Thr) n.455T>A c.763T>A (p.Ser255Thr) c.1618T>A (p.Ser540Thr) c.1771T>A (p.Ser591Thr) c.1750T>A (p.Ser584Thr) | |
12 | g.55954325G>A | CA480178565 | PMEL | c.1875C>T (p.Phe625=) c.1896C>T (p.Phe632=) n.454C>T c.762C>T (p.Phe254=) c.1617C>T (p.Phe539=) c.1770C>T (p.Phe590=) c.1749C>T (p.Phe583=) | gnomAD v4 |
12 | g.55954325G>C | CA385214798 | PMEL | c.1875C>G (p.Phe625Leu) c.1896C>G (p.Phe632Leu) n.454C>G c.762C>G (p.Phe254Leu) c.1617C>G (p.Phe539Leu) c.1770C>G (p.Phe590Leu) c.1749C>G (p.Phe583Leu) | |
12 | g.55954325G>T | CA385214799 | PMEL | c.1875C>A (p.Phe625Leu) c.1896C>A (p.Phe632Leu) n.454C>A c.762C>A (p.Phe254Leu) c.1617C>A (p.Phe539Leu) c.1770C>A (p.Phe590Leu) c.1749C>A (p.Phe583Leu) | |
12 | g.55954326A>C | CA385214800 | PMEL | c.1874T>G (p.Phe625Cys) c.1895T>G (p.Phe632Cys) n.453T>G c.761T>G (p.Phe254Cys) c.1616T>G (p.Phe539Cys) c.1769T>G (p.Phe590Cys) c.1748T>G (p.Phe583Cys) | |
12 | g.55954326A>G | CA385214801 | PMEL | c.1874T>C (p.Phe625Ser) c.1895T>C (p.Phe632Ser) n.453T>C c.761T>C (p.Phe254Ser) c.1616T>C (p.Phe539Ser) c.1769T>C (p.Phe590Ser) c.1748T>C (p.Phe583Ser) | |
12 | g.55954326A>T | CA385214802 | PMEL | c.1874T>A (p.Phe625Tyr) c.1895T>A (p.Phe632Tyr) n.453T>A c.761T>A (p.Phe254Tyr) c.1616T>A (p.Phe539Tyr) c.1769T>A (p.Phe590Tyr) c.1748T>A (p.Phe583Tyr) | |
12 | g.55954327A>C | CA385214803 | PMEL | c.1873T>G (p.Phe625Val) c.1894T>G (p.Phe632Val) n.452T>G c.760T>G (p.Phe254Val) c.1615T>G (p.Phe539Val) c.1768T>G (p.Phe590Val) c.1747T>G (p.Phe583Val) | |
12 | g.55954327A>G | CA385214804 | PMEL | c.1873T>C (p.Phe625Leu) c.1894T>C (p.Phe632Leu) n.452T>C c.760T>C (p.Phe254Leu) c.1615T>C (p.Phe539Leu) c.1768T>C (p.Phe590Leu) c.1747T>C (p.Phe583Leu) | |
12 | g.55954327A>T | CA385214805 | PMEL | c.1873T>A (p.Phe625Ile) c.1894T>A (p.Phe632Ile) n.452T>A c.760T>A (p.Phe254Ile) c.1615T>A (p.Phe539Ile) c.1768T>A (p.Phe590Ile) c.1747T>A (p.Phe583Ile) | |
12 | g.55954328G>A | CA6619820 | PMEL | c.1872C>T (p.Asp624=) c.1893C>T (p.Asp631=) n.451C>T c.759C>T (p.Asp253=) c.1614C>T (p.Asp538=) c.1767C>T (p.Asp589=) c.1746C>T (p.Asp582=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.55954328G>C | CA385214806 | PMEL | c.1872C>G (p.Asp624Glu) c.1893C>G (p.Asp631Glu) n.451C>G c.759C>G (p.Asp253Glu) c.1614C>G (p.Asp538Glu) c.1767C>G (p.Asp589Glu) c.1746C>G (p.Asp582Glu) | |
12 | g.55954328G= | CA2038177659 | PMEL | c.1872C= (p.Asp624=) c.1893C= (p.Asp631=) n.451C= c.759C= (p.Asp253=) c.1614C= (p.Asp538=) c.1767C= (p.Asp589=) c.1746C= (p.Asp582=) | |
12 | g.55954328G>T | CA385214807 | PMEL | c.1872C>A (p.Asp624Glu) c.1893C>A (p.Asp631Glu) n.451C>A c.759C>A (p.Asp253Glu) c.1614C>A (p.Asp538Glu) c.1767C>A (p.Asp589Glu) c.1746C>A (p.Asp582Glu) | dbSNP |
12 | g.55954329T>A | CA385214810 | PMEL | c.1871A>T (p.Asp624Val) c.1892A>T (p.Asp631Val) n.450A>T c.758A>T (p.Asp253Val) c.1613A>T (p.Asp538Val) c.1766A>T (p.Asp589Val) c.1745A>T (p.Asp582Val) | |
12 | g.55954329T>C | CA385214809 | PMEL | c.1871A>G (p.Asp624Gly) c.1892A>G (p.Asp631Gly) n.450A>G c.758A>G (p.Asp253Gly) c.1613A>G (p.Asp538Gly) c.1766A>G (p.Asp589Gly) c.1745A>G (p.Asp582Gly) | |
12 | g.55954329T>G | CA385214808 | PMEL | c.1871A>C (p.Asp624Ala) c.1892A>C (p.Asp631Ala) n.450A>C c.758A>C (p.Asp253Ala) c.1613A>C (p.Asp538Ala) c.1766A>C (p.Asp589Ala) c.1745A>C (p.Asp582Ala) | |
12 | g.55954330C>A | CA385214811 | PMEL | c.1870G>T (p.Asp624Tyr) c.1891G>T (p.Asp631Tyr) n.449G>T c.757G>T (p.Asp253Tyr) c.1612G>T (p.Asp538Tyr) c.1765G>T (p.Asp589Tyr) c.1744G>T (p.Asp582Tyr) | |
12 | g.55954330C>G | CA385214813 | PMEL | c.1870G>C (p.Asp624His) c.1891G>C (p.Asp631His) n.449G>C c.757G>C (p.Asp253His) c.1612G>C (p.Asp538His) c.1765G>C (p.Asp589His) c.1744G>C (p.Asp582His) | |
12 | g.55954330C>T | CA385214812 | PMEL | c.1870G>A (p.Asp624Asn) c.1891G>A (p.Asp631Asn) n.449G>A c.757G>A (p.Asp253Asn) c.1612G>A (p.Asp538Asn) c.1765G>A (p.Asp589Asn) c.1744G>A (p.Asp582Asn) | gnomAD v4 |
12 | g.55954331T>A | CA385214814 | PMEL | c.1869A>T (p.Gln623His) c.1890A>T (p.Gln630His) n.448A>T c.756A>T (p.Gln252His) c.1611A>T (p.Gln537His) c.1764A>T (p.Gln588His) c.1743A>T (p.Gln581His) | |
12 | g.55954331T>C | CA480178584 | PMEL | c.1869A>G (p.Gln623=) c.1890A>G (p.Gln630=) n.448A>G c.756A>G (p.Gln252=) c.1611A>G (p.Gln537=) c.1764A>G (p.Gln588=) c.1743A>G (p.Gln581=) | |
12 | g.55954331T>G | CA385214815 | PMEL | c.1869A>C (p.Gln623His) c.1890A>C (p.Gln630His) n.448A>C c.756A>C (p.Gln252His) c.1611A>C (p.Gln537His) c.1764A>C (p.Gln588His) c.1743A>C (p.Gln581His) | |
12 | g.55954332T>A | CA385214816 | PMEL | c.1868A>T (p.Gln623Leu) c.1889A>T (p.Gln630Leu) n.447A>T c.755A>T (p.Gln252Leu) c.1610A>T (p.Gln537Leu) c.1763A>T (p.Gln588Leu) c.1742A>T (p.Gln581Leu) | |
12 | g.55954332T>C | CA385214817 | PMEL | c.1868A>G (p.Gln623Arg) c.1889A>G (p.Gln630Arg) n.447A>G c.755A>G (p.Gln252Arg) c.1610A>G (p.Gln537Arg) c.1763A>G (p.Gln588Arg) c.1742A>G (p.Gln581Arg) | |
12 | g.55954332T>G | CA385214818 | PMEL | c.1868A>C (p.Gln623Pro) c.1889A>C (p.Gln630Pro) n.447A>C c.755A>C (p.Gln252Pro) c.1610A>C (p.Gln537Pro) c.1763A>C (p.Gln588Pro) c.1742A>C (p.Gln581Pro) | |
12 | g.55954333G>A | CA385214819 | PMEL | c.1867C>T (p.Gln623Ter) c.1888C>T (p.Gln630Ter) n.446C>T c.754C>T (p.Gln252Ter) c.1609C>T (p.Gln537Ter) c.1762C>T (p.Gln588Ter) c.1741C>T (p.Gln581Ter) | |
12 | g.55954333G>C | CA385214820 | PMEL | c.1867C>G (p.Gln623Glu) c.1888C>G (p.Gln630Glu) n.446C>G c.754C>G (p.Gln252Glu) c.1609C>G (p.Gln537Glu) c.1762C>G (p.Gln588Glu) c.1741C>G (p.Gln581Glu) | |
12 | g.55954333G>T | CA385214821 | PMEL | c.1867C>A (p.Gln623Lys) c.1888C>A (p.Gln630Lys) n.446C>A c.754C>A (p.Gln252Lys) c.1609C>A (p.Gln537Lys) c.1762C>A (p.Gln588Lys) c.1741C>A (p.Gln581Lys) | |
12 | g.55954334C>A | CA385214822 | PMEL | c.1866G>T (p.Lys622Asn) c.1887G>T (p.Lys629Asn) n.445G>T c.753G>T (p.Lys251Asn) c.1608G>T (p.Lys536Asn) c.1761G>T (p.Lys587Asn) c.1740G>T (p.Lys580Asn) | |
12 | g.55954334C>G | CA385214823 | PMEL | c.1866G>C (p.Lys622Asn) c.1887G>C (p.Lys629Asn) n.445G>C c.753G>C (p.Lys251Asn) c.1608G>C (p.Lys536Asn) c.1761G>C (p.Lys587Asn) c.1740G>C (p.Lys580Asn) | |
12 | g.55954334C>T | CA480178595 | PMEL | c.1866G>A (p.Lys622=) c.1887G>A (p.Lys629=) n.445G>A c.753G>A (p.Lys251=) c.1608G>A (p.Lys536=) c.1761G>A (p.Lys587=) c.1740G>A (p.Lys580=) | |
12 | g.55954335T>A | CA385214824 | PMEL | c.1865A>T (p.Lys622Met) c.1886A>T (p.Lys629Met) n.444A>T c.752A>T (p.Lys251Met) c.1607A>T (p.Lys536Met) c.1760A>T (p.Lys587Met) c.1739A>T (p.Lys580Met) | |
12 | g.55954335T>C | CA385214825 | PMEL | c.1865A>G (p.Lys622Arg) c.1886A>G (p.Lys629Arg) n.444A>G c.752A>G (p.Lys251Arg) c.1607A>G (p.Lys536Arg) c.1760A>G (p.Lys587Arg) c.1739A>G (p.Lys580Arg) | |
12 | g.55954335T>G | CA385214826 | PMEL | c.1865A>C (p.Lys622Thr) c.1886A>C (p.Lys629Thr) n.444A>C c.752A>C (p.Lys251Thr) c.1607A>C (p.Lys536Thr) c.1760A>C (p.Lys587Thr) c.1739A>C (p.Lys580Thr) | |
12 | g.55954336T>A | CA385214827 | PMEL | c.1864A>T (p.Lys622Ter) c.1885A>T (p.Lys629Ter) n.443A>T c.751A>T (p.Lys251Ter) c.1606A>T (p.Lys536Ter) c.1759A>T (p.Lys587Ter) c.1738A>T (p.Lys580Ter) | |
12 | g.55954336T>C | CA385214829 | PMEL | c.1864A>G (p.Lys622Glu) c.1885A>G (p.Lys629Glu) n.443A>G c.751A>G (p.Lys251Glu) c.1606A>G (p.Lys536Glu) c.1759A>G (p.Lys587Glu) c.1738A>G (p.Lys580Glu) | |
12 | g.55954336T>G | CA385214828 | PMEL | c.1864A>C (p.Lys622Gln) c.1885A>C (p.Lys629Gln) n.443A>C c.751A>C (p.Lys251Gln) c.1606A>C (p.Lys536Gln) c.1759A>C (p.Lys587Gln) c.1738A>C (p.Lys580Gln) | |
12 | g.55954337C>A | CA385214830 | PMEL | c.1863G>T (p.Met621Ile) c.1884G>T (p.Met628Ile) n.442G>T c.750G>T (p.Met250Ile) c.1605G>T (p.Met535Ile) c.1758G>T (p.Met586Ile) c.1737G>T (p.Met579Ile) | |
12 | g.55954337C>G | CA385214831 | PMEL | c.1863G>C (p.Met621Ile) c.1884G>C (p.Met628Ile) n.442G>C c.750G>C (p.Met250Ile) c.1605G>C (p.Met535Ile) c.1758G>C (p.Met586Ile) c.1737G>C (p.Met579Ile) | |
12 | g.55954337C>T | CA385214832 | PMEL | c.1863G>A (p.Met621Ile) c.1884G>A (p.Met628Ile) n.442G>A c.750G>A (p.Met250Ile) c.1605G>A (p.Met535Ile) c.1758G>A (p.Met586Ile) c.1737G>A (p.Met579Ile) | gnomAD v4 |
12 | g.55954338A= | CA2038177666 | PMEL | c.1862T= (p.Met621=) c.1883T= (p.Met628=) n.441T= c.749T= (p.Met250=) c.1604T= (p.Met535=) c.1757T= (p.Met586=) c.1736T= (p.Met579=) | |
12 | g.55954338A>C | CA385214833 | PMEL | c.1862T>G (p.Met621Arg) c.1883T>G (p.Met628Arg) n.441T>G c.749T>G (p.Met250Arg) c.1604T>G (p.Met535Arg) c.1757T>G (p.Met586Arg) c.1736T>G (p.Met579Arg) | |
12 | g.55954338A>G | CA385214834 | PMEL | c.1862T>C (p.Met621Thr) c.1883T>C (p.Met628Thr) n.441T>C c.749T>C (p.Met250Thr) c.1604T>C (p.Met535Thr) c.1757T>C (p.Met586Thr) c.1736T>C (p.Met579Thr) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.55954338A>T | CA385214835 | PMEL | c.1862T>A (p.Met621Lys) c.1883T>A (p.Met628Lys) n.441T>A c.749T>A (p.Met250Lys) c.1604T>A (p.Met535Lys) c.1757T>A (p.Met586Lys) c.1736T>A (p.Met579Lys) | |
12 | g.55954339T>A | CA385214836 | PMEL | c.1861A>T (p.Met621Leu) c.1882A>T (p.Met628Leu) n.440A>T c.748A>T (p.Met250Leu) c.1603A>T (p.Met535Leu) c.1756A>T (p.Met586Leu) c.1735A>T (p.Met579Leu) | |
12 | g.55954339T>C | CA385214837 | PMEL | c.1861A>G (p.Met621Val) c.1882A>G (p.Met628Val) n.440A>G c.748A>G (p.Met250Val) c.1603A>G (p.Met535Val) c.1756A>G (p.Met586Val) c.1735A>G (p.Met579Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.55954339T>G | CA385214838 | PMEL | c.1861A>C (p.Met621Leu) c.1882A>C (p.Met628Leu) n.440A>C c.748A>C (p.Met250Leu) c.1603A>C (p.Met535Leu) c.1756A>C (p.Met586Leu) c.1735A>C (p.Met579Leu) | |
12 | g.55954339T= | CA2038177668 | PMEL | c.1861A= (p.Met621=) c.1882A= (p.Met628=) n.440A= c.748A= (p.Met250=) c.1603A= (p.Met535=) c.1756A= (p.Met586=) c.1735A= (p.Met579=) | |
12 | g.55954340A= | CA2038177670 | PMEL | c.1860T= (p.Leu620=) c.1881T= (p.Leu627=) n.439T= c.747T= (p.Leu249=) c.1602T= (p.Leu534=) c.1755T= (p.Leu585=) c.1734T= (p.Leu578=) | |
12 | g.55954340A>C | CA480178612 | PMEL | c.1860T>G (p.Leu620=) c.1881T>G (p.Leu627=) n.439T>G c.747T>G (p.Leu249=) c.1602T>G (p.Leu534=) c.1755T>G (p.Leu585=) c.1734T>G (p.Leu578=) | |
12 | g.55954340A>G | CA480178613 | PMEL | c.1860T>C (p.Leu620=) c.1881T>C (p.Leu627=) n.439T>C c.747T>C (p.Leu249=) c.1602T>C (p.Leu534=) c.1755T>C (p.Leu585=) c.1734T>C (p.Leu578=) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.55954340A>T | CA480178615 | PMEL | c.1860T>A (p.Leu620=) c.1881T>A (p.Leu627=) n.439T>A c.747T>A (p.Leu249=) c.1602T>A (p.Leu534=) c.1755T>A (p.Leu585=) c.1734T>A (p.Leu578=) | |
12 | g.55954341A>C | CA385214841 | PMEL | c.1859T>G (p.Leu620Arg) c.1880T>G (p.Leu627Arg) n.438T>G c.746T>G (p.Leu249Arg) c.1601T>G (p.Leu534Arg) c.1754T>G (p.Leu585Arg) c.1733T>G (p.Leu578Arg) | gnomAD v4 |
12 | g.55954341A>G | CA385214840 | PMEL | c.1859T>C (p.Leu620Pro) c.1880T>C (p.Leu627Pro) n.438T>C c.746T>C (p.Leu249Pro) c.1601T>C (p.Leu534Pro) c.1754T>C (p.Leu585Pro) c.1733T>C (p.Leu578Pro) | |
12 | g.55954341A>T | CA385214839 | PMEL | c.1859T>A (p.Leu620His) c.1880T>A (p.Leu627His) n.438T>A c.746T>A (p.Leu249His) c.1601T>A (p.Leu534His) c.1754T>A (p.Leu585His) c.1733T>A (p.Leu578His) | |
12 | g.55954342G>A | CA6619821 | PMEL | c.1858C>T (p.Leu620Phe) c.1879C>T (p.Leu627Phe) n.437C>T c.745C>T (p.Leu249Phe) c.1600C>T (p.Leu534Phe) c.1753C>T (p.Leu585Phe) c.1732C>T (p.Leu578Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.55954342G>C | CA385214842 | PMEL | c.1858C>G (p.Leu620Val) c.1879C>G (p.Leu627Val) n.437C>G c.745C>G (p.Leu249Val) c.1600C>G (p.Leu534Val) c.1753C>G (p.Leu585Val) c.1732C>G (p.Leu578Val) | |
12 | g.55954342G= | CA2038177672 | PMEL | c.1858C= (p.Leu620=) c.1879C= (p.Leu627=) n.437C= c.745C= (p.Leu249=) c.1600C= (p.Leu534=) c.1753C= (p.Leu585=) c.1732C= (p.Leu578=) | |
12 | g.55954342G>T | CA385214843 | PMEL | c.1858C>A (p.Leu620Ile) c.1879C>A (p.Leu627Ile) n.437C>A c.745C>A (p.Leu249Ile) c.1600C>A (p.Leu534Ile) c.1753C>A (p.Leu585Ile) c.1732C>A (p.Leu578Ile) | |
12 | g.55954343T>A | CA385214844 | PMEL | c.1857A>T (p.Arg619Ser) c.1878A>T (p.Arg626Ser) n.436A>T c.744A>T (p.Arg248Ser) c.1599A>T (p.Arg533Ser) c.1752A>T (p.Arg584Ser) c.1731A>T (p.Arg577Ser) | |
12 | g.55954343T>C | CA480178624 | PMEL | c.1857A>G (p.Arg619=) c.1878A>G (p.Arg626=) n.436A>G c.744A>G (p.Arg248=) c.1599A>G (p.Arg533=) c.1752A>G (p.Arg584=) c.1731A>G (p.Arg577=) | |
12 | g.55954343T>G | CA385214845 | PMEL | c.1857A>C (p.Arg619Ser) c.1878A>C (p.Arg626Ser) n.436A>C c.744A>C (p.Arg248Ser) c.1599A>C (p.Arg533Ser) c.1752A>C (p.Arg584Ser) c.1731A>C (p.Arg577Ser) | |
12 | g.55954344C>A | CA385214846 | PMEL | c.1856G>T (p.Arg619Ile) c.1877G>T (p.Arg626Ile) n.435G>T c.743G>T (p.Arg248Ile) c.1598G>T (p.Arg533Ile) c.1751G>T (p.Arg584Ile) c.1730G>T (p.Arg577Ile) | |
12 | g.55954344C= | CA2038177676 | PMEL | c.1856G= (p.Arg619=) c.1877G= (p.Arg626=) n.435G= c.743G= (p.Arg248=) c.1598G= (p.Arg533=) c.1751G= (p.Arg584=) c.1730G= (p.Arg577=) | |
12 | g.55954344C>G | CA385214847 | PMEL | c.1856G>C (p.Arg619Thr) c.1877G>C (p.Arg626Thr) n.435G>C c.743G>C (p.Arg248Thr) c.1598G>C (p.Arg533Thr) c.1751G>C (p.Arg584Thr) c.1730G>C (p.Arg577Thr) | gnomAD v4 |
12 | g.55954344C>T | CA385214848 | PMEL | c.1856G>A (p.Arg619Lys) c.1877G>A (p.Arg626Lys) n.435G>A c.743G>A (p.Arg248Lys) c.1598G>A (p.Arg533Lys) c.1751G>A (p.Arg584Lys) c.1730G>A (p.Arg577Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.55954345T>A | CA385214849 | PMEL | c.1855A>T (p.Arg619Ter) c.1876A>T (p.Arg626Ter) n.434A>T c.742A>T (p.Arg248Ter) c.1597A>T (p.Arg533Ter) c.1750A>T (p.Arg584Ter) c.1729A>T (p.Arg577Ter) | |
12 | g.55954345T>C | CA385214850 | PMEL | c.1855A>G (p.Arg619Gly) c.1876A>G (p.Arg626Gly) n.434A>G c.742A>G (p.Arg248Gly) c.1597A>G (p.Arg533Gly) c.1750A>G (p.Arg584Gly) c.1729A>G (p.Arg577Gly) | |
12 | g.55954345T>G | CA480178631 | PMEL | c.1855A>C (p.Arg619=) c.1876A>C (p.Arg626=) n.434A>C c.742A>C (p.Arg248=) c.1597A>C (p.Arg533=) c.1750A>C (p.Arg584=) c.1729A>C (p.Arg577=) | |
12 | g.55954346G>A | CA480178636 | PMEL | c.1854C>T (p.Arg618=) c.1875C>T (p.Arg625=) n.433C>T c.741C>T (p.Arg247=) c.1596C>T (p.Arg532=) c.1749C>T (p.Arg583=) c.1728C>T (p.Arg576=) | gnomAD v4 |
12 | g.55954346G>C | CA480178637 | PMEL | c.1854C>G (p.Arg618=) c.1875C>G (p.Arg625=) n.433C>G c.741C>G (p.Arg247=) c.1596C>G (p.Arg532=) c.1749C>G (p.Arg583=) c.1728C>G (p.Arg576=) | |
12 | g.55954346G>T | CA480178633 | PMEL | c.1854C>A (p.Arg618=) c.1875C>A (p.Arg625=) n.433C>A c.741C>A (p.Arg247=) c.1596C>A (p.Arg532=) c.1749C>A (p.Arg583=) c.1728C>A (p.Arg576=) | |
12 | g.55954347C>A | CA385214851 | PMEL | c.1853G>T (p.Arg618Leu) c.1874G>T (p.Arg625Leu) n.432G>T c.740G>T (p.Arg247Leu) c.1595G>T (p.Arg532Leu) c.1748G>T (p.Arg583Leu) c.1727G>T (p.Arg576Leu) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.55954347C= | CA2038177681 | PMEL | c.1853G= (p.Arg618=) c.1874G= (p.Arg625=) n.432G= c.740G= (p.Arg247=) c.1595G= (p.Arg532=) c.1748G= (p.Arg583=) c.1727G= (p.Arg576=) | |
12 | g.55954347C>G | CA385214852 | PMEL | c.1853G>C (p.Arg618Pro) c.1874G>C (p.Arg625Pro) n.432G>C c.740G>C (p.Arg247Pro) c.1595G>C (p.Arg532Pro) c.1748G>C (p.Arg583Pro) c.1727G>C (p.Arg576Pro) | |
12 | g.55954347C>T | CA6619822 | PMEL | c.1853G>A (p.Arg618His) c.1874G>A (p.Arg625His) n.432G>A c.740G>A (p.Arg247His) c.1595G>A (p.Arg532His) c.1748G>A (p.Arg583His) c.1727G>A (p.Arg576His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
12 | g.55954348G>A | CA6619823 | PMEL | c.1852C>T (p.Arg618Cys) c.1873C>T (p.Arg625Cys) n.431C>T c.739C>T (p.Arg247Cys) c.1594C>T (p.Arg532Cys) c.1747C>T (p.Arg583Cys) c.1726C>T (p.Arg576Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.55954348G>C | CA385214853 | PMEL | c.1852C>G (p.Arg618Gly) c.1873C>G (p.Arg625Gly) n.431C>G c.739C>G (p.Arg247Gly) c.1594C>G (p.Arg532Gly) c.1747C>G (p.Arg583Gly) c.1726C>G (p.Arg576Gly) | |
12 | g.55954348G= | CA2038177686 | PMEL | c.1852C= (p.Arg618=) c.1873C= (p.Arg625=) n.431C= c.739C= (p.Arg247=) c.1594C= (p.Arg532=) c.1747C= (p.Arg583=) c.1726C= (p.Arg576=) | |
12 | g.55954348G>T | CA385214854 | PMEL | c.1852C>A (p.Arg618Ser) c.1873C>A (p.Arg625Ser) n.431C>A c.739C>A (p.Arg247Ser) c.1594C>A (p.Arg532Ser) c.1747C>A (p.Arg583Ser) c.1726C>A (p.Arg576Ser) | dbSNP gnomAD v3 gnomAD v4 |