UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.55954214_55954216delinsTCA | CA2038177450 | PMEL | c.1984_1986delinsTGA (p.Ter662=) c.2005_2007delinsTGA (p.Ter669=) c.871_873delinsTGA (p.Ter291=) c.1726_1728delinsTGA (p.Ter576=) c.1879_1881delinsTGA (p.Ter627=) c.1858_1860delinsTGA (p.Ter620=) | |
| 12 | g.55954215C>A | CA385214562 | PMEL | c.1985G>T (p.Ter662Leu) c.2006G>T (p.Ter669Leu) c.872G>T (p.Ter291Leu) c.1727G>T (p.Ter576Leu) c.1880G>T (p.Ter627Leu) c.1859G>T (p.Ter620Leu) | |
| 12 | g.55954215C>G | CA385214563 | PMEL | c.1985G>C (p.Ter662Ser) c.2006G>C (p.Ter669Ser) c.872G>C (p.Ter291Ser) c.1727G>C (p.Ter576Ser) c.1880G>C (p.Ter627Ser) c.1859G>C (p.Ter620Ser) | |
| 12 | g.55954215C>T | CA480178169 | PMEL | c.1985G>A (p.Ter662=) c.2006G>A (p.Ter669=) c.872G>A (p.Ter291=) c.1727G>A (p.Ter576=) c.1880G>A (p.Ter627=) c.1859G>A (p.Ter620=) | gnomAD v4 |
| 12 | g.55954215_55954216del | CA6619800 | PMEL | c.1984_1985del (p.Ter662SerextTer5) c.2005_2006del (p.Ter669SerextTer5) c.871_872del (p.Ter291SerextTer5) c.1726_1727del (p.Ter576SerextTer5) c.1879_1880del (p.Ter627SerextTer5) c.1858_1859del (p.Ter620SerextTer5) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.55954216A>C | CA385214564 | PMEL | c.1984T>G (p.Ter662Gly) c.2005T>G (p.Ter669Gly) c.871T>G (p.Ter291Gly) c.1726T>G (p.Ter576Gly) c.1879T>G (p.Ter627Gly) c.1858T>G (p.Ter620Gly) | |
| 12 | g.55954216A>G | CA385214565 | PMEL | c.1984T>C (p.Ter662Arg) c.2005T>C (p.Ter669Arg) c.871T>C (p.Ter291Arg) c.1726T>C (p.Ter576Arg) c.1879T>C (p.Ter627Arg) c.1858T>C (p.Ter620Arg) | |
| 12 | g.55954216A>T | CA385214566 | PMEL | c.1984T>A (p.Ter662Arg) c.2005T>A (p.Ter669Arg) c.871T>A (p.Ter291Arg) c.1726T>A (p.Ter576Arg) c.1879T>A (p.Ter627Arg) c.1858T>A (p.Ter620Arg) | |
| 12 | g.55954217G>A | CA480178176 | PMEL | c.1983C>T (p.Val661=) c.2004C>T (p.Val668=) c.870C>T (p.Val290=) c.1725C>T (p.Val575=) c.1878C>T (p.Val626=) c.1857C>T (p.Val619=) | |
| 12 | g.55954217G>C | CA480178178 | PMEL | c.1983C>G (p.Val661=) c.2004C>G (p.Val668=) c.870C>G (p.Val290=) c.1725C>G (p.Val575=) c.1878C>G (p.Val626=) c.1857C>G (p.Val619=) | gnomAD v4 |
| 12 | g.55954217G>T | CA480178179 | PMEL | c.1983C>A (p.Val661=) c.2004C>A (p.Val668=) c.870C>A (p.Val290=) c.1725C>A (p.Val575=) c.1878C>A (p.Val626=) c.1857C>A (p.Val619=) | gnomAD v4 |
| 12 | g.55954218A>C | CA385214567 | PMEL | c.1982T>G (p.Val661Gly) c.2003T>G (p.Val668Gly) c.869T>G (p.Val290Gly) c.1724T>G (p.Val575Gly) c.1877T>G (p.Val626Gly) c.1856T>G (p.Val619Gly) | |
| 12 | g.55954218A>G | CA385214568 | PMEL | c.1982T>C (p.Val661Ala) c.2003T>C (p.Val668Ala) c.869T>C (p.Val290Ala) c.1724T>C (p.Val575Ala) c.1877T>C (p.Val626Ala) c.1856T>C (p.Val619Ala) | |
| 12 | g.55954218A>T | CA385214569 | PMEL | c.1982T>A (p.Val661Asp) c.2003T>A (p.Val668Asp) c.869T>A (p.Val290Asp) c.1724T>A (p.Val575Asp) c.1877T>A (p.Val626Asp) c.1856T>A (p.Val619Asp) | |
| 12 | g.55954218_55954219insG | CA2563943389 | PMEL | c.1981_1982insC (p.Val661AlafsTer7) c.2002_2003insC (p.Val668AlafsTer7) c.868_869insC (p.Val290AlafsTer7) c.1723_1724insC (p.Val575AlafsTer7) c.1876_1877insC (p.Val626AlafsTer7) c.1855_1856insC (p.Val619AlafsTer7) | |
| 12 | g.55954219C>A | CA385214570 | PMEL | c.1981G>T (p.Val661Phe) c.2002G>T (p.Val668Phe) c.868G>T (p.Val290Phe) c.1723G>T (p.Val575Phe) c.1876G>T (p.Val626Phe) c.1855G>T (p.Val619Phe) | dbSNP |
| 12 | g.55954219C= | CA2038177458 | PMEL | c.1981G= (p.Val661=) c.2002G= (p.Val668=) c.868G= (p.Val290=) c.1723G= (p.Val575=) c.1876G= (p.Val626=) c.1855G= (p.Val619=) | |
| 12 | g.55954219C>G | CA385214571 | PMEL | c.1981G>C (p.Val661Leu) c.2002G>C (p.Val668Leu) c.868G>C (p.Val290Leu) c.1723G>C (p.Val575Leu) c.1876G>C (p.Val626Leu) c.1855G>C (p.Val619Leu) | |
| 12 | g.55954219C>T | CA385214572 | PMEL | c.1981G>A (p.Val661Ile) c.2002G>A (p.Val668Ile) c.868G>A (p.Val290Ile) c.1723G>A (p.Val575Ile) c.1876G>A (p.Val626Ile) c.1855G>A (p.Val619Ile) | |
| 12 | g.55954220C>A | CA385214574 | PMEL | c.1980G>T (p.Gln660His) c.2001G>T (p.Gln667His) c.867G>T (p.Gln289His) c.1722G>T (p.Gln574His) c.1875G>T (p.Gln625His) c.1854G>T (p.Gln618His) | gnomAD v4 |
| 12 | g.55954220C>G | CA385214573 | PMEL | c.1980G>C (p.Gln660His) c.2001G>C (p.Gln667His) c.867G>C (p.Gln289His) c.1722G>C (p.Gln574His) c.1875G>C (p.Gln625His) c.1854G>C (p.Gln618His) | |
| 12 | g.55954220C>T | CA480178189 | PMEL | c.1980G>A (p.Gln660=) c.2001G>A (p.Gln667=) c.867G>A (p.Gln289=) c.1722G>A (p.Gln574=) c.1875G>A (p.Gln625=) c.1854G>A (p.Gln618=) | |
| 12 | g.55954221T>A | CA385214575 | PMEL | c.1979A>T (p.Gln660Leu) c.2000A>T (p.Gln667Leu) c.866A>T (p.Gln289Leu) c.1721A>T (p.Gln574Leu) c.1874A>T (p.Gln625Leu) c.1853A>T (p.Gln618Leu) | |
| 12 | g.55954221T>C | CA385214577 | PMEL | c.1979A>G (p.Gln660Arg) c.2000A>G (p.Gln667Arg) c.866A>G (p.Gln289Arg) c.1721A>G (p.Gln574Arg) c.1874A>G (p.Gln625Arg) c.1853A>G (p.Gln618Arg) | gnomAD v4 |
| 12 | g.55954221T>G | CA385214576 | PMEL | c.1979A>C (p.Gln660Pro) c.2000A>C (p.Gln667Pro) c.866A>C (p.Gln289Pro) c.1721A>C (p.Gln574Pro) c.1874A>C (p.Gln625Pro) c.1853A>C (p.Gln618Pro) | |
| 12 | g.55954222G>A | CA385214578 | PMEL | c.1978C>T (p.Gln660Ter) c.1999C>T (p.Gln667Ter) c.865C>T (p.Gln289Ter) c.1720C>T (p.Gln574Ter) c.1873C>T (p.Gln625Ter) c.1852C>T (p.Gln618Ter) | |
| 12 | g.55954222G>C | CA385214579 | PMEL | c.1978C>G (p.Gln660Glu) c.1999C>G (p.Gln667Glu) c.865C>G (p.Gln289Glu) c.1720C>G (p.Gln574Glu) c.1873C>G (p.Gln625Glu) c.1852C>G (p.Gln618Glu) | dbSNP |
| 12 | g.55954222G= | CA2038177461 | PMEL | c.1978C= (p.Gln660=) c.1999C= (p.Gln667=) c.865C= (p.Gln289=) c.1720C= (p.Gln574=) c.1873C= (p.Gln625=) c.1852C= (p.Gln618=) | |
| 12 | g.55954222G>T | CA385214580 | PMEL | c.1978C>A (p.Gln660Lys) c.1999C>A (p.Gln667Lys) c.865C>A (p.Gln289Lys) c.1720C>A (p.Gln574Lys) c.1873C>A (p.Gln625Lys) c.1852C>A (p.Gln618Lys) | |
| 12 | g.55954223C>A | CA385214581 | PMEL | c.1977G>T (p.Gln659His) c.1998G>T (p.Gln666His) c.864G>T (p.Gln288His) c.1719G>T (p.Gln573His) c.1872G>T (p.Gln624His) c.1851G>T (p.Gln617His) | |
| 12 | g.55954223C>G | CA385214582 | PMEL | c.1977G>C (p.Gln659His) c.1998G>C (p.Gln666His) c.864G>C (p.Gln288His) c.1719G>C (p.Gln573His) c.1872G>C (p.Gln624His) c.1851G>C (p.Gln617His) | |
| 12 | g.55954223C>T | CA480178200 | PMEL | c.1977G>A (p.Gln659=) c.1998G>A (p.Gln666=) c.864G>A (p.Gln288=) c.1719G>A (p.Gln573=) c.1872G>A (p.Gln624=) c.1851G>A (p.Gln617=) | |
| 12 | g.55954224T>A | CA385214583 | PMEL | c.1976A>T (p.Gln659Leu) c.1997A>T (p.Gln666Leu) c.863A>T (p.Gln288Leu) c.1718A>T (p.Gln573Leu) c.1871A>T (p.Gln624Leu) c.1850A>T (p.Gln617Leu) | |
| 12 | g.55954224T>C | CA385214584 | PMEL | c.1976A>G (p.Gln659Arg) c.1997A>G (p.Gln666Arg) c.863A>G (p.Gln288Arg) c.1718A>G (p.Gln573Arg) c.1871A>G (p.Gln624Arg) c.1850A>G (p.Gln617Arg) | |
| 12 | g.55954224T>G | CA385214585 | PMEL | c.1976A>C (p.Gln659Pro) c.1997A>C (p.Gln666Pro) c.863A>C (p.Gln288Pro) c.1718A>C (p.Gln573Pro) c.1871A>C (p.Gln624Pro) c.1850A>C (p.Gln617Pro) | |
| 12 | g.55954225G>A | CA385214586 | PMEL | c.1975C>T (p.Gln659Ter) c.1996C>T (p.Gln666Ter) c.862C>T (p.Gln288Ter) c.1717C>T (p.Gln573Ter) c.1870C>T (p.Gln624Ter) c.1849C>T (p.Gln617Ter) | |
| 12 | g.55954225G>C | CA385214587 | PMEL | c.1975C>G (p.Gln659Glu) c.1996C>G (p.Gln666Glu) c.862C>G (p.Gln288Glu) c.1717C>G (p.Gln573Glu) c.1870C>G (p.Gln624Glu) c.1849C>G (p.Gln617Glu) | |
| 12 | g.55954225G= | CA2038177463 | PMEL | c.1975C= (p.Gln659=) c.1996C= (p.Gln666=) c.862C= (p.Gln288=) c.1717C= (p.Gln573=) c.1870C= (p.Gln624=) c.1849C= (p.Gln617=) | |
| 12 | g.55954225G>T | CA6619801 | PMEL | c.1975C>A (p.Gln659Lys) c.1996C>A (p.Gln666Lys) c.862C>A (p.Gln288Lys) c.1717C>A (p.Gln573Lys) c.1870C>A (p.Gln624Lys) c.1849C>A (p.Gln617Lys) | dbSNP ExAC gnomAD v4 |
| 12 | g.55954226C>A | CA480178209 | PMEL | c.1974G>T (p.Gly658=) c.1995G>T (p.Gly665=) c.861G>T (p.Gly287=) c.1716G>T (p.Gly572=) c.1869G>T (p.Gly623=) c.1848G>T (p.Gly616=) | |
| 12 | g.55954226C>G | CA480178210 | PMEL | c.1974G>C (p.Gly658=) c.1995G>C (p.Gly665=) c.861G>C (p.Gly287=) c.1716G>C (p.Gly572=) c.1869G>C (p.Gly623=) c.1848G>C (p.Gly616=) | |
| 12 | g.55954226C>T | CA480178212 | PMEL | c.1974G>A (p.Gly658=) c.1995G>A (p.Gly665=) c.861G>A (p.Gly287=) c.1716G>A (p.Gly572=) c.1869G>A (p.Gly623=) c.1848G>A (p.Gly616=) | gnomAD v4 |
| 12 | g.55954227C>A | CA385214590 | PMEL | c.1973G>T (p.Gly658Val) c.1994G>T (p.Gly665Val) c.860G>T (p.Gly287Val) c.1715G>T (p.Gly572Val) c.1868G>T (p.Gly623Val) c.1847G>T (p.Gly616Val) | |
| 12 | g.55954227C>G | CA385214588 | PMEL | c.1973G>C (p.Gly658Ala) c.1994G>C (p.Gly665Ala) c.860G>C (p.Gly287Ala) c.1715G>C (p.Gly572Ala) c.1868G>C (p.Gly623Ala) c.1847G>C (p.Gly616Ala) | |
| 12 | g.55954227C>T | CA385214589 | PMEL | c.1973G>A (p.Gly658Glu) c.1994G>A (p.Gly665Glu) c.860G>A (p.Gly287Glu) c.1715G>A (p.Gly572Glu) c.1868G>A (p.Gly623Glu) c.1847G>A (p.Gly616Glu) | gnomAD v4 |
| 12 | g.55954228C>A | CA385214591 | PMEL | c.1972G>T (p.Gly658Trp) c.1993G>T (p.Gly665Trp) c.859G>T (p.Gly287Trp) c.1714G>T (p.Gly572Trp) c.1867G>T (p.Gly623Trp) c.1846G>T (p.Gly616Trp) | |
| 12 | g.55954228C>G | CA385214592 | PMEL | c.1972G>C (p.Gly658Arg) c.1993G>C (p.Gly665Arg) c.859G>C (p.Gly287Arg) c.1714G>C (p.Gly572Arg) c.1867G>C (p.Gly623Arg) c.1846G>C (p.Gly616Arg) | |
| 12 | g.55954228C>T | CA385214593 | PMEL | c.1972G>A (p.Gly658Arg) c.1993G>A (p.Gly665Arg) c.859G>A (p.Gly287Arg) c.1714G>A (p.Gly572Arg) c.1867G>A (p.Gly623Arg) c.1846G>A (p.Gly616Arg) | |
| 12 | g.55954229A= | CA2038177466 | PMEL | c.1971T= (p.Ser657=) c.1992T= (p.Ser664=) c.858T= (p.Ser286=) c.1713T= (p.Ser571=) c.1866T= (p.Ser622=) c.1845T= (p.Ser615=) | |
| 12 | g.55954229A>C | CA385214594 | PMEL | c.1971T>G (p.Ser657Arg) c.1992T>G (p.Ser664Arg) c.858T>G (p.Ser286Arg) c.1713T>G (p.Ser571Arg) c.1866T>G (p.Ser622Arg) c.1845T>G (p.Ser615Arg) | dbSNP gnomAD v4 |
| 12 | g.55954229A>G | CA480178221 | PMEL | c.1971T>C (p.Ser657=) c.1992T>C (p.Ser664=) c.858T>C (p.Ser286=) c.1713T>C (p.Ser571=) c.1866T>C (p.Ser622=) c.1845T>C (p.Ser615=) | |
| 12 | g.55954229A>T | CA237587763 | PMEL | c.1971T>A (p.Ser657Arg) c.1992T>A (p.Ser664Arg) c.858T>A (p.Ser286Arg) c.1713T>A (p.Ser571Arg) c.1866T>A (p.Ser622Arg) c.1845T>A (p.Ser615Arg) | dbSNP |
| 12 | g.55954230C>A | CA385214595 | PMEL | c.1970G>T (p.Ser657Ile) c.1991G>T (p.Ser664Ile) c.857G>T (p.Ser286Ile) c.1712G>T (p.Ser571Ile) c.1865G>T (p.Ser622Ile) c.1844G>T (p.Ser615Ile) | |
| 12 | g.55954230C>G | CA385214596 | PMEL | c.1970G>C (p.Ser657Thr) c.1991G>C (p.Ser664Thr) c.857G>C (p.Ser286Thr) c.1712G>C (p.Ser571Thr) c.1865G>C (p.Ser622Thr) c.1844G>C (p.Ser615Thr) | |
| 12 | g.55954230C>T | CA385214597 | PMEL | c.1970G>A (p.Ser657Asn) c.1991G>A (p.Ser664Asn) c.857G>A (p.Ser286Asn) c.1712G>A (p.Ser571Asn) c.1865G>A (p.Ser622Asn) c.1844G>A (p.Ser615Asn) | COSMIC COSMIC |
| 12 | g.55954231T>A | CA385214598 | PMEL | c.1969A>T (p.Ser657Cys) c.1990A>T (p.Ser664Cys) c.856A>T (p.Ser286Cys) c.1711A>T (p.Ser571Cys) c.1864A>T (p.Ser622Cys) c.1843A>T (p.Ser615Cys) | |
| 12 | g.55954231T>C | CA6619802 | PMEL | c.1969A>G (p.Ser657Gly) c.1990A>G (p.Ser664Gly) c.856A>G (p.Ser286Gly) c.1711A>G (p.Ser571Gly) c.1864A>G (p.Ser622Gly) c.1843A>G (p.Ser615Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.55954231T>G | CA385214599 | PMEL | c.1969A>C (p.Ser657Arg) c.1990A>C (p.Ser664Arg) c.856A>C (p.Ser286Arg) c.1711A>C (p.Ser571Arg) c.1864A>C (p.Ser622Arg) c.1843A>C (p.Ser615Arg) | dbSNP |
| 12 | g.55954231T= | CA2038177470 | PMEL | c.1969A= (p.Ser657=) c.1990A= (p.Ser664=) c.856A= (p.Ser286=) c.1711A= (p.Ser571=) c.1864A= (p.Ser622=) c.1843A= (p.Ser615=) | |
| 12 | g.55954231_55954234delinsTGAG | CA2038177468 | PMEL | c.1966_1969delinsCTCA (p.Leu656=) c.1987_1990delinsCTCA (p.Leu663=) c.853_856delinsCTCA (p.Leu285=) c.1708_1711delinsCTCA (p.Leu570=) c.1861_1864delinsCTCA (p.Leu621=) c.1840_1843delinsCTCA (p.Leu614=) | |
| 12 | g.55954232G>A | CA480178231 | PMEL | c.1968C>T (p.Leu656=) c.1989C>T (p.Leu663=) c.855C>T (p.Leu285=) c.1710C>T (p.Leu570=) c.1863C>T (p.Leu621=) c.1842C>T (p.Leu614=) | gnomAD v4 |
| 12 | g.55954232G>C | CA480178233 | PMEL | c.1968C>G (p.Leu656=) c.1989C>G (p.Leu663=) c.855C>G (p.Leu285=) c.1710C>G (p.Leu570=) c.1863C>G (p.Leu621=) c.1842C>G (p.Leu614=) | |
| 12 | g.55954232G>T | CA480178235 | PMEL | c.1968C>A (p.Leu656=) c.1989C>A (p.Leu663=) c.855C>A (p.Leu285=) c.1710C>A (p.Leu570=) c.1863C>A (p.Leu621=) c.1842C>A (p.Leu614=) | |
| 12 | g.55954236_55954238del | CA947964295 | PMEL | c.1966_1968del (p.Leu656del) c.1987_1989del (p.Leu663del) c.853_855del (p.Leu285del) c.1708_1710del (p.Leu570del) c.1861_1863del (p.Leu621del) c.1840_1842del (p.Leu614del) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.55954233A= | CA2038177475 | PMEL | c.1967T= (p.Leu656=) c.1988T= (p.Leu663=) c.854T= (p.Leu285=) c.1709T= (p.Leu570=) c.1862T= (p.Leu621=) c.1841T= (p.Leu614=) | |
| 12 | g.55954233A>C | CA385214601 | PMEL | c.1967T>G (p.Leu656Arg) c.1988T>G (p.Leu663Arg) c.854T>G (p.Leu285Arg) c.1709T>G (p.Leu570Arg) c.1862T>G (p.Leu621Arg) c.1841T>G (p.Leu614Arg) | |
| 12 | g.55954233A>G | CA385214602 | PMEL | c.1967T>C (p.Leu656Pro) c.1988T>C (p.Leu663Pro) c.854T>C (p.Leu285Pro) c.1709T>C (p.Leu570Pro) c.1862T>C (p.Leu621Pro) c.1841T>C (p.Leu614Pro) | dbSNP |
| 12 | g.55954233A>T | CA385214600 | PMEL | c.1967T>A (p.Leu656His) c.1988T>A (p.Leu663His) c.854T>A (p.Leu285His) c.1709T>A (p.Leu570His) c.1862T>A (p.Leu621His) c.1841T>A (p.Leu614His) | gnomAD v4 |
| 12 | g.55954234G>A | CA385214603 | PMEL | c.1966C>T (p.Leu656Phe) c.1987C>T (p.Leu663Phe) c.853C>T (p.Leu285Phe) c.1708C>T (p.Leu570Phe) c.1861C>T (p.Leu621Phe) c.1840C>T (p.Leu614Phe) | dbSNP gnomAD v4 |
| 12 | g.55954234G>C | CA385214604 | PMEL | c.1966C>G (p.Leu656Val) c.1987C>G (p.Leu663Val) c.853C>G (p.Leu285Val) c.1708C>G (p.Leu570Val) c.1861C>G (p.Leu621Val) c.1840C>G (p.Leu614Val) | |
| 12 | g.55954234G>T | CA385214605 | PMEL | c.1966C>A (p.Leu656Ile) c.1987C>A (p.Leu663Ile) c.853C>A (p.Leu285Ile) c.1708C>A (p.Leu570Ile) c.1861C>A (p.Leu621Ile) c.1840C>A (p.Leu614Ile) | |
| 12 | g.55954235G>A | CA480178248 | PMEL | c.1965C>T (p.Leu655=) c.1986C>T (p.Leu662=) c.852C>T (p.Leu284=) c.1707C>T (p.Leu569=) c.1860C>T (p.Leu620=) c.1839C>T (p.Leu613=) | gnomAD v4 |
| 12 | g.55954235G>C | CA480178246 | PMEL | c.1965C>G (p.Leu655=) c.1986C>G (p.Leu662=) c.852C>G (p.Leu284=) c.1707C>G (p.Leu569=) c.1860C>G (p.Leu620=) c.1839C>G (p.Leu613=) | |
| 12 | g.55954235G>T | CA480178244 | PMEL | c.1965C>A (p.Leu655=) c.1986C>A (p.Leu662=) c.852C>A (p.Leu284=) c.1707C>A (p.Leu569=) c.1860C>A (p.Leu620=) c.1839C>A (p.Leu613=) | |
| 12 | g.55954236A>C | CA385214606 | PMEL | c.1964T>G (p.Leu655Arg) c.1985T>G (p.Leu662Arg) c.851T>G (p.Leu284Arg) c.1706T>G (p.Leu569Arg) c.1859T>G (p.Leu620Arg) c.1838T>G (p.Leu613Arg) | |
| 12 | g.55954236A>G | CA385214607 | PMEL | c.1964T>C (p.Leu655Pro) c.1985T>C (p.Leu662Pro) c.851T>C (p.Leu284Pro) c.1706T>C (p.Leu569Pro) c.1859T>C (p.Leu620Pro) c.1838T>C (p.Leu613Pro) | |
| 12 | g.55954236A>T | CA385214608 | PMEL | c.1964T>A (p.Leu655His) c.1985T>A (p.Leu662His) c.851T>A (p.Leu284His) c.1706T>A (p.Leu569His) c.1859T>A (p.Leu620His) c.1838T>A (p.Leu613His) | |
| 12 | g.55954237G>A | CA385214609 | PMEL | c.1963C>T (p.Leu655Phe) c.1984C>T (p.Leu662Phe) c.850C>T (p.Leu284Phe) c.1705C>T (p.Leu569Phe) c.1858C>T (p.Leu620Phe) c.1837C>T (p.Leu613Phe) | gnomAD v4 |
| 12 | g.55954237G>C | CA385214610 | PMEL | c.1963C>G (p.Leu655Val) c.1984C>G (p.Leu662Val) c.850C>G (p.Leu284Val) c.1705C>G (p.Leu569Val) c.1858C>G (p.Leu620Val) c.1837C>G (p.Leu613Val) | |
| 12 | g.55954237G>T | CA385214611 | PMEL | c.1963C>A (p.Leu655Ile) c.1984C>A (p.Leu662Ile) c.850C>A (p.Leu284Ile) c.1705C>A (p.Leu569Ile) c.1858C>A (p.Leu620Ile) c.1837C>A (p.Leu613Ile) | |
| 12 | g.55954238G>A | CA480178256 | PMEL | c.1962C>T (p.Pro654=) c.1983C>T (p.Pro661=) c.849C>T (p.Pro283=) c.1704C>T (p.Pro568=) c.1857C>T (p.Pro619=) c.1836C>T (p.Pro612=) | dbSNP |
| 12 | g.55954238G>C | CA480178258 | PMEL | c.1962C>G (p.Pro654=) c.1983C>G (p.Pro661=) c.849C>G (p.Pro283=) c.1704C>G (p.Pro568=) c.1857C>G (p.Pro619=) c.1836C>G (p.Pro612=) | dbSNP |
| 12 | g.55954238G= | CA2038177478 | PMEL | c.1962C= (p.Pro654=) c.1983C= (p.Pro661=) c.849C= (p.Pro283=) c.1704C= (p.Pro568=) c.1857C= (p.Pro619=) c.1836C= (p.Pro612=) | |
| 12 | g.55954238G>T | CA480178260 | PMEL | c.1962C>A (p.Pro654=) c.1983C>A (p.Pro661=) c.849C>A (p.Pro283=) c.1704C>A (p.Pro568=) c.1857C>A (p.Pro619=) c.1836C>A (p.Pro612=) | gnomAD v4 |
| 12 | g.55954239G>A | CA6619803 | PMEL | c.1961C>T (p.Pro654Leu) c.1982C>T (p.Pro661Leu) c.848C>T (p.Pro283Leu) c.1703C>T (p.Pro568Leu) c.1856C>T (p.Pro619Leu) c.1835C>T (p.Pro612Leu) | dbSNP ExAC gnomAD v4 |
| 12 | g.55954239G>C | CA385214612 | PMEL | c.1961C>G (p.Pro654Arg) c.1982C>G (p.Pro661Arg) c.848C>G (p.Pro283Arg) c.1703C>G (p.Pro568Arg) c.1856C>G (p.Pro619Arg) c.1835C>G (p.Pro612Arg) | |
| 12 | g.55954239G= | CA2038177480 | PMEL | c.1961C= (p.Pro654=) c.1982C= (p.Pro661=) c.848C= (p.Pro283=) c.1703C= (p.Pro568=) c.1856C= (p.Pro619=) c.1835C= (p.Pro612=) | |
| 12 | g.55954239G>T | CA385214613 | PMEL | c.1961C>A (p.Pro654His) c.1982C>A (p.Pro661His) c.848C>A (p.Pro283His) c.1703C>A (p.Pro568His) c.1856C>A (p.Pro619His) c.1835C>A (p.Pro612His) | |
| 12 | g.55954240G>A | CA385214615 | PMEL | c.1960C>T (p.Pro654Ser) c.1981C>T (p.Pro661Ser) c.847C>T (p.Pro283Ser) c.1702C>T (p.Pro568Ser) c.1855C>T (p.Pro619Ser) c.1834C>T (p.Pro612Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.55954240G>C | CA385214616 | PMEL | c.1960C>G (p.Pro654Ala) c.1981C>G (p.Pro661Ala) c.847C>G (p.Pro283Ala) c.1702C>G (p.Pro568Ala) c.1855C>G (p.Pro619Ala) c.1834C>G (p.Pro612Ala) | gnomAD v4 |
| 12 | g.55954240G= | CA2038177485 | PMEL | c.1960C= (p.Pro654=) c.1981C= (p.Pro661=) c.847C= (p.Pro283=) c.1702C= (p.Pro568=) c.1855C= (p.Pro619=) c.1834C= (p.Pro612=) | |
| 12 | g.55954240G>T | CA385214614 | PMEL | c.1960C>A (p.Pro654Thr) c.1981C>A (p.Pro661Thr) c.847C>A (p.Pro283Thr) c.1702C>A (p.Pro568Thr) c.1855C>A (p.Pro619Thr) c.1834C>A (p.Pro612Thr) | |
| 12 | g.55954241G>A | CA480178270 | PMEL | c.1959C>T (p.Ser653=) c.1980C>T (p.Ser660=) c.846C>T (p.Ser282=) c.1701C>T (p.Ser567=) c.1854C>T (p.Ser618=) c.1833C>T (p.Ser611=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.55954241G>C | CA385214617 | PMEL | c.1959C>G (p.Ser653Arg) c.1980C>G (p.Ser660Arg) c.846C>G (p.Ser282Arg) c.1701C>G (p.Ser567Arg) c.1854C>G (p.Ser618Arg) c.1833C>G (p.Ser611Arg) | |
| 12 | g.55954241G= | CA2038177489 | PMEL | c.1959C= (p.Ser653=) c.1980C= (p.Ser660=) c.846C= (p.Ser282=) c.1701C= (p.Ser567=) c.1854C= (p.Ser618=) c.1833C= (p.Ser611=) | |
| 12 | g.55954241G>T | CA385214618 | PMEL | c.1959C>A (p.Ser653Arg) c.1980C>A (p.Ser660Arg) c.846C>A (p.Ser282Arg) c.1701C>A (p.Ser567Arg) c.1854C>A (p.Ser618Arg) c.1833C>A (p.Ser611Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.55954242C>A | CA385214619 | PMEL | c.1958G>T (p.Ser653Ile) c.1979G>T (p.Ser660Ile) c.845G>T (p.Ser282Ile) c.1700G>T (p.Ser567Ile) c.1853G>T (p.Ser618Ile) c.1832G>T (p.Ser611Ile) | |
| 12 | g.55954242C>G | CA385214620 | PMEL | c.1958G>C (p.Ser653Thr) c.1979G>C (p.Ser660Thr) c.845G>C (p.Ser282Thr) c.1700G>C (p.Ser567Thr) c.1853G>C (p.Ser618Thr) c.1832G>C (p.Ser611Thr) | |
| 12 | g.55954242C>T | CA385214621 | PMEL | c.1958G>A (p.Ser653Asn) c.1979G>A (p.Ser660Asn) c.845G>A (p.Ser282Asn) c.1700G>A (p.Ser567Asn) c.1853G>A (p.Ser618Asn) c.1832G>A (p.Ser611Asn) | COSMIC COSMIC |
| 12 | g.55954243T>A | CA385214624 | PMEL | c.1957A>T (p.Ser653Cys) c.1978A>T (p.Ser660Cys) c.844A>T (p.Ser282Cys) c.1699A>T (p.Ser567Cys) c.1852A>T (p.Ser618Cys) c.1831A>T (p.Ser611Cys) | |
| 12 | g.55954243T>C | CA385214623 | PMEL | c.1957A>G (p.Ser653Gly) c.1978A>G (p.Ser660Gly) c.844A>G (p.Ser282Gly) c.1699A>G (p.Ser567Gly) c.1852A>G (p.Ser618Gly) c.1831A>G (p.Ser611Gly) | gnomAD v4 |
| 12 | g.55954243T>G | CA385214622 | PMEL | c.1957A>C (p.Ser653Arg) c.1978A>C (p.Ser660Arg) c.844A>C (p.Ser282Arg) c.1699A>C (p.Ser567Arg) c.1852A>C (p.Ser618Arg) c.1831A>C (p.Ser611Arg) | |
| 12 | g.55954244G>A | CA6619804 | PMEL | c.1956C>T (p.Asn652=) c.1977C>T (p.Asn659=) c.843C>T (p.Asn281=) c.1698C>T (p.Asn566=) c.1851C>T (p.Asn617=) c.1830C>T (p.Asn610=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.55954244G>C | CA385214625 | PMEL | c.1956C>G (p.Asn652Lys) c.1977C>G (p.Asn659Lys) c.843C>G (p.Asn281Lys) c.1698C>G (p.Asn566Lys) c.1851C>G (p.Asn617Lys) c.1830C>G (p.Asn610Lys) | |
| 12 | g.55954244G= | CA2038177494 | PMEL | c.1956C= (p.Asn652=) c.1977C= (p.Asn659=) c.843C= (p.Asn281=) c.1698C= (p.Asn566=) c.1851C= (p.Asn617=) c.1830C= (p.Asn610=) | |
| 12 | g.55954244G>T | CA385214626 | PMEL | c.1956C>A (p.Asn652Lys) c.1977C>A (p.Asn659Lys) c.843C>A (p.Asn281Lys) c.1698C>A (p.Asn566Lys) c.1851C>A (p.Asn617Lys) c.1830C>A (p.Asn610Lys) | |
| 12 | g.55954245T>A | CA237587775 | PMEL | c.1955A>T (p.Asn652Ile) c.1976A>T (p.Asn659Ile) c.842A>T (p.Asn281Ile) c.1697A>T (p.Asn566Ile) c.1850A>T (p.Asn617Ile) c.1829A>T (p.Asn610Ile) | dbSNP |
| 12 | g.55954245T>C | CA385214627 | PMEL | c.1955A>G (p.Asn652Ser) c.1976A>G (p.Asn659Ser) c.842A>G (p.Asn281Ser) c.1697A>G (p.Asn566Ser) c.1850A>G (p.Asn617Ser) c.1829A>G (p.Asn610Ser) | |
| 12 | g.55954245T>G | CA237587777 | PMEL | c.1955A>C (p.Asn652Thr) c.1976A>C (p.Asn659Thr) c.842A>C (p.Asn281Thr) c.1697A>C (p.Asn566Thr) c.1850A>C (p.Asn617Thr) c.1829A>C (p.Asn610Thr) | dbSNP |
| 12 | g.55954245T= | CA2038177498 | PMEL | c.1955A= (p.Asn652=) c.1976A= (p.Asn659=) c.842A= (p.Asn281=) c.1697A= (p.Asn566=) c.1850A= (p.Asn617=) c.1829A= (p.Asn610=) | |
| 12 | g.55954246T>A | CA385214630 | PMEL | c.1954A>T (p.Asn652Tyr) c.1975A>T (p.Asn659Tyr) c.841A>T (p.Asn281Tyr) c.1696A>T (p.Asn566Tyr) c.1849A>T (p.Asn617Tyr) c.1828A>T (p.Asn610Tyr) | |
| 12 | g.55954246T>C | CA385214629 | PMEL | c.1954A>G (p.Asn652Asp) c.1975A>G (p.Asn659Asp) c.841A>G (p.Asn281Asp) c.1696A>G (p.Asn566Asp) c.1849A>G (p.Asn617Asp) c.1828A>G (p.Asn610Asp) | |
| 12 | g.55954246T>G | CA385214628 | PMEL | c.1954A>C (p.Asn652His) c.1975A>C (p.Asn659His) c.841A>C (p.Asn281His) c.1696A>C (p.Asn566His) c.1849A>C (p.Asn617His) c.1828A>C (p.Asn610His) | |
| 12 | g.55954247C>A | CA385214631 | PMEL | c.1953G>T (p.Glu651Asp) c.1974G>T (p.Glu658Asp) c.840G>T (p.Glu280Asp) c.1695G>T (p.Glu565Asp) c.1848G>T (p.Glu616Asp) c.1827G>T (p.Glu609Asp) | |
| 12 | g.55954247C>G | CA385214632 | PMEL | c.1953G>C (p.Glu651Asp) c.1974G>C (p.Glu658Asp) c.840G>C (p.Glu280Asp) c.1695G>C (p.Glu565Asp) c.1848G>C (p.Glu616Asp) c.1827G>C (p.Glu609Asp) | |
| 12 | g.55954247C>T | CA480178289 | PMEL | c.1953G>A (p.Glu651=) c.1974G>A (p.Glu658=) c.840G>A (p.Glu280=) c.1695G>A (p.Glu565=) c.1848G>A (p.Glu616=) c.1827G>A (p.Glu609=) | gnomAD v4 |
| 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.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) | 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.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.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) | 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) |