| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.55954155G>A | CA690141498 | PMEL | c.*59C>T (n.*59C>T) | dbSNP gnomAD v4 |
| 12 | g.55954155G= | CA2038177373 | PMEL | c.*59C= (n.*59C=) | |
| 12 | g.55954155G>T | CA2575185593 | PMEL | c.*59C>A (n.*59C>A) | gnomAD v4 |
| 12 | g.55954159del | CA2619237725 | PMEL | c.*59del (n.*59del) | gnomAD v4 |
| 12 | g.55954156G>A | CA2619237726 | PMEL | c.*58C>T (n.*58C>T) | gnomAD v4 |
| 12 | g.55954156G>T | CA2619237727 | PMEL | c.*58C>A (n.*58C>A) | gnomAD v4 |
| 12 | g.55954157G>A | CA2038177377 | PMEL | c.*57C>T (n.*57C>T) | dbSNP |
| 12 | g.55954157G>C | CA2038177379 | PMEL | c.*57C>G (n.*57C>G) | dbSNP gnomAD v4 |
| 12 | g.55954157G= | CA2038177375 | PMEL | c.*57C= (n.*57C=) | |
| 12 | g.55954157G>T | CA2575185594 | PMEL | c.*57C>A (n.*57C>A) | gnomAD v4 |
| 12 | g.55954158G>A | CA2619237728 | PMEL | c.*56C>T (n.*56C>T) | gnomAD v4 |
| 12 | g.55954158G>T | CA2619237729 | PMEL | c.*56C>A (n.*56C>A) | gnomAD v4 |
| 12 | g.55954159G>A | CA605248675 | PMEL | c.*55C>T (n.*55C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.55954159G= | CA2038177382 | PMEL | c.*55C= (n.*55C=) | |
| 12 | g.55954159G>T | CA2619237731 | PMEL | c.*55C>A (n.*55C>A) | gnomAD v4 |
| 12 | g.55954161A= | CA2038177383 | PMEL | c.*53T= (n.*53T=) | |
| 12 | g.55954161A>G | CA947964258 | PMEL | c.*53T>C (n.*53T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.55954161A>T | CA2619237732 | PMEL | c.*53T>A (n.*53T>A) | gnomAD v4 |
| 12 | g.55954163del | CA2796095936 | PMEL | c.*51del (n.*51del) | |
| 12 | g.55954163T>C | CA6619793 | PMEL | c.*51A>G (n.*51A>G) | dbSNP ExAC gnomAD v2 |
| 12 | g.55954163T= | CA2038177384 | PMEL | c.*51A= (n.*51A=) | |
| 12 | g.55954164A>C | CA2619237734 | PMEL | c.*50T>G (n.*50T>G) | gnomAD v4 |
| 12 | g.55954164A>G | CA2619237736 | PMEL | c.*50T>C (n.*50T>C) | gnomAD v4 |
| 12 | g.55954165T>A | CA2038177387 | PMEL | c.*49A>T (n.*49A>T) | dbSNP |
| 12 | g.55954165T>C | CA6619794 | PMEL | c.*49A>G (n.*49A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.55954165T= | CA2038177385 | PMEL | c.*49A= (n.*49A=) | |
| 12 | g.55954166A>C | CA2619237743 | PMEL | c.*48T>G (n.*48T>G) | gnomAD v4 |
| 12 | g.55954167G>C | CA947964259 | PMEL | c.*47C>G (n.*47C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.55954167G= | CA2038177393 | PMEL | c.*47C= (n.*47C=) | |
| 12 | g.55954167G>T | CA2619237745 | PMEL | c.*47C>A (n.*47C>A) | gnomAD v4 |
| 12 | g.55954168del | CA2575185595 | PMEL | c.*47del (n.*47del) | |
| 12 | g.55954168G>A | CA2619237747 | PMEL | c.*46C>T (n.*46C>T) | gnomAD v4 |
| 12 | g.55954170G= | CA2038177396 | PMEL | c.*44C= (n.*44C=) | |
| 12 | g.55954170G>T | CA690141501 | PMEL | c.*44C>A (n.*44C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.55954174C>T | CA2619237749 | PMEL | c.*40G>A (n.*40G>A) | gnomAD v4 |
| 12 | g.55954175T>C | CA690141503 | PMEL | c.*39A>G (n.*39A>G) | dbSNP gnomAD v4 |
| 12 | g.55954175T= | CA2038177400 | PMEL | c.*39A= (n.*39A=) | |
| 12 | g.55954176G>C | CA6619795 | PMEL | c.*38C>G (n.*38C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.55954176G= | CA2038177402 | PMEL | c.*38C= (n.*38C=) | |
| 12 | g.55954176G>T | CA2619237755 | PMEL | c.*38C>A (n.*38C>A) | gnomAD v4 |
| 12 | g.55954177T>C | CA605248676 | PMEL | c.*37A>G (n.*37A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.55954177T= | CA2038177405 | PMEL | c.*37A= (n.*37A=) | |
| 12 | g.55954178C>T | CA2619237756 | PMEL | c.*36G>A (n.*36G>A) | gnomAD v4 |
| 12 | g.55954181C>G | CA2619237757 | PMEL | c.*33G>C (n.*33G>C) | gnomAD v4 |
| 12 | g.55954184del | CA2619237758 | PMEL | c.*31del (n.*31del) | gnomAD v4 |
| 12 | g.55954184C= | CA2038177407 | PMEL | c.*30G= (n.*30G=) | |
| 12 | g.55954184C>T | CA605248677 | PMEL | c.*30G>A (n.*30G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.55954185A= | CA2038177409 | PMEL | c.*29T= (n.*29T=) | |
| 12 | g.55954185A>G | CA690141508 | PMEL | c.*29T>C (n.*29T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.55954187G>A | CA6619796 | PMEL | c.*27C>T (n.*27C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.55954187G= | CA2038177410 | PMEL | c.*27C= (n.*27C=) | |
| 12 | g.55954191del | CA2619237766 | PMEL | c.*26del (n.*26del) | gnomAD v4 |
| 12 | g.55954190A= | CA2038177415 | PMEL | c.*24T= (n.*24T=) | |
| 12 | g.55954190A>G | CA2038177414 | PMEL | c.*24T>C (n.*24T>C) | dbSNP gnomAD v4 |
| 12 | g.55954193C>A | CA2619237772 | PMEL | c.*21G>T (n.*21G>T) | gnomAD v4 |
| 12 | g.55954193C= | CA2038177418 | PMEL | c.*21G= (n.*21G=) | |
| 12 | g.55954193C>T | CA6619797 | PMEL | c.*21G>A (n.*21G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.55954195C>A | CA2726240352 | PMEL | c.*19G>T (n.*19G>T) | dbSNP |
| 12 | g.55954195C>T | CA2619237778 | PMEL | c.*19G>A (n.*19G>A) | gnomAD v4 |
| 12 | g.55954197G>A | CA2619237780 | PMEL | c.*17C>T (n.*17C>T) | gnomAD v4 |
| 12 | g.55954198C= | CA2038177419 | PMEL | c.*16G= (n.*16G=) | |
| 12 | g.55954198C>T | CA2038177421 | PMEL | c.*16G>A (n.*16G>A) | dbSNP |
| 12 | g.55954199A>G | CA2619237781 | PMEL | c.*15T>C (n.*15T>C) | gnomAD v4 |
| 12 | g.55954200T>A | CA2619237782 | PMEL | c.*14A>T (n.*14A>T) | gnomAD v4 |
| 12 | g.55954201C= | CA2038177423 | PMEL | c.*13G= (n.*13G=) | |
| 12 | g.55954201C>T | CA2038177424 | PMEL | c.*13G>A (n.*13G>A) | dbSNP |
| 12 | g.55954202A= | CA2038177428 | PMEL | c.*12T= (n.*12T=) | |
| 12 | g.55954202A>G | CA237587752 | PMEL | c.*12T>C (n.*12T>C) | dbSNP gnomAD v4 |
| 12 | g.55954203T>C | CA2619237785 | PMEL | c.*11A>G (n.*11A>G) | gnomAD v4 |
| 12 | g.55954204A= | CA2038177430 | PMEL | c.*10T= (n.*10T=) | |
| 12 | g.55954204A>G | CA2038177432 | PMEL | c.*10T>C (n.*10T>C) | dbSNP gnomAD v4 |
| 12 | g.55954205T>C | CA6619798 | PMEL | c.*9A>G (n.*9A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.55954205T= | CA2038177434 | PMEL | c.*9A= (n.*9A=) | |
| 12 | g.55954206G>A | CA6619799 | PMEL | c.*8C>T (n.*8C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.55954206G= | CA2038177435 | PMEL | c.*8C= (n.*8C=) | |
| 12 | g.55954209_55954210del | CA2619237789 | PMEL | c.*7_*8del (n.*7_*8del) | gnomAD v4 |
| 12 | g.55954207A>G | CA2619237790 | PMEL | c.*7T>C (n.*7T>C) | gnomAD v4 |
| 12 | g.55954210G>A | CA947964264 | PMEL | c.*4C>T (n.*4C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.55954210G= | CA2038177439 | PMEL | c.*4C= (n.*4C=) | |
| 12 | g.55954211T>G | CA2619237791 | PMEL | c.*3A>C (n.*3A>C) | gnomAD v4 |
| 12 | g.55954212A= | CA2038177443 | PMEL | c.*2T= (n.*2T=) | |
| 12 | g.55954212A>G | CA605248678 | PMEL | c.*2T>C (n.*2T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.55954212A>T | CA2038177444 | PMEL | c.*2T>A (n.*2T>A) | dbSNP |
| 12 | g.55954213C= | CA2038177446 | PMEL | c.*1G= (n.*1G=) | |
| 12 | g.55954213C>G | CA947964290 | PMEL | c.*1G>C (n.*1G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.55954213C>T | CA2619237796 | PMEL | c.*1G>A (n.*1G>A) | gnomAD v4 |
| 12 | g.55954214T>A | CA385214561 | PMEL | c.1986A>T (p.Ter662Cys) c.2007A>T (p.Ter669Cys) c.873A>T (p.Ter291Cys) c.1728A>T (p.Ter576Cys) c.1881A>T (p.Ter627Cys) c.1860A>T (p.Ter620Cys) | |
| 12 | g.55954214T>C | CA385214559 | PMEL | c.1986A>G (p.Ter662Trp) c.2007A>G (p.Ter669Trp) c.873A>G (p.Ter291Trp) c.1728A>G (p.Ter576Trp) c.1881A>G (p.Ter627Trp) c.1860A>G (p.Ter620Trp) | gnomAD v4 |
| 12 | g.55954214T>G | CA385214560 | PMEL | c.1986A>C (p.Ter662Cys) c.2007A>C (p.Ter669Cys) c.873A>C (p.Ter291Cys) c.1728A>C (p.Ter576Cys) c.1881A>C (p.Ter627Cys) c.1860A>C (p.Ter620Cys) | gnomAD v4 |
| 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) |