| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) |