Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.55954116G>A | CA2038177341 | PMEL | c.*98C>T (n.*98C>T) | dbSNP gnomAD v4 |
12 | g.55954116G= | CA2038177339 | PMEL | c.*98C= (n.*98C=) | |
12 | g.55954116G>T | CA2575185580 | PMEL | c.*98C>A (n.*98C>A) | gnomAD v4 |
12 | g.55954118A= | CA2038177343 | PMEL | c.*96T= (n.*96T=) | |
12 | g.55954118A>G | CA237587718 | PMEL | c.*96T>C (n.*96T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.55954118A>T | CA2575185581 | PMEL | c.*96T>A (n.*96T>A) | |
12 | g.55954119T>G | CA2796095935 | PMEL | c.*95A>C (n.*95A>C) | |
12 | g.55954122A= | CA2038177345 | PMEL | c.*92T= (n.*92T=) | |
12 | g.55954122A>T | CA2038177346 | PMEL | c.*92T>A (n.*92T>A) | dbSNP |
12 | g.55954123T>C | CA237587724 | PMEL | c.*91A>G (n.*91A>G) | dbSNP gnomAD v4 |
12 | g.55954123T= | CA2038177349 | PMEL | c.*91A= (n.*91A=) | |
12 | g.55954124T>C | CA2619237699 | PMEL | c.*90A>G (n.*90A>G) | gnomAD v4 |
12 | g.55954126C>A | CA2575185582 | PMEL | c.*88G>T (n.*88G>T) | |
12 | g.55954126C>T | CA2619237702 | PMEL | c.*88G>A (n.*88G>A) | gnomAD v4 |
12 | g.55954127del | CA2619237704 | PMEL | c.*87del (n.*87del) | gnomAD v4 |
12 | g.55954127A= | CA2038177352 | PMEL | c.*87T= (n.*87T=) | |
12 | g.55954127A>G | CA690141486 | PMEL | c.*87T>C (n.*87T>C) | dbSNP gnomAD v4 |
12 | g.55954128G>A | CA2619237707 | PMEL | c.*86C>T (n.*86C>T) | gnomAD v4 |
12 | g.55954128G>T | CA2575185583 | PMEL | c.*86C>A (n.*86C>A) | gnomAD v4 |
12 | g.55954129T>G | CA2619237710 | PMEL | c.*85A>C (n.*85A>C) | gnomAD v4 |
12 | g.55954132_55954134del | CA2575185584 | PMEL | c.*82_*84del (n.*82_*84del) | |
12 | g.55954131A= | CA2038177354 | PMEL | c.*83T= (n.*83T=) | |
12 | g.55954131A>G | CA690141487 | PMEL | c.*83T>C (n.*83T>C) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.55954131A>T | CA2575185585 | PMEL | c.*83T>A (n.*83T>A) | gnomAD v4 |
12 | g.55954132A>G | CA2619237713 | PMEL | c.*82T>C (n.*82T>C) | gnomAD v4 |
12 | g.55954133T>C | CA2575185586 | PMEL | c.*81A>G (n.*81A>G) | gnomAD v4 |
12 | g.55954137_55954139del | CA2619237714 | PMEL | c.*79_*81del (n.*79_*81del) | gnomAD v4 |
12 | g.55954134A= | CA2038177355 | PMEL | c.*80T= (n.*80T=) | |
12 | g.55954134A>G | CA947964255 | PMEL | c.*80T>C (n.*80T>C) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.55954135G>C | CA655047472 | PMEL | c.*79C>G (n.*79C>G) | dbSNP gnomAD v4 COSMIC |
12 | g.55954135G= | CA2038177356 | PMEL | c.*79C= (n.*79C=) | |
12 | g.55954135G>T | CA2619237715 | PMEL | c.*79C>A (n.*79C>A) | gnomAD v4 |
12 | g.55954136T>C | CA2038177358 | PMEL | c.*78A>G (n.*78A>G) | dbSNP gnomAD v4 |
12 | g.55954136T= | CA2038177357 | PMEL | c.*78A= (n.*78A=) | |
12 | g.55954137A= | CA2038177361 | PMEL | c.*77T= (n.*77T=) | |
12 | g.55954137A>G | CA690141490 | PMEL | c.*77T>C (n.*77T>C) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.55954138G>A | CA2619237716 | PMEL | c.*76C>T (n.*76C>T) | gnomAD v4 |
12 | g.55954138G>T | CA2619237717 | PMEL | c.*76C>A (n.*76C>A) | gnomAD v4 |
12 | g.55954140C>A | CA2619237718 | PMEL | c.*74G>T (n.*74G>T) | gnomAD v4 |
12 | g.55954142C= | CA2038177363 | PMEL | c.*72G= (n.*72G=) | |
12 | g.55954142C>T | CA237587726 | PMEL | c.*72G>A (n.*72G>A) | dbSNP gnomAD v4 |
12 | g.55954144del | CA2575185587 | PMEL | c.*72del (n.*72del) | gnomAD v4 |
12 | g.55954143C>A | CA2619237719 | PMEL | c.*71G>T (n.*71G>T) | gnomAD v4 |
12 | g.55954143C= | CA2038177365 | PMEL | c.*71G= (n.*71G=) | |
12 | g.55954143C>T | CA237587728 | PMEL | c.*71G>A (n.*71G>A) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.55954144C>A | CA2575185588 | PMEL | c.*70G>T (n.*70G>T) | gnomAD v4 |
12 | g.55954145del | CA2575185589 | PMEL | c.*69del (n.*69del) | |
12 | g.55954145A>T | CA2575185590 | PMEL | c.*69T>A (n.*69T>A) | |
12 | g.55954146G>T | CA2619237720 | PMEL | c.*68C>A (n.*68C>A) | gnomAD v4 |
12 | g.55954147G>A | CA2575185591 | PMEL | c.*67C>T (n.*67C>T) | gnomAD v4 |
12 | g.55954147G>T | CA2619237721 | PMEL | c.*67C>A (n.*67C>A) | gnomAD v4 |
12 | g.55954148G>T | CA2619237723 | PMEL | c.*66C>A (n.*66C>A) | gnomAD v4 |
12 | g.55954150del | CA2575185592 | PMEL | c.*65del (n.*65del) | |
12 | g.55954150A= | CA2038177368 | PMEL | c.*64T= (n.*64T=) | |
12 | g.55954150A>G | CA2038177367 | PMEL | c.*64T>C (n.*64T>C) | dbSNP |
12 | g.55954151G>A | CA690141493 | PMEL | c.*63C>T (n.*63C>T) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.55954151G= | CA2038177371 | PMEL | c.*63C= (n.*63C=) | |
12 | g.55954151G>T | CA2619237724 | PMEL | c.*63C>A (n.*63C>A) | gnomAD v4 |
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) |