Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.89919740_89919753delinsCGCGGCGAGCCGTT | CA2242009578 | MC1R | c.482_495delinsCGCGGCGAGCCGTT (p.Ala161=) | |
16 | g.89919746_89919758del | CA624455294 | MC1R | c.488_500del (p.Arg163ProfsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919745_89919765del | CA2635066374 | MC1R | c.487_507del (p.Arg163_Trp169del) | gnomAD v4 |
16 | g.89919745_89919756delinsCGAGCCGTTGCG | CA2242009584 | MC1R | c.487_498delinsCGAGCCGTTGCG (p.Arg163=) | |
16 | g.89919747_89919757del | CA2242009585 | MC1R | c.489_499del (p.Ala164HisfsTer?) | dbSNP gnomAD v4 |
16 | g.89919752T>A | CA397461542 | MC1R | c.494T>A (p.Val165Asp) | |
16 | g.89919752T>C | CA8255623 | MC1R | c.494T>C (p.Val165Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.89919752T>G | CA397461547 | MC1R | c.494T>G (p.Val165Gly) | |
16 | g.89919752T= | CA2242009590 | MC1R | c.494T= (p.Val165=) | |
16 | g.89919753T>A | CA497380410 | MC1R | c.495T>A (p.Val165=) | gnomAD v4 |
16 | g.89919753T>C | CA497380412 | MC1R | c.495T>C (p.Val165=) | dbSNP gnomAD v4 COSMIC |
16 | g.89919753T>G | CA497380407 | MC1R | c.495T>G (p.Val165=) | |
16 | g.89919753T= | CA2242009591 | MC1R | c.495T= (p.Val165=) | |
16 | g.89919754G>A | CA8255625 | MC1R | c.496G>A (p.Ala166Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.89919754G>C | CA397461553 | MC1R | c.496G>C (p.Ala166Pro) | |
16 | g.89919754G= | CA2242009592 | MC1R | c.496G= (p.Ala166=) | |
16 | g.89919754G>T | CA286607501 | MC1R | c.496G>T (p.Ala166Ser) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.89919754dup | CA8255624 | MC1R | c.496dup (p.Ala166GlyfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.89919755del | CA2576104016 | MC1R | c.497del (p.Ala166GlyfsTer?) | |
16 | g.89919755C>A | CA397461557 | MC1R | c.497C>A (p.Ala166Glu) | dbSNP gnomAD v4 |
16 | g.89919755C= | CA2242009593 | MC1R | c.497C= (p.Ala166=) | |
16 | g.89919755C>G | CA8255626 | MC1R | c.497C>G (p.Ala166Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919755C>T | CA8255627 | MC1R | c.497C>T (p.Ala166Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919756G>A | CA8255628 | MC1R | c.498G>A (p.Ala166=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919756G>C | CA497380443 | MC1R | c.498G>C (p.Ala166=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.89919756G= | CA2242009594 | MC1R | c.498G= (p.Ala166=) | |
16 | g.89919756G>T | CA497380445 | MC1R | c.498G>T (p.Ala166=) | gnomAD v4 |
16 | g.89919757G>A | CA397461564 | MC1R | c.499G>A (p.Ala167Thr) | gnomAD v4 COSMIC |
16 | g.89919757G>C | CA397461567 | MC1R | c.499G>C (p.Ala167Pro) | |
16 | g.89919757G>T | CA397461569 | MC1R | c.499G>T (p.Ala167Ser) | gnomAD v4 |
16 | g.89919758C>A | CA397461572 | MC1R | c.500C>A (p.Ala167Asp) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.89919758C= | CA2242009595 | MC1R | c.500C= (p.Ala167=) | |
16 | g.89919758C>G | CA397461576 | MC1R | c.500C>G (p.Ala167Gly) | |
16 | g.89919758C>T | CA397461574 | MC1R | c.500C>T (p.Ala167Val) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.89919759C>A | CA8255629 | MC1R | c.501C>A (p.Ala167=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.89919759C= | CA2242009596 | MC1R | c.501C= (p.Ala167=) | |
16 | g.89919759C>G | CA497380465 | MC1R | c.501C>G (p.Ala167=) | |
16 | g.89919759C>T | CA497380466 | MC1R | c.501C>T (p.Ala167=) | |
16 | g.89919760A= | CA2242009597 | MC1R | c.502A= (p.Ile168=) | |
16 | g.89919760A>C | CA397461580 | MC1R | c.502A>C (p.Ile168Leu) | gnomAD v4 |
16 | g.89919760A>G | CA397461586 | MC1R | c.502A>G (p.Ile168Val) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.89919760A>T | CA397461588 | MC1R | c.502A>T (p.Ile168Phe) | |
16 | g.89919761T>A | CA397461591 | MC1R | c.503T>A (p.Ile168Asn) | |
16 | g.89919761T>C | CA397461592 | MC1R | c.503T>C (p.Ile168Thr) | |
16 | g.89919761T>G | CA397461594 | MC1R | c.503T>G (p.Ile168Ser) | |
16 | g.89919762C>A | CA497380472 | MC1R | c.504C>A (p.Ile168=) | |
16 | g.89919762C= | CA2242009598 | MC1R | c.504C= (p.Ile168=) | |
16 | g.89919762C>G | CA8255630 | MC1R | c.504C>G (p.Ile168Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919762C>T | CA8255631 | MC1R | c.504C>T (p.Ile168=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919763T>A | CA397461600 | MC1R | c.505T>A (p.Trp169Arg) | gnomAD v4 |
16 | g.89919763T>C | CA397461601 | MC1R | c.505T>C (p.Trp169Arg) | |
16 | g.89919763T>G | CA397461603 | MC1R | c.505T>G (p.Trp169Gly) | |
16 | g.89919764G>A | CA397461607 | MC1R | c.506G>A (p.Trp169Ter) | ClinVar gnomAD v4 |
16 | g.89919764G>C | CA397461609 | MC1R | c.506G>C (p.Trp169Ser) | |
16 | g.89919764G>T | CA397461605 | MC1R | c.506G>T (p.Trp169Leu) | gnomAD v4 |
16 | g.89919765G>A | CA397461611 | MC1R | c.507G>A (p.Trp169Ter) | |
16 | g.89919765G>C | CA397461614 | MC1R | c.507G>C (p.Trp169Cys) | dbSNP |
16 | g.89919765G= | CA2242009599 | MC1R | c.507G= (p.Trp169=) | |
16 | g.89919765G>T | CA397461616 | MC1R | c.507G>T (p.Trp169Cys) | gnomAD v4 |
16 | g.89919766G>A | CA8255632 | MC1R | c.508G>A (p.Val170Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.89919766G>C | CA397461620 | MC1R | c.508G>C (p.Val170Leu) | |
16 | g.89919766G= | CA2242009600 | MC1R | c.508G= (p.Val170=) | |
16 | g.89919766G>T | CA397461621 | MC1R | c.508G>T (p.Val170Leu) | gnomAD v4 |
16 | g.89919767T>A | CA397461625 | MC1R | c.509T>A (p.Val170Glu) | |
16 | g.89919767T>C | CA397461629 | MC1R | c.509T>C (p.Val170Ala) | gnomAD v4 |
16 | g.89919767T>G | CA397461627 | MC1R | c.509T>G (p.Val170Gly) | dbSNP |
16 | g.89919767T= | CA2242009601 | MC1R | c.509T= (p.Val170=) | |
16 | g.89919768G>A | CA8255633 | MC1R | c.510G>A (p.Val170=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.89919768G>C | CA497380489 | MC1R | c.510G>C (p.Val170=) | |
16 | g.89919768G= | CA2242009602 | MC1R | c.510G= (p.Val170=) | |
16 | g.89919768G>T | CA497380490 | MC1R | c.510G>T (p.Val170=) | gnomAD v4 |
16 | g.89919769G>A | CA397461634 | MC1R | c.511G>A (p.Ala171Thr) | gnomAD v4 |
16 | g.89919769G>C | CA397461637 | MC1R | c.511G>C (p.Ala171Pro) | |
16 | g.89919769G= | CA2242009603 | MC1R | c.511G= (p.Ala171=) | |
16 | g.89919769G>T | CA286607507 | MC1R | c.511G>T (p.Ala171Ser) | ClinVar dbSNP gnomAD v4 |
16 | g.89919770C>A | CA8255635 | MC1R | c.512C>A (p.Ala171Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919770C= | CA2242009604 | MC1R | c.512C= (p.Ala171=) | |
16 | g.89919770C>G | CA8255634 | MC1R | c.512C>G (p.Ala171Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919770C>T | CA397461643 | MC1R | c.512C>T (p.Ala171Val) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.89919771C>A | CA497380498 | MC1R | c.513C>A (p.Ala171=) | gnomAD v4 |
16 | g.89919771C= | CA2242009605 | MC1R | c.513C= (p.Ala171=) | |
16 | g.89919771C>G | CA497380499 | MC1R | c.513C>G (p.Ala171=) | |
16 | g.89919771C>T | CA8255636 | MC1R | c.513C>T (p.Ala171=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919772A>C | CA397461652 | MC1R | c.514A>C (p.Ser172Arg) | gnomAD v4 |
16 | g.89919772A>G | CA397461648 | MC1R | c.514A>G (p.Ser172Gly) | gnomAD v4 |
16 | g.89919772A>T | CA397461650 | MC1R | c.514A>T (p.Ser172Cys) | |
16 | g.89919773G>A | CA397461654 | MC1R | c.515G>A (p.Ser172Asn) | dbSNP gnomAD v2 |
16 | g.89919773G>C | CA397461655 | MC1R | c.515G>C (p.Ser172Thr) | gnomAD v4 |
16 | g.89919773G= | CA2242009606 | MC1R | c.515G= (p.Ser172=) | |
16 | g.89919773G>T | CA8255637 | MC1R | c.515G>T (p.Ser172Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919774T>A | CA397461659 | MC1R | c.516T>A (p.Ser172Arg) | gnomAD v4 |
16 | g.89919774T>C | CA8255639 | MC1R | c.516T>C (p.Ser172=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.89919774T>G | CA397461662 | MC1R | c.516T>G (p.Ser172Arg) | |
16 | g.89919774T= | CA2242009608 | MC1R | c.516T= (p.Ser172=) | |
16 | g.89919774_89919777delinsTGTC | CA2242009607 | MC1R | c.516_519delinsTGTC (p.Ser172=) | |
16 | g.89919775G>A | CA397461665 | MC1R | c.517G>A (p.Val173Ile) | |
16 | g.89919775G>C | CA397461668 | MC1R | c.517G>C (p.Val173Leu) | |
16 | g.89919775G>T | CA397461671 | MC1R | c.517G>T (p.Val173Phe) | gnomAD v4 |
16 | g.89919778_89919780del | CA8255638 | MC1R | c.520_522del (p.Val174del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919776del | CA2635066520 | MC1R | c.518del (p.Val173AlafsTer?) | gnomAD v4 |
16 | g.89919776T>A | CA397461680 | MC1R | c.518T>A (p.Val173Asp) | |
16 | g.89919776T>C | CA397461677 | MC1R | c.518T>C (p.Val173Ala) | |
16 | g.89919776T>G | CA397461676 | MC1R | c.518T>G (p.Val173Gly) | |
16 | g.89919777C>A | CA497380521 | MC1R | c.519C>A (p.Val173=) | gnomAD v4 |
16 | g.89919777C= | CA2242009609 | MC1R | c.519C= (p.Val173=) | |
16 | g.89919777C>G | CA497380522 | MC1R | c.519C>G (p.Val173=) | |
16 | g.89919777C>T | CA8255640 | MC1R | c.519C>T (p.Val173=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919778G>A | CA8255641 | MC1R | c.520G>A (p.Val174Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919778G>C | CA397461683 | MC1R | c.520G>C (p.Val174Leu) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.89919778G= | CA2242009610 | MC1R | c.520G= (p.Val174=) | |
16 | g.89919778G>T | CA397461685 | MC1R | c.520G>T (p.Val174Phe) | gnomAD v4 |
16 | g.89919779T>A | CA397461687 | MC1R | c.521T>A (p.Val174Asp) | |
16 | g.89919779T>C | CA397461689 | MC1R | c.521T>C (p.Val174Ala) | |
16 | g.89919779T>G | CA397461691 | MC1R | c.521T>G (p.Val174Gly) | |
16 | g.89919780C>A | CA497380534 | MC1R | c.522C>A (p.Val174=) | gnomAD v4 |
16 | g.89919780C>G | CA497380535 | MC1R | c.522C>G (p.Val174=) | |
16 | g.89919780C>T | CA497380536 | MC1R | c.522C>T (p.Val174=) | gnomAD v4 |
16 | g.89919781T>A | CA397461693 | MC1R | c.523T>A (p.Phe175Ile) | |
16 | g.89919781T>C | CA397461695 | MC1R | c.523T>C (p.Phe175Leu) | gnomAD v4 |
16 | g.89919781T>G | CA397461696 | MC1R | c.523T>G (p.Phe175Val) | |
16 | g.89919782dup | CA2695224048 | MC1R | c.524dup (p.Ser176GlnfsTer?) | |
16 | g.89919782T>A | CA397461700 | MC1R | c.524T>A (p.Phe175Tyr) | |
16 | g.89919782T>C | CA397461703 | MC1R | c.524T>C (p.Phe175Ser) | |
16 | g.89919782T>G | CA397461704 | MC1R | c.524T>G (p.Phe175Cys) | |
16 | g.89919782_89919785delinsTCAG | CA2242009611 | MC1R | c.524_527delinsTCAG (p.Phe175=) | |
16 | g.89919783C>A | CA397461708 | MC1R | c.525C>A (p.Phe175Leu) | |
16 | g.89919783C>G | CA397461707 | MC1R | c.525C>G (p.Phe175Leu) | |
16 | g.89919783C>T | CA497380558 | MC1R | c.525C>T (p.Phe175=) | gnomAD v4 |
16 | g.89919785_89919787del | CA919769660 | MC1R | c.527_529del (p.Ser176del) | dbSNP |
16 | g.89919784A= | CA2242009612 | MC1R | c.526A= (p.Ser176=) | |
16 | g.89919784A>C | CA397461711 | MC1R | c.526A>C (p.Ser176Arg) | dbSNP |
16 | g.89919784A>G | CA397461713 | MC1R | c.526A>G (p.Ser176Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919784A>T | CA397461714 | MC1R | c.526A>T (p.Ser176Cys) | |
16 | g.89919785G>A | CA397461716 | MC1R | c.527G>A (p.Ser176Asn) | dbSNP gnomAD v4 |
16 | g.89919785G>C | CA397461717 | MC1R | c.527G>C (p.Ser176Thr) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.89919785G= | CA2242009613 | MC1R | c.527G= (p.Ser176=) | |
16 | g.89919785G>T | CA397461718 | MC1R | c.527G>T (p.Ser176Ile) | |
16 | g.89919786C>A | CA397461720 | MC1R | c.528C>A (p.Ser176Arg) | |
16 | g.89919786C>G | CA397461722 | MC1R | c.528C>G (p.Ser176Arg) | |
16 | g.89919786C>T | CA497380562 | MC1R | c.528C>T (p.Ser176=) | gnomAD v4 |
16 | g.89919787A= | CA2242009614 | MC1R | c.529A= (p.Thr177=) | |
16 | g.89919787A>C | CA397461725 | MC1R | c.529A>C (p.Thr177Pro) | |
16 | g.89919787A>G | CA8255642 | MC1R | c.529A>G (p.Thr177Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.89919787A>T | CA397461727 | MC1R | c.529A>T (p.Thr177Ser) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.89919788C>A | CA397461738 | MC1R | c.530C>A (p.Thr177Lys) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.89919788C= | CA2242009615 | MC1R | c.530C= (p.Thr177=) | |
16 | g.89919788C>G | CA397461739 | MC1R | c.530C>G (p.Thr177Arg) | gnomAD v4 |
16 | g.89919788C>T | CA8255643 | MC1R | c.530C>T (p.Thr177Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919789G>A | CA8255644 | MC1R | c.531G>A (p.Thr177=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919789G>C | CA497380571 | MC1R | c.531G>C (p.Thr177=) | |
16 | g.89919789G= | CA2242009616 | MC1R | c.531G= (p.Thr177=) | |
16 | g.89919789G>T | CA497380583 | MC1R | c.531G>T (p.Thr177=) | gnomAD v4 |
16 | g.89919790C>A | CA397461744 | MC1R | c.532C>A (p.Leu178Ile) | |
16 | g.89919790C= | CA2242009618 | MC1R | c.532C= (p.Leu178=) | |
16 | g.89919790C>G | CA397461748 | MC1R | c.532C>G (p.Leu178Val) | dbSNP gnomAD v2 |
16 | g.89919790C>T | CA397461746 | MC1R | c.532C>T (p.Leu178Phe) | |
16 | g.89919790_89919791delinsCT | CA2242009619 | MC1R | c.532_533delinsCT (p.Leu178=) | |
16 | g.89919790_89919793delinsCTCT | CA2242009617 | MC1R | c.532_535delinsCTCT (p.Leu178=) | |
16 | g.89919791del | CA2242009620 | MC1R | c.533del (p.Leu178ProfsTer?) | dbSNP gnomAD v4 |
16 | g.89919791T>A | CA397461751 | MC1R | c.533T>A (p.Leu178His) | |
16 | g.89919791T>C | CA397461753 | MC1R | c.533T>C (p.Leu178Pro) | |
16 | g.89919791T>G | CA397461754 | MC1R | c.533T>G (p.Leu178Arg) | |
16 | g.89919793_89919795del | CA725761868 | MC1R | c.535_537del (p.Phe179del) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.89919792C>A | CA497380588 | MC1R | c.534C>A (p.Leu178=) | |
16 | g.89919792C= | CA2242009621 | MC1R | c.534C= (p.Leu178=) | |
16 | g.89919792C>G | CA497380590 | MC1R | c.534C>G (p.Leu178=) | gnomAD v4 |
16 | g.89919792C>T | CA8255645 | MC1R | c.534C>T (p.Leu178=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
16 | g.89919793T>A | CA397461755 | MC1R | c.535T>A (p.Phe179Ile) | |
16 | g.89919793T>C | CA397461756 | MC1R | c.535T>C (p.Phe179Leu) | |
16 | g.89919793T>G | CA397461757 | MC1R | c.535T>G (p.Phe179Val) | |
16 | g.89919793_89919794insC | CA286607519 | MC1R | c.535_536insC (p.Phe179SerfsTer?) | |
16 | g.89919794T>A | CA397461758 | MC1R | c.536T>A (p.Phe179Tyr) | |
16 | g.89919794T>C | CA397461760 | MC1R | c.536T>C (p.Phe179Ser) | |
16 | g.89919794T>G | CA397461761 | MC1R | c.536T>G (p.Phe179Cys) | |
16 | g.89919794T= | CA2242009622 | MC1R | c.536T= (p.Phe179=) | |
16 | g.89919795C>A | CA397461770 | MC1R | c.537C>A (p.Phe179Leu) | gnomAD v4 |
16 | g.89919795C>G | CA397461764 | MC1R | c.537C>G (p.Phe179Leu) | |
16 | g.89919795C>T | CA497380600 | MC1R | c.537C>T (p.Phe179=) | gnomAD v4 |
16 | g.89919795dup | CA8255646 | MC1R | c.537dup (p.Ile180HisfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919796A= | CA2242009623 | MC1R | c.538A= (p.Ile180=) | |
16 | g.89919796A>C | CA397461772 | MC1R | c.538A>C (p.Ile180Leu) | |
16 | g.89919796A>G | CA8255647 | MC1R | c.538A>G (p.Ile180Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919796A>T | CA397461775 | MC1R | c.538A>T (p.Ile180Phe) | |
16 | g.89919797T>A | CA397461776 | MC1R | c.539T>A (p.Ile180Asn) | dbSNP gnomAD v4 |
16 | g.89919797T>C | CA397461777 | MC1R | c.539T>C (p.Ile180Thr) | |
16 | g.89919797T>G | CA397461779 | MC1R | c.539T>G (p.Ile180Ser) | dbSNP |
16 | g.89919797T= | CA2242009624 | MC1R | c.539T= (p.Ile180=) | |
16 | g.89919798C>A | CA497380613 | MC1R | c.540C>A (p.Ile180=) | |
16 | g.89919798C= | CA2242009625 | MC1R | c.540C= (p.Ile180=) | |
16 | g.89919798C>G | CA397461780 | MC1R | c.540C>G (p.Ile180Met) | |
16 | g.89919798C>T | CA8255648 | MC1R | c.540C>T (p.Ile180=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919799G>A | CA8255649 | MC1R | c.541G>A (p.Ala181Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919799G>C | CA397461785 | MC1R | c.541G>C (p.Ala181Pro) | ClinVar |
16 | g.89919799G= | CA2242009626 | MC1R | c.541G= (p.Ala181=) | |
16 | g.89919799G>T | CA397461784 | MC1R | c.541G>T (p.Ala181Ser) | gnomAD v4 |
16 | g.89919802_89920805del | CA916083514 | MC1R | c.544_*593del (n.[c.544_*593del;Tyr182LeufsTer?]) c.544_*17del c.544_1098+68del | ClinVar |
16 | g.89919800C>A | CA397461788 | MC1R | c.542C>A (p.Ala181Asp) | |
16 | g.89919800C= | CA2242009627 | MC1R | c.542C= (p.Ala181=) | |
16 | g.89919800C>G | CA286607524 | MC1R | c.542C>G (p.Ala181Gly) | ClinVar dbSNP |
16 | g.89919800C>T | CA397461789 | MC1R | c.542C>T (p.Ala181Val) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.89919801dup | CA2635066575 | MC1R | c.543dup (p.Tyr182LeufsTer?) | gnomAD v4 |
16 | g.89919801C>A | CA497380620 | MC1R | c.543C>A (p.Ala181=) | |
16 | g.89919801C= | CA2242009628 | MC1R | c.543C= (p.Ala181=) | |
16 | g.89919801C>G | CA497380622 | MC1R | c.543C>G (p.Ala181=) | gnomAD v4 |
16 | g.89919801C>T | CA497380624 | MC1R | c.543C>T (p.Ala181=) | dbSNP |
16 | g.89919801_89919802insCTCCTGAGGGCCGG | CA2635066583 | MC1R | c.543_544insCTCCTGAGGGCCGG (p.Tyr182LeufsTer?) | gnomAD v4 |
16 | g.89919802T>A | CA397461790 | MC1R | c.544T>A (p.Tyr182Asn) | |
16 | g.89919802T>C | CA397461792 | MC1R | c.544T>C (p.Tyr182His) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.89919802T>G | CA397461794 | MC1R | c.544T>G (p.Tyr182Asp) | |
16 | g.89919802T= | CA2242009629 | MC1R | c.544T= (p.Tyr182=) | |
16 | g.89919802_89920802delinsTACTACGACCACGTGGCCGTCCTGCTGTGCCTCGTGGTCTTCTTCCTGGCTATGCTGGTGCTCATGGCCGTGCTGTACGTCCACATGCTGGCCCGGGCCTGCCAGCACGCCCAGGGCATCGCCCGGCTCCACAAGAGGCAGCGCCCGGTCCACCAGGGCTTTGGCCTTAAAGGCGCTGTCACCCTCACCATCCTGCTGGGCATTTTCTTCCTCTGCTGGGGCCCCTTCTTCCTGCATCTCACACTCATCGTCCTCTGCCCCGAGCACCCCACGTGCGGCTGCATCTTCAAGAACTTCAACCTCTTTCTCGCCCTCATCATCTGCAATGCCATCATCGACCCCCTCATCTACGCCTTCCACAGCCAGGAGCTCCGCAGGACGCTCAAGGAGGTGCTGACATGCTCCTGGTGAGCGCGGTGCACGCGGCTTTAAGTGTGCTGGGCAGAGGGAGGTGGTGATATTGTGTGGTCTGGTTCCTGTGTGACCCTGGGCAGTTCCTTACCTCCCTGGTCCCCGTTTGTCAAAGAGGATGGACTAAATGATCTCTGAAAGTGTTGAAGCGCGGACCCTTCTGGGTCCAGGGAGGGGTCCCTGCAAAACTCCAGGCAGGACTTCTCACCAGCAGTCGTGGGGAACGGAGGAGGACATGGGGAGGTTGTGGGGCCTCAGGCTCCGGGCACCAGGGGCCAACCTCAGGCTCCTAAAGAGACATTTTCCGCCCACTCCTGGGACACTCCGTCTGCTCCAATGACTGAGCAGCATCCACCCCACCCCATCTTTGCTGCCAGCTCTCAGGACCGTGCCCTCGTCAGCTGGGATGTGAAGTCTCTGGGTGGAAGTGTGTGCCAAGAGCTACTCCCACAGCAGCCCCAGGAGAAGGGGCTTTGTGACCAGAAAGCTTCATCCACAGCCTTGCAGCGGCTCCTGCAAAAGGAGGTGAAATCCCTGCCTCAGGCCAAGGGACCAGGTTTGCAGGAGCCCCCCTAGTGGTATGGGGCTGA | CA2242009630 | MC1R | c.544_*590delinsTACTACGACCACGTGGCCGTCCTGCTGTGCCTCGTGGTCTTCTTCCTGGCTATGCTGGTGCTCATGGCCGTGCTGTACGTCCACATGCTGGCCCGGGCCTGCCAGCACGCCCAGGGCATCGCCCGGCTCCACAAGAGGCAGCGCCCGGTCCACCAGGGCTTTGGCCTTAAAGGCGCTGTCACCCTCACCATCCTGCTGGGCATTTTCTTCCTCTGCTGGGGCCCCTTCTTCCTGCATCTCACACTCATCGTCCTCTGCCCCGAGCACCCCACGTGCGGCTGCATCTTCAAGAACTTCAACCTCTTTCTCGCCCTCATCATCTGCAATGCCATCATCGACCCCCTCATCTACGCCTTCCACAGCCAGGAGCTCCGCAGGACGCTCAAGGAGGTGCTGACATGCTCCTGGTGAGCGCGGTGCACGCGGCTTTAAGTGTGCTGGGCAGAGGGAGGTGGTGATATTGTGTGGTCTGGTTCCTGTGTGACCCTGGGCAGTTCCTTACCTCCCTGGTCCCCGTTTGTCAAAGAGGATGGACTAAATGATCTCTGAAAGTGTTGAAGCGCGGACCCTTCTGGGTCCAGGGAGGGGTCCCTGCAAAACTCCAGGCAGGACTTCTCACCAGCAGTCGTGGGGAACGGAGGAGGACATGGGGAGGTTGTGGGGCCTCAGGCTCCGGGCACCAGGGGCCAACCTCAGGCTCCTAAAGAGACATTTTCCGCCCACTCCTGGGACACTCCGTCTGCTCCAATGACTGAGCAGCATCCACCCCACCCCATCTTTGCTGCCAGCTCTCAGGACCGTGCCCTCGTCAGCTGGGATGTGAAGTCTCTGGGTGGAAGTGTGTGCCAAGAGCTACTCCCACAGCAGCCCCAGGAGAAGGGGCTTTGTGACCAGAAAGCTTCATCCACAGCCTTGCAGCGGCTCCTGCAAAAGGAGGTGAAATCCCTGCCTCAGGCCAAGGGACCAGGTTTGCAGGAGCCCCCCTAGTGGTATGGGGCTGA (n.[c.544_*590delinsTACTACGACCACGTGGCCGTCCTGCTGTGCCTCGTGGTCTTCTTCCTGGCTATGCTGGTGCTCATGGCCGTGCTGTACGTCCACATGCTGGCCCGGGCCTGCCAGCACGCCCAGGGCATCGCCCGGCTCCACAAGAGGCAGCGCCCGGTCCACCAGGGCTTTGGCCTTAAAGGCGCTGTCACCCTCACCATCCTGCTGGGCATTTTCTTCCTCTGCTGGGGCCCCTTCTTCCTGCATCTCACACTCATCGTCCTCTGCCCCGAGCACCCCACGTGCGGCTGCATCTTCAAGAACTTCAACCTCTTTCTCGCCCTCATCATCTGCAATGCCATCATCGACCCCCTCATCTACGCCTTCCACAGCCAGGAGCTCCGCAGGACGCTCAAGGAGGTGCTGACATGCTCCTGGTGAGCGCGGTGCACGCGGCTTTAAGTGTGCTGGGCAGAGGGAGGTGGTGATATTGTGTGGTCTGGTTCCTGTGTGACCCTGGGCAGTTCCTTACCTCCCTGGTCCCCGTTTGTCAAAGAGGATGGACTAAATGATCTCTGAAAGTGTTGAAGCGCGGACCCTTCTGGGTCCAGGGAGGGGTCCCTGCAAAACTCCAGGCAGGACTTCTCACCAGCAGTCGTGGGGAACGGAGGAGGACATGGGGAGGTTGTGGGGCCTCAGGCTCCGGGCACCAGGGGCCAACCTCAGGCTCCTAAAGAGACATTTTCCGCCCACTCCTGGGACACTCCGTCTGCTCCAATGACTGAGCAGCATCCACCCCACCCCATCTTTGCTGCCAGCTCTCAGGACCGTGCCCTCGTCAGCTGGGATGTGAAGTCTCTGGGTGGAAGTGTGTGCCAAGAGCTACTCCCACAGCAGCCCCAGGAGAAGGGGCTTTGTGACCAGAAAGCTTCATCCACAGCCTTGCAGCGGCTCCTGCAAAAGGAGGTGAAATCCCTGCCTCAGGCCAAGGGACCAGGTTTGCAGGAGCCCCCCTAGTGGTATGGGGCTGA;Tyr182=]) c.544_*14delinsTACTACGACCACGTGGCCGTCCTGCTGTGCCTCGTGGTCTTCTTCCTGGCTATGCTGGTGCTCATGGCCGTGCTGTACGTCCACATGCTGGCCCGGGCCTGCCAGCACGCCCAGGGCATCGCCCGGCTCCACAAGAGGCAGCGCCCGGTCCACCAGGGCTTTGGCCTTAAAGGCGCTGTCACCCTCACCATCCTGCTGGGCATTTTCTTCCTCTGCTGGGGCCCCTTCTTCCTGCATCTCACACTCATCGTCCTCTGCCCCGAGCACCCCACGTGCGGCTGCATCTTCAAGAACTTCAACCTCTTTCTCGCCCTCATCATCTGCAATGCCATCATCGACCCCCTCATCTACGCCTTCCACAGCCAGGAGCTCCGCAGGACGCTCAAGGAGGTGCTGACATGCTCCTGGTGAGCGCGGTGCACGCGGCTTTAAGTGTGCTGGGCAGAGGGAGGTGGTGATATTGTGTGGTCTGGTTCCTGTGTGACCCTGGGCAGTTCCTTACCTCCCTGGTCCCCGTTTGTCAAAGAGGATGGACTAAATGATCTCTGAAAGTGTTGAAGCGCGGACCCTTCTGGGTCCAGGGAGGGGTCCCTGCAAAACTCCAGGCAGGACTTCTCACCAGCAGTCGTGGGGAACGGAGGAGGACATGGGGAGGTTGTGGGGCCTCAGGCTCCGGGCACCAGGGGCCAACCTCAGGCTCCTAAAGAGACATTTTCCGCCCACTCCTGGGACACTCCGTCTGCTCCAATGACTGAGCAGCATCCACCCCACCCCATCTTTGCTGCCAGCTCTCAGGACCGTGCCCTCGTCAGCTGGGATGTGAAGTCTCTGGGTGGAAGTGTGTGCCAAGAGCTACTCCCACAGCAGCCCCAGGAGAAGGGGCTTTGTGACCAGAAAGCTTCATCCACAGCCTTGCAGCGGCTCCTGCAAAAGGAGGTGAAATCCCTGCCTCAGGCCAAGGGACCAGGTTTGCAGGAGCCCCCCTAGTGGTATGGGGCTGA c.544_1098+65delinsTACTACGACCACGTGGCCGTCCTGCTGTGCCTCGTGGTCTTCTTCCTGGCTATGCTGGTGCTCATGGCCGTGCTGTACGTCCACATGCTGGCCCGGGCCTGCCAGCACGCCCAGGGCATCGCCCGGCTCCACAAGAGGCAGCGCCCGGTCCACCAGGGCTTTGGCCTTAAAGGCGCTGTCACCCTCACCATCCTGCTGGGCATTTTCTTCCTCTGCTGGGGCCCCTTCTTCCTGCATCTCACACTCATCGTCCTCTGCCCCGAGCACCCCACGTGCGGCTGCATCTTCAAGAACTTCAACCTCTTTCTCGCCCTCATCATCTGCAATGCCATCATCGACCCCCTCATCTACGCCTTCCACAGCCAGGAGCTCCGCAGGACGCTCAAGGAGGTGCTGACATGCTCCTGGTGAGCGCGGTGCACGCGGCTTTAAGTGTGCTGGGCAGAGGGAGGTGGTGATATTGTGTGGTCTGGTTCCTGTGTGACCCTGGGCAGTTCCTTACCTCCCTGGTCCCCGTTTGTCAAAGAGGATGGACTAAATGATCTCTGAAAGTGTTGAAGCGCGGACCCTTCTGGGTCCAGGGAGGGGTCCCTGCAAAACTCCAGGCAGGACTTCTCACCAGCAGTCGTGGGGAACGGAGGAGGACATGGGGAGGTTGTGGGGCCTCAGGCTCCGGGCACCAGGGGCCAACCTCAGGCTCCTAAAGAGACATTTTCCGCCCACTCCTGGGACACTCCGTCTGCTCCAATGACTGAGCAGCATCCACCCCACCCCATCTTTGCTGCCAGCTCTCAGGACCGTGCCCTCGTCAGCTGGGATGTGAAGTCTCTGGGTGGAAGTGTGTGCCAAGAGCTACTCCCACAGCAGCCCCAGGAGAAGGGGCTTTGTGACCAGAAAGCTTCATCCACAGCCTTGCAGCGGCTCCTGCAAAAGGAGGTGAAATCCCTGCCTCAGGCCAAGGGACCAGGTTTGCAGGAGCCCCCCTAGTGGTATGGGGCTGA | |
16 | g.89919802_89919803insCCTGAGGGCCGGTTCTAAGGCTCAG | CA2635066586 | MC1R | c.544_545insCCTGAGGGCCGGTTCTAAGGCTCAG (p.Tyr182SerfsTer2) | gnomAD v4 |
16 | g.89919802_89919803insCCTGAGGGCCGGTTCTAAGGCTCAGACTGGGC | CA2635066587 | MC1R | c.544_545insCCTGAGGGCCGGTTCTAAGGCTCAGACTGGGC (p.Tyr182SerfsTer2) | gnomAD v4 |
16 | g.89919803A= | CA2242009631 | MC1R | c.545A= (p.Tyr182=) | |
16 | g.89919803A>C | CA8255650 | MC1R | c.545A>C (p.Tyr182Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.89919803A>G | CA286607527 | MC1R | c.545A>G (p.Tyr182Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919803A>T | CA397461795 | MC1R | c.545A>T (p.Tyr182Phe) | gnomAD v4 |
16 | g.89919803_89920802del | CA658798660 | MC1R | c.545_*590del (n.[c.545_*590del;Tyr182CysfsTer8]) c.545_*14del c.545_1098+65del | ClinVar dbSNP |
16 | g.89919804C>A | CA397461796 | MC1R | c.546C>A (p.Tyr182Ter) | |
16 | g.89919804C= | CA2242009632 | MC1R | c.546C= (p.Tyr182=) | |
16 | g.89919804C>G | CA8255652 | MC1R | c.546C>G (p.Tyr182Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.89919804C>T | CA8255651 | MC1R | c.546C>T (p.Tyr182=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919805T>A | CA397461804 | MC1R | c.547T>A (p.Tyr183Asn) | |
16 | g.89919805T>C | CA8255654 | MC1R | c.547T>C (p.Tyr183His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.89919805T>G | CA8255653 | MC1R | c.547T>G (p.Tyr183Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.89919805T= | CA2242009633 | MC1R | c.547T= (p.Tyr183=) | |
16 | g.89919806A= | CA2242009634 | MC1R | c.548A= (p.Tyr183=) | |
16 | g.89919806A>C | CA397461811 | MC1R | c.548A>C (p.Tyr183Ser) | |
16 | g.89919806A>G | CA8255655 | MC1R | c.548A>G (p.Tyr183Cys) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
16 | g.89919806A>T | CA397461823 | MC1R | c.548A>T (p.Tyr183Phe) | |
16 | g.89919807C>A | CA397461825 | MC1R | c.549C>A (p.Tyr183Ter) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.89919807C= | CA2242009635 | MC1R | c.549C= (p.Tyr183=) | |
16 | g.89919807C>G | CA397461830 | MC1R | c.549C>G (p.Tyr183Ter) | gnomAD v4 |
16 | g.89919807C>T | CA8255656 | MC1R | c.549C>T (p.Tyr183=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.89919808G>A | CA8255658 | MC1R | c.550G>A (p.Asp184Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919808G>C | CA8255657 | MC1R | c.550G>C (p.Asp184His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919808G= | CA2242009636 | MC1R | c.550G= (p.Asp184=) | |
16 | g.89919808G>T | CA397461837 | MC1R | c.550G>T (p.Asp184Tyr) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.89919809A= | CA2242009637 | MC1R | c.551A= (p.Asp184=) | |
16 | g.89919809A>C | CA397461840 | MC1R | c.551A>C (p.Asp184Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.89919809A>G | CA8255659 | MC1R | c.551A>G (p.Asp184Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.89919809A>T | CA397461856 | MC1R | c.551A>T (p.Asp184Val) | |
16 | g.89919810C>A | CA397461859 | MC1R | c.552C>A (p.Asp184Glu) | |
16 | g.89919810C= | CA2242009638 | MC1R | c.552C= (p.Asp184=) | |
16 | g.89919810C>G | CA397461862 | MC1R | c.552C>G (p.Asp184Glu) | |
16 | g.89919810C>T | CA497380652 | MC1R | c.552C>T (p.Asp184=) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.89919811C>A | CA397461867 | MC1R | c.553C>A (p.His185Asn) | |
16 | g.89919811C= | CA2242009639 | MC1R | c.553C= (p.His185=) | |
16 | g.89919811C>G | CA397461870 | MC1R | c.553C>G (p.His185Asp) | |
16 | g.89919811C>T | CA397461872 | MC1R | c.553C>T (p.His185Tyr) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.89919812A>C | CA397461873 | MC1R | c.554A>C (p.His185Pro) | |
16 | g.89919812A>G | CA397461874 | MC1R | c.554A>G (p.His185Arg) | |
16 | g.89919812A>T | CA397461875 | MC1R | c.554A>T (p.His185Leu) | |
16 | g.89919813C>A | CA397461879 | MC1R | c.555C>A (p.His185Gln) | COSMIC |
16 | g.89919813C= | CA2242009640 | MC1R | c.555C= (p.His185=) | |
16 | g.89919813C>G | CA397461876 | MC1R | c.555C>G (p.His185Gln) | |
16 | g.89919813C>T | CA8255660 | MC1R | c.555C>T (p.His185=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919814G>A | CA8255661 | MC1R | c.556G>A (p.Val186Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.89919814G>C | CA397461891 | MC1R | c.556G>C (p.Val186Leu) | |
16 | g.89919814G= | CA2242009641 | MC1R | c.556G= (p.Val186=) | |
16 | g.89919814G>T | CA397461894 | MC1R | c.556G>T (p.Val186Leu) | gnomAD v4 |
16 | g.89919815T>A | CA397461896 | MC1R | c.557T>A (p.Val186Glu) | |
16 | g.89919815T>C | CA397461900 | MC1R | c.557T>C (p.Val186Ala) | dbSNP |
16 | g.89919815T>G | CA397461902 | MC1R | c.557T>G (p.Val186Gly) | |
16 | g.89919816G>A | CA8255662 | MC1R | c.558G>A (p.Val186=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919816G>C | CA497380667 | MC1R | c.558G>C (p.Val186=) | |
16 | g.89919816G= | CA2242009642 | MC1R | c.558G= (p.Val186=) | |
16 | g.89919816G>T | CA497380668 | MC1R | c.558G>T (p.Val186=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.89919817G>A | CA397461912 | MC1R | c.559G>A (p.Ala187Thr) | gnomAD v4 |
16 | g.89919817G>C | CA397461914 | MC1R | c.559G>C (p.Ala187Pro) | |
16 | g.89919817G>T | CA397461916 | MC1R | c.559G>T (p.Ala187Ser) | gnomAD v4 |
16 | g.89919818C>A | CA397461919 | MC1R | c.560C>A (p.Ala187Asp) | COSMIC |
16 | g.89919818C>G | CA397461922 | MC1R | c.560C>G (p.Ala187Gly) | |
16 | g.89919818C>T | CA397461930 | MC1R | c.560C>T (p.Ala187Val) | gnomAD v4 |
16 | g.89919819C>A | CA497380679 | MC1R | c.561C>A (p.Ala187=) | dbSNP |
16 | g.89919819C= | CA2242009643 | MC1R | c.561C= (p.Ala187=) | |
16 | g.89919819C>G | CA497380685 | MC1R | c.561C>G (p.Ala187=) | |
16 | g.89919819C>T | CA8255663 | MC1R | c.561C>T (p.Ala187=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.89919820G>A | CA8255664 | MC1R | c.562G>A (p.Val188Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919820G>C | CA397461933 | MC1R | c.562G>C (p.Val188Leu) | |
16 | g.89919820G= | CA2242009644 | MC1R | c.562G= (p.Val188=) | |
16 | g.89919820G>T | CA397461950 | MC1R | c.562G>T (p.Val188Phe) | gnomAD v4 |
16 | g.89919821T>A | CA397461953 | MC1R | c.563T>A (p.Val188Asp) | |
16 | g.89919821T>C | CA397461954 | MC1R | c.563T>C (p.Val188Ala) | |
16 | g.89919821T>G | CA397461956 | MC1R | c.563T>G (p.Val188Gly) | |
16 | g.89919822C>A | CA497380692 | MC1R | c.564C>A (p.Val188=) | ClinVar gnomAD v4 |
16 | g.89919822C= | CA2242009645 | MC1R | c.564C= (p.Val188=) | |
16 | g.89919822C>G | CA497380694 | MC1R | c.564C>G (p.Val188=) | gnomAD v4 |
16 | g.89919822C>T | CA497380695 | MC1R | c.564C>T (p.Val188=) | dbSNP gnomAD v4 COSMIC |
16 | g.89919823C>A | CA397461960 | MC1R | c.565C>A (p.Leu189Met) | |
16 | g.89919823C= | CA2242009646 | MC1R | c.565C= (p.Leu189=) | |
16 | g.89919823C>G | CA397461964 | MC1R | c.565C>G (p.Leu189Val) | |
16 | g.89919823C>T | CA497380698 | MC1R | c.565C>T (p.Leu189=) | ClinVar dbSNP gnomAD v4 |
16 | g.89919824T>A | CA397461982 | MC1R | c.566T>A (p.Leu189Gln) | |
16 | g.89919824T>C | CA397461977 | MC1R | c.566T>C (p.Leu189Pro) | gnomAD v4 |
16 | g.89919824T>G | CA397461973 | MC1R | c.566T>G (p.Leu189Arg) | |
16 | g.89919825G>A | CA497380702 | MC1R | c.567G>A (p.Leu189=) | gnomAD v4 |
16 | g.89919825G>C | CA497380705 | MC1R | c.567G>C (p.Leu189=) | |
16 | g.89919825G= | CA2242009647 | MC1R | c.567G= (p.Leu189=) | |
16 | g.89919825G>T | CA497380704 | MC1R | c.567G>T (p.Leu189=) | ClinVar dbSNP gnomAD v4 |
16 | g.89919826C>A | CA397461985 | MC1R | c.568C>A (p.Leu190Met) | gnomAD v4 |
16 | g.89919826C= | CA2242009648 | MC1R | c.568C= (p.Leu190=) | |
16 | g.89919826C>G | CA397461991 | MC1R | c.568C>G (p.Leu190Val) | gnomAD v4 |
16 | g.89919826C>T | CA8255665 | MC1R | c.568C>T (p.Leu190=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.89919827T>A | CA397461995 | MC1R | c.569T>A (p.Leu190Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919827T>C | CA286607544 | MC1R | c.569T>C (p.Leu190Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919827T>G | CA397462007 | MC1R | c.569T>G (p.Leu190Arg) | |
16 | g.89919827T= | CA2242009649 | MC1R | c.569T= (p.Leu190=) | |
16 | g.89919828G>A | CA497380714 | MC1R | c.570G>A (p.Leu190=) | dbSNP gnomAD v4 |
16 | g.89919828G>C | CA497380718 | MC1R | c.570G>C (p.Leu190=) | |
16 | g.89919828G>T | CA497380720 | MC1R | c.570G>T (p.Leu190=) | gnomAD v4 |
16 | g.89919828_89919840delinsGTGCCTCGTGGTC | CA2242009650 | MC1R | c.570_582delinsGTGCCTCGTGGTC (p.Leu190=) | |
16 | g.89919829T>A | CA397462010 | MC1R | c.571T>A (p.Cys191Ser) | |
16 | g.89919829T>C | CA8255666 | MC1R | c.571T>C (p.Cys191Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.89919829T>G | CA397462013 | MC1R | c.571T>G (p.Cys191Gly) | |
16 | g.89919829T= | CA2242009651 | MC1R | c.571T= (p.Cys191=) | |
16 | g.89919830_89919841del | CA624455299 | MC1R | c.572_583del (p.Cys191_Val194del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919830G>A | CA397462014 | MC1R | c.572G>A (p.Cys191Tyr) | gnomAD v4 |
16 | g.89919830G>C | CA397462017 | MC1R | c.572G>C (p.Cys191Ser) | |
16 | g.89919830G= | CA2242009652 | MC1R | c.572G= (p.Cys191=) | |
16 | g.89919830G>T | CA397462022 | MC1R | c.572G>T (p.Cys191Phe) | dbSNP gnomAD v4 |
16 | g.89919831C>A | CA397462025 | MC1R | c.573C>A (p.Cys191Ter) | |
16 | g.89919831C>G | CA397462031 | MC1R | c.573C>G (p.Cys191Trp) | |
16 | g.89919831C>T | CA497380731 | MC1R | c.573C>T (p.Cys191=) | gnomAD v4 |
16 | g.89919832C>A | CA397462033 | MC1R | c.574C>A (p.Leu192Ile) | |
16 | g.89919832C>G | CA397462035 | MC1R | c.574C>G (p.Leu192Val) | gnomAD v4 |
16 | g.89919832C>T | CA397462037 | MC1R | c.574C>T (p.Leu192Phe) | gnomAD v4 |
16 | g.89919833T>A | CA397462040 | MC1R | c.575T>A (p.Leu192His) | |
16 | g.89919833T>C | CA233346 | MC1R | c.575T>C (p.Leu192Pro) | ClinVar dbSNP |
16 | g.89919833T>G | CA397462048 | MC1R | c.575T>G (p.Leu192Arg) | |
16 | g.89919833T= | CA2242009653 | MC1R | c.575T= (p.Leu192=) | |
16 | g.89919834C>A | CA497380738 | MC1R | c.576C>A (p.Leu192=) | gnomAD v4 |
16 | g.89919834C= | CA2242009654 | MC1R | c.576C= (p.Leu192=) | |
16 | g.89919834C>G | CA286607547 | MC1R | c.576C>G (p.Leu192=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919834C>T | CA8255667 | MC1R | c.576C>T (p.Leu192=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.89919835G>A | CA8255668 | MC1R | c.577G>A (p.Val193Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.89919835G>C | CA397462057 | MC1R | c.577G>C (p.Val193Leu) | gnomAD v4 |
16 | g.89919835G= | CA2242009655 | MC1R | c.577G= (p.Val193=) | |
16 | g.89919835G>T | CA397462059 | MC1R | c.577G>T (p.Val193Leu) | dbSNP COSMIC |
16 | g.89919836T>A | CA397462062 | MC1R | c.578T>A (p.Val193Glu) | |
16 | g.89919836T>C | CA397462064 | MC1R | c.578T>C (p.Val193Ala) | |
16 | g.89919836T>G | CA397462065 | MC1R | c.578T>G (p.Val193Gly) | |
16 | g.89919837G>A | CA497380749 | MC1R | c.579G>A (p.Val193=) | gnomAD v4 |
16 | g.89919837G>C | CA497380747 | MC1R | c.579G>C (p.Val193=) | |
16 | g.89919837G>T | CA497380748 | MC1R | c.579G>T (p.Val193=) | |
16 | g.89919838G>A | CA397462068 | MC1R | c.580G>A (p.Val194Ile) | |
16 | g.89919838G>C | CA397462066 | MC1R | c.580G>C (p.Val194Leu) | |
16 | g.89919838G>T | CA397462067 | MC1R | c.580G>T (p.Val194Phe) | gnomAD v4 |
16 | g.89919838_89919841delinsGTCT | CA2242009656 | MC1R | c.580_583delinsGTCT (p.Val194=) | |
16 | g.89919839T>A | CA397462072 | MC1R | c.581T>A (p.Val194Asp) | gnomAD v4 |
16 | g.89919839T>C | CA397462082 | MC1R | c.581T>C (p.Val194Ala) | |
16 | g.89919839T>G | CA397462086 | MC1R | c.581T>G (p.Val194Gly) | |
16 | g.89919844_89919846del | CA286607550 | MC1R | c.586_588del (p.Phe196del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919840C>A | CA497380755 | MC1R | c.582C>A (p.Val194=) | |
16 | g.89919840C= | CA2242009657 | MC1R | c.582C= (p.Val194=) | |
16 | g.89919840C>G | CA8255670 | MC1R | c.582C>G (p.Val194=) | dbSNP ExAC gnomAD v2 |
16 | g.89919840C>T | CA8255669 | MC1R | c.582C>T (p.Val194=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919841T>A | CA397462094 | MC1R | c.583T>A (p.Phe195Ile) | |
16 | g.89919841T>C | CA397462109 | MC1R | c.583T>C (p.Phe195Leu) | |
16 | g.89919841T>G | CA8255671 | MC1R | c.583T>G (p.Phe195Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919841T= | CA2242009658 | MC1R | c.583T= (p.Phe195=) | |
16 | g.89919842T>A | CA397462113 | MC1R | c.584T>A (p.Phe195Tyr) | |
16 | g.89919842T>C | CA397462115 | MC1R | c.584T>C (p.Phe195Ser) | |
16 | g.89919842T>G | CA397462117 | MC1R | c.584T>G (p.Phe195Cys) | |
16 | g.89919842_89919843delinsAG | CA2580092414 | MC1R | c.584_585delinsAG (p.Phe195Ter) | ClinVar |
16 | g.89919843C>A | CA397462118 | MC1R | c.585C>A (p.Phe195Leu) | gnomAD v4 |
16 | g.89919843C>G | CA397462122 | MC1R | c.585C>G (p.Phe195Leu) | gnomAD v4 |
16 | g.89919843C>T | CA497380790 | MC1R | c.585C>T (p.Phe195=) | ClinVar gnomAD v4 |
16 | g.89919844T>A | CA397462128 | MC1R | c.586T>A (p.Phe196Ile) | gnomAD v4 |
16 | g.89919844T>C | CA8255672 | MC1R | c.586T>C (p.Phe196Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919844T>G | CA286607556 | MC1R | c.586T>G (p.Phe196Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919844T= | CA2242009659 | MC1R | c.586T= (p.Phe196=) | |
16 | g.89919845T>A | CA397462137 | MC1R | c.587T>A (p.Phe196Tyr) | |
16 | g.89919845T>C | CA397462138 | MC1R | c.587T>C (p.Phe196Ser) | |
16 | g.89919845T>G | CA397462139 | MC1R | c.587T>G (p.Phe196Cys) | |
16 | g.89919845_89919846delinsTC | CA2242009660 | MC1R | c.587_588delinsTC (p.Phe196=) | |
16 | g.89919846C>A | CA397462141 | MC1R | c.588C>A (p.Phe196Leu) | |
16 | g.89919846C>G | CA397462140 | MC1R | c.588C>G (p.Phe196Leu) | |
16 | g.89919846C>T | CA497380806 | MC1R | c.588C>T (p.Phe196=) | |
16 | g.89919847del | CA725762004 | MC1R | c.589del (p.Leu197TrpfsTer?) | dbSNP gnomAD v4 |
16 | g.89919847C>A | CA397462144 | MC1R | c.589C>A (p.Leu197Met) | |
16 | g.89919847C= | CA2242009661 | MC1R | c.589C= (p.Leu197=) | |
16 | g.89919847C>G | CA397462151 | MC1R | c.589C>G (p.Leu197Val) | gnomAD v4 |
16 | g.89919847C>T | CA497380809 | MC1R | c.589C>T (p.Leu197=) | dbSNP gnomAD v4 |
16 | g.89919848T>A | CA397462158 | MC1R | c.590T>A (p.Leu197Gln) | |
16 | g.89919848T>C | CA397462164 | MC1R | c.590T>C (p.Leu197Pro) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.89919848T>G | CA397462162 | MC1R | c.590T>G (p.Leu197Arg) | |
16 | g.89919848T= | CA2242009662 | MC1R | c.590T= (p.Leu197=) | |
16 | g.89919849G>A | CA497380818 | MC1R | c.591G>A (p.Leu197=) | |
16 | g.89919849G>C | CA497380820 | MC1R | c.591G>C (p.Leu197=) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.89919849G= | CA2242009663 | MC1R | c.591G= (p.Leu197=) | |
16 | g.89919849G>T | CA497380821 | MC1R | c.591G>T (p.Leu197=) | gnomAD v4 |
16 | g.89919850G>A | CA397462171 | MC1R | c.592G>A (p.Ala198Thr) | |
16 | g.89919850G>C | CA8255673 | MC1R | c.592G>C (p.Ala198Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.89919850G= | CA2242009664 | MC1R | c.592G= (p.Ala198=) | |
16 | g.89919850G>T | CA397462175 | MC1R | c.592G>T (p.Ala198Ser) | gnomAD v4 |
16 | g.89919851C>A | CA397462182 | MC1R | c.593C>A (p.Ala198Asp) | |
16 | g.89919851C= | CA2242009665 | MC1R | c.593C= (p.Ala198=) | |
16 | g.89919851C>G | CA397462187 | MC1R | c.593C>G (p.Ala198Gly) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.89919851C>T | CA397462185 | MC1R | c.593C>T (p.Ala198Val) | ClinVar dbSNP gnomAD v4 COSMIC |
16 | g.89919852T>A | CA497380836 | MC1R | c.594T>A (p.Ala198=) | |
16 | g.89919852T>C | CA497380838 | MC1R | c.594T>C (p.Ala198=) | gnomAD v4 |
16 | g.89919852T>G | CA497380840 | MC1R | c.594T>G (p.Ala198=) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.89919852T= | CA2242009666 | MC1R | c.594T= (p.Ala198=) |