Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.89919782_89919785delinsTCAG | CA2242009611 | MC1R | c.524_527delinsTCAG (p.Phe175=) | |
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=) | |
16 | g.89919853A= | CA2242009667 | MC1R | c.595A= (p.Met199=) | |
16 | g.89919853A>C | CA397462189 | MC1R | c.595A>C (p.Met199Leu) | dbSNP |
16 | g.89919853A>G | CA397462191 | MC1R | c.595A>G (p.Met199Val) | dbSNP gnomAD v4 |
16 | g.89919853A>T | CA397462194 | MC1R | c.595A>T (p.Met199Leu) | |
16 | g.89919854T>A | CA397462201 | MC1R | c.596T>A (p.Met199Lys) | |
16 | g.89919854T>C | CA397462214 | MC1R | c.596T>C (p.Met199Thr) | dbSNP |
16 | g.89919854T>G | CA397462216 | MC1R | c.596T>G (p.Met199Arg) | |
16 | g.89919854T= | CA2242009668 | MC1R | c.596T= (p.Met199=) | |
16 | g.89919855G>A | CA397462219 | MC1R | c.597G>A (p.Met199Ile) | dbSNP gnomAD v4 |
16 | g.89919855G>C | CA397462222 | MC1R | c.597G>C (p.Met199Ile) | |
16 | g.89919855G= | CA2242009669 | MC1R | c.597G= (p.Met199=) | |
16 | g.89919855G>T | CA397462225 | MC1R | c.597G>T (p.Met199Ile) | gnomAD v4 |
16 | g.89919856C>A | CA397462229 | MC1R | c.598C>A (p.Leu200Met) | |
16 | g.89919856C= | CA2242009670 | MC1R | c.598C= (p.Leu200=) | |
16 | g.89919856C>G | CA397462232 | MC1R | c.598C>G (p.Leu200Val) | dbSNP gnomAD v4 |
16 | g.89919856C>T | CA286607558 | MC1R | c.598C>T (p.Leu200=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919857T>A | CA397462242 | MC1R | c.599T>A (p.Leu200Gln) | |
16 | g.89919857T>C | CA397462239 | MC1R | c.599T>C (p.Leu200Pro) | |
16 | g.89919857T>G | CA397462237 | MC1R | c.599T>G (p.Leu200Arg) | |
16 | g.89919858G>A | CA497380870 | MC1R | c.600G>A (p.Leu200=) | |
16 | g.89919858G>C | CA497380866 | MC1R | c.600G>C (p.Leu200=) | |
16 | g.89919858G>T | CA497380869 | MC1R | c.600G>T (p.Leu200=) | |
16 | g.89919859G>A | CA397462246 | MC1R | c.601G>A (p.Val201Met) | |
16 | g.89919859G>C | CA397462250 | MC1R | c.601G>C (p.Val201Leu) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.89919859G= | CA2242009671 | MC1R | c.601G= (p.Val201=) | |
16 | g.89919859G>T | CA397462257 | MC1R | c.601G>T (p.Val201Leu) | gnomAD v4 |
16 | g.89919860T>A | CA397462259 | MC1R | c.602T>A (p.Val201Glu) | |
16 | g.89919860T>C | CA8255674 | MC1R | c.602T>C (p.Val201Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919860T>G | CA397462264 | MC1R | c.602T>G (p.Val201Gly) | |
16 | g.89919860T= | CA2242009672 | MC1R | c.602T= (p.Val201=) | |
16 | g.89919861G>A | CA497380888 | MC1R | c.603G>A (p.Val201=) | gnomAD v4 |
16 | g.89919861G>C | CA497380884 | MC1R | c.603G>C (p.Val201=) | |
16 | g.89919861G>T | CA497380882 | MC1R | c.603G>T (p.Val201=) | gnomAD v4 |
16 | g.89919863_89919923del | CA2635066772 | MC1R | c.605_665del (p.Leu202ProfsTer?) | gnomAD v4 |
16 | g.89919862C>A | CA397462274 | MC1R | c.604C>A (p.Leu202Ile) | |
16 | g.89919862C>G | CA397462275 | MC1R | c.604C>G (p.Leu202Val) | |
16 | g.89919862C>T | CA397462276 | MC1R | c.604C>T (p.Leu202Phe) | |
16 | g.89919863T>A | CA397462279 | MC1R | c.605T>A (p.Leu202His) | |
16 | g.89919863T>C | CA397462280 | MC1R | c.605T>C (p.Leu202Pro) | |
16 | g.89919863T>G | CA397462282 | MC1R | c.605T>G (p.Leu202Arg) | |
16 | g.89919864C>A | CA497380894 | MC1R | c.606C>A (p.Leu202=) | gnomAD v4 |
16 | g.89919864C>G | CA497380901 | MC1R | c.606C>G (p.Leu202=) | |
16 | g.89919864C>T | CA497380898 | MC1R | c.606C>T (p.Leu202=) | |
16 | g.89919865A= | CA2242009673 | MC1R | c.607A= (p.Met203=) | |
16 | g.89919865A>C | CA397462283 | MC1R | c.607A>C (p.Met203Leu) | |
16 | g.89919865A>G | CA8255676 | MC1R | c.607A>G (p.Met203Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919865A>T | CA8255675 | MC1R | c.607A>T (p.Met203Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.89919866T>A | CA397462292 | MC1R | c.608T>A (p.Met203Lys) | |
16 | g.89919866T>C | CA8255678 | MC1R | c.608T>C (p.Met203Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.89919866T>G | CA397462300 | MC1R | c.608T>G (p.Met203Arg) | |
16 | g.89919866T= | CA2242009675 | MC1R | c.608T= (p.Met203=) | |
16 | g.89919871_89919894dup | CA2635066786 | MC1R | c.613_636dup (p.Ala212_Arg213insValLeuTyrValHisMetLeuAla) | gnomAD v4 |
16 | g.89919866_89919896delinsTGGCCGTGCTGTACGTCCACATGCTGGCCCG | CA2242009674 | MC1R | c.608_638delinsTGGCCGTGCTGTACGTCCACATGCTGGCCCG (p.Met203=) | |
16 | g.89919867G>A | CA397462308 | MC1R | c.609G>A (p.Met203Ile) | gnomAD v4 |
16 | g.89919867G>C | CA397462310 | MC1R | c.609G>C (p.Met203Ile) | |
16 | g.89919867G= | CA2242009676 | MC1R | c.609G= (p.Met203=) | |
16 | g.89919867G>T | CA397462313 | MC1R | c.609G>T (p.Met203Ile) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.89919871_89919900del | CA8255677 | MC1R | c.613_642del (p.Val205_Ala214del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.89919868G>A | CA397462319 | MC1R | c.610G>A (p.Ala204Thr) | gnomAD v4 |
16 | g.89919868G>C | CA397462321 | MC1R | c.610G>C (p.Ala204Pro) | |
16 | g.89919868G>T | CA397462325 | MC1R | c.610G>T (p.Ala204Ser) | |
16 | g.89919869C>A | CA397462344 | MC1R | c.611C>A (p.Ala204Asp) | |
16 | g.89919869C>G | CA397462333 | MC1R | c.611C>G (p.Ala204Gly) | COSMIC |
16 | g.89919869C>T | CA397462330 | MC1R | c.611C>T (p.Ala204Val) | gnomAD v4 COSMIC |
16 | g.89919870C>A | CA497380964 | MC1R | c.612C>A (p.Ala204=) | gnomAD v4 |
16 | g.89919870C= | CA2242009677 | MC1R | c.612C= (p.Ala204=) | |
16 | g.89919870C>G | CA497380965 | MC1R | c.612C>G (p.Ala204=) | dbSNP |
16 | g.89919870C>T | CA8255679 | MC1R | c.612C>T (p.Ala204=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919871del | CA2576104032 | MC1R | c.613del (p.Val205CysfsTer?) | |
16 | g.89919871G>A | CA8255680 | MC1R | c.613G>A (p.Val205Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.89919871G>C | CA397462347 | MC1R | c.613G>C (p.Val205Leu) | dbSNP gnomAD v4 |
16 | g.89919871G= | CA2242009678 | MC1R | c.613G= (p.Val205=) | |
16 | g.89919871G>T | CA397462348 | MC1R | c.613G>T (p.Val205Leu) | dbSNP |
16 | g.89919872T>A | CA397462349 | MC1R | c.614T>A (p.Val205Glu) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.89919872T>C | CA397462350 | MC1R | c.614T>C (p.Val205Ala) | |
16 | g.89919872T>G | CA397462352 | MC1R | c.614T>G (p.Val205Gly) | |
16 | g.89919872T= | CA2242009679 | MC1R | c.614T= (p.Val205=) | |
16 | g.89919873G>A | CA497380966 | MC1R | c.615G>A (p.Val205=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.89919873G>C | CA497380967 | MC1R | c.615G>C (p.Val205=) | |
16 | g.89919873G= | CA2242009680 | MC1R | c.615G= (p.Val205=) | |
16 | g.89919873G>T | CA497380968 | MC1R | c.615G>T (p.Val205=) | |
16 | g.89919874C>A | CA397462355 | MC1R | c.616C>A (p.Leu206Met) | |
16 | g.89919874C= | CA2242009681 | MC1R | c.616C= (p.Leu206=) | |
16 | g.89919874C>G | CA8255681 | MC1R | c.616C>G (p.Leu206Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.89919874C>T | CA497380969 | MC1R | c.616C>T (p.Leu206=) | dbSNP gnomAD v4 |
16 | g.89919875T>A | CA397462365 | MC1R | c.617T>A (p.Leu206Gln) | |
16 | g.89919875T>C | CA8255682 | MC1R | c.617T>C (p.Leu206Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919875T>G | CA397462367 | MC1R | c.617T>G (p.Leu206Arg) | |
16 | g.89919875T= | CA2242009682 | MC1R | c.617T= (p.Leu206=) | |
16 | g.89919876G>A | CA497380970 | MC1R | c.618G>A (p.Leu206=) | gnomAD v4 |
16 | g.89919876G>C | CA497380972 | MC1R | c.618G>C (p.Leu206=) | |
16 | g.89919876G>T | CA497380973 | MC1R | c.618G>T (p.Leu206=) | gnomAD v4 |
16 | g.89919877T>A | CA397462369 | MC1R | c.619T>A (p.Tyr207Asn) | |
16 | g.89919877T>C | CA397462370 | MC1R | c.619T>C (p.Tyr207His) | |
16 | g.89919877T>G | CA397462368 | MC1R | c.619T>G (p.Tyr207Asp) | |
16 | g.89919878A= | CA2242009683 | MC1R | c.620A= (p.Tyr207=) | |
16 | g.89919878A>C | CA397462376 | MC1R | c.620A>C (p.Tyr207Ser) | |
16 | g.89919878A>G | CA397462371 | MC1R | c.620A>G (p.Tyr207Cys) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.89919878A>T | CA397462374 | MC1R | c.620A>T (p.Tyr207Phe) | |
16 | g.89919879C>A | CA397462379 | MC1R | c.621C>A (p.Tyr207Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919879C= | CA2242009684 | MC1R | c.621C= (p.Tyr207=) | |
16 | g.89919879C>G | CA8255684 | MC1R | c.621C>G (p.Tyr207Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.89919879C>T | CA8255683 | MC1R | c.621C>T (p.Tyr207=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919880G>A | CA8255685 | MC1R | c.622G>A (p.Val208Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.89919880G>C | CA397462401 | MC1R | c.622G>C (p.Val208Leu) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.89919880G= | CA2242009685 | MC1R | c.622G= (p.Val208=) | |
16 | g.89919880G>T | CA397462388 | MC1R | c.622G>T (p.Val208Phe) | ClinVar dbSNP |
16 | g.89919881T>A | CA397462405 | MC1R | c.623T>A (p.Val208Asp) | |
16 | g.89919881T>C | CA286607568 | MC1R | c.623T>C (p.Val208Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919881T>G | CA397462409 | MC1R | c.623T>G (p.Val208Gly) | |
16 | g.89919881T= | CA2242009686 | MC1R | c.623T= (p.Val208=) | |
16 | g.89919882C>A | CA497380978 | MC1R | c.624C>A (p.Val208=) | |
16 | g.89919882C>G | CA497380979 | MC1R | c.624C>G (p.Val208=) | |
16 | g.89919882C>T | CA497380980 | MC1R | c.624C>T (p.Val208=) | gnomAD v4 |
16 | g.89919883C>A | CA397462413 | MC1R | c.625C>A (p.His209Asn) | |
16 | g.89919883C= | CA2242009687 | MC1R | c.625C= (p.His209=) | |
16 | g.89919883C>G | CA397462415 | MC1R | c.625C>G (p.His209Asp) | |
16 | g.89919883C>T | CA8255686 | MC1R | c.625C>T (p.His209Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919884A= | CA2242009688 | MC1R | c.626A= (p.His209=) | |
16 | g.89919884A>C | CA397462417 | MC1R | c.626A>C (p.His209Pro) | dbSNP |
16 | g.89919884A>G | CA8255687 | MC1R | c.626A>G (p.His209Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.89919884A>T | CA397462429 | MC1R | c.626A>T (p.His209Leu) |