Sugi Variant

Sugi Variant/MC1R

MC1R — 786 ClinVar variants

All ClinVar germline MC1R variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 408 flagged for review →

1 Pathogenic/Likely pathogenic · 2 Likely pathogenic · 47 Conflicting · 31 Benign · 27 Benign/Likely benign · 172 Likely benign · 506 Uncertain significance

Full MC1R gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 408

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors agree, ClinVar conflicts 21

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 285

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 285

Predictors split 102

The independent predictors disagree with each other — read with care.

All MC1R variants

Pathogenic/Likely pathogenic 1

  • p.Phe280fs Multiple submitters SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2

Likely pathogenic 2

  • p.Tyr74Ter Single submitter MC1R-related disorder
  • p.Tyr298Ter No assertion criteria oculocutaneous albinism type 2

Conflicting classifications of pathogenicity 47

  • p.Ala105= Single submitter melanoma, cutaneous malignant, susceptibility to, 5
  • p.Ala111Val Single submitter melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Ala164= Single submitter melanoma, cutaneous malignant, susceptibility to, 5
  • p.Ala181Thr Single submitter melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Ala299Thr Single submitter melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Ala57Thr Single submitter melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Ala61Thr Single submitter melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Arg109Gln Single submitter melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Arg109Trp Single submitter melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Arg142= Single submitter melanoma, cutaneous malignant, susceptibility to, 5
  • p.Arg142His Single submitter melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Arg151Cys Single submitter SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2 ⚠
  • p.Arg160Trp Single submitter SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2 ⚠
  • p.Arg162Gln Single submitter melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Arg162Trp Single submitter melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Arg213Trp Single submitter melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Arg223Trp Single submitter melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Arg306His Single submitter melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Arg34Gln Single submitter melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Arg8Lys Single submitter melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Asn290Ser Single submitter melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Asp84Glu Single submitter SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2 ⚠
  • p.Gln23Ter Single submitter MC1R-related disorder
  • p.Gly136= Single submitter melanoma, cutaneous malignant, susceptibility to, 5
  • p.Gly248= Single submitter melanoma, cutaneous malignant, susceptibility to, 5
  • p.Gly25= Single submitter melanoma, cutaneous malignant, susceptibility to, 5
  • p.Gly89Arg Single submitter MC1R-related disorder ⚠
  • p.Ile120Thr Single submitter melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Ile155Thr Single submitter oculocutaneous albinism type 2 ⚠
  • p.Ile287Met Single submitter melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Ile63= Single submitter melanoma, cutaneous malignant, susceptibility to, 5
  • p.Leu189= Single submitter melanoma, cutaneous malignant, susceptibility to, 5
  • p.Leu192= Single submitter melanoma, cutaneous malignant, susceptibility to, 5
  • p.Leu206= Single submitter melanoma, cutaneous malignant, susceptibility to, 5
  • p.Leu246= Single submitter melanoma, cutaneous malignant, susceptibility to, 5
  • p.Lys278Glu Single submitter Increased analgesia from kappa-opioid receptor agonist, female-specific ⚠
  • p.Phe134Ser Single submitter melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Phe45Leu Single submitter melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Pro22= Single submitter melanoma, cutaneous malignant, susceptibility to, 5
  • p.Pro256Ser Single submitter melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Ser172Ile Single submitter melanoma, cutaneous malignant, susceptibility to, 5
  • p.Ser83Pro Single submitter melanoma, cutaneous malignant, susceptibility to, 5
  • p.Thr272Met Single submitter melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Tyr152Ter Single submitter melanoma, cutaneous malignant, susceptibility to, 5
  • p.Val186Met Single submitter melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Val201Ala Single submitter melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Val312Ala Single submitter melanoma, cutaneous malignant, susceptibility to, 5 ⚠

Benign 31

  • c.-1063T>C Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • c.-114G>A Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • c.-1297T>C Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • c.-226A>T Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • c.-356A>G Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • c.-445G>A Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • c.-490C>T Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • c.-536C>T Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • c.-928A>G Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • c.*12G>A Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • c.*140A>G Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • c.*157C>A Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • c.*581A>G Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • p.Thr314= Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • p.Val92Met Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • c.-1016C>G Single submitter melanoma, cutaneous malignant, susceptibility to, 5
  • c.-1092G>A Single submitter melanoma, cutaneous malignant, susceptibility to, 5
  • c.-1234C>T Single submitter melanoma, cutaneous malignant, susceptibility to, 5
  • c.-1251C>T Single submitter melanoma, cutaneous malignant, susceptibility to, 5
  • c.-1371C>G Single submitter melanoma, cutaneous malignant, susceptibility to, 5
  • c.-13C>T Single submitter melanoma, cutaneous malignant, susceptibility to, 5
  • c.-323G>A Single submitter melanoma, cutaneous malignant, susceptibility to, 5
  • c.-374G>A Single submitter melanoma, cutaneous malignant, susceptibility to, 5
  • c.-450C>T Single submitter melanoma, cutaneous malignant, susceptibility to, 5
  • c.-535G>A Single submitter melanoma, cutaneous malignant, susceptibility to, 5
  • c.*209C>A Single submitter melanoma, cutaneous malignant, susceptibility to, 5
  • c.*337A>G Single submitter melanoma, cutaneous malignant, susceptibility to, 5
  • c.*380C>G Single submitter melanoma, cutaneous malignant, susceptibility to, 5
  • c.*761C>A Single submitter melanoma, cutaneous malignant, susceptibility to, 5
  • c.*76C>T Single submitter melanoma, cutaneous malignant, susceptibility to, 5
  • p.Phe251= Single submitter melanoma, cutaneous malignant, susceptibility to, 5

Benign/Likely benign 27

  • c.-1289C>T Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • p.Ala103= Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • p.Ala111= Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • p.Ala166Gly Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • p.Ala204= Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • p.Ala81Pro Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • p.Arg151= Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • p.Arg163Gln Multiple submitters Increased analgesia from kappa-opioid receptor agonist, female-specific
  • p.Arg67Gln Multiple submitters oculocutaneous albinism type 2
  • p.Cys133= Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • p.Cys273= Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • p.Gln233= Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • p.His185= Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • p.Ile138= Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • p.Ile168= Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • p.Ile264= Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • p.Leu211= Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • p.Phe196Leu Multiple submitters oculocutaneous albinism type 2 ⚠
  • p.Phe300= Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • p.Ser316= Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • p.Thr177= Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • p.Thr95Met Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • p.Tyr207= Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • p.Val122Met Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • p.Val156Leu Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • p.Val265= Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • p.Val60Leu Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5

Likely benign 172

  • c.*13C>T Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • p.Ala110= Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • p.Ala139= Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • p.Ala161= Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • p.Ala166= Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • p.Ala171= Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • p.Ala187= Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • p.Ala218Thr Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • p.Ala291= Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • p.Ala299= Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • p.Ala57= Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • p.Arg160= Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • p.Arg229= Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • p.Arg67= Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • p.Asn56= Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • p.Asp121= Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • p.Asp141= Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • p.Asp294= Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • p.Asp42= Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • p.Cys315= Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • p.Gly239= Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • p.Gly89= Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • p.His153= Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • p.His217= Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • p.Ile155= Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • p.Ile180= Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • p.Ile21= Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • p.Ile221= Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • p.Ile276= Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • p.Ile293= Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • p.Ile40= Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • p.Ile98= Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • p.Leu106= Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • p.Leu113= Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • p.Leu116= Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • p.Leu190= Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • p.Leu200= Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • p.Leu243= Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • p.Leu284= Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • p.Leu53= Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • p.Leu69= Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • p.Leu80= Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • p.Phe195= Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • p.Pro159= Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • p.Pro230= Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • p.Pro268= Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • p.Ser16= Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • p.Ser71= Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • p.Ser83= Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • p.Ser88= Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • p.Thr124= Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • p.Thr157= Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • p.Thr242= Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • p.Thr262= Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • p.Thr272= Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • p.Thr308= Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • p.Thr95= Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • p.Tyr148= Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • p.Tyr182= Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • p.Tyr183= Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • p.Tyr298= Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • p.Val119= Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • p.Val122= Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • p.Val170= Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • p.Val173= Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • p.Val188= Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • p.Val205= Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • c.-550G>A Single submitter melanoma, cutaneous malignant, susceptibility to, 5
  • p.Ala149= Single submitter
  • p.Ala167= Single submitter
  • p.Ala181= Single submitter
  • p.Ala2= Single submitter
  • p.Ala212= Single submitter
  • p.Ala214= Single submitter
  • p.Ala240= Single submitter
  • p.Ala285= Single submitter melanoma, cutaneous malignant, susceptibility to, 5
  • p.Ala33= Single submitter
  • p.Ala64= Single submitter
  • p.Ala81= Single submitter
  • p.Ala96= Single submitter
  • p.Arg109= Single submitter
  • p.Arg223= Single submitter
  • p.Arg34= Single submitter
  • p.Asn118= Single submitter
  • p.Asn15= Single submitter
  • p.Asn281Ser Single submitter melanoma, cutaneous malignant, susceptibility to, 5
  • p.Asn91= Single submitter
  • p.Asp184= Single submitter
  • p.Cys125= Single submitter
  • p.Cys253= Single submitter
  • p.Cys267= Single submitter
  • p.Cys275= Single submitter
  • p.Cys289= Single submitter
  • p.Cys35= Single submitter
  • p.Cys75= Single submitter
  • p.Gln228= Single submitter
  • p.Glu269= Single submitter
  • p.Glu37= Single submitter
  • p.Gly104Ser Single submitter melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Gly12= Single submitter
  • p.Gly234= Single submitter
  • p.Gly236= Single submitter
  • p.Gly32= Single submitter
  • p.Gly43= Single submitter melanoma, cutaneous malignant, susceptibility to, 5
  • p.Gly49= Single submitter
  • p.His209= Single submitter
  • p.His232= Single submitter
  • p.His270= Single submitter
  • p.His301= Single submitter
  • p.Ile123= Single submitter
  • p.Ile144= Single submitter
  • p.Ile249= Single submitter
  • p.Ile287= Single submitter
  • p.Ile288= Single submitter
  • p.Leu100= Single submitter
  • p.Leu101= Single submitter
  • p.Leu129= Single submitter
  • p.Leu132= Single submitter melanoma, cutaneous malignant, susceptibility to, 5
  • p.Leu135= Single submitter
  • p.Leu150= Single submitter melanoma, cutaneous malignant, susceptibility to, 5
  • p.Leu158= Single submitter
  • p.Leu178= Single submitter
  • p.Leu197= Single submitter
  • p.Leu24= Single submitter
  • p.Leu247= Single submitter
  • p.Leu252= Single submitter
  • p.Leu259= Single submitter
  • p.Leu263= Single submitter
  • p.Leu282= Single submitter
  • p.Leu296= Single submitter
  • p.Leu309= Single submitter
  • p.Leu313= Single submitter melanoma, cutaneous malignant, susceptibility to, 5
  • p.Leu36= Single submitter
  • p.Leu44= Single submitter
  • p.Leu46= Single submitter
  • p.Leu50= Single submitter melanoma, cutaneous malignant, susceptibility to, 5
  • p.Leu85= Single submitter
  • p.Leu93= Single submitter
  • p.Lys65= Single submitter
  • p.Phe179= Single submitter
  • p.Phe257= Single submitter
  • p.Phe258= Single submitter
  • p.Pro18= Single submitter
  • p.Pro256= Single submitter
  • p.Pro271= Single submitter
  • p.Pro295= Single submitter
  • p.Pro72= Single submitter
  • p.Ser126= Single submitter
  • p.Ser127= Single submitter
  • p.Ser13= Single submitter
  • p.Ser130= Single submitter
  • p.Ser154= Single submitter
  • p.Ser172= Single submitter
  • p.Ser302= Single submitter
  • p.Ser47= Single submitter
  • p.Ser47Ile Single submitter melanoma, cutaneous malignant, susceptibility to, 5
  • p.Ser6= Single submitter
  • p.Thr124Ile Single submitter
  • p.Thr17= Single submitter
  • p.Thr31= Single submitter
  • p.Thr62= Single submitter
  • p.Thr62Ala Single submitter
  • p.Tyr143= Single submitter
  • p.Val107= Single submitter
  • p.Val112= Single submitter
  • p.Val156= Single submitter
  • p.Val186= Single submitter
  • p.Val194= Single submitter
  • p.Val241= Single submitter melanoma, cutaneous malignant, susceptibility to, 5
  • p.Val3= Single submitter
  • p.Val38= Single submitter
  • p.Val92= Single submitter

Uncertain significance 506

Showing the top 300 by review status; the full set is in the sitemap.

  • c.-110A>C Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • c.-504G>A Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • c.*739A>T Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • p.Ala105Thr Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Ala137Ser Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Ala149Thr Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Ala166fs Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • p.Ala171Gly Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Ala181Gly Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Ala218Gly Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Ala2Ser Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Ala33Val Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Arg142Cys Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Arg160Gln Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Arg163Ter Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • p.Arg213Gln Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Arg34Trp Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Asn15Thr Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Asn279Lys Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Asn29fs Multiple submitters familial melanoma
  • p.Asn29Ser Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Asn56Tyr Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Asp121Glu Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • p.Asp184His Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Cys289Arg Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Cys35Tyr Multiple submitters oculocutaneous albinism type 2
  • p.Cys75Arg Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Glu304Val Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Gly239Asp Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Gly25Glu Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Gly49Glu Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.His260Leu Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.His260Tyr Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.His70Pro Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Ile144Val Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Ile180fs Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • p.Ile180Val Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Ile264Leu Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Ile288Met Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Ile288Val Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Leu224Phe Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Leu243Val Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Leu305Arg Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • p.Leu309Ile Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Leu309Val Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Leu53Phe Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Lys65Glu Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Met128Thr Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Met199Ile Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Met203Thr Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Met210Leu Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Met210Val Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Met73Ile Multiple submitters oculocutaneous albinism type 2 ⚠
  • p.Met73Val Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Phe195Val Multiple submitters Increased analgesia from kappa-opioid receptor agonist, female-specific ⚠
  • p.Phe277Leu Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Phe280Leu Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Phe283Ile Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • p.Phe300Val Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Pro18Ala Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Pro268Arg Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Pro268Leu Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Pro271Ala Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Pro295Ser Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Pro72Arg Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • p.Ser127Phe Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • p.Ser176Asn Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Ser41Cys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ser47Gly Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Thr177Met Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Thr19Ile Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Thr242Ile Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Thr244Pro Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Thr308Met Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Thr95Arg Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Trp169Ter Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • p.Trp317Cys Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Val156Ala Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Val170Met Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Val174del Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5
  • p.Val193Met Multiple submitters oculocutaneous albinism type 2 ⚠
  • p.Val205Met Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Val265Ile Multiple submitters melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Val38Met Multiple submitters oculocutaneous albinism type 2 ⚠
  • p.Val59Ala Multiple submitters oculocutaneous albinism type 2 ⚠
  • c.-1000G>C Single submitter melanoma, cutaneous malignant, susceptibility to, 5
  • c.-1006G>T Single submitter melanoma, cutaneous malignant, susceptibility to, 5
  • c.-101G>T Single submitter melanoma, cutaneous malignant, susceptibility to, 5
  • c.-1098C>T Single submitter melanoma, cutaneous malignant, susceptibility to, 5
  • c.-1125C>T Single submitter melanoma, cutaneous malignant, susceptibility to, 5
  • c.-1142G>A Single submitter melanoma, cutaneous malignant, susceptibility to, 5
  • c.-1143C>T Single submitter melanoma, cutaneous malignant, susceptibility to, 5
  • c.-1157A>C Single submitter melanoma, cutaneous malignant, susceptibility to, 5
  • c.-1177G>C Single submitter melanoma, cutaneous malignant, susceptibility to, 5
  • c.-1209C>T Single submitter melanoma, cutaneous malignant, susceptibility to, 5
  • c.-1230C>T Single submitter melanoma, cutaneous malignant, susceptibility to, 5
  • c.-1235A>T Single submitter melanoma, cutaneous malignant, susceptibility to, 5
  • c.-1243G>A Single submitter melanoma, cutaneous malignant, susceptibility to, 5
  • c.-1263G>A Single submitter melanoma, cutaneous malignant, susceptibility to, 5
  • c.-1274G>C Single submitter melanoma, cutaneous malignant, susceptibility to, 5
  • c.-1307A>C Single submitter melanoma, cutaneous malignant, susceptibility to, 5
  • c.-273G>C Single submitter melanoma, cutaneous malignant, susceptibility to, 5
  • c.-338C>T Single submitter melanoma, cutaneous malignant, susceptibility to, 5
  • c.-344C>T Single submitter melanoma, cutaneous malignant, susceptibility to, 5
  • c.-350C>G Single submitter melanoma, cutaneous malignant, susceptibility to, 5
  • c.-465C>G Single submitter melanoma, cutaneous malignant, susceptibility to, 5
  • c.-508C>T Single submitter melanoma, cutaneous malignant, susceptibility to, 5
  • c.-567C>T Single submitter melanoma, cutaneous malignant, susceptibility to, 5
  • c.-600C>T Single submitter melanoma, cutaneous malignant, susceptibility to, 5
  • c.-722G>C Single submitter melanoma, cutaneous malignant, susceptibility to, 5
  • c.-723T>C Single submitter melanoma, cutaneous malignant, susceptibility to, 5
  • c.-784A>G Single submitter melanoma, cutaneous malignant, susceptibility to, 5
  • c.-909A>G Single submitter melanoma, cutaneous malignant, susceptibility to, 5
  • c.-951G>A Single submitter melanoma, cutaneous malignant, susceptibility to, 5
  • c.-952C>T Single submitter melanoma, cutaneous malignant, susceptibility to, 5
  • c.-966C>T Single submitter melanoma, cutaneous malignant, susceptibility to, 5
  • c.-975G>A Single submitter melanoma, cutaneous malignant, susceptibility to, 5
  • c.-988A>C Single submitter melanoma, cutaneous malignant, susceptibility to, 5
  • c.-98C>G Single submitter melanoma, cutaneous malignant, susceptibility to, 5
  • c.*263C>T Single submitter melanoma, cutaneous malignant, susceptibility to, 5
  • c.*310C>G Single submitter melanoma, cutaneous malignant, susceptibility to, 5
  • c.*351T>C Single submitter melanoma, cutaneous malignant, susceptibility to, 5
  • c.*377G>C Single submitter melanoma, cutaneous malignant, susceptibility to, 5
  • c.*501C>G Single submitter melanoma, cutaneous malignant, susceptibility to, 5
  • c.*545C>T Single submitter melanoma, cutaneous malignant, susceptibility to, 5
  • c.*598T>C Single submitter melanoma, cutaneous malignant, susceptibility to, 5
  • c.*59C>G Single submitter melanoma, cutaneous malignant, susceptibility to, 5
  • c.*620G>T Single submitter melanoma, cutaneous malignant, susceptibility to, 5
  • c.*683A>G Single submitter melanoma, cutaneous malignant, susceptibility to, 5
  • c.*696G>C Single submitter melanoma, cutaneous malignant, susceptibility to, 5
  • p.Ala108Asp Single submitter melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Ala108Ser Single submitter ⚠
  • p.Ala108Val Single submitter ⚠
  • p.Ala110Val Single submitter ⚠
  • p.Ala111Thr Single submitter melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Ala137Thr Single submitter melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Ala139Gly Single submitter melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Ala139Ser Single submitter melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Ala139Thr Single submitter melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Ala149Pro Single submitter ⚠
  • p.Ala149Ser Single submitter ⚠
  • p.Ala149Val Single submitter melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Ala161Val Single submitter melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Ala164Gly Single submitter melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Ala166Thr Single submitter ⚠
  • p.Ala166Val Single submitter melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Ala167Pro Single submitter ⚠
  • p.Ala171Asp Single submitter melanoma, cutaneous malignant, susceptibility to, 5
  • p.Ala171Ser Single submitter melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Ala181Pro Single submitter melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Ala187Ser Single submitter ⚠
  • p.Ala198Val Single submitter melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Ala212Ser Single submitter melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Ala214Gly Single submitter ⚠
  • p.Ala214Thr Single submitter melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Ala214Val Single submitter ⚠
  • p.Ala218= Single submitter melanoma, cutaneous malignant, susceptibility to, 5
  • p.Ala218Val Single submitter ⚠
  • p.Ala222Pro Single submitter melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Ala222Ser Single submitter melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Ala222Thr Single submitter melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Ala222Tyr Single submitter melanoma, cutaneous malignant, susceptibility to, 5
  • p.Ala240Gly Single submitter melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Ala240Thr Single submitter melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Ala240Val Single submitter melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Ala27Asp Single submitter ⚠
  • p.Ala285Gly Single submitter melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Ala285Thr Single submitter melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Ala28Val Single submitter ⚠
  • p.Ala299Ser Single submitter melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Ala299Val Single submitter melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Ala2Gly Single submitter melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Ala33Pro Single submitter melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Ala57fs Single submitter melanoma, cutaneous malignant, susceptibility to, 5
  • p.Ala64Pro Single submitter melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Ala64Thr Single submitter melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Ala64Val Single submitter ⚠
  • p.Ala81Ser Single submitter ⚠
  • p.Arg142Ser Single submitter melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Arg151His Single submitter melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Arg162Leu Single submitter ⚠
  • p.Arg223Gln Single submitter melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Arg223Gly Single submitter melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Arg223Leu Single submitter ⚠
  • p.Arg229_Pro230insArg Single submitter melanoma, cutaneous malignant, susceptibility to, 5
  • p.Arg229Cys Single submitter ⚠
  • p.Arg229fs Single submitter melanoma, cutaneous malignant, susceptibility to, 5
  • p.Arg229His Single submitter melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Arg306Cys Single submitter melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Arg307del Single submitter melanoma, cutaneous malignant, susceptibility to, 5
  • p.Arg307fs Single submitter melanoma, cutaneous malignant, susceptibility to, 5
  • p.Arg34fs Single submitter melanoma, cutaneous malignant, susceptibility to, 5
  • p.Arg34Gly Single submitter ⚠
  • p.Arg67Trp Single submitter melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Arg9del Single submitter melanoma, cutaneous malignant, susceptibility to, 5
  • p.Arg9Lys Single submitter ⚠
  • p.Arg9Ser Single submitter ⚠
  • p.Asn118Asp Single submitter ⚠
  • p.Asn118Ser Single submitter ⚠
  • p.Asn15Lys Single submitter ⚠
  • p.Asn279Ser Single submitter melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Asn281Tyr Single submitter ⚠
  • p.Asn290Tyr Single submitter melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Asn29Lys Single submitter melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Asn29Thr Single submitter ⚠
  • p.Asn66His Single submitter
  • p.Asn66Lys Single submitter ⚠
  • p.Asn68fs Single submitter melanoma, cutaneous malignant, susceptibility to, 5
  • p.Asn68His Single submitter ⚠
  • p.Asn91_Val92delinsLysMet Single submitter melanoma, cutaneous malignant, susceptibility to, 5
  • p.Asp117Gly Single submitter melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Asp117Val Single submitter melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Asp141Glu Single submitter ⚠
  • p.Asp141Gly Single submitter ⚠
  • p.Asp141Tyr Single submitter ⚠
  • p.Asp141Val Single submitter melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Asp184Ala Single submitter melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Asp184Asn Single submitter melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Asp184Gly Single submitter melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Asp294Asn Single submitter melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Asp294Tyr Single submitter melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Asp42His Single submitter melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Asp42Ter Single submitter melanoma, cutaneous malignant, susceptibility to, 5
  • p.Cys125fs Single submitter MC1R-related disorder
  • p.Cys125Tyr Single submitter
  • p.Cys191Arg Single submitter ⚠
  • p.Cys215Ter Single submitter melanoma, cutaneous malignant, susceptibility to, 5
  • p.Cys253Arg Single submitter ⚠
  • p.Cys267Phe Single submitter melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Cys267Tyr Single submitter melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Cys275Arg Single submitter melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Cys315Arg Single submitter melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Cys315Ser Single submitter melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Cys315Trp Single submitter ⚠
  • p.Cys35Phe Single submitter melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Cys35Trp Single submitter
  • p.Cys75Ser Single submitter ⚠
  • p.Gln115fs Single submitter melanoma, cutaneous malignant, susceptibility to, 5
  • p.Gln219His Single submitter ⚠
  • p.Gln233Pro Single submitter melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Gln23His Single submitter melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Gln23Lys Single submitter ⚠
  • p.Gln303Arg Single submitter ⚠
  • p.Gln303fs Single submitter SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2
  • p.Gln303Lys Single submitter ⚠
  • p.Gln30Ter Single submitter melanoma, cutaneous malignant, susceptibility to, 5
  • p.Gln4Arg Single submitter ⚠
  • p.Gln4Leu Single submitter melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Gln4Lys Single submitter ⚠
  • p.Gln4Ter Single submitter melanoma, cutaneous malignant, susceptibility to, 5
  • p.Gln7Arg Single submitter melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Glu269Lys Single submitter melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Glu304Asp Single submitter ⚠
  • p.Glu304Lys Single submitter ⚠
  • p.Glu311Lys Single submitter ⚠
  • p.Glu37Gly Single submitter ⚠
  • p.Glu55Ala Single submitter ⚠
  • p.Glu55Lys Single submitter
  • p.Gly12Asp Single submitter melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Gly136Cys Single submitter melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Gly136Ser Single submitter ⚠
  • p.Gly220Asp Single submitter melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Gly220Val Single submitter ⚠
  • p.Gly236Asp Single submitter melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Gly236Cys Single submitter ⚠
  • p.Gly239Ser Single submitter ⚠
  • p.Gly248Asp Single submitter melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Gly248Cys Single submitter ⚠
  • p.Gly248Val Single submitter melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Gly255Arg Single submitter melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Gly255Asp Single submitter melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Gly25Trp Single submitter ⚠
  • p.Gly25Val Single submitter ⚠
  • p.Gly274Ser Single submitter melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Gly32Glu Single submitter ⚠
  • p.Gly43Arg Single submitter melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Gly43Glu Single submitter ⚠
  • p.Gly5Ala Single submitter ⚠
  • p.Gly5Glu Single submitter ⚠
  • p.Gly89Ala Single submitter melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.His153Tyr Single submitter ⚠
  • p.His209Arg Single submitter ⚠
  • p.His209Tyr Single submitter melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.His217Gln Single submitter
  • p.His225Arg Single submitter ⚠
  • p.His225Gln Single submitter ⚠
  • p.His232Tyr Single submitter ⚠
  • p.His270Asn Single submitter ⚠
  • p.His270Gln Single submitter ⚠
  • p.His70= Single submitter melanoma, cutaneous malignant, susceptibility to, 5
  • p.His70Tyr Single submitter melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Ile120Val Single submitter ⚠
  • p.Ile123Val Single submitter ⚠
  • p.Ile138Met Single submitter ⚠
  • p.Ile146= Single submitter melanoma, cutaneous malignant, susceptibility to, 5
  • p.Ile146Leu Single submitter melanoma, cutaneous malignant, susceptibility to, 5 ⚠
  • p.Ile146Met Single submitter ⚠
  • p.Ile146Thr Single submitter ⚠
  • p.Ile168Leu Single submitter ⚠
  • p.Ile168Met Single submitter melanoma, cutaneous malignant, susceptibility to, 5 ⚠