Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.89919704C>A | CA397460843 | MC1R | c.446C>A (p.Ala149Glu) | gnomAD v4 |
16 | g.89919704C= | CA2242009550 | MC1R | c.446C= (p.Ala149=) | |
16 | g.89919704C>G | CA397460844 | MC1R | c.446C>G (p.Ala149Gly) | |
16 | g.89919704C>T | CA397460847 | MC1R | c.446C>T (p.Ala149Val) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.89919705A= | CA2242009551 | MC1R | c.447A= (p.Ala149=) | |
16 | g.89919705A>C | CA497380721 | MC1R | c.447A>C (p.Ala149=) | dbSNP |
16 | g.89919705A>G | CA8255594 | MC1R | c.447A>G (p.Ala149=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.89919705A>T | CA497380722 | MC1R | c.447A>T (p.Ala149=) | |
16 | g.89919706C>A | CA397460850 | MC1R | c.448C>A (p.Leu150Met) | |
16 | g.89919706C>G | CA397460852 | MC1R | c.448C>G (p.Leu150Val) | gnomAD v4 |
16 | g.89919706C>T | CA497380723 | MC1R | c.448C>T (p.Leu150=) | |
16 | g.89919707T>A | CA397460855 | MC1R | c.449T>A (p.Leu150Gln) | gnomAD v4 |
16 | g.89919707T>C | CA397460856 | MC1R | c.449T>C (p.Leu150Pro) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.89919707T>G | CA397460859 | MC1R | c.449T>G (p.Leu150Arg) | |
16 | g.89919707T= | CA2242009552 | MC1R | c.449T= (p.Leu150=) | |
16 | g.89919708G>A | CA497380728 | MC1R | c.450G>A (p.Leu150=) | |
16 | g.89919708G>C | CA497380729 | MC1R | c.450G>C (p.Leu150=) | ClinVar dbSNP |
16 | g.89919708G= | CA2242009553 | MC1R | c.450G= (p.Leu150=) | |
16 | g.89919708G>T | CA497380730 | MC1R | c.450G>T (p.Leu150=) | dbSNP |
16 | g.89919709C>A | CA286607471 | MC1R | c.451C>A (p.Arg151Ser) | dbSNP gnomAD v4 |
16 | g.89919709C= | CA2242009554 | MC1R | c.451C= (p.Arg151=) | |
16 | g.89919709C>G | CA286607469 | MC1R | c.451C>G (p.Arg151Gly) | dbSNP |
16 | g.89919709C>T | CA123871 | MC1R | c.451C>T (p.Arg151Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919710G>A | CA8255595 | MC1R | c.452G>A (p.Arg151His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919710G>C | CA397460862 | MC1R | c.452G>C (p.Arg151Pro) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.89919710G= | CA2242009555 | MC1R | c.452G= (p.Arg151=) | |
16 | g.89919710G>T | CA397460864 | MC1R | c.452G>T (p.Arg151Leu) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.89919711C>A | CA497380737 | MC1R | c.453C>A (p.Arg151=) | gnomAD v4 |
16 | g.89919711C= | CA2242009556 | MC1R | c.453C= (p.Arg151=) | |
16 | g.89919711C>G | CA8255596 | MC1R | c.453C>G (p.Arg151=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919711C>T | CA497380736 | MC1R | c.453C>T (p.Arg151=) | gnomAD v4 |
16 | g.89919712T>A | CA397460866 | MC1R | c.454T>A (p.Tyr152Asn) | |
16 | g.89919712T>C | CA397460867 | MC1R | c.454T>C (p.Tyr152His) | |
16 | g.89919712T>G | CA397460868 | MC1R | c.454T>G (p.Tyr152Asp) | |
16 | g.89919713A= | CA2242009557 | MC1R | c.455A= (p.Tyr152=) | |
16 | g.89919713A>C | CA397460869 | MC1R | c.455A>C (p.Tyr152Ser) | dbSNP |
16 | g.89919713A>G | CA397460871 | MC1R | c.455A>G (p.Tyr152Cys) | dbSNP |
16 | g.89919713A>T | CA397460873 | MC1R | c.455A>T (p.Tyr152Phe) | |
16 | g.89919714C>A | CA8255597 | MC1R | c.456C>A (p.Tyr152Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.89919714C= | CA2242009558 | MC1R | c.456C= (p.Tyr152=) | |
16 | g.89919714C>G | CA397460875 | MC1R | c.456C>G (p.Tyr152Ter) | |
16 | g.89919714C>T | CA497380743 | MC1R | c.456C>T (p.Tyr152=) | gnomAD v4 |
16 | g.89919715C>A | CA397460881 | MC1R | c.457C>A (p.His153Asn) | gnomAD v4 |
16 | g.89919715C>G | CA397460879 | MC1R | c.457C>G (p.His153Asp) | |
16 | g.89919715C>T | CA397460877 | MC1R | c.457C>T (p.His153Tyr) | gnomAD v4 |
16 | g.89919716A>C | CA397460883 | MC1R | c.458A>C (p.His153Pro) | |
16 | g.89919716A>G | CA397460886 | MC1R | c.458A>G (p.His153Arg) | |
16 | g.89919716A>T | CA397460885 | MC1R | c.458A>T (p.His153Leu) | |
16 | g.89919717C>A | CA397460887 | MC1R | c.459C>A (p.His153Gln) | |
16 | g.89919717C= | CA2242009559 | MC1R | c.459C= (p.His153=) | |
16 | g.89919717C>G | CA397460889 | MC1R | c.459C>G (p.His153Gln) | |
16 | g.89919717C>T | CA8255598 | MC1R | c.459C>T (p.His153=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919718A>C | CA397460891 | MC1R | c.460A>C (p.Ser154Arg) | |
16 | g.89919718A>G | CA397460893 | MC1R | c.460A>G (p.Ser154Gly) | gnomAD v4 |
16 | g.89919718A>T | CA397460895 | MC1R | c.460A>T (p.Ser154Cys) | |
16 | g.89919719G>A | CA397460896 | MC1R | c.461G>A (p.Ser154Asn) | |
16 | g.89919719G>C | CA397460898 | MC1R | c.461G>C (p.Ser154Thr) | |
16 | g.89919719G>T | CA397460899 | MC1R | c.461G>T (p.Ser154Ile) | ClinVar gnomAD v4 |
16 | g.89919720C>A | CA397460900 | MC1R | c.462C>A (p.Ser154Arg) | gnomAD v4 |
16 | g.89919720C= | CA2242009560 | MC1R | c.462C= (p.Ser154=) | |
16 | g.89919720C>G | CA397460901 | MC1R | c.462C>G (p.Ser154Arg) | |
16 | g.89919720C>T | CA497380757 | MC1R | c.462C>T (p.Ser154=) | dbSNP |
16 | g.89919721A>C | CA397460906 | MC1R | c.463A>C (p.Ile155Leu) | |
16 | g.89919721A>G | CA397460903 | MC1R | c.463A>G (p.Ile155Val) | |
16 | g.89919721A>T | CA397460905 | MC1R | c.463A>T (p.Ile155Phe) | |
16 | g.89919722T>A | CA397460907 | MC1R | c.464T>A (p.Ile155Asn) | |
16 | g.89919722T>C | CA8255599 | MC1R | c.464T>C (p.Ile155Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919722T>G | CA397460909 | MC1R | c.464T>G (p.Ile155Ser) | |
16 | g.89919722T= | CA2242009561 | MC1R | c.464T= (p.Ile155=) | |
16 | g.89919723C>A | CA497380769 | MC1R | c.465C>A (p.Ile155=) | gnomAD v4 |
16 | g.89919723C= | CA2242009562 | MC1R | c.465C= (p.Ile155=) | |
16 | g.89919723C>G | CA286607472 | MC1R | c.465C>G (p.Ile155Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919723C>T | CA8255600 | MC1R | c.465C>T (p.Ile155=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919724G>A | CA8255602 | MC1R | c.466G>A (p.Val156Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919724G>C | CA8255601 | MC1R | c.466G>C (p.Val156Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919724G= | CA2242009563 | MC1R | c.466G= (p.Val156=) | |
16 | g.89919724G>T | CA397460912 | MC1R | c.466G>T (p.Val156Leu) | gnomAD v4 |
16 | g.89919725T>A | CA397460913 | MC1R | c.467T>A (p.Val156Glu) | |
16 | g.89919725T>C | CA8255603 | MC1R | c.467T>C (p.Val156Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919725T>G | CA397460916 | MC1R | c.467T>G (p.Val156Gly) | |
16 | g.89919725T= | CA2242009564 | MC1R | c.467T= (p.Val156=) | |
16 | g.89919726G>A | CA497380776 | MC1R | c.468G>A (p.Val156=) | |
16 | g.89919726G>C | CA497380778 | MC1R | c.468G>C (p.Val156=) | |
16 | g.89919726G= | CA2242009565 | MC1R | c.468G= (p.Val156=) | |
16 | g.89919726G>T | CA286607473 | MC1R | c.468G>T (p.Val156=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919727A= | CA2242009566 | MC1R | c.469A= (p.Thr157=) | |
16 | g.89919727A>C | CA8255604 | MC1R | c.469A>C (p.Thr157Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.89919727A>G | CA397460921 | MC1R | c.469A>G (p.Thr157Ala) | dbSNP gnomAD v2 |
16 | g.89919727A>T | CA397460918 | MC1R | c.469A>T (p.Thr157Ser) | |
16 | g.89919728C>A | CA397460923 | MC1R | c.470C>A (p.Thr157Asn) | gnomAD v4 |
16 | g.89919728C= | CA2242009567 | MC1R | c.470C= (p.Thr157=) | |
16 | g.89919728C>G | CA397460924 | MC1R | c.470C>G (p.Thr157Ser) | dbSNP |
16 | g.89919728C>T | CA123873 | MC1R | c.470C>T (p.Thr157Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919729C>A | CA497380791 | MC1R | c.471C>A (p.Thr157=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.89919729C= | CA2242009568 | MC1R | c.471C= (p.Thr157=) | |
16 | g.89919729C>G | CA497380793 | MC1R | c.471C>G (p.Thr157=) | |
16 | g.89919729C>T | CA286607474 | MC1R | c.471C>T (p.Thr157=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919730C>A | CA397460925 | MC1R | c.472C>A (p.Leu158Met) | gnomAD v4 |
16 | g.89919730C= | CA2242009569 | MC1R | c.472C= (p.Leu158=) | |
16 | g.89919730C>G | CA397460928 | MC1R | c.472C>G (p.Leu158Val) | |
16 | g.89919730C>T | CA497380797 | MC1R | c.472C>T (p.Leu158=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.89919731T>A | CA397460929 | MC1R | c.473T>A (p.Leu158Gln) | gnomAD v4 |
16 | g.89919731T>C | CA397460930 | MC1R | c.473T>C (p.Leu158Pro) | gnomAD v4 |
16 | g.89919731T>G | CA397460932 | MC1R | c.473T>G (p.Leu158Arg) | |
16 | g.89919732G>A | CA497380798 | MC1R | c.474G>A (p.Leu158=) | |
16 | g.89919732G>C | CA8255605 | MC1R | c.474G>C (p.Leu158=) | dbSNP ExAC gnomAD v2 |
16 | g.89919732G= | CA2242009570 | MC1R | c.474G= (p.Leu158=) | |
16 | g.89919732G>T | CA497380799 | MC1R | c.474G>T (p.Leu158=) | gnomAD v4 |
16 | g.89919733C>A | CA123875 | MC1R | c.475C>A (p.Pro159Thr) | ClinVar dbSNP gnomAD v4 |
16 | g.89919733C= | CA2242009571 | MC1R | c.475C= (p.Pro159=) | |
16 | g.89919733C>G | CA397460936 | MC1R | c.475C>G (p.Pro159Ala) | |
16 | g.89919733C>T | CA8255606 | MC1R | c.475C>T (p.Pro159Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919734C>A | CA397460940 | MC1R | c.476C>A (p.Pro159Gln) | |
16 | g.89919734C= | CA2242009572 | MC1R | c.476C= (p.Pro159=) | |
16 | g.89919734C>G | CA397460942 | MC1R | c.476C>G (p.Pro159Arg) | |
16 | g.89919734C>T | CA8255607 | MC1R | c.476C>T (p.Pro159Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.89919735G>A | CA8255608 | MC1R | c.477G>A (p.Pro159=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.89919735G>C | CA497380801 | MC1R | c.477G>C (p.Pro159=) | |
16 | g.89919735G= | CA2242009573 | MC1R | c.477G= (p.Pro159=) | |
16 | g.89919735G>T | CA497380803 | MC1R | c.477G>T (p.Pro159=) | gnomAD v4 |
16 | g.89919736C>A | CA497380805 | MC1R | c.478C>A (p.Arg160=) | gnomAD v4 |
16 | g.89919736C= | CA2242009574 | MC1R | c.478C= (p.Arg160=) | |
16 | g.89919736C>G | CA397460945 | MC1R | c.478C>G (p.Arg160Gly) | |
16 | g.89919736C>T | CA123867 | MC1R | c.478C>T (p.Arg160Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919737G>A | CA8255609 | MC1R | c.479G>A (p.Arg160Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919737G>C | CA397460949 | MC1R | c.479G>C (p.Arg160Pro) | gnomAD v4 |
16 | g.89919737G= | CA2242009575 | MC1R | c.479G= (p.Arg160=) | |
16 | g.89919737G>T | CA397460951 | MC1R | c.479G>T (p.Arg160Leu) | gnomAD v4 |
16 | g.89919739dup | CA2695224047 | MC1R | c.481dup (p.Ala161GlyfsTer?) | |
16 | g.89919738G>A | CA8255610 | MC1R | c.480G>A (p.Arg160=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.89919738G>C | CA497380815 | MC1R | c.480G>C (p.Arg160=) | |
16 | g.89919738G= | CA2242009576 | MC1R | c.480G= (p.Arg160=) | |
16 | g.89919738G>T | CA286607482 | MC1R | c.480G>T (p.Arg160=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.89919739G>A | CA397460954 | MC1R | c.481G>A (p.Ala161Thr) | |
16 | g.89919739G>C | CA397460955 | MC1R | c.481G>C (p.Ala161Pro) | |
16 | g.89919739G>T | CA397460957 | MC1R | c.481G>T (p.Ala161Ser) | gnomAD v4 |
16 | g.89919740C>A | CA8255611 | MC1R | c.482C>A (p.Ala161Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919740C= | CA2242009577 | MC1R | c.482C= (p.Ala161=) | |
16 | g.89919740C>G | CA397461500 | MC1R | c.482C>G (p.Ala161Gly) | |
16 | g.89919740C>T | CA8255612 | MC1R | c.482C>T (p.Ala161Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919740_89919753delinsCGCGGCGAGCCGTT | CA2242009578 | MC1R | c.482_495delinsCGCGGCGAGCCGTT (p.Ala161=) | |
16 | g.89919741G>A | CA8255613 | MC1R | c.483G>A (p.Ala161=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919741G>C | CA497380334 | MC1R | c.483G>C (p.Ala161=) | |
16 | g.89919741G= | CA2242009579 | MC1R | c.483G= (p.Ala161=) | |
16 | g.89919741G>T | CA497380336 | MC1R | c.483G>T (p.Ala161=) | gnomAD v4 |
16 | g.89919746_89919758del | CA624455294 | MC1R | c.488_500del (p.Arg163ProfsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919742C>A | CA497380338 | MC1R | c.484C>A (p.Arg162=) | |
16 | g.89919742C= | CA2242009580 | MC1R | c.484C= (p.Arg162=) | |
16 | g.89919742C>G | CA8255614 | MC1R | c.484C>G (p.Arg162Gly) | dbSNP ExAC |
16 | g.89919742C>T | CA8255615 | MC1R | c.484C>T (p.Arg162Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919743G>A | CA8255616 | MC1R | c.485G>A (p.Arg162Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919743G>C | CA397461510 | MC1R | c.485G>C (p.Arg162Pro) | |
16 | g.89919743G= | CA2242009581 | MC1R | c.485G= (p.Arg162=) | |
16 | g.89919743G>T | CA397461514 | MC1R | c.485G>T (p.Arg162Leu) | gnomAD v4 |
16 | g.89919745_89919765del | CA2635066374 | MC1R | c.487_507del (p.Arg163_Trp169del) | gnomAD v4 |
16 | g.89919744G>A | CA497380345 | MC1R | c.486G>A (p.Arg162=) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.89919744G>C | CA497380348 | MC1R | c.486G>C (p.Arg162=) | |
16 | g.89919744G= | CA2242009582 | MC1R | c.486G= (p.Arg162=) | |
16 | g.89919744G>T | CA497380347 | MC1R | c.486G>T (p.Arg162=) | gnomAD v4 |
16 | g.89919745C>A | CA497380350 | MC1R | c.487C>A (p.Arg163=) | gnomAD v4 |
16 | g.89919745C= | CA2242009583 | MC1R | c.487C= (p.Arg163=) | |
16 | g.89919745C>G | CA8255617 | MC1R | c.487C>G (p.Arg163Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.89919745C>T | CA8255618 | MC1R | c.487C>T (p.Arg163Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.89919745_89919756delinsCGAGCCGTTGCG | CA2242009584 | MC1R | c.487_498delinsCGAGCCGTTGCG (p.Arg163=) | |
16 | g.89919746G>A | CA8255619 | MC1R | c.488G>A (p.Arg163Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919746G>C | CA397461518 | MC1R | c.488G>C (p.Arg163Pro) | dbSNP |
16 | g.89919746G= | CA2242009586 | MC1R | c.488G= (p.Arg163=) | |
16 | g.89919746G>T | CA397461521 | MC1R | c.488G>T (p.Arg163Leu) | gnomAD v4 |
16 | g.89919747_89919757del | CA2242009585 | MC1R | c.489_499del (p.Ala164HisfsTer?) | dbSNP gnomAD v4 |
16 | g.89919747A>C | CA497380361 | MC1R | c.489A>C (p.Arg163=) | |
16 | g.89919747A>G | CA497380362 | MC1R | c.489A>G (p.Arg163=) | |
16 | g.89919747A>T | CA497380364 | MC1R | c.489A>T (p.Arg163=) | |
16 | g.89919748G>A | CA8255620 | MC1R | c.490G>A (p.Ala164Thr) | dbSNP ExAC gnomAD v2 |
16 | g.89919748G>C | CA397461527 | MC1R | c.490G>C (p.Ala164Pro) | |
16 | g.89919748G= | CA2242009587 | MC1R | c.490G= (p.Ala164=) | |
16 | g.89919748G>T | CA397461524 | MC1R | c.490G>T (p.Ala164Ser) | gnomAD v4 |
16 | g.89919749C>A | CA397461529 | MC1R | c.491C>A (p.Ala164Asp) | gnomAD v4 |
16 | g.89919749C>G | CA397461531 | MC1R | c.491C>G (p.Ala164Gly) | ClinVar |
16 | g.89919749C>T | CA397461532 | MC1R | c.491C>T (p.Ala164Val) | gnomAD v4 |
16 | g.89919750C>A | CA497380378 | MC1R | c.492C>A (p.Ala164=) | gnomAD v4 |
16 | g.89919750C= | CA2242009588 | MC1R | c.492C= (p.Ala164=) | |
16 | g.89919750C>G | CA497380382 | MC1R | c.492C>G (p.Ala164=) | gnomAD v4 |
16 | g.89919750C>T | CA8255621 | MC1R | c.492C>T (p.Ala164=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919751G>A | CA8255622 | MC1R | c.493G>A (p.Val165Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919751G>C | CA397461538 | MC1R | c.493G>C (p.Val165Leu) | dbSNP |
16 | g.89919751G= | CA2242009589 | MC1R | c.493G= (p.Val165=) | |
16 | g.89919751G>T | CA397461539 | MC1R | c.493G>T (p.Val165Phe) | 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 |