Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.25161101_25161102insAACTCGCCCTTCTTGTAGGC | CA2658163187 | POMC | c.802_803insTGCCTACAAGAAGGGCGAGT (p.Ter268LeuextTer?) | gnomAD v4 |
2 | g.25161086_25161098delinsCGCCCTTCTTGTA | CA1239226800 | POMC | c.787_799delinsTACAAGAAGGGCG (p.Tyr263=) | |
2 | g.25161088_25161099del | CA43684282 | POMC | c.787_798del (p.Tyr263_Gly266del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161090_25161102delinsCTTCTTGTAGGCG | CA1239226820 | POMC | c.783_795delinsCGCCTACAAGAAG (p.Asn261=) | |
2 | g.25161097_25161108del | CA531760826 | POMC | c.783_794del (p.Asn261_Lys264del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161097T>A | CA346066040 | POMC | c.788A>T (p.Tyr263Phe) | |
2 | g.25161097T>C | CA346066041 | POMC | c.788A>G (p.Tyr263Cys) | gnomAD v4 |
2 | g.25161097T>G | CA346066042 | POMC | c.788A>C (p.Tyr263Ser) | |
2 | g.25161098A= | CA1239226833 | POMC | c.787T= (p.Tyr263=) | |
2 | g.25161098A>C | CA346066047 | POMC | c.787T>G (p.Tyr263Asp) | |
2 | g.25161098A>G | CA346066043 | POMC | c.787T>C (p.Tyr263His) | |
2 | g.25161098A>T | CA346066045 | POMC | c.787T>A (p.Tyr263Asn) | |
2 | g.25161099G>A | CA425352832 | POMC | c.786C>T (p.Ala262=) | dbSNP |
2 | g.25161099G>C | CA425352835 | POMC | c.786C>G (p.Ala262=) | |
2 | g.25161099G= | CA1239226837 | POMC | c.786C= (p.Ala262=) | |
2 | g.25161099G>T | CA425352834 | POMC | c.786C>A (p.Ala262=) | |
2 | g.25161099_25161111dup | CA916494168 | POMC | c.774_786dup (p.Tyr263HisfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.25161100G>A | CA346066049 | POMC | c.785C>T (p.Ala262Val) | |
2 | g.25161100G>C | CA346066051 | POMC | c.785C>G (p.Ala262Gly) | |
2 | g.25161100G>T | CA346066052 | POMC | c.785C>A (p.Ala262Asp) | |
2 | g.25161101C>A | CA346066053 | POMC | c.784G>T (p.Ala262Ser) | |
2 | g.25161101C= | CA1239226840 | POMC | c.784G= (p.Ala262=) | |
2 | g.25161101C>G | CA346066054 | POMC | c.784G>C (p.Ala262Pro) | |
2 | g.25161101C>T | CA1555214 | POMC | c.784G>A (p.Ala262Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.25161102G>A | CA425352837 | POMC | c.783C>T (p.Asn261=) | dbSNP |
2 | g.25161102G>C | CA346066055 | POMC | c.783C>G (p.Asn261Lys) | gnomAD v4 |
2 | g.25161102G>T | CA346066056 | POMC | c.783C>A (p.Asn261Lys) | |
2 | g.25161103T>A | CA346066057 | POMC | c.782A>T (p.Asn261Ile) | |
2 | g.25161103T>C | CA346066058 | POMC | c.782A>G (p.Asn261Ser) | |
2 | g.25161103T>G | CA346066059 | POMC | c.782A>C (p.Asn261Thr) | |
2 | g.25161104T>A | CA346066062 | POMC | c.781A>T (p.Asn261Tyr) | |
2 | g.25161104T>C | CA346066061 | POMC | c.781A>G (p.Asn261Asp) | |
2 | g.25161104T>G | CA346066060 | POMC | c.781A>C (p.Asn261His) | |
2 | g.25161105C>A | CA346066063 | POMC | c.780G>T (p.Lys260Asn) | |
2 | g.25161105C>G | CA346066064 | POMC | c.780G>C (p.Lys260Asn) | |
2 | g.25161105C>T | CA425352840 | POMC | c.780G>A (p.Lys260=) | |
2 | g.25161106T>A | CA346066065 | POMC | c.779A>T (p.Lys260Met) | |
2 | g.25161106T>C | CA346066067 | POMC | c.779A>G (p.Lys260Arg) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.25161106T>G | CA346066066 | POMC | c.779A>C (p.Lys260Thr) | gnomAD v4 |
2 | g.25161106T= | CA1239226845 | POMC | c.779A= (p.Lys260=) | |
2 | g.25161106_25161109delinsTTGA | CA1239226844 | POMC | c.776_779delinsTCAA (p.Ile259=) | |
2 | g.25161107T>A | CA346066068 | POMC | c.778A>T (p.Lys260Ter) | |
2 | g.25161107T>C | CA346066069 | POMC | c.778A>G (p.Lys260Glu) | |
2 | g.25161107T>G | CA346066070 | POMC | c.778A>C (p.Lys260Gln) | |
2 | g.25161112_25161114del | CA531760827 | POMC | c.776_778del (p.Ile259del) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.25161108G>A | CA425352846 | POMC | c.777C>T (p.Ile259=) | |
2 | g.25161108G>C | CA346066071 | POMC | c.777C>G (p.Ile259Met) | gnomAD v4 |
2 | g.25161108G>T | CA425352848 | POMC | c.777C>A (p.Ile259=) | |
2 | g.25161109A>C | CA346066072 | POMC | c.776T>G (p.Ile259Ser) | |
2 | g.25161109A>G | CA346066073 | POMC | c.776T>C (p.Ile259Thr) | |
2 | g.25161109A>T | CA346066074 | POMC | c.776T>A (p.Ile259Asn) | gnomAD v4 |
2 | g.25161110T>A | CA346066075 | POMC | c.775A>T (p.Ile259Phe) | |
2 | g.25161110T>C | CA346066076 | POMC | c.775A>G (p.Ile259Val) | dbSNP |
2 | g.25161110T>G | CA346066077 | POMC | c.775A>C (p.Ile259Leu) | |
2 | g.25161110T= | CA1239226851 | POMC | c.775A= (p.Ile259=) | |
2 | g.25161111G>A | CA425352852 | POMC | c.774C>T (p.Ile258=) | |
2 | g.25161111G>C | CA346066078 | POMC | c.774C>G (p.Ile258Met) | |
2 | g.25161111G>T | CA425352853 | POMC | c.774C>A (p.Ile258=) | gnomAD v4 |
2 | g.25161112A>C | CA346066081 | POMC | c.773T>G (p.Ile258Ser) | |
2 | g.25161112A>G | CA346066079 | POMC | c.773T>C (p.Ile258Thr) | |
2 | g.25161112A>T | CA346066080 | POMC | c.773T>A (p.Ile258Asn) | |
2 | g.25161113T>A | CA346066082 | POMC | c.772A>T (p.Ile258Phe) | |
2 | g.25161113T>C | CA346066083 | POMC | c.772A>G (p.Ile258Val) | gnomAD v4 |
2 | g.25161113T>G | CA346066084 | POMC | c.772A>C (p.Ile258Leu) | |
2 | g.25161114G>A | CA425352856 | POMC | c.771C>T (p.Ala257=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161114G>C | CA425352857 | POMC | c.771C>G (p.Ala257=) | |
2 | g.25161114G= | CA1239226855 | POMC | c.771C= (p.Ala257=) | |
2 | g.25161114G>T | CA425352858 | POMC | c.771C>A (p.Ala257=) | |
2 | g.25161115G>A | CA1555215 | POMC | c.770C>T (p.Ala257Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161115G>C | CA346066085 | POMC | c.770C>G (p.Ala257Gly) | |
2 | g.25161115G= | CA1239226858 | POMC | c.770C= (p.Ala257=) | |
2 | g.25161115G>T | CA346066086 | POMC | c.770C>A (p.Ala257Asp) | |
2 | g.25161116C>A | CA346066087 | POMC | c.769G>T (p.Ala257Ser) | |
2 | g.25161116C>G | CA346066088 | POMC | c.769G>C (p.Ala257Pro) | |
2 | g.25161116C>T | CA346066089 | POMC | c.769G>A (p.Ala257Thr) | gnomAD v4 COSMIC |
2 | g.25161117G>A | CA425352866 | POMC | c.768C>T (p.Asn256=) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
2 | g.25161117G>C | CA346066090 | POMC | c.768C>G (p.Asn256Lys) | gnomAD v4 |
2 | g.25161117G= | CA1239226861 | POMC | c.768C= (p.Asn256=) | |
2 | g.25161117G>T | CA346066091 | POMC | c.768C>A (p.Asn256Lys) | COSMIC |
2 | g.25161117_25161118delinsGT | CA1239226862 | POMC | c.767_768delinsAC (p.Asn256=) | |
2 | g.25161118T>A | CA346066093 | POMC | c.767A>T (p.Asn256Ile) | |
2 | g.25161118T>C | CA346066094 | POMC | c.767A>G (p.Asn256Ser) | |
2 | g.25161118T>G | CA346066092 | POMC | c.767A>C (p.Asn256Thr) | |
2 | g.25161122dup | CA43684287 | POMC | c.767dup (p.Asn256LysfsTer?) | dbSNP |
2 | g.25161122del | CA425352872 | POMC | c.767del (p.Asn256ThrfsTer?) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
2 | g.25161119T>A | CA346066095 | POMC | c.766A>T (p.Asn256Tyr) | |
2 | g.25161119T>C | CA346066096 | POMC | c.766A>G (p.Asn256Asp) | |
2 | g.25161119T>G | CA346066097 | POMC | c.766A>C (p.Asn256His) | |
2 | g.25161120T>A | CA346066098 | POMC | c.765A>T (p.Lys255Asn) | |
2 | g.25161120T>C | CA425352873 | POMC | c.765A>G (p.Lys255=) | |
2 | g.25161120T>G | CA346066099 | POMC | c.765A>C (p.Lys255Asn) | |
2 | g.25161121T>A | CA346066100 | POMC | c.764A>T (p.Lys255Ile) | |
2 | g.25161121T>C | CA346066101 | POMC | c.764A>G (p.Lys255Arg) | |
2 | g.25161121T>G | CA346066102 | POMC | c.764A>C (p.Lys255Thr) | |
2 | g.25161122T>A | CA346066103 | POMC | c.763A>T (p.Lys255Ter) | |
2 | g.25161122T>C | CA346066104 | POMC | c.763A>G (p.Lys255Glu) | |
2 | g.25161122T>G | CA346066105 | POMC | c.763A>C (p.Lys255Gln) | |
2 | g.25161123G>A | CA425352881 | POMC | c.762C>T (p.Phe254=) | |
2 | g.25161123G>C | CA346066106 | POMC | c.762C>G (p.Phe254Leu) | |
2 | g.25161123G>T | CA346066107 | POMC | c.762C>A (p.Phe254Leu) | |
2 | g.25161124A>C | CA346066110 | POMC | c.761T>G (p.Phe254Cys) | |
2 | g.25161124A>G | CA346066109 | POMC | c.761T>C (p.Phe254Ser) | |
2 | g.25161124A>T | CA346066108 | POMC | c.761T>A (p.Phe254Tyr) | |
2 | g.25161125A= | CA1239226875 | POMC | c.760T= (p.Phe254=) | |
2 | g.25161125A>C | CA346066111 | POMC | c.760T>G (p.Phe254Val) | |
2 | g.25161125A>G | CA346066112 | POMC | c.760T>C (p.Phe254Leu) | |
2 | g.25161125A>T | CA1555216 | POMC | c.760T>A (p.Phe254Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25161126C>A | CA425352888 | POMC | c.759G>T (p.Leu253=) | |
2 | g.25161126C>G | CA425352889 | POMC | c.759G>C (p.Leu253=) | |
2 | g.25161126C>T | CA425352890 | POMC | c.759G>A (p.Leu253=) | |
2 | g.25161127A= | CA1239226879 | POMC | c.758T= (p.Leu253=) | |
2 | g.25161127A>C | CA346066113 | POMC | c.758T>G (p.Leu253Arg) | |
2 | g.25161127A>G | CA346066114 | POMC | c.758T>C (p.Leu253Pro) | |
2 | g.25161127A>T | CA1555217 | POMC | c.758T>A (p.Leu253Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161128G>A | CA425352891 | POMC | c.757C>T (p.Leu253=) | |
2 | g.25161128G>C | CA346066115 | POMC | c.757C>G (p.Leu253Val) | |
2 | g.25161128G>T | CA346066116 | POMC | c.757C>A (p.Leu253Met) | |
2 | g.25161129C>A | CA1555218 | POMC | c.756G>T (p.Thr252=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161129C= | CA1239226882 | POMC | c.756G= (p.Thr252=) | |
2 | g.25161129C>G | CA425352900 | POMC | c.756G>C (p.Thr252=) | dbSNP |
2 | g.25161129C>T | CA425352894 | POMC | c.756G>A (p.Thr252=) | |
2 | g.25161130G>A | CA1555219 | POMC | c.755C>T (p.Thr252Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.25161130G>C | CA346066117 | POMC | c.755C>G (p.Thr252Arg) | gnomAD v4 |
2 | g.25161130G= | CA1239226887 | POMC | c.755C= (p.Thr252=) | |
2 | g.25161130G>T | CA346066118 | POMC | c.755C>A (p.Thr252Lys) | |
2 | g.25161131T>A | CA346066121 | POMC | c.754A>T (p.Thr252Ser) | |
2 | g.25161131T>C | CA346066120 | POMC | c.754A>G (p.Thr252Ala) | |
2 | g.25161131T>G | CA346066119 | POMC | c.754A>C (p.Thr252Pro) | |
2 | g.25161132C>A | CA425352915 | POMC | c.753G>T (p.Val251=) | |
2 | g.25161132C>G | CA425352919 | POMC | c.753G>C (p.Val251=) | |
2 | g.25161132C>T | CA425352921 | POMC | c.753G>A (p.Val251=) | gnomAD v4 |
2 | g.25161133A= | CA1239226890 | POMC | c.752T= (p.Val251=) | |
2 | g.25161133A>C | CA346066122 | POMC | c.752T>G (p.Val251Gly) | dbSNP |
2 | g.25161133A>G | CA346066124 | POMC | c.752T>C (p.Val251Ala) | |
2 | g.25161133A>T | CA346066123 | POMC | c.752T>A (p.Val251Glu) | gnomAD v4 |
2 | g.25161134C>A | CA346066125 | POMC | c.751G>T (p.Val251Leu) | |
2 | g.25161134C>G | CA346066126 | POMC | c.751G>C (p.Val251Leu) | |
2 | g.25161134C>T | CA346066127 | POMC | c.751G>A (p.Val251Met) | |
2 | g.25161135C>A | CA425352922 | POMC | c.750G>T (p.Leu250=) | |
2 | g.25161135C= | CA1239226893 | POMC | c.750G= (p.Leu250=) | |
2 | g.25161135C>G | CA425352923 | POMC | c.750G>C (p.Leu250=) | |
2 | g.25161135C>T | CA1555220 | POMC | c.750G>A (p.Leu250=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25161136A= | CA1239226897 | POMC | c.749T= (p.Leu250=) | |
2 | g.25161136A>C | CA346066128 | POMC | c.749T>G (p.Leu250Arg) | gnomAD v4 |
2 | g.25161136A>G | CA346066129 | POMC | c.749T>C (p.Leu250Pro) | gnomAD v4 |
2 | g.25161136A>T | CA346066130 | POMC | c.749T>A (p.Leu250Gln) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.25161137G>A | CA425352928 | POMC | c.748C>T (p.Leu250=) | gnomAD v4 |
2 | g.25161137G>C | CA346066131 | POMC | c.748C>G (p.Leu250Val) | |
2 | g.25161137G>T | CA346066132 | POMC | c.748C>A (p.Leu250Met) | |
2 | g.25161138G>A | CA1555221 | POMC | c.747C>T (p.Pro249=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
2 | g.25161138G>C | CA425352934 | POMC | c.747C>G (p.Pro249=) | gnomAD v4 |
2 | g.25161138G= | CA1239226900 | POMC | c.747C= (p.Pro249=) | |
2 | g.25161138G>T | CA1555222 | POMC | c.747C>A (p.Pro249=) | dbSNP ExAC gnomAD v2 |
2 | g.25161139G>A | CA346066135 | POMC | c.746C>T (p.Pro249Leu) | gnomAD v4 |
2 | g.25161139G>C | CA346066134 | POMC | c.746C>G (p.Pro249Arg) | |
2 | g.25161139G>T | CA346066133 | POMC | c.746C>A (p.Pro249His) | |
2 | g.25161140G>A | CA1555223 | POMC | c.745C>T (p.Pro249Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.25161140G>C | CA346066136 | POMC | c.745C>G (p.Pro249Ala) | |
2 | g.25161140G= | CA1239226905 | POMC | c.745C= (p.Pro249=) | |
2 | g.25161140G>T | CA346066137 | POMC | c.745C>A (p.Pro249Thr) | |
2 | g.25161141C>A | CA425352945 | POMC | c.744G>T (p.Thr248=) | dbSNP gnomAD v2 |
2 | g.25161141C= | CA1239226910 | POMC | c.744G= (p.Thr248=) | |
2 | g.25161141C>G | CA425352943 | POMC | c.744G>C (p.Thr248=) | |
2 | g.25161141C>T | CA1555224 | POMC | c.744G>A (p.Thr248=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25161142G>A | CA1555225 | POMC | c.743C>T (p.Thr248Met) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
2 | g.25161142G>C | CA346066138 | POMC | c.743C>G (p.Thr248Arg) | |
2 | g.25161142G= | CA1239226915 | POMC | c.743C= (p.Thr248=) | |
2 | g.25161142G>T | CA346066139 | POMC | c.743C>A (p.Thr248Lys) | |
2 | g.25161143T>A | CA346066140 | POMC | c.742A>T (p.Thr248Ser) | |
2 | g.25161143T>C | CA1555226 | POMC | c.742A>G (p.Thr248Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161143T>G | CA346066141 | POMC | c.742A>C (p.Thr248Pro) | |
2 | g.25161143T= | CA1239226918 | POMC | c.742A= (p.Thr248=) | |
2 | g.25161144C>A | CA346066142 | POMC | c.741G>T (p.Gln247His) | |
2 | g.25161144C>G | CA346066143 | POMC | c.741G>C (p.Gln247His) | dbSNP |
2 | g.25161144C>T | CA425352955 | POMC | c.741G>A (p.Gln247=) | dbSNP |
2 | g.25161144_25161145delinsCT | CA1239226924 | POMC | c.740_741delinsAG (p.Gln247=) | |
2 | g.25161144_25161146delinsCTG | CA1239226922 | POMC | c.739_741delinsCAG (p.Gln247=) | |
2 | g.25161145del | CA43684317 | POMC | c.740del (p.Gln247ArgfsTer5) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.25161145T>A | CA346066145 | POMC | c.740A>T (p.Gln247Leu) | |
2 | g.25161145T>C | CA43684318 | POMC | c.740A>G (p.Gln247Arg) | dbSNP gnomAD v4 |
2 | g.25161145T>G | CA346066144 | POMC | c.740A>C (p.Gln247Pro) | |
2 | g.25161145T= | CA1239226930 | POMC | c.740A= (p.Gln247=) | |
2 | g.25161145_25161146del | CA1239226926 | POMC | c.739_740del (p.Gln247AspfsTer?) | dbSNP |
2 | g.25161146G>A | CA346066146 | POMC | c.739C>T (p.Gln247Ter) c.739C>T | |
2 | g.25161146G>C | CA346066147 | POMC | c.739C>G (p.Gln247Glu) c.739C>G | |
2 | g.25161146G>T | CA346066148 | POMC | c.739C>A (p.Gln247Lys) c.739C>A | |
2 | g.25161147G>A | CA425352960 | POMC | c.738C>T (p.Ser246=) | |
2 | g.25161147G>C | CA346066149 | POMC | c.738C>G (p.Ser246Arg) | gnomAD v4 |
2 | g.25161147G>T | CA346066150 | POMC | c.738C>A (p.Ser246Arg) | gnomAD v4 |
2 | g.25161148C>A | CA346066151 | POMC | c.737G>T (p.Ser246Ile) | |
2 | g.25161148C>G | CA346066152 | POMC | c.737G>C (p.Ser246Thr) | |
2 | g.25161148C>T | CA346066153 | POMC | c.737G>A (p.Ser246Asn) | |
2 | g.25161149T>A | CA346066154 | POMC | c.736A>T (p.Ser246Cys) | |
2 | g.25161149T>C | CA346066155 | POMC | c.736A>G (p.Ser246Gly) | dbSNP |
2 | g.25161149T>G | CA346066156 | POMC | c.736A>C (p.Ser246Arg) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.25161149T= | CA1239226933 | POMC | c.736A= (p.Ser246=) | |
2 | g.25161150C>A | CA346066157 | POMC | c.735G>T (p.Lys245Asn) | |
2 | g.25161150C= | CA1239226937 | POMC | c.735G= (p.Lys245=) | |
2 | g.25161150C>G | CA346066158 | POMC | c.735G>C (p.Lys245Asn) | |
2 | g.25161150C>T | CA425352969 | POMC | c.735G>A (p.Lys245=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.25161151T>A | CA346066161 | POMC | c.734A>T (p.Lys245Met) | |
2 | g.25161151T>C | CA346066159 | POMC | c.734A>G (p.Lys245Arg) | gnomAD v4 |
2 | g.25161151T>G | CA346066160 | POMC | c.734A>C (p.Lys245Thr) | |
2 | g.25161152T>A | CA346066162 | POMC | c.733A>T (p.Lys245Ter) | |
2 | g.25161152T>C | CA346066163 | POMC | c.733A>G (p.Lys245Glu) | |
2 | g.25161152T>G | CA346066164 | POMC | c.733A>C (p.Lys245Gln) | |
2 | g.25161153C>A | CA346066165 | POMC | c.732G>T (p.Glu244Asp) | |
2 | g.25161153C= | CA1239226941 | POMC | c.732G= (p.Glu244=) | |
2 | g.25161153C>G | CA346066166 | POMC | c.732G>C (p.Glu244Asp) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.25161153C>T | CA425352974 | POMC | c.732G>A (p.Glu244=) | |
2 | g.25161154T>A | CA346066167 | POMC | c.731A>T (p.Glu244Val) | |
2 | g.25161154T>C | CA346066168 | POMC | c.731A>G (p.Glu244Gly) | |
2 | g.25161154T>G | CA346066169 | POMC | c.731A>C (p.Glu244Ala) | |
2 | g.25161155C>A | CA346066170 | POMC | c.730G>T (p.Glu244Ter) | gnomAD v4 |
2 | g.25161155C= | CA1239226947 | POMC | c.730G= (p.Glu244=) | |
2 | g.25161155C>G | CA346066171 | POMC | c.730G>C (p.Glu244Gln) | ClinVar dbSNP gnomAD v4 |
2 | g.25161155C>T | CA346066172 | POMC | c.730G>A (p.Glu244Lys) | |
2 | g.25161156G>A | CA1555227 | POMC | c.729C>T (p.Ser243=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161156G>C | CA425352986 | POMC | c.729C>G (p.Ser243=) | dbSNP |
2 | g.25161156G= | CA1239226955 | POMC | c.729C= (p.Ser243=) | |
2 | g.25161156G>T | CA425352983 | POMC | c.729C>A (p.Ser243=) | |
2 | g.25161157dup | CA531760828 | POMC | c.729dup (p.Glu244ArgfsTer?) | dbSNP gnomAD v2 |
2 | g.25161157G>A | CA346066174 | POMC | c.728C>T (p.Ser243Phe) | gnomAD v4 |
2 | g.25161157G>C | CA346066175 | POMC | c.728C>G (p.Ser243Cys) | |
2 | g.25161157G>T | CA346066173 | POMC | c.728C>A (p.Ser243Tyr) | |
2 | g.25161158A>C | CA346066177 | POMC | c.727T>G (p.Ser243Ala) | |
2 | g.25161158A>G | CA346066176 | POMC | c.727T>C (p.Ser243Pro) | gnomAD v4 |
2 | g.25161158A>T | CA346066178 | POMC | c.727T>A (p.Ser243Thr) | gnomAD v4 |
2 | g.25161158_25161159delinsAG | CA1239226957 | POMC | c.726_727delinsCT (p.Thr242=) | |
2 | g.25161159G>A | CA425352992 | POMC | c.726C>T (p.Thr242=) | |
2 | g.25161159G>C | CA425352995 | POMC | c.726C>G (p.Thr242=) | |
2 | g.25161159G>T | CA425352993 | POMC | c.726C>A (p.Thr242=) | |
2 | g.25161160del | CA1555228 | POMC | c.726del (p.Ser243ProfsTer9) c.726del (p.Ser243ProfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161160G>A | CA346066179 | POMC | c.725C>T (p.Thr242Ile) | gnomAD v4 |
2 | g.25161160G>C | CA346066180 | POMC | c.725C>G (p.Thr242Ser) | |
2 | g.25161160G>T | CA346066181 | POMC | c.725C>A (p.Thr242Asn) | gnomAD v4 |
2 | g.25161161T>A | CA346066182 | POMC | c.724A>T (p.Thr242Ser) | |
2 | g.25161161T>C | CA346066183 | POMC | c.724A>G (p.Thr242Ala) | gnomAD v4 |
2 | g.25161161T>G | CA346066184 | POMC | c.724A>C (p.Thr242Pro) | |
2 | g.25161162del | CA2658163188 | POMC | c.723del (p.Met241IlefsTer11) c.723del (p.Met241IlefsTer?) | gnomAD v4 |
2 | g.25161162C>A | CA346066185 | POMC | c.723G>T (p.Met241Ile) | |
2 | g.25161162C>G | CA346066186 | POMC | c.723G>C (p.Met241Ile) | gnomAD v4 |
2 | g.25161162C>T | CA346066187 | POMC | c.723G>A (p.Met241Ile) | |
2 | g.25161163A= | CA1239226962 | POMC | c.722T= (p.Met241=) | |
2 | g.25161163A>C | CA346066188 | POMC | c.722T>G (p.Met241Arg) | |
2 | g.25161163A>G | CA1555229 | POMC | c.722T>C (p.Met241Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161163A>T | CA346066189 | POMC | c.722T>A (p.Met241Lys) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.25161164T>A | CA346066190 | POMC | c.721A>T (p.Met241Leu) | |
2 | g.25161164T>C | CA346066191 | POMC | c.721A>G (p.Met241Val) | gnomAD v4 |
2 | g.25161164T>G | CA346066192 | POMC | c.721A>C (p.Met241Leu) | |
2 | g.25161165G>A | CA425353000 | POMC | c.720C>T (p.Phe240=) | dbSNP gnomAD v2 |
2 | g.25161165G>C | CA346066193 | POMC | c.720C>G (p.Phe240Leu) | |
2 | g.25161165G= | CA1239226965 | POMC | c.720C= (p.Phe240=) | |
2 | g.25161165G>T | CA346066194 | POMC | c.720C>A (p.Phe240Leu) | |
2 | g.25161166_25161171dup | CA2658163189 | POMC | c.715_720dup (p.Phe240_Met241insGlyPhe) | gnomAD v4 |
2 | g.25161166A>C | CA346066195 | POMC | c.719T>G (p.Phe240Cys) | |
2 | g.25161166A>G | CA346066196 | POMC | c.719T>C (p.Phe240Ser) | |
2 | g.25161166A>T | CA346066197 | POMC | c.719T>A (p.Phe240Tyr) | |
2 | g.25161168dup | CA1239226968 | POMC | c.719dup (p.Met241HisfsTer?) | dbSNP gnomAD v4 |
2 | g.25161167A>C | CA346066198 | POMC | c.718T>G (p.Phe240Val) | |
2 | g.25161167A>G | CA346066199 | POMC | c.718T>C (p.Phe240Leu) | |
2 | g.25161167A>T | CA346066200 | POMC | c.718T>A (p.Phe240Ile) | |
2 | g.25161168A= | CA1239226971 | POMC | c.717T= (p.Gly239=) | |
2 | g.25161168A>C | CA1555230 | POMC | c.717T>G (p.Gly239=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25161168A>G | CA425353007 | POMC | c.717T>C (p.Gly239=) | |
2 | g.25161168A>T | CA425353008 | POMC | c.717T>A (p.Gly239=) | |
2 | g.25161169C>A | CA346066201 | POMC | c.716G>T (p.Gly239Val) | |
2 | g.25161169C= | CA1239226975 | POMC | c.716G= (p.Gly239=) | |
2 | g.25161169C>G | CA346066202 | POMC | c.716G>C (p.Gly239Ala) | |
2 | g.25161169C>T | CA346066203 | POMC | c.716G>A (p.Gly239Asp) | ClinVar dbSNP gnomAD v4 |
2 | g.25161170C>A | CA346066204 | POMC | c.715G>T (p.Gly239Cys) | |
2 | g.25161170C= | CA1239226979 | POMC | c.715G= (p.Gly239=) | |
2 | g.25161170C>G | CA346066205 | POMC | c.715G>C (p.Gly239Arg) | dbSNP |
2 | g.25161170C>T | CA346066206 | POMC | c.715G>A (p.Gly239Ser) | dbSNP gnomAD v2 |
2 | g.25161173_25161180del | CA2658163190 | POMC | c.708_715del (p.Tyr237PhefsTer?) | gnomAD v4 |
2 | g.25161171G>A | CA425353013 | POMC | c.714C>T (p.Gly238=) | |
2 | g.25161171G>C | CA425353014 | POMC | c.714C>G (p.Gly238=) | |
2 | g.25161171G>T | CA425353016 | POMC | c.714C>A (p.Gly238=) | |
2 | g.25161172C>A | CA346066207 | POMC | c.713G>T (p.Gly238Val) | |
2 | g.25161172C>G | CA346066209 | POMC | c.713G>C (p.Gly238Ala) | |
2 | g.25161172C>T | CA346066208 | POMC | c.713G>A (p.Gly238Asp) | |
2 | g.25161173C>A | CA346066210 | POMC | c.712G>T (p.Gly238Cys) | |
2 | g.25161173C= | CA1239226982 | POMC | c.712G= (p.Gly238=) | |
2 | g.25161173C>G | CA346066211 | POMC | c.712G>C (p.Gly238Arg) | |
2 | g.25161173C>T | CA346066212 | POMC | c.712G>A (p.Gly238Ser) | dbSNP gnomAD v2 COSMIC |
2 | g.25161174G>A | CA425353029 | POMC | c.711C>T (p.Tyr237=) | dbSNP gnomAD v4 |
2 | g.25161174G>C | CA346066213 | POMC | c.711C>G (p.Tyr237Ter) | gnomAD v4 |
2 | g.25161174G= | CA1239226986 | POMC | c.711C= (p.Tyr237=) | |
2 | g.25161174G>T | CA346066214 | POMC | c.711C>A (p.Tyr237Ter) | |
2 | g.25161175T>A | CA346066216 | POMC | c.710A>T (p.Tyr237Phe) | |
2 | g.25161175T>C | CA1555231 | POMC | c.710A>G (p.Tyr237Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25161175T>G | CA346066215 | POMC | c.710A>C (p.Tyr237Ser) | |
2 | g.25161175T= | CA1239226989 | POMC | c.710A= (p.Tyr237=) | |
2 | g.25161176A= | CA1239226993 | POMC | c.709T= (p.Tyr237=) | |
2 | g.25161176A>C | CA346066217 | POMC | c.709T>G (p.Tyr237Asp) | |
2 | g.25161176A>G | CA346066218 | POMC | c.709T>C (p.Tyr237His) | gnomAD v4 |
2 | g.25161176A>T | CA1555232 | POMC | c.709T>A (p.Tyr237Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161177G>A | CA425353039 | POMC | c.708C>T (p.Arg236=) | gnomAD v4 |
2 | g.25161177G>C | CA425353038 | POMC | c.708C>G (p.Arg236=) | |
2 | g.25161177G>T | CA425353037 | POMC | c.708C>A (p.Arg236=) | |
2 | g.25161178C>A | CA346066219 | POMC | c.707G>T (p.Arg236Leu) | |
2 | g.25161178C= | CA1239226996 | POMC | c.707G= (p.Arg236=) | |
2 | g.25161178C>G | CA346066220 | POMC | c.707G>C (p.Arg236Pro) | |
2 | g.25161178C>T | CA346066221 | POMC | c.707G>A (p.Arg236His) | dbSNP |
2 | g.25161179_25161200dup | CA2658163191 | POMC | c.686_707dup (p.Tyr237GlnfsTer?) | gnomAD v4 |
2 | g.25161179G>A | CA346066222 | POMC | c.706C>T (p.Arg236Cys) | gnomAD v4 |
2 | g.25161179G>C | CA123053 | POMC | c.706C>G (p.Arg236Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161179G= | CA1239227000 | POMC | c.706C= (p.Arg236=) | |
2 | g.25161179G>T | CA346066223 | POMC | c.706C>A (p.Arg236Ser) | gnomAD v4 |
2 | g.25161180C>A | CA346066224 | POMC | c.705G>T (p.Lys235Asn) | |
2 | g.25161180C= | CA1239227005 | POMC | c.705G= (p.Lys235=) | |
2 | g.25161180C>G | CA346066225 | POMC | c.705G>C (p.Lys235Asn) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.25161180C>T | CA425353045 | POMC | c.705G>A (p.Lys235=) | |
2 | g.25161181T>A | CA346066226 | POMC | c.704A>T (p.Lys235Met) | |
2 | g.25161181T>C | CA346066227 | POMC | c.704A>G (p.Lys235Arg) | |
2 | g.25161181T>G | CA346066228 | POMC | c.704A>C (p.Lys235Thr) | |
2 | g.25161182T>A | CA346066229 | POMC | c.703A>T (p.Lys235Ter) | |
2 | g.25161182T>C | CA346066230 | POMC | c.703A>G (p.Lys235Glu) | gnomAD v4 |
2 | g.25161182T>G | CA346066231 | POMC | c.703A>C (p.Lys235Gln) | |
2 | g.25161183G>A | CA425353050 | POMC | c.702C>T (p.Asp234=) | |
2 | g.25161183G>C | CA346066232 | POMC | c.702C>G (p.Asp234Glu) | gnomAD v4 |
2 | g.25161183G>T | CA346066233 | POMC | c.702C>A (p.Asp234Glu) | |
2 | g.25161184T>A | CA346066236 | POMC | c.701A>T (p.Asp234Val) | |
2 | g.25161184T>C | CA346066234 | POMC | c.701A>G (p.Asp234Gly) | |
2 | g.25161184T>G | CA346066235 | POMC | c.701A>C (p.Asp234Ala) | |
2 | g.25161185C>A | CA346066237 | POMC | c.700G>T (p.Asp234Tyr) | |
2 | g.25161185C>G | CA346066239 | POMC | c.700G>C (p.Asp234His) | |
2 | g.25161185C>T | CA346066238 | POMC | c.700G>A (p.Asp234Asn) | COSMIC |
2 | g.25161186C>A | CA346066240 | POMC | c.699G>T (p.Lys233Asn) | |
2 | g.25161186C= | CA1239227008 | POMC | c.699G= (p.Lys233=) | |
2 | g.25161186C>G | CA346066241 | POMC | c.699G>C (p.Lys233Asn) | |
2 | g.25161186C>T | CA425353064 | POMC | c.699G>A (p.Lys233=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.25161187T>A | CA346066242 | POMC | c.698A>T (p.Lys233Met) | |
2 | g.25161187T>C | CA346066243 | POMC | c.698A>G (p.Lys233Arg) | gnomAD v4 |
2 | g.25161187T>G | CA346066244 | POMC | c.698A>C (p.Lys233Thr) | |
2 | g.25161188T>A | CA346066245 | POMC | c.697A>T (p.Lys233Ter) | |
2 | g.25161188T>C | CA346066246 | POMC | c.697A>G (p.Lys233Glu) | dbSNP |
2 | g.25161188T>G | CA346066247 | POMC | c.697A>C (p.Lys233Gln) | gnomAD v4 |
2 | g.25161188T= | CA1239227012 | POMC | c.697A= (p.Lys233=) | |
2 | g.25161188_25161189delinsTG | CA1239227011 | POMC | c.696_697delinsCA (p.Pro232=) | |
2 | g.25161189G>A | CA43684337 | POMC | c.696C>T (p.Pro232=) | dbSNP gnomAD v4 |
2 | g.25161189G>C | CA425353072 | POMC | c.696C>G (p.Pro232=) | |
2 | g.25161189G= | CA1239227018 | POMC | c.696C= (p.Pro232=) | |
2 | g.25161189G>T | CA425353071 | POMC | c.696C>A (p.Pro232=) | |
2 | g.25161191dup | CA767172709 | POMC | c.696dup (p.Lys233GlnfsTer?) | dbSNP |
2 | g.25161191del | CA346066248 | POMC | c.696del (p.Lys233ArgfsTer9) | dbSNP |
2 | g.25161190G>A | CA346066249 | POMC | c.695C>T (p.Pro232Leu) | |
2 | g.25161190G>C | CA346066250 | POMC | c.695C>G (p.Pro232Arg) | |
2 | g.25161190G>T | CA346066251 | POMC | c.695C>A (p.Pro232His) | |
2 | g.25161191G>A | CA346066252 | POMC | c.694C>T (p.Pro232Ser) | gnomAD v4 |
2 | g.25161191G>C | CA346066254 | POMC | c.694C>G (p.Pro232Ala) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.25161191G= | CA1239227020 | POMC | c.694C= (p.Pro232=) | |
2 | g.25161191G>T | CA346066253 | POMC | c.694C>A (p.Pro232Thr) | |
2 | g.25161192C>A | CA425353081 | POMC | c.693G>T (p.Pro231=) | |
2 | g.25161192C= | CA1239227022 | POMC | c.693G= (p.Pro231=) | |
2 | g.25161192C>G | CA425353083 | POMC | c.693G>C (p.Pro231=) | dbSNP |
2 | g.25161192C>T | CA1555233 | POMC | c.693G>A (p.Pro231=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.25161193G>A | CA1555234 | POMC | c.692C>T (p.Pro231Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.25161193G>C | CA346066255 | POMC | c.692C>G (p.Pro231Arg) | |
2 | g.25161193G= | CA1239227025 | POMC | c.692C= (p.Pro231=) | |
2 | g.25161193G>T | CA346066256 | POMC | c.692C>A (p.Pro231Gln) | gnomAD v4 |
2 | g.25161194G>A | CA346066257 | POMC | c.691C>T (p.Pro231Ser) | |
2 | g.25161194G>C | CA346066258 | POMC | c.691C>G (p.Pro231Ala) | |
2 | g.25161194G>T | CA346066259 | POMC | c.691C>A (p.Pro231Thr) | |
2 | g.25161195G>A | CA1555235 | POMC | c.690C>T (p.Ser230=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25161195G>C | CA346066260 | POMC | c.690C>G (p.Ser230Arg) | gnomAD v4 |
2 | g.25161195G= | CA1239227028 | POMC | c.690C= (p.Ser230=) | |
2 | g.25161195G>T | CA346066261 | POMC | c.690C>A (p.Ser230Arg) | |
2 | g.25161196C>A | CA346066264 | POMC | c.689G>T (p.Ser230Ile) | |
2 | g.25161196C>G | CA346066263 | POMC | c.689G>C (p.Ser230Thr) | |
2 | g.25161196C>T | CA346066262 | POMC | c.689G>A (p.Ser230Asn) | |
2 | g.25161197T>A | CA346066267 | POMC | c.688A>T (p.Ser230Cys) | |
2 | g.25161197T>C | CA346066265 | POMC | c.688A>G (p.Ser230Gly) | |
2 | g.25161197T>G | CA346066266 | POMC | c.688A>C (p.Ser230Arg) |