Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
2 | g.25161198G>A | CA425353108 | POMC | c.687C>T (p.Gly229=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.25161198G>C | CA425353104 | POMC | c.687C>G (p.Gly229=) | |
2 | g.25161198G= | CA1239227032 | POMC | c.687C= (p.Gly229=) | |
2 | g.25161198G>T | CA425353107 | POMC | c.687C>A (p.Gly229=) | gnomAD v4 |
2 | g.25161199C>A | CA346066268 | POMC | c.686G>T (p.Gly229Val) | |
2 | g.25161199C>G | CA346066269 | POMC | c.686G>C (p.Gly229Ala) | |
2 | g.25161199C>T | CA346066270 | POMC | c.686G>A (p.Gly229Asp) | gnomAD v4 |
2 | g.25161200C>A | CA346066272 | POMC | c.685G>T (p.Gly229Cys) | |
2 | g.25161200C= | CA1239227035 | POMC | c.685G= (p.Gly229=) | |
2 | g.25161200C>G | CA346066271 | POMC | c.685G>C (p.Gly229Arg) | |
2 | g.25161200C>T | CA1555236 | POMC | c.685G>A (p.Gly229Ser) | dbSNP ExAC |
2 | g.25161201C>A | CA346066273 | POMC | c.684G>T (p.Trp228Cys) | COSMIC |
2 | g.25161201C= | CA1239227037 | POMC | c.684G= (p.Trp228=) | |
2 | g.25161201C>G | CA346066274 | POMC | c.684G>C (p.Trp228Cys) | |
2 | g.25161201C>T | CA346066275 | POMC | c.684G>A (p.Trp228Ter) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.25161202C>A | CA346066276 | POMC | c.683G>T (p.Trp228Leu) | COSMIC |
2 | g.25161202C= | CA1239227039 | POMC | c.683G= (p.Trp228=) | |
2 | g.25161202C>G | CA1555237 | POMC | c.683G>C (p.Trp228Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161202C>T | CA346066277 | POMC | c.683G>A (p.Trp228Ter) | |
2 | g.25161203A= | CA1239227042 | POMC | c.682T= (p.Trp228=) | |
2 | g.25161203A>C | CA43684359 | POMC | c.682T>G (p.Trp228Gly) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.25161203A>G | CA346066279 | POMC | c.682T>C (p.Trp228Arg) | gnomAD v4 |
2 | g.25161203A>T | CA346066278 | POMC | c.682T>A (p.Trp228Arg) | |
2 | g.25161204G>A | CA425353143 | POMC | c.681C>T (p.Arg227=) | |
2 | g.25161204G>C | CA425353134 | POMC | c.681C>G (p.Arg227=) | |
2 | g.25161204G>T | CA425353139 | POMC | c.681C>A (p.Arg227=) | gnomAD v4 |
2 | g.25161205C>A | CA346066280 | POMC | c.680G>T (p.Arg227Leu) | gnomAD v4 |
2 | g.25161205C= | CA1239227047 | POMC | c.680G= (p.Arg227=) | |
2 | g.25161205C>G | CA346066281 | POMC | c.680G>C (p.Arg227Pro) | |
2 | g.25161205C>T | CA346066282 | POMC | c.680G>A (p.Arg227His) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
2 | g.25161205_25161206delinsCG | CA1239227048 | POMC | c.679_680delinsCG (p.Arg227=) | |
2 | g.25161206G>A | CA346066283 | POMC | c.679C>T (p.Arg227Cys) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.25161206G>C | CA346066284 | POMC | c.679C>G (p.Arg227Gly) | |
2 | g.25161206G= | CA1239227051 | POMC | c.679C= (p.Arg227=) | |
2 | g.25161206G>T | CA346066285 | POMC | c.679C>A (p.Arg227Ser) | |
2 | g.25161207del | CA531760829 | POMC | c.679del (p.Arg227AlafsTer15) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161207G>A | CA425353151 | POMC | c.678C>T (p.Phe226=) | gnomAD v4 |
2 | g.25161207G>C | CA346066286 | POMC | c.678C>G (p.Phe226Leu) | |
2 | g.25161207G= | CA1239227054 | POMC | c.678C= (p.Phe226=) | |
2 | g.25161207G>T | CA346066287 | POMC | c.678C>A (p.Phe226Leu) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.25161208A>C | CA346066288 | POMC | c.677T>G (p.Phe226Cys) | |
2 | g.25161208A>G | CA346066289 | POMC | c.677T>C (p.Phe226Ser) | |
2 | g.25161208A>T | CA346066290 | POMC | c.677T>A (p.Phe226Tyr) | |
2 | g.25161209A>C | CA346066292 | POMC | c.676T>G (p.Phe226Val) | |
2 | g.25161209A>G | CA346066293 | POMC | c.676T>C (p.Phe226Leu) | gnomAD v4 |
2 | g.25161209A>T | CA346066291 | POMC | c.676T>A (p.Phe226Ile) | gnomAD v4 |
2 | g.25161210G>A | CA425353158 | POMC | c.675C>T (p.His225=) | dbSNP gnomAD v4 |
2 | g.25161210G>C | CA1555238 | POMC | c.675C>G (p.His225Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25161210G= | CA1239227056 | POMC | c.675C= (p.His225=) | |
2 | g.25161210G>T | CA346066294 | POMC | c.675C>A (p.His225Gln) | |
2 | g.25161211T>A | CA346066295 | POMC | c.674A>T (p.His225Leu) | |
2 | g.25161211T>C | CA346066296 | POMC | c.674A>G (p.His225Arg) | |
2 | g.25161211T>G | CA1555239 | POMC | c.674A>C (p.His225Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25161211T= | CA1239227062 | POMC | c.674A= (p.His225=) | |
2 | g.25161212G>A | CA346066297 | POMC | c.673C>T (p.His225Tyr) | dbSNP gnomAD v2 |
2 | g.25161212G>C | CA346066298 | POMC | c.673C>G (p.His225Asp) | |
2 | g.25161212G= | CA1239227065 | POMC | c.673C= (p.His225=) | |
2 | g.25161212G>T | CA346066299 | POMC | c.673C>A (p.His225Asn) | |
2 | g.25161213C>A | CA346066301 | POMC | c.672G>T (p.Glu224Asp) | |
2 | g.25161213C>G | CA346066300 | POMC | c.672G>C (p.Glu224Asp) | |
2 | g.25161213C>T | CA425353174 | POMC | c.672G>A (p.Glu224=) | |
2 | g.25161214T>A | CA346066302 | POMC | c.671A>T (p.Glu224Val) | |
2 | g.25161214T>C | CA346066303 | POMC | c.671A>G (p.Glu224Gly) | gnomAD v4 |
2 | g.25161214T>G | CA346066304 | POMC | c.671A>C (p.Glu224Ala) | |
2 | g.25161215C>A | CA346066305 | POMC | c.670G>T (p.Glu224Ter) | |
2 | g.25161215C>G | CA346066306 | POMC | c.670G>C (p.Glu224Gln) | |
2 | g.25161215C>T | CA346066307 | POMC | c.670G>A (p.Glu224Lys) | COSMIC |
2 | g.25161216C>A | CA346066308 | POMC | c.669G>T (p.Met223Ile) | |
2 | g.25161216C= | CA1239227068 | POMC | c.669G= (p.Met223=) | |
2 | g.25161216C>G | CA346066310 | POMC | c.669G>C (p.Met223Ile) | |
2 | g.25161216C>T | CA346066309 | POMC | c.669G>A (p.Met223Ile) | dbSNP gnomAD v2 |
2 | g.25161217A= | CA1239227074 | POMC | c.668T= (p.Met223=) | |
2 | g.25161217A>C | CA346066311 | POMC | c.668T>G (p.Met223Arg) | |
2 | g.25161217A>G | CA1555240 | POMC | c.668T>C (p.Met223Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161217A>T | CA346066312 | POMC | c.668T>A (p.Met223Lys) | |
2 | g.25161218T>A | CA346066313 | POMC | c.667A>T (p.Met223Leu) | |
2 | g.25161218T>C | CA1555241 | POMC | c.667A>G (p.Met223Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25161218T>G | CA346066314 | POMC | c.667A>C (p.Met223Leu) | |
2 | g.25161218T= | CA1239227079 | POMC | c.667A= (p.Met223=) | |
2 | g.25161219C>A | CA346066315 | POMC | c.666G>T (p.Arg222Ser) | |
2 | g.25161219C>G | CA346066316 | POMC | c.666G>C (p.Arg222Ser) | gnomAD v3 gnomAD v4 |
2 | g.25161219C>T | CA425353335 | POMC | c.666G>A (p.Arg222=) | |
2 | g.25161220C>A | CA346066317 | POMC | c.665G>T (p.Arg222Met) | |
2 | g.25161220C= | CA1239227081 | POMC | c.665G= (p.Arg222=) | |
2 | g.25161220C>G | CA346066318 | POMC | c.665G>C (p.Arg222Thr) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.25161220C>T | CA346066319 | POMC | c.665G>A (p.Arg222Lys) | COSMIC |
2 | g.25161221T>A | CA346066321 | POMC | c.664A>T (p.Arg222Trp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161221T>C | CA346066320 | POMC | c.664A>G (p.Arg222Gly) | gnomAD v4 |
2 | g.25161221T>G | CA425353339 | POMC | c.664A>C (p.Arg222=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161221T= | CA1239227085 | POMC | c.664A= (p.Arg222=) | |
2 | g.25161222G>A | CA43684376 | POMC | c.663C>T (p.Tyr221=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161222G>C | CA346066322 | POMC | c.663C>G (p.Tyr221Ter) | gnomAD v4 |
2 | g.25161222G= | CA1239227087 | POMC | c.663C= (p.Tyr221=) | |
2 | g.25161222G>T | CA346066323 | POMC | c.663C>A (p.Tyr221Ter) | |
2 | g.25161223T>A | CA346066324 | POMC | c.662A>T (p.Tyr221Phe) | |
2 | g.25161223T>C | CA1555242 | POMC | c.662A>G (p.Tyr221Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161223T>G | CA346066325 | POMC | c.662A>C (p.Tyr221Ser) | |
2 | g.25161223T= | CA1239227094 | POMC | c.662A= (p.Tyr221=) | |
2 | g.25161224A= | CA1239227103 | POMC | c.661T= (p.Tyr221=) | |
2 | g.25161224A>C | CA346066326 | POMC | c.661T>G (p.Tyr221Asp) | |
2 | g.25161224A>G | CA346066327 | POMC | c.661T>C (p.Tyr221His) | gnomAD v4 |
2 | g.25161224A>T | CA346066328 | POMC | c.661T>A (p.Tyr221Asn) | |
2 | g.25161225G>A | CA425353346 | POMC | c.660C>T (p.Pro220=) | |
2 | g.25161225G>C | CA425353344 | POMC | c.660C>G (p.Pro220=) | |
2 | g.25161225G= | CA1239227107 | POMC | c.660C= (p.Pro220=) | |
2 | g.25161225G>T | CA1555243 | POMC | c.660C>A (p.Pro220=) | dbSNP ExAC gnomAD v2 |
2 | g.25161228dup | CA531760830 | POMC | c.660dup (p.Tyr221LeufsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161226G>A | CA346066329 | POMC | c.659C>T (p.Pro220Leu) | |
2 | g.25161226G>C | CA346066330 | POMC | c.659C>G (p.Pro220Arg) | gnomAD v4 |
2 | g.25161226G>T | CA346066331 | POMC | c.659C>A (p.Pro220His) | |
2 | g.25161226_25161227insA | CA1028505190 | POMC | c.658_659insT (p.Pro220LeufsTer?) | gnomAD v3 gnomAD v4 |
2 | g.25161226_25161227insAGCGCTTGCCCTCGCGCGGGCCCGGCTT | CA1028505192 | POMC | c.658_659insAAGCCGGGCCCGCGCGAGGGCAAGCGCT (p.Pro220GlnfsTer?) | gnomAD v3 gnomAD v4 |
2 | g.25161227G>A | CA346066334 | POMC | c.658C>T (p.Pro220Ser) | gnomAD v4 COSMIC |
2 | g.25161227G>C | CA346066333 | POMC | c.658C>G (p.Pro220Ala) | gnomAD v4 |
2 | g.25161227G>T | CA346066332 | POMC | c.658C>A (p.Pro220Thr) | gnomAD v4 |
2 | g.25161227_25161228insCGCTT | CA1028505194 | POMC | c.657_658insAAGCG (p.Pro220LysfsTer24) | gnomAD v3 gnomAD v4 |
2 | g.25161228G>A | CA1555244 | POMC | c.657C>T (p.Gly219=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25161228G>C | CA425353348 | POMC | c.657C>G (p.Gly219=) | |
2 | g.25161228G= | CA1239227110 | POMC | c.657C= (p.Gly219=) | |
2 | g.25161228G>T | CA425353349 | POMC | c.657C>A (p.Gly219=) | gnomAD v4 |
2 | g.25161229C>A | CA346066335 | POMC | c.656G>T (p.Gly219Val) | |
2 | g.25161229C= | CA1239227114 | POMC | c.656G= (p.Gly219=) | |
2 | g.25161229C>G | CA346066336 | POMC | c.656G>C (p.Gly219Ala) | |
2 | g.25161229C>T | CA1555245 | POMC | c.656G>A (p.Gly219Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25161230C>A | CA346066337 | POMC | c.655G>T (p.Gly219Cys) | |
2 | g.25161230C>G | CA346066338 | POMC | c.655G>C (p.Gly219Arg) | |
2 | g.25161230C>T | CA346066339 | POMC | c.655G>A (p.Gly219Ser) | gnomAD v4 |
2 | g.25161230_25161242delinsCCTCGTCCTTCTT | CA1239227117 | POMC | c.643_655delinsAAGAAGGACGAGG (p.Lys215=) | |
2 | g.25161231C>A | CA346066340 | POMC | c.654G>T (p.Glu218Asp) | |
2 | g.25161231C>G | CA346066341 | POMC | c.654G>C (p.Glu218Asp) | |
2 | g.25161231C>T | CA425353351 | POMC | c.654G>A (p.Glu218=) | |
2 | g.25161235_25161246del | CA1555246 | POMC | c.643_654del (p.Lys215_Glu218del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25161232T>A | CA346066342 | POMC | c.653A>T (p.Glu218Val) | |
2 | g.25161232T>C | CA346066343 | POMC | c.653A>G (p.Glu218Gly) | gnomAD v4 COSMIC |
2 | g.25161232T>G | CA346066344 | POMC | c.653A>C (p.Glu218Ala) | |
2 | g.25161233C>A | CA346066346 | POMC | c.652G>T (p.Glu218Ter) | dbSNP gnomAD v2 |
2 | g.25161233C= | CA1239227121 | POMC | c.652G= (p.Glu218=) | |
2 | g.25161233C>G | CA346066347 | POMC | c.652G>C (p.Glu218Gln) | |
2 | g.25161233C>T | CA346066345 | POMC | c.652G>A (p.Glu218Lys) | gnomAD v4 |
2 | g.25161234G>A | CA425353355 | POMC | c.651C>T (p.Asp217=) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
2 | g.25161234G>C | CA346066348 | POMC | c.651C>G (p.Asp217Glu) | gnomAD v4 |
2 | g.25161234G= | CA1239227123 | POMC | c.651C= (p.Asp217=) | |
2 | g.25161234G>T | CA346066349 | POMC | c.651C>A (p.Asp217Glu) | |
2 | g.25161235T>A | CA346066350 | POMC | c.650A>T (p.Asp217Val) | |
2 | g.25161235T>C | CA346066351 | POMC | c.650A>G (p.Asp217Gly) | |
2 | g.25161235T>G | CA346066352 | POMC | c.650A>C (p.Asp217Ala) | |
2 | g.25161236C>A | CA346066353 | POMC | c.649G>T (p.Asp217Tyr) | |
2 | g.25161236C>G | CA346066354 | POMC | c.649G>C (p.Asp217His) | |
2 | g.25161236C>T | CA346066355 | POMC | c.649G>A (p.Asp217Asn) | |
2 | g.25161236_25161239delinsCCTT | CA1239227126 | POMC | c.646_649delinsAAGG (p.Lys216=) | |
2 | g.25161237C>A | CA346066356 | POMC | c.648G>T (p.Lys216Asn) | |
2 | g.25161237C= | CA1239227132 | POMC | c.648G= (p.Lys216=) | |
2 | g.25161237C>G | CA346066357 | POMC | c.648G>C (p.Lys216Asn) | |
2 | g.25161237C>T | CA425353359 | POMC | c.648G>A (p.Lys216=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.25161242_25161244del | CA425353361 | POMC | c.646_648del (p.Lys216del) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.25161238T>A | CA346066358 | POMC | c.647A>T (p.Lys216Met) | |
2 | g.25161238T>C | CA346066359 | POMC | c.647A>G (p.Lys216Arg) | |
2 | g.25161238T>G | CA346066360 | POMC | c.647A>C (p.Lys216Thr) | |
2 | g.25161239T>A | CA346066362 | POMC | c.646A>T (p.Lys216Ter) | |
2 | g.25161239T>C | CA1555247 | POMC | c.646A>G (p.Lys216Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25161239T>G | CA346066361 | POMC | c.646A>C (p.Lys216Gln) | |
2 | g.25161239T= | CA1239227134 | POMC | c.646A= (p.Lys216=) | |
2 | g.25161240C>A | CA43684409 | POMC | c.645G>T (p.Lys215Asn) | dbSNP |
2 | g.25161240C= | CA1239227137 | POMC | c.645G= (p.Lys215=) | |
2 | g.25161240C>G | CA346066363 | POMC | c.645G>C (p.Lys215Asn) | |
2 | g.25161240C>T | CA425353368 | POMC | c.645G>A (p.Lys215=) | dbSNP gnomAD v2 |
2 | g.25161241T>A | CA346066364 | POMC | c.644A>T (p.Lys215Met) | |
2 | g.25161241T>C | CA346066365 | POMC | c.644A>G (p.Lys215Arg) | |
2 | g.25161241T>G | CA346066366 | POMC | c.644A>C (p.Lys215Thr) | |
2 | g.25161242T>A | CA346066367 | POMC | c.643A>T (p.Lys215Ter) | |
2 | g.25161242T>C | CA346066368 | POMC | c.643A>G (p.Lys215Glu) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.25161242T>G | CA346066369 | POMC | c.643A>C (p.Lys215Gln) | |
2 | g.25161242T= | CA1239227143 | POMC | c.643A= (p.Lys215=) | |
2 | g.25161242_25161245delinsTCTC | CA1239227142 | POMC | c.640_643delinsGAGA (p.Glu214=) |