2 | g.25161173_25161180del | CA2658163190 | POMC | c.708_715del (p.Tyr237PhefsTer?)
| gnomAD v4 |
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=)
| |
2 | g.25161243C>A | CA346066370 | POMC | c.642G>T (p.Glu214Asp)
| |
2 | g.25161243C= | CA1239227149 | POMC | c.642G= (p.Glu214=)
| |
2 | g.25161243C>G | CA346066371 | POMC | c.642G>C (p.Glu214Asp)
| |
2 | g.25161243C>T | CA425353374 | POMC | c.642G>A (p.Glu214=)
| ClinVar dbSNP |
2 | g.25161243_25161245del | CA1555248 | POMC | c.640_642del (p.Glu214del)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25161244T>A | CA346066373 | POMC | c.641A>T (p.Glu214Val)
| |
2 | g.25161244T>C | CA205065 | POMC | c.641A>G (p.Glu214Gly)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161244T>G | CA346066372 | POMC | c.641A>C (p.Glu214Ala)
| |
2 | g.25161244T= | CA1239227154 | POMC | c.641A= (p.Glu214=)
| |
2 | g.25161245C>A | CA346066374 | POMC | c.640G>T (p.Glu214Ter)
| |
2 | g.25161245C= | CA1239227158 | POMC | c.640G= (p.Glu214=)
| |
2 | g.25161245C>G | CA346066375 | POMC | c.640G>C (p.Glu214Gln)
| |
2 | g.25161245C>T | CA346066376 | POMC | c.640G>A (p.Glu214Lys)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161245dup | CA2840409592 | POMC | c.640dup (p.Glu214GlyfsTer?)
| |
2 | g.25161245_25161246insAGAA | CA1555249 | POMC | c.639_640insTTCT (p.Glu214PhefsTer2)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25161246G>A | CA425353382 | POMC | c.639C>T (p.Ala213=)
| dbSNP |
2 | g.25161246G>C | CA1555250 | POMC | c.639C>G (p.Ala213=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25161246G= | CA1239227168 | POMC | c.639C= (p.Ala213=)
| |
2 | g.25161246G>T | CA425353380 | POMC | c.639C>A (p.Ala213=)
| gnomAD v4 |
2 | g.25161247G>A | CA1555251 | POMC | c.638C>T (p.Ala213Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161247G>C | CA346066377 | POMC | c.638C>G (p.Ala213Gly)
| dbSNP |
2 | g.25161247G= | CA1239227175 | POMC | c.638C= (p.Ala213=)
| |
2 | g.25161247G>T | CA346066378 | POMC | c.638C>A (p.Ala213Asp)
| |
2 | g.25161248C>A | CA346066379 | POMC | c.637G>T (p.Ala213Ser)
| dbSNP gnomAD v4 |
2 | g.25161248C= | CA1239227182 | POMC | c.637G= (p.Ala213=)
| |
2 | g.25161248C>G | CA346066380 | POMC | c.637G>C (p.Ala213Pro)
| |
2 | g.25161248C>T | CA346066381 | POMC | c.637G>A (p.Ala213Thr)
| gnomAD v4 |
2 | g.25161249C>A | CA425353391 | POMC | c.636G>T (p.Ala212=)
| dbSNP |
2 | g.25161249C= | CA1239227185 | POMC | c.636G= (p.Ala212=)
| |
2 | g.25161249C>G | CA425353393 | POMC | c.636G>C (p.Ala212=)
| |
2 | g.25161249C>T | CA425353394 | POMC | c.636G>A (p.Ala212=)
| |
2 | g.25161250G>A | CA1555252 | POMC | c.635C>T (p.Ala212Val)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161250G>C | CA346066383 | POMC | c.635C>G (p.Ala212Gly)
| |
2 | g.25161250G= | CA1239227188 | POMC | c.635C= (p.Ala212=)
| |
2 | g.25161250G>T | CA346066382 | POMC | c.635C>A (p.Ala212Glu)
| COSMIC |
2 | g.25161251C>A | CA346066384 | POMC | c.634G>T (p.Ala212Ser)
| |
2 | g.25161251C>G | CA346066385 | POMC | c.634G>C (p.Ala212Pro)
| |
2 | g.25161251C>T | CA346066386 | POMC | c.634G>A (p.Ala212Thr)
| |
2 | g.25161252C>A | CA425353404 | POMC | c.633G>T (p.Val211=)
| COSMIC |
2 | g.25161252C>G | CA425353405 | POMC | c.633G>C (p.Val211=)
| |
2 | g.25161252C>T | CA425353407 | POMC | c.633G>A (p.Val211=)
| |
2 | g.25161253A= | CA1239227192 | POMC | c.632T= (p.Val211=)
| |
2 | g.25161253A>C | CA346066387 | POMC | c.632T>G (p.Val211Gly)
| dbSNP |
2 | g.25161253A>G | CA346066388 | POMC | c.632T>C (p.Val211Ala)
| |
2 | g.25161253A>T | CA346066389 | POMC | c.632T>A (p.Val211Glu)
| |
2 | g.25161254C>A | CA1555253 | POMC | c.631G>T (p.Val211Leu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25161254C= | CA1239227195 | POMC | c.631G= (p.Val211=)
| |
2 | g.25161254C>G | CA346066391 | POMC | c.631G>C (p.Val211Leu)
| |
2 | g.25161254C>T | CA346066390 | POMC | c.631G>A (p.Val211Met)
| |
2 | g.25161255C>A | CA425353417 | POMC | c.630G>T (p.Leu210=)
| |
2 | g.25161255C>G | CA425353416 | POMC | c.630G>C (p.Leu210=)
| |
2 | g.25161255C>T | CA425353414 | POMC | c.630G>A (p.Leu210=)
| |
2 | g.25161256A= | CA1239227201 | POMC | c.629T= (p.Leu210=)
| |
2 | g.25161256A>C | CA346066392 | POMC | c.629T>G (p.Leu210Arg)
| |
2 | g.25161256A>G | CA346066393 | POMC | c.629T>C (p.Leu210Pro)
| dbSNP gnomAD v4 |
2 | g.25161256A>T | CA346066394 | POMC | c.629T>A (p.Leu210Gln)
| |
2 | g.25161257G>A | CA425353418 | POMC | c.628C>T (p.Leu210=)
| |
2 | g.25161257G>C | CA346066395 | POMC | c.628C>G (p.Leu210Val)
| dbSNP |
2 | g.25161257G>T | CA346066396 | POMC | c.628C>A (p.Leu210Met)
| gnomAD v4 |
2 | g.25161258C>A | CA425353420 | POMC | c.627G>T (p.Leu209=)
| |
2 | g.25161258C>G | CA425353422 | POMC | c.627G>C (p.Leu209=)
| |
2 | g.25161258C>T | CA425353424 | POMC | c.627G>A (p.Leu209=)
| gnomAD v4 |
2 | g.25161259A= | CA1239227204 | POMC | c.626T= (p.Leu209=)
| |
2 | g.25161259A>C | CA346066398 | POMC | c.626T>G (p.Leu209Arg)
| |
2 | g.25161259A>G | CA1555254 | POMC | c.626T>C (p.Leu209Pro)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161259A>T | CA346066397 | POMC | c.626T>A (p.Leu209Gln)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.25161260G>A | CA425353429 | POMC | c.625C>T (p.Leu209=)
| gnomAD v4 |
2 | g.25161260G>C | CA346066400 | POMC | c.625C>G (p.Leu209Val)
| gnomAD v4 |
2 | g.25161260G>T | CA346066399 | POMC | c.625C>A (p.Leu209Met)
| gnomAD v4 |
2 | g.25161261G>A | CA425353434 | POMC | c.624C>T (p.Ser208=)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.25161261G>C | CA346066401 | POMC | c.624C>G (p.Ser208Arg)
| dbSNP |
2 | g.25161261G= | CA1239227211 | POMC | c.624C= (p.Ser208=)
| |
2 | g.25161261G>T | CA346066402 | POMC | c.624C>A (p.Ser208Arg)
| dbSNP gnomAD v4 |
2 | g.25161262C>A | CA346066403 | POMC | c.623G>T (p.Ser208Ile)
| |
2 | g.25161262C= | CA1239227213 | POMC | c.623G= (p.Ser208=)
| |
2 | g.25161262C>G | CA346066404 | POMC | c.623G>C (p.Ser208Thr)
| |
2 | g.25161262C>T | CA346066405 | POMC | c.623G>A (p.Ser208Asn)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.25161263T>A | CA346066408 | POMC | c.622A>T (p.Ser208Cys)
| |
2 | g.25161263T>C | CA346066407 | POMC | c.622A>G (p.Ser208Gly)
| |
2 | g.25161263T>G | CA346066406 | POMC | c.622A>C (p.Ser208Arg)
| |
2 | g.25161264G>A | CA425353439 | POMC | c.621C>T (p.His207=)
| gnomAD v4 |
2 | g.25161264G>C | CA1555255 | POMC | c.621C>G (p.His207Gln)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161264G= | CA1239227215 | POMC | c.621C= (p.His207=)
| |
2 | g.25161264G>T | CA346066409 | POMC | c.621C>A (p.His207Gln)
| |
2 | g.25161264_25161287delinsGTGCTCCAGGTCGGCCTGGGCCCC | CA1239227216 | POMC | c.598_621delinsGGGGCCCAGGCCGACCTGGAGCAC (p.Gly200=)
| |
2 | g.25161265T>A | CA346066410 | POMC | c.620A>T (p.His207Leu)
| gnomAD v4 |
2 | g.25161265T>C | CA346066411 | POMC | c.620A>G (p.His207Arg)
| |
2 | g.25161265T>G | CA346066412 | POMC | c.620A>C (p.His207Pro)
| |
2 | g.25161268_25161290del | CA1555256 | POMC | c.598_620del (p.Gly200GlnfsTer?)
| dbSNP ExAC gnomAD v4 |
2 | g.25161266G>A | CA346066413 | POMC | c.619C>T (p.His207Tyr)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.25161266G>C | CA346066415 | POMC | c.619C>G (p.His207Asp)
| |
2 | g.25161266G= | CA1239227222 | POMC | c.619C= (p.His207=)
| |
2 | g.25161266G>T | CA346066414 | POMC | c.619C>A (p.His207Asn)
| |
2 | g.25161267C>A | CA346066416 | POMC | c.618G>T (p.Glu206Asp)
| |
2 | g.25161267C= | CA1239227226 | POMC | c.618G= (p.Glu206=)
| |
2 | g.25161267C>G | CA346066417 | POMC | c.618G>C (p.Glu206Asp)
| |
2 | g.25161267C>T | CA1555257 | POMC | c.618G>A (p.Glu206=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25161268T>A | CA346066418 | POMC | c.617A>T (p.Glu206Val)
| |
2 | g.25161268T>C | CA346066419 | POMC | c.617A>G (p.Glu206Gly)
| |
2 | g.25161268T>G | CA346066420 | POMC | c.617A>C (p.Glu206Ala)
| |
2 | g.25161269C>A | CA1555258 | POMC | c.616G>T (p.Glu206Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161269C= | CA1239227234 | POMC | c.616G= (p.Glu206=)
| |
2 | g.25161269C>G | CA346066421 | POMC | c.616G>C (p.Glu206Gln)
| |
2 | g.25161269C>T | CA346066422 | POMC | c.616G>A (p.Glu206Lys)
| |
2 | g.25161269_25161280delinsACACGTCGGCCTGGGCCC | CA2586968730 | POMC | c.605_616delinsGGGCCCAGGCCGACGTGT (p.Gln202ArgfsTer7)
| |
2 | g.25161270C>A | CA425353459 | POMC | c.615G>T (p.Leu205=)
| |
2 | g.25161270C>G | CA425353462 | POMC | c.615G>C (p.Leu205=)
| |
2 | g.25161270C>T | CA425353463 | POMC | c.615G>A (p.Leu205=)
| gnomAD v4 |
2 | g.25161271A= | CA1239227239 | POMC | c.614T= (p.Leu205=)
| |
2 | g.25161271A>C | CA346066423 | POMC | c.614T>G (p.Leu205Arg)
| |
2 | g.25161271A>G | CA346066424 | POMC | c.614T>C (p.Leu205Pro)
| |
2 | g.25161271A>T | CA346066425 | POMC | c.614T>A (p.Leu205Gln)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.25161272G>A | CA425353464 | POMC | c.613C>T (p.Leu205=)
| |
2 | g.25161272G>C | CA346066426 | POMC | c.613C>G (p.Leu205Val)
| |
2 | g.25161272G>T | CA346066427 | POMC | c.613C>A (p.Leu205Met)
| |