18 | g.13884786A>C | CA401994175 | MC2R | c.733T>G (p.Cys245Gly)
| |
18 | g.13884786A>G | CA401994178 | MC2R | c.733T>C (p.Cys245Arg)
| |
18 | g.13884786A>T | CA401994176 | MC2R | c.733T>A (p.Cys245Ser)
| |
18 | g.13884787G>A | CA503248084 | MC2R | c.732C>T (p.Phe244=)
| |
18 | g.13884787G>C | CA401994180 | MC2R | c.732C>G (p.Phe244Leu)
| |
18 | g.13884787G>T | CA401994182 | MC2R | c.732C>A (p.Phe244Leu)
| COSMIC |
18 | g.13884788A>C | CA401994185 | MC2R | c.731T>G (p.Phe244Cys)
| |
18 | g.13884788A>G | CA401994186 | MC2R | c.731T>C (p.Phe244Ser)
| |
18 | g.13884788A>T | CA401994188 | MC2R | c.731T>A (p.Phe244Tyr)
| |
18 | g.13884789A>C | CA401994190 | MC2R | c.730T>G (p.Phe244Val)
| |
18 | g.13884789A>G | CA401994191 | MC2R | c.730T>C (p.Phe244Leu)
| |
18 | g.13884789A>T | CA401994193 | MC2R | c.730T>A (p.Phe244Ile)
| |
18 | g.13884790T>A | CA503248089 | MC2R | c.729A>T (p.Thr243=)
| |
18 | g.13884790T>C | CA503248088 | MC2R | c.729A>G (p.Thr243=)
| dbSNP |
18 | g.13884790T>G | CA503248087 | MC2R | c.729A>C (p.Thr243=)
| |
18 | g.13884790T= | CA2285919269 | MC2R | c.729A= (p.Thr243=)
| |
18 | g.13884791G>A | CA401994196 | MC2R | c.728C>T (p.Thr243Ile)
| dbSNP gnomAD v2 |
18 | g.13884791G>C | CA401994198 | MC2R | c.728C>G (p.Thr243Arg)
| |
18 | g.13884791G= | CA2285919270 | MC2R | c.728C= (p.Thr243=)
| |
18 | g.13884791G>T | CA296828625 | MC2R | c.728C>A (p.Thr243Lys)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.13884792T>A | CA401994201 | MC2R | c.727A>T (p.Thr243Ser)
| |
18 | g.13884792T>C | CA401994205 | MC2R | c.727A>G (p.Thr243Ala)
| |
18 | g.13884792T>G | CA401994203 | MC2R | c.727A>C (p.Thr243Pro)
| |
18 | g.13884795_13884797del | CA2641150776 | MC2R | c.725_727del (p.Met242del)
| gnomAD v4 |
18 | g.13884793C>A | CA401994207 | MC2R | c.726G>T (p.Met242Ile)
| |
18 | g.13884793C>G | CA401994211 | MC2R | c.726G>C (p.Met242Ile)
| gnomAD v4 |
18 | g.13884793C>T | CA401994209 | MC2R | c.726G>A (p.Met242Ile)
| COSMIC |
18 | g.13884794A>C | CA401994212 | MC2R | c.725T>G (p.Met242Arg)
| |
18 | g.13884794A>G | CA401994214 | MC2R | c.725T>C (p.Met242Thr)
| gnomAD v4 |
18 | g.13884794A>T | CA401994216 | MC2R | c.725T>A (p.Met242Lys)
| |
18 | g.13884795T>A | CA401994218 | MC2R | c.724A>T (p.Met242Leu)
| gnomAD v4 |
18 | g.13884795T>C | CA8902414 | MC2R | c.724A>G (p.Met242Val)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.13884795T>G | CA401994221 | MC2R | c.724A>C (p.Met242Leu)
| |
18 | g.13884795T= | CA2285919271 | MC2R | c.724A= (p.Met242=)
| |
18 | g.13884796C>A | CA401994222 | MC2R | c.723G>T (p.Leu241Phe)
| |
18 | g.13884796C= | CA2285919272 | MC2R | c.723G= (p.Leu241=)
| |
18 | g.13884796C>G | CA401994224 | MC2R | c.723G>C (p.Leu241Phe)
| dbSNP |
18 | g.13884796C>T | CA503248106 | MC2R | c.723G>A (p.Leu241=)
| dbSNP COSMIC |
18 | g.13884797A>C | CA401994226 | MC2R | c.722T>G (p.Leu241Trp)
| |
18 | g.13884797A>G | CA401994228 | MC2R | c.722T>C (p.Leu241Ser)
| |
18 | g.13884797A>T | CA401994230 | MC2R | c.722T>A (p.Leu241Ter)
| |
18 | g.13884798A= | CA2285919273 | MC2R | c.721T= (p.Leu241=)
| |
18 | g.13884798A>C | CA401994234 | MC2R | c.721T>G (p.Leu241Val)
| |
18 | g.13884798A>G | CA503248107 | MC2R | c.721T>C (p.Leu241=)
| dbSNP COSMIC |
18 | g.13884798A>T | CA401994232 | MC2R | c.721T>A (p.Leu241Met)
| |
18 | g.13884799G>A | CA503248109 | MC2R | c.720C>T (p.Leu240=)
| |
18 | g.13884799G>C | CA503248110 | MC2R | c.720C>G (p.Leu240=)
| |
18 | g.13884799G>T | CA503248112 | MC2R | c.720C>A (p.Leu240=)
| gnomAD v4 |
18 | g.13884800A>C | CA401994237 | MC2R | c.719T>G (p.Leu240Arg)
| |
18 | g.13884800A>G | CA401994239 | MC2R | c.719T>C (p.Leu240Pro)
| |
18 | g.13884800A>T | CA401994241 | MC2R | c.719T>A (p.Leu240His)
| |
18 | g.13884801G>A | CA8902415 | MC2R | c.718C>T (p.Leu240Phe)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.13884801G>C | CA401994244 | MC2R | c.718C>G (p.Leu240Val)
| |
18 | g.13884801G= | CA2285919274 | MC2R | c.718C= (p.Leu240=)
| |
18 | g.13884801G>T | CA401994246 | MC2R | c.718C>A (p.Leu240Ile)
| |
18 | g.13884802G>A | CA503248121 | MC2R | c.717C>T (p.Val239=)
| dbSNP gnomAD v4 |
18 | g.13884802G>C | CA503248122 | MC2R | c.717C>G (p.Val239=)
| |
18 | g.13884802G= | CA2285919275 | MC2R | c.717C= (p.Val239=)
| |
18 | g.13884802G>T | CA503248123 | MC2R | c.717C>A (p.Val239=)
| |
18 | g.13884803A>C | CA401994249 | MC2R | c.716T>G (p.Val239Gly)
| |
18 | g.13884803A>G | CA401994250 | MC2R | c.716T>C (p.Val239Ala)
| gnomAD v4 |
18 | g.13884803A>T | CA401994252 | MC2R | c.716T>A (p.Val239Asp)
| |
18 | g.13884804C>A | CA401994254 | MC2R | c.715G>T (p.Val239Phe)
| gnomAD v4 |
18 | g.13884804C= | CA2285919276 | MC2R | c.715G= (p.Val239=)
| |
18 | g.13884804C>G | CA401994256 | MC2R | c.715G>C (p.Val239Leu)
| |
18 | g.13884804C>T | CA8902416 | MC2R | c.715G>A (p.Val239Ile)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.13884805A= | CA2285919277 | MC2R | c.714T= (p.His238=)
| |
18 | g.13884805A>C | CA401994261 | MC2R | c.714T>G (p.His238Gln)
| COSMIC |
18 | g.13884805A>G | CA503248125 | MC2R | c.714T>C (p.His238=)
| dbSNP gnomAD v3 gnomAD v4 |
18 | g.13884805A>T | CA401994260 | MC2R | c.714T>A (p.His238Gln)
| |
18 | g.13884806T>A | CA401994264 | MC2R | c.713A>T (p.His238Leu)
| |
18 | g.13884806T>C | CA401994266 | MC2R | c.713A>G (p.His238Arg)
| |
18 | g.13884806T>G | CA401994267 | MC2R | c.713A>C (p.His238Pro)
| |
18 | g.13884807G>A | CA401994270 | MC2R | c.712C>T (p.His238Tyr)
| dbSNP COSMIC |
18 | g.13884807G>C | CA401994272 | MC2R | c.712C>G (p.His238Asp)
| |
18 | g.13884807G= | CA2285919278 | MC2R | c.712C= (p.His238=)
| |
18 | g.13884807G>T | CA401994273 | MC2R | c.712C>A (p.His238Asn)
| |
18 | g.13884808A= | CA2285919279 | MC2R | c.711T= (p.Leu237=)
| |
18 | g.13884808A>C | CA8902417 | MC2R | c.711T>G (p.Leu237=)
| dbSNP ExAC |
18 | g.13884808A>G | CA503248130 | MC2R | c.711T>C (p.Leu237=)
| |
18 | g.13884808A>T | CA503248131 | MC2R | c.711T>A (p.Leu237=)
| |
18 | g.13884809A>C | CA401994277 | MC2R | c.710T>G (p.Leu237Arg)
| |
18 | g.13884809A>G | CA401994279 | MC2R | c.710T>C (p.Leu237Pro)
| gnomAD v4 |
18 | g.13884809A>T | CA401994281 | MC2R | c.710T>A (p.Leu237His)
| |
18 | g.13884810G>A | CA401994283 | MC2R | c.709C>T (p.Leu237Phe)
| dbSNP gnomAD v2 gnomAD v4 |
18 | g.13884810G>C | CA401994284 | MC2R | c.709C>G (p.Leu237Val)
| |
18 | g.13884810G= | CA2285919280 | MC2R | c.709C= (p.Leu237=)
| |
18 | g.13884810G>T | CA401994286 | MC2R | c.709C>A (p.Leu237Ile)
| |
18 | g.13884811C>A | CA503248132 | MC2R | c.708G>T (p.Val236=)
| |
18 | g.13884811C>G | CA503248134 | MC2R | c.708G>C (p.Val236=)
| dbSNP gnomAD v4 |
18 | g.13884811C>T | CA503248136 | MC2R | c.708G>A (p.Val236=)
| |
18 | g.13884812A>C | CA401994290 | MC2R | c.707T>G (p.Val236Gly)
| |
18 | g.13884812A>G | CA401994288 | MC2R | c.707T>C (p.Val236Ala)
| |
18 | g.13884812A>T | CA401994289 | MC2R | c.707T>A (p.Val236Glu)
| |
18 | g.13884813C>A | CA401994292 | MC2R | c.706G>T (p.Val236Leu)
| dbSNP gnomAD v2 gnomAD v4 |
18 | g.13884813C= | CA2285919281 | MC2R | c.706G= (p.Val236=)
| |
18 | g.13884813C>G | CA401994294 | MC2R | c.706G>C (p.Val236Leu)
| |
18 | g.13884813C>T | CA401994295 | MC2R | c.706G>A (p.Val236Met)
| gnomAD v4 |
18 | g.13884814A= | CA2285919282 | MC2R | c.705T= (p.Phe235=)
| |
18 | g.13884814A>C | CA401994298 | MC2R | c.705T>G (p.Phe235Leu)
| dbSNP gnomAD v2 gnomAD v4 |
18 | g.13884814A>G | CA503248144 | MC2R | c.705T>C (p.Phe235=)
| dbSNP gnomAD v3 gnomAD v4 |
18 | g.13884814A>T | CA401994300 | MC2R | c.705T>A (p.Phe235Leu)
| |
18 | g.13884816dup | CA2841565746 | MC2R | c.705dup (p.Val236CysfsTer13)
| |
18 | g.13884815A>C | CA401994302 | MC2R | c.704T>G (p.Phe235Cys)
| |
18 | g.13884815A>G | CA401994304 | MC2R | c.704T>C (p.Phe235Ser)
| |
18 | g.13884815A>T | CA401994306 | MC2R | c.704T>A (p.Phe235Tyr)
| |
18 | g.13884816A>C | CA401994309 | MC2R | c.703T>G (p.Phe235Val)
| |
18 | g.13884816A>G | CA401994311 | MC2R | c.703T>C (p.Phe235Leu)
| |
18 | g.13884816A>T | CA401994313 | MC2R | c.703T>A (p.Phe235Ile)
| |
18 | g.13884816_13884817delinsAG | CA2285919283 | MC2R | c.702_703delinsCT (p.Pro234=)
| |
18 | g.13884817G>A | CA503248156 | MC2R | c.702C>T (p.Pro234=)
| gnomAD v4 |
18 | g.13884817G>C | CA503248153 | MC2R | c.702C>G (p.Pro234=)
| |
18 | g.13884817G>T | CA503248151 | MC2R | c.702C>A (p.Pro234=)
| |
18 | g.13884821dup | CA2811045715 | MC2R | c.702dup (p.Phe235LeufsTer14)
| |
18 | g.13884821del | CA658653848 | MC2R | c.702del (p.Phe235LeufsTer7)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
18 | g.13884818G>A | CA401994319 | MC2R | c.701C>T (p.Pro234Leu)
| |
18 | g.13884818G>C | CA401994317 | MC2R | c.701C>G (p.Pro234Arg)
| dbSNP gnomAD v2 gnomAD v4 |
18 | g.13884818G= | CA2285919284 | MC2R | c.701C= (p.Pro234=)
| |
18 | g.13884818G>T | CA401994315 | MC2R | c.701C>A (p.Pro234His)
| gnomAD v4 |
18 | g.13884819G>A | CA401994321 | MC2R | c.700C>T (p.Pro234Ser)
| gnomAD v4 |
18 | g.13884819G>C | CA401994323 | MC2R | c.700C>G (p.Pro234Ala)
| gnomAD v4 |
18 | g.13884819G>T | CA401994325 | MC2R | c.700C>A (p.Pro234Thr)
| |
18 | g.13884820G>A | CA503248160 | MC2R | c.699C>T (p.Ala233=)
| gnomAD v4 |
18 | g.13884820G>C | CA503248164 | MC2R | c.699C>G (p.Ala233=)
| |
18 | g.13884820G>T | CA503248165 | MC2R | c.699C>A (p.Ala233=)
| COSMIC |
18 | g.13884821G>A | CA8902418 | MC2R | c.698C>T (p.Ala233Val)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
18 | g.13884821G>C | CA401994328 | MC2R | c.698C>G (p.Ala233Gly)
| dbSNP gnomAD v4 |
18 | g.13884821G= | CA2285919285 | MC2R | c.698C= (p.Ala233=)
| |
18 | g.13884821G>T | CA401994330 | MC2R | c.698C>A (p.Ala233Asp)
| dbSNP gnomAD v2 gnomAD v4 |
18 | g.13884822C>A | CA401994334 | MC2R | c.697G>T (p.Ala233Ser)
| |
18 | g.13884822C= | CA2285919286 | MC2R | c.697G= (p.Ala233=)
| |
18 | g.13884822C>G | CA401994332 | MC2R | c.697G>C (p.Ala233Pro)
| dbSNP gnomAD v2 |
18 | g.13884822C>T | CA8902419 | MC2R | c.697G>A (p.Ala233Thr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.13884823C>A | CA401994337 | MC2R | c.696G>T (p.Trp232Cys)
| gnomAD v4 |
18 | g.13884823C>G | CA401994339 | MC2R | c.696G>C (p.Trp232Cys)
| |
18 | g.13884823C>T | CA401994340 | MC2R | c.696G>A (p.Trp232Ter)
| |
18 | g.13884824C>A | CA401994344 | MC2R | c.695G>T (p.Trp232Leu)
| |
18 | g.13884824C>G | CA401994345 | MC2R | c.695G>C (p.Trp232Ser)
| |
18 | g.13884824C>T | CA401994346 | MC2R | c.695G>A (p.Trp232Ter)
| |
18 | g.13884825A>C | CA401994351 | MC2R | c.694T>G (p.Trp232Gly)
| |
18 | g.13884825A>G | CA401994348 | MC2R | c.694T>C (p.Trp232Arg)
| |
18 | g.13884825A>T | CA401994350 | MC2R | c.694T>A (p.Trp232Arg)
| |
18 | g.13884826G>A | CA503248182 | MC2R | c.693C>T (p.Cys231=)
| gnomAD v4 |
18 | g.13884826G>C | CA401994354 | MC2R | c.693C>G (p.Cys231Trp)
| |
18 | g.13884826G>T | CA401994356 | MC2R | c.693C>A (p.Cys231Ter)
| |
18 | g.13884827C>A | CA401994359 | MC2R | c.692G>T (p.Cys231Phe)
| |
18 | g.13884827C>G | CA401994360 | MC2R | c.692G>C (p.Cys231Ser)
| gnomAD v4 |
18 | g.13884827C>T | CA401994362 | MC2R | c.692G>A (p.Cys231Tyr)
| |
18 | g.13884828A>C | CA401994364 | MC2R | c.691T>G (p.Cys231Gly)
| |
18 | g.13884828A>G | CA401994365 | MC2R | c.691T>C (p.Cys231Arg)
| |
18 | g.13884828A>T | CA401994366 | MC2R | c.691T>A (p.Cys231Ser)
| |
18 | g.13884829G>A | CA503248190 | MC2R | c.690C>T (p.Phe230=)
| COSMIC |
18 | g.13884829G>C | CA401994369 | MC2R | c.690C>G (p.Phe230Leu)
| |
18 | g.13884829G>T | CA401994370 | MC2R | c.690C>A (p.Phe230Leu)
| |
18 | g.13884830A= | CA2285919287 | MC2R | c.689T= (p.Phe230=)
| |
18 | g.13884830A>C | CA401994372 | MC2R | c.689T>G (p.Phe230Cys)
| dbSNP gnomAD v2 gnomAD v4 |
18 | g.13884830A>G | CA401994374 | MC2R | c.689T>C (p.Phe230Ser)
| |
18 | g.13884830A>T | CA401994376 | MC2R | c.689T>A (p.Phe230Tyr)
| |
18 | g.13884831A>C | CA401994378 | MC2R | c.688T>G (p.Phe230Val)
| |
18 | g.13884831A>G | CA401994382 | MC2R | c.688T>C (p.Phe230Leu)
| |
18 | g.13884831A>T | CA401994380 | MC2R | c.688T>A (p.Phe230Ile)
| |
18 | g.13884832_13884839dup | CA628623250 | MC2R | c.681_688dup (p.Phe230SerfsTer15)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
18 | g.13884832G>A | CA296828643 | MC2R | c.687C>T (p.Ile229=)
| dbSNP gnomAD v3 gnomAD v4 |
18 | g.13884832G>C | CA401994385 | MC2R | c.687C>G (p.Ile229Met)
| |
18 | g.13884832G= | CA2285919288 | MC2R | c.687C= (p.Ile229=)
| |
18 | g.13884832G>T | CA503248195 | MC2R | c.687C>A (p.Ile229=)
| |
18 | g.13884833A= | CA2285919289 | MC2R | c.686T= (p.Ile229=)
| |
18 | g.13884833A>C | CA401994387 | MC2R | c.686T>G (p.Ile229Ser)
| |
18 | g.13884833A>G | CA8902420 | MC2R | c.686T>C (p.Ile229Thr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.13884833A>T | CA401994391 | MC2R | c.686T>A (p.Ile229Asn)
| |
18 | g.13884834T>A | CA401994393 | MC2R | c.685A>T (p.Ile229Phe)
| |
18 | g.13884834T>C | CA401994395 | MC2R | c.685A>G (p.Ile229Val)
| |
18 | g.13884834T>G | CA401994397 | MC2R | c.685A>C (p.Ile229Leu)
| gnomAD v4 |
18 | g.13884835G>A | CA503248201 | MC2R | c.684C>T (p.Phe228=)
| |
18 | g.13884835G>C | CA401994399 | MC2R | c.684C>G (p.Phe228Leu)
| |
18 | g.13884835G>T | CA401994401 | MC2R | c.684C>A (p.Phe228Leu)
| |
18 | g.13884836A>C | CA401994404 | MC2R | c.683T>G (p.Phe228Cys)
| |
18 | g.13884836A>G | CA401994406 | MC2R | c.683T>C (p.Phe228Ser)
| |
18 | g.13884836A>T | CA401994407 | MC2R | c.683T>A (p.Phe228Tyr)
| |
18 | g.13884837A>C | CA401994412 | MC2R | c.682T>G (p.Phe228Val)
| |
18 | g.13884837A>G | CA401994410 | MC2R | c.682T>C (p.Phe228Leu)
| |
18 | g.13884837A>T | CA401994409 | MC2R | c.682T>A (p.Phe228Ile)
| |
18 | g.13884838G>A | CA503248209 | MC2R | c.681C>T (p.Val227=)
| |
18 | g.13884838G>C | CA503248207 | MC2R | c.681C>G (p.Val227=)
| dbSNP gnomAD v2 gnomAD v4 |
18 | g.13884838G= | CA2285919290 | MC2R | c.681C= (p.Val227=)
| |
18 | g.13884838G>T | CA503248208 | MC2R | c.681C>A (p.Val227=)
| |
18 | g.13884839A>C | CA401994415 | MC2R | c.680T>G (p.Val227Gly)
| |
18 | g.13884839A>G | CA401994417 | MC2R | c.680T>C (p.Val227Ala)
| |
18 | g.13884839A>T | CA401994418 | MC2R | c.680T>A (p.Val227Asp)
| |
18 | g.13884840C>A | CA8902421 | MC2R | c.679G>T (p.Val227Phe)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.13884840C= | CA2285919291 | MC2R | c.679G= (p.Val227=)
| |
18 | g.13884840C>G | CA8902422 | MC2R | c.679G>C (p.Val227Leu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.13884840C>T | CA401994423 | MC2R | c.679G>A (p.Val227Ile)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.13884841C>A | CA503248211 | MC2R | c.678G>T (p.Gly226=)
| |
18 | g.13884841C= | CA2285919292 | MC2R | c.678G= (p.Gly226=)
| |
18 | g.13884841C>G | CA503248212 | MC2R | c.678G>C (p.Gly226=)
| dbSNP gnomAD v4 |
18 | g.13884841C>T | CA503248214 | MC2R | c.678G>A (p.Gly226=)
| dbSNP gnomAD v2 gnomAD v4 |
18 | g.13884842C>A | CA401994425 | MC2R | c.677G>T (p.Gly226Val)
| COSMIC |
18 | g.13884842C>G | CA401994427 | MC2R | c.677G>C (p.Gly226Ala)
| |
18 | g.13884842C>T | CA401994428 | MC2R | c.677G>A (p.Gly226Glu)
| |
18 | g.13884843C>A | CA401994430 | MC2R | c.676G>T (p.Gly226Trp)
| |
18 | g.13884843C= | CA2285919293 | MC2R | c.676G= (p.Gly226=)
| |
18 | g.13884843C>G | CA401994431 | MC2R | c.676G>C (p.Gly226Arg)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
18 | g.13884843C>T | CA8902423 | MC2R | c.676G>A (p.Gly226Arg)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.13884844G>A | CA503248220 | MC2R | c.675C>T (p.Leu225=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.13884844G>C | CA503248219 | MC2R | c.675C>G (p.Leu225=)
| |
18 | g.13884844G= | CA2285919294 | MC2R | c.675C= (p.Leu225=)
| |
18 | g.13884844G>T | CA503248222 | MC2R | c.675C>A (p.Leu225=)
| gnomAD v4 |
18 | g.13884845A= | CA2285919295 | MC2R | c.674T= (p.Leu225=)
| |
18 | g.13884845A>C | CA401994434 | MC2R | c.674T>G (p.Leu225Arg)
| ClinVar dbSNP |
18 | g.13884845A>G | CA401994437 | MC2R | c.674T>C (p.Leu225Pro)
| |
18 | g.13884845A>T | CA401994435 | MC2R | c.674T>A (p.Leu225His)
| |
18 | g.13884846G>A | CA401994440 | MC2R | c.673C>T (p.Leu225Phe)
| gnomAD v4 |
18 | g.13884846G>C | CA401994444 | MC2R | c.673C>G (p.Leu225Val)
| |
18 | g.13884846G>T | CA401994442 | MC2R | c.673C>A (p.Leu225Ile)
| |
18 | g.13884847C>A | CA503248226 | MC2R | c.672G>T (p.Leu224=)
| gnomAD v4 |
18 | g.13884847C>G | CA503248227 | MC2R | c.672G>C (p.Leu224=)
| |
18 | g.13884847C>T | CA503248228 | MC2R | c.672G>A (p.Leu224=)
| |
18 | g.13884848A= | CA2285919296 | MC2R | c.671T= (p.Leu224=)
| |
18 | g.13884848A>C | CA401994446 | MC2R | c.671T>G (p.Leu224Arg)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.13884848A>G | CA401994448 | MC2R | c.671T>C (p.Leu224Pro)
| |
18 | g.13884848A>T | CA401994450 | MC2R | c.671T>A (p.Leu224Gln)
| COSMIC |
18 | g.13884849G>A | CA503248230 | MC2R | c.670C>T (p.Leu224=)
| |
18 | g.13884849G>C | CA401994452 | MC2R | c.670C>G (p.Leu224Val)
| |
18 | g.13884849G>T | CA401994454 | MC2R | c.670C>A (p.Leu224Met)
| COSMIC |
18 | g.13884850G>A | CA503248233 | MC2R | c.669C>T (p.Ile223=)
| |
18 | g.13884850G>C | CA401994456 | MC2R | c.669C>G (p.Ile223Met)
| |
18 | g.13884850G>T | CA503248235 | MC2R | c.669C>A (p.Ile223=)
| |
18 | g.13884851A>C | CA401994459 | MC2R | c.668T>G (p.Ile223Ser)
| |
18 | g.13884851A>G | CA401994460 | MC2R | c.668T>C (p.Ile223Thr)
| |
18 | g.13884851A>T | CA401994461 | MC2R | c.668T>A (p.Ile223Asn)
| |
18 | g.13884852T>A | CA401994465 | MC2R | c.667A>T (p.Ile223Phe)
| |
18 | g.13884852T>C | CA401994466 | MC2R | c.667A>G (p.Ile223Val)
| |
18 | g.13884852T>G | CA401994467 | MC2R | c.667A>C (p.Ile223Leu)
| |
18 | g.13884853G>A | CA503248238 | MC2R | c.666C>T (p.Thr222=)
| |
18 | g.13884853G>C | CA503248240 | MC2R | c.666C>G (p.Thr222=)
| ClinVar dbSNP |
18 | g.13884853G= | CA2285919297 | MC2R | c.666C= (p.Thr222=)
| |
18 | g.13884853G>T | CA503248243 | MC2R | c.666C>A (p.Thr222=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.13884854G>A | CA401994469 | MC2R | c.665C>T (p.Thr222Ile)
| gnomAD v4 |
18 | g.13884854G>C | CA401994473 | MC2R | c.665C>G (p.Thr222Ser)
| |
18 | g.13884854G= | CA2285919298 | MC2R | c.665C= (p.Thr222=)
| |
18 | g.13884854G>T | CA401994471 | MC2R | c.665C>A (p.Thr222Asn)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.13884855T>A | CA401994475 | MC2R | c.664A>T (p.Thr222Ser)
| |
18 | g.13884855T>C | CA401994477 | MC2R | c.664A>G (p.Thr222Ala)
| |
18 | g.13884855T>G | CA401994479 | MC2R | c.664A>C (p.Thr222Pro)
| |
18 | g.13884856C>A | CA503248246 | MC2R | c.663G>T (p.Leu221=)
| |
18 | g.13884856C= | CA2285919299 | MC2R | c.663G= (p.Leu221=)
| |
18 | g.13884856C>G | CA503248248 | MC2R | c.663G>C (p.Leu221=)
| dbSNP gnomAD v3 gnomAD v4 |
18 | g.13884856C>T | CA503248250 | MC2R | c.663G>A (p.Leu221=)
| |
18 | g.13884857A>C | CA401994481 | MC2R | c.662T>G (p.Leu221Arg)
| |
18 | g.13884857A>G | CA401994483 | MC2R | c.662T>C (p.Leu221Pro)
| |
18 | g.13884857A>T | CA401994485 | MC2R | c.662T>A (p.Leu221Gln)
| |
18 | g.13884858G>A | CA8902424 | MC2R | c.661C>T (p.Leu221=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.13884858G>C | CA401994488 | MC2R | c.661C>G (p.Leu221Val)
| |
18 | g.13884858G= | CA2285919300 | MC2R | c.661C= (p.Leu221=)
| |
18 | g.13884858G>T | CA401994490 | MC2R | c.661C>A (p.Leu221Met)
| |
18 | g.13884859T>A | CA503248257 | MC2R | c.660A>T (p.Thr220=)
| |
18 | g.13884859T>C | CA503248255 | MC2R | c.660A>G (p.Thr220=)
| |
18 | g.13884859T>G | CA503248253 | MC2R | c.660A>C (p.Thr220=)
| |
18 | g.13884860G>A | CA401994495 | MC2R | c.659C>T (p.Thr220Ile)
| gnomAD v4 COSMIC |
18 | g.13884860G>C | CA401994497 | MC2R | c.659C>G (p.Thr220Arg)
| |
18 | g.13884860G>T | CA401994493 | MC2R | c.659C>A (p.Thr220Lys)
| |
18 | g.13884860_13884863delinsGTGA | CA2285919301 | MC2R | c.656_659delinsTCAC (p.Ile219=)
| |
18 | g.13884861T>A | CA401994500 | MC2R | c.658A>T (p.Thr220Ser)
| |
18 | g.13884861T>C | CA401994502 | MC2R | c.658A>G (p.Thr220Ala)
| |
18 | g.13884861T>G | CA401994503 | MC2R | c.658A>C (p.Thr220Pro)
| |
18 | g.13884863_13884865del | CA8902425 | MC2R | c.656_658del (p.Ile219del)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.13884862G>A | CA503248265 | MC2R | c.657C>T (p.Ile219=)
| |
18 | g.13884862G>C | CA8902426 | MC2R | c.657C>G (p.Ile219Met)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.13884862G= | CA2285919302 | MC2R | c.657C= (p.Ile219=)
| |
18 | g.13884862G>T | CA503248268 | MC2R | c.657C>A (p.Ile219=)
| gnomAD v4 |
18 | g.13884863A= | CA2285919303 | MC2R | c.656T= (p.Ile219=)
| |
18 | g.13884863A>C | CA401994510 | MC2R | c.656T>G (p.Ile219Ser)
| |
18 | g.13884863A>G | CA8902427 | MC2R | c.656T>C (p.Ile219Thr)
| dbSNP ExAC gnomAD v4 |
18 | g.13884863A>T | CA401994507 | MC2R | c.656T>A (p.Ile219Asn)
| dbSNP gnomAD v2 gnomAD v4 |
18 | g.13884863_13884878delinsATGGCCCCTTTCATGT | CA2285919304 | MC2R | c.641_656delinsACATGAAAGGGGCCAT (p.Asn214=)
| |
18 | g.13884864T>A | CA401994513 | MC2R | c.655A>T (p.Ile219Phe)
| |
18 | g.13884864T>C | CA401994514 | MC2R | c.655A>G (p.Ile219Val)
| |
18 | g.13884864T>G | CA401994516 | MC2R | c.655A>C (p.Ile219Leu)
| |
18 | g.13884868_13884882del | CA628623261 | MC2R | c.641_655del (p.Asn214_Ala218del)
| dbSNP gnomAD v2 gnomAD v4 |
18 | g.13884865G>A | CA503248272 | MC2R | c.654C>T (p.Ala218=)
| |
18 | g.13884865G>C | CA503248275 | MC2R | c.654C>G (p.Ala218=)
| dbSNP gnomAD v3 gnomAD v4 |
18 | g.13884865G= | CA2285919305 | MC2R | c.654C= (p.Ala218=)
| |
18 | g.13884865G>T | CA503248273 | MC2R | c.654C>A (p.Ala218=)
| |
18 | g.13884866G>A | CA401994518 | MC2R | c.653C>T (p.Ala218Val)
| |
18 | g.13884866G>C | CA401994521 | MC2R | c.653C>G (p.Ala218Gly)
| |
18 | g.13884866G= | CA2285919306 | MC2R | c.653C= (p.Ala218=)
| |
18 | g.13884866G>T | CA401994522 | MC2R | c.653C>A (p.Ala218Asp)
| |
18 | g.13884866_13884867insT | CA8902428 | MC2R | c.652_653insA (p.Ala218AspfsTer?)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.13884867C>A | CA401994530 | MC2R | c.652G>T (p.Ala218Ser)
| |
18 | g.13884867C>G | CA401994528 | MC2R | c.652G>C (p.Ala218Pro)
| |
18 | g.13884867C>T | CA401994526 | MC2R | c.652G>A (p.Ala218Thr)
| |
18 | g.13884868C>A | CA503248285 | MC2R | c.651G>T (p.Gly217=)
| COSMIC |
18 | g.13884868C>G | CA503248281 | MC2R | c.651G>C (p.Gly217=)
| gnomAD v4 |
18 | g.13884868C>T | CA503248283 | MC2R | c.651G>A (p.Gly217=)
| gnomAD v4 |
18 | g.13884869C>A | CA401994533 | MC2R | c.650G>T (p.Gly217Val)
| |
18 | g.13884869C>G | CA401994534 | MC2R | c.650G>C (p.Gly217Ala)
| gnomAD v4 |
18 | g.13884869C>T | CA401994536 | MC2R | c.650G>A (p.Gly217Glu)
| COSMIC |
18 | g.13884870C>A | CA401994539 | MC2R | c.649G>T (p.Gly217Trp)
| gnomAD v4 |
18 | g.13884870C= | CA2285919307 | MC2R | c.649G= (p.Gly217=)
| |
18 | g.13884870C>G | CA401994541 | MC2R | c.649G>C (p.Gly217Arg)
| |
18 | g.13884870C>T | CA296828664 | MC2R | c.649G>A (p.Gly217Arg)
| dbSNP gnomAD v2 gnomAD v4 |
18 | g.13884870_13884871del | CA2641150777 | MC2R | c.648_649del (p.Ala218HisfsTer?)
| gnomAD v4 |
18 | g.13884871T>A | CA401994544 | MC2R | c.648A>T (p.Lys216Asn)
| |
18 | g.13884871T>C | CA503248288 | MC2R | c.648A>G (p.Lys216=)
| |
18 | g.13884871T>G | CA401994546 | MC2R | c.648A>C (p.Lys216Asn)
| |
18 | g.13884872T>A | CA401994549 | MC2R | c.647A>T (p.Lys216Ile)
| |
18 | g.13884872T>C | CA401994550 | MC2R | c.647A>G (p.Lys216Arg)
| gnomAD v4 |
18 | g.13884872T>G | CA401994552 | MC2R | c.647A>C (p.Lys216Thr)
| |
18 | g.13884873T>A | CA401994558 | MC2R | c.646A>T (p.Lys216Ter)
| |
18 | g.13884873T>C | CA401994556 | MC2R | c.646A>G (p.Lys216Glu)
| |
18 | g.13884873T>G | CA401994554 | MC2R | c.646A>C (p.Lys216Gln)
| |
18 | g.13884874C>A | CA401994563 | MC2R | c.645G>T (p.Met215Ile)
| |
18 | g.13884874C>G | CA401994561 | MC2R | c.645G>C (p.Met215Ile)
| |
18 | g.13884874C>T | CA401994564 | MC2R | c.645G>A (p.Met215Ile)
| COSMIC |
18 | g.13884875A= | CA2285919308 | MC2R | c.644T= (p.Met215=)
| |
18 | g.13884875A>C | CA401994567 | MC2R | c.644T>G (p.Met215Arg)
| |
18 | g.13884875A>G | CA401994570 | MC2R | c.644T>C (p.Met215Thr)
| |
18 | g.13884875A>T | CA8902429 | MC2R | c.644T>A (p.Met215Lys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.13884876T>A | CA401994573 | MC2R | c.643A>T (p.Met215Leu)
| |
18 | g.13884876T>C | CA8902430 | MC2R | c.643A>G (p.Met215Val)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.13884876T>G | CA401994574 | MC2R | c.643A>C (p.Met215Leu)
| |
18 | g.13884876T= | CA2285919309 | MC2R | c.643A= (p.Met215=)
| |
18 | g.13884877G>A | CA8902431 | MC2R | c.642C>T (p.Asn214=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.13884877G>C | CA401994577 | MC2R | c.642C>G (p.Asn214Lys)
| |
18 | g.13884877G= | CA2285919310 | MC2R | c.642C= (p.Asn214=)
| |
18 | g.13884877G>T | CA401994579 | MC2R | c.642C>A (p.Asn214Lys)
| dbSNP |
18 | g.13884878T>A | CA401994586 | MC2R | c.641A>T (p.Asn214Ile)
| |
18 | g.13884878T>C | CA401994584 | MC2R | c.641A>G (p.Asn214Ser)
| gnomAD v4 |
18 | g.13884878T>G | CA401994582 | MC2R | c.641A>C (p.Asn214Thr)
| |
18 | g.13884879T>A | CA401994589 | MC2R | c.640A>T (p.Asn214Tyr)
| dbSNP gnomAD v4 |
18 | g.13884879T>C | CA401994591 | MC2R | c.640A>G (p.Asn214Asp)
| |
18 | g.13884879T>G | CA401994592 | MC2R | c.640A>C (p.Asn214His)
| |
18 | g.13884879T= | CA2285919311 | MC2R | c.640A= (p.Asn214=)
| |
18 | g.13884880G>A | CA503248306 | MC2R | c.639C>T (p.Ala213=)
| |
18 | g.13884880G>C | CA503248307 | MC2R | c.639C>G (p.Ala213=)
| |
18 | g.13884880G>T | CA503248309 | MC2R | c.639C>A (p.Ala213=)
| gnomAD v4 |
18 | g.13884881G>A | CA8902432 | MC2R | c.638C>T (p.Ala213Val)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.13884881G>C | CA401994595 | MC2R | c.638C>G (p.Ala213Gly)
| |
18 | g.13884881G= | CA2285919312 | MC2R | c.638C= (p.Ala213=)
| |
18 | g.13884881G>T | CA401994597 | MC2R | c.638C>A (p.Ala213Asp)
| |
18 | g.13884882C>A | CA8902433 | MC2R | c.637G>T (p.Ala213Ser)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.13884882C= | CA2285919313 | MC2R | c.637G= (p.Ala213=)
| |
18 | g.13884882C>G | CA401994603 | MC2R | c.637G>C (p.Ala213Pro)
| |
18 | g.13884882C>T | CA401994601 | MC2R | c.637G>A (p.Ala213Thr)
| |
18 | g.13884883T>A | CA401994605 | MC2R | c.636A>T (p.Arg212Ser)
| |
18 | g.13884883T>C | CA503248311 | MC2R | c.636A>G (p.Arg212=)
| gnomAD v4 |
18 | g.13884883T>G | CA401994606 | MC2R | c.636A>C (p.Arg212Ser)
| |
18 | g.13884884C>A | CA401994607 | MC2R | c.635G>T (p.Arg212Ile)
| |
18 | g.13884884C>G | CA401994609 | MC2R | c.635G>C (p.Arg212Thr)
| |
18 | g.13884884C>T | CA401994611 | MC2R | c.635G>A (p.Arg212Lys)
| |
18 | g.13884884_13884885delinsCT | CA2285919314 | MC2R | c.634_635delinsAG (p.Arg212=)
| |
18 | g.13884885del | CA628623268 | MC2R | c.634del (p.Arg212GlufsTer4)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.13884885T>A | CA401994613 | MC2R | c.634A>T (p.Arg212Ter)
| |
18 | g.13884885T>C | CA401994615 | MC2R | c.634A>G (p.Arg212Gly)
| |
18 | g.13884885T>G | CA503248315 | MC2R | c.634A>C (p.Arg212=)
| |
18 | g.13884885_13884888delinsTGGG | CA2285919315 | MC2R | c.631_634delinsCCCA (p.Pro211=)
| |
18 | g.13884886G>A | CA8902434 | MC2R | c.633C>T (p.Pro211=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
18 | g.13884886G>C | CA503248320 | MC2R | c.633C>G (p.Pro211=)
| gnomAD v4 |
18 | g.13884886G= | CA2285919316 | MC2R | c.633C= (p.Pro211=)
| |
18 | g.13884886G>T | CA503248317 | MC2R | c.633C>A (p.Pro211=)
| |
18 | g.13884887_13884889del | CA776351216 | MC2R | c.631_633del (p.Pro211del)
| dbSNP gnomAD v3 gnomAD v4 |