UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.60371602G>A | CA504305261 | MC4R | c.748C>T (p.Leu250=) | |
| 18 | g.60371602G>C | CA402719161 | MC4R | c.748C>G (p.Leu250Val) | |
| 18 | g.60371602G>T | CA402719162 | MC4R | c.748C>A (p.Leu250Met) | |
| 18 | g.60371603G>A | CA8980848 | MC4R | c.747C>T (p.Ile249=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.60371603G>C | CA402719163 | MC4R | c.747C>G (p.Ile249Met) | |
| 18 | g.60371603G= | CA2307359039 | MC4R | c.747C= (p.Ile249=) | |
| 18 | g.60371603G>T | CA504305265 | MC4R | c.747C>A (p.Ile249=) | |
| 18 | g.60371604A>C | CA402719164 | MC4R | c.746T>G (p.Ile249Ser) | |
| 18 | g.60371604A>G | CA402719165 | MC4R | c.746T>C (p.Ile249Thr) | |
| 18 | g.60371604A>T | CA402719166 | MC4R | c.746T>A (p.Ile249Asn) | |
| 18 | g.60371605T>A | CA402719167 | MC4R | c.745A>T (p.Ile249Phe) | |
| 18 | g.60371605T>C | CA402719168 | MC4R | c.745A>G (p.Ile249Val) | dbSNP |
| 18 | g.60371605T>G | CA402719169 | MC4R | c.745A>C (p.Ile249Leu) | |
| 18 | g.60371605T= | CA2307359040 | MC4R | c.745A= (p.Ile249=) | |
| 18 | g.60371606G>A | CA504305274 | MC4R | c.744C>T (p.Thr248=) | dbSNP |
| 18 | g.60371606G>C | CA504305276 | MC4R | c.744C>G (p.Thr248=) | |
| 18 | g.60371606G= | CA2307359041 | MC4R | c.744C= (p.Thr248=) | |
| 18 | g.60371606G>T | CA8980849 | MC4R | c.744C>A (p.Thr248=) | dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC |
| 18 | g.60371607G>A | CA402719172 | MC4R | c.743C>T (p.Thr248Ile) | |
| 18 | g.60371607G>C | CA402719171 | MC4R | c.743C>G (p.Thr248Ser) | |
| 18 | g.60371607G>T | CA402719170 | MC4R | c.743C>A (p.Thr248Asn) | |
| 18 | g.60371608T>A | CA402719173 | MC4R | c.742A>T (p.Thr248Ser) | gnomAD v4 |
| 18 | g.60371608T>C | CA402719174 | MC4R | c.742A>G (p.Thr248Ala) | dbSNP gnomAD v4 |
| 18 | g.60371608T>G | CA402719175 | MC4R | c.742A>C (p.Thr248Pro) | |
| 18 | g.60371608T= | CA2307359042 | MC4R | c.742A= (p.Thr248=) | |
| 18 | g.60371609C>A | CA402719176 | MC4R | c.741G>T (p.Leu247Phe) | |
| 18 | g.60371609C>G | CA402719177 | MC4R | c.741G>C (p.Leu247Phe) | |
| 18 | g.60371609C>T | CA504305282 | MC4R | c.741G>A (p.Leu247=) | |
| 18 | g.60371610A>C | CA402719178 | MC4R | c.740T>G (p.Leu247Trp) | |
| 18 | g.60371610A>G | CA402719179 | MC4R | c.740T>C (p.Leu247Ser) | |
| 18 | g.60371610A>T | CA402719180 | MC4R | c.740T>A (p.Leu247Ter) | |
| 18 | g.60371611A= | CA2307359043 | MC4R | c.739T= (p.Leu247=) | |
| 18 | g.60371611A>C | CA402719181 | MC4R | c.739T>G (p.Leu247Val) | |
| 18 | g.60371611A>G | CA504305284 | MC4R | c.739T>C (p.Leu247=) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.60371611A>T | CA301530018 | MC4R | c.739T>A (p.Leu247Met) | dbSNP |
| 18 | g.60371612G>A | CA504305286 | MC4R | c.738C>T (p.Thr246=) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.60371612G>C | CA504305288 | MC4R | c.738C>G (p.Thr246=) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.60371612G= | CA2307359044 | MC4R | c.738C= (p.Thr246=) | |
| 18 | g.60371612G>T | CA504305289 | MC4R | c.738C>A (p.Thr246=) | |
| 18 | g.60371613G>A | CA402719182 | MC4R | c.737C>T (p.Thr246Ile) | |
| 18 | g.60371613G>C | CA402719183 | MC4R | c.737C>G (p.Thr246Ser) | |
| 18 | g.60371613G= | CA2307359045 | MC4R | c.737C= (p.Thr246=) | |
| 18 | g.60371613G>T | CA402719184 | MC4R | c.737C>A (p.Thr246Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.60371614T>A | CA402719187 | MC4R | c.736A>T (p.Thr246Ser) | |
| 18 | g.60371614T>C | CA402719186 | MC4R | c.736A>G (p.Thr246Ala) | |
| 18 | g.60371614T>G | CA402719185 | MC4R | c.736A>C (p.Thr246Pro) | |
| 18 | g.60371615A>C | CA402719188 | MC4R | c.735T>G (p.Ile245Met) | |
| 18 | g.60371615A>G | CA504305292 | MC4R | c.735T>C (p.Ile245=) | gnomAD v4 |
| 18 | g.60371615A>T | CA504305294 | MC4R | c.735T>A (p.Ile245=) | |
| 18 | g.60371615_60371618dup | CA2580095964 | MC4R | c.732_735dup (p.Thr246AspfsTer?) | ClinVar dbSNP |
| 18 | g.60371616A>C | CA402719189 | MC4R | c.734T>G (p.Ile245Ser) | |
| 18 | g.60371616A>G | CA402719190 | MC4R | c.734T>C (p.Ile245Thr) | |
| 18 | g.60371616A>T | CA402719191 | MC4R | c.734T>A (p.Ile245Asn) | |
| 18 | g.60371617T>A | CA402719192 | MC4R | c.733A>T (p.Ile245Phe) | |
| 18 | g.60371617T>C | CA402719193 | MC4R | c.733A>G (p.Ile245Val) | |
| 18 | g.60371617T>G | CA402719194 | MC4R | c.733A>C (p.Ile245Leu) | |
| 18 | g.60371618C>A | CA504305298 | MC4R | c.732G>T (p.Ala244=) | |
| 18 | g.60371618C= | CA2307359046 | MC4R | c.732G= (p.Ala244=) | |
| 18 | g.60371618C>G | CA504305300 | MC4R | c.732G>C (p.Ala244=) | |
| 18 | g.60371618C>T | CA8980850 | MC4R | c.732G>A (p.Ala244=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 18 | g.60371619G>A | CA8980853 | MC4R | c.731C>T (p.Ala244Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 18 | g.60371619G>C | CA8980852 | MC4R | c.731C>G (p.Ala244Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371619G= | CA2307359047 | MC4R | c.731C= (p.Ala244=) | |
| 18 | g.60371619G>T | CA8980851 | MC4R | c.731C>A (p.Ala244Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371620C>A | CA402719195 | MC4R | c.730G>T (p.Ala244Ser) | |
| 18 | g.60371620C= | CA2307359048 | MC4R | c.730G= (p.Ala244=) | |
| 18 | g.60371620C>G | CA402719196 | MC4R | c.730G>C (p.Ala244Pro) | |
| 18 | g.60371620C>T | CA301530019 | MC4R | c.730G>A (p.Ala244Thr) | dbSNP |
| 18 | g.60371621T>A | CA504305302 | MC4R | c.729A>T (p.Gly243=) | |
| 18 | g.60371621T>C | CA504305303 | MC4R | c.729A>G (p.Gly243=) | gnomAD v4 |
| 18 | g.60371621T>G | CA504305304 | MC4R | c.729A>C (p.Gly243=) | |
| 18 | g.60371622C>A | CA402719198 | MC4R | c.728G>T (p.Gly243Val) | |
| 18 | g.60371622C>G | CA402719199 | MC4R | c.728G>C (p.Gly243Ala) | |
| 18 | g.60371622C>T | CA402719197 | MC4R | c.728G>A (p.Gly243Glu) | gnomAD v4 |
| 18 | g.60371623C>A | CA402719200 | MC4R | c.727G>T (p.Gly243Ter) | |
| 18 | g.60371623C= | CA2307359049 | MC4R | c.727G= (p.Gly243=) | |
| 18 | g.60371623C>G | CA402719201 | MC4R | c.727G>C (p.Gly243Arg) | dbSNP gnomAD v2 |
| 18 | g.60371623C>T | CA301530020 | MC4R | c.727G>A (p.Gly243Arg) | ClinVar dbSNP gnomAD v4 |
| 18 | g.60371624C>A | CA402719202 | MC4R | c.726G>T (p.Lys242Asn) | COSMIC |
| 18 | g.60371624C= | CA2307359050 | MC4R | c.726G= (p.Lys242=) | |
| 18 | g.60371624C>G | CA402719203 | MC4R | c.726G>C (p.Lys242Asn) | |
| 18 | g.60371624C>T | CA8980854 | MC4R | c.726G>A (p.Lys242=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371625T>A | CA402719204 | MC4R | c.725A>T (p.Lys242Met) | gnomAD v4 |
| 18 | g.60371625T>C | CA402719205 | MC4R | c.725A>G (p.Lys242Arg) | |
| 18 | g.60371625T>G | CA402719206 | MC4R | c.725A>C (p.Lys242Thr) | |
| 18 | g.60371626T>A | CA402719207 | MC4R | c.724A>T (p.Lys242Ter) | |
| 18 | g.60371626T>C | CA402719208 | MC4R | c.724A>G (p.Lys242Glu) | |
| 18 | g.60371626T>G | CA402719209 | MC4R | c.724A>C (p.Lys242Gln) | |
| 18 | g.60371627C>A | CA402719212 | MC4R | c.723G>T (p.Met241Ile) | |
| 18 | g.60371627C>G | CA402719211 | MC4R | c.723G>C (p.Met241Ile) | |
| 18 | g.60371627C>T | CA402719210 | MC4R | c.723G>A (p.Met241Ile) | COSMIC |
| 18 | g.60371628A= | CA2307359051 | MC4R | c.722T= (p.Met241=) | |
| 18 | g.60371628A>C | CA402719213 | MC4R | c.722T>G (p.Met241Arg) | |
| 18 | g.60371628A>G | CA8980855 | MC4R | c.722T>C (p.Met241Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371628A>T | CA402719214 | MC4R | c.722T>A (p.Met241Lys) | |
| 18 | g.60371629T>A | CA402719215 | MC4R | c.721A>T (p.Met241Leu) | |
| 18 | g.60371629T>C | CA402719216 | MC4R | c.721A>G (p.Met241Val) | |
| 18 | g.60371629T>G | CA402719217 | MC4R | c.721A>C (p.Met241Leu) | |
| 18 | g.60371630A= | CA2307359052 | MC4R | c.720T= (p.Asn240=) | |
| 18 | g.60371630A>C | CA402719218 | MC4R | c.720T>G (p.Asn240Lys) | |
| 18 | g.60371630A>G | CA301530021 | MC4R | c.720T>C (p.Asn240=) | dbSNP |
| 18 | g.60371630A>T | CA402719219 | MC4R | c.720T>A (p.Asn240Lys) | COSMIC |
| 18 | g.60371631T>A | CA402719220 | MC4R | c.719A>T (p.Asn240Ile) | COSMIC |
| 18 | g.60371631T>C | CA8980856 | MC4R | c.719A>G (p.Asn240Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371631T>G | CA402719221 | MC4R | c.719A>C (p.Asn240Thr) | |
| 18 | g.60371631T= | CA2307359053 | MC4R | c.719A= (p.Asn240=) | |
| 18 | g.60371632T>A | CA402719222 | MC4R | c.718A>T (p.Asn240Tyr) | |
| 18 | g.60371632T>C | CA402719224 | MC4R | c.718A>G (p.Asn240Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.60371632T>G | CA402719223 | MC4R | c.718A>C (p.Asn240His) | |
| 18 | g.60371632T= | CA2307359054 | MC4R | c.718A= (p.Asn240=) | |
| 18 | g.60371633G>A | CA504305310 | MC4R | c.717C>T (p.Ala239=) | |
| 18 | g.60371633G>C | CA504305312 | MC4R | c.717C>G (p.Ala239=) | |
| 18 | g.60371633G>T | CA504305314 | MC4R | c.717C>A (p.Ala239=) | |
| 18 | g.60371634G>A | CA402719225 | MC4R | c.716C>T (p.Ala239Val) | |
| 18 | g.60371634G>C | CA402719226 | MC4R | c.716C>G (p.Ala239Gly) | |
| 18 | g.60371634G= | CA2307359055 | MC4R | c.716C= (p.Ala239=) | |
| 18 | g.60371634G>T | CA301530022 | MC4R | c.716C>A (p.Ala239Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.60371635C>A | CA402719227 | MC4R | c.715G>T (p.Ala239Ser) | |
| 18 | g.60371635C= | CA2307359056 | MC4R | c.715G= (p.Ala239=) | |
| 18 | g.60371635C>G | CA402719229 | MC4R | c.715G>C (p.Ala239Pro) | |
| 18 | g.60371635C>T | CA402719228 | MC4R | c.715G>A (p.Ala239Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.60371636A>C | CA504305317 | MC4R | c.714T>G (p.Gly238=) | |
| 18 | g.60371636A>G | CA504305319 | MC4R | c.714T>C (p.Gly238=) | |
| 18 | g.60371636A>T | CA504305321 | MC4R | c.714T>A (p.Gly238=) | |
| 18 | g.60371637C>A | CA402719230 | MC4R | c.713G>T (p.Gly238Val) | dbSNP gnomAD v4 |
| 18 | g.60371637C= | CA2307359057 | MC4R | c.713G= (p.Gly238=) | |
| 18 | g.60371637C>G | CA8980858 | MC4R | c.713G>C (p.Gly238Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.60371637C>T | CA8980857 | MC4R | c.713G>A (p.Gly238Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.60371638C>A | CA402719231 | MC4R | c.712G>T (p.Gly238Cys) | |
| 18 | g.60371638C= | CA2307359058 | MC4R | c.712G= (p.Gly238=) | |
| 18 | g.60371638C>G | CA402719232 | MC4R | c.712G>C (p.Gly238Arg) | |
| 18 | g.60371638C>T | CA8980859 | MC4R | c.712G>A (p.Gly238Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371639T>A | CA402719233 | MC4R | c.711A>T (p.Gln237His) | |
| 18 | g.60371639T>C | CA8980860 | MC4R | c.711A>G (p.Gln237=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.60371639T>G | CA402719234 | MC4R | c.711A>C (p.Gln237His) | |
| 18 | g.60371639T= | CA2307359059 | MC4R | c.711A= (p.Gln237=) | |
| 18 | g.60371640T>A | CA402719235 | MC4R | c.710A>T (p.Gln237Leu) | |
| 18 | g.60371640T>C | CA402719236 | MC4R | c.710A>G (p.Gln237Arg) | |
| 18 | g.60371640T>G | CA402719237 | MC4R | c.710A>C (p.Gln237Pro) | |
| 18 | g.60371641G>A | CA402719238 | MC4R | c.709C>T (p.Gln237Ter) | |
| 18 | g.60371641G>C | CA402719239 | MC4R | c.709C>G (p.Gln237Glu) | |
| 18 | g.60371641G>T | CA402719240 | MC4R | c.709C>A (p.Gln237Lys) | |
| 18 | g.60371642G>A | CA504305332 | MC4R | c.708C>T (p.Arg236=) | dbSNP |
| 18 | g.60371642G>C | CA504305333 | MC4R | c.708C>G (p.Arg236=) | |
| 18 | g.60371642G= | CA2307359060 | MC4R | c.708C= (p.Arg236=) | |
| 18 | g.60371642G>T | CA504305334 | MC4R | c.708C>A (p.Arg236=) | |
| 18 | g.60371643C>A | CA402719243 | MC4R | c.707G>T (p.Arg236Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.60371643C= | CA2307359062 | MC4R | c.707G= (p.Arg236=) | |
| 18 | g.60371643C>G | CA402719241 | MC4R | c.707G>C (p.Arg236Pro) | |
| 18 | g.60371643C>T | CA402719242 | MC4R | c.707G>A (p.Arg236His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371643_60371644delinsCG | CA2307359061 | MC4R | c.706_707delinsCG (p.Arg236=) | |
| 18 | g.60371644G>A | CA8980861 | MC4R | c.706C>T (p.Arg236Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 18 | g.60371644G>C | CA402719244 | MC4R | c.706C>G (p.Arg236Gly) | gnomAD v4 |
| 18 | g.60371644G= | CA2307359063 | MC4R | c.706C= (p.Arg236=) | |
| 18 | g.60371644G>T | CA402719245 | MC4R | c.706C>A (p.Arg236Ser) | |
| 18 | g.60371645del | CA630399144 | MC4R | c.706del (p.Arg236AlafsTer6) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.60371645G>A | CA504305337 | MC4R | c.705C>T (p.Ile235=) | |
| 18 | g.60371645G>C | CA402719246 | MC4R | c.705C>G (p.Ile235Met) | |
| 18 | g.60371645G>T | CA504305340 | MC4R | c.705C>A (p.Ile235=) | |
| 18 | g.60371646A= | CA2307359064 | MC4R | c.704T= (p.Ile235=) | |
| 18 | g.60371646A>C | CA402719247 | MC4R | c.704T>G (p.Ile235Ser) | |
| 18 | g.60371646A>G | CA8980862 | MC4R | c.704T>C (p.Ile235Thr) | dbSNP ExAC gnomAD v2 |
| 18 | g.60371646A>T | CA402719248 | MC4R | c.704T>A (p.Ile235Asn) | |
| 18 | g.60371647T>A | CA402719249 | MC4R | c.703A>T (p.Ile235Phe) | |
| 18 | g.60371647T>C | CA402719250 | MC4R | c.703A>G (p.Ile235Val) | |
| 18 | g.60371647T>G | CA402719251 | MC4R | c.703A>C (p.Ile235Leu) | |
| 18 | g.60371648G>A | CA504305342 | MC4R | c.702C>T (p.Ala234=) | gnomAD v4 |
| 18 | g.60371648G>C | CA504305344 | MC4R | c.702C>G (p.Ala234=) | |
| 18 | g.60371648G>T | CA504305343 | MC4R | c.702C>A (p.Ala234=) | |
| 18 | g.60371649G>A | CA8980863 | MC4R | c.701C>T (p.Ala234Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.60371649G>C | CA402719253 | MC4R | c.701C>G (p.Ala234Gly) | |
| 18 | g.60371649G= | CA2307359065 | MC4R | c.701C= (p.Ala234=) | |
| 18 | g.60371649G>T | CA402719252 | MC4R | c.701C>A (p.Ala234Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.60371650C>A | CA402719254 | MC4R | c.700G>T (p.Ala234Ser) | |
| 18 | g.60371650C= | CA2307359066 | MC4R | c.700G= (p.Ala234=) | |
| 18 | g.60371650C>G | CA402719255 | MC4R | c.700G>C (p.Ala234Pro) | |
| 18 | g.60371650C>T | CA402719256 | MC4R | c.700G>A (p.Ala234Thr) | dbSNP gnomAD v4 |
| 18 | g.60371651A>C | CA504305353 | MC4R | c.699T>G (p.Gly233=) | |
| 18 | g.60371651A>G | CA504305354 | MC4R | c.699T>C (p.Gly233=) | |
| 18 | g.60371651A>T | CA504305355 | MC4R | c.699T>A (p.Gly233=) | |
| 18 | g.60371652C>A | CA402719257 | MC4R | c.698G>T (p.Gly233Val) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.60371652C= | CA2307359067 | MC4R | c.698G= (p.Gly233=) | |
| 18 | g.60371652C>G | CA402719258 | MC4R | c.698G>C (p.Gly233Ala) | |
| 18 | g.60371652C>T | CA402719259 | MC4R | c.698G>A (p.Gly233Asp) | gnomAD v4 |
| 18 | g.60371653C>A | CA402719260 | MC4R | c.697G>T (p.Gly233Cys) | |
| 18 | g.60371653C>G | CA402719261 | MC4R | c.697G>C (p.Gly233Arg) | |
| 18 | g.60371653C>T | CA402719262 | MC4R | c.697G>A (p.Gly233Ser) | gnomAD v4 |
| 18 | g.60371654A>C | CA504305359 | MC4R | c.696T>G (p.Thr232=) | |
| 18 | g.60371654A>G | CA504305360 | MC4R | c.696T>C (p.Thr232=) | |
| 18 | g.60371654A>T | CA504305361 | MC4R | c.696T>A (p.Thr232=) | |
| 18 | g.60371655G>A | CA402719263 | MC4R | c.695C>T (p.Thr232Ile) | |
| 18 | g.60371655G>C | CA402719264 | MC4R | c.695C>G (p.Thr232Ser) | |
| 18 | g.60371655G>T | CA402719265 | MC4R | c.695C>A (p.Thr232Asn) | |
| 18 | g.60371656T>A | CA402719268 | MC4R | c.694A>T (p.Thr232Ser) | |
| 18 | g.60371656T>C | CA402719266 | MC4R | c.694A>G (p.Thr232Ala) | |
| 18 | g.60371656T>G | CA402719267 | MC4R | c.694A>C (p.Thr232Pro) | |
| 18 | g.60371657G>A | CA301530023 | MC4R | c.693C>T (p.Gly231=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.60371657G>C | CA504305362 | MC4R | c.693C>G (p.Gly231=) | |
| 18 | g.60371657G= | CA2307359068 | MC4R | c.693C= (p.Gly231=) | |
| 18 | g.60371657G>T | CA504305363 | MC4R | c.693C>A (p.Gly231=) | |
| 18 | g.60371658C>A | CA402719269 | MC4R | c.692G>T (p.Gly231Val) | |
| 18 | g.60371658C= | CA2307359069 | MC4R | c.692G= (p.Gly231=) | |
| 18 | g.60371658C>G | CA402719270 | MC4R | c.692G>C (p.Gly231Ala) | |
| 18 | g.60371658C>T | CA402719271 | MC4R | c.692G>A (p.Gly231Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.60371659C>A | CA402719272 | MC4R | c.691G>T (p.Gly231Cys) | |
| 18 | g.60371659C= | CA2307359071 | MC4R | c.691G= (p.Gly231=) | |
| 18 | g.60371659C>G | CA402719273 | MC4R | c.691G>C (p.Gly231Arg) | |
| 18 | g.60371659C>T | CA8980864 | MC4R | c.691G>A (p.Gly231Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 18 | g.60371659_60371660delinsCG | CA2307359070 | MC4R | c.690_691delinsCG (p.Pro230=) | |
| 18 | g.60371660G>A | CA8980866 | MC4R | c.690C>T (p.Pro230=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 18 | g.60371660G>C | CA504305370 | MC4R | c.690C>G (p.Pro230=) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.60371660G= | CA2307359072 | MC4R | c.690C= (p.Pro230=) | |
| 18 | g.60371660G>T | CA504305371 | MC4R | c.690C>A (p.Pro230=) | |
| 18 | g.60371663del | CA8980865 | MC4R | c.690del (p.Gly231AlafsTer11) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.60371661G>A | CA301530024 | MC4R | c.689C>T (p.Pro230Leu) | dbSNP gnomAD v4 |
| 18 | g.60371661G>C | CA402719274 | MC4R | c.689C>G (p.Pro230Arg) | |
| 18 | g.60371661G= | CA2307359073 | MC4R | c.689C= (p.Pro230=) | |
| 18 | g.60371661G>T | CA402719275 | MC4R | c.689C>A (p.Pro230His) | |
| 18 | g.60371662G>A | CA402719278 | MC4R | c.688C>T (p.Pro230Ser) | gnomAD v4 |
| 18 | g.60371662G>C | CA402719277 | MC4R | c.688C>G (p.Pro230Ala) | |
| 18 | g.60371662G>T | CA402719276 | MC4R | c.688C>A (p.Pro230Thr) | |
| 18 | g.60371663G>A | CA504305380 | MC4R | c.687C>T (p.Leu229=) | |
| 18 | g.60371663G>C | CA8980867 | MC4R | c.687C>G (p.Leu229=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371663G= | CA2307359074 | MC4R | c.687C= (p.Leu229=) | |
| 18 | g.60371663G>T | CA504305378 | MC4R | c.687C>A (p.Leu229=) | |
| 18 | g.60371664A= | CA2307359075 | MC4R | c.686T= (p.Leu229=) | |
| 18 | g.60371664A>C | CA402719279 | MC4R | c.686T>G (p.Leu229Arg) | |
| 18 | g.60371664A>G | CA301530025 | MC4R | c.686T>C (p.Leu229Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371664A>T | CA402719280 | MC4R | c.686T>A (p.Leu229His) | |
| 18 | g.60371665G>A | CA402719281 | MC4R | c.685C>T (p.Leu229Phe) | dbSNP COSMIC |
| 18 | g.60371665G>C | CA402719282 | MC4R | c.685C>G (p.Leu229Val) | gnomAD v4 |
| 18 | g.60371665G= | CA2307359076 | MC4R | c.685C= (p.Leu229=) | |
| 18 | g.60371665G>T | CA402719283 | MC4R | c.685C>A (p.Leu229Ile) | |
| 18 | g.60371666G>A | CA504305384 | MC4R | c.684C>T (p.Val228=) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.60371666G>C | CA504305385 | MC4R | c.684C>G (p.Val228=) | |
| 18 | g.60371666G= | CA2307359077 | MC4R | c.684C= (p.Val228=) | |
| 18 | g.60371666G>T | CA504305386 | MC4R | c.684C>A (p.Val228=) | |
| 18 | g.60371667A>C | CA402719284 | MC4R | c.683T>G (p.Val228Gly) | |
| 18 | g.60371667A>G | CA402719285 | MC4R | c.683T>C (p.Val228Ala) | |
| 18 | g.60371667A>T | CA402719286 | MC4R | c.683T>A (p.Val228Asp) | |
| 18 | g.60371668C>A | CA402719287 | MC4R | c.682G>T (p.Val228Phe) | dbSNP |
| 18 | g.60371668C= | CA2307359078 | MC4R | c.682G= (p.Val228=) | |
| 18 | g.60371668C>G | CA402719288 | MC4R | c.682G>C (p.Val228Leu) | |
| 18 | g.60371668C>T | CA402719289 | MC4R | c.682G>A (p.Val228Ile) | dbSNP gnomAD v2 |
| 18 | g.60371669A= | CA2307359079 | MC4R | c.681T= (p.Ala227=) | |
| 18 | g.60371669A>C | CA504305390 | MC4R | c.681T>G (p.Ala227=) | |
| 18 | g.60371669A>G | CA8980868 | MC4R | c.681T>C (p.Ala227=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.60371669A>T | CA504305389 | MC4R | c.681T>A (p.Ala227=) | |
| 18 | g.60371670G>A | CA402719290 | MC4R | c.680C>T (p.Ala227Val) | COSMIC |
| 18 | g.60371670G>C | CA402719291 | MC4R | c.680C>G (p.Ala227Gly) | |
| 18 | g.60371670G>T | CA402719292 | MC4R | c.680C>A (p.Ala227Asp) | |
| 18 | g.60371671C>A | CA402719293 | MC4R | c.679G>T (p.Ala227Ser) | |
| 18 | g.60371671C= | CA2307359080 | MC4R | c.679G= (p.Ala227=) | |
| 18 | g.60371671C>G | CA402719294 | MC4R | c.679G>C (p.Ala227Pro) | |
| 18 | g.60371671C>T | CA8980869 | MC4R | c.679G>A (p.Ala227Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371672A>C | CA402719295 | MC4R | c.678T>G (p.Ile226Met) | |
| 18 | g.60371672A>G | CA504305467 | MC4R | c.678T>C (p.Ile226=) | |
| 18 | g.60371672A>T | CA504305468 | MC4R | c.678T>A (p.Ile226=) | |
| 18 | g.60371673A= | CA2307359081 | MC4R | c.677T= (p.Ile226=) | |
| 18 | g.60371673A>C | CA402719296 | MC4R | c.677T>G (p.Ile226Ser) | |
| 18 | g.60371673A>G | CA214144 | MC4R | c.677T>C (p.Ile226Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371673A>T | CA402719297 | MC4R | c.677T>A (p.Ile226Asn) | |
| 18 | g.60371674T>A | CA402719298 | MC4R | c.676A>T (p.Ile226Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.60371674T>C | CA402719299 | MC4R | c.676A>G (p.Ile226Val) | |
| 18 | g.60371674T>G | CA402719300 | MC4R | c.676A>C (p.Ile226Leu) | |
| 18 | g.60371674T= | CA2307359082 | MC4R | c.676A= (p.Ile226=) | |
| 18 | g.60371675C>A | CA402719301 | MC4R | c.675G>T (p.Arg225Ser) | COSMIC |
| 18 | g.60371675C= | CA2307359083 | MC4R | c.675G= (p.Arg225=) | |
| 18 | g.60371675C>G | CA402719302 | MC4R | c.675G>C (p.Arg225Ser) | |
| 18 | g.60371675C>T | CA301530026 | MC4R | c.675G>A (p.Arg225=) | dbSNP |
| 18 | g.60371676C>A | CA402719305 | MC4R | c.674G>T (p.Arg225Met) | dbSNP |
| 18 | g.60371676C= | CA2307359084 | MC4R | c.674G= (p.Arg225=) | |
| 18 | g.60371676C>G | CA402719304 | MC4R | c.674G>C (p.Arg225Thr) | |
| 18 | g.60371676C>T | CA402719303 | MC4R | c.674G>A (p.Arg225Lys) | |
| 18 | g.60371677T>A | CA402719306 | MC4R | c.673A>T (p.Arg225Trp) | |
| 18 | g.60371677T>C | CA402719307 | MC4R | c.673A>G (p.Arg225Gly) | |
| 18 | g.60371677T>G | CA504305475 | MC4R | c.673A>C (p.Arg225=) | |
| 18 | g.60371678C>A | CA402719308 | MC4R | c.672G>T (p.Lys224Asn) | |
| 18 | g.60371678C>G | CA402719309 | MC4R | c.672G>C (p.Lys224Asn) | |
| 18 | g.60371678C>T | CA504305476 | MC4R | c.672G>A (p.Lys224=) | |
| 18 | g.60371679T>A | CA402719310 | MC4R | c.671A>T (p.Lys224Met) | |
| 18 | g.60371679T>C | CA402719311 | MC4R | c.671A>G (p.Lys224Arg) | COSMIC |
| 18 | g.60371679T>G | CA402719312 | MC4R | c.671A>C (p.Lys224Thr) | |
| 18 | g.60371680T>A | CA402719313 | MC4R | c.670A>T (p.Lys224Ter) | |
| 18 | g.60371680T>C | CA402719314 | MC4R | c.670A>G (p.Lys224Glu) | |
| 18 | g.60371680T>G | CA402719315 | MC4R | c.670A>C (p.Lys224Gln) | |
| 18 | g.60371681A= | CA2307359085 | MC4R | c.669T= (p.Ile223=) | |
| 18 | g.60371681A>C | CA402719316 | MC4R | c.669T>G (p.Ile223Met) | COSMIC |
| 18 | g.60371681A>G | CA8980870 | MC4R | c.669T>C (p.Ile223=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.60371681A>T | CA504305479 | MC4R | c.669T>A (p.Ile223=) | |
| 18 | g.60371682A>C | CA402719318 | MC4R | c.668T>G (p.Ile223Ser) | |
| 18 | g.60371682A>G | CA402719319 | MC4R | c.668T>C (p.Ile223Thr) | |
| 18 | g.60371682A>T | CA402719317 | MC4R | c.668T>A (p.Ile223Asn) | |
| 18 | g.60371683T>A | CA402719320 | MC4R | c.667A>T (p.Ile223Phe) | |
| 18 | g.60371683T>C | CA402719321 | MC4R | c.667A>G (p.Ile223Val) | |
| 18 | g.60371683T>G | CA402719322 | MC4R | c.667A>C (p.Ile223Leu) | |
| 18 | g.60371684G>A | CA504305483 | MC4R | c.666C>T (p.His222=) | gnomAD v4 |
| 18 | g.60371684G>C | CA402719323 | MC4R | c.666C>G (p.His222Gln) | |
| 18 | g.60371684G>T | CA402719324 | MC4R | c.666C>A (p.His222Gln) | |
| 18 | g.60371685T>A | CA402719327 | MC4R | c.665A>T (p.His222Leu) | |
| 18 | g.60371685T>C | CA402719325 | MC4R | c.665A>G (p.His222Arg) | |
| 18 | g.60371685T>G | CA402719326 | MC4R | c.665A>C (p.His222Pro) | |
| 18 | g.60371686G>A | CA402719328 | MC4R | c.664C>T (p.His222Tyr) | |
| 18 | g.60371686G>C | CA402719329 | MC4R | c.664C>G (p.His222Asp) | |
| 18 | g.60371686G>T | CA402719330 | MC4R | c.664C>A (p.His222Asn) | |
| 18 | g.60371687A= | CA2307359086 | MC4R | c.663T= (p.Leu221=) | |
| 18 | g.60371687A>C | CA504305484 | MC4R | c.663T>G (p.Leu221=) | dbSNP |
| 18 | g.60371687A>G | CA504305485 | MC4R | c.663T>C (p.Leu221=) | |
| 18 | g.60371687A>T | CA504305486 | MC4R | c.663T>A (p.Leu221=) | |
| 18 | g.60371688A= | CA2307359087 | MC4R | c.662T= (p.Leu221=) | |
| 18 | g.60371688A>C | CA402719331 | MC4R | c.662T>G (p.Leu221Arg) | |
| 18 | g.60371688A>G | CA402719332 | MC4R | c.662T>C (p.Leu221Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.60371688A>T | CA402719333 | MC4R | c.662T>A (p.Leu221His) | |
| 18 | g.60371689G>A | CA402719335 | MC4R | c.661C>T (p.Leu221Phe) | gnomAD v4 |
| 18 | g.60371689G>C | CA402719336 | MC4R | c.661C>G (p.Leu221Val) | |
| 18 | g.60371689G>T | CA402719334 | MC4R | c.661C>A (p.Leu221Ile) | |
| 18 | g.60371690C>A | CA402719337 | MC4R | c.660G>T (p.Arg220Ser) | |
| 18 | g.60371690C= | CA2307359088 | MC4R | c.660G= (p.Arg220=) | |
| 18 | g.60371690C>G | CA8980871 | MC4R | c.660G>C (p.Arg220Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.60371690C>T | CA504305487 | MC4R | c.660G>A (p.Arg220=) | |
| 18 | g.60371691C>A | CA402719338 | MC4R | c.659G>T (p.Arg220Met) | |
| 18 | g.60371691C= | CA2307359089 | MC4R | c.659G= (p.Arg220=) | |
| 18 | g.60371691C>G | CA402719339 | MC4R | c.659G>C (p.Arg220Thr) | |
| 18 | g.60371691C>T | CA402719340 | MC4R | c.659G>A (p.Arg220Lys) | dbSNP |
| 18 | g.60371692T>A | CA402719341 | MC4R | c.658A>T (p.Arg220Trp) | |
| 18 | g.60371692T>C | CA402719342 | MC4R | c.658A>G (p.Arg220Gly) | |
| 18 | g.60371692T>G | CA504305488 | MC4R | c.658A>C (p.Arg220=) | |
| 18 | g.60371693G>A | CA504305489 | MC4R | c.657C>T (p.Ala219=) | |
| 18 | g.60371693G>C | CA504305490 | MC4R | c.657C>G (p.Ala219=) | |
| 18 | g.60371693G>T | CA504305491 | MC4R | c.657C>A (p.Ala219=) | |
| 18 | g.60371694G>A | CA210726 | MC4R | c.656C>T (p.Ala219Val) | ClinVar dbSNP gnomAD v2 |
| 18 | g.60371694G>C | CA402719343 | MC4R | c.656C>G (p.Ala219Gly) | |
| 18 | g.60371694G= | CA2307359090 | MC4R | c.656C= (p.Ala219=) | |
| 18 | g.60371694G>T | CA402719344 | MC4R | c.656C>A (p.Ala219Asp) | |
| 18 | g.60371695C>A | CA402719345 | MC4R | c.655G>T (p.Ala219Ser) | ClinVar dbSNP gnomAD v4 |
| 18 | g.60371695C= | CA2307359091 | MC4R | c.655G= (p.Ala219=) | |
| 18 | g.60371695C>G | CA402719346 | MC4R | c.655G>C (p.Ala219Pro) | |
| 18 | g.60371695C>T | CA402719347 | MC4R | c.655G>A (p.Ala219Thr) | dbSNP gnomAD v4 COSMIC |
| 18 | g.60371696C>A | CA402719350 | MC4R | c.654G>T (p.Met218Ile) | COSMIC |
| 18 | g.60371696C= | CA2307359092 | MC4R | c.654G= (p.Met218=) | |
| 18 | g.60371696C>G | CA402719349 | MC4R | c.654G>C (p.Met218Ile) | |
| 18 | g.60371696C>T | CA402719348 | MC4R | c.654G>A (p.Met218Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.60371697A= | CA2307359093 | MC4R | c.653T= (p.Met218=) | |
| 18 | g.60371697A>C | CA402719351 | MC4R | c.653T>G (p.Met218Arg) | |
| 18 | g.60371697A>G | CA8980872 | MC4R | c.653T>C (p.Met218Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371697A>T | CA402719352 | MC4R | c.653T>A (p.Met218Lys) | dbSNP gnomAD v4 |
| 18 | g.60371698T>A | CA402719353 | MC4R | c.652A>T (p.Met218Leu) | |
| 18 | g.60371698T>C | CA402719354 | MC4R | c.652A>G (p.Met218Val) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.60371698T>G | CA402719355 | MC4R | c.652A>C (p.Met218Leu) | |
| 18 | g.60371698T= | CA2307359094 | MC4R | c.652A= (p.Met218=) | |
| 18 | g.60371699C>A | CA504305492 | MC4R | c.651G>T (p.Leu217=) | |
| 18 | g.60371699C>G | CA504305493 | MC4R | c.651G>C (p.Leu217=) | |
| 18 | g.60371699C>T | CA504305494 | MC4R | c.651G>A (p.Leu217=) | |
| 18 | g.60371700A>C | CA402719356 | MC4R | c.650T>G (p.Leu217Arg) | |
| 18 | g.60371700A>G | CA402719357 | MC4R | c.650T>C (p.Leu217Pro) | gnomAD v4 |
| 18 | g.60371700A>T | CA402719358 | MC4R | c.650T>A (p.Leu217Gln) | |
| 18 | g.60371701G>A | CA8980873 | MC4R | c.649C>T (p.Leu217=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371701G>C | CA402719359 | MC4R | c.649C>G (p.Leu217Val) | gnomAD v4 |
| 18 | g.60371701G= | CA2307359095 | MC4R | c.649C= (p.Leu217=) | |
| 18 | g.60371701G>T | CA402719360 | MC4R | c.649C>A (p.Leu217Met) | |
| 18 | g.60371702del | CA2543124849 | MC4R | c.649del (p.Leu217Ter) | |
| 18 | g.60371702G>A | CA504305495 | MC4R | c.648C>T (p.Phe216=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 18 | g.60371702G>C | CA402719361 | MC4R | c.648C>G (p.Phe216Leu) | |
| 18 | g.60371702G= | CA2307359096 | MC4R | c.648C= (p.Phe216=) | |
| 18 | g.60371702G>T | CA402719362 | MC4R | c.648C>A (p.Phe216Leu) | gnomAD v4 |