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.60372119T>A | CA504305326 | MC4R | c.231A>T (p.Ser77=) | |
| 18 | g.60372119T>C | CA504305329 | MC4R | c.231A>G (p.Ser77=) | |
| 18 | g.60372119T>G | CA504305330 | MC4R | c.231A>C (p.Ser77=) | |
| 18 | g.60372120G>A | CA402720260 | MC4R | c.230C>T (p.Ser77Leu) | dbSNP gnomAD v4 |
| 18 | g.60372120G>C | CA402720259 | MC4R | c.230C>G (p.Ser77Ter) | |
| 18 | g.60372120G= | CA2307359300 | MC4R | c.230C= (p.Ser77=) | |
| 18 | g.60372120G>T | CA402720258 | MC4R | c.230C>A (p.Ser77Ter) | COSMIC |
| 18 | g.60372121A>C | CA402720261 | MC4R | c.229T>G (p.Ser77Ala) | |
| 18 | g.60372121A>G | CA402720262 | MC4R | c.229T>C (p.Ser77Pro) | |
| 18 | g.60372121A>T | CA402720263 | MC4R | c.229T>A (p.Ser77Thr) | |
| 18 | g.60372122A>C | CA402720264 | MC4R | c.228T>G (p.His76Gln) | |
| 18 | g.60372122A>G | CA504305339 | MC4R | c.228T>C (p.His76=) | |
| 18 | g.60372122A>T | CA402720265 | MC4R | c.228T>A (p.His76Gln) | |
| 18 | g.60372123T>A | CA402720266 | MC4R | c.227A>T (p.His76Leu) | |
| 18 | g.60372123T>C | CA8980958 | MC4R | c.227A>G (p.His76Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60372123T>G | CA402720267 | MC4R | c.227A>C (p.His76Pro) | |
| 18 | g.60372123T= | CA2307359301 | MC4R | c.227A= (p.His76=) | |
| 18 | g.60372124G>A | CA402720268 | MC4R | c.226C>T (p.His76Tyr) | dbSNP |
| 18 | g.60372124G>C | CA402720269 | MC4R | c.226C>G (p.His76Asp) | |
| 18 | g.60372124G= | CA2307359302 | MC4R | c.226C= (p.His76=) | |
| 18 | g.60372124G>T | CA402720270 | MC4R | c.226C>A (p.His76Asn) | |
| 18 | g.60372125C>A | CA504305345 | MC4R | c.225G>T (p.Leu75=) | |
| 18 | g.60372125C>G | CA504305347 | MC4R | c.225G>C (p.Leu75=) | |
| 18 | g.60372125C>T | CA504305346 | MC4R | c.225G>A (p.Leu75=) | |
| 18 | g.60372126A>C | CA402720272 | MC4R | c.224T>G (p.Leu75Arg) | |
| 18 | g.60372126A>G | CA402720273 | MC4R | c.224T>C (p.Leu75Pro) | |
| 18 | g.60372126A>T | CA402720271 | MC4R | c.224T>A (p.Leu75Gln) | |
| 18 | g.60372127G>A | CA504305348 | MC4R | c.223C>T (p.Leu75=) | dbSNP |
| 18 | g.60372127G>C | CA402720274 | MC4R | c.223C>G (p.Leu75Val) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.60372127G= | CA2307359303 | MC4R | c.223C= (p.Leu75=) | |
| 18 | g.60372127G>T | CA402720275 | MC4R | c.223C>A (p.Leu75Met) | |
| 18 | g.60372128A>C | CA402720276 | MC4R | c.222T>G (p.Asn74Lys) | |
| 18 | g.60372128A>G | CA504305350 | MC4R | c.222T>C (p.Asn74=) | |
| 18 | g.60372128A>T | CA402720277 | MC4R | c.222T>A (p.Asn74Lys) | |
| 18 | g.60372128_60372129delinsGA | CA2695227738 | MC4R | c.221_222delinsTC (p.Asn74Ile) | |
| 18 | g.60372129T>A | CA402720278 | MC4R | c.221A>T (p.Asn74Ile) | ClinVar |
| 18 | g.60372129T>C | CA402720279 | MC4R | c.221A>G (p.Asn74Ser) | |
| 18 | g.60372129T>G | CA402720280 | MC4R | c.221A>C (p.Asn74Thr) | |
| 18 | g.60372130T>A | CA402720281 | MC4R | c.220A>T (p.Asn74Tyr) | |
| 18 | g.60372130T>C | CA402720282 | MC4R | c.220A>G (p.Asn74Asp) | |
| 18 | g.60372130T>G | CA402720283 | MC4R | c.220A>C (p.Asn74His) | |
| 18 | g.60372131C>A | CA402720284 | MC4R | c.219G>T (p.Lys73Asn) | gnomAD v4 COSMIC |
| 18 | g.60372131C= | CA2307359304 | MC4R | c.219G= (p.Lys73=) | |
| 18 | g.60372131C>G | CA402720285 | MC4R | c.219G>C (p.Lys73Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60372131C>T | CA504305358 | MC4R | c.219G>A (p.Lys73=) | gnomAD v4 |
| 18 | g.60372132T>A | CA402720287 | MC4R | c.218A>T (p.Lys73Met) | |
| 18 | g.60372132T>C | CA8980959 | MC4R | c.218A>G (p.Lys73Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.60372132T>G | CA402720286 | MC4R | c.218A>C (p.Lys73Thr) | COSMIC |
| 18 | g.60372132T= | CA2307359305 | MC4R | c.218A= (p.Lys73=) | |
| 18 | g.60372133T>A | CA402720288 | MC4R | c.217A>T (p.Lys73Ter) | |
| 18 | g.60372133T>C | CA402720289 | MC4R | c.217A>G (p.Lys73Glu) | COSMIC |
| 18 | g.60372133T>G | CA402720290 | MC4R | c.217A>C (p.Lys73Gln) | |
| 18 | g.60372134G>A | CA301530053 | MC4R | c.216C>T (p.Asn72=) | dbSNP |
| 18 | g.60372134G>C | CA402720291 | MC4R | c.216C>G (p.Asn72Lys) | dbSNP |
| 18 | g.60372134G= | CA2307359306 | MC4R | c.216C= (p.Asn72=) | |
| 18 | g.60372134G>T | CA402720292 | MC4R | c.216C>A (p.Asn72Lys) | |
| 18 | g.60372135T>A | CA402720293 | MC4R | c.215A>T (p.Asn72Ile) | |
| 18 | g.60372135T>C | CA8980960 | MC4R | c.215A>G (p.Asn72Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60372135T>G | CA402720294 | MC4R | c.215A>C (p.Asn72Thr) | |
| 18 | g.60372135T= | CA2307359307 | MC4R | c.215A= (p.Asn72=) | |
| 18 | g.60372136T>A | CA402720295 | MC4R | c.214A>T (p.Asn72Tyr) | |
| 18 | g.60372136T>C | CA402720296 | MC4R | c.214A>G (p.Asn72Asp) | |
| 18 | g.60372136T>G | CA402720297 | MC4R | c.214A>C (p.Asn72His) | |
| 18 | g.60372137C>A | CA402720298 | MC4R | c.213G>T (p.Lys71Asn) | |
| 18 | g.60372137C>G | CA402720299 | MC4R | c.213G>C (p.Lys71Asn) | |
| 18 | g.60372137C>T | CA504305369 | MC4R | c.213G>A (p.Lys71=) | |
| 18 | g.60372138T>A | CA402720301 | MC4R | c.212A>T (p.Lys71Met) | |
| 18 | g.60372138T>C | CA8980961 | MC4R | c.212A>G (p.Lys71Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.60372138T>G | CA402720300 | MC4R | c.212A>C (p.Lys71Thr) | |
| 18 | g.60372138T= | CA2307359308 | MC4R | c.212A= (p.Lys71=) | |
| 18 | g.60372139T>A | CA402720304 | MC4R | c.211A>T (p.Lys71Ter) | |
| 18 | g.60372139T>C | CA402720302 | MC4R | c.211A>G (p.Lys71Glu) | |
| 18 | g.60372139T>G | CA402720303 | MC4R | c.211A>C (p.Lys71Gln) | |
| 18 | g.60372140G>A | CA504305372 | MC4R | c.210C>T (p.Ala70=) | gnomAD v4 |
| 18 | g.60372140G>C | CA504305374 | MC4R | c.210C>G (p.Ala70=) | |
| 18 | g.60372140G= | CA2307359309 | MC4R | c.210C= (p.Ala70=) | |
| 18 | g.60372140G>T | CA8980962 | MC4R | c.210C>A (p.Ala70=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.60372141G>A | CA402720305 | MC4R | c.209C>T (p.Ala70Val) | dbSNP COSMIC |
| 18 | g.60372141G>C | CA402720306 | MC4R | c.209C>G (p.Ala70Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.60372141G= | CA2307359310 | MC4R | c.209C= (p.Ala70=) | |
| 18 | g.60372141G>T | CA402720307 | MC4R | c.209C>A (p.Ala70Asp) | |
| 18 | g.60372142C>A | CA402720308 | MC4R | c.208G>T (p.Ala70Ser) | |
| 18 | g.60372142C>G | CA402720309 | MC4R | c.208G>C (p.Ala70Pro) | |
| 18 | g.60372142C>T | CA402720310 | MC4R | c.208G>A (p.Ala70Thr) | dbSNP gnomAD v4 |
| 18 | g.60372143T>A | CA504305381 | MC4R | c.207A>T (p.Ile69=) | |
| 18 | g.60372143T>C | CA402720311 | MC4R | c.207A>G (p.Ile69Met) | |
| 18 | g.60372143T>G | CA504305382 | MC4R | c.207A>C (p.Ile69=) | |
| 18 | g.60372144A= | CA2307359311 | MC4R | c.206T= (p.Ile69=) | |
| 18 | g.60372144A>C | CA209140 | MC4R | c.206T>G (p.Ile69Arg) | ClinVar dbSNP |
| 18 | g.60372144A>G | CA8980963 | MC4R | c.206T>C (p.Ile69Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.60372144A>T | CA402720312 | MC4R | c.206T>A (p.Ile69Lys) | |
| 18 | g.60372145T>A | CA402720313 | MC4R | c.205A>T (p.Ile69Leu) | |
| 18 | g.60372145T>C | CA402720315 | MC4R | c.205A>G (p.Ile69Val) | |
| 18 | g.60372145T>G | CA402720314 | MC4R | c.205A>C (p.Ile69Leu) | |
| 18 | g.60372146dup | CA2576516486 | MC4R | c.205dup (p.Ile69AsnfsTer22) | |
| 18 | g.60372146T>A | CA504305388 | MC4R | c.204A>T (p.Ala68=) | |
| 18 | g.60372146T>C | CA8980964 | MC4R | c.204A>G (p.Ala68=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.60372146T>G | CA504305387 | MC4R | c.204A>C (p.Ala68=) | |
| 18 | g.60372146T= | CA2307359312 | MC4R | c.204A= (p.Ala68=) | |
| 18 | g.60372147G>A | CA402720316 | MC4R | c.203C>T (p.Ala68Val) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.60372147G>C | CA402720317 | MC4R | c.203C>G (p.Ala68Gly) | |
| 18 | g.60372147G= | CA2307359313 | MC4R | c.203C= (p.Ala68=) | |
| 18 | g.60372147G>T | CA402720318 | MC4R | c.203C>A (p.Ala68Glu) | |
| 18 | g.60372148C>A | CA402720319 | MC4R | c.202G>T (p.Ala68Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60372148C= | CA2307359314 | MC4R | c.202G= (p.Ala68=) | |
| 18 | g.60372148C>G | CA402720320 | MC4R | c.202G>C (p.Ala68Pro) | |
| 18 | g.60372148C>T | CA402720321 | MC4R | c.202G>A (p.Ala68Thr) | gnomAD v4 COSMIC |
| 18 | g.60372149C>A | CA504305396 | MC4R | c.201G>T (p.Val67=) | |
| 18 | g.60372149C= | CA2307359315 | MC4R | c.201G= (p.Val67=) | |
| 18 | g.60372149C>G | CA504305394 | MC4R | c.201G>C (p.Val67=) | |
| 18 | g.60372149C>T | CA10648047 | MC4R | c.201G>A (p.Val67=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.60372150A= | CA2307359316 | MC4R | c.200T= (p.Val67=) | |
| 18 | g.60372150A>C | CA402720322 | MC4R | c.200T>G (p.Val67Gly) | gnomAD v4 |
| 18 | g.60372150A>G | CA402720323 | MC4R | c.200T>C (p.Val67Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60372150A>T | CA402720324 | MC4R | c.200T>A (p.Val67Glu) | |
| 18 | g.60372151C>A | CA402720326 | MC4R | c.199G>T (p.Val67Leu) | |
| 18 | g.60372151C>G | CA402720327 | MC4R | c.199G>C (p.Val67Leu) | |
| 18 | g.60372151C>T | CA402720325 | MC4R | c.199G>A (p.Val67Met) | |
| 18 | g.60372152A>C | CA402720328 | MC4R | c.198T>G (p.Ile66Met) | |
| 18 | g.60372152A>G | CA504305399 | MC4R | c.198T>C (p.Ile66=) | |
| 18 | g.60372152A>T | CA504305398 | MC4R | c.198T>A (p.Ile66=) | |
| 18 | g.60372153A>C | CA402720329 | MC4R | c.197T>G (p.Ile66Ser) | |
| 18 | g.60372153A>G | CA402720330 | MC4R | c.197T>C (p.Ile66Thr) | gnomAD v4 |
| 18 | g.60372153A>T | CA402720331 | MC4R | c.197T>A (p.Ile66Asn) | |
| 18 | g.60372154T>A | CA402720332 | MC4R | c.196A>T (p.Ile66Phe) | |
| 18 | g.60372154T>C | CA402720333 | MC4R | c.196A>G (p.Ile66Val) | gnomAD v4 |
| 18 | g.60372154T>G | CA402720334 | MC4R | c.196A>C (p.Ile66Leu) | |
| 18 | g.60372155C>A | CA504305406 | MC4R | c.195G>T (p.Val65=) | |
| 18 | g.60372155C>G | CA504305407 | MC4R | c.195G>C (p.Val65=) | |
| 18 | g.60372155C>T | CA504305409 | MC4R | c.195G>A (p.Val65=) | |
| 18 | g.60372156A= | CA2307359317 | MC4R | c.194T= (p.Val65=) | |
| 18 | g.60372156A>C | CA402720335 | MC4R | c.194T>G (p.Val65Gly) | |
| 18 | g.60372156A>G | CA402720336 | MC4R | c.194T>C (p.Val65Ala) | |
| 18 | g.60372156A>T | CA402720337 | MC4R | c.194T>A (p.Val65Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.60372157C>A | CA402720338 | MC4R | c.193G>T (p.Val65Leu) | |
| 18 | g.60372157C= | CA2307359318 | MC4R | c.193G= (p.Val65=) | |
| 18 | g.60372157C>G | CA402720339 | MC4R | c.193G>C (p.Val65Leu) | |
| 18 | g.60372157C>T | CA402720340 | MC4R | c.193G>A (p.Val65Met) | dbSNP gnomAD v4 |
| 18 | g.60372158T>A | CA402720342 | MC4R | c.192A>T (p.Leu64Phe) | |
| 18 | g.60372158T>C | CA504305412 | MC4R | c.192A>G (p.Leu64=) | |
| 18 | g.60372158T>G | CA402720341 | MC4R | c.192A>C (p.Leu64Phe) | gnomAD v4 |
| 18 | g.60372159A= | CA2307359319 | MC4R | c.191T= (p.Leu64=) | |
| 18 | g.60372159A>C | CA402720343 | MC4R | c.191T>G (p.Leu64Ter) | |
| 18 | g.60372159A>G | CA402720344 | MC4R | c.191T>C (p.Leu64Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.60372159A>T | CA402720345 | MC4R | c.191T>A (p.Leu64Ter) | |
| 18 | g.60372160A= | CA2307359320 | MC4R | c.190T= (p.Leu64=) | |
| 18 | g.60372160A>C | CA402720346 | MC4R | c.190T>G (p.Leu64Val) | |
| 18 | g.60372160A>G | CA504305416 | MC4R | c.190T>C (p.Leu64=) | |
| 18 | g.60372160A>T | CA8980965 | MC4R | c.190T>A (p.Leu64Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60372161G>A | CA504305419 | MC4R | c.189C>T (p.Ile63=) | |
| 18 | g.60372161G>C | CA402720347 | MC4R | c.189C>G (p.Ile63Met) | |
| 18 | g.60372161G>T | CA504305421 | MC4R | c.189C>A (p.Ile63=) | |
| 18 | g.60372162A>C | CA402720350 | MC4R | c.188T>G (p.Ile63Ser) | |
| 18 | g.60372162A>G | CA402720348 | MC4R | c.188T>C (p.Ile63Thr) | gnomAD v4 |
| 18 | g.60372162A>T | CA402720349 | MC4R | c.188T>A (p.Ile63Asn) | |
| 18 | g.60372163T>A | CA8980966 | MC4R | c.187A>T (p.Ile63Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.60372163T>C | CA402720351 | MC4R | c.187A>G (p.Ile63Val) | |
| 18 | g.60372163T>G | CA402720352 | MC4R | c.187A>C (p.Ile63Leu) | gnomAD v4 |
| 18 | g.60372163T= | CA2307359321 | MC4R | c.187A= (p.Ile63=) | |
| 18 | g.60372164A>C | CA402720353 | MC4R | c.186T>G (p.Asn62Lys) | |
| 18 | g.60372164A>G | CA504305424 | MC4R | c.186T>C (p.Asn62=) | |
| 18 | g.60372164A>T | CA402720354 | MC4R | c.186T>A (p.Asn62Lys) | |
| 18 | g.60372165T>A | CA402720355 | MC4R | c.185A>T (p.Asn62Ile) | |
| 18 | g.60372165T>C | CA210724 | MC4R | c.185A>G (p.Asn62Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60372165T>G | CA402720356 | MC4R | c.185A>C (p.Asn62Thr) | |
| 18 | g.60372165T= | CA2307359322 | MC4R | c.185A= (p.Asn62=) | |
| 18 | g.60372166T>A | CA402720357 | MC4R | c.184A>T (p.Asn62Tyr) | |
| 18 | g.60372166T>C | CA402720358 | MC4R | c.184A>G (p.Asn62Asp) | |
| 18 | g.60372166T>G | CA402720359 | MC4R | c.184A>C (p.Asn62His) | |
| 18 | g.60372167C>A | CA402720360 | MC4R | c.183G>T (p.Glu61Asp) | |
| 18 | g.60372167C= | CA2307359323 | MC4R | c.183G= (p.Glu61=) | |
| 18 | g.60372167C>G | CA402720361 | MC4R | c.183G>C (p.Glu61Asp) | |
| 18 | g.60372167C>T | CA504305430 | MC4R | c.183G>A (p.Glu61=) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.60372168T>A | CA402720362 | MC4R | c.182A>T (p.Glu61Val) | |
| 18 | g.60372168T>C | CA402720363 | MC4R | c.182A>G (p.Glu61Gly) | |
| 18 | g.60372168T>G | CA402720364 | MC4R | c.182A>C (p.Glu61Ala) | |
| 18 | g.60372169C>A | CA402720365 | MC4R | c.181G>T (p.Glu61Ter) | |
| 18 | g.60372169C= | CA2307359324 | MC4R | c.181G= (p.Glu61=) | |
| 18 | g.60372169C>G | CA402720366 | MC4R | c.181G>C (p.Glu61Gln) | |
| 18 | g.60372169C>T | CA8980967 | MC4R | c.181G>A (p.Glu61Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60372170C>A | CA402720367 | MC4R | c.180G>T (p.Leu60Phe) | dbSNP |
| 18 | g.60372170C= | CA2307359325 | MC4R | c.180G= (p.Leu60=) | |
| 18 | g.60372170C>G | CA402720368 | MC4R | c.180G>C (p.Leu60Phe) | |
| 18 | g.60372170C>T | CA504305431 | MC4R | c.180G>A (p.Leu60=) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.60372171A>C | CA402720371 | MC4R | c.179T>G (p.Leu60Trp) | |
| 18 | g.60372171A>G | CA402720370 | MC4R | c.179T>C (p.Leu60Ser) | |
| 18 | g.60372171A>T | CA402720369 | MC4R | c.179T>A (p.Leu60Ter) | |
| 18 | g.60372172A>C | CA402720372 | MC4R | c.178T>G (p.Leu60Val) | |
| 18 | g.60372172A>G | CA504305433 | MC4R | c.178T>C (p.Leu60=) | |
| 18 | g.60372172A>T | CA402720373 | MC4R | c.178T>A (p.Leu60Met) | |
| 18 | g.60372173C>A | CA402720374 | MC4R | c.177G>T (p.Leu59Phe) | dbSNP |
| 18 | g.60372173C= | CA2307359326 | MC4R | c.177G= (p.Leu59=) | |
| 18 | g.60372173C>G | CA402720375 | MC4R | c.177G>C (p.Leu59Phe) | |
| 18 | g.60372173C>T | CA504305435 | MC4R | c.177G>A (p.Leu59=) | gnomAD v4 |
| 18 | g.60372174A= | CA2307359327 | MC4R | c.176T= (p.Leu59=) | |
| 18 | g.60372174A>C | CA402720376 | MC4R | c.176T>G (p.Leu59Trp) | |
| 18 | g.60372174A>G | CA402720377 | MC4R | c.176T>C (p.Leu59Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60372174A>T | CA402720378 | MC4R | c.176T>A (p.Leu59Ter) | |
| 18 | g.60372175A>C | CA402720379 | MC4R | c.175T>G (p.Leu59Val) | |
| 18 | g.60372175A>G | CA504305440 | MC4R | c.175T>C (p.Leu59=) | |
| 18 | g.60372175A>T | CA402720380 | MC4R | c.175T>A (p.Leu59Met) | |
| 18 | g.60372176G>A | CA504305441 | MC4R | c.174C>T (p.Ser58=) | |
| 18 | g.60372176G>C | CA402720381 | MC4R | c.174C>G (p.Ser58Arg) | |
| 18 | g.60372176G>T | CA402720382 | MC4R | c.174C>A (p.Ser58Arg) | |
| 18 | g.60372177C>A | CA402720383 | MC4R | c.173G>T (p.Ser58Ile) | |
| 18 | g.60372177C>G | CA402720384 | MC4R | c.173G>C (p.Ser58Thr) | |
| 18 | g.60372177C>T | CA402720385 | MC4R | c.173G>A (p.Ser58Asn) | |
| 18 | g.60372178T>A | CA210714 | MC4R | c.172A>T (p.Ser58Cys) | ClinVar dbSNP gnomAD v4 |
| 18 | g.60372178T>C | CA402720387 | MC4R | c.172A>G (p.Ser58Gly) | COSMIC |
| 18 | g.60372178T>G | CA402720386 | MC4R | c.172A>C (p.Ser58Arg) | |
| 18 | g.60372178T= | CA2307359328 | MC4R | c.172A= (p.Ser58=) | |
| 18 | g.60372178_60372179delinsTG | CA2307359329 | MC4R | c.171_172delinsCA (p.Ile57=) | |
| 18 | g.60372179del | CA8980968 | MC4R | c.171del (p.Ser58AlafsTer7) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.60372179G>A | CA504305445 | MC4R | c.171C>T (p.Ile57=) | |
| 18 | g.60372179G>C | CA402720388 | MC4R | c.171C>G (p.Ile57Met) | |
| 18 | g.60372179G>T | CA504305444 | MC4R | c.171C>A (p.Ile57=) | |
| 18 | g.60372180A>C | CA402720389 | MC4R | c.170T>G (p.Ile57Ser) | |
| 18 | g.60372180A>G | CA402720390 | MC4R | c.170T>C (p.Ile57Thr) | |
| 18 | g.60372180A>T | CA402720391 | MC4R | c.170T>A (p.Ile57Asn) | |
| 18 | g.60372181T>A | CA402720392 | MC4R | c.169A>T (p.Ile57Phe) | |
| 18 | g.60372181T>C | CA402720393 | MC4R | c.169A>G (p.Ile57Val) | |
| 18 | g.60372181T>G | CA8980969 | MC4R | c.169A>C (p.Ile57Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.60372181T= | CA2307359330 | MC4R | c.169A= (p.Ile57=) | |
| 18 | g.60372182G>A | CA8980970 | MC4R | c.168C>T (p.Val56=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.60372182G>C | CA504305500 | MC4R | c.168C>G (p.Val56=) | |
| 18 | g.60372182G= | CA2307359331 | MC4R | c.168C= (p.Val56=) | |
| 18 | g.60372182G>T | CA504305501 | MC4R | c.168C>A (p.Val56=) | |
| 18 | g.60372182dup | CA2642029306 | MC4R | c.168dup (p.Ile57HisfsTer?) | gnomAD v4 |
| 18 | g.60372183A= | CA2307359332 | MC4R | c.167T= (p.Val56=) | |
| 18 | g.60372183A>C | CA402720394 | MC4R | c.167T>G (p.Val56Gly) | |
| 18 | g.60372183A>G | CA301530054 | MC4R | c.167T>C (p.Val56Ala) | dbSNP |
| 18 | g.60372183A>T | CA402720395 | MC4R | c.167T>A (p.Val56Asp) | |
| 18 | g.60372184C>A | CA402720396 | MC4R | c.166G>T (p.Val56Phe) | |
| 18 | g.60372184C>G | CA402720397 | MC4R | c.166G>C (p.Val56Leu) | |
| 18 | g.60372184C>T | CA402720398 | MC4R | c.166G>A (p.Val56Ile) | |
| 18 | g.60372185A>C | CA504305502 | MC4R | c.165T>G (p.Gly55=) | |
| 18 | g.60372185A>G | CA504305503 | MC4R | c.165T>C (p.Gly55=) | gnomAD v4 |
| 18 | g.60372185A>T | CA504305504 | MC4R | c.165T>A (p.Gly55=) | |
| 18 | g.60372186C>A | CA402720399 | MC4R | c.164G>T (p.Gly55Val) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.60372186C= | CA2307359333 | MC4R | c.164G= (p.Gly55=) | |
| 18 | g.60372186C>G | CA402720401 | MC4R | c.164G>C (p.Gly55Ala) | |
| 18 | g.60372186C>T | CA402720400 | MC4R | c.164G>A (p.Gly55Asp) | dbSNP |
| 18 | g.60372187C>A | CA8980971 | MC4R | c.163G>T (p.Gly55Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.60372187C= | CA2307359334 | MC4R | c.163G= (p.Gly55=) | |
| 18 | g.60372187C>G | CA402720402 | MC4R | c.163G>C (p.Gly55Arg) | |
| 18 | g.60372187C>T | CA402720403 | MC4R | c.163G>A (p.Gly55Ser) | dbSNP |
| 18 | g.60372188C>A | CA504305505 | MC4R | c.162G>T (p.Leu54=) | |
| 18 | g.60372188C>G | CA504305507 | MC4R | c.162G>C (p.Leu54=) | gnomAD v4 |
| 18 | g.60372188C>T | CA504305509 | MC4R | c.162G>A (p.Leu54=) | |
| 18 | g.60372189A= | CA2307359335 | MC4R | c.161T= (p.Leu54=) | |
| 18 | g.60372189A>C | CA402720404 | MC4R | c.161T>G (p.Leu54Arg) | |
| 18 | g.60372189A>G | CA8980972 | MC4R | c.161T>C (p.Leu54Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60372189A>T | CA402720405 | MC4R | c.161T>A (p.Leu54Gln) | |
| 18 | g.60372190G>A | CA504305511 | MC4R | c.160C>T (p.Leu54=) | |
| 18 | g.60372190G>C | CA402720406 | MC4R | c.160C>G (p.Leu54Val) | |
| 18 | g.60372190G>T | CA402720407 | MC4R | c.160C>A (p.Leu54Met) | |
| 18 | g.60372191A>C | CA504305512 | MC4R | c.159T>G (p.Thr53=) | |
| 18 | g.60372191A>G | CA504305513 | MC4R | c.159T>C (p.Thr53=) | |
| 18 | g.60372191A>T | CA504305515 | MC4R | c.159T>A (p.Thr53=) | |
| 18 | g.60372192G>A | CA8980973 | MC4R | c.158C>T (p.Thr53Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60372192G>C | CA402720408 | MC4R | c.158C>G (p.Thr53Ser) | |
| 18 | g.60372192G= | CA2307359336 | MC4R | c.158C= (p.Thr53=) | |
| 18 | g.60372192G>T | CA402720409 | MC4R | c.158C>A (p.Thr53Asn) | |
| 18 | g.60372193T>A | CA402720412 | MC4R | c.157A>T (p.Thr53Ser) | |
| 18 | g.60372193T>C | CA402720410 | MC4R | c.157A>G (p.Thr53Ala) | |
| 18 | g.60372193T>G | CA402720411 | MC4R | c.157A>C (p.Thr53Pro) | |
| 18 | g.60372194C>A | CA504305518 | MC4R | c.156G>T (p.Val52=) | |
| 18 | g.60372194C>G | CA504305519 | MC4R | c.156G>C (p.Val52=) | |
| 18 | g.60372194C>T | CA504305520 | MC4R | c.156G>A (p.Val52=) | gnomAD v4 |
| 18 | g.60372195A= | CA2307359337 | MC4R | c.155T= (p.Val52=) | |
| 18 | g.60372195A>C | CA402720413 | MC4R | c.155T>G (p.Val52Gly) | |
| 18 | g.60372195A>G | CA402720415 | MC4R | c.155T>C (p.Val52Ala) | dbSNP |
| 18 | g.60372195A>T | CA402720414 | MC4R | c.155T>A (p.Val52Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.60372196C>A | CA402720416 | MC4R | c.154G>T (p.Val52Leu) | |
| 18 | g.60372196C>G | CA402720417 | MC4R | c.154G>C (p.Val52Leu) | gnomAD v4 |
| 18 | g.60372196C>T | CA402720418 | MC4R | c.154G>A (p.Val52Met) | gnomAD v4 |
| 18 | g.60372197A>C | CA402720419 | MC4R | c.153T>G (p.Phe51Leu) | |
| 18 | g.60372197A>G | CA504305524 | MC4R | c.153T>C (p.Phe51=) | |
| 18 | g.60372197A>T | CA402720420 | MC4R | c.153T>A (p.Phe51Leu) | |
| 18 | g.60372198A>C | CA402720421 | MC4R | c.152T>G (p.Phe51Cys) | gnomAD v4 |
| 18 | g.60372198A>G | CA402720422 | MC4R | c.152T>C (p.Phe51Ser) | |
| 18 | g.60372198A>T | CA402720423 | MC4R | c.152T>A (p.Phe51Tyr) | |
| 18 | g.60372199A= | CA2307359338 | MC4R | c.151T= (p.Phe51=) | |
| 18 | g.60372199A>C | CA402720424 | MC4R | c.151T>G (p.Phe51Val) | |
| 18 | g.60372199A>G | CA301530055 | MC4R | c.151T>C (p.Phe51Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.60372199A>T | CA402720425 | MC4R | c.151T>A (p.Phe51Ile) | |
| 18 | g.60372200C>A | CA504305525 | MC4R | c.150G>T (p.Val50=) | |
| 18 | g.60372200C>G | CA504305526 | MC4R | c.150G>C (p.Val50=) | |
| 18 | g.60372200C>T | CA504305527 | MC4R | c.150G>A (p.Val50=) | |
| 18 | g.60372201A>C | CA402720428 | MC4R | c.149T>G (p.Val50Gly) | |
| 18 | g.60372201A>G | CA402720426 | MC4R | c.149T>C (p.Val50Ala) | |
| 18 | g.60372201A>T | CA402720427 | MC4R | c.149T>A (p.Val50Glu) | |
| 18 | g.60372202C>A | CA402720429 | MC4R | c.148G>T (p.Val50Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.60372202C= | CA2307359339 | MC4R | c.148G= (p.Val50=) | |
| 18 | g.60372202C>G | CA402720430 | MC4R | c.148G>C (p.Val50Leu) | |
| 18 | g.60372202C>T | CA210713 | MC4R | c.148G>A (p.Val50Met) | ClinVar dbSNP |
| 18 | g.60372202_60372203insACCCAA | CA2812704166 | MC4R | c.147_148insTTGGGT (p.Glu49_Val50insLeuGly) | |
| 18 | g.60372202_60372203insAACCAAACACACCCAA | CA2812704165 | MC4R | c.147_148insTTGGGTGTGTTTGGTT (p.Val50LeufsTer?) | |
| 18 | g.60372203C>A | CA402720431 | MC4R | c.147G>T (p.Glu49Asp) | |
| 18 | g.60372203C>G | CA402720432 | MC4R | c.147G>C (p.Glu49Asp) | |
| 18 | g.60372203C>T | CA504305531 | MC4R | c.147G>A (p.Glu49=) | |
| 18 | g.60372203_60372204insAAACACACCCAAC | CA2812704167 | MC4R | c.147_148insTTGGGTGTGTTTG (p.Val50LeufsTer?) | |
| 18 | g.60372204T>A | CA402720433 | MC4R | c.146A>T (p.Glu49Val) | |
| 18 | g.60372204T>C | CA402720434 | MC4R | c.146A>G (p.Glu49Gly) | |
| 18 | g.60372204T>G | CA402720435 | MC4R | c.146A>C (p.Glu49Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.60372204T= | CA2307359340 | MC4R | c.146A= (p.Glu49=) | |
| 18 | g.60372205C>A | CA402720436 | MC4R | c.145G>T (p.Glu49Ter) | |
| 18 | g.60372205C>G | CA402720437 | MC4R | c.145G>C (p.Glu49Gln) | |
| 18 | g.60372205C>T | CA402720438 | MC4R | c.145G>A (p.Glu49Lys) | |
| 18 | g.60372206A>C | CA504305535 | MC4R | c.144T>G (p.Pro48=) | |
| 18 | g.60372206A>G | CA504305536 | MC4R | c.144T>C (p.Pro48=) | |
| 18 | g.60372206A>T | CA504305537 | MC4R | c.144T>A (p.Pro48=) | |
| 18 | g.60372207G>A | CA8980974 | MC4R | c.143C>T (p.Pro48Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.60372207G>C | CA402720440 | MC4R | c.143C>G (p.Pro48Arg) | |
| 18 | g.60372207G= | CA2307359341 | MC4R | c.143C= (p.Pro48=) | |
| 18 | g.60372207G>T | CA402720439 | MC4R | c.143C>A (p.Pro48His) | |
| 18 | g.60372208G>A | CA402720443 | MC4R | c.142C>T (p.Pro48Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.60372208G>C | CA402720441 | MC4R | c.142C>G (p.Pro48Ala) | |
| 18 | g.60372208G= | CA2307359342 | MC4R | c.142C= (p.Pro48=) | |
| 18 | g.60372208G>T | CA402720442 | MC4R | c.142C>A (p.Pro48Thr) | |
| 18 | g.60372209A= | CA2307359343 | MC4R | c.141T= (p.Ser47=) | |
| 18 | g.60372209A>C | CA504305544 | MC4R | c.141T>G (p.Ser47=) | |
| 18 | g.60372209A>G | CA504305542 | MC4R | c.141T>C (p.Ser47=) | dbSNP |
| 18 | g.60372209A>T | CA504305541 | MC4R | c.141T>A (p.Ser47=) | |
| 18 | g.60372210G>A | CA402720444 | MC4R | c.140C>T (p.Ser47Phe) | |
| 18 | g.60372210G>C | CA402720445 | MC4R | c.140C>G (p.Ser47Cys) | |
| 18 | g.60372210G>T | CA402720446 | MC4R | c.140C>A (p.Ser47Tyr) | |
| 18 | g.60372211A>C | CA402720447 | MC4R | c.139T>G (p.Ser47Ala) | |
| 18 | g.60372211A>G | CA402720448 | MC4R | c.139T>C (p.Ser47Pro) | |
| 18 | g.60372211A>T | CA402720449 | MC4R | c.139T>A (p.Ser47Thr) | |
| 18 | g.60372212G>A | CA504305545 | MC4R | c.138C>T (p.Val46=) | |
| 18 | g.60372212G>C | CA504305546 | MC4R | c.138C>G (p.Val46=) | |
| 18 | g.60372212G>T | CA504305547 | MC4R | c.138C>A (p.Val46=) | |
| 18 | g.60372213A= | CA2307359344 | MC4R | c.137T= (p.Val46=) | |
| 18 | g.60372213A>C | CA402720450 | MC4R | c.137T>G (p.Val46Gly) | |
| 18 | g.60372213A>G | CA8980975 | MC4R | c.137T>C (p.Val46Ala) | dbSNP ExAC gnomAD v2 |
| 18 | g.60372213A>T | CA402720451 | MC4R | c.137T>A (p.Val46Asp) | |
| 18 | g.60372214C>A | CA402720452 | MC4R | c.136G>T (p.Val46Phe) | |
| 18 | g.60372214C= | CA2307359345 | MC4R | c.136G= (p.Val46=) | |
| 18 | g.60372214C>G | CA402720453 | MC4R | c.136G>C (p.Val46Leu) | |
| 18 | g.60372214C>T | CA402720454 | MC4R | c.136G>A (p.Val46Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.60372215A>C | CA402720455 | MC4R | c.135T>G (p.Phe45Leu) | |
| 18 | g.60372215A>G | CA504305551 | MC4R | c.135T>C (p.Phe45=) | gnomAD v4 |
| 18 | g.60372215A>T | CA402720456 | MC4R | c.135T>A (p.Phe45Leu) | |
| 18 | g.60372219dup | CA2812704170 | MC4R | c.135dup (p.Val46CysfsTer4) | |
| 18 | g.60372216A>C | CA402720457 | MC4R | c.134T>G (p.Phe45Cys) | |
| 18 | g.60372216A>G | CA402720458 | MC4R | c.134T>C (p.Phe45Ser) | |
| 18 | g.60372216A>T | CA402720459 | MC4R | c.134T>A (p.Phe45Tyr) | |
| 18 | g.60372217A>C | CA402720460 | MC4R | c.133T>G (p.Phe45Val) | |
| 18 | g.60372217A>G | CA402720461 | MC4R | c.133T>C (p.Phe45Leu) | |
| 18 | g.60372217A>T | CA402720462 | MC4R | c.133T>A (p.Phe45Ile) | |
| 18 | g.60372218A= | CA2307359346 | MC4R | c.132T= (p.Leu44=) | |
| 18 | g.60372218A>C | CA504305553 | MC4R | c.132T>G (p.Leu44=) | |
| 18 | g.60372218A>G | CA504305554 | MC4R | c.132T>C (p.Leu44=) | dbSNP |
| 18 | g.60372218A>T | CA504305555 | MC4R | c.132T>A (p.Leu44=) | |
| 18 | g.60372219A>C | CA402720463 | MC4R | c.131T>G (p.Leu44Arg) | |
| 18 | g.60372219A>G | CA402720464 | MC4R | c.131T>C (p.Leu44Pro) | |
| 18 | g.60372219A>T | CA402720465 | MC4R | c.131T>A (p.Leu44His) |