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.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) | |
| 18 | g.60372220G>A | CA402720466 | MC4R | c.130C>T (p.Leu44Phe) | dbSNP |
| 18 | g.60372220G>C | CA402720467 | MC4R | c.130C>G (p.Leu44Val) | gnomAD v4 |
| 18 | g.60372220G= | CA2307359347 | MC4R | c.130C= (p.Leu44=) | |
| 18 | g.60372220G>T | CA402720468 | MC4R | c.130C>A (p.Leu44Ile) | |
| 18 | g.60372221T>A | CA402720470 | MC4R | c.129A>T (p.Gln43His) | |
| 18 | g.60372221T>C | CA8980976 | MC4R | c.129A>G (p.Gln43=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.60372221T>G | CA402720469 | MC4R | c.129A>C (p.Gln43His) | |
| 18 | g.60372221T= | CA2307359348 | MC4R | c.129A= (p.Gln43=) | |
| 18 | g.60372222T>A | CA402720471 | MC4R | c.128A>T (p.Gln43Leu) | |
| 18 | g.60372222T>C | CA402720473 | MC4R | c.128A>G (p.Gln43Arg) | |
| 18 | g.60372222T>G | CA402720472 | MC4R | c.128A>C (p.Gln43Pro) | |
| 18 | g.60372223G>A | CA402720474 | MC4R | c.127C>T (p.Gln43Ter) | dbSNP gnomAD v4 |
| 18 | g.60372223G>C | CA402720475 | MC4R | c.127C>G (p.Gln43Glu) | |
| 18 | g.60372223G= | CA2307359349 | MC4R | c.127C= (p.Gln43=) | |
| 18 | g.60372223G>T | CA402720476 | MC4R | c.127C>A (p.Gln43Lys) | ClinVar gnomAD v4 |
| 18 | g.60372224C>A | CA402720477 | MC4R | c.126G>T (p.Glu42Asp) | |
| 18 | g.60372224C= | CA2307359350 | MC4R | c.126G= (p.Glu42=) | |
| 18 | g.60372224C>G | CA402720478 | MC4R | c.126G>C (p.Glu42Asp) | dbSNP gnomAD v4 |
| 18 | g.60372224C>T | CA504305557 | MC4R | c.126G>A (p.Glu42=) | |
| 18 | g.60372224_60372225delinsCT | CA2307359351 | MC4R | c.125_126delinsAG (p.Glu42=) | |
| 18 | g.60372225del | CA2307359352 | MC4R | c.125del (p.Glu42GlyfsTer11) | dbSNP gnomAD v4 |
| 18 | g.60372225T>A | CA402720481 | MC4R | c.125A>T (p.Glu42Val) | |
| 18 | g.60372225T>C | CA402720480 | MC4R | c.125A>G (p.Glu42Gly) | |
| 18 | g.60372225T>G | CA402720479 | MC4R | c.125A>C (p.Glu42Ala) | |
| 18 | g.60372226C>A | CA402720482 | MC4R | c.124G>T (p.Glu42Ter) | |
| 18 | g.60372226C= | CA2307359353 | MC4R | c.124G= (p.Glu42=) | |
| 18 | g.60372226C>G | CA402720483 | MC4R | c.124G>C (p.Glu42Gln) | dbSNP |
| 18 | g.60372226C>T | CA8980977 | MC4R | c.124G>A (p.Glu42Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 18 | g.60372227G>A | CA8980978 | MC4R | c.123C>T (p.Tyr41=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 18 | g.60372227G>C | CA402720484 | MC4R | c.123C>G (p.Tyr41Ter) | |
| 18 | g.60372227G= | CA2307359354 | MC4R | c.123C= (p.Tyr41=) | |
| 18 | g.60372227G>T | CA402720485 | MC4R | c.123C>A (p.Tyr41Ter) | |
| 18 | g.60372228T>A | CA402720486 | MC4R | c.122A>T (p.Tyr41Phe) | |
| 18 | g.60372228T>C | CA402720488 | MC4R | c.122A>G (p.Tyr41Cys) | |
| 18 | g.60372228T>G | CA402720487 | MC4R | c.122A>C (p.Tyr41Ser) | |
| 18 | g.60372229A>C | CA402720489 | MC4R | c.121T>G (p.Tyr41Asp) | |
| 18 | g.60372229A>G | CA402720490 | MC4R | c.121T>C (p.Tyr41His) | gnomAD v4 |
| 18 | g.60372229A>T | CA402720491 | MC4R | c.121T>A (p.Tyr41Asn) | |
| 18 | g.60372230G>A | CA504305562 | MC4R | c.120C>T (p.Cys40=) | |
| 18 | g.60372230G>C | CA402720492 | MC4R | c.120C>G (p.Cys40Trp) | gnomAD v4 |
| 18 | g.60372230G= | CA2307359355 | MC4R | c.120C= (p.Cys40=) | |
| 18 | g.60372230G>T | CA402720493 | MC4R | c.120C>A (p.Cys40Ter) | dbSNP |
| 18 | g.60372231C>A | CA402720494 | MC4R | c.119G>T (p.Cys40Phe) | |
| 18 | g.60372231C>G | CA402720495 | MC4R | c.119G>C (p.Cys40Ser) | |
| 18 | g.60372231C>T | CA402720496 | MC4R | c.119G>A (p.Cys40Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.60372232A= | CA2307359356 | MC4R | c.118T= (p.Cys40=) | |
| 18 | g.60372232A>C | CA402720497 | MC4R | c.118T>G (p.Cys40Gly) | |
| 18 | g.60372232A>G | CA402720498 | MC4R | c.118T>C (p.Cys40Arg) | dbSNP |
| 18 | g.60372232A>T | CA402720499 | MC4R | c.118T>A (p.Cys40Ser) | |
| 18 | g.60372233C>A | CA8980979 | MC4R | c.117G>T (p.Gly39=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.60372233C= | CA2307359357 | MC4R | c.117G= (p.Gly39=) | |
| 18 | g.60372233C>G | CA504305565 | MC4R | c.117G>C (p.Gly39=) | gnomAD v4 |
| 18 | g.60372233C>T | CA8980980 | MC4R | c.117G>A (p.Gly39=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 18 | g.60372234C>A | CA402720500 | MC4R | c.116G>T (p.Gly39Val) | |
| 18 | g.60372234C= | CA2307359358 | MC4R | c.116G= (p.Gly39=) | |
| 18 | g.60372234C>G | CA402720501 | MC4R | c.116G>C (p.Gly39Ala) | |
| 18 | g.60372234C>T | CA402720502 | MC4R | c.116G>A (p.Gly39Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60372235C>A | CA402720503 | MC4R | c.115G>T (p.Gly39Trp) | |
| 18 | g.60372235C= | CA2307359359 | MC4R | c.115G= (p.Gly39=) | |
| 18 | g.60372235C>G | CA402720504 | MC4R | c.115G>C (p.Gly39Arg) | |
| 18 | g.60372235C>T | CA402720505 | MC4R | c.115G>A (p.Gly39Arg) | dbSNP gnomAD v4 |
| 18 | g.60372236T>A | CA504305567 | MC4R | c.114A>T (p.Gly38=) | |
| 18 | g.60372236T>C | CA504305570 | MC4R | c.114A>G (p.Gly38=) | |
| 18 | g.60372236T>G | CA504305568 | MC4R | c.114A>C (p.Gly38=) | |
| 18 | g.60372237C>A | CA402720508 | MC4R | c.113G>T (p.Gly38Val) | |
| 18 | g.60372237C>G | CA402720506 | MC4R | c.113G>C (p.Gly38Ala) | |
| 18 | g.60372237C>T | CA402720507 | MC4R | c.113G>A (p.Gly38Glu) | |
| 18 | g.60372238C>A | CA402720509 | MC4R | c.112G>T (p.Gly38Ter) | |
| 18 | g.60372238C= | CA2307359360 | MC4R | c.112G= (p.Gly38=) | |
| 18 | g.60372238C>G | CA402720510 | MC4R | c.112G>C (p.Gly38Arg) | |
| 18 | g.60372238C>T | CA8980981 | MC4R | c.112G>A (p.Gly38Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.60372239A>C | CA402720511 | MC4R | c.111T>G (p.Asp37Glu) | |
| 18 | g.60372239A>G | CA504305572 | MC4R | c.111T>C (p.Asp37=) | |
| 18 | g.60372239A>T | CA402720512 | MC4R | c.111T>A (p.Asp37Glu) | gnomAD v4 |
| 18 | g.60372240T>A | CA213428 | MC4R | c.110A>T (p.Asp37Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.[60372240T>A;60372245G>T] | CA1139767788 | MC4R | c.[105C>A;110A>T] (p.Tyr35Ter) | ClinVar |
| 18 | g.60372240T>C | CA402720514 | MC4R | c.110A>G (p.Asp37Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.60372240T>G | CA402720513 | MC4R | c.110A>C (p.Asp37Ala) | |
| 18 | g.60372240T= | CA2307359361 | MC4R | c.110A= (p.Asp37=) | |
| 18 | g.60372241C>A | CA402720515 | MC4R | c.109G>T (p.Asp37Tyr) | dbSNP |
| 18 | g.60372241C= | CA2307359362 | MC4R | c.109G= (p.Asp37=) | |
| 18 | g.60372241C>G | CA402720516 | MC4R | c.109G>C (p.Asp37His) | |
| 18 | g.60372241C>T | CA402720517 | MC4R | c.109G>A (p.Asp37Asn) | |
| 18 | g.60372242A>C | CA504305575 | MC4R | c.108T>G (p.Ser36=) | |
| 18 | g.60372242A>G | CA504305577 | MC4R | c.108T>C (p.Ser36=) | |
| 18 | g.60372242A>T | CA504305579 | MC4R | c.108T>A (p.Ser36=) | |
| 18 | g.60372243G>A | CA8980982 | MC4R | c.107C>T (p.Ser36Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.60372243G>C | CA402720518 | MC4R | c.107C>G (p.Ser36Cys) | |
| 18 | g.60372243G= | CA2307359363 | MC4R | c.107C= (p.Ser36=) | |
| 18 | g.60372243G>T | CA402720519 | MC4R | c.107C>A (p.Ser36Tyr) | |
| 18 | g.60372244A= | CA2307359364 | MC4R | c.106T= (p.Ser36=) | |
| 18 | g.60372244A>C | CA402720520 | MC4R | c.106T>G (p.Ser36Ala) | |
| 18 | g.60372244A>G | CA402720521 | MC4R | c.106T>C (p.Ser36Pro) | gnomAD v4 |
| 18 | g.60372244A>T | CA301530056 | MC4R | c.106T>A (p.Ser36Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60372245G>A | CA504305581 | MC4R | c.105C>T (p.Tyr35=) | |
| 18 | g.60372245G>C | CA402720522 | MC4R | c.105C>G (p.Tyr35Ter) | |
| 18 | g.60372245G= | CA2307359365 | MC4R | c.105C= (p.Tyr35=) | |
| 18 | g.60372245G>T | CA214751 | MC4R | c.105C>A (p.Tyr35Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60372246T>A | CA402720523 | MC4R | c.104A>T (p.Tyr35Phe) | |
| 18 | g.60372246T>C | CA8980983 | MC4R | c.104A>G (p.Tyr35Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60372246T>G | CA402720524 | MC4R | c.104A>C (p.Tyr35Ser) | |
| 18 | g.60372246T= | CA2307359366 | MC4R | c.104A= (p.Tyr35=) | |
| 18 | g.60372247A= | CA2307359367 | MC4R | c.103T= (p.Tyr35=) | |
| 18 | g.60372247A>C | CA402720525 | MC4R | c.103T>G (p.Tyr35Asp) | |
| 18 | g.60372247A>G | CA402720527 | MC4R | c.103T>C (p.Tyr35His) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.60372247A>T | CA402720526 | MC4R | c.103T>A (p.Tyr35Asn) | |
| 18 | g.60372248G>A | CA504305585 | MC4R | c.102C>T (p.Gly34=) | |
| 18 | g.60372248G>C | CA8980984 | MC4R | c.102C>G (p.Gly34=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.60372248G= | CA2307359368 | MC4R | c.102C= (p.Gly34=) | |
| 18 | g.60372248G>T | CA504305586 | MC4R | c.102C>A (p.Gly34=) | |
| 18 | g.60372249C>A | CA402720528 | MC4R | c.101G>T (p.Gly34Val) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.60372249C= | CA2307359369 | MC4R | c.101G= (p.Gly34=) | |
| 18 | g.60372249C>G | CA8980985 | MC4R | c.101G>C (p.Gly34Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60372249C>T | CA402720529 | MC4R | c.101G>A (p.Gly34Asp) | dbSNP |
| 18 | g.60372250C>A | CA402720530 | MC4R | c.100G>T (p.Gly34Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.60372250C= | CA2307359370 | MC4R | c.100G= (p.Gly34=) | |
| 18 | g.60372250C>G | CA402720531 | MC4R | c.100G>C (p.Gly34Arg) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 18 | g.60372250C>T | CA402720532 | MC4R | c.100G>A (p.Gly34Ser) | |
| 18 | g.60372251T>A | CA402720533 | MC4R | c.99A>T (p.Lys33Asn) | |
| 18 | g.60372251T>C | CA504305588 | MC4R | c.99A>G (p.Lys33=) | |
| 18 | g.60372251T>G | CA402720534 | MC4R | c.99A>C (p.Lys33Asn) | |
| 18 | g.60372254dup | CA2307359371 | MC4R | c.99dup (p.Gly34ArgfsTer4) | dbSNP |
| 18 | g.60372252T>A | CA402720535 | MC4R | c.98A>T (p.Lys33Ile) | |
| 18 | g.60372252T>C | CA402720536 | MC4R | c.98A>G (p.Lys33Arg) | gnomAD v4 |
| 18 | g.60372252T>G | CA402720537 | MC4R | c.98A>C (p.Lys33Thr) | |
| 18 | g.60372253T>A | CA402720538 | MC4R | c.97A>T (p.Lys33Ter) | |
| 18 | g.60372253T>C | CA402720540 | MC4R | c.97A>G (p.Lys33Glu) | |
| 18 | g.60372253T>G | CA402720539 | MC4R | c.97A>C (p.Lys33Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.60372253T= | CA2307359372 | MC4R | c.97A= (p.Lys33=) | |
| 18 | g.60372254T>A | CA504305589 | MC4R | c.96A>T (p.Gly32=) | |
| 18 | g.60372254T>C | CA504305591 | MC4R | c.96A>G (p.Gly32=) | |
| 18 | g.60372254T>G | CA504305590 | MC4R | c.96A>C (p.Gly32=) | |
| 18 | g.60372254_60372255delinsTC | CA2307359373 | MC4R | c.95_96delinsGA (p.Gly32=) | |
| 18 | g.60372255C>A | CA402720541 | MC4R | c.95G>T (p.Gly32Val) | |
| 18 | g.60372255C= | CA2307359374 | MC4R | c.95G= (p.Gly32=) | |
| 18 | g.60372255C>G | CA402720542 | MC4R | c.95G>C (p.Gly32Ala) | |
| 18 | g.60372255C>T | CA8980986 | MC4R | c.95G>A (p.Gly32Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.60372256del | CA630399130 | MC4R | c.95del (p.Gly32GlufsTer21) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.60372256C>A | CA402720543 | MC4R | c.94G>T (p.Gly32Ter) | |
| 18 | g.60372256C>G | CA402720544 | MC4R | c.94G>C (p.Gly32Arg) | gnomAD v4 |
| 18 | g.60372256C>T | CA402720545 | MC4R | c.94G>A (p.Gly32Arg) | COSMIC |
| 18 | g.60372257A>C | CA504305594 | MC4R | c.93T>G (p.Leu31=) | |
| 18 | g.60372257A>G | CA504305596 | MC4R | c.93T>C (p.Leu31=) | gnomAD v4 |
| 18 | g.60372257A>T | CA504305597 | MC4R | c.93T>A (p.Leu31=) | |
| 18 | g.60372258A>C | CA402720546 | MC4R | c.92T>G (p.Leu31Arg) | |
| 18 | g.60372258A>G | CA402720547 | MC4R | c.92T>C (p.Leu31Pro) | |
| 18 | g.60372258A>T | CA402720548 | MC4R | c.92T>A (p.Leu31His) | |
| 18 | g.60372259G>A | CA8980987 | MC4R | c.91C>T (p.Leu31Phe) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 18 | g.60372259G>C | CA402720550 | MC4R | c.91C>G (p.Leu31Val) | |
| 18 | g.60372259G= | CA2307359375 | MC4R | c.91C= (p.Leu31=) | |
| 18 | g.60372259G>T | CA402720549 | MC4R | c.91C>A (p.Leu31Ile) | |
| 18 | g.60372260G>A | CA8980988 | MC4R | c.90C>T (p.Ser30=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60372260G>C | CA504305600 | MC4R | c.90C>G (p.Ser30=) | |
| 18 | g.60372260G= | CA2307359376 | MC4R | c.90C= (p.Ser30=) | |
| 18 | g.60372260G>T | CA504305599 | MC4R | c.90C>A (p.Ser30=) | |
| 18 | g.60372261G>A | CA8980989 | MC4R | c.89C>T (p.Ser30Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60372261G>C | CA402720551 | MC4R | c.89C>G (p.Ser30Cys) | |
| 18 | g.60372261G= | CA2307359377 | MC4R | c.89C= (p.Ser30=) | |
| 18 | g.60372261G>T | CA402720552 | MC4R | c.89C>A (p.Ser30Tyr) | COSMIC |
| 18 | g.60372262A>C | CA402720553 | MC4R | c.88T>G (p.Ser30Ala) | |
| 18 | g.60372262A>G | CA402720554 | MC4R | c.88T>C (p.Ser30Pro) | |
| 18 | g.60372262A>T | CA402720555 | MC4R | c.88T>A (p.Ser30Thr) | |
| 18 | g.60372263C>A | CA402720556 | MC4R | c.87G>T (p.Glu29Asp) | |
| 18 | g.60372263C>G | CA402720557 | MC4R | c.87G>C (p.Glu29Asp) | |
| 18 | g.60372263C>T | CA504305606 | MC4R | c.87G>A (p.Glu29=) | |
| 18 | g.60372264T>A | CA402720558 | MC4R | c.86A>T (p.Glu29Val) | |
| 18 | g.60372264T>C | CA402720559 | MC4R | c.86A>G (p.Glu29Gly) | |
| 18 | g.60372264T>G | CA402720560 | MC4R | c.86A>C (p.Glu29Ala) | |
| 18 | g.60372265C>A | CA402720562 | MC4R | c.85G>T (p.Glu29Ter) | |
| 18 | g.60372265C>G | CA402720563 | MC4R | c.85G>C (p.Glu29Gln) | |
| 18 | g.60372265C>T | CA402720561 | MC4R | c.85G>A (p.Glu29Lys) | |
| 18 | g.60372266A= | CA2307359378 | MC4R | c.84T= (p.Ser28=) | |
| 18 | g.60372266A>C | CA402720564 | MC4R | c.84T>G (p.Ser28Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.60372266A>G | CA504305609 | MC4R | c.84T>C (p.Ser28=) | |
| 18 | g.60372266A>T | CA402720565 | MC4R | c.84T>A (p.Ser28Arg) | |
| 18 | g.60372267C>A | CA402720566 | MC4R | c.83G>T (p.Ser28Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.60372267C= | CA2307359379 | MC4R | c.83G= (p.Ser28=) | |
| 18 | g.60372267C>G | CA402720567 | MC4R | c.83G>C (p.Ser28Thr) | |
| 18 | g.60372267C>T | CA402720568 | MC4R | c.83G>A (p.Ser28Asn) | |
| 18 | g.60372268T>A | CA402720571 | MC4R | c.82A>T (p.Ser28Cys) | |
| 18 | g.60372268T>C | CA402720569 | MC4R | c.82A>G (p.Ser28Gly) | |
| 18 | g.60372268T>G | CA402720570 | MC4R | c.82A>C (p.Ser28Arg) | |
| 18 | g.60372269G>A | CA504305615 | MC4R | c.81C>T (p.Ala27=) | |
| 18 | g.60372269G>C | CA504305613 | MC4R | c.81C>G (p.Ala27=) | |
| 18 | g.60372269G>T | CA504305614 | MC4R | c.81C>A (p.Ala27=) | |
| 18 | g.60372270G>A | CA402720572 | MC4R | c.80C>T (p.Ala27Val) | dbSNP gnomAD v4 |
| 18 | g.60372270G>C | CA402720573 | MC4R | c.80C>G (p.Ala27Gly) | |
| 18 | g.60372270G= | CA2307359380 | MC4R | c.80C= (p.Ala27=) | |
| 18 | g.60372270G>T | CA402720574 | MC4R | c.80C>A (p.Ala27Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.60372271C>A | CA402720575 | MC4R | c.79G>T (p.Ala27Ser) | |
| 18 | g.60372271C= | CA2307359381 | MC4R | c.79G= (p.Ala27=) | |
| 18 | g.60372271C>G | CA402720576 | MC4R | c.79G>C (p.Ala27Pro) | |
| 18 | g.60372271C>T | CA8980990 | MC4R | c.79G>A (p.Ala27Thr) | dbSNP ExAC gnomAD v4 |
| 18 | g.60372272A= | CA2307359382 | MC4R | c.78T= (p.Asn26=) | |
| 18 | g.60372272A>C | CA402720578 | MC4R | c.78T>G (p.Asn26Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.60372272A>G | CA504305618 | MC4R | c.78T>C (p.Asn26=) | gnomAD v4 |
| 18 | g.60372272A>T | CA402720577 | MC4R | c.78T>A (p.Asn26Lys) | gnomAD v4 |
| 18 | g.60372273T>A | CA402720579 | MC4R | c.77A>T (p.Asn26Ile) | |
| 18 | g.60372273T>C | CA402720581 | MC4R | c.77A>G (p.Asn26Ser) | |
| 18 | g.60372273T>G | CA402720580 | MC4R | c.77A>C (p.Asn26Thr) | |
| 18 | g.60372274T>A | CA402720582 | MC4R | c.76A>T (p.Asn26Tyr) | |
| 18 | g.60372274T>C | CA402720584 | MC4R | c.76A>G (p.Asn26Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.60372274T>G | CA402720583 | MC4R | c.76A>C (p.Asn26His) | |
| 18 | g.60372274T= | CA2307359383 | MC4R | c.76A= (p.Asn26=) | |
| 18 | g.60372275G>A | CA504305619 | MC4R | c.75C>T (p.Ser25=) | gnomAD v4 |
| 18 | g.60372275G>C | CA402720585 | MC4R | c.75C>G (p.Ser25Arg) | |
| 18 | g.60372275G= | CA2307359384 | MC4R | c.75C= (p.Ser25=) | |
| 18 | g.60372275G>T | CA8980991 | MC4R | c.75C>A (p.Ser25Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.60372276C>A | CA402720586 | MC4R | c.74G>T (p.Ser25Ile) | |
| 18 | g.60372276C>G | CA402720587 | MC4R | c.74G>C (p.Ser25Thr) | gnomAD v4 |
| 18 | g.60372276C>T | CA402720588 | MC4R | c.74G>A (p.Ser25Asn) | gnomAD v4 |
| 18 | g.60372277T>A | CA402720589 | MC4R | c.73A>T (p.Ser25Cys) | |
| 18 | g.60372277T>C | CA402720590 | MC4R | c.73A>G (p.Ser25Gly) | |
| 18 | g.60372277T>G | CA402720591 | MC4R | c.73A>C (p.Ser25Arg) | dbSNP |
| 18 | g.60372277T= | CA2307359385 | MC4R | c.73A= (p.Ser25=) | |
| 18 | g.60372278G>A | CA504305621 | MC4R | c.72C>T (p.His24=) | |
| 18 | g.60372278G>C | CA402720593 | MC4R | c.72C>G (p.His24Gln) | |
| 18 | g.60372278G>T | CA402720592 | MC4R | c.72C>A (p.His24Gln) | |
| 18 | g.60372279T>A | CA402720594 | MC4R | c.71A>T (p.His24Leu) | |
| 18 | g.60372279T>C | CA402720595 | MC4R | c.71A>G (p.His24Arg) | dbSNP |
| 18 | g.60372279T>G | CA402720596 | MC4R | c.71A>C (p.His24Pro) | |
| 18 | g.60372279T= | CA2307359386 | MC4R | c.71A= (p.His24=) | |
| 18 | g.60372280G>A | CA402720597 | MC4R | c.70C>T (p.His24Tyr) | |
| 18 | g.60372280G>C | CA402720598 | MC4R | c.70C>G (p.His24Asp) | |
| 18 | g.60372280G= | CA2307359387 | MC4R | c.70C= (p.His24=) | |
| 18 | g.60372280G>T | CA301530057 | MC4R | c.70C>A (p.His24Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60372281C>A | CA504305623 | MC4R | c.69G>T (p.Leu23=) | |
| 18 | g.60372281C= | CA2307359388 | MC4R | c.69G= (p.Leu23=) | |
| 18 | g.60372281C>G | CA504305625 | MC4R | c.69G>C (p.Leu23=) | |
| 18 | g.60372281C>T | CA504305626 | MC4R | c.69G>A (p.Leu23=) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.60372282del | CA2642029307 | MC4R | c.68del (p.Leu23ArgfsTer30) | gnomAD v4 |
| 18 | g.60372282A>C | CA402720601 | MC4R | c.68T>G (p.Leu23Arg) | |
| 18 | g.60372282A>G | CA402720599 | MC4R | c.68T>C (p.Leu23Pro) | |
| 18 | g.60372282A>T | CA402720600 | MC4R | c.68T>A (p.Leu23Gln) | |
| 18 | g.60372283G>A | CA504305627 | MC4R | c.67C>T (p.Leu23=) | |
| 18 | g.60372283G>C | CA402720602 | MC4R | c.67C>G (p.Leu23Val) | |
| 18 | g.60372283G>T | CA402720603 | MC4R | c.67C>A (p.Leu23Met) | |
| 18 | g.60372284T>A | CA402720604 | MC4R | c.66A>T (p.Arg22Ser) | |
| 18 | g.60372284T>C | CA504305628 | MC4R | c.66A>G (p.Arg22=) | |
| 18 | g.60372284T>G | CA402720605 | MC4R | c.66A>C (p.Arg22Ser) | |
| 18 | g.60372285C>A | CA402720606 | MC4R | c.65G>T (p.Arg22Ile) | |
| 18 | g.60372285C>G | CA402720607 | MC4R | c.65G>C (p.Arg22Thr) | |
| 18 | g.60372285C>T | CA402720608 | MC4R | c.65G>A (p.Arg22Lys) | COSMIC |
| 18 | g.60372285_60372287delinsCTG | CA2307359389 | MC4R | c.63_65delinsCAG (p.Tyr21=) | |
| 18 | g.60372286T>A | CA402720609 | MC4R | c.64A>T (p.Arg22Ter) | |
| 18 | g.60372286T>C | CA402720610 | MC4R | c.64A>G (p.Arg22Gly) | |
| 18 | g.60372286T>G | CA504305632 | MC4R | c.64A>C (p.Arg22=) | |
| 18 | g.60372287_60372288del | CA8980992 | MC4R | c.63_64del (p.Tyr21Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60372287del | CA2642029308 | MC4R | c.63del (p.Tyr21Ter) | gnomAD v4 |
| 18 | g.60372287G>A | CA504305633 | MC4R | c.63C>T (p.Tyr21=) | dbSNP |
| 18 | g.60372287G>C | CA402720611 | MC4R | c.63C>G (p.Tyr21Ter) | |
| 18 | g.60372287G= | CA2307359390 | MC4R | c.63C= (p.Tyr21=) | |
| 18 | g.60372287G>T | CA402720612 | MC4R | c.63C>A (p.Tyr21Ter) | |
| 18 | g.60372288T>A | CA402720613 | MC4R | c.62A>T (p.Tyr21Phe) | |
| 18 | g.60372288T>C | CA402720615 | MC4R | c.62A>G (p.Tyr21Cys) | COSMIC |
| 18 | g.60372288T>G | CA402720614 | MC4R | c.62A>C (p.Tyr21Ser) | |
| 18 | g.60372289A>C | CA402720616 | MC4R | c.61T>G (p.Tyr21Asp) | |
| 18 | g.60372289A>G | CA402720617 | MC4R | c.61T>C (p.Tyr21His) | |
| 18 | g.60372289A>T | CA402720618 | MC4R | c.61T>A (p.Tyr21Asn) | |
| 18 | g.60372290A>C | CA402720619 | MC4R | c.60T>G (p.Ser20Arg) | |
| 18 | g.60372290A>G | CA504305635 | MC4R | c.60T>C (p.Ser20=) | |
| 18 | g.60372290A>T | CA402720620 | MC4R | c.60T>A (p.Ser20Arg) |