2 | g.25161648C>A | CA346067484 | POMC | c.237G>T (p.Met79Ile)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161648C= | CA1239228323 | POMC | c.237G= (p.Met79=)
| |
2 | g.25161648C>G | CA346067485 | POMC | c.237G>C (p.Met79Ile)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161648C>T | CA346067486 | POMC | c.237G>A (p.Met79Ile)
| gnomAD v4 |
2 | g.25161649A>C | CA346067487 | POMC | c.236T>G (p.Met79Arg)
| |
2 | g.25161649A>G | CA346067488 | POMC | c.236T>C (p.Met79Thr)
| |
2 | g.25161649A>T | CA346067489 | POMC | c.236T>A (p.Met79Lys)
| |
2 | g.25161649_25161662del | CA2576693518 | POMC | c.223_236del (p.Arg75GlyfsTer?)
| |
2 | g.25161650T>A | CA346067492 | POMC | c.235A>T (p.Met79Leu)
| |
2 | g.25161650T>C | CA346067491 | POMC | c.235A>G (p.Met79Val)
| |
2 | g.25161650T>G | CA346067490 | POMC | c.235A>C (p.Met79Leu)
| |
2 | g.25161651G>A | CA425179972 | POMC | c.234C>T (p.Val78=)
| |
2 | g.25161651G>C | CA425179973 | POMC | c.234C>G (p.Val78=)
| |
2 | g.25161651G= | CA1239228327 | POMC | c.234C= (p.Val78=)
| |
2 | g.25161651G>T | CA425179975 | POMC | c.234C>A (p.Val78=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161652A>C | CA346067495 | POMC | c.233T>G (p.Val78Gly)
| gnomAD v4 |
2 | g.25161652A>G | CA346067493 | POMC | c.233T>C (p.Val78Ala)
| |
2 | g.25161652A>T | CA346067494 | POMC | c.233T>A (p.Val78Asp)
| |
2 | g.25161653C>A | CA346067496 | POMC | c.232G>T (p.Val78Phe)
| gnomAD v4 |
2 | g.25161653C>G | CA346067497 | POMC | c.232G>C (p.Val78Leu)
| |
2 | g.25161653C>T | CA346067498 | POMC | c.232G>A (p.Val78Ile)
| gnomAD v4 |
2 | g.25161654G>A | CA1555351 | POMC | c.231C>T (p.Tyr77=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161654G>C | CA346067499 | POMC | c.231C>G (p.Tyr77Ter)
| |
2 | g.25161654G= | CA1239228329 | POMC | c.231C= (p.Tyr77=)
| |
2 | g.25161654G>T | CA346067500 | POMC | c.231C>A (p.Tyr77Ter)
| gnomAD v4 |
2 | g.25161655T>A | CA346067501 | POMC | c.230A>T (p.Tyr77Phe)
| |
2 | g.25161655T>C | CA346067502 | POMC | c.230A>G (p.Tyr77Cys)
| gnomAD v4 |
2 | g.25161655T>G | CA346067503 | POMC | c.230A>C (p.Tyr77Ser)
| |
2 | g.25161656A>C | CA346067504 | POMC | c.229T>G (p.Tyr77Asp)
| gnomAD v4 |
2 | g.25161656A>G | CA346067505 | POMC | c.229T>C (p.Tyr77His)
| |
2 | g.25161656A>T | CA346067506 | POMC | c.229T>A (p.Tyr77Asn)
| |
2 | g.25161657C>A | CA346067507 | POMC | c.228G>T (p.Lys76Asn)
| |
2 | g.25161657C= | CA1239228333 | POMC | c.228G= (p.Lys76=)
| |
2 | g.25161657C>G | CA346067508 | POMC | c.228G>C (p.Lys76Asn)
| |
2 | g.25161657C>T | CA425179991 | POMC | c.228G>A (p.Lys76=)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.25161658T>A | CA346067509 | POMC | c.227A>T (p.Lys76Met)
| |
2 | g.25161658T>C | CA346067510 | POMC | c.227A>G (p.Lys76Arg)
| |
2 | g.25161658T>G | CA346067511 | POMC | c.227A>C (p.Lys76Thr)
| |
2 | g.25161659T>A | CA346067512 | POMC | c.226A>T (p.Lys76Ter)
| |
2 | g.25161659T>C | CA346067513 | POMC | c.226A>G (p.Lys76Glu)
| |
2 | g.25161659T>G | CA43684965 | POMC | c.226A>C (p.Lys76Gln)
| dbSNP gnomAD v4 |
2 | g.25161659T= | CA1239228334 | POMC | c.226A= (p.Lys76=)
| |
2 | g.25161659_25161660delinsTC | CA1239228335 | POMC | c.225_226delinsGA (p.Arg75=)
| |
2 | g.25161660C>A | CA425180001 | POMC | c.225G>T (p.Arg75=)
| |
2 | g.25161660C= | CA1239228339 | POMC | c.225G= (p.Arg75=)
| |
2 | g.25161660C>G | CA425180002 | POMC | c.225G>C (p.Arg75=)
| |
2 | g.25161660C>T | CA1555352 | POMC | c.225G>A (p.Arg75=)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
2 | g.25161661del | CA913189932 | POMC | c.225del (p.Lys76SerfsTer?)
| ClinVar dbSNP |
2 | g.25161661C>A | CA346067514 | POMC | c.224G>T (p.Arg75Leu)
| |
2 | g.25161661C>G | CA346067515 | POMC | c.224G>C (p.Arg75Pro)
| |
2 | g.25161661C>T | CA346067516 | POMC | c.224G>A (p.Arg75Gln)
| gnomAD v4 |
2 | g.25161662G>A | CA346067517 | POMC | c.223C>T (p.Arg75Trp)
| |
2 | g.25161662G>C | CA346067518 | POMC | c.223C>G (p.Arg75Gly)
| gnomAD v4 |
2 | g.25161662G>T | CA425180009 | POMC | c.223C>A (p.Arg75=)
| gnomAD v4 |
2 | g.25161666dup | CA2586968733 | POMC | c.223dup (p.Arg75ProfsTer?)
| |
2 | g.25161663G>A | CA425180013 | POMC | c.222C>T (p.Pro74=)
| gnomAD v4 |
2 | g.25161663G>C | CA425180012 | POMC | c.222C>G (p.Pro74=)
| |
2 | g.25161663G>T | CA425180015 | POMC | c.222C>A (p.Pro74=)
| gnomAD v4 |
2 | g.25161663_25161678delinsGGGGTTCTCGGTCAGA | CA1239228340 | POMC | c.207_222delinsTCTGACCGAGAACCCC (p.Pro69=)
| |
2 | g.25161664G>A | CA346067520 | POMC | c.221C>T (p.Pro74Leu)
| gnomAD v4 |
2 | g.25161664G>C | CA346067521 | POMC | c.221C>G (p.Pro74Arg)
| |
2 | g.25161664G= | CA1239228342 | POMC | c.221C= (p.Pro74=)
| |
2 | g.25161664G>T | CA346067519 | POMC | c.221C>A (p.Pro74His)
| ClinVar dbSNP gnomAD v4 |
2 | g.25161666_25161680del | CA767173809 | POMC | c.207_221del (p.Leu70_Pro74del)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.25161665G>A | CA346067522 | POMC | c.220C>T (p.Pro74Ser)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.25161665G>C | CA346067524 | POMC | c.220C>G (p.Pro74Ala)
| |
2 | g.25161665G= | CA1239228344 | POMC | c.220C= (p.Pro74=)
| |
2 | g.25161665G>T | CA346067523 | POMC | c.220C>A (p.Pro74Thr)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.25161666G>A | CA425180023 | POMC | c.219C>T (p.Asn73=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161666G>C | CA346067525 | POMC | c.219C>G (p.Asn73Lys)
| |
2 | g.25161666G= | CA1239228345 | POMC | c.219C= (p.Asn73=)
| |
2 | g.25161666G>T | CA346067526 | POMC | c.219C>A (p.Asn73Lys)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.25161667T>A | CA346067527 | POMC | c.218A>T (p.Asn73Ile)
| |
2 | g.25161667T>C | CA346067528 | POMC | c.218A>G (p.Asn73Ser)
| |
2 | g.25161667T>G | CA346067529 | POMC | c.218A>C (p.Asn73Thr)
| dbSNP |
2 | g.25161668T>A | CA346067530 | POMC | c.217A>T (p.Asn73Tyr)
| |
2 | g.25161668T>C | CA346067531 | POMC | c.217A>G (p.Asn73Asp)
| gnomAD v4 |
2 | g.25161668T>G | CA346067532 | POMC | c.217A>C (p.Asn73His)
| |
2 | g.25161669C>A | CA43684979 | POMC | c.216G>T (p.Glu72Asp)
| dbSNP gnomAD v4 |
2 | g.25161669C= | CA1239228348 | POMC | c.216G= (p.Glu72=)
| |
2 | g.25161669C>G | CA346067533 | POMC | c.216G>C (p.Glu72Asp)
| |
2 | g.25161669C>T | CA43684975 | POMC | c.216G>A (p.Glu72=)
| dbSNP gnomAD v2 |
2 | g.25161670T>A | CA346067536 | POMC | c.215A>T (p.Glu72Val)
| |
2 | g.25161670T>C | CA346067535 | POMC | c.215A>G (p.Glu72Gly)
| |
2 | g.25161670T>G | CA346067534 | POMC | c.215A>C (p.Glu72Ala)
| |
2 | g.25161671C>A | CA346067537 | POMC | c.214G>T (p.Glu72Ter)
| |
2 | g.25161671C>G | CA346067538 | POMC | c.214G>C (p.Glu72Gln)
| |
2 | g.25161671C>T | CA346067539 | POMC | c.214G>A (p.Glu72Lys)
| gnomAD v4 |
2 | g.25161672G>A | CA1555353 | POMC | c.213C>T (p.Thr71=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25161672G>C | CA1555354 | POMC | c.213C>G (p.Thr71=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25161672G= | CA1239228355 | POMC | c.213C= (p.Thr71=)
| |
2 | g.25161672G>T | CA425180041 | POMC | c.213C>A (p.Thr71=)
| dbSNP gnomAD v4 |
2 | g.25161673G>A | CA346067540 | POMC | c.212C>T (p.Thr71Ile)
| |
2 | g.25161673G>C | CA346067541 | POMC | c.212C>G (p.Thr71Ser)
| gnomAD v4 |
2 | g.25161673G>T | CA346067542 | POMC | c.212C>A (p.Thr71Asn)
| |
2 | g.25161674del | CA2658163236 | POMC | c.211del (p.Thr71ProfsTer?)
| gnomAD v4 |
2 | g.25161674T>A | CA346067543 | POMC | c.211A>T (p.Thr71Ser)
| |
2 | g.25161674T>C | CA346067544 | POMC | c.211A>G (p.Thr71Ala)
| |
2 | g.25161674T>G | CA346067545 | POMC | c.211A>C (p.Thr71Pro)
| |
2 | g.25161675C>A | CA425180050 | POMC | c.210G>T (p.Leu70=)
| gnomAD v4 |
2 | g.25161675C>G | CA425180051 | POMC | c.210G>C (p.Leu70=)
| |
2 | g.25161675C>T | CA425180053 | POMC | c.210G>A (p.Leu70=)
| gnomAD v4 |
2 | g.25161676A= | CA1239228360 | POMC | c.209T= (p.Leu70=)
| |
2 | g.25161676A>C | CA346067547 | POMC | c.209T>G (p.Leu70Arg)
| gnomAD v4 |
2 | g.25161676A>G | CA346067548 | POMC | c.209T>C (p.Leu70Pro)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.25161676A>T | CA346067546 | POMC | c.209T>A (p.Leu70Gln)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161677G>A | CA425180059 | POMC | c.208C>T (p.Leu70=)
| |
2 | g.25161677G>C | CA346067549 | POMC | c.208C>G (p.Leu70Val)
| |
2 | g.25161677G>T | CA346067550 | POMC | c.208C>A (p.Leu70Met)
| gnomAD v4 |
2 | g.25161678A>C | CA425180063 | POMC | c.207T>G (p.Pro69=)
| gnomAD v4 |
2 | g.25161678A>G | CA425180064 | POMC | c.207T>C (p.Pro69=)
| gnomAD v4 |
2 | g.25161678A>T | CA425180066 | POMC | c.207T>A (p.Pro69=)
| |
2 | g.25161678_25161691del | CA2658163237 | POMC | c.194_207del (p.Gly65AlafsTer?)
| gnomAD v4 |
2 | g.25161679G>A | CA1555355 | POMC | c.206C>T (p.Pro69Leu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25161679G>C | CA346067551 | POMC | c.206C>G (p.Pro69Arg)
| COSMIC |
2 | g.25161679G= | CA1239228363 | POMC | c.206C= (p.Pro69=)
| |
2 | g.25161679G>T | CA346067552 | POMC | c.206C>A (p.Pro69His)
| gnomAD v4 |
2 | g.25161680del | CA2586968734 | POMC | c.206del (p.Pro69LeufsTer2)
| |
2 | g.25161680G>A | CA346067553 | POMC | c.205C>T (p.Pro69Ser)
| |
2 | g.25161680G>C | CA346067554 | POMC | c.205C>G (p.Pro69Ala)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.25161680G= | CA1239228366 | POMC | c.205C= (p.Pro69=)
| |
2 | g.25161680G>T | CA346067555 | POMC | c.205C>A (p.Pro69Thr)
| gnomAD v4 |
2 | g.25161681C>A | CA346067556 | POMC | c.204G>T (p.Gln68His)
| gnomAD v4 |
2 | g.25161681C>G | CA346067557 | POMC | c.204G>C (p.Gln68His)
| gnomAD v4 |
2 | g.25161681C>T | CA425180075 | POMC | c.204G>A (p.Gln68=)
| |
2 | g.25161682T>A | CA346067558 | POMC | c.203A>T (p.Gln68Leu)
| |
2 | g.25161682T>C | CA346067559 | POMC | c.203A>G (p.Gln68Arg)
| |
2 | g.25161682T>G | CA346067560 | POMC | c.203A>C (p.Gln68Pro)
| gnomAD v4 |
2 | g.25161683G>A | CA346067563 | POMC | c.202C>T (p.Gln68Ter)
| gnomAD v4 |
2 | g.25161683G>C | CA346067562 | POMC | c.202C>G (p.Gln68Glu)
| |
2 | g.25161683G= | CA1239228370 | POMC | c.202C= (p.Gln68=)
| |
2 | g.25161683G>T | CA346067561 | POMC | c.202C>A (p.Gln68Lys)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161684C>A | CA346067564 | POMC | c.201G>T (p.Glu67Asp)
| |
2 | g.25161684C= | CA1239228374 | POMC | c.201G= (p.Glu67=)
| |
2 | g.25161684C>G | CA1555356 | POMC | c.201G>C (p.Glu67Asp)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25161684C>T | CA425180079 | POMC | c.201G>A (p.Glu67=)
| dbSNP gnomAD v4 |
2 | g.25161685T>A | CA346067565 | POMC | c.200A>T (p.Glu67Val)
| |
2 | g.25161685T>C | CA346067566 | POMC | c.200A>G (p.Glu67Gly)
| gnomAD v4 |
2 | g.25161685T>G | CA346067567 | POMC | c.200A>C (p.Glu67Ala)
| |
2 | g.25161686C>A | CA346067568 | POMC | c.199G>T (p.Glu67Ter)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.25161686C= | CA1239228378 | POMC | c.199G= (p.Glu67=)
| |
2 | g.25161686C>G | CA346067569 | POMC | c.199G>C (p.Glu67Gln)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.25161686C>T | CA346067570 | POMC | c.199G>A (p.Glu67Lys)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.25161687G>A | CA425180087 | POMC | c.198C>T (p.Asp66=)
| gnomAD v4 |
2 | g.25161687G>C | CA1555357 | POMC | c.198C>G (p.Asp66Glu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161687G= | CA1239228383 | POMC | c.198C= (p.Asp66=)
| |
2 | g.25161687G>T | CA346067571 | POMC | c.198C>A (p.Asp66Glu)
| |
2 | g.25161688T>A | CA346067572 | POMC | c.197A>T (p.Asp66Val)
| |
2 | g.25161688T>C | CA346067573 | POMC | c.197A>G (p.Asp66Gly)
| |
2 | g.25161688T>G | CA346067574 | POMC | c.197A>C (p.Asp66Ala)
| |
2 | g.25161689C>A | CA346067576 | POMC | c.196G>T (p.Asp66Tyr)
| |
2 | g.25161689C= | CA1239228387 | POMC | c.196G= (p.Asp66=)
| |
2 | g.25161689C>G | CA346067577 | POMC | c.196G>C (p.Asp66His)
| |
2 | g.25161689C>T | CA346067575 | POMC | c.196G>A (p.Asp66Asn)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.25161690G>A | CA425180094 | POMC | c.195C>T (p.Gly65=)
| dbSNP gnomAD v4 COSMIC |
2 | g.25161690G>C | CA425180096 | POMC | c.195C>G (p.Gly65=)
| |
2 | g.25161690G= | CA1239228391 | POMC | c.195C= (p.Gly65=)
| |
2 | g.25161690G>T | CA425180097 | POMC | c.195C>A (p.Gly65=)
| gnomAD v4 |
2 | g.25161691C>A | CA346067580 | POMC | c.194G>T (p.Gly65Val)
| gnomAD v4 |
2 | g.25161691C>G | CA346067578 | POMC | c.194G>C (p.Gly65Ala)
| |
2 | g.25161691C>T | CA346067579 | POMC | c.194G>A (p.Gly65Asp)
| gnomAD v4 |
2 | g.25161692C>A | CA346067581 | POMC | c.193G>T (p.Gly65Cys)
| gnomAD v4 |
2 | g.25161692C>G | CA346067582 | POMC | c.193G>C (p.Gly65Arg)
| |
2 | g.25161692C>T | CA346067583 | POMC | c.193G>A (p.Gly65Ser)
| gnomAD v4 |
2 | g.25161693A>C | CA346067584 | POMC | c.192T>G (p.Asn64Lys)
| |
2 | g.25161693A>G | CA425180104 | POMC | c.192T>C (p.Asn64=)
| gnomAD v4 |
2 | g.25161693A>T | CA346067585 | POMC | c.192T>A (p.Asn64Lys)
| |
2 | g.25161694T>A | CA346067586 | POMC | c.191A>T (p.Asn64Ile)
| |
2 | g.25161694T>C | CA346067587 | POMC | c.191A>G (p.Asn64Ser)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.25161694T>G | CA346067588 | POMC | c.191A>C (p.Asn64Thr)
| |
2 | g.25161694T= | CA1239228393 | POMC | c.191A= (p.Asn64=)
| |
2 | g.25161696dup | CA2840409594 | POMC | c.191dup (p.Asn64LysfsTer?)
| |
2 | g.25161695T>A | CA346067589 | POMC | c.190A>T (p.Asn64Tyr)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161695T>C | CA346067590 | POMC | c.190A>G (p.Asn64Asp)
| gnomAD v4 |
2 | g.25161695T>G | CA346067591 | POMC | c.190A>C (p.Asn64His)
| |
2 | g.25161695T= | CA1239228397 | POMC | c.190A= (p.Asn64=)
| |
2 | g.25161696T>A | CA425180112 | POMC | c.189A>T (p.Gly63=)
| gnomAD v4 |
2 | g.25161696T>C | CA425180113 | POMC | c.189A>G (p.Gly63=)
| |
2 | g.25161696T>G | CA425180115 | POMC | c.189A>C (p.Gly63=)
| dbSNP |
2 | g.25161697C>A | CA346067594 | POMC | c.188G>T (p.Gly63Val)
| gnomAD v4 |
2 | g.25161697C= | CA1239228401 | POMC | c.188G= (p.Gly63=)
| |
2 | g.25161697C>G | CA346067593 | POMC | c.188G>C (p.Gly63Ala)
| dbSNP gnomAD v4 |
2 | g.25161697C>T | CA346067592 | POMC | c.188G>A (p.Gly63Glu)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.25161699del | CA425180117 | POMC | c.188del (p.Gly63GlufsTer8)
| gnomAD v4 COSMIC |
2 | g.25161698C>A | CA346067595 | POMC | c.187G>T (p.Gly63Ter)
| gnomAD v4 |
2 | g.25161698C= | CA1239228407 | POMC | c.187G= (p.Gly63=)
| |
2 | g.25161698C>G | CA346067596 | POMC | c.187G>C (p.Gly63Arg)
| |
2 | g.25161698C>T | CA346067597 | POMC | c.187G>A (p.Gly63Arg)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.25161699C>A | CA1555358 | POMC | c.186G>T (p.Pro62=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161699C= | CA1239228416 | POMC | c.186G= (p.Pro62=)
| |
2 | g.25161699C>G | CA1555360 | POMC | c.186G>C (p.Pro62=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25161699C>T | CA1555359 | POMC | c.186G>A (p.Pro62=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161700G>A | CA1555361 | POMC | c.185C>T (p.Pro62Leu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161700G>C | CA346067598 | POMC | c.185C>G (p.Pro62Arg)
| |
2 | g.25161700G= | CA1239228426 | POMC | c.185C= (p.Pro62=)
| |
2 | g.25161700G>T | CA346067599 | POMC | c.185C>A (p.Pro62Gln)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.25161701G>A | CA346067600 | POMC | c.184C>T (p.Pro62Ser)
| gnomAD v4 COSMIC |
2 | g.25161701G>C | CA346067601 | POMC | c.184C>G (p.Pro62Ala)
| |
2 | g.25161701G>T | CA346067602 | POMC | c.184C>A (p.Pro62Thr)
| gnomAD v4 |
2 | g.25161702G>A | CA425180134 | POMC | c.183C>T (p.Phe61=)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.25161702G>C | CA346067603 | POMC | c.183C>G (p.Phe61Leu)
| |
2 | g.25161702G= | CA1239228430 | POMC | c.183C= (p.Phe61=)
| |
2 | g.25161702G>T | CA346067604 | POMC | c.183C>A (p.Phe61Leu)
| gnomAD v4 |
2 | g.25161703A>C | CA346067607 | POMC | c.182T>G (p.Phe61Cys)
| gnomAD v4 |
2 | g.25161703A>G | CA346067606 | POMC | c.182T>C (p.Phe61Ser)
| |
2 | g.25161703A>T | CA346067605 | POMC | c.182T>A (p.Phe61Tyr)
| |
2 | g.25161704A>C | CA346067608 | POMC | c.181T>G (p.Phe61Val)
| |
2 | g.25161704A>G | CA346067609 | POMC | c.181T>C (p.Phe61Leu)
| |
2 | g.25161704A>T | CA346067610 | POMC | c.181T>A (p.Phe61Ile)
| |
2 | g.25161705del | CA2573051910 | POMC | c.180del (p.Met60IlefsTer11)
| ClinVar dbSNP |
2 | g.25161705C>A | CA346067611 | POMC | c.180G>T (p.Met60Ile)
| gnomAD v4 |
2 | g.25161705C= | CA1239228435 | POMC | c.180G= (p.Met60=)
| |
2 | g.25161705C>G | CA346067612 | POMC | c.180G>C (p.Met60Ile)
| |
2 | g.25161705C>T | CA1555362 | POMC | c.180G>A (p.Met60Ile)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25161706A= | CA1239228439 | POMC | c.179T= (p.Met60=)
| |
2 | g.25161706A>C | CA346067614 | POMC | c.179T>G (p.Met60Arg)
| |
2 | g.25161706A>G | CA1555363 | POMC | c.179T>C (p.Met60Thr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161706A>T | CA346067613 | POMC | c.179T>A (p.Met60Lys)
| |
2 | g.25161707T>A | CA346067615 | POMC | c.178A>T (p.Met60Leu)
| |
2 | g.25161707T>C | CA1555364 | POMC | c.178A>G (p.Met60Val)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161707T>G | CA346067616 | POMC | c.178A>C (p.Met60Leu)
| gnomAD v4 |
2 | g.25161707T= | CA1239228447 | POMC | c.178A= (p.Met60=)
| |
2 | g.25161708G>A | CA425180153 | POMC | c.177C>T (p.Pro59=)
| |
2 | g.25161708G>C | CA425180155 | POMC | c.177C>G (p.Pro59=)
| dbSNP gnomAD v4 |
2 | g.25161708G= | CA1239228450 | POMC | c.177C= (p.Pro59=)
| |
2 | g.25161708G>T | CA425180157 | POMC | c.177C>A (p.Pro59=)
| gnomAD v4 |
2 | g.25161709G>A | CA1555365 | POMC | c.176C>T (p.Pro59Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161709G>C | CA346067617 | POMC | c.176C>G (p.Pro59Arg)
| |
2 | g.25161709G= | CA1239228457 | POMC | c.176C= (p.Pro59=)
| |
2 | g.25161709G>T | CA346067618 | POMC | c.176C>A (p.Pro59His)
| gnomAD v4 |
2 | g.25161710G>A | CA346067619 | POMC | c.175C>T (p.Pro59Ser)
| gnomAD v4 |
2 | g.25161710G>C | CA346067621 | POMC | c.175C>G (p.Pro59Ala)
| gnomAD v4 |
2 | g.25161710G= | CA1239228458 | POMC | c.175C= (p.Pro59=)
| |
2 | g.25161710G>T | CA346067620 | POMC | c.175C>A (p.Pro59Thr)
| gnomAD v4 |
2 | g.25161711A>C | CA425180164 | POMC | c.174T>G (p.Thr58=)
| |
2 | g.25161711A>G | CA425180163 | POMC | c.174T>C (p.Thr58=)
| gnomAD v4 |
2 | g.25161711A>T | CA425180161 | POMC | c.174T>A (p.Thr58=)
| |
2 | g.25161711dup | CA767173906 | POMC | c.174dup (p.Pro59SerfsTer?)
| dbSNP |
2 | g.25161712G>A | CA346067622 | POMC | c.173C>T (p.Thr58Ile)
| COSMIC |
2 | g.25161712G>C | CA346067623 | POMC | c.173C>G (p.Thr58Ser)
| |
2 | g.25161712G>T | CA346067624 | POMC | c.173C>A (p.Thr58Asn)
| gnomAD v4 |
2 | g.25161713T>A | CA346067625 | POMC | c.172A>T (p.Thr58Ser)
| |
2 | g.25161713T>C | CA1555366 | POMC | c.172A>G (p.Thr58Ala)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161713T>G | CA346067626 | POMC | c.172A>C (p.Thr58Pro)
| gnomAD v4 |
2 | g.25161713T= | CA1239228463 | POMC | c.172A= (p.Thr58=)
| |
2 | g.25161714C>A | CA346067627 | POMC | c.171G>T (p.Glu57Asp)
| gnomAD v4 |
2 | g.25161714C>G | CA346067628 | POMC | c.171G>C (p.Glu57Asp)
| |
2 | g.25161714C>T | CA425180175 | POMC | c.171G>A (p.Glu57=)
| |
2 | g.25161715T>A | CA346067629 | POMC | c.170A>T (p.Glu57Val)
| gnomAD v4 |
2 | g.25161715T>C | CA346067630 | POMC | c.170A>G (p.Glu57Gly)
| |
2 | g.25161715T>G | CA346067631 | POMC | c.170A>C (p.Glu57Ala)
| |
2 | g.25161716C>A | CA346067632 | POMC | c.169G>T (p.Glu57Ter)
| gnomAD v4 |
2 | g.25161716C= | CA1239228471 | POMC | c.169G= (p.Glu57=)
| |
2 | g.25161716C>G | CA43685040 | POMC | c.169G>C (p.Glu57Gln)
| dbSNP |
2 | g.25161716C>T | CA43685030 | POMC | c.169G>A (p.Glu57Lys)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161717G>A | CA1555367 | POMC | c.168C>T (p.Ala56=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161717G>C | CA1555368 | POMC | c.168C>G (p.Ala56=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25161717G= | CA1239228481 | POMC | c.168C= (p.Ala56=)
| |
2 | g.25161717G>T | CA425180184 | POMC | c.168C>A (p.Ala56=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161718G>A | CA346067633 | POMC | c.167C>T (p.Ala56Val)
| gnomAD v4 COSMIC |
2 | g.25161718G>C | CA346067634 | POMC | c.167C>G (p.Ala56Gly)
| dbSNP gnomAD v2 |
2 | g.25161718G= | CA1239228485 | POMC | c.167C= (p.Ala56=)
| |
2 | g.25161718G>T | CA346067635 | POMC | c.167C>A (p.Ala56Asp)
| gnomAD v4 COSMIC |
2 | g.25161719C>A | CA346067636 | POMC | c.166G>T (p.Ala56Ser)
| gnomAD v4 |
2 | g.25161719C= | CA1239228490 | POMC | c.166G= (p.Ala56=)
| |
2 | g.25161719C>G | CA346067637 | POMC | c.166G>C (p.Ala56Pro)
| |
2 | g.25161719C>T | CA346067638 | POMC | c.166G>A (p.Ala56Thr)
| dbSNP gnomAD v4 |
2 | g.25161720C>A | CA425180192 | POMC | c.165G>T (p.Ser55=)
| gnomAD v4 |
2 | g.25161720C= | CA1239228493 | POMC | c.165G= (p.Ser55=)
| |
2 | g.25161720C>G | CA425180193 | POMC | c.165G>C (p.Ser55=)
| dbSNP gnomAD v4 |
2 | g.25161720C>T | CA425180195 | POMC | c.165G>A (p.Ser55=)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.25161721G>A | CA346067639 | POMC | c.164C>T (p.Ser55Leu)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.25161721G>C | CA346067640 | POMC | c.164C>G (p.Ser55Trp)
| |
2 | g.25161721G= | CA1239228498 | POMC | c.164C= (p.Ser55=)
| |
2 | g.25161721G>T | CA346067641 | POMC | c.164C>A (p.Ser55Ter)
| gnomAD v4 |
2 | g.25161722A= | CA1239228502 | POMC | c.163T= (p.Ser55=)
| |
2 | g.25161722A>C | CA346067642 | POMC | c.163T>G (p.Ser55Ala)
| |
2 | g.25161722A>G | CA1555369 | POMC | c.163T>C (p.Ser55Pro)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161722A>T | CA346067643 | POMC | c.163T>A (p.Ser55Thr)
| |
2 | g.25161723G>A | CA425180203 | POMC | c.162C>T (p.Leu54=)
| dbSNP |
2 | g.25161723G>C | CA425180204 | POMC | c.162C>G (p.Leu54=)
| |
2 | g.25161723G= | CA1239228509 | POMC | c.162C= (p.Leu54=)
| |
2 | g.25161723G>T | CA425180206 | POMC | c.162C>A (p.Leu54=)
| gnomAD v4 |
2 | g.25161724A= | CA1239228516 | POMC | c.161T= (p.Leu54=)
| |
2 | g.25161724A>C | CA346067646 | POMC | c.161T>G (p.Leu54Arg)
| |
2 | g.25161724A>G | CA346067644 | POMC | c.161T>C (p.Leu54Pro)
| gnomAD v4 |
2 | g.25161724A>T | CA346067645 | POMC | c.161T>A (p.Leu54His)
| gnomAD v4 |
2 | g.25161725G>A | CA346067647 | POMC | c.160C>T (p.Leu54Phe)
| dbSNP gnomAD v4 |
2 | g.25161725G>C | CA346067648 | POMC | c.160C>G (p.Leu54Val)
| |
2 | g.25161725G= | CA1239228521 | POMC | c.160C= (p.Leu54=)
| |
2 | g.25161725G>T | CA346067649 | POMC | c.160C>A (p.Leu54Ile)
| gnomAD v4 |
2 | g.25161726dup | CA1239228520 | POMC | c.160dup (p.Leu54ProfsTer?)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.25161726G>A | CA425180220 | POMC | c.159C>T (p.Asp53=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161726G>C | CA346067650 | POMC | c.159C>G (p.Asp53Glu)
| |
2 | g.25161726G= | CA1239228527 | POMC | c.159C= (p.Asp53=)
| |
2 | g.25161726G>T | CA346067651 | POMC | c.159C>A (p.Asp53Glu)
| gnomAD v4 |
2 | g.25161727T>A | CA346067652 | POMC | c.158A>T (p.Asp53Val)
| |
2 | g.25161727T>C | CA1555370 | POMC | c.158A>G (p.Asp53Gly)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161727T>G | CA346067653 | POMC | c.158A>C (p.Asp53Ala)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.25161727T= | CA1239228540 | POMC | c.158A= (p.Asp53=)
| |
2 | g.25161728C>A | CA346067654 | POMC | c.157G>T (p.Asp53Tyr)
| gnomAD v4 |
2 | g.25161728C= | CA1239228544 | POMC | c.157G= (p.Asp53=)
| |
2 | g.25161728C>G | CA346067655 | POMC | c.157G>C (p.Asp53His)
| |
2 | g.25161728C>T | CA1555371 | POMC | c.157G>A (p.Asp53Asn)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161729G>A | CA425180235 | POMC | c.156C>T (p.Pro52=)
| gnomAD v4 |
2 | g.25161729G>C | CA425180238 | POMC | c.156C>G (p.Pro52=)
| |
2 | g.25161729G>T | CA425180240 | POMC | c.156C>A (p.Pro52=)
| gnomAD v4 |
2 | g.25161730G>A | CA346067657 | POMC | c.155C>T (p.Pro52Leu)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.25161730G>C | CA346067658 | POMC | c.155C>G (p.Pro52Arg)
| |
2 | g.25161730G= | CA1239228549 | POMC | c.155C= (p.Pro52=)
| |
2 | g.25161730G>T | CA346067656 | POMC | c.155C>A (p.Pro52His)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.25161731G>A | CA346067659 | POMC | c.154C>T (p.Pro52Ser)
| gnomAD v4 |
2 | g.25161731G>C | CA346067660 | POMC | c.154C>G (p.Pro52Ala)
| gnomAD v4 |
2 | g.25161731G= | CA1239228554 | POMC | c.154C= (p.Pro52=)
| |
2 | g.25161731G>T | CA346067661 | POMC | c.154C>A (p.Pro52Thr)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.25161732C>A | CA346067662 | POMC | c.153G>T (p.Lys51Asn)
| gnomAD v4 |
2 | g.25161732C= | CA1239228558 | POMC | c.153G= (p.Lys51=)
| |
2 | g.25161732C>G | CA346067663 | POMC | c.153G>C (p.Lys51Asn)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161732C>T | CA425180258 | POMC | c.153G>A (p.Lys51=)
| |
2 | g.25161733T>A | CA346067664 | POMC | c.152A>T (p.Lys51Met)
| |
2 | g.25161733T>C | CA346067665 | POMC | c.152A>G (p.Lys51Arg)
| gnomAD v4 |
2 | g.25161733T>G | CA1555372 | POMC | c.152A>C (p.Lys51Thr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25161733T= | CA1239228561 | POMC | c.152A= (p.Lys51=)
| |
2 | g.25161734T>A | CA256772 | POMC | c.151A>T (p.Lys51Ter)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.25161734T>C | CA346067666 | POMC | c.151A>G (p.Lys51Glu)
| |
2 | g.25161734T>G | CA346067667 | POMC | c.151A>C (p.Lys51Gln)
| |
2 | g.25161734T= | CA1239228571 | POMC | c.151A= (p.Lys51=)
| |
2 | g.25161735del | CA2576693519 | POMC | c.150del (p.Cys50Ter)
| |
2 | g.25161735G>A | CA425180273 | POMC | c.150C>T (p.Cys50=)
| gnomAD v4 |
2 | g.25161735G>C | CA346067668 | POMC | c.150C>G (p.Cys50Trp)
| |
2 | g.25161735G>T | CA346067669 | POMC | c.150C>A (p.Cys50Ter)
| gnomAD v4 |
2 | g.25161736C>A | CA346067671 | POMC | c.149G>T (p.Cys50Phe)
| gnomAD v4 |
2 | g.25161736C= | CA1239228581 | POMC | c.149G= (p.Cys50=)
| |
2 | g.25161736C>G | CA346067670 | POMC | c.149G>C (p.Cys50Ser)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.25161736C>T | CA1555373 | POMC | c.149G>A (p.Cys50Tyr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25161737A= | CA1239228591 | POMC | c.148T= (p.Cys50=)
| |
2 | g.25161737A>C | CA346067672 | POMC | c.148T>G (p.Cys50Gly)
| gnomAD v4 |
2 | g.25161737A>G | CA1555374 | POMC | c.148T>C (p.Cys50Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25161737A>T | CA346067673 | POMC | c.148T>A (p.Cys50Ser)
| gnomAD v4 |
2 | g.25161738G>A | CA425180292 | POMC | c.147C>T (p.Ala49=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161738G>C | CA425180299 | POMC | c.147C>G (p.Ala49=)
| gnomAD v4 |
2 | g.25161738G= | CA1239228594 | POMC | c.147C= (p.Ala49=)
| |
2 | g.25161738G>T | CA425180295 | POMC | c.147C>A (p.Ala49=)
| gnomAD v4 |
2 | g.25161739G>A | CA1555375 | POMC | c.146C>T (p.Ala49Val)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25161739G>C | CA346067674 | POMC | c.146C>G (p.Ala49Gly)
| gnomAD v4 |
2 | g.25161739G= | CA1239228599 | POMC | c.146C= (p.Ala49=)
| |
2 | g.25161739G>T | CA346067675 | POMC | c.146C>A (p.Ala49Asp)
| gnomAD v4 |
2 | g.25161740C>A | CA346067676 | POMC | c.145G>T (p.Ala49Ser)
| gnomAD v4 |
2 | g.25161740C>G | CA346067677 | POMC | c.145G>C (p.Ala49Pro)
| gnomAD v4 COSMIC |
2 | g.25161740C>T | CA346067678 | POMC | c.145G>A (p.Ala49Thr)
| gnomAD v4 |
2 | g.25161741C>A | CA425180312 | POMC | c.144G>T (p.Arg48=)
| gnomAD v4 |
2 | g.25161741C= | CA1239228604 | POMC | c.144G= (p.Arg48=)
| |
2 | g.25161741C>G | CA1555376 | POMC | c.144G>C (p.Arg48=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161741C>T | CA425180320 | POMC | c.144G>A (p.Arg48=)
| gnomAD v4 |
2 | g.25161742C>A | CA346067679 | POMC | c.143G>T (p.Arg48Leu)
| gnomAD v4 |
2 | g.25161742C= | CA1239228605 | POMC | c.143G= (p.Arg48=)
| |
2 | g.25161742C>G | CA346067680 | POMC | c.143G>C (p.Arg48Pro)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161742C>T | CA1555377 | POMC | c.143G>A (p.Arg48Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161743G>A | CA346067681 | POMC | c.142C>T (p.Arg48Trp)
| gnomAD v4 |
2 | g.25161743G>C | CA346067682 | POMC | c.142C>G (p.Arg48Gly)
| |
2 | g.25161743G>T | CA425180321 | POMC | c.142C>A (p.Arg48=)
| gnomAD v4 |
2 | g.25161744del | CA2658163238 | POMC | c.142del (p.Arg48GlyfsTer23)
| gnomAD v4 |
2 | g.25161744G>A | CA425180322 | POMC | c.141C>T (p.Ile47=)
| gnomAD v4 |
2 | g.25161744G>C | CA346067683 | POMC | c.141C>G (p.Ile47Met)
| gnomAD v4 |
2 | g.25161744G= | CA1239228606 | POMC | c.141C= (p.Ile47=)
| |
2 | g.25161744G>T | CA425180323 | POMC | c.141C>A (p.Ile47=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161745A>C | CA346067685 | POMC | c.140T>G (p.Ile47Ser)
| |
2 | g.25161745A>G | CA346067684 | POMC | c.140T>C (p.Ile47Thr)
| gnomAD v4 |
2 | g.25161745A>T | CA346067686 | POMC | c.140T>A (p.Ile47Asn)
| gnomAD v4 |
2 | g.25161746T>A | CA346067687 | POMC | c.139A>T (p.Ile47Phe)
| |
2 | g.25161746T>C | CA1555378 | POMC | c.139A>G (p.Ile47Val)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25161746T>G | CA346067688 | POMC | c.139A>C (p.Ile47Leu)
| gnomAD v4 |
2 | g.25161746T= | CA1239228607 | POMC | c.139A= (p.Ile47=)
| |
2 | g.25161746_25161751del | CA2840409595 | POMC | c.134_139del (p.Glu45_Ile47delinsVal)
| |
2 | g.25161747G>A | CA425180329 | POMC | c.138C>T (p.Cys46=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.25161747G>C | CA346067689 | POMC | c.138C>G (p.Cys46Trp)
| |
2 | g.25161747G= | CA1239228608 | POMC | c.138C= (p.Cys46=)
| |
2 | g.25161747G>T | CA346067690 | POMC | c.138C>A (p.Cys46Ter)
| gnomAD v4 |
2 | g.25161748C>A | CA346067691 | POMC | c.137G>T (p.Cys46Phe)
| gnomAD v4 |
2 | g.25161748C= | CA1239228609 | POMC | c.137G= (p.Cys46=)
| |
2 | g.25161748C>G | CA346067692 | POMC | c.137G>C (p.Cys46Ser)
| gnomAD v4 |
2 | g.25161748C>T | CA346067693 | POMC | c.137G>A (p.Cys46Tyr)
| dbSNP gnomAD v2 gnomAD v4 |