2 | g.25160999A>C | CA2658163017 | POMC | c.*82T>G (n.*82T>G)
| gnomAD v4 |
2 | g.25160999A>G | CA2576693507 | POMC | c.*82T>C (n.*82T>C)
| |
2 | g.25161000G>A | CA767172378 | POMC | c.*81C>T (n.*81C>T)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.25161000G= | CA1239226631 | POMC | c.*81C= (n.*81C=)
| |
2 | g.25161000G>T | CA2658163018 | POMC | c.*81C>A (n.*81C>A)
| gnomAD v4 |
2 | g.25161001G>T | CA2839495531 | POMC | c.*80C>A (n.*80C>A)
| |
2 | g.25161002del | CA2658163020 | POMC | c.*79del (n.*79del)
| gnomAD v4 |
2 | g.25161002C>A | CA767172379 | POMC | c.*79G>T (n.*79G>T)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.25161002C= | CA1239226634 | POMC | c.*79G= (n.*79G=)
| |
2 | g.25161002C>T | CA2658163021 | POMC | c.*79G>A (n.*79G>A)
| gnomAD v4 |
2 | g.25161003G>A | CA43684162 | POMC | c.*78C>T (n.*78C>T)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.25161003G>C | CA767172385 | POMC | c.*78C>G (n.*78C>G)
| dbSNP gnomAD v4 |
2 | g.25161003G= | CA1239226639 | POMC | c.*78C= (n.*78C=)
| |
2 | g.25161003G>T | CA43684164 | POMC | c.*78C>A (n.*78C>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161004G>A | CA2576693508 | POMC | c.*77C>T (n.*77C>T)
| gnomAD v4 |
2 | g.25161004G>T | CA2658163023 | POMC | c.*77C>A (n.*77C>A)
| gnomAD v4 |
2 | g.25161005C>T | CA2658163024 | POMC | c.*76G>A (n.*76G>A)
| gnomAD v4 |
2 | g.25161006A>G | CA2658163025 | POMC | c.*75T>C (n.*75T>C)
| gnomAD v4 |
2 | g.25161006A>T | CA2658163026 | POMC | c.*75T>A (n.*75T>A)
| gnomAD v4 |
2 | g.25161007G>A | CA2658163027 | POMC | c.*74C>T (n.*74C>T)
| gnomAD v4 |
2 | g.25161007G>T | CA2658163028 | POMC | c.*74C>A (n.*74C>A)
| gnomAD v4 |
2 | g.25161008C>A | CA2658163030 | POMC | c.*73G>T (n.*73G>T)
| gnomAD v4 |
2 | g.25161008C>T | CA2658163031 | POMC | c.*73G>A (n.*73G>A)
| gnomAD v4 |
2 | g.25161009A>G | CA2658163032 | POMC | c.*72T>C (n.*72T>C)
| gnomAD v4 |
2 | g.25161010G>A | CA1028505083 | POMC | c.*71C>T (n.*71C>T)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.25161010G= | CA1239226641 | POMC | c.*71C= (n.*71C=)
| |
2 | g.25161010G>T | CA2658163033 | POMC | c.*71C>A (n.*71C>A)
| gnomAD v4 |
2 | g.25161011G>A | CA43684166 | POMC | c.*70C>T (n.*70C>T)
| dbSNP gnomAD v4 |
2 | g.25161011G= | CA1239226643 | POMC | c.*70C= (n.*70C=)
| |
2 | g.25161011G>T | CA2658163034 | POMC | c.*70C>A (n.*70C>A)
| gnomAD v4 |
2 | g.25161012G>A | CA43684169 | POMC | c.*69C>T (n.*69C>T)
| dbSNP gnomAD v4 |
2 | g.25161012G= | CA1239226644 | POMC | c.*69C= (n.*69C=)
| |
2 | g.25161012G>T | CA2658163035 | POMC | c.*69C>A (n.*69C>A)
| gnomAD v4 |
2 | g.25161013C>A | CA2658163036 | POMC | c.*68G>T (n.*68G>T)
| gnomAD v4 |
2 | g.25161014A>C | CA2838335335 | POMC | c.*67T>G (n.*67T>G)
| |
2 | g.25161014A>T | CA2658163037 | POMC | c.*67T>A (n.*67T>A)
| gnomAD v4 |
2 | g.25161014_25161015delinsAG | CA1239226646 | POMC | c.*66_*67delinsCT (n.*66_*67delinsCT)
| |
2 | g.25161015G>A | CA2658163038 | POMC | c.*66C>T (n.*66C>T)
| dbSNP gnomAD v4 |
2 | g.25161015G>T | CA2576693509 | POMC | c.*66C>A (n.*66C>A)
| gnomAD v4 |
2 | g.25161018dup | CA2658163039 | POMC | c.*66dup (n.*66dup)
| gnomAD v4 |
2 | g.25161018del | CA1028505086 | POMC | c.*66del (n.*66del)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.25161016G>T | CA2658163041 | POMC | c.*65C>A (n.*65C>A)
| gnomAD v4 |
2 | g.25161017G>T | CA2658163042 | POMC | c.*64C>A (n.*64C>A)
| gnomAD v4 |
2 | g.25161018G>A | CA10615033 | POMC | c.*63C>T (n.*63C>T)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161018G>C | CA2580577134 | POMC | c.*63C>G (n.*63C>G)
| |
2 | g.25161018G= | CA1239226649 | POMC | c.*63C= (n.*63C=)
| |
2 | g.25161018G>T | CA2580577135 | POMC | c.*63C>A (n.*63C>A)
| gnomAD v4 |
2 | g.25161021_25161022del | CA2658163046 | POMC | c.*62_*63del (n.*62_*63del)
| gnomAD v4 |
2 | g.25161019A>G | CA2658163053 | POMC | c.*62T>C (n.*62T>C)
| gnomAD v4 |
2 | g.25161019dup | CA2658163052 | POMC | c.*62dup (n.*62dup)
| gnomAD v4 |
2 | g.25161020G>A | CA531358039 | POMC | c.*61C>T (n.*61C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161020G= | CA1239226654 | POMC | c.*61C= (n.*61C=)
| |
2 | g.25161020G>T | CA2658163056 | POMC | c.*61C>A (n.*61C>A)
| gnomAD v4 |
2 | g.25161021A>G | CA2658163057 | POMC | c.*60T>C (n.*60T>C)
| gnomAD v4 |
2 | g.25161022del | CA2658163059 | POMC | c.*59del (n.*59del)
| gnomAD v4 |
2 | g.25161022G>T | CA2658163060 | POMC | c.*59C>A (n.*59C>A)
| gnomAD v4 |
2 | g.25161023C>A | CA2838363202 | POMC | c.*58G>T (n.*58G>T)
| |
2 | g.25161023C>G | CA2525791782 | POMC | c.*58G>C (n.*58G>C)
| gnomAD v4 |
2 | g.25161023C>T | CA2699006435 | POMC | c.*58G>A (n.*58G>A)
| dbSNP |
2 | g.25161025A>G | CA2840409588 | POMC | c.*56T>C (n.*56T>C)
| |
2 | g.25161026G>C | CA531358041 | POMC | c.*55C>G (n.*55C>G)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.25161026G= | CA1239226663 | POMC | c.*55C= (n.*55C=)
| |
2 | g.25161026G>T | CA2658163063 | POMC | c.*55C>A (n.*55C>A)
| gnomAD v4 |
2 | g.25161027G>A | CA43684171 | POMC | c.*54C>T (n.*54C>T)
| dbSNP gnomAD v4 |
2 | g.25161027G>C | CA2576693510 | POMC | c.*54C>G (n.*54C>G)
| gnomAD v4 |
2 | g.25161027G= | CA1239226665 | POMC | c.*54C= (n.*54C=)
| |
2 | g.25161028G>A | CA531358042 | POMC | c.*53C>T (n.*53C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161028G= | CA1239226668 | POMC | c.*53C= (n.*53C=)
| |
2 | g.25161028G>T | CA2658163072 | POMC | c.*53C>A (n.*53C>A)
| gnomAD v4 |
2 | g.25161029G>A | CA2658163075 | POMC | c.*52C>T (n.*52C>T)
| gnomAD v4 |
2 | g.25161029G>C | CA2658163077 | POMC | c.*52C>G (n.*52C>G)
| gnomAD v4 |
2 | g.25161029G>T | CA2658163078 | POMC | c.*52C>A (n.*52C>A)
| gnomAD v4 |
2 | g.25161030C= | CA1239226673 | POMC | c.*51G= (n.*51G=)
| |
2 | g.25161030C>T | CA43684174 | POMC | c.*51G>A (n.*51G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161031T>A | CA2658163081 | POMC | c.*50A>T (n.*50A>T)
| gnomAD v4 |
2 | g.25161032T>G | CA2658163084 | POMC | c.*49A>C (n.*49A>C)
| gnomAD v4 |
2 | g.25161034G>T | CA2658163086 | POMC | c.*47C>A (n.*47C>A)
| gnomAD v4 |
2 | g.25161036G>A | CA1028505096 | POMC | c.*45C>T (n.*45C>T)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.25161036G= | CA1239226676 | POMC | c.*45C= (n.*45C=)
| |
2 | g.25161036G>T | CA2658163088 | POMC | c.*45C>A (n.*45C>A)
| gnomAD v4 |
2 | g.25161037G>A | CA1028505102 | POMC | c.*44C>T (n.*44C>T)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.25161037G= | CA1239226677 | POMC | c.*44C= (n.*44C=)
| |
2 | g.25161038T>C | CA2658163091 | POMC | c.*43A>G (n.*43A>G)
| gnomAD v4 |
2 | g.25161039C>A | CA2658163095 | POMC | c.*42G>T (n.*42G>T)
| gnomAD v4 |
2 | g.25161039C= | CA1239226679 | POMC | c.*42G= (n.*42G=)
| |
2 | g.25161039C>G | CA2576693511 | POMC | c.*42G>C (n.*42G>C)
| gnomAD v4 |
2 | g.25161039C>T | CA1555194 | POMC | c.*42G>A (n.*42G>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
2 | g.25161040G>A | CA43684183 | POMC | c.*41C>T (n.*41C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161040G= | CA1239226682 | POMC | c.*41C= (n.*41C=)
| |
2 | g.25161040G>T | CA2658163099 | POMC | c.*41C>A (n.*41C>A)
| gnomAD v4 |
2 | g.25161043C= | CA1239226686 | POMC | c.*38G= (n.*38G=)
| |
2 | g.25161043C>G | CA1028505106 | POMC | c.*38G>C (n.*38G>C)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.25161043C>T | CA1555195 | POMC | c.*38G>A (n.*38G>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25161045C= | CA1239226694 | POMC | c.*36G= (n.*36G=)
| |
2 | g.25161045C>T | CA1555196 | POMC | c.*36G>A (n.*36G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161046C>A | CA2840409589 | POMC | c.*35G>T (n.*35G>T)
| |
2 | g.25161047T>A | CA1239226700 | POMC | c.*34A>T (n.*34A>T)
| dbSNP |
2 | g.25161047T>C | CA1555197 | POMC | c.*34A>G (n.*34A>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161047T= | CA1239226697 | POMC | c.*34A= (n.*34A=)
| |
2 | g.25161047dup | CA2839495529 | POMC | c.*34dup (n.*34dup)
| |
2 | g.25161048G>A | CA43684210 | POMC | c.*33C>T (n.*33C>T)
| dbSNP gnomAD v4 |
2 | g.25161048G>C | CA1555198 | POMC | c.*33C>G (n.*33C>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161048G= | CA1239226704 | POMC | c.*33C= (n.*33C=)
| |
2 | g.25161048G>T | CA646564871 | POMC | c.*33C>A (n.*33C>A)
| gnomAD v4 COSMIC |
2 | g.25161052dup | CA2749203934 | POMC | c.*33dup (n.*33dup)
| |
2 | g.25161052del | CA2840409590 | POMC | c.*33del (n.*33del)
| |
2 | g.25161049G>A | CA767172409 | POMC | c.*32C>T (n.*32C>T)
| dbSNP |
2 | g.25161049G>C | CA1028505112 | POMC | c.*32C>G (n.*32C>G)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.25161049G= | CA1239226708 | POMC | c.*32C= (n.*32C=)
| |
2 | g.25161049G>T | CA2658163117 | POMC | c.*32C>A (n.*32C>A)
| gnomAD v4 |
2 | g.25161050G>A | CA2658163120 | POMC | c.*31C>T (n.*31C>T)
| gnomAD v4 |
2 | g.25161050G= | CA1239226711 | POMC | c.*31C= (n.*31C=)
| |
2 | g.25161050G>T | CA1555199 | POMC | c.*31C>A (n.*31C>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161051G>T | CA2658163124 | POMC | c.*30C>A (n.*30C>A)
| gnomAD v4 |
2 | g.25161052G>A | CA2658163127 | POMC | c.*29C>T (n.*29C>T)
| gnomAD v4 |
2 | g.25161052G>T | CA2658163128 | POMC | c.*29C>A (n.*29C>A)
| gnomAD v4 |
2 | g.25161052_25161053delinsGA | CA1239226712 | POMC | c.*28_*29delinsTC (n.*28_*29delinsTC)
| |
2 | g.25161053del | CA1555200 | POMC | c.*28del (n.*28del)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161053A= | CA1239226717 | POMC | c.*28T= (n.*28T=)
| |
2 | g.25161053A>G | CA1555201 | POMC | c.*28T>C (n.*28T>C)
| dbSNP ExAC gnomAD v4 |
2 | g.25161054G>A | CA1239226720 | POMC | c.*27C>T (n.*27C>T)
| dbSNP gnomAD v4 |
2 | g.25161054G= | CA1239226719 | POMC | c.*27C= (n.*27C=)
| |
2 | g.25161054G>T | CA2840409591 | POMC | c.*27C>A (n.*27C>A)
| |
2 | g.25161056del | CA346064710 | POMC | c.*27del (n.*27del)
| |
2 | g.25161055G= | CA1239226723 | POMC | c.*26C= (n.*26C=)
| |
2 | g.25161055G>T | CA1555202 | POMC | c.*26C>A (n.*26C>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25161056G>C | CA43684236 | POMC | c.*25C>G (n.*25C>G)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.25161056G= | CA1239226727 | POMC | c.*25C= (n.*25C=)
| |
2 | g.25161056G>T | CA1555203 | POMC | c.*25C>A (n.*25C>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25161057T>A | CA2658163143 | POMC | c.*24A>T (n.*24A>T)
| gnomAD v4 |
2 | g.25161057T>C | CA1555204 | POMC | c.*24A>G (n.*24A>G)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25161057T>G | CA1028505119 | POMC | c.*24A>C (n.*24A>C)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.25161057T= | CA1239226736 | POMC | c.*24A= (n.*24A=)
| |
2 | g.25161058A= | CA1239226741 | POMC | c.*23T= (n.*23T=)
| |
2 | g.25161058A>G | CA531358043 | POMC | c.*23T>C (n.*23T>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161059G>A | CA2576693512 | POMC | c.*22C>T (n.*22C>T)
| |
2 | g.25161060C= | CA1239226747 | POMC | c.*21G= (n.*21G=)
| |
2 | g.25161060C>G | CA531358044 | POMC | c.*21G>C (n.*21G>C)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.25161060C>T | CA1555205 | POMC | c.*21G>A (n.*21G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161061C>A | CA2838335332 | POMC | c.*20G>T (n.*20G>T)
| |
2 | g.25161061C= | CA1239226750 | POMC | c.*20G= (n.*20G=)
| |
2 | g.25161061C>T | CA1555206 | POMC | c.*20G>A (n.*20G>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25161062C>A | CA2576693513 | POMC | c.*19G>T (n.*19G>T)
| |
2 | g.25161063T>C | CA1239226754 | POMC | c.*18A>G (n.*18A>G)
| dbSNP |
2 | g.25161063T= | CA1239226753 | POMC | c.*18A= (n.*18A=)
| |
2 | g.25161065G>A | CA1555207 | POMC | c.*16C>T (n.*16C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161065G= | CA1239226756 | POMC | c.*16C= (n.*16C=)
| |
2 | g.25161065_25161068del | CA2749203935 | POMC | c.*13_*16del (n.*13_*16del)
| |
2 | g.25161066G>A | CA1555208 | POMC | c.*15C>T (n.*15C>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25161066G>C | CA767172418 | POMC | c.*15C>G (n.*15C>G)
| dbSNP |
2 | g.25161066G= | CA1239226759 | POMC | c.*15C= (n.*15C=)
| |
2 | g.25161067G>A | CA2658163160 | POMC | c.*14C>T (n.*14C>T)
| dbSNP gnomAD v4 |
2 | g.25161067G= | CA1239226764 | POMC | c.*14C= (n.*14C=)
| |
2 | g.25161067G>T | CA1239226763 | POMC | c.*14C>A (n.*14C>A)
| dbSNP gnomAD v4 |
2 | g.25161067_25161068delinsGC | CA1239226766 | POMC | c.*13_*14delinsGC (n.*13_*14delinsGC)
| |
2 | g.25161071dup | CA2658163161 | POMC | c.*13dup (n.*13dup)
| gnomAD v4 |
2 | g.25161071del | CA43684261 | POMC | c.*13del (n.*13del)
| dbSNP |
2 | g.25161069C= | CA1239226771 | POMC | c.*12G= (n.*12G=)
| |
2 | g.25161069C>G | CA1555209 | POMC | c.*12G>C (n.*12G>C)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161069C>T | CA531358046 | POMC | c.*12G>A (n.*12G>A)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.25161071C>A | CA531358047 | POMC | c.*10G>T (n.*10G>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161071C= | CA1239226774 | POMC | c.*10G= (n.*10G=)
| |
2 | g.25161071C>G | CA2698784226 | POMC | c.*10G>C (n.*10G>C)
| dbSNP |
2 | g.25161071C>T | CA43684269 | POMC | c.*10G>A (n.*10G>A)
| dbSNP gnomAD v4 |
2 | g.25161072G>A | CA531358049 | POMC | c.*9C>T (n.*9C>T)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.25161072G= | CA1239226777 | POMC | c.*9C= (n.*9C=)
| |
2 | g.25161073C= | CA1239226779 | POMC | c.*8G= (n.*8G=)
| |
2 | g.25161073C>T | CA531358050 | POMC | c.*8G>A (n.*8G>A)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.25161075G>A | CA2658163183 | POMC | c.*6C>T (n.*6C>T)
| gnomAD v4 |
2 | g.25161075G>T | CA2658163184 | POMC | c.*6C>A (n.*6C>A)
| gnomAD v4 |
2 | g.25161076T>C | CA2749203936 | POMC | c.*5A>G (n.*5A>G)
| |
2 | g.25161078_25161079insGA | CA2658163186 | POMC | c.*2_*3insTC (n.*2_*3insTC)
| gnomAD v4 |
2 | g.25161079C= | CA1239226781 | POMC | c.*2G= (n.*2G=)
| |
2 | g.25161079C>T | CA531358051 | POMC | c.*2G>A (n.*2G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161081T>A | CA346064725 | POMC | c.804A>T (p.Ter268Cys)
| |
2 | g.25161081T>C | CA346064723 | POMC | c.804A>G (p.Ter268Trp)
| |
2 | g.25161081T>G | CA346064727 | POMC | c.804A>C (p.Ter268Cys)
| |
2 | g.25161082C>A | CA346064728 | POMC | c.803G>T (p.Ter268Leu)
| |
2 | g.25161082C= | CA1239226784 | POMC | c.803G= (p.Ter268=)
| |
2 | g.25161082C>G | CA346064730 | POMC | c.803G>C (p.Ter268Ser)
| |
2 | g.25161082C>T | CA425179054 | POMC | c.803G>A (p.Ter268=)
| dbSNP |
2 | g.25161083A= | CA1239226789 | POMC | c.802T= (p.Ter268=)
| |
2 | g.25161083A>C | CA346064732 | POMC | c.802T>G (p.Ter268Gly)
| |
2 | g.25161083A>G | CA346064734 | POMC | c.802T>C (p.Ter268Arg)
| |
2 | g.25161083A>T | CA43684277 | POMC | c.802T>A (p.Ter268Arg)
| dbSNP |
2 | g.25161101_25161102insAACTCGCCCTTCTTGTAGGC | CA2658163187 | POMC | c.802_803insTGCCTACAAGAAGGGCGAGT (p.Ter268LeuextTer?)
| gnomAD v4 |
2 | g.25161084C>A | CA346064736 | POMC | c.801G>T (p.Glu267Asp)
| |
2 | g.25161084C= | CA1239226793 | POMC | c.801G= (p.Glu267=)
| |
2 | g.25161084C>G | CA346064737 | POMC | c.801G>C (p.Glu267Asp)
| |
2 | g.25161084C>T | CA1555210 | POMC | c.801G>A (p.Glu267=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161085T>A | CA346064741 | POMC | c.800A>T (p.Glu267Val)
| |
2 | g.25161085T>C | CA346064743 | POMC | c.800A>G (p.Glu267Gly)
| |
2 | g.25161085T>G | CA346064744 | POMC | c.800A>C (p.Glu267Ala)
| |
2 | g.25161086C>A | CA346064748 | POMC | c.799G>T (p.Glu267Ter)
| COSMIC |
2 | g.25161086C>G | CA346064750 | POMC | c.799G>C (p.Glu267Gln)
| |
2 | g.25161086C>T | CA346064753 | POMC | c.799G>A (p.Glu267Lys)
| gnomAD v4 COSMIC |
2 | g.25161086_25161098delinsCGCCCTTCTTGTA | CA1239226800 | POMC | c.787_799delinsTACAAGAAGGGCG (p.Tyr263=)
| |
2 | g.25161087G>A | CA1555211 | POMC | c.798C>T (p.Gly266=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
2 | g.25161087G>C | CA425179055 | POMC | c.798C>G (p.Gly266=)
| |
2 | g.25161087G= | CA1239226805 | POMC | c.798C= (p.Gly266=)
| |
2 | g.25161087G>T | CA425179056 | POMC | c.798C>A (p.Gly266=)
| |
2 | g.25161088_25161099del | CA43684282 | POMC | c.787_798del (p.Tyr263_Gly266del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161088C>A | CA346064759 | POMC | c.797G>T (p.Gly266Val)
| |
2 | g.25161088C= | CA1239226810 | POMC | c.797G= (p.Gly266=)
| |
2 | g.25161088C>G | CA346064761 | POMC | c.797G>C (p.Gly266Ala)
| |
2 | g.25161088C>T | CA346064763 | POMC | c.797G>A (p.Gly266Asp)
| dbSNP |
2 | g.25161089C>A | CA346064765 | POMC | c.796G>T (p.Gly266Cys)
| |
2 | g.25161089C= | CA1239226812 | POMC | c.796G= (p.Gly266=)
| |
2 | g.25161089C>G | CA346064767 | POMC | c.796G>C (p.Gly266Arg)
| |
2 | g.25161089C>T | CA1555212 | POMC | c.796G>A (p.Gly266Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25161089_25161090insTACAAGAAGGGC | CA531358056 | POMC | c.796_797insCCCTTCTTGTAG (p.Lys265_Gly266insAlaLeuLeuVal)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.25161090C>A | CA346064770 | POMC | c.795G>T (p.Lys265Asn)
| |
2 | g.25161090C= | CA1239226818 | POMC | c.795G= (p.Lys265=)
| |
2 | g.25161090C>G | CA346064772 | POMC | c.795G>C (p.Lys265Asn)
| |
2 | g.25161090C>T | CA1555213 | POMC | c.795G>A (p.Lys265=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.25161090_25161102delinsCTTCTTGTAGGCG | CA1239226820 | POMC | c.783_795delinsCGCCTACAAGAAG (p.Asn261=)
| |
2 | g.25161091T>A | CA346066008 | POMC | c.794A>T (p.Lys265Met)
| |
2 | g.25161091T>C | CA346066013 | POMC | c.794A>G (p.Lys265Arg)
| |
2 | g.25161091T>G | CA346066015 | POMC | c.794A>C (p.Lys265Thr)
| |
2 | g.25161097_25161108del | CA531760826 | POMC | c.783_794del (p.Asn261_Lys264del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161092T>A | CA346066019 | POMC | c.793A>T (p.Lys265Ter)
| |
2 | g.25161092T>C | CA346066018 | POMC | c.793A>G (p.Lys265Glu)
| |
2 | g.25161092T>G | CA346066017 | POMC | c.793A>C (p.Lys265Gln)
| |
2 | g.25161093C>A | CA346066022 | POMC | c.792G>T (p.Lys264Asn)
| |
2 | g.25161093C= | CA1239226826 | POMC | c.792G= (p.Lys264=)
| |
2 | g.25161093C>G | CA346066024 | POMC | c.792G>C (p.Lys264Asn)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.25161093C>T | CA425352822 | POMC | c.792G>A (p.Lys264=)
| |
2 | g.25161094T>A | CA346066025 | POMC | c.791A>T (p.Lys264Met)
| |
2 | g.25161094T>C | CA346066026 | POMC | c.791A>G (p.Lys264Arg)
| dbSNP |
2 | g.25161094T>G | CA346066029 | POMC | c.791A>C (p.Lys264Thr)
| |
2 | g.25161094T= | CA1239226830 | POMC | c.791A= (p.Lys264=)
| |
2 | g.25161095T>A | CA346066031 | POMC | c.790A>T (p.Lys264Ter)
| |
2 | g.25161095T>C | CA346066033 | POMC | c.790A>G (p.Lys264Glu)
| |
2 | g.25161095T>G | CA346066035 | POMC | c.790A>C (p.Lys264Gln)
| |
2 | g.25161096G>A | CA425352827 | POMC | c.789C>T (p.Tyr263=)
| |
2 | g.25161096G>C | CA346066036 | POMC | c.789C>G (p.Tyr263Ter)
| gnomAD v4 |
2 | g.25161096G>T | CA346066038 | POMC | c.789C>A (p.Tyr263Ter)
| |
2 | g.25161097T>A | CA346066040 | POMC | c.788A>T (p.Tyr263Phe)
| |
2 | g.25161097T>C | CA346066041 | POMC | c.788A>G (p.Tyr263Cys)
| gnomAD v4 |
2 | g.25161097T>G | CA346066042 | POMC | c.788A>C (p.Tyr263Ser)
| |
2 | g.25161098A= | CA1239226833 | POMC | c.787T= (p.Tyr263=)
| |
2 | g.25161098A>C | CA346066047 | POMC | c.787T>G (p.Tyr263Asp)
| |
2 | g.25161098A>G | CA346066043 | POMC | c.787T>C (p.Tyr263His)
| |
2 | g.25161098A>T | CA346066045 | POMC | c.787T>A (p.Tyr263Asn)
| |
2 | g.25161099G>A | CA425352832 | POMC | c.786C>T (p.Ala262=)
| dbSNP |
2 | g.25161099G>C | CA425352835 | POMC | c.786C>G (p.Ala262=)
| |
2 | g.25161099G= | CA1239226837 | POMC | c.786C= (p.Ala262=)
| |
2 | g.25161099G>T | CA425352834 | POMC | c.786C>A (p.Ala262=)
| |
2 | g.25161099_25161111dup | CA916494168 | POMC | c.774_786dup (p.Tyr263HisfsTer?)
| dbSNP gnomAD v3 gnomAD v4 |