Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.25164712A>C | CA346067866 | POMC | c.61T>G (p.Ser21Ala) | |
2 | g.25164712A>G | CA346067867 | POMC | c.61T>C (p.Ser21Pro) | |
2 | g.25164712A>T | CA346067868 | POMC | c.61T>A (p.Ser21Thr) | |
2 | g.25164713G>A | CA425180725 | POMC | c.60C>T (p.Ala20=) | |
2 | g.25164713G>C | CA425180726 | POMC | c.60C>G (p.Ala20=) | |
2 | g.25164713G>T | CA425180727 | POMC | c.60C>A (p.Ala20=) | |
2 | g.25164714G>A | CA346067870 | POMC | c.59C>T (p.Ala20Val) | |
2 | g.25164714G>C | CA346067871 | POMC | c.59C>G (p.Ala20Gly) | dbSNP gnomAD v2 |
2 | g.25164714G= | CA1239231715 | POMC | c.59C= (p.Ala20=) | |
2 | g.25164714G>T | CA346067869 | POMC | c.59C>A (p.Ala20Asp) | |
2 | g.25164715C>A | CA346067872 | POMC | c.58G>T (p.Ala20Ser) | |
2 | g.25164715C>G | CA346067873 | POMC | c.58G>C (p.Ala20Pro) | |
2 | g.25164715C>T | CA346067874 | POMC | c.58G>A (p.Ala20Thr) | |
2 | g.25164716C>A | CA346067875 | POMC | c.57G>T (p.Gln19His) | |
2 | g.25164716C>G | CA346067876 | POMC | c.57G>C (p.Gln19His) | |
2 | g.25164716C>T | CA425180729 | POMC | c.57G>A (p.Gln19=) | |
2 | g.25164717T>A | CA346067879 | POMC | c.56A>T (p.Gln19Leu) | |
2 | g.25164717T>C | CA1555413 | POMC | c.56A>G (p.Gln19Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25164717T>G | CA346067878 | POMC | c.56A>C (p.Gln19Pro) | |
2 | g.25164717T= | CA1239231719 | POMC | c.56A= (p.Gln19=) | |
2 | g.25164718G>A | CA1555414 | POMC | c.55C>T (p.Gln19Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25164718G>C | CA346067880 | POMC | c.55C>G (p.Gln19Glu) | |
2 | g.25164718G= | CA1239231726 | POMC | c.55C= (p.Gln19=) | |
2 | g.25164718G>T | CA346067881 | POMC | c.55C>A (p.Gln19Lys) | |
2 | g.25164719A>C | CA425180731 | POMC | c.54T>G (p.Leu18=) | |
2 | g.25164719A>G | CA425180732 | POMC | c.54T>C (p.Leu18=) | |
2 | g.25164719A>T | CA425180733 | POMC | c.54T>A (p.Leu18=) | |
2 | g.25164720A>C | CA346067882 | POMC | c.53T>G (p.Leu18Arg) | |
2 | g.25164720A>G | CA346067883 | POMC | c.53T>C (p.Leu18Pro) | |
2 | g.25164720A>T | CA346067884 | POMC | c.53T>A (p.Leu18His) | |
2 | g.25164721G>A | CA346067886 | POMC | c.52C>T (p.Leu18Phe) | |
2 | g.25164721G>C | CA346067887 | POMC | c.52C>G (p.Leu18Val) | |
2 | g.25164721G>T | CA346067885 | POMC | c.52C>A (p.Leu18Ile) | |
2 | g.25164722C>A | CA425180735 | POMC | c.51G>T (p.Leu17=) | |
2 | g.25164722C= | CA1239231734 | POMC | c.51G= (p.Leu17=) | |
2 | g.25164722C>G | CA425180736 | POMC | c.51G>C (p.Leu17=) | dbSNP |
2 | g.25164722C>T | CA425180737 | POMC | c.51G>A (p.Leu17=) | dbSNP gnomAD v2 |
2 | g.25164723A>C | CA346067888 | POMC | c.50T>G (p.Leu17Arg) | |
2 | g.25164723A>G | CA346067890 | POMC | c.50T>C (p.Leu17Pro) | |
2 | g.25164723A>T | CA346067889 | POMC | c.50T>A (p.Leu17Gln) | |
2 | g.25164724G>A | CA425180739 | POMC | c.49C>T (p.Leu17=) | |
2 | g.25164724G>C | CA346067891 | POMC | c.49C>G (p.Leu17Val) | |
2 | g.25164724G>T | CA346067892 | POMC | c.49C>A (p.Leu17Met) | |
2 | g.25164724_25164725delinsGC | CA1239231739 | POMC | c.48_49delinsGC (p.Leu16=) | |
2 | g.25164725del | CA767151247 | POMC | c.48del (p.Leu16PhefsTer?) | ClinVar dbSNP gnomAD v4 |
2 | g.25164725C>A | CA346067893 | POMC | c.48G>T (p.Leu16Phe) | |
2 | g.25164725C>G | CA346067894 | POMC | c.48G>C (p.Leu16Phe) | |
2 | g.25164725C>T | CA425180740 | POMC | c.48G>A (p.Leu16=) | |
2 | g.25164726A>C | CA346067895 | POMC | c.47T>G (p.Leu16Trp) | |
2 | g.25164726A>G | CA346067896 | POMC | c.47T>C (p.Leu16Ser) | |
2 | g.25164726A>T | CA346067897 | POMC | c.47T>A (p.Leu16Ter) | |
2 | g.25164727A>C | CA346067898 | POMC | c.46T>G (p.Leu16Val) | |
2 | g.25164727A>G | CA425180742 | POMC | c.46T>C (p.Leu16=) | |
2 | g.25164727A>T | CA346067899 | POMC | c.46T>A (p.Leu16Met) | |
2 | g.25164728G>A | CA425180743 | POMC | c.45C>T (p.Ala15=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.25164728G>C | CA425180744 | POMC | c.45C>G (p.Ala15=) | |
2 | g.25164728G= | CA1239231743 | POMC | c.45C= (p.Ala15=) | |
2 | g.25164728G>T | CA425180745 | POMC | c.45C>A (p.Ala15=) | |
2 | g.25164729G>A | CA346067900 | POMC | c.44C>T (p.Ala15Val) | dbSNP COSMIC |
2 | g.25164729G>C | CA1555416 | POMC | c.44C>G (p.Ala15Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25164729G= | CA1239231747 | POMC | c.44C= (p.Ala15=) | |
2 | g.25164729G>T | CA346067901 | POMC | c.44C>A (p.Ala15Asp) | |
2 | g.25164729_25164730insGGGC | CA1555415 | POMC | c.43_44insGCCC (p.Ala15GlyfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25164730C>A | CA346067902 | POMC | c.43G>T (p.Ala15Ser) | |
2 | g.25164730C= | CA1239231754 | POMC | c.43G= (p.Ala15=) | |
2 | g.25164730C>G | CA346067903 | POMC | c.43G>C (p.Ala15Pro) | |
2 | g.25164730C>T | CA346067904 | POMC | c.43G>A (p.Ala15Thr) | dbSNP |
2 | g.25164731C>A | CA425180748 | POMC | c.42G>T (p.Leu14=) | |
2 | g.25164731C>G | CA425180747 | POMC | c.42G>C (p.Leu14=) | |
2 | g.25164731C>T | CA425180749 | POMC | c.42G>A (p.Leu14=) | |
2 | g.25164732A>C | CA346067905 | POMC | c.41T>G (p.Leu14Arg) | |
2 | g.25164732A>G | CA346067907 | POMC | c.41T>C (p.Leu14Pro) | |
2 | g.25164732A>T | CA346067906 | POMC | c.41T>A (p.Leu14Gln) | |
2 | g.25164733G>A | CA425180751 | POMC | c.40C>T (p.Leu14=) | dbSNP |
2 | g.25164733G>C | CA346067908 | POMC | c.40C>G (p.Leu14Val) | |
2 | g.25164733G= | CA1239231758 | POMC | c.40C= (p.Leu14=) | |
2 | g.25164733G>T | CA346067909 | POMC | c.40C>A (p.Leu14Met) | |
2 | g.25164734C>A | CA346067910 | POMC | c.39G>T (p.Leu13Phe) | |
2 | g.25164734C>G | CA346067911 | POMC | c.39G>C (p.Leu13Phe) | |
2 | g.25164734C>T | CA425180752 | POMC | c.39G>A (p.Leu13=) | |
2 | g.25164734dup | CA767151262 | POMC | c.39dup (p.Leu14AlafsTer?) | dbSNP |
2 | g.25164735A>C | CA346067912 | POMC | c.38T>G (p.Leu13Trp) | |
2 | g.25164735A>G | CA346067913 | POMC | c.38T>C (p.Leu13Ser) | |
2 | g.25164735A>T | CA346067914 | POMC | c.38T>A (p.Leu13Ter) | |
2 | g.25164736A= | CA1239231769 | POMC | c.37T= (p.Leu13=) | |
2 | g.25164736A>C | CA346067915 | POMC | c.37T>G (p.Leu13Val) | |
2 | g.25164736A>G | CA1555417 | POMC | c.37T>C (p.Leu13=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25164736A>T | CA346067916 | POMC | c.37T>A (p.Leu13Met) | |
2 | g.25164737C>A | CA425180754 | POMC | c.36G>T (p.Leu12=) | |
2 | g.25164737C= | CA1239231771 | POMC | c.36G= (p.Leu12=) | |
2 | g.25164737C>G | CA425180755 | POMC | c.36G>C (p.Leu12=) | |
2 | g.25164737C>T | CA425180756 | POMC | c.36G>A (p.Leu12=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.25164738A= | CA1239231777 | POMC | c.35T= (p.Leu12=) | |
2 | g.25164738A>C | CA346067918 | POMC | c.35T>G (p.Leu12Arg) | |
2 | g.25164738A>G | CA346067919 | POMC | c.35T>C (p.Leu12Pro) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.25164738A>T | CA346067917 | POMC | c.35T>A (p.Leu12Gln) | |
2 | g.25164738_25164739delinsAG | CA1239231778 | POMC | c.34_35delinsCT (p.Leu12=) | |
2 | g.25164739G>A | CA425180758 | POMC | c.34C>T (p.Leu12=) | dbSNP gnomAD v4 |
2 | g.25164739G>C | CA346067920 | POMC | c.34C>G (p.Leu12Val) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.25164739G= | CA1239231786 | POMC | c.34C= (p.Leu12=) | |
2 | g.25164739G>T | CA346067921 | POMC | c.34C>A (p.Leu12Met) | |
2 | g.25164741del | CA1239231784 | POMC | c.34del (p.Leu12CysfsTer?) | ClinVar dbSNP gnomAD v4 |
2 | g.25164740G>A | CA425180759 | POMC | c.33C>T (p.Ala11=) | gnomAD v4 |
2 | g.25164740G>C | CA425180760 | POMC | c.33C>G (p.Ala11=) | gnomAD v4 |
2 | g.25164740G>T | CA425180761 | POMC | c.33C>A (p.Ala11=) | |
2 | g.25164741G>A | CA346067922 | POMC | c.32C>T (p.Ala11Val) | COSMIC |
2 | g.25164741G>C | CA346067923 | POMC | c.32C>G (p.Ala11Gly) | |
2 | g.25164741G= | CA1239231793 | POMC | c.32C= (p.Ala11=) | |
2 | g.25164741G>T | CA346067924 | POMC | c.32C>A (p.Ala11Asp) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.25164742C>A | CA346067926 | POMC | c.31G>T (p.Ala11Ser) | gnomAD v4 |
2 | g.25164742C= | CA1239231797 | POMC | c.31G= (p.Ala11=) | |
2 | g.25164742C>G | CA346067925 | POMC | c.31G>C (p.Ala11Pro) | |
2 | g.25164742C>T | CA1555418 | POMC | c.31G>A (p.Ala11Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25164746dup | CA531359234 | POMC | c.31dup (p.Ala11GlyfsTer?) | dbSNP gnomAD v2 |
2 | g.25164743C>A | CA425180762 | POMC | c.30G>T (p.Gly10=) | |
2 | g.25164743C= | CA1239231800 | POMC | c.30G= (p.Gly10=) | |
2 | g.25164743C>G | CA425180764 | POMC | c.30G>C (p.Gly10=) | |
2 | g.25164743C>T | CA425180765 | POMC | c.30G>A (p.Gly10=) | dbSNP gnomAD v4 |
2 | g.25164744C>A | CA1555419 | POMC | c.29G>T (p.Gly10Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25164744C= | CA1239231805 | POMC | c.29G= (p.Gly10=) | |
2 | g.25164744C>G | CA346067927 | POMC | c.29G>C (p.Gly10Ala) | gnomAD v4 |
2 | g.25164744C>T | CA346067928 | POMC | c.29G>A (p.Gly10Glu) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.25164745C>A | CA346067929 | POMC | c.28G>T (p.Gly10Trp) | |
2 | g.25164745C>G | CA346067930 | POMC | c.28G>C (p.Gly10Arg) | |
2 | g.25164745C>T | CA346067931 | POMC | c.28G>A (p.Gly10Arg) | |
2 | g.25164746C>A | CA425180769 | POMC | c.27G>T (p.Ser9=) | |
2 | g.25164746C= | CA1239231808 | POMC | c.27G= (p.Ser9=) | |
2 | g.25164746C>G | CA425180768 | POMC | c.27G>C (p.Ser9=) | |
2 | g.25164746C>T | CA425180767 | POMC | c.27G>A (p.Ser9=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
2 | g.25164747G>A | CA1555420 | POMC | c.26C>T (p.Ser9Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25164747G>C | CA346067933 | POMC | c.26C>G (p.Ser9Trp) | |
2 | g.25164747G= | CA1239231815 | POMC | c.26C= (p.Ser9=) | |
2 | g.25164747G>T | CA346067932 | POMC | c.26C>A (p.Ser9Ter) | gnomAD v4 |
2 | g.25164748A>C | CA346067934 | POMC | c.25T>G (p.Ser9Ala) | gnomAD v4 |
2 | g.25164748A>G | CA346067935 | POMC | c.25T>C (p.Ser9Pro) | |
2 | g.25164748A>T | CA346067936 | POMC | c.25T>A (p.Ser9Thr) | |
2 | g.25164749G>A | CA425180771 | POMC | c.24C>T (p.Arg8=) | |
2 | g.25164749G>C | CA425180772 | POMC | c.24C>G (p.Arg8=) | |
2 | g.25164749G>T | CA425180774 | POMC | c.24C>A (p.Arg8=) | |
2 | g.25164750C>A | CA346067937 | POMC | c.23G>T (p.Arg8Leu) | dbSNP gnomAD v4 |
2 | g.25164750C= | CA1239231823 | POMC | c.23G= (p.Arg8=) | |
2 | g.25164750C>G | CA346067938 | POMC | c.23G>C (p.Arg8Pro) | |
2 | g.25164750C>T | CA1555421 | POMC | c.23G>A (p.Arg8His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.25164751G>A | CA43686574 | POMC | c.22C>T (p.Arg8Cys) | ClinVar dbSNP gnomAD v4 COSMIC |
2 | g.25164751G>C | CA346067939 | POMC | c.22C>G (p.Arg8Gly) | |
2 | g.25164751G= | CA1239231829 | POMC | c.22C= (p.Arg8=) | |
2 | g.25164751G>T | CA346067940 | POMC | c.22C>A (p.Arg8Ser) | |
2 | g.25164752G>A | CA425180777 | POMC | c.21C>T (p.Ser7=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25164752G>C | CA346067941 | POMC | c.21C>G (p.Ser7Arg) | |
2 | g.25164752G= | CA1239231832 | POMC | c.21C= (p.Ser7=) | |
2 | g.25164752G>T | CA346067942 | POMC | c.21C>A (p.Ser7Arg) | |
2 | g.25164753C>A | CA346067944 | POMC | c.20G>T (p.Ser7Ile) | |
2 | g.25164753C>G | CA346067945 | POMC | c.20G>C (p.Ser7Thr) | gnomAD v4 |
2 | g.25164753C>T | CA346067943 | POMC | c.20G>A (p.Ser7Asn) | |
2 | g.25164753_25164754insCACCCGAGGGGCCCCCGAGGGCCCC | CA1555422 | POMC | c.20_21insGGGCCCTCGGGGGCCCCTCGGGTGG (p.Ser7ArgfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25164754T>A | CA346067948 | POMC | c.19A>T (p.Ser7Cys) | |
2 | g.25164754T>C | CA346067946 | POMC | c.19A>G (p.Ser7Gly) | |
2 | g.25164754T>G | CA346067947 | POMC | c.19A>C (p.Ser7Arg) | |
2 | g.25164755G>A | CA1555423 | POMC | c.18C>T (p.Cys6=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25164755G>C | CA346067949 | POMC | c.18C>G (p.Cys6Trp) | |
2 | g.25164755G= | CA1239231849 | POMC | c.18C= (p.Cys6=) | |
2 | g.25164755G>T | CA346067950 | POMC | c.18C>A (p.Cys6Ter) | |
2 | g.25164755_25164756delinsGC | CA1239231855 | POMC | c.17_18delinsGC (p.Cys6=) | |
2 | g.25164756del | CA1555424 | POMC | c.17del (p.Cys6SerfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25164756C>A | CA346067951 | POMC | c.17G>T (p.Cys6Phe) | |
2 | g.25164756C= | CA1239231864 | POMC | c.17G= (p.Cys6=) | |
2 | g.25164756C>G | CA1555425 | POMC | c.17G>C (p.Cys6Ser) | dbSNP ExAC gnomAD v4 |
2 | g.25164756C>T | CA346067952 | POMC | c.17G>A (p.Cys6Tyr) | |
2 | g.25164757A= | CA1239231869 | POMC | c.16T= (p.Cys6=) | |
2 | g.25164757A>C | CA346067953 | POMC | c.16T>G (p.Cys6Gly) | |
2 | g.25164757A>G | CA1555426 | POMC | c.16T>C (p.Cys6Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25164757A>T | CA346067954 | POMC | c.16T>A (p.Cys6Ser) | dbSNP |
2 | g.25164758G>A | CA425180779 | POMC | c.15C>T (p.Cys5=) | gnomAD v4 |
2 | g.25164758G>C | CA346067955 | POMC | c.15C>G (p.Cys5Trp) | |
2 | g.25164758G>T | CA346067956 | POMC | c.15C>A (p.Cys5Ter) | |
2 | g.25164759C>A | CA346067957 | POMC | c.14G>T (p.Cys5Phe) | |
2 | g.25164759C= | CA1239231873 | POMC | c.14G= (p.Cys5=) | |
2 | g.25164759C>G | CA346067958 | POMC | c.14G>C (p.Cys5Ser) | |
2 | g.25164759C>T | CA1555427 | POMC | c.14G>A (p.Cys5Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25164760A>C | CA346067959 | POMC | c.13T>G (p.Cys5Gly) | |
2 | g.25164760A>G | CA346067960 | POMC | c.13T>C (p.Cys5Arg) | gnomAD v4 |
2 | g.25164760A>T | CA346067961 | POMC | c.13T>A (p.Cys5Ser) | |
2 | g.25164761C>A | CA425180781 | POMC | c.12G>T (p.Ser4=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25164761C= | CA1239231879 | POMC | c.12G= (p.Ser4=) | |
2 | g.25164761C>G | CA1555428 | POMC | c.12G>C (p.Ser4=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25164761C>T | CA1555429 | POMC | c.12G>A (p.Ser4=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.25164763_25164768del | CA2576693539 | POMC | c.7_12del (p.Arg3_Ser4del) | |
2 | g.25164762G>A | CA1555430 | POMC | c.11C>T (p.Ser4Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.25164762G>C | CA346067962 | POMC | c.11C>G (p.Ser4Trp) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.25164762G= | CA1239231887 | POMC | c.11C= (p.Ser4=) | |
2 | g.25164762G>T | CA346067963 | POMC | c.11C>A (p.Ser4Ter) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.25164763A= | CA1239231891 | POMC | c.10T= (p.Ser4=) | |
2 | g.25164763A>C | CA346067965 | POMC | c.10T>G (p.Ser4Ala) | gnomAD v4 |
2 | g.25164763A>G | CA346067966 | POMC | c.10T>C (p.Ser4Pro) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.25164763A>T | CA346067964 | POMC | c.10T>A (p.Ser4Thr) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.25164764T>A | CA346067967 | POMC | c.9A>T (p.Arg3Ser) | |
2 | g.25164764T>C | CA425180783 | POMC | c.9A>G (p.Arg3=) | gnomAD v4 |
2 | g.25164764T>G | CA346067968 | POMC | c.9A>C (p.Arg3Ser) | |
2 | g.25164765C>A | CA346067969 | POMC | c.8G>T (p.Arg3Ile) | |
2 | g.25164765C>G | CA346067970 | POMC | c.8G>C (p.Arg3Thr) | |
2 | g.25164765C>T | CA346067971 | POMC | c.8G>A (p.Arg3Lys) | |
2 | g.25164766T>A | CA346067972 | POMC | c.7A>T (p.Arg3Ter) | |
2 | g.25164766T>C | CA346067973 | POMC | c.7A>G (p.Arg3Gly) | |
2 | g.25164766T>G | CA425180786 | POMC | c.7A>C (p.Arg3=) | |
2 | g.25164767C>A | CA425180787 | POMC | c.6G>T (p.Pro2=) | |
2 | g.25164767C= | CA1239231896 | POMC | c.6G= (p.Pro2=) | |
2 | g.25164767C>G | CA425180788 | POMC | c.6G>C (p.Pro2=) | |
2 | g.25164767C>T | CA43686616 | POMC | c.6G>A (p.Pro2=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.25164768G>A | CA346067974 | POMC | c.5C>T (p.Pro2Leu) | dbSNP gnomAD v4 |
2 | g.25164768G>C | CA346067975 | POMC | c.5C>G (p.Pro2Arg) | |
2 | g.25164768G= | CA1239231899 | POMC | c.5C= (p.Pro2=) | |
2 | g.25164768G>T | CA346067976 | POMC | c.5C>A (p.Pro2Gln) | COSMIC |
2 | g.25164769G>A | CA1555431 | POMC | c.4C>T (p.Pro2Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25164769G>C | CA346067977 | POMC | c.4C>G (p.Pro2Ala) | |
2 | g.25164769G= | CA1239231909 | POMC | c.4C= (p.Pro2=) | |
2 | g.25164769G>T | CA346067978 | POMC | c.4C>A (p.Pro2Thr) | |
2 | g.25164770C>A | CA346067979 | POMC | c.3G>T (p.Met1Ile) | |
2 | g.25164770C>G | CA346067981 | POMC | c.3G>C (p.Met1Ile) | |
2 | g.25164770C>T | CA346067980 | POMC | c.3G>A (p.Met1Ile) | |
2 | g.25164771A>C | CA346067982 | POMC | c.2T>G (p.Met1Arg) | |
2 | g.25164771A>G | CA346067983 | POMC | c.2T>C (p.Met1Thr) | |
2 | g.25164771A>T | CA346067984 | POMC | c.2T>A (p.Met1Lys) | |
2 | g.25164772T>A | CA346067985 | POMC | c.1A>T (p.Met1Leu) | gnomAD v4 |
2 | g.25164772T>C | CA346067986 | POMC | c.1A>G (p.Met1Val) | gnomAD v4 |
2 | g.25164772T>G | CA346067987 | POMC | c.1A>C (p.Met1Leu) | |
2 | g.25164773C>A | CA2658160664 | POMC | c.-1G>T (n.-1G>T) | gnomAD v4 |
2 | g.25164773C= | CA1239231911 | POMC | c.-1G= (n.-1G=) | |
2 | g.25164773C>T | CA43686622 | POMC | c.-1G>A (n.-1G>A) | dbSNP |
2 | g.25164774T>A | CA2658160666 | POMC | c.-2A>T (n.-2A>T) | gnomAD v4 |
2 | g.25164776C= | CA1239231914 | POMC | c.-4G= (n.-4G=) | |
2 | g.25164776C>T | CA1555432 | POMC | c.-4G>A (n.-4G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25164777C= | CA1239231915 | POMC | c.-5G= (n.-5G=) | |
2 | g.25164777C>T | CA767151336 | POMC | c.-5G>A (n.-5G>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.25164779G>A | CA767151340 | POMC | c.-7C>T (n.-7C>T) | dbSNP |
2 | g.25164779G= | CA1239231918 | POMC | c.-7C= (n.-7C=) | |
2 | g.25164780G>C | CA2658160668 | POMC | c.-8C>G (n.-8C>G) | gnomAD v4 |
2 | g.25164781C= | CA1239231920 | POMC | c.-9G= (n.-9G=) | |
2 | g.25164781C>T | CA1555433 | POMC | c.-9G>A (n.-9G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25164783G>A | CA2749204021 | POMC | c.-11C>T (n.-11C>T) | |
2 | g.25164783G= | CA1239231923 | POMC | c.-11C= (n.-11C=) | |
2 | g.25164783G>T | CA256770 | POMC | c.-11C>A (n.-11C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25164784G= | CA1239231929 | POMC | c.-12C= (n.-12C=) | |
2 | g.25164784G>T | CA1555434 | POMC | c.-12C>A (n.-12C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25164786_25164787insCC | CA2749204022 | POMC | c.-15_-14insGG (n.-15_-14insGG) | |
2 | g.25164787G>A | CA1555435 | POMC | c.-15C>T (n.-15C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25164787G>C | CA1239231934 | POMC | c.-15C>G (n.-15C>G) | dbSNP |
2 | g.25164787G= | CA1239231932 | POMC | c.-15C= (n.-15C=) | |
2 | g.25164787_25164788insTCGA | CA2749204023 | POMC | c.-16_-15insTCGA (n.-16_-15insTCGA) | |
2 | g.25164788A>G | CA2699005089 | POMC | c.-16T>C (n.-16T>C) | dbSNP |
2 | g.25164789G>T | CA2658160678 | POMC | c.-17C>A (n.-17C>A) | gnomAD v4 |
2 | g.25164789_25164790insAAGTAGTAGGT | CA2749204024 | POMC | c.-18_-17insACCTACTACTT (n.-18_-17insACCTACTACTT) | |
2 | g.25164790G>C | CA1555436 | POMC | c.-18C>G (n.-18C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25164790G= | CA1239231938 | POMC | c.-18C= (n.-18C=) | |
2 | g.25164793C>T | CA2658160682 | POMC | c.-20-1G>A (n.-20-1G>A) c.-21G>A (n.-21G>A) | gnomAD v4 |
2 | g.25164795_25164796insTCTCGGGAGGCTGCTCTCTGAGGGCGGGGACGCTCGGCGGCCTCTCTCGGTCG | CA1555437 | POMC | c.-20-3_-20-2insGACCGAGAGAGGCCGCCGAGCGTCCCCGCCCTCAGAGAGCAGCCTCCCGAGAC (n.-20-3_-20-2insGACCGAGAGAGGCCGCCGAGCGTCCCCGCCCTCAGAGAGCAGCCTCCCGAGAC) c.-23_-22insGACCGAGAGAGGCCGCCGAGCGTCCCCGCCCTCAGAGAGCAGCCTCCCGAGAC (n.-23_-22insGACCGAGAGAGGCCGCCGAGCGTCCCCGCCCTCAGAGAGCAGCCTCCCGAGAC) | ExAC gnomAD v2 |
2 | g.25164795_25164796insTCTCGGGAGGCTGCTCTCTGAGGGCGGGGACGCTCGGCGGCCT | CA2658160683 | POMC | c.-20-4_-20-3insAGGCCGCCGAGCGTCCCCGCCCTCAGAGAGCAGCCTCCCGAGA (n.-20-4_-20-3insAGGCCGCCGAGCGTCCCCGCCCTCAGAGAGCAGCCTCCCGAGA) c.-24_-23insAGGCCGCCGAGCGTCCCCGCCCTCAGAGAGCAGCCTCCCGAGA (n.-24_-23insAGGCCGCCGAGCGTCCCCGCCCTCAGAGAGCAGCCTCCCGAGA) | gnomAD v4 |
2 | g.25164796C>A | CA2699005090 | POMC | c.-20-4G>T (n.-20-4G>T) c.-24G>T (n.-24G>T) | dbSNP |
2 | g.25164797A= | CA1239231943 | POMC | c.-20-5T= (n.-20-5T=) c.-25T= (n.-25T=) | |
2 | g.25164797A>G | CA1555438 | POMC | c.-20-5T>C (n.-20-5T>C) c.-25T>C (n.-25T>C) | dbSNP ExAC |
2 | g.25164800A= | CA1239231946 | POMC | c.-20-8T= (n.-20-8T=) c.-28T= (n.-28T=) | |
2 | g.25164800A>G | CA531359247 | POMC | c.-20-8T>C (n.-20-8T>C) c.-28T>C (n.-28T>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.25164801G>A | CA2658160685 | POMC | c.-20-9C>T (n.-20-9C>T) c.-29C>T (n.-29C>T) | gnomAD v4 |
2 | g.25164801G>C | CA2594344430 | POMC | c.-20-9C>G (n.-20-9C>G) c.-29C>G (n.-29C>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.25164802C>A | CA1555439 | POMC | c.-20-10G>T (n.-20-10G>T) c.-30G>T (n.-30G>T) | dbSNP ExAC gnomAD v4 |
2 | g.25164802C= | CA1239231949 | POMC | c.-20-10G= (n.-20-10G=) c.-30G= (n.-30G=) | |
2 | g.25164802C>G | CA531359249 | POMC | c.-20-10G>C (n.-20-10G>C) c.-30G>C (n.-30G>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.25164809G>A | CA2658160688 | POMC | c.-20-17C>T (n.-20-17C>T) c.-37C>T (n.-37C>T) | gnomAD v4 |
2 | g.25164810A= | CA1239231954 | POMC | c.-20-18T= (n.-20-18T=) c.-38T= (n.-38T=) | |
2 | g.25164810A>G | CA1555440 | POMC | c.-20-18T>C (n.-20-18T>C) c.-38T>C (n.-38T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25164810A>T | CA2576693540 | POMC | c.-20-18T>A (n.-20-18T>A) c.-38T>A (n.-38T>A) |