Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
2 | g.25164813G>A | CA2576693541 | POMC | c.-20-21C>T (n.-20-21C>T) c.-41C>T (n.-41C>T) | |
2 | g.25164813G= | CA1239231956 | POMC | c.-20-21C= (n.-20-21C=) c.-41C= (n.-41C=) | |
2 | g.25164813G>T | CA1239231958 | POMC | c.-20-21C>A (n.-20-21C>A) c.-41C>A (n.-41C>A) | dbSNP gnomAD v4 |
2 | g.25164814G>A | CA1555441 | POMC | c.-20-22C>T (n.-20-22C>T) c.-42C>T (n.-42C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25164814G= | CA1239231965 | POMC | c.-20-22C= (n.-20-22C=) c.-42C= (n.-42C=) | |
2 | g.25164814G>T | CA1555442 | POMC | c.-20-22C>A (n.-20-22C>A) c.-42C>A (n.-42C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25164815T>C | CA43686659 | POMC | c.-20-23A>G (n.-20-23A>G) c.-43A>G (n.-43A>G) | dbSNP gnomAD v4 |
2 | g.25164815T= | CA1239231968 | POMC | c.-20-23A= (n.-20-23A=) c.-43A= (n.-43A=) | |
2 | g.25164816_25164819delinsGGGA | CA1239231969 | POMC | c.-20-27_-20-24delinsTCCC (n.-20-27_-20-24delinsTCCC) c.-47_-44delinsTCCC (n.-47_-44delinsTCCC) | |
2 | g.25164817G>A | CA531359255 | POMC | c.-20-25C>T (n.-20-25C>T) c.-45C>T (n.-45C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25164817G= | CA1239231973 | POMC | c.-20-25C= (n.-20-25C=) c.-45C= (n.-45C=) | |
2 | g.25164817_25164819del | CA767151359 | POMC | c.-20-27_-20-25del (n.-20-27_-20-25del) c.-47_-45del (n.-47_-45del) | dbSNP gnomAD v4 |
2 | g.25164818G>A | CA1028506713 | POMC | c.-20-26C>T (n.-20-26C>T) c.-46C>T (n.-46C>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.25164818G= | CA1239231975 | POMC | c.-20-26C= (n.-20-26C=) c.-46C= (n.-46C=) | |
2 | g.25164818G>T | CA2658160693 | POMC | c.-20-26C>A (n.-20-26C>A) c.-46C>A (n.-46C>A) | gnomAD v4 |
2 | g.25164820C= | CA1239231980 | POMC | c.-20-28G= (n.-20-28G=) c.-48G= (n.-48G=) | |
2 | g.25164820C>G | CA2658160695 | POMC | c.-20-28G>C (n.-20-28G>C) c.-48G>C (n.-48G>C) | gnomAD v4 |
2 | g.25164820C>T | CA531359256 | POMC | c.-20-28G>A (n.-20-28G>A) c.-48G>A (n.-48G>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.25164821C>A | CA767151361 | POMC | c.-20-29G>T (n.-20-29G>T) c.-49G>T (n.-49G>T) | dbSNP gnomAD v4 |
2 | g.25164821C= | CA1239231983 | POMC | c.-20-29G= (n.-20-29G=) c.-49G= (n.-49G=) | |
2 | g.25164821C>G | CA1239231984 | POMC | c.-20-29G>C (n.-20-29G>C) c.-49G>C (n.-49G>C) | dbSNP |
2 | g.25164822C>A | CA2658160699 | POMC | c.-20-30G>T (n.-20-30G>T) c.-50G>T (n.-50G>T) | gnomAD v4 |