Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.57764523A>C | CA385504027 | CYP27B1 | c.1072T>G (p.Tyr358Asp) c.1049T>G (p.Val350Gly) c.991T>G (p.Tyr331Asp) c.286T>G (p.Tyr96Asp) n.1130T>G | |
12 | g.57764523A>G | CA385504028 | CYP27B1 | c.1072T>C (p.Tyr358His) c.1049T>C (p.Val350Ala) c.991T>C (p.Tyr331His) c.286T>C (p.Tyr96His) n.1130T>C | gnomAD v4 |
12 | g.57764523A>T | CA385504029 | CYP27B1 | c.1072T>A (p.Tyr358Asn) c.1049T>A (p.Val350Glu) c.991T>A (p.Tyr331Asn) c.286T>A (p.Tyr96Asn) n.1130T>A | |
12 | g.57764524C>A | CA480401850 | CYP27B1 | c.1071G>T (p.Leu357=) c.1048G>T (p.Val350Leu) c.990G>T (p.Leu330=) c.285G>T (p.Leu95=) n.1129G>T | |
12 | g.57764524C= | CA2038987654 | CYP27B1 | c.1071G= (p.Leu357=) c.1048G= (p.Val350=) c.990G= (p.Leu330=) c.285G= (p.Leu95=) n.1129G= | |
12 | g.57764524C>G | CA6658248 | CYP27B1 | c.1071G>C (p.Leu357=) c.1048G>C (p.Val350Leu) c.990G>C (p.Leu330=) c.285G>C (p.Leu95=) n.1129G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.57764524C>T | CA6658247 | CYP27B1 | c.1071G>A (p.Leu357=) c.1048G>A (p.Val350Ile) c.990G>A (p.Leu330=) c.285G>A (p.Leu95=) n.1129G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.57764525A>C | CA385504031 | CYP27B1 | c.1070T>G (p.Leu357Arg) c.1047T>G (p.Ser349=) c.989T>G (p.Leu330Arg) c.284T>G (p.Leu95Arg) n.1128T>G | |
12 | g.57764525A>G | CA385504034 | CYP27B1 | c.1070T>C (p.Leu357Pro) c.1047T>C (p.Ser349=) c.989T>C (p.Leu330Pro) c.284T>C (p.Leu95Pro) n.1128T>C | |
12 | g.57764525A>T | CA385504032 | CYP27B1 | c.1070T>A (p.Leu357Gln) c.1047T>A (p.Ser349=) c.989T>A (p.Leu330Gln) c.284T>A (p.Leu95Gln) n.1128T>A | |
12 | g.57764526G>A | CA480401851 | CYP27B1 | c.1069C>T (p.Leu357=) c.1046C>T (p.Ser349Phe) c.988C>T (p.Leu330=) c.283C>T (p.Leu95=) n.1127C>T | |
12 | g.57764526G>C | CA385504036 | CYP27B1 | c.1069C>G (p.Leu357Val) c.1046C>G (p.Ser349Cys) c.988C>G (p.Leu330Val) c.283C>G (p.Leu95Val) n.1127C>G | dbSNP gnomAD v4 |
12 | g.57764526G= | CA2038987661 | CYP27B1 | c.1069C= (p.Leu357=) c.1046C= (p.Ser349=) c.988C= (p.Leu330=) c.283C= (p.Leu95=) n.1127C= | |
12 | g.57764526G>T | CA385504037 | CYP27B1 | c.1069C>A (p.Leu357Met) c.1046C>A (p.Ser349Tyr) c.988C>A (p.Leu330Met) c.283C>A (p.Leu95Met) n.1127C>A | dbSNP gnomAD v2 gnomAD v4 |
12 | g.57764527A= | CA2038987670 | CYP27B1 | c.1068T= (p.Ala356=) c.1045T= (p.Ser349=) c.987T= (p.Ala329=) c.282T= (p.Ala94=) n.1126T= | |
12 | g.57764527A>C | CA480401852 | CYP27B1 | c.1068T>G (p.Ala356=) c.1045T>G (p.Ser349Ala) c.987T>G (p.Ala329=) c.282T>G (p.Ala94=) n.1126T>G | gnomAD v4 |
12 | g.57764527A>G | CA6658249 | CYP27B1 | c.1068T>C (p.Ala356=) c.1045T>C (p.Ser349Pro) c.987T>C (p.Ala329=) c.282T>C (p.Ala94=) n.1126T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.57764527A>T | CA480401853 | CYP27B1 | c.1068T>A (p.Ala356=) c.1045T>A (p.Ser349Thr) c.987T>A (p.Ala329=) c.282T>A (p.Ala94=) n.1126T>A | |
12 | g.57764528G>A | CA385504041 | CYP27B1 | c.1067C>T (p.Ala356Val) c.1044C>T (p.Gly348=) c.986C>T (p.Ala329Val) c.281C>T (p.Ala94Val) n.1125C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.57764528G>C | CA385504044 | CYP27B1 | c.1067C>G (p.Ala356Gly) c.1044C>G (p.Gly348=) c.986C>G (p.Ala329Gly) c.281C>G (p.Ala94Gly) n.1125C>G | |
12 | g.57764528G= | CA2038987680 | CYP27B1 | c.1067C= (p.Ala356=) c.1044C= (p.Gly348=) c.986C= (p.Ala329=) c.281C= (p.Ala94=) n.1125C= | |
12 | g.57764528G>T | CA385504046 | CYP27B1 | c.1067C>A (p.Ala356Asp) c.1044C>A (p.Gly348=) c.986C>A (p.Ala329Asp) c.281C>A (p.Ala94Asp) n.1125C>A | |
12 | g.57764529C>A | CA6658250 | CYP27B1 | c.1066G>T (p.Ala356Ser) c.1043G>T (p.Gly348Val) c.985G>T (p.Ala329Ser) c.280G>T (p.Ala94Ser) n.1124G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.57764529C= | CA2038987688 | CYP27B1 | c.1066G= (p.Ala356=) c.1043G= (p.Gly348=) c.985G= (p.Ala329=) c.280G= (p.Ala94=) n.1124G= | |
12 | g.57764529C>G | CA385504049 | CYP27B1 | c.1066G>C (p.Ala356Pro) c.1043G>C (p.Gly348Ala) c.985G>C (p.Ala329Pro) c.280G>C (p.Ala94Pro) n.1124G>C | |
12 | g.57764529C>T | CA385504051 | CYP27B1 | c.1066G>A (p.Ala356Thr) c.1043G>A (p.Gly348Asp) c.985G>A (p.Ala329Thr) c.280G>A (p.Ala94Thr) n.1124G>A | gnomAD v4 |
12 | g.57764530C>A | CA385504052 | CYP27B1 | c.1065G>T (p.Trp355Cys) c.1042G>T (p.Gly348Cys) c.984G>T (p.Trp328Cys) c.279G>T (p.Trp93Cys) n.1123G>T | gnomAD v4 |
12 | g.57764530C>G | CA385504054 | CYP27B1 | c.1065G>C (p.Trp355Cys) c.1042G>C (p.Gly348Arg) c.984G>C (p.Trp328Cys) c.279G>C (p.Trp93Cys) n.1123G>C | |
12 | g.57764530C>T | CA385504056 | CYP27B1 | c.1065G>A (p.Trp355Ter) c.1042G>A (p.Gly348Ser) c.984G>A (p.Trp328Ter) c.279G>A (p.Trp93Ter) n.1123G>A | ClinVar |
12 | g.57764531C>A | CA385504061 | CYP27B1 | c.1064G>T (p.Trp355Leu) c.1041G>T (p.Leu347Phe) c.983G>T (p.Trp328Leu) c.278G>T (p.Trp93Leu) n.1122G>T | |
12 | g.57764531C>G | CA385504059 | CYP27B1 | c.1064G>C (p.Trp355Ser) c.1041G>C (p.Leu347Phe) c.983G>C (p.Trp328Ser) c.278G>C (p.Trp93Ser) n.1122G>C | |
12 | g.57764531C>T | CA385504058 | CYP27B1 | c.1064G>A (p.Trp355Ter) c.1041G>A (p.Leu347=) c.983G>A (p.Trp328Ter) c.278G>A (p.Trp93Ter) n.1122G>A | |
12 | g.57764532A>C | CA385504062 | CYP27B1 | c.1063T>G (p.Trp355Gly) c.1040T>G (p.Leu347Trp) c.982T>G (p.Trp328Gly) c.277T>G (p.Trp93Gly) n.1121T>G | |
12 | g.57764532A>G | CA385504065 | CYP27B1 | c.1063T>C (p.Trp355Arg) c.1040T>C (p.Leu347Ser) c.982T>C (p.Trp328Arg) c.277T>C (p.Trp93Arg) n.1121T>C | |
12 | g.57764532A>T | CA385504066 | CYP27B1 | c.1063T>A (p.Trp355Arg) c.1040T>A (p.Leu347Ter) c.982T>A (p.Trp328Arg) c.277T>A (p.Trp93Arg) n.1121T>A | |
12 | g.57764533A= | CA2038987693 | CYP27B1 | c.1062T= (p.Ser354=) c.1039T= (p.Leu347=) c.981T= (p.Ser327=) c.276T= (p.Ser92=) n.1120T= | |
12 | g.57764533A>C | CA480401854 | CYP27B1 | c.1062T>G (p.Ser354=) c.1039T>G (p.Leu347Val) c.981T>G (p.Ser327=) c.276T>G (p.Ser92=) n.1120T>G | |
12 | g.57764533A>G | CA480401855 | CYP27B1 | c.1062T>C (p.Ser354=) c.1039T>C (p.Leu347=) c.981T>C (p.Ser327=) c.276T>C (p.Ser92=) n.1120T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.57764533A>T | CA480401856 | CYP27B1 | c.1062T>A (p.Ser354=) c.1039T>A (p.Leu347Met) c.981T>A (p.Ser327=) c.276T>A (p.Ser92=) n.1120T>A | |
12 | g.57764534G>A | CA385504069 | CYP27B1 | c.1061C>T (p.Ser354Phe) c.1038C>T (p.Leu346=) c.980C>T (p.Ser327Phe) c.275C>T (p.Ser92Phe) n.1119C>T | dbSNP |
12 | g.57764534G>C | CA385504071 | CYP27B1 | c.1061C>G (p.Ser354Cys) c.1038C>G (p.Leu346=) c.980C>G (p.Ser327Cys) c.275C>G (p.Ser92Cys) n.1119C>G | gnomAD v4 |
12 | g.57764534G= | CA2038987698 | CYP27B1 | c.1061C= (p.Ser354=) c.1038C= (p.Leu346=) c.980C= (p.Ser327=) c.275C= (p.Ser92=) n.1119C= | |
12 | g.57764534G>T | CA385504072 | CYP27B1 | c.1061C>A (p.Ser354Tyr) c.1038C>A (p.Leu346=) c.980C>A (p.Ser327Tyr) c.275C>A (p.Ser92Tyr) n.1119C>A | |
12 | g.57764535A>C | CA385504073 | CYP27B1 | c.1060T>G (p.Ser354Ala) c.1037T>G (p.Leu346Arg) c.979T>G (p.Ser327Ala) c.274T>G (p.Ser92Ala) n.1118T>G | |
12 | g.57764535A>G | CA385504074 | CYP27B1 | c.1060T>C (p.Ser354Pro) c.1037T>C (p.Leu346Pro) c.979T>C (p.Ser327Pro) c.274T>C (p.Ser92Pro) n.1118T>C | |
12 | g.57764535A>T | CA385504076 | CYP27B1 | c.1060T>A (p.Ser354Thr) c.1037T>A (p.Leu346His) c.979T>A (p.Ser327Thr) c.274T>A (p.Ser92Thr) n.1118T>A | |
12 | g.57764536G>A | CA480401857 | CYP27B1 | c.1059C>T (p.Leu353=) c.1036C>T (p.Leu346Phe) c.978C>T (p.Leu326=) c.273C>T (p.Leu91=) n.1117C>T | dbSNP gnomAD v3 gnomAD v4 |
12 | g.57764536G>C | CA480401858 | CYP27B1 | c.1059C>G (p.Leu353=) c.1036C>G (p.Leu346Val) c.978C>G (p.Leu326=) c.273C>G (p.Leu91=) n.1117C>G | |
12 | g.57764536G= | CA2038987701 | CYP27B1 | c.1059C= (p.Leu353=) c.1036C= (p.Leu346=) c.978C= (p.Leu326=) c.273C= (p.Leu91=) n.1117C= | |
12 | g.57764536G>T | CA480401859 | CYP27B1 | c.1059C>A (p.Leu353=) c.1036C>A (p.Leu346Ile) c.978C>A (p.Leu326=) c.273C>A (p.Leu91=) n.1117C>A |