Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.49016016dup | CA2340186947 | LHB | c.*55dup (n.*55dup) c.481dup (n.481dup) | dbSNP |
19 | g.49016016del | CA9564241 | LHB | c.*55del (n.*55del) c.481del (n.481del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49016015G>A | CA2586297829 | LHB | c.*53C>T (n.*53C>T) c.479C>T (n.479C>T) | gnomAD v4 |
19 | g.49016015G= | CA2340186951 | LHB | c.*53C= (n.*53C=) c.479C= (n.479C=) | |
19 | g.49016015G>T | CA996652588 | LHB | c.*53C>A (n.*53C>A) c.479C>A (n.479C>A) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.49016016G>A | CA633889701 | LHB | c.*52C>T (n.*52C>T) c.478C>T (n.478C>T) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.49016016G>C | CA2739624282 | LHB | c.*52C>G (n.*52C>G) c.478C>G (n.478C>G) | |
19 | g.49016016G= | CA2340186953 | LHB | c.*52C= (n.*52C=) c.478C= (n.478C=) | |
19 | g.49016016G>T | CA2739624283 | LHB | c.*52C>A (n.*52C>A) c.478C>A (n.478C>A) | |
19 | g.49016017T>A | CA2739624285 | LHB | c.*51A>T (n.*51A>T) c.477A>T (n.477A>T) | |
19 | g.49016017T>C | CA2739624284 | LHB | c.*51A>G (n.*51A>G) c.477A>G (n.477A>G) | |
19 | g.49016017T>G | CA2340186955 | LHB | c.*51A>C (n.*51A>C) c.477A>C (n.477A>C) | dbSNP |
19 | g.49016017T= | CA2340186954 | LHB | c.*51A= (n.*51A=) c.477A= (n.477A=) | |
19 | g.49016018G>A | CA9564246 | LHB | c.*50C>T (n.*50C>T) c.476C>T (n.476C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49016018G>C | CA2586297830 | LHB | c.*50C>G (n.*50C>G) c.476C>G (n.476C>G) | gnomAD v4 |
19 | g.49016018G= | CA2340186957 | LHB | c.*50C= (n.*50C=) c.476C= (n.476C=) | |
19 | g.49016018G>T | CA2739624286 | LHB | c.*50C>A (n.*50C>A) c.476C>A (n.476C>A) | |
19 | g.49016019T>A | CA406776006 | LHB | c.*49A>T (n.*49A>T) c.475A>T (n.475A>T) c.465A>T (p.Ter155Cys) | |
19 | g.49016019T>C | CA406776007 | LHB | c.*49A>G (n.*49A>G) c.475A>G (n.475A>G) c.465A>G (p.Ter155Trp) | |
19 | g.49016019T>G | CA406776009 | LHB | c.*49A>C (n.*49A>C) c.475A>C (n.475A>C) c.465A>C (p.Ter155Cys) | |
19 | g.49016020C>A | CA406776011 | LHB | c.*48G>T (n.*48G>T) c.474G>T (n.474G>T) c.464G>T (p.Ter155Leu) | |
19 | g.49016020C= | CA2340186958 | LHB | c.*48G= (n.*48G=) c.474G= (n.474G=) c.464G= (p.Ter155=) | |
19 | g.49016020C>G | CA406776013 | LHB | c.*48G>C (n.*48G>C) c.474G>C (n.474G>C) c.464G>C (p.Ter155Ser) | |
19 | g.49016020C>T | CA2340186959 | LHB | c.*48G>A (n.*48G>A) c.474G>A (n.474G>A) c.464G>A (p.Ter155=) | dbSNP gnomAD v4 |
19 | g.49016020_49016021insCG | CA2586297834 | LHB | c.*47_*48insCG (n.*47_*48insCG) c.473_474insCG (n.473_474insCG) c.463_464insCG (p.Ter155SerextTer?) | gnomAD v4 |
19 | g.49016020_49016021insTG | CA2586297832 | LHB | c.*47_*48insCA (n.*47_*48insCA) c.473_474insCA (n.473_474insCA) c.463_464insCA (p.Ter155SerextTer?) | gnomAD v4 |
19 | g.49016021A>C | CA406776015 | LHB | c.*47T>G (n.*47T>G) c.473T>G (n.473T>G) c.463T>G (p.Ter155Gly) | gnomAD v4 |
19 | g.49016021A>G | CA406776017 | LHB | c.*47T>C (n.*47T>C) c.473T>C (n.473T>C) c.463T>C (p.Ter155Arg) | gnomAD v4 |
19 | g.49016021A>T | CA406776014 | LHB | c.*47T>A (n.*47T>A) c.473T>A (n.473T>A) c.463T>A (p.Ter155Arg) | |
19 | g.49016022G>A | CA2741636887 | LHB | c.*46C>T (n.*46C>T) c.472C>T (n.472C>T) c.462C>T (p.Pro154=) | |
19 | g.49016023G>A | CA406776023 | LHB | c.*45C>T (n.*45C>T) c.471C>T (n.471C>T) c.461C>T (p.Pro154Leu) | gnomAD v4 |
19 | g.49016023G>C | CA406776019 | LHB | c.*45C>G (n.*45C>G) c.471C>G (n.471C>G) c.461C>G (p.Pro154Arg) | |
19 | g.49016023G>T | CA406776021 | LHB | c.*45C>A (n.*45C>A) c.471C>A (n.471C>A) c.461C>A (p.Pro154His) | |
19 | g.49016024G>A | CA9564247 | LHB | c.*44C>T (n.*44C>T) c.470C>T (n.470C>T) c.460C>T (p.Pro154Ser) | dbSNP ExAC gnomAD v2 |
19 | g.49016024G>C | CA406776026 | LHB | c.*44C>G (n.*44C>G) c.470C>G (n.470C>G) c.460C>G (p.Pro154Ala) | |
19 | g.49016024G= | CA2340186962 | LHB | c.*44C= (n.*44C=) c.470C= (n.470C=) c.460C= (p.Pro154=) | |
19 | g.49016024G>T | CA406776028 | LHB | c.*44C>A (n.*44C>A) c.470C>A (n.470C>A) c.460C>A (p.Pro154Thr) | |
19 | g.49016025C>A | CA406776030 | LHB | c.*43G>T (n.*43G>T) c.469G>T (n.469G>T) c.459G>T (p.Glu153Asp) | |
19 | g.49016025C= | CA2340186972 | LHB | c.*43G= (n.*43G=) c.469G= (n.469G=) c.459G= (p.Glu153=) | |
19 | g.49016025C>G | CA406776032 | LHB | c.*43G>C (n.*43G>C) c.469G>C (n.469G>C) c.459G>C (p.Glu153Asp) | dbSNP |
19 | g.49016026T>A | CA406776034 | LHB | c.*42A>T (n.*42A>T) c.468A>T (n.468A>T) c.458A>T (p.Glu153Val) | |
19 | g.49016026T>C | CA406776036 | LHB | c.*42A>G (n.*42A>G) c.468A>G (n.468A>G) c.458A>G (p.Glu153Gly) | gnomAD v4 |
19 | g.49016026T>G | CA406776038 | LHB | c.*42A>C (n.*42A>C) c.468A>C (n.468A>C) c.458A>C (p.Glu153Ala) | |
19 | g.49016027C>A | CA406776040 | LHB | c.*41G>T (n.*41G>T) c.467G>T (n.467G>T) c.457G>T (p.Glu153Ter) | |
19 | g.49016027C= | CA2340186973 | LHB | c.*41G= (n.*41G=) c.467G= (n.467G=) c.457G= (p.Glu153=) | |
19 | g.49016027C>G | CA406776042 | LHB | c.*41G>C (n.*41G>C) c.467G>C (n.467G>C) c.457G>C (p.Glu153Gln) | |
19 | g.49016027C>T | CA406776044 | LHB | c.*41G>A (n.*41G>A) c.467G>A (n.467G>A) c.457G>A (p.Glu153Lys) | dbSNP gnomAD v4 |
19 | g.49016029A>C | CA406776050 | LHB | c.*39T>G (n.*39T>G) c.465T>G (n.465T>G) c.455T>G (p.Leu152Arg) | |
19 | g.49016029A>G | CA406776048 | LHB | c.*39T>C (n.*39T>C) c.465T>C (n.465T>C) c.455T>C (p.Leu152Pro) | gnomAD v4 |
19 | g.49016029A>T | CA406776046 | LHB | c.*39T>A (n.*39T>A) c.465T>A (n.465T>A) c.455T>A (p.Leu152Gln) | |
19 | g.49016030G>C | CA406776052 | LHB | c.*38C>G (n.*38C>G) c.464C>G (n.464C>G) c.454C>G (p.Leu152Val) | |
19 | g.49016030G>T | CA406776054 | LHB | c.*38C>A (n.*38C>A) c.464C>A (n.464C>A) c.454C>A (p.Leu152Met) | |
19 | g.49016031G>A | CA2586297838 | LHB | c.*37C>T (n.*37C>T) c.463C>T (n.463C>T) c.453C>T (p.Leu151=) | gnomAD v4 |
19 | g.49016031G= | CA2340186975 | LHB | c.*37C= (n.*37C=) c.463C= (n.463C=) c.453C= (p.Leu151=) | |
19 | g.49016031G>T | CA9564248 | LHB | c.*37C>A (n.*37C>A) c.463C>A (n.463C>A) c.453C>A (p.Leu151=) | dbSNP ExAC gnomAD v2 |
19 | g.49016032A>C | CA406776058 | LHB | c.*36T>G (n.*36T>G) c.462T>G (n.462T>G) c.452T>G (p.Leu151Arg) | |
19 | g.49016032A>G | CA406776061 | LHB | c.*36T>C (n.*36T>C) c.462T>C (n.462T>C) c.452T>C (p.Leu151Pro) | |
19 | g.49016032A>T | CA406776062 | LHB | c.*36T>A (n.*36T>A) c.462T>A (n.462T>A) c.452T>A (p.Leu151His) | |
19 | g.49016033G>A | CA406776065 | LHB | c.*35C>T (n.*35C>T) c.461C>T (n.461C>T) c.451C>T (p.Leu151Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49016033G>C | CA9564249 | LHB | c.*35C>G (n.*35C>G) c.461C>G (n.461C>G) c.451C>G (p.Leu151Val) | dbSNP ExAC gnomAD v2 |
19 | g.49016033G= | CA2340186978 | LHB | c.*35C= (n.*35C=) c.461C= (n.461C=) c.451C= (p.Leu151=) | |
19 | g.49016033G>T | CA406776067 | LHB | c.*35C>A (n.*35C>A) c.461C>A (n.461C>A) c.451C>A (p.Leu151Ile) | gnomAD v4 |
19 | g.49016034T>A | CA996652604 | LHB | c.*34A>T (n.*34A>T) c.460A>T (n.460A>T) c.450A>T (p.Arg150=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.49016034T= | CA2340186979 | LHB | c.*34A= (n.*34A=) c.460A= (n.460A=) c.450A= (p.Arg150=) | |
19 | g.49016035C>A | CA406776070 | LHB | c.*33G>T (n.*33G>T) c.459G>T (n.459G>T) c.449G>T (p.Arg150Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49016035C= | CA2340186981 | LHB | c.*33G= (n.*33G=) c.459G= (n.459G=) c.449G= (p.Arg150=) | |
19 | g.49016035C>G | CA406776072 | LHB | c.*33G>C (n.*33G>C) c.459G>C (n.459G>C) c.449G>C (p.Arg150Pro) | |
19 | g.49016035C>T | CA9564250 | LHB | c.*33G>A (n.*33G>A) c.459G>A (n.459G>A) c.449G>A (p.Arg150Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.49016036G>A | CA9564251 | LHB | c.*32C>T (n.*32C>T) c.458C>T (n.458C>T) c.448C>T (p.Arg150Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49016036G>C | CA406776076 | LHB | c.*32C>G (n.*32C>G) c.458C>G (n.458C>G) c.448C>G (p.Arg150Gly) | dbSNP gnomAD v4 |
19 | g.49016036G= | CA2340186983 | LHB | c.*32C= (n.*32C=) c.458C= (n.458C=) c.448C= (p.Arg150=) | |
19 | g.49016036G>T | CA2576875945 | LHB | c.*32C>A (n.*32C>A) c.458C>A (n.458C>A) c.448C>A (p.Arg150=) | |
19 | g.49016037G>C | CA2586297843 | LHB | c.*31C>G (n.*31C>G) c.457C>G (n.457C>G) c.447C>G (p.Ser149=) | gnomAD v4 |
19 | g.49016038G>A | CA406776079 | LHB | c.*30C>T (n.*30C>T) c.456C>T (n.456C>T) c.446C>T (p.Ser149Phe) | dbSNP |
19 | g.49016038G>C | CA406776080 | LHB | c.*30C>G (n.*30C>G) c.456C>G (n.456C>G) c.446C>G (p.Ser149Cys) | |
19 | g.49016038G= | CA2340186986 | LHB | c.*30C= (n.*30C=) c.456C= (n.456C=) c.446C= (p.Ser149=) | |
19 | g.49016038G>T | CA406776077 | LHB | c.*30C>A (n.*30C>A) c.456C>A (n.456C>A) c.446C>A (p.Ser149Tyr) | |
19 | g.49016039A>C | CA406776082 | LHB | c.*29T>G (n.*29T>G) c.455T>G (n.455T>G) c.445T>G (p.Ser149Ala) | |
19 | g.49016039A>G | CA406776083 | LHB | c.*29T>C (n.*29T>C) c.455T>C (n.455T>C) c.445T>C (p.Ser149Pro) | |
19 | g.49016039A>T | CA406776084 | LHB | c.*29T>A (n.*29T>A) c.455T>A (n.455T>A) c.445T>A (p.Ser149Thr) | |
19 | g.49016040T>C | CA2586297844 | LHB | c.*28A>G (n.*28A>G) c.454A>G (n.454A>G) c.444A>G (p.Pro148=) | gnomAD v4 |
19 | g.49016041G>A | CA406776086 | LHB | c.*27C>T (n.*27C>T) c.453C>T (n.453C>T) c.443C>T (p.Pro148Leu) | |
19 | g.49016041G>C | CA406776088 | LHB | c.*27C>G (n.*27C>G) c.453C>G (n.453C>G) c.443C>G (p.Pro148Arg) | |
19 | g.49016041G>T | CA406776089 | LHB | c.*27C>A (n.*27C>A) c.453C>A (n.453C>A) c.443C>A (p.Pro148Gln) | |
19 | g.49016042G>A | CA406776092 | LHB | c.*26C>T (n.*26C>T) c.452C>T (n.452C>T) c.442C>T (p.Pro148Ser) | |
19 | g.49016042G>C | CA406776093 | LHB | c.*26C>G (n.*26C>G) c.452C>G (n.452C>G) c.442C>G (p.Pro148Ala) | gnomAD v4 |
19 | g.49016042G>T | CA406776095 | LHB | c.*26C>A (n.*26C>A) c.452C>A (n.452C>A) c.442C>A (p.Pro148Thr) | |
19 | g.49016043A>C | CA406776096 | LHB | c.*25T>G (n.*25T>G) c.451T>G (n.451T>G) c.441T>G (p.Ser147Arg) | |
19 | g.49016043A>T | CA406776098 | LHB | c.*25T>A (n.*25T>A) c.451T>A (n.451T>A) c.441T>A (p.Ser147Arg) | |
19 | g.49016044C>A | CA406776105 | LHB | c.*24G>T (n.*24G>T) c.450G>T (n.450G>T) c.440G>T (p.Ser147Ile) | |
19 | g.49016044C>G | CA406776103 | LHB | c.*24G>C (n.*24G>C) c.450G>C (n.450G>C) c.440G>C (p.Ser147Thr) | |
19 | g.49016044C>T | CA406776101 | LHB | c.*24G>A (n.*24G>A) c.450G>A (n.450G>A) c.440G>A (p.Ser147Asn) | |
19 | g.49016045T>A | CA406776107 | LHB | c.*23A>T (n.*23A>T) c.449A>T (n.449A>T) c.439A>T (p.Ser147Cys) | |
19 | g.49016045T>C | CA406776109 | LHB | c.*23A>G (n.*23A>G) c.449A>G (n.449A>G) c.439A>G (p.Ser147Gly) | |
19 | g.49016045T>G | CA406776110 | LHB | c.*23A>C (n.*23A>C) c.449A>C (n.449A>C) c.439A>C (p.Ser147Arg) | |
19 | g.49016046T>C | CA2586297845 | LHB | c.*22A>G (n.*22A>G) c.448A>G (n.448A>G) c.438A>G (p.Pro146=) | gnomAD v4 |
19 | g.49016047G>A | CA406776111 | LHB | c.*21C>T (n.*21C>T) c.447C>T (n.447C>T) c.437C>T (p.Pro146Leu) | |
19 | g.49016047G>C | CA406776113 | LHB | c.*21C>G (n.*21C>G) c.447C>G (n.447C>G) c.437C>G (p.Pro146Arg) | |
19 | g.49016047G>T | CA406776114 | LHB | c.*21C>A (n.*21C>A) c.447C>A (n.447C>A) c.437C>A (p.Pro146Gln) | |
19 | g.49016048G>A | CA406776117 | LHB | c.*20C>T (n.*20C>T) c.446C>T (n.446C>T) c.436C>T (p.Pro146Ser) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.49016048G>C | CA406776118 | LHB | c.*20C>G (n.*20C>G) c.446C>G (n.446C>G) c.436C>G (p.Pro146Ala) | |
19 | g.49016048G= | CA2340186987 | LHB | c.*20C= (n.*20C=) c.446C= (n.446C=) c.436C= (p.Pro146=) | |
19 | g.49016048G>T | CA406776120 | LHB | c.*20C>A (n.*20C>A) c.446C>A (n.446C>A) c.436C>A (p.Pro146Thr) | |
19 | g.49016050A= | CA2340186989 | LHB | c.*18T= (n.*18T=) c.444T= (n.444T=) c.434T= (p.Leu145=) | |
19 | g.49016050A>C | CA406776122 | LHB | c.*18T>G (n.*18T>G) c.444T>G (n.444T>G) c.434T>G (p.Leu145Arg) | |
19 | g.49016050A>G | CA406776125 | LHB | c.*18T>C (n.*18T>C) c.444T>C (n.444T>C) c.434T>C (p.Leu145Pro) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.49016050A>T | CA406776129 | LHB | c.*18T>A (n.*18T>A) c.444T>A (n.444T>A) c.434T>A (p.Leu145His) | |
19 | g.49016051G>A | CA406776135 | LHB | c.*17C>T (n.*17C>T) c.443C>T (n.443C>T) c.433C>T (p.Leu145Phe) | dbSNP gnomAD v4 |
19 | g.49016051G>C | CA406776133 | LHB | c.*17C>G (n.*17C>G) c.443C>G (n.443C>G) c.433C>G (p.Leu145Val) | gnomAD v4 |
19 | g.49016051G= | CA2340186990 | LHB | c.*17C= (n.*17C=) c.443C= (n.443C=) c.433C= (p.Leu145=) | |
19 | g.49016051G>T | CA406776131 | LHB | c.*17C>A (n.*17C>A) c.443C>A (n.443C>A) c.433C>A (p.Leu145Ile) | gnomAD v4 |
19 | g.49016052G>A | CA883071540 | LHB | c.*16C>T (n.*16C>T) c.442C>T (n.442C>T) c.432C>T (p.Ser144=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.49016052G>C | CA406776138 | LHB | c.*16C>G (n.*16C>G) c.442C>G (n.442C>G) c.432C>G (p.Ser144Arg) | gnomAD v4 |
19 | g.49016052G= | CA2340186992 | LHB | c.*16C= (n.*16C=) c.442C= (n.442C=) c.432C= (p.Ser144=) | |
19 | g.49016052G>T | CA406776139 | LHB | c.*16C>A (n.*16C>A) c.442C>A (n.442C>A) c.432C>A (p.Ser144Arg) | gnomAD v4 |
19 | g.49016053C>A | CA406776141 | LHB | c.*15G>T (n.*15G>T) c.441G>T (n.441G>T) c.431G>T (p.Ser144Ile) | |
19 | g.49016053C= | CA2340186993 | LHB | c.*15G= (n.*15G=) c.441G= (n.441G=) c.431G= (p.Ser144=) | |
19 | g.49016053C>G | CA406776143 | LHB | c.*15G>C (n.*15G>C) c.441G>C (n.441G>C) c.431G>C (p.Ser144Thr) | |
19 | g.49016053C>T | CA406776145 | LHB | c.*15G>A (n.*15G>A) c.441G>A (n.441G>A) c.431G>A (p.Ser144Asn) | |
19 | g.49016054T>A | CA406776147 | LHB | c.*14A>T (n.*14A>T) c.440A>T (n.440A>T) c.430A>T (p.Ser144Cys) | |
19 | g.49016054T>C | CA309398551 | LHB | c.*14A>G (n.*14A>G) c.440A>G (n.440A>G) c.430A>G (p.Ser144Gly) | dbSNP gnomAD v4 |
19 | g.49016054T>G | CA406776150 | LHB | c.*14A>C (n.*14A>C) c.440A>C (n.440A>C) c.430A>C (p.Ser144Arg) | |
19 | g.49016054T= | CA2340186994 | LHB | c.*14A= (n.*14A=) c.440A= (n.440A=) c.430A= (p.Ser144=) | |
19 | g.49016054dup | CA883071545 | LHB | c.*14dup (n.*14dup) c.440dup (n.440dup) c.430dup (p.Ser144LysfsTer?) | dbSNP |
19 | g.49016055G>A | CA2576875947 | LHB | c.*13C>T (n.*13C>T) c.439C>T (n.439C>T) c.429C>T (p.Arg143=) | |
19 | g.49016055G>C | CA2586297849 | LHB | c.*13C>G (n.*13C>G) c.439C>G (n.439C>G) c.429C>G (p.Arg143=) | gnomAD v4 |
19 | g.49016056C>A | CA406776152 | LHB | c.*12G>T (n.*12G>T) c.438G>T (n.438G>T) c.428G>T (p.Arg143Leu) | |
19 | g.49016056C= | CA2340186995 | LHB | c.*12G= (n.*12G=) c.438G= (n.438G=) c.428G= (p.Arg143=) | |
19 | g.49016056C>G | CA309398560 | LHB | c.*12G>C (n.*12G>C) c.438G>C (n.438G>C) c.428G>C (p.Arg143Pro) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.49016056C>T | CA9564252 | LHB | c.*12G>A (n.*12G>A) c.438G>A (n.438G>A) c.428G>A (p.Arg143His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49016056dup | CA2576875949 | LHB | c.*12dup (n.*12dup) c.438dup (n.438dup) c.428dup (p.Ser144GlnfsTer?) | |
19 | g.49016057G>A | CA9564253 | LHB | c.*11C>T (n.*11C>T) c.437C>T (n.437C>T) c.427C>T (p.Arg143Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49016057G>C | CA9564254 | LHB | c.*11C>G (n.*11C>G) c.437C>G (n.437C>G) c.427C>G (p.Arg143Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.49016057G= | CA2340186998 | LHB | c.*11C= (n.*11C=) c.437C= (n.437C=) c.427C= (p.Arg143=) | |
19 | g.49016057G>T | CA406776157 | LHB | c.*11C>A (n.*11C>A) c.437C>A (n.437C>A) c.427C>A (p.Arg143Ser) | |
19 | g.49016058G>A | CA633889702 | LHB | c.*10C>T (n.*10C>T) c.436C>T (n.436C>T) c.426C>T (p.Pro142=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49016058G= | CA2340187000 | LHB | c.*10C= (n.*10C=) c.436C= (n.436C=) c.426C= (p.Pro142=) | |
19 | g.49016059G>A | CA406776164 | LHB | c.*9C>T (n.*9C>T) c.435C>T (n.435C>T) c.425C>T (p.Pro142Leu) | |
19 | g.49016059G>C | CA406776161 | LHB | c.*9C>G (n.*9C>G) c.435C>G (n.435C>G) c.425C>G (p.Pro142Arg) | |
19 | g.49016059G>T | CA406776160 | LHB | c.*9C>A (n.*9C>A) c.435C>A (n.435C>A) c.425C>A (p.Pro142His) | gnomAD v4 |
19 | g.49016060G>A | CA406776166 | LHB | c.*8C>T (n.*8C>T) c.434C>T (n.434C>T) c.424C>T (p.Pro142Ser) | gnomAD v3 gnomAD v4 |
19 | g.49016060G>C | CA406776168 | LHB | c.*8C>G (n.*8C>G) c.434C>G (n.434C>G) c.424C>G (p.Pro142Ala) | |
19 | g.49016060G>T | CA406776170 | LHB | c.*8C>A (n.*8C>A) c.434C>A (n.434C>A) c.424C>A (p.Pro142Thr) | |
19 | g.49016062G>A | CA406776172 | LHB | c.*6C>T (n.*6C>T) c.432C>T (n.432C>T) c.422C>T (p.Pro141Leu) | dbSNP gnomAD v4 |
19 | g.49016062G>C | CA406776174 | LHB | c.*6C>G (n.*6C>G) c.432C>G (n.432C>G) c.422C>G (p.Pro141Arg) | |
19 | g.49016062G= | CA2340187001 | LHB | c.*6C= (n.*6C=) c.432C= (n.432C=) c.422C= (p.Pro141=) | |
19 | g.49016062G>T | CA406776176 | LHB | c.*6C>A (n.*6C>A) c.432C>A (n.432C>A) c.422C>A (p.Pro141His) | |
19 | g.49016063G>A | CA406776179 | LHB | c.*5C>T (n.*5C>T) c.431C>T (n.431C>T) c.421C>T (p.Pro141Ser) | |
19 | g.49016063G>C | CA406776180 | LHB | c.*5C>G (n.*5C>G) c.431C>G (n.431C>G) c.421C>G (p.Pro141Ala) | |
19 | g.49016063G>T | CA406776181 | LHB | c.*5C>A (n.*5C>A) c.431C>A (n.431C>A) c.421C>A (p.Pro141Thr) | |
19 | g.49016064G>A | CA9564255 | LHB | c.*4C>T (n.*4C>T) c.430C>T (n.430C>T) c.420C>T (p.Asp140=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.49016064G>C | CA406776182 | LHB | c.*4C>G (n.*4C>G) c.430C>G (n.430C>G) c.420C>G (p.Asp140Glu) | |
19 | g.49016064G= | CA2340187003 | LHB | c.*4C= (n.*4C=) c.430C= (n.430C=) c.420C= (p.Asp140=) | |
19 | g.49016064G>T | CA406776183 | LHB | c.*4C>A (n.*4C>A) c.430C>A (n.430C>A) c.420C>A (p.Asp140Glu) | |
19 | g.49016065T>A | CA406776188 | LHB | c.*3A>T (n.*3A>T) c.429A>T (n.429A>T) c.419A>T (p.Asp140Val) | |
19 | g.49016065T>C | CA406776187 | LHB | c.*3A>G (n.*3A>G) c.429A>G (n.429A>G) c.419A>G (p.Asp140Gly) | gnomAD v4 |
19 | g.49016065T>G | CA406776185 | LHB | c.*3A>C (n.*3A>C) c.429A>C (n.429A>C) c.419A>C (p.Asp140Ala) | gnomAD v3 gnomAD v4 |
19 | g.49016066del | CA2814675259 | LHB | c.*2del (n.*2del) c.428del (n.428del) c.418del (p.Asp140ThrfsTer?) | |
19 | g.49016066C>A | CA309398583 | LHB | c.*2G>T (n.*2G>T) c.428G>T (n.428G>T) c.418G>T (p.Asp140Tyr) | dbSNP |
19 | g.49016066C= | CA2340187005 | LHB | c.*2G= (n.*2G=) c.428G= (n.428G=) c.418G= (p.Asp140=) | |
19 | g.49016066C>G | CA9564256 | LHB | c.*2G>C (n.*2G>C) c.428G>C (n.428G>C) c.418G>C (p.Asp140His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49016066C>T | CA406776192 | LHB | c.*2G>A (n.*2G>A) c.428G>A (n.428G>A) c.418G>A (p.Asp140Asn) | |
19 | g.49016067T>A | CA406776194 | LHB | c.*1A>T (n.*1A>T) c.427A>T (n.427A>T) c.417A>T (p.Lys139Asn) | |
19 | g.49016067T>C | CA2586297854 | LHB | c.*1A>G (n.*1A>G) c.427A>G (n.427A>G) c.417A>G (p.Lys139=) | gnomAD v4 |
19 | g.49016067T>G | CA406776196 | LHB | c.*1A>C (n.*1A>C) c.427A>C (n.427A>C) c.417A>C (p.Lys139Asn) | |
19 | g.49016068T>A | CA406776200 | LHB | c.426A>T (p.Ter142Tyr) c.416A>T (p.Lys139Ile) c.474A>T (p.Ter158Tyr) | |
19 | g.49016068T>C | CA9564257 | LHB | c.426A>G (p.Ter142=) c.416A>G (p.Lys139Arg) c.474A>G (p.Ter158=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49016068T>G | CA406776198 | LHB | c.426A>C (p.Ter142Tyr) c.416A>C (p.Lys139Thr) c.474A>C (p.Ter158Tyr) | |
19 | g.49016068T= | CA2340187007 | LHB | c.426A= (p.Ter142=) c.416A= (p.Lys139=) c.474A= (p.Ter158=) | |
19 | g.49016069T>A | CA406776203 | LHB | c.425A>T (p.Ter142Leu) c.415A>T (p.Lys139Ter) c.473A>T (p.Ter158Leu) | |
19 | g.49016069T>C | CA406776204 | LHB | c.425A>G (p.Ter142=) c.415A>G (p.Lys139Glu) c.473A>G (p.Ter158=) | gnomAD v4 |
19 | g.49016069T>G | CA406776206 | LHB | c.425A>C (p.Ter142Ser) c.415A>C (p.Lys139Gln) c.473A>C (p.Ter158Ser) | |
19 | g.49016070A>C | CA406776208 | LHB | c.424T>G (p.Ter142Glu) c.414T>G (p.Ser138=) c.472T>G (p.Ter158Glu) | |
19 | g.49016070A>G | CA406776210 | LHB | c.424T>C (p.Ter142Gln) c.414T>C (p.Ser138=) c.472T>C (p.Ter158Gln) | |
19 | g.49016070A>T | CA406776212 | LHB | c.424T>A (p.Ter142Lys) c.414T>A (p.Ser138=) c.472T>A (p.Ter158Lys) | gnomAD v4 |
19 | g.49016071G>A | CA406776215 | LHB | c.423C>T (p.Leu141=) c.413C>T (p.Ser138Phe) c.471C>T (p.Leu157=) | |
19 | g.49016071G>C | CA406776219 | LHB | c.423C>G (p.Leu141=) c.413C>G (p.Ser138Cys) c.471C>G (p.Leu157=) | gnomAD v4 |
19 | g.49016071G>T | CA406776217 | LHB | c.423C>A (p.Leu141=) c.413C>A (p.Ser138Tyr) c.471C>A (p.Leu157=) | COSMIC |
19 | g.49016072A>C | CA406776221 | LHB | c.422T>G (p.Leu141Arg) c.412T>G (p.Ser138Ala) c.470T>G (p.Leu157Arg) | |
19 | g.49016072A>G | CA406776222 | LHB | c.422T>C (p.Leu141Pro) c.412T>C (p.Ser138Pro) c.470T>C (p.Leu157Pro) | |
19 | g.49016072A>T | CA406776224 | LHB | c.422T>A (p.Leu141His) c.412T>A (p.Ser138Thr) c.470T>A (p.Leu157His) | |
19 | g.49016073G>A | CA406776227 | LHB | c.421C>T (p.Leu141Phe) c.411C>T (p.Ser137=) c.469C>T (p.Leu157Phe) | |
19 | g.49016073G>C | CA406776229 | LHB | c.421C>G (p.Leu141Val) c.411C>G (p.Ser137=) c.469C>G (p.Leu157Val) | |
19 | g.49016073G>T | CA406776231 | LHB | c.421C>A (p.Leu141Ile) c.411C>A (p.Ser137=) c.469C>A (p.Leu157Ile) | |
19 | g.49016074G>A | CA406776233 | LHB | c.420C>T (p.Phe140=) c.410C>T (p.Ser137Phe) c.468C>T (p.Phe156=) | gnomAD v4 |
19 | g.49016074G>C | CA406776235 | LHB | c.420C>G (p.Phe140Leu) c.410C>G (p.Ser137Cys) c.468C>G (p.Phe156Leu) | |
19 | g.49016074G>T | CA406776237 | LHB | c.420C>A (p.Phe140Leu) c.410C>A (p.Ser137Tyr) c.468C>A (p.Phe156Leu) | |
19 | g.49016075A>C | CA406776239 | LHB | c.419T>G (p.Phe140Cys) n.510T>G c.409T>G (p.Ser137Ala) c.467T>G (p.Phe156Cys) | |
19 | g.49016075A>G | CA406776241 | LHB | c.419T>C (p.Phe140Ser) n.510T>C c.409T>C (p.Ser137Pro) c.467T>C (p.Phe156Ser) | |
19 | g.49016075A>T | CA406776243 | LHB | c.419T>A (p.Phe140Tyr) n.510T>A c.409T>A (p.Ser137Thr) c.467T>A (p.Phe156Tyr) | |
19 | g.49016075_49016080delinsAAGAGG | CA2340187008 | LHB | c.414_419delinsCCTCTT (p.Leu138=) n.505_510delinsCCTCTT c.404_409delinsCCTCTT (p.Ser135=) c.462_467delinsCCTCTT (p.Leu154=) | |
19 | g.49016076A= | CA2340187010 | LHB | c.418T= (p.Phe140=) n.509T= c.408T= (p.Ser136=) c.466T= (p.Phe156=) | |
19 | g.49016076A>C | CA406776246 | LHB | c.418T>G (p.Phe140Val) n.509T>G c.408T>G (p.Ser136=) c.466T>G (p.Phe156Val) | dbSNP |
19 | g.49016076A>G | CA406776248 | LHB | c.418T>C (p.Phe140Leu) n.509T>C c.408T>C (p.Ser136=) c.466T>C (p.Phe156Leu) | |
19 | g.49016076A>T | CA406776245 | LHB | c.418T>A (p.Phe140Ile) n.509T>A c.408T>A (p.Ser136=) c.466T>A (p.Phe156Ile) | |
19 | g.49016076_49016079delinsAGAG | CA2340187011 | LHB | c.415_418delinsCTCT (p.Leu139=) n.506_509delinsCTCT c.405_408delinsCTCT (p.Ser135=) c.463_466delinsCTCT (p.Leu155=) | |
19 | g.49016078_49016082del | CA633889703 | LHB | c.414_418del (p.Leu139ProfsTer26) n.505_509del c.404_408del (p.Ser135PhefsTer3) c.462_466del (p.Leu155ProfsTer26) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.49016077G>A | CA406776250 | LHB | c.417C>T (p.Leu139=) n.508C>T c.407C>T (p.Ser136Phe) c.465C>T (p.Leu155=) | gnomAD v4 |
19 | g.49016077G>C | CA406776249 | LHB | c.417C>G (p.Leu139=) n.508C>G c.407C>G (p.Ser136Cys) c.465C>G (p.Leu155=) | |
19 | g.49016077G>T | CA406776251 | LHB | c.417C>A (p.Leu139=) n.508C>A c.407C>A (p.Ser136Tyr) c.465C>A (p.Leu155=) | |
19 | g.49016081_49016083del | CA9564258 | LHB | c.415_417del (p.Leu139del) n.506_508del c.405_407del (p.Ser136del) c.463_465del (p.Leu155del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49016078A>C | CA406776252 | LHB | c.416T>G (p.Leu139Arg) n.507T>G c.406T>G (p.Ser136Ala) c.464T>G (p.Leu155Arg) | |
19 | g.49016078A>G | CA406776253 | LHB | c.416T>C (p.Leu139Pro) n.507T>C c.406T>C (p.Ser136Pro) c.464T>C (p.Leu155Pro) | |
19 | g.49016078A>T | CA406776254 | LHB | c.416T>A (p.Leu139His) n.507T>A c.406T>A (p.Ser136Thr) c.464T>A (p.Leu155His) | |
19 | g.49016079G>A | CA9564259 | LHB | c.415C>T (p.Leu139Phe) n.506C>T c.405C>T (p.Ser135=) c.463C>T (p.Leu155Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49016079G>C | CA406776255 | LHB | c.415C>G (p.Leu139Val) n.506C>G c.405C>G (p.Ser135=) c.463C>G (p.Leu155Val) | |
19 | g.49016079G= | CA2340187015 | LHB | c.415C= (p.Leu139=) n.506C= c.405C= (p.Ser135=) c.463C= (p.Leu155=) | |
19 | g.49016079G>T | CA406776256 | LHB | c.415C>A (p.Leu139Ile) n.506C>A c.405C>A (p.Ser135=) c.463C>A (p.Leu155Ile) | |
19 | g.49016080del | CA2741636888 | LHB | c.415del (p.Leu139SerfsTer20) n.506del c.405del (p.Ser136LeufsTer?) c.463del (p.Leu155SerfsTer20) | |
19 | g.49016080G>A | CA406776257 | LHB | c.414C>T (p.Leu138=) n.505C>T c.404C>T (p.Ser135Phe) c.462C>T (p.Leu154=) | dbSNP |
19 | g.49016080G>C | CA406776258 | LHB | c.414C>G (p.Leu138=) n.505C>G c.404C>G (p.Ser135Cys) c.462C>G (p.Leu154=) | |
19 | g.49016080G= | CA2340186734 | LHB | c.414C= (p.Leu138=) n.505C= c.404C= (p.Ser135=) c.462C= (p.Leu154=) | |
19 | g.49016080G>T | CA406776259 | LHB | c.414C>A (p.Leu138=) n.505C>A c.404C>A (p.Ser135Tyr) c.462C>A (p.Leu154=) | |
19 | g.49016081A>C | CA406776260 | LHB | c.413T>G (p.Leu138Arg) n.504T>G c.403T>G (p.Ser135Ala) c.461T>G (p.Leu154Arg) | |
19 | g.49016081A>G | CA406776261 | LHB | c.413T>C (p.Leu138Pro) n.504T>C c.403T>C (p.Ser135Pro) c.461T>C (p.Leu154Pro) | |
19 | g.49016081A>T | CA406776262 | LHB | c.413T>A (p.Leu138His) n.504T>A c.403T>A (p.Ser135Thr) c.461T>A (p.Leu154His) | |
19 | g.49016081dup | CA2340186736 | LHB | c.413dup (p.Leu139ProfsTer28) n.504dup c.403dup (p.Ser135PhefsTer5) c.461dup (p.Leu155ProfsTer28) | dbSNP gnomAD v4 |
19 | g.49016082G>A | CA406776263 | LHB | c.412C>T (p.Leu138Phe) n.503C>T c.402C>T (p.Ala134=) c.460C>T (p.Leu154Phe) | gnomAD v4 |
19 | g.49016082G>C | CA406776264 | LHB | c.412C>G (p.Leu138Val) n.503C>G c.402C>G (p.Ala134=) c.460C>G (p.Leu154Val) | |
19 | g.49016082G>T | CA406776265 | LHB | c.412C>A (p.Leu138Ile) n.503C>A c.402C>A (p.Ala134=) c.460C>A (p.Leu154Ile) | COSMIC |
19 | g.49016083G>A | CA406776268 | LHB | c.411C>T (p.Gly137=) n.502C>T c.401C>T (p.Ala134Val) c.459C>T (p.Gly153=) | |
19 | g.49016083G>C | CA406776266 | LHB | c.411C>G (p.Gly137=) n.502C>G c.401C>G (p.Ala134Gly) c.459C>G (p.Gly153=) | |
19 | g.49016083G>T | CA406776267 | LHB | c.411C>A (p.Gly137=) n.502C>A c.401C>A (p.Ala134Asp) c.459C>A (p.Gly153=) | gnomAD v4 |
19 | g.49016084C>A | CA406776269 | LHB | c.410G>T (p.Gly137Val) n.501G>T c.400G>T (p.Ala134Ser) c.458G>T (p.Gly153Val) | |
19 | g.49016084C>G | CA406776270 | LHB | c.410G>C (p.Gly137Ala) n.501G>C c.400G>C (p.Ala134Pro) c.458G>C (p.Gly153Ala) | |
19 | g.49016084C>T | CA406776271 | LHB | c.410G>A (p.Gly137Asp) n.501G>A c.400G>A (p.Ala134Thr) c.458G>A (p.Gly153Asp) | |
19 | g.49016085C>A | CA406776272 | LHB | c.409G>T (p.Gly137Cys) n.500G>T c.399G>T (p.Gln133His) c.457G>T (p.Gly153Cys) | |
19 | g.49016085C>G | CA406776273 | LHB | c.409G>C (p.Gly137Arg) n.500G>C c.399G>C (p.Gln133His) c.457G>C (p.Gly153Arg) | |
19 | g.49016085C>T | CA406776274 | LHB | c.409G>A (p.Gly137Ser) n.500G>A c.399G>A (p.Gln133=) c.457G>A (p.Gly153Ser) | |
19 | g.49016086T>A | CA406776275 | LHB | c.408A>T (p.Ser136=) n.499A>T c.398A>T (p.Gln133Leu) c.456A>T (p.Ser152=) | gnomAD v4 |
19 | g.49016086T>C | CA406776276 | LHB | c.408A>G (p.Ser136=) n.499A>G c.398A>G (p.Gln133Arg) c.456A>G (p.Ser152=) | |
19 | g.49016086T>G | CA406776277 | LHB | c.408A>C (p.Ser136=) n.499A>C c.398A>C (p.Gln133Pro) c.456A>C (p.Ser152=) | |
19 | g.49016087G>A | CA406776278 | LHB | c.407C>T (p.Ser136Leu) n.498C>T c.397C>T (p.Gln133Ter) c.455C>T (p.Ser152Leu) | |
19 | g.49016087G>C | CA406776279 | LHB | c.407C>G (p.Ser136Ter) n.498C>G c.397C>G (p.Gln133Glu) c.455C>G (p.Ser152Ter) | |
19 | g.49016087G>T | CA406776280 | LHB | c.407C>A (p.Ser136Ter) n.498C>A c.397C>A (p.Gln133Lys) c.455C>A (p.Ser152Ter) | |
19 | g.49016090_49016091del | CA2586297857 | LHB | c.406_407del (p.Ser136ArgfsTer30) n.497_498del c.397-1_397del c.454_455del (p.Ser152ArgfsTer30) | gnomAD v4 |
19 | g.49016088A>C | CA406776281 | LHB | c.406T>G (p.Ser136Ala) n.497T>G c.397-1T>G (n.397-1T>G) c.454T>G (p.Ser152Ala) | |
19 | g.49016088A>G | CA406776283 | LHB | c.406T>C (p.Ser136Pro) n.497T>C c.397-1T>C (n.397-1T>C) c.454T>C (p.Ser152Pro) | |
19 | g.49016088A>T | CA406776282 | LHB | c.406T>A (p.Ser136Thr) n.497T>A c.397-1T>A (n.397-1T>A) c.454T>A (p.Ser152Thr) | |
19 | g.49016089G>A | CA406776284 | LHB | c.405C>T (p.Leu135=) n.496C>T c.397-2C>T (n.397-2C>T) c.453C>T (p.Leu151=) | |
19 | g.49016089G>C | CA406776285 | LHB | c.405C>G (p.Leu135=) n.496C>G c.397-2C>G (n.397-2C>G) c.453C>G (p.Leu151=) | |
19 | g.49016089G>T | CA406776286 | LHB | c.405C>A (p.Leu135=) n.496C>A c.397-2C>A (n.397-2C>A) c.453C>A (p.Leu151=) | |
19 | g.49016090A>C | CA406776287 | LHB | c.404T>G (p.Leu135Arg) n.495T>G c.397-3T>G (n.397-3T>G) c.452T>G (p.Leu151Arg) | |
19 | g.49016090A>G | CA406776288 | LHB | c.404T>C (p.Leu135Pro) n.495T>C c.397-3T>C (n.397-3T>C) c.452T>C (p.Leu151Pro) | |
19 | g.49016090A>T | CA406776289 | LHB | c.404T>A (p.Leu135His) n.495T>A c.397-3T>A (n.397-3T>A) c.452T>A (p.Leu151His) | |
19 | g.49016091G>A | CA406776290 | LHB | c.403C>T (p.Leu135Phe) n.494C>T c.396+1C>T (n.396+1C>T) c.451C>T (p.Leu151Phe) | |
19 | g.49016091G>C | CA406776291 | LHB | c.403C>G (p.Leu135Val) n.494C>G c.396+1C>G (n.396+1C>G) c.451C>G (p.Leu151Val) | |
19 | g.49016091G>T | CA406776292 | LHB | c.403C>A (p.Leu135Ile) n.494C>A c.396+1C>A (n.396+1C>A) c.451C>A (p.Leu151Ile) | |
19 | g.49016092T>A | CA406776293 | LHB | c.402A>T (p.Gln134His) n.493A>T c.396A>T (p.Gln132His) c.450A>T (p.Gln150His) | |
19 | g.49016092T>C | CA508277095 | LHB | c.402A>G (p.Gln134=) n.493A>G c.396A>G (p.Gln132=) c.450A>G (p.Gln150=) | |
19 | g.49016092T>G | CA406776294 | LHB | c.402A>C (p.Gln134His) n.493A>C c.396A>C (p.Gln132His) c.450A>C (p.Gln150His) | dbSNP |
19 | g.49016092T= | CA2340186738 | LHB | c.402A= (p.Gln134=) n.493A= c.396A= (p.Gln132=) c.450A= (p.Gln150=) | |
19 | g.49016093T>A | CA406776297 | LHB | c.401A>T (p.Gln134Leu) n.492A>T c.395A>T (p.Gln132Leu) c.449A>T (p.Gln150Leu) | |
19 | g.49016093T>C | CA406776296 | LHB | c.401A>G (p.Gln134Arg) n.492A>G c.395A>G (p.Gln132Arg) c.449A>G (p.Gln150Arg) | |
19 | g.49016093T>G | CA406776295 | LHB | c.401A>C (p.Gln134Pro) n.492A>C c.395A>C (p.Gln132Pro) c.449A>C (p.Gln150Pro) | |
19 | g.49016094G>A | CA406776300 | LHB | c.400C>T (p.Gln134Ter) n.491C>T c.394C>T (p.Gln132Ter) c.448C>T (p.Gln150Ter) | |
19 | g.49016094G>C | CA406776302 | LHB | c.400C>G (p.Gln134Glu) n.491C>G c.394C>G (p.Gln132Glu) c.448C>G (p.Gln150Glu) | gnomAD v4 |
19 | g.49016094G= | CA2340186739 | LHB | c.400C= (p.Gln134=) n.491C= c.394C= (p.Gln132=) c.448C= (p.Gln150=) | |
19 | g.49016094G>T | CA406776304 | LHB | c.400C>A (p.Gln134Lys) n.491C>A c.394C>A (p.Gln132Lys) c.448C>A (p.Gln150Lys) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.49016098dup | CA2586297858 | LHB | c.400dup (p.Gln134ProfsTer?) n.491dup c.394dup (p.Gln132ProfsTer8) c.448dup (p.Gln150ProfsTer?) | gnomAD v4 |
19 | g.49016098del | CA2586297859 | LHB | c.400del (p.Gln134AsnfsTer25) n.491del c.394del (p.Gln132AsnfsTer?) c.448del (p.Gln150AsnfsTer25) | gnomAD v4 |
19 | g.49016095G>A | CA508277098 | LHB | c.399C>T (p.Pro133=) n.490C>T c.393C>T (p.Pro131=) c.447C>T (p.Pro149=) | |
19 | g.49016095G>C | CA508277097 | LHB | c.399C>G (p.Pro133=) n.490C>G c.393C>G (p.Pro131=) c.447C>G (p.Pro149=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49016095G= | CA2340186740 | LHB | c.399C= (p.Pro133=) n.490C= c.393C= (p.Pro131=) c.447C= (p.Pro149=) | |
19 | g.49016095G>T | CA508277096 | LHB | c.399C>A (p.Pro133=) n.490C>A c.393C>A (p.Pro131=) c.447C>A (p.Pro149=) | |
19 | g.49016096G>A | CA406776307 | LHB | c.398C>T (p.Pro133Leu) n.489C>T c.392C>T (p.Pro131Leu) c.446C>T (p.Pro149Leu) | dbSNP COSMIC |
19 | g.49016096G>C | CA406776308 | LHB | c.398C>G (p.Pro133Arg) n.489C>G c.392C>G (p.Pro131Arg) c.446C>G (p.Pro149Arg) | |
19 | g.49016096G= | CA2340186741 | LHB | c.398C= (p.Pro133=) n.489C= c.392C= (p.Pro131=) c.446C= (p.Pro149=) | |
19 | g.49016096G>T | CA406776310 | LHB | c.398C>A (p.Pro133His) n.489C>A c.392C>A (p.Pro131His) c.446C>A (p.Pro149His) | |
19 | g.49016097G>A | CA406776312 | LHB | c.397C>T (p.Pro133Ser) n.488C>T c.391C>T (p.Pro131Ser) c.445C>T (p.Pro149Ser) | |
19 | g.49016097G>C | CA406776314 | LHB | c.397C>G (p.Pro133Ala) n.488C>G c.391C>G (p.Pro131Ala) c.445C>G (p.Pro149Ala) | |
19 | g.49016097G>T | CA406776316 | LHB | c.397C>A (p.Pro133Thr) n.488C>A c.391C>A (p.Pro131Thr) c.445C>A (p.Pro149Thr) | |
19 | g.49016098G>A | CA508277099 | LHB | c.396C>T (p.His132=) n.487C>T c.390C>T (p.His130=) c.444C>T (p.His148=) | dbSNP |
19 | g.49016098G>C | CA406776318 | LHB | c.396C>G (p.His132Gln) n.487C>G c.390C>G (p.His130Gln) c.444C>G (p.His148Gln) | gnomAD v4 |
19 | g.49016098G= | CA2340186742 | LHB | c.396C= (p.His132=) n.487C= c.390C= (p.His130=) c.444C= (p.His148=) | |
19 | g.49016098G>T | CA406776320 | LHB | c.396C>A (p.His132Gln) n.487C>A c.390C>A (p.His130Gln) c.444C>A (p.His148Gln) | gnomAD v4 |
19 | g.49016099T>A | CA406776324 | LHB | c.395A>T (p.His132Leu) n.486A>T c.389A>T (p.His130Leu) c.443A>T (p.His148Leu) | |
19 | g.49016099T>C | CA9564260 | LHB | c.395A>G (p.His132Arg) n.486A>G c.389A>G (p.His130Arg) c.443A>G (p.His148Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.49016099T>G | CA406776322 | LHB | c.395A>C (p.His132Pro) n.486A>C c.389A>C (p.His130Pro) c.443A>C (p.His148Pro) | gnomAD v3 gnomAD v4 |
19 | g.49016099T= | CA2340186743 | LHB | c.395A= (p.His132=) n.486A= c.389A= (p.His130=) c.443A= (p.His148=) | |
19 | g.49016099_49016100delinsTG | CA2340186744 | LHB | c.394_395delinsCA (p.His132=) n.485_486delinsCA c.388_389delinsCA (p.His130=) c.442_443delinsCA (p.His148=) | |
19 | g.49016100G>A | CA9564261 | LHB | c.394C>T (p.His132Tyr) n.485C>T c.388C>T (p.His130Tyr) c.442C>T (p.His148Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.49016100G>C | CA406776329 | LHB | c.394C>G (p.His132Asp) n.485C>G c.388C>G (p.His130Asp) c.442C>G (p.His148Asp) | dbSNP gnomAD v4 |
19 | g.49016100G= | CA2340186745 | LHB | c.394C= (p.His132=) n.485C= c.388C= (p.His130=) c.442C= (p.His148=) | |
19 | g.49016100G>T | CA406776327 | LHB | c.394C>A (p.His132Asn) n.485C>A c.388C>A (p.His130Asn) c.442C>A (p.His148Asn) | gnomAD v4 |
19 | g.49016101del | CA633889704 | LHB | c.394del (p.His132ThrfsTer27) n.485del c.388del (p.His130ThrfsTer?) c.442del (p.His148ThrfsTer27) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.49016101G>A | CA508277100 | LHB | c.393C>T (p.Asp131=) n.484C>T c.387C>T (p.Asp129=) c.441C>T (p.Asp147=) | dbSNP gnomAD v4 |
19 | g.49016101G>C | CA406776332 | LHB | c.393C>G (p.Asp131Glu) n.484C>G c.387C>G (p.Asp129Glu) c.441C>G (p.Asp147Glu) | |
19 | g.49016101G= | CA2340186746 | LHB | c.393C= (p.Asp131=) n.484C= c.387C= (p.Asp129=) c.441C= (p.Asp147=) | |
19 | g.49016101G>T | CA9564262 | LHB | c.393C>A (p.Asp131Glu) n.484C>A c.387C>A (p.Asp129Glu) c.441C>A (p.Asp147Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.49016102T>A | CA406776334 | LHB | c.392A>T (p.Asp131Val) n.483A>T c.386A>T (p.Asp129Val) c.440A>T (p.Asp147Val) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.49016102T>C | CA406776336 | LHB | c.392A>G (p.Asp131Gly) n.483A>G c.386A>G (p.Asp129Gly) c.440A>G (p.Asp147Gly) | |
19 | g.49016102T>G | CA406776337 | LHB | c.392A>C (p.Asp131Ala) n.483A>C c.386A>C (p.Asp129Ala) c.440A>C (p.Asp147Ala) | |
19 | g.49016102T= | CA2340186748 | LHB | c.392A= (p.Asp131=) n.483A= c.386A= (p.Asp129=) c.440A= (p.Asp147=) | |
19 | g.49016103C>A | CA406776339 | LHB | c.391G>T (p.Asp131Tyr) n.482G>T c.385G>T (p.Asp129Tyr) c.439G>T (p.Asp147Tyr) | |
19 | g.49016103C>G | CA406776340 | LHB | c.391G>C (p.Asp131His) n.482G>C c.385G>C (p.Asp129His) c.439G>C (p.Asp147His) | |
19 | g.49016103C>T | CA406776341 | LHB | c.391G>A (p.Asp131Asn) n.482G>A c.385G>A (p.Asp129Asn) c.439G>A (p.Asp147Asn) | |
19 | g.49016104A>C | CA406776344 | LHB | c.390T>G (p.Cys130Trp) n.481T>G c.384T>G (p.Cys128Trp) c.438T>G (p.Cys146Trp) | |
19 | g.49016104A>G | CA508277101 | LHB | c.390T>C (p.Cys130=) n.481T>C c.384T>C (p.Cys128=) c.438T>C (p.Cys146=) | |
19 | g.49016104A>T | CA406776346 | LHB | c.390T>A (p.Cys130Ter) n.481T>A c.384T>A (p.Cys128Ter) c.438T>A (p.Cys146Ter) | |
19 | g.49016105C>A | CA406776352 | LHB | c.389G>T (p.Cys130Phe) n.480G>T c.383G>T (p.Cys128Phe) c.437G>T (p.Cys146Phe) | |
19 | g.49016105C>G | CA406776350 | LHB | c.389G>C (p.Cys130Ser) n.480G>C c.383G>C (p.Cys128Ser) c.437G>C (p.Cys146Ser) | |
19 | g.49016105C>T | CA406776348 | LHB | c.389G>A (p.Cys130Tyr) n.480G>A c.383G>A (p.Cys128Tyr) c.437G>A (p.Cys146Tyr) | |
19 | g.49016106A>C | CA406776354 | LHB | c.388T>G (p.Cys130Gly) n.479T>G c.382T>G (p.Cys128Gly) c.436T>G (p.Cys146Gly) | |
19 | g.49016106A>G | CA406776355 | LHB | c.388T>C (p.Cys130Arg) n.479T>C c.382T>C (p.Cys128Arg) c.436T>C (p.Cys146Arg) | |
19 | g.49016106A>T | CA406776356 | LHB | c.388T>A (p.Cys130Ser) n.479T>A c.382T>A (p.Cys128Ser) c.436T>A (p.Cys146Ser) | |
19 | g.49016107G>A | CA508277102 | LHB | c.387C>T (p.Thr129=) n.478C>T c.381C>T (p.Thr127=) c.435C>T (p.Thr145=) | gnomAD v4 |
19 | g.49016107G>C | CA508277103 | LHB | c.387C>G (p.Thr129=) n.478C>G c.381C>G (p.Thr127=) c.435C>G (p.Thr145=) | |
19 | g.49016107G>T | CA508277104 | LHB | c.387C>A (p.Thr129=) n.478C>A c.381C>A (p.Thr127=) c.435C>A (p.Thr145=) | |
19 | g.49016108G>A | CA9564263 | LHB | c.386C>T (p.Thr129Ile) n.477C>T c.380C>T (p.Thr127Ile) c.434C>T (p.Thr145Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49016108G>C | CA406776357 | LHB | c.386C>G (p.Thr129Ser) n.477C>G c.380C>G (p.Thr127Ser) c.434C>G (p.Thr145Ser) | |
19 | g.49016108G= | CA2340186750 | LHB | c.386C= (p.Thr129=) n.477C= c.380C= (p.Thr127=) c.434C= (p.Thr145=) | |
19 | g.49016108G>T | CA406776359 | LHB | c.386C>A (p.Thr129Asn) n.477C>A c.380C>A (p.Thr127Asn) c.434C>A (p.Thr145Asn) | |
19 | g.49016109T>A | CA406776361 | LHB | c.385A>T (p.Thr129Ser) n.476A>T c.379A>T (p.Thr127Ser) c.433A>T (p.Thr145Ser) | |
19 | g.49016109T>C | CA406776369 | LHB | c.385A>G (p.Thr129Ala) n.476A>G c.379A>G (p.Thr127Ala) c.433A>G (p.Thr145Ala) | dbSNP |
19 | g.49016109T>G | CA406776371 | LHB | c.385A>C (p.Thr129Pro) n.476A>C c.379A>C (p.Thr127Pro) c.433A>C (p.Thr145Pro) | |
19 | g.49016110C>A | CA406776373 | LHB | c.384G>T (p.Leu128Phe) n.475G>T c.378G>T (p.Leu126Phe) c.432G>T (p.Leu144Phe) | |
19 | g.49016110C>G | CA406776375 | LHB | c.384G>C (p.Leu128Phe) n.475G>C c.378G>C (p.Leu126Phe) c.432G>C (p.Leu144Phe) | |
19 | g.49016110C>T | CA508277105 | LHB | c.384G>A (p.Leu128=) n.475G>A c.378G>A (p.Leu126=) c.432G>A (p.Leu144=) | COSMIC |
19 | g.49016111A>C | CA406776379 | LHB | c.383T>G (p.Leu128Trp) n.474T>G c.377T>G (p.Leu126Trp) c.431T>G (p.Leu144Trp) | |
19 | g.49016111A>G | CA406776381 | LHB | c.383T>C (p.Leu128Ser) n.474T>C c.377T>C (p.Leu126Ser) c.431T>C (p.Leu144Ser) | |
19 | g.49016111A>T | CA406776377 | LHB | c.383T>A (p.Leu128Ter) n.474T>A c.377T>A (p.Leu126Ter) c.431T>A (p.Leu144Ter) | |
19 | g.49016112A>C | CA406776383 | LHB | c.382T>G (p.Leu128Val) n.473T>G c.376T>G (p.Leu126Val) c.430T>G (p.Leu144Val) | |
19 | g.49016112A>G | CA508277106 | LHB | c.382T>C (p.Leu128=) n.473T>C c.376T>C (p.Leu126=) c.430T>C (p.Leu144=) | |
19 | g.49016112A>T | CA406776384 | LHB | c.382T>A (p.Leu128Met) n.473T>A c.376T>A (p.Leu126Met) c.430T>A (p.Leu144Met) | |
19 | g.49016112_49016113delinsAG | CA2340186753 | LHB | c.381_382delinsCT (p.Pro127=) n.472_473delinsCT c.375_376delinsCT (p.Pro125=) c.429_430delinsCT (p.Pro143=) | |
19 | g.49016113G>A | CA508277211 | LHB | c.381C>T (p.Pro127=) n.472C>T c.375C>T (p.Pro125=) c.429C>T (p.Pro143=) | gnomAD v4 |
19 | g.49016113G>C | CA508277212 | LHB | c.381C>G (p.Pro127=) n.472C>G c.375C>G (p.Pro125=) c.429C>G (p.Pro143=) | gnomAD v4 |
19 | g.49016113G>T | CA508277213 | LHB | c.381C>A (p.Pro127=) n.472C>A c.375C>A (p.Pro125=) c.429C>A (p.Pro143=) | |
19 | g.49016116del | CA883071632 | LHB | c.381del (p.Leu128Ter) n.472del c.375del (p.Leu126Ter) c.429del (p.Leu144Ter) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.49016114G>A | CA406777046 | LHB | c.380C>T (p.Pro127Leu) n.471C>T c.374C>T (p.Pro125Leu) c.428C>T (p.Pro143Leu) | |
19 | g.49016114G>C | CA406777048 | LHB | c.380C>G (p.Pro127Arg) n.471C>G c.374C>G (p.Pro125Arg) c.428C>G (p.Pro143Arg) | dbSNP |
19 | g.49016114G= | CA2340186755 | LHB | c.380C= (p.Pro127=) n.471C= c.374C= (p.Pro125=) c.428C= (p.Pro143=) | |
19 | g.49016114G>T | CA406777050 | LHB | c.380C>A (p.Pro127His) n.471C>A c.374C>A (p.Pro125His) c.428C>A (p.Pro143His) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.49016115G>A | CA406777051 | LHB | c.379C>T (p.Pro127Ser) n.470C>T c.373C>T (p.Pro125Ser) c.427C>T (p.Pro143Ser) | |
19 | g.49016115G>C | CA406777053 | LHB | c.379C>G (p.Pro127Ala) n.470C>G c.373C>G (p.Pro125Ala) c.427C>G (p.Pro143Ala) | dbSNP |
19 | g.49016115G>T | CA406777055 | LHB | c.379C>A (p.Pro127Thr) n.470C>A c.373C>A (p.Pro125Thr) c.427C>A (p.Pro143Thr) |