Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.135798041_135798042delinsAG | CA1290826512 | LCT | c.4963_4964delinsCT (p.Leu1655=) c.3056_3057delinsCT (n.3056_3057delinsCT) | |
2 | g.135798042G>A | CA56602607 | LCT | c.4963C>T (p.Leu1655Phe) c.3056C>T (n.3056C>T) | dbSNP |
2 | g.135798042G>C | CA348590844 | LCT | c.4963C>G (p.Leu1655Val) c.3056C>G (n.3056C>G) | |
2 | g.135798042G= | CA1290826513 | LCT | c.4963C= (p.Leu1655=) c.3056C= (n.3056C=) | |
2 | g.135798042G>T | CA348590845 | LCT | c.4963C>A (p.Leu1655Ile) c.3056C>A (n.3056C>A) | gnomAD v4 |
2 | g.135798043del | CA56602602 | LCT | c.4963del (p.Leu1655SerfsTer?) c.3056del (n.3056del) | dbSNP |
2 | g.135798043G>A | CA429086151 | LCT | c.4962C>T (p.Gly1654=) c.3055C>T (n.3055C>T) | |
2 | g.135798043G>C | CA429086150 | LCT | c.4962C>G (p.Gly1654=) c.3055C>G (n.3055C>G) | |
2 | g.135798043G= | CA1290826514 | LCT | c.4962C= (p.Gly1654=) c.3055C= (n.3055C=) | |
2 | g.135798043G>T | CA56602628 | LCT | c.4962C>A (p.Gly1654=) c.3055C>A (n.3055C>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.135798044C>A | CA348590848 | LCT | c.4961G>T (p.Gly1654Val) c.3054G>T (n.3054G>T) | |
2 | g.135798044C>G | CA348590846 | LCT | c.4961G>C (p.Gly1654Ala) c.3054G>C (n.3054G>C) | |
2 | g.135798044C>T | CA348590847 | LCT | c.4961G>A (p.Gly1654Asp) c.3054G>A (n.3054G>A) | gnomAD v4 |
2 | g.135798045C>A | CA348590849 | LCT | c.4960G>T (p.Gly1654Cys) c.3053G>T (n.3053G>T) | |
2 | g.135798045C= | CA1290826515 | LCT | c.4960G= (p.Gly1654=) c.3053G= (n.3053G=) | |
2 | g.135798045C>G | CA348590850 | LCT | c.4960G>C (p.Gly1654Arg) c.3053G>C (n.3053G>C) | |
2 | g.135798045C>T | CA348590851 | LCT | c.4960G>A (p.Gly1654Ser) c.3053G>A (n.3053G>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.135798046T>A | CA429086155 | LCT | c.4959A>T (p.Ala1653=) c.3052A>T (n.3052A>T) | |
2 | g.135798046T>C | CA429086154 | LCT | c.4959A>G (p.Ala1653=) c.3052A>G (n.3052A>G) | |
2 | g.135798046T>G | CA429086153 | LCT | c.4959A>C (p.Ala1653=) c.3052A>C (n.3052A>C) | |
2 | g.135798047G>A | CA348590852 | LCT | c.4958C>T (p.Ala1653Val) c.3051C>T (n.3051C>T) | |
2 | g.135798047G>C | CA348590853 | LCT | c.4958C>G (p.Ala1653Gly) c.3051C>G (n.3051C>G) | |
2 | g.135798047G>T | CA348590854 | LCT | c.4958C>A (p.Ala1653Glu) c.3051C>A (n.3051C>A) | |
2 | g.135798048C>A | CA348590855 | LCT | c.4957G>T (p.Ala1653Ser) c.3050G>T (n.3050G>T) | |
2 | g.135798048C>G | CA348590856 | LCT | c.4957G>C (p.Ala1653Pro) c.3050G>C (n.3050G>C) | |
2 | g.135798048C>T | CA348590857 | LCT | c.4957G>A (p.Ala1653Thr) c.3050G>A (n.3050G>A) | |
2 | g.135798049A>C | CA429086157 | LCT | c.4956T>G (p.Ala1652=) c.3049T>G (n.3049T>G) | |
2 | g.135798049A>G | CA429086159 | LCT | c.4956T>C (p.Ala1652=) c.3049T>C (n.3049T>C) | |
2 | g.135798049A>T | CA429086158 | LCT | c.4956T>A (p.Ala1652=) c.3049T>A (n.3049T>A) | |
2 | g.135798050G>A | CA348590858 | LCT | c.4955C>T (p.Ala1652Val) c.3048C>T (n.3048C>T) | gnomAD v4 |
2 | g.135798050G>C | CA348590859 | LCT | c.4955C>G (p.Ala1652Gly) c.3048C>G (n.3048C>G) | |
2 | g.135798050G>T | CA348590860 | LCT | c.4955C>A (p.Ala1652Asp) c.3048C>A (n.3048C>A) | gnomAD v4 |
2 | g.135798051C>A | CA348590863 | LCT | c.4954G>T (p.Ala1652Ser) c.3047G>T (n.3047G>T) | |
2 | g.135798051C>G | CA348590862 | LCT | c.4954G>C (p.Ala1652Pro) c.3047G>C (n.3047G>C) | gnomAD v4 |
2 | g.135798051C>T | CA348590861 | LCT | c.4954G>A (p.Ala1652Thr) c.3047G>A (n.3047G>A) | gnomAD v4 |
2 | g.135798052C>A | CA348590865 | LCT | c.4953G>T (p.Leu1651Phe) c.3046G>T (n.3046G>T) | |
2 | g.135798052C>G | CA348590864 | LCT | c.4953G>C (p.Leu1651Phe) c.3046G>C (n.3046G>C) | gnomAD v4 |
2 | g.135798052C>T | CA429086161 | LCT | c.4953G>A (p.Leu1651=) c.3046G>A (n.3046G>A) | gnomAD v4 |
2 | g.135798053A>C | CA348590866 | LCT | c.4952T>G (p.Leu1651Trp) c.3045T>G (n.3045T>G) | |
2 | g.135798053A>G | CA348590867 | LCT | c.4952T>C (p.Leu1651Ser) c.3045T>C (n.3045T>C) | |
2 | g.135798053A>T | CA348590868 | LCT | c.4952T>A (p.Leu1651Ter) c.3045T>A (n.3045T>A) | |
2 | g.135798054A>C | CA348590869 | LCT | c.4951T>G (p.Leu1651Val) c.3044T>G (n.3044T>G) | |
2 | g.135798054A>G | CA429086162 | LCT | c.4951T>C (p.Leu1651=) c.3044T>C (n.3044T>C) | |
2 | g.135798054A>T | CA348590870 | LCT | c.4951T>A (p.Leu1651Met) c.3044T>A (n.3044T>A) | |
2 | g.135798055G>A | CA429086163 | LCT | c.4950C>T (p.Ser1650=) c.3043C>T (n.3043C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.135798055G>C | CA348590871 | LCT | c.4950C>G (p.Ser1650Arg) c.3043C>G (n.3043C>G) | |
2 | g.135798055G= | CA1290826516 | LCT | c.4950C= (p.Ser1650=) c.3043C= (n.3043C=) | |
2 | g.135798055G>T | CA348590872 | LCT | c.4950C>A (p.Ser1650Arg) c.3043C>A (n.3043C>A) | ClinVar dbSNP gnomAD v4 |
2 | g.[135798055G>T;135804868G>A] | CA1139767761 | LCT | c.[4363C>T;4950C>A] (p.[Arg1455Cys;Ser1650Arg]) c.[2659C>T;3043C>A] ([p.Arg887Cys;n.3043C>A]) | |
2 | g.135798056C>A | CA348590873 | LCT | c.4949G>T (p.Ser1650Ile) c.3042G>T (n.3042G>T) |