Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.135798016A>G | CA2661274451 | LCT | c.4976+13T>C (n.4976+13T>C) c.3069+13T>C (n.3069+13T>C) | gnomAD v4 |
2 | g.135798016A>T | CA2661274452 | LCT | c.4976+13T>A (n.4976+13T>A) c.3069+13T>A (n.3069+13T>A) | gnomAD v4 |
2 | g.135798017C= | CA1290826502 | LCT | c.4976+12G= (n.4976+12G=) c.3069+12G= (n.3069+12G=) | |
2 | g.135798017C>T | CA1887726 | LCT | c.4976+12G>A (n.4976+12G>A) c.3069+12G>A (n.3069+12G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.135798018del | CA2577107812 | LCT | c.4976+12del (n.4976+12del) c.3069+12del (n.3069+12del) | gnomAD v4 |
2 | g.135798018C>T | CA2661274453 | LCT | c.4976+11G>A (n.4976+11G>A) c.3069+11G>A (n.3069+11G>A) | gnomAD v4 |
2 | g.135798019A>G | CA2661274454 | LCT | c.4976+10T>C (n.4976+10T>C) c.3069+10T>C (n.3069+10T>C) | gnomAD v4 |
2 | g.135798020G>A | CA2661274455 | LCT | c.4976+9C>T (n.4976+9C>T) c.3069+9C>T (n.3069+9C>T) | gnomAD v4 |
2 | g.135798020G>T | CA2661274456 | LCT | c.4976+9C>A (n.4976+9C>A) c.3069+9C>A (n.3069+9C>A) | gnomAD v4 |
2 | g.135798021G>A | CA2661274458 | LCT | c.4976+8C>T (n.4976+8C>T) c.3069+8C>T (n.3069+8C>T) | gnomAD v4 |
2 | g.135798021G>C | CA2661274459 | LCT | c.4976+8C>G (n.4976+8C>G) c.3069+8C>G (n.3069+8C>G) | gnomAD v4 |
2 | g.135798021G>T | CA2661274457 | LCT | c.4976+8C>A (n.4976+8C>A) c.3069+8C>A (n.3069+8C>A) | gnomAD v4 |
2 | g.135798022C>A | CA2661274461 | LCT | c.4976+7G>T (n.4976+7G>T) c.3069+7G>T (n.3069+7G>T) | gnomAD v4 |
2 | g.135798022C= | CA1290826503 | LCT | c.4976+7G= (n.4976+7G=) c.3069+7G= (n.3069+7G=) | |
2 | g.135798022C>T | CA757423523 | LCT | c.4976+7G>A (n.4976+7G>A) c.3069+7G>A (n.3069+7G>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.135798024del | CA2661274460 | LCT | c.4976+7del (n.4976+7del) c.3069+7del (n.3069+7del) | gnomAD v4 |
2 | g.135798023C= | CA1290826504 | LCT | c.4976+6G= (n.4976+6G=) c.3069+6G= (n.3069+6G=) | |
2 | g.135798023C>T | CA1887727 | LCT | c.4976+6G>A (n.4976+6G>A) c.3069+6G>A (n.3069+6G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.135798024C>G | CA2661274462 | LCT | c.4976+5G>C (n.4976+5G>C) c.3069+5G>C (n.3069+5G>C) | gnomAD v4 |
2 | g.135798025T>A | CA2661274463 | LCT | c.4976+4A>T (n.4976+4A>T) c.3069+4A>T (n.3069+4A>T) | gnomAD v4 |
2 | g.135798026del | CA2577107813 | LCT | c.4976+4del (n.4976+4del) c.3069+4del (n.3069+4del) | |
2 | g.135798027A>C | CA348590811 | LCT | c.4976+2T>G (n.4976+2T>G) c.3069+2T>G (n.3069+2T>G) | |
2 | g.135798027A>G | CA348590812 | LCT | c.4976+2T>C (n.4976+2T>C) c.3069+2T>C (n.3069+2T>C) | |
2 | g.135798027A>T | CA348590813 | LCT | c.4976+2T>A (n.4976+2T>A) c.3069+2T>A (n.3069+2T>A) | gnomAD v4 |
2 | g.135798027dup | CA2528671300 | LCT | c.4976+2dup (n.4976+2dup) c.3069+2dup (n.3069+2dup) | |
2 | g.135798028C>A | CA348590814 | LCT | c.4976+1G>T (n.4976+1G>T) c.3069+1G>T (n.3069+1G>T) | ClinVar |
2 | g.135798028C>G | CA348590815 | LCT | c.4976+1G>C (n.4976+1G>C) c.3069+1G>C (n.3069+1G>C) | |
2 | g.135798028C>T | CA348590816 | LCT | c.4976+1G>A (n.4976+1G>A) c.3069+1G>A (n.3069+1G>A) | gnomAD v4 |
2 | g.135798028_135798038delinsCCGAGACTTGT | CA1290826505 | LCT | c.4967_4976+1delinsACAAGTCTCGG c.3060_3069+1delinsACAAGTCTCGG | |
2 | g.135798029C>A | CA348590818 | LCT | c.4976G>T (p.Arg1659Leu) c.3069G>T (n.3069G>T) | |
2 | g.135798029C= | CA1290826507 | LCT | c.4976G= (p.Arg1659=) c.3069G= (n.3069G=) | |
2 | g.135798029C>G | CA348590819 | LCT | c.4976G>C (p.Arg1659Pro) c.3069G>C (n.3069G>C) | |
2 | g.135798029C>T | CA348590817 | LCT | c.4976G>A (p.Arg1659Gln) c.3069G>A (n.3069G>A) | dbSNP gnomAD v4 COSMIC |
2 | g.135798029_135798038del | CA1290826506 | LCT | c.4967_4976del (p.Asn1656SerfsTer?) c.3060_3069del (n.3060_3069del) | ClinVar dbSNP gnomAD v4 |
2 | g.135798030G>A | CA1887728 | LCT | c.4975C>T (p.Arg1659Trp) c.3068C>T (n.3068C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.135798030G>C | CA348590820 | LCT | c.4975C>G (p.Arg1659Gly) c.3068C>G (n.3068C>G) | |
2 | g.135798030G= | CA1290826508 | LCT | c.4975C= (p.Arg1659=) c.3068C= (n.3068C=) | |
2 | g.135798030G>T | CA429086136 | LCT | c.4975C>A (p.Arg1659=) c.3068C>A (n.3068C>A) | gnomAD v4 |
2 | g.135798031A>C | CA429086137 | LCT | c.4974T>G (p.Ser1658=) c.3067T>G (n.3067T>G) | |
2 | g.135798031A>G | CA429086138 | LCT | c.4974T>C (p.Ser1658=) c.3067T>C (n.3067T>C) | |
2 | g.135798031A>T | CA429086140 | LCT | c.4974T>A (p.Ser1658=) c.3067T>A (n.3067T>A) | |
2 | g.135798032G>A | CA348590821 | LCT | c.4973C>T (p.Ser1658Phe) c.3066C>T (n.3066C>T) | |
2 | g.135798032G>C | CA348590822 | LCT | c.4973C>G (p.Ser1658Cys) c.3066C>G (n.3066C>G) | |
2 | g.135798032G>T | CA348590823 | LCT | c.4973C>A (p.Ser1658Tyr) c.3066C>A (n.3066C>A) | gnomAD v4 |
2 | g.135798033A>C | CA348590826 | LCT | c.4972T>G (p.Ser1658Ala) c.3065T>G (n.3065T>G) | |
2 | g.135798033A>G | CA348590824 | LCT | c.4972T>C (p.Ser1658Pro) c.3065T>C (n.3065T>C) | |
2 | g.135798033A>T | CA348590825 | LCT | c.4972T>A (p.Ser1658Thr) c.3065T>A (n.3065T>A) | |
2 | g.135798034C>A | CA1887729 | LCT | c.4971G>T (p.Lys1657Asn) c.3064G>T (n.3064G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.135798034C= | CA1290826509 | LCT | c.4971G= (p.Lys1657=) c.3064G= (n.3064G=) | |
2 | g.135798034C>G | CA348590827 | LCT | c.4971G>C (p.Lys1657Asn) c.3064G>C (n.3064G>C) | |
2 | g.135798034C>T | CA429086142 | LCT | c.4971G>A (p.Lys1657=) c.3064G>A (n.3064G>A) | |
2 | g.135798035T>A | CA348590828 | LCT | c.4970A>T (p.Lys1657Met) c.3063A>T (n.3063A>T) | |
2 | g.135798035T>C | CA348590829 | LCT | c.4970A>G (p.Lys1657Arg) c.3063A>G (n.3063A>G) | |
2 | g.135798035T>G | CA348590830 | LCT | c.4970A>C (p.Lys1657Thr) c.3063A>C (n.3063A>C) | |
2 | g.135798036T>A | CA348590833 | LCT | c.4969A>T (p.Lys1657Ter) c.3062A>T (n.3062A>T) | |
2 | g.135798036T>C | CA348590832 | LCT | c.4969A>G (p.Lys1657Glu) c.3062A>G (n.3062A>G) | |
2 | g.135798036T>G | CA348590831 | LCT | c.4969A>C (p.Lys1657Gln) c.3062A>C (n.3062A>C) | |
2 | g.135798037G>A | CA429086144 | LCT | c.4968C>T (p.Asn1656=) c.3061C>T (n.3061C>T) | |
2 | g.135798037G>C | CA1887730 | LCT | c.4968C>G (p.Asn1656Lys) c.3061C>G (n.3061C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.135798037G= | CA1290826510 | LCT | c.4968C= (p.Asn1656=) c.3061C= (n.3061C=) | |
2 | g.135798037G>T | CA348590834 | LCT | c.4968C>A (p.Asn1656Lys) c.3061C>A (n.3061C>A) | gnomAD v4 |
2 | g.135798038T>A | CA348590835 | LCT | c.4967A>T (p.Asn1656Ile) c.3060A>T (n.3060A>T) | |
2 | g.135798038T>C | CA348590836 | LCT | c.4967A>G (p.Asn1656Ser) c.3060A>G (n.3060A>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.135798038T>G | CA348590837 | LCT | c.4967A>C (p.Asn1656Thr) c.3060A>C (n.3060A>C) | |
2 | g.135798038T= | CA1290826511 | LCT | c.4967A= (p.Asn1656=) c.3060A= (n.3060A=) | |
2 | g.135798039T>A | CA348590838 | LCT | c.4966A>T (p.Asn1656Tyr) c.3059A>T (n.3059A>T) | |
2 | g.135798039T>C | CA348590839 | LCT | c.4966A>G (p.Asn1656Asp) c.3059A>G (n.3059A>G) | |
2 | g.135798039T>G | CA348590840 | LCT | c.4966A>C (p.Asn1656His) c.3059A>C (n.3059A>C) | |
2 | g.135798040G>A | CA429086145 | LCT | c.4965C>T (p.Leu1655=) c.3058C>T (n.3058C>T) | gnomAD v4 |
2 | g.135798040G>C | CA429086146 | LCT | c.4965C>G (p.Leu1655=) c.3058C>G (n.3058C>G) | |
2 | g.135798040G>T | CA429086148 | LCT | c.4965C>A (p.Leu1655=) c.3058C>A (n.3058C>A) | |
2 | g.135798041A>C | CA348590841 | LCT | c.4964T>G (p.Leu1655Arg) c.3057T>G (n.3057T>G) | |
2 | g.135798041A>G | CA348590842 | LCT | c.4964T>C (p.Leu1655Pro) c.3057T>C (n.3057T>C) | |
2 | g.135798041A>T | CA348590843 | LCT | c.4964T>A (p.Leu1655His) c.3057T>A (n.3057T>A) | gnomAD v4 |
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) | |
2 | g.135798056C>G | CA348590874 | LCT | c.4949G>C (p.Ser1650Thr) c.3042G>C (n.3042G>C) | |
2 | g.135798056C>T | CA348590875 | LCT | c.4949G>A (p.Ser1650Asn) c.3042G>A (n.3042G>A) | gnomAD v4 |
2 | g.135798057T>A | CA348590876 | LCT | c.4948A>T (p.Ser1650Cys) c.3041A>T (n.3041A>T) | |
2 | g.135798057T>C | CA348590877 | LCT | c.4948A>G (p.Ser1650Gly) c.3041A>G (n.3041A>G) | |
2 | g.135798057T>G | CA348590878 | LCT | c.4948A>C (p.Ser1650Arg) c.3041A>C (n.3041A>C) | |
2 | g.135798058C>A | CA1887731 | LCT | c.4947G>T (p.Arg1649Ser) c.3040G>T (n.3040G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.135798058C= | CA1290826517 | LCT | c.4947G= (p.Arg1649=) c.3040G= (n.3040G=) | |
2 | g.135798058C>G | CA348590879 | LCT | c.4947G>C (p.Arg1649Ser) c.3040G>C (n.3040G>C) | |
2 | g.135798058C>T | CA429086165 | LCT | c.4947G>A (p.Arg1649=) c.3040G>A (n.3040G>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.135798059C>A | CA348590880 | LCT | c.4946G>T (p.Arg1649Met) c.3039G>T (n.3039G>T) | |
2 | g.135798059C>G | CA348590881 | LCT | c.4946G>C (p.Arg1649Thr) c.3039G>C (n.3039G>C) | |
2 | g.135798059C>T | CA348590882 | LCT | c.4946G>A (p.Arg1649Lys) c.3039G>A (n.3039G>A) | gnomAD v4 |
2 | g.135798060T>A | CA348590883 | LCT | c.4945A>T (p.Arg1649Trp) c.3038A>T (n.3038A>T) | gnomAD v4 |
2 | g.135798060T>C | CA348590884 | LCT | c.4945A>G (p.Arg1649Gly) c.3038A>G (n.3038A>G) | |
2 | g.135798060T>G | CA429086167 | LCT | c.4945A>C (p.Arg1649=) c.3038A>C (n.3038A>C) | COSMIC |
2 | g.135798061G>A | CA429086168 | LCT | c.4944C>T (p.Asp1648=) c.3037C>T (n.3037C>T) | |
2 | g.135798061G>C | CA348590885 | LCT | c.4944C>G (p.Asp1648Glu) c.3037C>G (n.3037C>G) | gnomAD v4 |
2 | g.135798061G>T | CA348590886 | LCT | c.4944C>A (p.Asp1648Glu) c.3037C>A (n.3037C>A) | |
2 | g.135798062T>A | CA348590887 | LCT | c.4943A>T (p.Asp1648Val) c.3036A>T (n.3036A>T) | gnomAD v3 gnomAD v4 |
2 | g.135798062T>C | CA56602642 | LCT | c.4943A>G (p.Asp1648Gly) c.3036A>G (n.3036A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.135798062T>G | CA348590888 | LCT | c.4943A>C (p.Asp1648Ala) c.3036A>C (n.3036A>C) | |
2 | g.135798062T= | CA1290826518 | LCT | c.4943A= (p.Asp1648=) c.3036A= (n.3036A=) | |
2 | g.135798063C>A | CA348590889 | LCT | c.4942G>T (p.Asp1648Tyr) c.3035G>T (n.3035G>T) | |
2 | g.135798063C= | CA1290826519 | LCT | c.4942G= (p.Asp1648=) c.3035G= (n.3035G=) | |
2 | g.135798063C>G | CA1887732 | LCT | c.4942G>C (p.Asp1648His) c.3035G>C (n.3035G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.135798063C>T | CA348590890 | LCT | c.4942G>A (p.Asp1648Asn) c.3035G>A (n.3035G>A) | |
2 | g.135798064A>C | CA429086172 | LCT | c.4941T>G (p.Arg1647=) c.3034T>G (n.3034T>G) | |
2 | g.135798064A>G | CA429086170 | LCT | c.4941T>C (p.Arg1647=) c.3034T>C (n.3034T>C) | gnomAD v3 gnomAD v4 |
2 | g.135798064A>T | CA429086171 | LCT | c.4941T>A (p.Arg1647=) c.3034T>A (n.3034T>A) | |
2 | g.135798065C>A | CA348590891 | LCT | c.4940G>T (p.Arg1647Leu) c.3033G>T (n.3033G>T) | |
2 | g.135798065C= | CA1290826520 | LCT | c.4940G= (p.Arg1647=) c.3033G= (n.3033G=) | |
2 | g.135798065C>G | CA348590892 | LCT | c.4940G>C (p.Arg1647Pro) c.3033G>C (n.3033G>C) | |
2 | g.135798065C>T | CA1887733 | LCT | c.4940G>A (p.Arg1647His) c.3033G>A (n.3033G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.135798066G>A | CA1887734 | LCT | c.4939C>T (p.Arg1647Cys) c.3032C>T (n.3032C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.135798066G>C | CA348590894 | LCT | c.4939C>G (p.Arg1647Gly) c.3032C>G (n.3032C>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.135798066G= | CA1290826521 | LCT | c.4939C= (p.Arg1647=) c.3032C= (n.3032C=) | |
2 | g.135798066G>T | CA348590893 | LCT | c.4939C>A (p.Arg1647Ser) c.3032C>A (n.3032C>A) | gnomAD v4 |
2 | g.135798067G>A | CA429086174 | LCT | c.4938C>T (p.Ile1646=) c.3031C>T (n.3031C>T) | |
2 | g.135798067G>C | CA348590895 | LCT | c.4938C>G (p.Ile1646Met) c.3031C>G (n.3031C>G) | |
2 | g.135798067G>T | CA429086175 | LCT | c.4938C>A (p.Ile1646=) c.3031C>A (n.3031C>A) | gnomAD v4 |
2 | g.135798068A>C | CA348590896 | LCT | c.4937T>G (p.Ile1646Ser) c.3030T>G (n.3030T>G) | |
2 | g.135798068A>G | CA348590897 | LCT | c.4937T>C (p.Ile1646Thr) c.3030T>C (n.3030T>C) | |
2 | g.135798068A>T | CA348590898 | LCT | c.4937T>A (p.Ile1646Asn) c.3030T>A (n.3030T>A) | |
2 | g.135798069T>A | CA348590899 | LCT | c.4936A>T (p.Ile1646Phe) c.3029A>T (n.3029A>T) | |
2 | g.135798069T>C | CA348590900 | LCT | c.4936A>G (p.Ile1646Val) c.3029A>G (n.3029A>G) | |
2 | g.135798069T>G | CA348590901 | LCT | c.4936A>C (p.Ile1646Leu) c.3029A>C (n.3029A>C) | |
2 | g.135798069T= | CA1290826522 | LCT | c.4936A= (p.Ile1646=) c.3029A= (n.3029A=) | |
2 | g.135798070C>A | CA429086177 | LCT | c.4935G>T (p.Arg1645=) c.3028G>T (n.3028G>T) | |
2 | g.135798070C>G | CA429086178 | LCT | c.4935G>C (p.Arg1645=) c.3028G>C (n.3028G>C) | |
2 | g.135798070C>T | CA429086179 | LCT | c.4935G>A (p.Arg1645=) c.3028G>A (n.3028G>A) | |
2 | g.135798075_135798076insATTCATCACCGCGT | CA1887735 | LCT | c.4935_4936insTGATGAATACGCGG (p.Ile1646Ter) c.3028_3029insTGATGAATACGCGG (n.3028_3029insTGATGAATACGCGG) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.135798071C>A | CA348590902 | LCT | c.4934G>T (p.Arg1645Leu) c.3027G>T (n.3027G>T) | |
2 | g.135798071C= | CA1290826523 | LCT | c.4934G= (p.Arg1645=) c.3027G= (n.3027G=) | |
2 | g.135798071C>G | CA348590903 | LCT | c.4934G>C (p.Arg1645Pro) c.3027G>C (n.3027G>C) | COSMIC |
2 | g.135798071C>T | CA1887736 | LCT | c.4934G>A (p.Arg1645Gln) c.3027G>A (n.3027G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.135798072G>A | CA348590905 | LCT | c.4933C>T (p.Arg1645Trp) c.3026C>T (n.3026C>T) | gnomAD v4 |
2 | g.135798072G>C | CA348590904 | LCT | c.4933C>G (p.Arg1645Gly) c.3026C>G (n.3026C>G) | |
2 | g.135798072G>T | CA429086180 | LCT | c.4933C>A (p.Arg1645=) c.3026C>A (n.3026C>A) | gnomAD v4 |
2 | g.135798073C>A | CA429086182 | LCT | c.4932G>T (p.Thr1644=) c.3025G>T (n.3025G>T) | |
2 | g.135798073C= | CA1290826524 | LCT | c.4932G= (p.Thr1644=) c.3025G= (n.3025G=) | |
2 | g.135798073C>G | CA429086183 | LCT | c.4932G>C (p.Thr1644=) c.3025G>C (n.3025G>C) | |
2 | g.135798073C>T | CA1887737 | LCT | c.4932G>A (p.Thr1644=) c.3025G>A (n.3025G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.135798074G>A | CA56602692 | LCT | c.4931C>T (p.Thr1644Met) c.3024C>T (n.3024C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.135798074G>C | CA348590906 | LCT | c.4931C>G (p.Thr1644Arg) c.3024C>G (n.3024C>G) | |
2 | g.135798074G= | CA1290826525 | LCT | c.4931C= (p.Thr1644=) c.3024C= (n.3024C=) | |
2 | g.135798074G>T | CA348590907 | LCT | c.4931C>A (p.Thr1644Lys) c.3024C>A (n.3024C>A) | gnomAD v4 |
2 | g.135798075T>A | CA348590908 | LCT | c.4930A>T (p.Thr1644Ser) c.3023A>T (n.3023A>T) | gnomAD v4 |
2 | g.135798075T>C | CA348590909 | LCT | c.4930A>G (p.Thr1644Ala) c.3023A>G (n.3023A>G) | |
2 | g.135798075T>G | CA348590910 | LCT | c.4930A>C (p.Thr1644Pro) c.3023A>C (n.3023A>C) | |
2 | g.135798077_135798079del | CA2577107814 | LCT | c.4928_4930del (p.Lys1643del) c.3021_3023del (n.3021_3023del) | |
2 | g.135798076C>A | CA348590911 | LCT | c.4929G>T (p.Lys1643Asn) c.3022G>T (n.3022G>T) | |
2 | g.135798076C>G | CA348590912 | LCT | c.4929G>C (p.Lys1643Asn) c.3022G>C (n.3022G>C) | |
2 | g.135798076C>T | CA429086185 | LCT | c.4929G>A (p.Lys1643=) c.3022G>A (n.3022G>A) | |
2 | g.135798077T>A | CA348590913 | LCT | c.4928A>T (p.Lys1643Met) c.3021A>T (n.3021A>T) | |
2 | g.135798077T>C | CA348590914 | LCT | c.4928A>G (p.Lys1643Arg) c.3021A>G (n.3021A>G) | |
2 | g.135798077T>G | CA348590915 | LCT | c.4928A>C (p.Lys1643Thr) c.3021A>C (n.3021A>C) | |
2 | g.135798078T>A | CA348590917 | LCT | c.4927A>T (p.Lys1643Ter) c.3020A>T (n.3020A>T) | |
2 | g.135798078T>C | CA348590918 | LCT | c.4927A>G (p.Lys1643Glu) c.3020A>G (n.3020A>G) | |
2 | g.135798078T>G | CA348590916 | LCT | c.4927A>C (p.Lys1643Gln) c.3020A>C (n.3020A>C) | |
2 | g.135798079C>A | CA1887738 | LCT | c.4926G>T (p.Met1642Ile) c.3019G>T (n.3019G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.135798079C= | CA1290826526 | LCT | c.4926G= (p.Met1642=) c.3019G= (n.3019G=) | |
2 | g.135798079C>G | CA348590919 | LCT | c.4926G>C (p.Met1642Ile) c.3019G>C (n.3019G>C) | |
2 | g.135798079C>T | CA348590920 | LCT | c.4926G>A (p.Met1642Ile) c.3019G>A (n.3019G>A) | gnomAD v4 |
2 | g.135798080A>C | CA348590921 | LCT | c.4925T>G (p.Met1642Arg) c.3018T>G (n.3018T>G) | |
2 | g.135798080A>G | CA348590922 | LCT | c.4925T>C (p.Met1642Thr) c.3018T>C (n.3018T>C) | |
2 | g.135798080A>T | CA348590923 | LCT | c.4925T>A (p.Met1642Lys) c.3018T>A (n.3018T>A) | |
2 | g.135798081T>A | CA1887739 | LCT | c.4924A>T (p.Met1642Leu) c.3017A>T (n.3017A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.135798081T>C | CA348590924 | LCT | c.4924A>G (p.Met1642Val) c.3017A>G (n.3017A>G) | |
2 | g.135798081T>G | CA348590925 | LCT | c.4924A>C (p.Met1642Leu) c.3017A>C (n.3017A>C) | |
2 | g.135798081T= | CA1290826527 | LCT | c.4924A= (p.Met1642=) c.3017A= (n.3017A=) | |
2 | g.135798082C>A | CA429086190 | LCT | c.4923G>T (p.Val1641=) c.3016G>T (n.3016G>T) | |
2 | g.135798082C>G | CA429086191 | LCT | c.4923G>C (p.Val1641=) c.3016G>C (n.3016G>C) | |
2 | g.135798082C>T | CA429086192 | LCT | c.4923G>A (p.Val1641=) c.3016G>A (n.3016G>A) | |
2 | g.135798083A= | CA1290826528 | LCT | c.4922T= (p.Val1641=) c.3015T= (n.3015T=) | |
2 | g.135798083A>C | CA348590926 | LCT | c.4922T>G (p.Val1641Gly) c.3015T>G (n.3015T>G) | |
2 | g.135798083A>G | CA1887740 | LCT | c.4922T>C (p.Val1641Ala) c.3015T>C (n.3015T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.135798083A>T | CA348590927 | LCT | c.4922T>A (p.Val1641Glu) c.3015T>A (n.3015T>A) | |
2 | g.135798084C>A | CA348590929 | LCT | c.4921G>T (p.Val1641Leu) c.3014G>T (n.3014G>T) | |
2 | g.135798084C= | CA1290826529 | LCT | c.4921G= (p.Val1641=) c.3014G= (n.3014G=) | |
2 | g.135798084C>G | CA348590930 | LCT | c.4921G>C (p.Val1641Leu) c.3014G>C (n.3014G>C) | |
2 | g.135798084C>T | CA348590928 | LCT | c.4921G>A (p.Val1641Met) c.3014G>A (n.3014G>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.135798085C>A | CA348590931 | LCT | c.4920G>T (p.Glu1640Asp) c.3013G>T (n.3013G>T) | gnomAD v4 |
2 | g.135798085C>G | CA348590932 | LCT | c.4920G>C (p.Glu1640Asp) c.3013G>C (n.3013G>C) | |
2 | g.135798085C>T | CA429086193 | LCT | c.4920G>A (p.Glu1640=) c.3013G>A (n.3013G>A) | gnomAD v4 |
2 | g.135798086T>A | CA348590933 | LCT | c.4919A>T (p.Glu1640Val) c.3012A>T (p.Ter1004Cys) | gnomAD v4 |
2 | g.135798086T>C | CA348590934 | LCT | c.4919A>G (p.Glu1640Gly) c.3012A>G (p.Ter1004Trp) | |
2 | g.135798086T>G | CA348590935 | LCT | c.4919A>C (p.Glu1640Ala) c.3012A>C (p.Ter1004Cys) | |
2 | g.135798087C>A | CA348590938 | LCT | c.4918G>T (p.Glu1640Ter) c.3011G>T (p.Ter1004Leu) | |
2 | g.135798087C>G | CA348590936 | LCT | c.4918G>C (p.Glu1640Gln) c.3011G>C (p.Ter1004Ser) | |
2 | g.135798087C>T | CA348590937 | LCT | c.4918G>A (p.Glu1640Lys) c.3011G>A (p.Ter1004=) | gnomAD v4 |
2 | g.135798088A>C | CA348590939 | LCT | c.4917T>G (p.Asn1639Lys) c.3010T>G (p.Ter1004Gly) | |
2 | g.135798088A>G | CA429086197 | LCT | c.4917T>C (p.Asn1639=) c.3010T>C (p.Ter1004Arg) | |
2 | g.135798088A>T | CA348590940 | LCT | c.4917T>A (p.Asn1639Lys) c.3010T>A (p.Ter1004Arg) | |
2 | g.135798088_135798089insCG | CA2560266324 | LCT | c.4916_4917insCG (p.Glu1640ValfsTer3) c.3009_3010insCG (p.Ter1004ArgextTer?) | |
2 | g.135798089T>A | CA348590941 | LCT | c.4916A>T (p.Asn1639Ile) c.3009A>T (p.Gln1003His) | |
2 | g.135798089T>C | CA1887741 | LCT | c.4916A>G (p.Asn1639Ser) c.3009A>G (p.Gln1003=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.135798089T>G | CA348590942 | LCT | c.4916A>C (p.Asn1639Thr) c.3009A>C (p.Gln1003His) | |
2 | g.135798089T= | CA1290826530 | LCT | c.4916A= (p.Asn1639=) c.3009A= (p.Gln1003=) | |
2 | g.135798090T>A | CA348590943 | LCT | c.4915A>T (p.Asn1639Tyr) c.3008A>T (p.Gln1003Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.135798090T>C | CA348590945 | LCT | c.4915A>G (p.Asn1639Asp) c.3008A>G (p.Gln1003Arg) | COSMIC |
2 | g.135798090T>G | CA348590944 | LCT | c.4915A>C (p.Asn1639His) c.3008A>C (p.Gln1003Pro) | |
2 | g.135798090T= | CA1290826531 | LCT | c.4915A= (p.Asn1639=) c.3008A= (p.Gln1003=) | |
2 | g.135798091G>A | CA429086201 | LCT | c.4914C>T (p.Tyr1638=) c.3007C>T (p.Gln1003Ter) | gnomAD v4 |
2 | g.135798091G>C | CA348590946 | LCT | c.4914C>G (p.Tyr1638Ter) c.3007C>G (p.Gln1003Glu) | |
2 | g.135798091G>T | CA348590947 | LCT | c.4914C>A (p.Tyr1638Ter) c.3007C>A (p.Gln1003Lys) | |
2 | g.135798092T>A | CA348590948 | LCT | c.4913A>T (p.Tyr1638Phe) c.3006A>T (p.Leu1002Phe) | |
2 | g.135798092T>C | CA348590949 | LCT | c.4913A>G (p.Tyr1638Cys) c.3006A>G (p.Leu1002=) | dbSNP gnomAD v4 |
2 | g.135798092T>G | CA348590950 | LCT | c.4913A>C (p.Tyr1638Ser) c.3006A>C (p.Leu1002Phe) | |
2 | g.135798093A>C | CA348590951 | LCT | c.4912T>G (p.Tyr1638Asp) c.3005T>G (p.Leu1002Ter) | |
2 | g.135798093A>G | CA348590952 | LCT | c.4912T>C (p.Tyr1638His) c.3005T>C (p.Leu1002Ser) | |
2 | g.135798093A>T | CA348590953 | LCT | c.4912T>A (p.Tyr1638Asn) c.3005T>A (p.Leu1002Ter) | |
2 | g.135798094del | CA2661274466 | LCT | c.4912del (p.Tyr1638ThrfsTer4) c.3005del (p.Leu1002TyrfsTer?) | gnomAD v4 |
2 | g.135798094A>C | CA348590955 | LCT | c.4911T>G (p.Asp1637Glu) c.3004T>G (p.Leu1002Val) | |
2 | g.135798094A>G | CA429086204 | LCT | c.4911T>C (p.Asp1637=) c.3004T>C (p.Leu1002=) | |
2 | g.135798094A>T | CA348590954 | LCT | c.4911T>A (p.Asp1637Glu) c.3004T>A (p.Leu1002Ile) | |
2 | g.135798095T>A | CA348590956 | LCT | c.4910A>T (p.Asp1637Val) c.3003A>T (p.Arg1001Ser) | |
2 | g.135798095T>C | CA348590957 | LCT | c.4910A>G (p.Asp1637Gly) c.3003A>G (p.Arg1001=) | |
2 | g.135798095T>G | CA348590958 | LCT | c.4910A>C (p.Asp1637Ala) c.3003A>C (p.Arg1001Ser) | |
2 | g.135798096C>A | CA348590959 | LCT | c.4909G>T (p.Asp1637Tyr) c.3002G>T (p.Arg1001Ile) | |
2 | g.135798096C>G | CA348590960 | LCT | c.4909G>C (p.Asp1637His) c.3002G>C (p.Arg1001Thr) | gnomAD v4 |
2 | g.135798096C>T | CA348590961 | LCT | c.4909G>A (p.Asp1637Asn) c.3002G>A (p.Arg1001Lys) | |
2 | g.135798097T>A | CA429086206 | LCT | c.4908A>T (p.Gly1636=) c.3001A>T (p.Arg1001Ter) | |
2 | g.135798097T>C | CA429086207 | LCT | c.4908A>G (p.Gly1636=) c.3001A>G (p.Arg1001Gly) | |
2 | g.135798097T>G | CA429086208 | LCT | c.4908A>C (p.Gly1636=) c.3001A>C (p.Arg1001=) | |
2 | g.135798098C>A | CA348590964 | LCT | c.4907G>T (p.Gly1636Val) c.3000G>T (p.Trp1000Cys) | |
2 | g.135798098C>G | CA348590962 | LCT | c.4907G>C (p.Gly1636Ala) c.3000G>C (p.Trp1000Cys) | |
2 | g.135798098C>T | CA348590963 | LCT | c.4907G>A (p.Gly1636Glu) c.3000G>A (p.Trp1000Ter) | |
2 | g.135798099C>A | CA348590965 | LCT | c.4906G>T (p.Gly1636Ter) c.2999G>T (p.Trp1000Leu) | |
2 | g.135798099C>G | CA348590966 | LCT | c.4906G>C (p.Gly1636Arg) c.2999G>C (p.Trp1000Ser) | |
2 | g.135798099C>T | CA348590967 | LCT | c.4906G>A (p.Gly1636Arg) c.2999G>A (p.Trp1000Ter) | gnomAD v4 |
2 | g.135798100A= | CA1290826532 | LCT | c.4905T= (p.Asn1635=) c.2998T= (p.Trp1000=) | |
2 | g.135798100A>C | CA348590968 | LCT | c.4905T>G (p.Asn1635Lys) c.2998T>G (p.Trp1000Gly) | gnomAD v4 |
2 | g.135798100A>G | CA429086210 | LCT | c.4905T>C (p.Asn1635=) c.2998T>C (p.Trp1000Arg) | dbSNP |
2 | g.135798100A>T | CA56602751 | LCT | c.4905T>A (p.Asn1635Lys) c.2998T>A (p.Trp1000Arg) | dbSNP |
2 | g.135798101T>A | CA348590969 | LCT | c.4904A>T (p.Asn1635Ile) c.2997A>T (p.Glu999Asp) | |
2 | g.135798101T>C | CA348590970 | LCT | c.4904A>G (p.Asn1635Ser) c.2997A>G (p.Glu999=) | |
2 | g.135798101T>G | CA348590971 | LCT | c.4904A>C (p.Asn1635Thr) c.2997A>C (p.Glu999Asp) | |
2 | g.135798102T>A | CA348590972 | LCT | c.4903A>T (p.Asn1635Tyr) c.2996A>T (p.Glu999Val) | |
2 | g.135798102T>C | CA348590973 | LCT | c.4903A>G (p.Asn1635Asp) c.2996A>G (p.Glu999Gly) | |
2 | g.135798102T>G | CA348590974 | LCT | c.4903A>C (p.Asn1635His) c.2996A>C (p.Glu999Ala) | |
2 | g.135798103C>A | CA348590975 | LCT | c.4902G>T (p.Lys1634Asn) c.2995G>T (p.Glu999Ter) | |
2 | g.135798103C>G | CA348590976 | LCT | c.4902G>C (p.Lys1634Asn) c.2995G>C (p.Glu999Gln) | |
2 | g.135798103C>T | CA429086214 | LCT | c.4902G>A (p.Lys1634=) c.2995G>A (p.Glu999Lys) | ClinVar |
2 | g.135798104T>A | CA348590979 | LCT | c.4901A>T (p.Lys1634Met) c.2994A>T (p.Gln998His) | |
2 | g.135798104T>C | CA348590977 | LCT | c.4901A>G (p.Lys1634Arg) c.2994A>G (p.Gln998=) | |
2 | g.135798104T>G | CA348590978 | LCT | c.4901A>C (p.Lys1634Thr) c.2994A>C (p.Gln998His) | |
2 | g.135798105T>A | CA348590980 | LCT | c.4900A>T (p.Lys1634Ter) c.2993A>T (p.Gln998Leu) | |
2 | g.135798105T>C | CA348590981 | LCT | c.4900A>G (p.Lys1634Glu) c.2993A>G (p.Gln998Arg) | |
2 | g.135798105T>G | CA348590982 | LCT | c.4900A>C (p.Lys1634Gln) c.2993A>C (p.Gln998Pro) | |
2 | g.135798106G>A | CA429086215 | LCT | c.4899C>T (p.Phe1633=) c.2992C>T (p.Gln998Ter) | gnomAD v4 COSMIC |
2 | g.135798106G>C | CA348590983 | LCT | c.4899C>G (p.Phe1633Leu) c.2992C>G (p.Gln998Glu) | gnomAD v4 |
2 | g.135798106G>T | CA348590984 | LCT | c.4899C>A (p.Phe1633Leu) c.2992C>A (p.Gln998Lys) | |
2 | g.135798107A>C | CA348590985 | LCT | c.4898T>G (p.Phe1633Cys) c.2991T>G (p.Phe997Leu) | |
2 | g.135798107A>G | CA348590986 | LCT | c.4898T>C (p.Phe1633Ser) c.2991T>C (p.Phe997=) | |
2 | g.135798107A>T | CA348590987 | LCT | c.4898T>A (p.Phe1633Tyr) c.2991T>A (p.Phe997Leu) | |
2 | g.135798108A>C | CA348590988 | LCT | c.4897T>G (p.Phe1633Val) c.2990T>G (p.Phe997Cys) | |
2 | g.135798108A>G | CA348590990 | LCT | c.4897T>C (p.Phe1633Leu) c.2990T>C (p.Phe997Ser) | |
2 | g.135798108A>T | CA348590989 | LCT | c.4897T>A (p.Phe1633Ile) c.2990T>A (p.Phe997Tyr) | |
2 | g.135798109A>C | CA348590991 | LCT | c.4896T>G (p.Ile1632Met) c.2989T>G (p.Phe997Val) | |
2 | g.135798109A>G | CA429086220 | LCT | c.4896T>C (p.Ile1632=) c.2989T>C (p.Phe997Leu) | |
2 | g.135798109A>T | CA429086219 | LCT | c.4896T>A (p.Ile1632=) c.2989T>A (p.Phe997Ile) | |
2 | g.135798110A>C | CA348590992 | LCT | c.4895T>G (p.Ile1632Ser) c.2988T>G (p.Tyr996Ter) | |
2 | g.135798110A>G | CA348590993 | LCT | c.4895T>C (p.Ile1632Thr) c.2988T>C (p.Tyr996=) | |
2 | g.135798110A>T | CA348590994 | LCT | c.4895T>A (p.Ile1632Asn) c.2988T>A (p.Tyr996Ter) | |
2 | g.135798111T>A | CA348590995 | LCT | c.4894A>T (p.Ile1632Phe) c.2987A>T (p.Tyr996Phe) | |
2 | g.135798111T>C | CA1887742 | LCT | c.4894A>G (p.Ile1632Val) c.2987A>G (p.Tyr996Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.135798111T>G | CA348590996 | LCT | c.4894A>C (p.Ile1632Leu) c.2987A>C (p.Tyr996Ser) | |
2 | g.135798111T= | CA1290826533 | LCT | c.4894A= (p.Ile1632=) c.2987A= (p.Tyr996=) | |
2 | g.135798112A>C | CA429086223 | LCT | c.4893T>G (p.Pro1631=) c.2986T>G (p.Tyr996Asp) | |
2 | g.135798112A>G | CA429086224 | LCT | c.4893T>C (p.Pro1631=) c.2986T>C (p.Tyr996His) | |
2 | g.135798112A>T | CA429086225 | LCT | c.4893T>A (p.Pro1631=) c.2986T>A (p.Tyr996Asn) | |
2 | g.135798113G>A | CA348590997 | LCT | c.4892C>T (p.Pro1631Leu) c.2985C>T (p.Ser995=) | |
2 | g.135798113G>C | CA348590998 | LCT | c.4892C>G (p.Pro1631Arg) c.2985C>G (p.Ser995=) | |
2 | g.135798113G>T | CA348590999 | LCT | c.4892C>A (p.Pro1631His) c.2985C>A (p.Ser995=) | gnomAD v4 |
2 | g.135798114G>A | CA348591001 | LCT | c.4891C>T (p.Pro1631Ser) c.2984C>T (p.Ser995Phe) | |
2 | g.135798114G>C | CA348591002 | LCT | c.4891C>G (p.Pro1631Ala) c.2984C>G (p.Ser995Cys) | |
2 | g.135798114G>T | CA348591003 | LCT | c.4891C>A (p.Pro1631Thr) c.2984C>A (p.Ser995Tyr) | |
2 | g.135798115A>C | CA348591004 | LCT | c.4890T>G (p.His1630Gln) c.2983T>G (p.Ser995Ala) | |
2 | g.135798115A>G | CA429086226 | LCT | c.4890T>C (p.His1630=) c.2983T>C (p.Ser995Pro) | |
2 | g.135798115A>T | CA348591005 | LCT | c.4890T>A (p.His1630Gln) c.2983T>A (p.Ser995Thr) | |
2 | g.135798116T>A | CA348591006 | LCT | c.4889A>T (p.His1630Leu) c.2982A>T (p.Thr994=) | |
2 | g.135798116T>C | CA348591007 | LCT | c.4889A>G (p.His1630Arg) c.2982A>G (p.Thr994=) | |
2 | g.135798116T>G | CA348591008 | LCT | c.4889A>C (p.His1630Pro) c.2982A>C (p.Thr994=) |