Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.135798028_135798038delinsCCGAGACTTGT | CA1290826505 | LCT | c.4967_4976+1delinsACAAGTCTCGG c.3060_3069+1delinsACAAGTCTCGG | |
2 | g.135798029_135798038del | CA1290826506 | LCT | c.4967_4976del (p.Asn1656SerfsTer?) c.3060_3069del (n.3060_3069del) | ClinVar dbSNP gnomAD v4 |
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) |