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.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) |