Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) |