Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.41758470G>A | CA308541 | JUP | c.1702C>T (p.His568Tyr) n.300C>T c.1753C>T (p.His585Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.41758470G>C | CA399493043 | JUP | c.1702C>G (p.His568Asp) n.300C>G c.1753C>G (p.His585Asp) | |
17 | g.41758470G= | CA2260170813 | JUP | c.1702C= (p.His568=) n.300C= c.1753C= (p.His585=) | |
17 | g.41758470G>T | CA399493045 | JUP | c.1702C>A (p.His568Asn) n.300C>A c.1753C>A (p.His585Asn) | |
17 | g.41758471C>A | CA500022955 | JUP | c.1701G>T (p.Leu567=) n.299G>T c.1752G>T (p.Leu584=) | |
17 | g.41758471C>G | CA500022956 | JUP | c.1701G>C (p.Leu567=) n.299G>C c.1752G>C (p.Leu584=) | |
17 | g.41758471C>T | CA500022957 | JUP | c.1701G>A (p.Leu567=) n.299G>A c.1752G>A (p.Leu584=) | |
17 | g.41758472A>C | CA399493048 | JUP | c.1700T>G (p.Leu567Arg) n.298T>G c.1751T>G (p.Leu584Arg) | |
17 | g.41758472A>G | CA399493050 | JUP | c.1700T>C (p.Leu567Pro) n.298T>C c.1751T>C (p.Leu584Pro) | |
17 | g.41758472A>T | CA399493053 | JUP | c.1700T>A (p.Leu567Gln) n.298T>A c.1751T>A (p.Leu584Gln) | |
17 | g.41758473G>A | CA500022960 | JUP | c.1699C>T (p.Leu567=) n.297C>T c.1750C>T (p.Leu584=) | gnomAD v4 |
17 | g.41758473G>C | CA399493056 | JUP | c.1699C>G (p.Leu567Val) n.297C>G c.1750C>G (p.Leu584Val) | |
17 | g.41758473G>T | CA399493059 | JUP | c.1699C>A (p.Leu567Met) n.297C>A c.1750C>A (p.Leu584Met) | |
17 | g.41758474T>A | CA500022962 | JUP | c.1698A>T (p.Ala566=) n.296A>T c.1749A>T (p.Ala583=) | |
17 | g.41758474T>C | CA500022963 | JUP | c.1698A>G (p.Ala566=) n.296A>G c.1749A>G (p.Ala583=) | dbSNP gnomAD v4 |
17 | g.41758474T>G | CA500022964 | JUP | c.1698A>C (p.Ala566=) n.296A>C c.1749A>C (p.Ala583=) | |
17 | g.41758474T= | CA2260170814 | JUP | c.1698A= (p.Ala566=) n.296A= c.1749A= (p.Ala583=) | |
17 | g.41758475G>A | CA399493061 | JUP | c.1697C>T (p.Ala566Val) n.295C>T c.1748C>T (p.Ala583Val) | |
17 | g.41758475G>C | CA399493063 | JUP | c.1697C>G (p.Ala566Gly) n.295C>G c.1748C>G (p.Ala583Gly) | ClinVar gnomAD v4 |
17 | g.41758475G>T | CA399493066 | JUP | c.1697C>A (p.Ala566Glu) n.295C>A c.1748C>A (p.Ala583Glu) | |
17 | g.41758476C>A | CA399493068 | JUP | c.1696G>T (p.Ala566Ser) n.294G>T c.1747G>T (p.Ala583Ser) | |
17 | g.41758476C= | CA2260170815 | JUP | c.1696G= (p.Ala566=) n.294G= c.1747G= (p.Ala583=) | |
17 | g.41758476C>G | CA399493070 | JUP | c.1696G>C (p.Ala566Pro) n.294G>C c.1747G>C (p.Ala583Pro) | |
17 | g.41758476C>T | CA183904 | JUP | c.1696G>A (p.Ala566Thr) n.294G>A c.1747G>A (p.Ala583Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.41758477T>A | CA500022967 | JUP | c.1695A>T (p.Gly565=) n.293A>T c.1746A>T (p.Gly582=) | |
17 | g.41758477T>C | CA500022965 | JUP | c.1695A>G (p.Gly565=) n.293A>G c.1746A>G (p.Gly582=) | ClinVar |
17 | g.41758477T>G | CA500022966 | JUP | c.1695A>C (p.Gly565=) n.293A>C c.1746A>C (p.Gly582=) | |
17 | g.41758478C>A | CA399493078 | JUP | c.1694G>T (p.Gly565Val) n.292G>T c.1745G>T (p.Gly582Val) | |
17 | g.41758478C>G | CA399493081 | JUP | c.1694G>C (p.Gly565Ala) n.292G>C c.1745G>C (p.Gly582Ala) | ClinVar |
17 | g.41758478C>T | CA399493076 | JUP | c.1694G>A (p.Gly565Glu) n.292G>A c.1745G>A (p.Gly582Glu) | |
17 | g.41758479C>A | CA399493084 | JUP | c.1693G>T (p.Gly565Ter) n.291G>T c.1744G>T (p.Gly582Ter) | |
17 | g.41758479C= | CA2260170816 | JUP | c.1693G= (p.Gly565=) n.291G= c.1744G= (p.Gly582=) | |
17 | g.41758479C>G | CA399493087 | JUP | c.1693G>C (p.Gly565Arg) n.291G>C c.1744G>C (p.Gly582Arg) | |
17 | g.41758479C>T | CA290696076 | JUP | c.1693G>A (p.Gly565Arg) n.291G>A c.1744G>A (p.Gly582Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.41758480G>A | CA8565149 | JUP | c.1692C>T (p.Thr564=) n.290C>T c.1743C>T (p.Thr581=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.41758480G>C | CA500022970 | JUP | c.1692C>G (p.Thr564=) n.290C>G c.1743C>G (p.Thr581=) | ClinVar |
17 | g.41758480G= | CA2260170817 | JUP | c.1692C= (p.Thr564=) n.290C= c.1743C= (p.Thr581=) | |
17 | g.41758480G>T | CA8565150 | JUP | c.1692C>A (p.Thr564=) n.290C>A c.1743C>A (p.Thr581=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.41758481G>A | CA399493108 | JUP | c.1691C>T (p.Thr564Ile) n.289C>T c.1742C>T (p.Thr581Ile) | |
17 | g.41758481G>C | CA399493111 | JUP | c.1691C>G (p.Thr564Ser) n.289C>G c.1742C>G (p.Thr581Ser) | dbSNP |
17 | g.41758481G= | CA2260170818 | JUP | c.1691C= (p.Thr564=) n.289C= c.1742C= (p.Thr581=) | |
17 | g.41758481G>T | CA399493114 | JUP | c.1691C>A (p.Thr564Asn) n.289C>A c.1742C>A (p.Thr581Asn) | |
17 | g.41758482T>A | CA399493116 | JUP | c.1690A>T (p.Thr564Ser) n.288A>T c.1741A>T (p.Thr581Ser) | |
17 | g.41758482T>C | CA399493119 | JUP | c.1690A>G (p.Thr564Ala) n.288A>G c.1741A>G (p.Thr581Ala) | gnomAD v4 |
17 | g.41758482T>G | CA399493121 | JUP | c.1690A>C (p.Thr564Pro) n.288A>C c.1741A>C (p.Thr581Pro) | |
17 | g.41758483G>A | CA500022973 | JUP | c.1689C>T (p.Cys563=) n.287C>T c.1740C>T (p.Cys580=) | gnomAD v4 |
17 | g.41758483G>C | CA399493124 | JUP | c.1689C>G (p.Cys563Trp) n.287C>G c.1740C>G (p.Cys580Trp) | |
17 | g.41758483G= | CA2260170819 | JUP | c.1689C= (p.Cys563=) n.287C= c.1740C= (p.Cys580=) | |
17 | g.41758483G>T | CA399493127 | JUP | c.1689C>A (p.Cys563Ter) n.287C>A c.1740C>A (p.Cys580Ter) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.41758484C>A | CA399493133 | JUP | c.1688G>T (p.Cys563Phe) n.286G>T c.1739G>T (p.Cys580Phe) |