Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.126510712A= | CA1399821803 | UROC1 | c.209T= (p.Leu70=) | |
3 | g.126510712A>C | CA354338983 | UROC1 | c.209T>G (p.Leu70Arg) | |
3 | g.126510712A>G | CA114250 | UROC1 | c.209T>C (p.Leu70Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.126510712A>T | CA354338982 | UROC1 | c.209T>A (p.Leu70Gln) | |
3 | g.126510713G>A | CA435503908 | UROC1 | c.208C>T (p.Leu70=) | gnomAD v4 |
3 | g.126510713G>C | CA354338984 | UROC1 | c.208C>G (p.Leu70Val) | |
3 | g.126510713G>T | CA354338985 | UROC1 | c.208C>A (p.Leu70Met) | |
3 | g.126510714T>A | CA354338986 | UROC1 | c.207A>T (p.Gln69His) | |
3 | g.126510714T>C | CA2591650 | UROC1 | c.207A>G (p.Gln69=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.126510714T>G | CA354338987 | UROC1 | c.207A>C (p.Gln69His) | |
3 | g.126510714T= | CA1399821804 | UROC1 | c.207A= (p.Gln69=) | |
3 | g.126510715T>A | CA354338990 | UROC1 | c.206A>T (p.Gln69Leu) | |
3 | g.126510715T>C | CA354338989 | UROC1 | c.206A>G (p.Gln69Arg) | |
3 | g.126510715T>G | CA354338988 | UROC1 | c.206A>C (p.Gln69Pro) | |
3 | g.126510716G>A | CA354338991 | UROC1 | c.205C>T (p.Gln69Ter) | |
3 | g.126510716G>C | CA354338992 | UROC1 | c.205C>G (p.Gln69Glu) | |
3 | g.126510716G>T | CA354338993 | UROC1 | c.205C>A (p.Gln69Lys) | |
3 | g.126510727_126510753dup | CA2667453104 | UROC1 | c.179_205dup (p.Leu68_Gln69insLeuAlaProGluPheAlaGlnGluLeu) | gnomAD v4 |
3 | g.126510717C>A | CA2591651 | UROC1 | c.204G>T (p.Leu68=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.126510717C= | CA1399821805 | UROC1 | c.204G= (p.Leu68=) | |
3 | g.126510717C>G | CA435503919 | UROC1 | c.204G>C (p.Leu68=) | |
3 | g.126510717C>T | CA435503921 | UROC1 | c.204G>A (p.Leu68=) | |
3 | g.126510718A>C | CA354338994 | UROC1 | c.203T>G (p.Leu68Arg) | |
3 | g.126510718A>G | CA354338995 | UROC1 | c.203T>C (p.Leu68Pro) | |
3 | g.126510718A>T | CA354338996 | UROC1 | c.203T>A (p.Leu68Gln) | |
3 | g.126510719G>A | CA435503926 | UROC1 | c.202C>T (p.Leu68=) | |
3 | g.126510719G>C | CA354338997 | UROC1 | c.202C>G (p.Leu68Val) | |
3 | g.126510719G>T | CA354338998 | UROC1 | c.202C>A (p.Leu68Met) | |
3 | g.126510720C>A | CA354338999 | UROC1 | c.201G>T (p.Glu67Asp) | |
3 | g.126510720C>G | CA354339000 | UROC1 | c.201G>C (p.Glu67Asp) | gnomAD v4 |
3 | g.126510720C>T | CA435503931 | UROC1 | c.201G>A (p.Glu67=) | |
3 | g.126510721T>A | CA354339001 | UROC1 | c.200A>T (p.Glu67Val) | |
3 | g.126510721T>C | CA2591652 | UROC1 | c.200A>G (p.Glu67Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.126510721T>G | CA354339002 | UROC1 | c.200A>C (p.Glu67Ala) | |
3 | g.126510721T= | CA1399821806 | UROC1 | c.200A= (p.Glu67=) | |
3 | g.126510722C>A | CA354339003 | UROC1 | c.199G>T (p.Glu67Ter) | gnomAD v4 |
3 | g.126510722C= | CA1399821807 | UROC1 | c.199G= (p.Glu67=) | |
3 | g.126510722C>G | CA354339004 | UROC1 | c.199G>C (p.Glu67Gln) | gnomAD v4 |
3 | g.126510722C>T | CA354339005 | UROC1 | c.199G>A (p.Glu67Lys) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.126510723C>A | CA354339006 | UROC1 | c.198G>T (p.Gln66His) | |
3 | g.126510723C>G | CA354339007 | UROC1 | c.198G>C (p.Gln66His) | gnomAD v4 |
3 | g.126510723C>T | CA435503936 | UROC1 | c.198G>A (p.Gln66=) | |
3 | g.126510724T>A | CA354339008 | UROC1 | c.197A>T (p.Gln66Leu) | |
3 | g.126510724T>C | CA354339009 | UROC1 | c.197A>G (p.Gln66Arg) | gnomAD v4 |
3 | g.126510724T>G | CA354339010 | UROC1 | c.197A>C (p.Gln66Pro) | |
3 | g.126510725G>A | CA2591653 | UROC1 | c.196C>T (p.Gln66Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.126510725G>C | CA354339011 | UROC1 | c.196C>G (p.Gln66Glu) | |
3 | g.126510725G= | CA1399821808 | UROC1 | c.196C= (p.Gln66=) | |
3 | g.126510725G>T | CA354339012 | UROC1 | c.196C>A (p.Gln66Lys) | |
3 | g.126510726G>A | CA435503943 | UROC1 | c.195C>T (p.Ala65=) | gnomAD v4 |