Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.54446176G>A | CA413357815 | FGD1,TSR2 | c.2819C>T (p.Ala940Val) c.*1626G>A (n.*1626G>A) | |
X | g.54446176G>C | CA413357813 | FGD1,TSR2 | c.2819C>G (p.Ala940Gly) c.*1626G>C (n.*1626G>C) | |
X | g.54446176G>T | CA413357814 | FGD1,TSR2 | c.2819C>A (p.Ala940Glu) c.*1626G>T (n.*1626G>T) | |
X | g.54446177C>A | CA413357816 | FGD1,TSR2 | c.2818G>T (p.Ala940Ser) c.*1627C>A (n.*1627C>A) | |
X | g.54446177C>G | CA413357817 | FGD1,TSR2 | c.2818G>C (p.Ala940Pro) c.*1627C>G (n.*1627C>G) | |
X | g.54446177C>T | CA413357818 | FGD1,TSR2 | c.2818G>A (p.Ala940Thr) c.*1627C>T (n.*1627C>T) | |
X | g.54446178C>A | CA413357819 | FGD1,TSR2 | c.2817G>T (p.Glu939Asp) c.*1628C>A (n.*1628C>A) | |
X | g.54446178C= | CA2430182803 | FGD1,TSR2 | c.2817G= (p.Glu939=) c.*1628C= (n.*1628C=) | |
X | g.54446178C>G | CA413357820 | FGD1,TSR2 | c.2817G>C (p.Glu939Asp) c.*1628C>G (n.*1628C>G) | |
X | g.54446178C>T | CA516697885 | FGD1,TSR2 | c.2817G>A (p.Glu939=) c.*1628C>T (n.*1628C>T) | dbSNP |
X | g.54446179T>A | CA413357821 | FGD1,TSR2 | c.2816A>T (p.Glu939Val) c.*1629T>A (n.*1629T>A) | |
X | g.54446179T>C | CA413357822 | FGD1,TSR2 | c.2816A>G (p.Glu939Gly) c.*1629T>C (n.*1629T>C) | gnomAD v4 |
X | g.54446179T>G | CA10424890 | FGD1,TSR2 | c.2816A>C (p.Glu939Ala) c.*1629T>G (n.*1629T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.54446179T= | CA2430182804 | FGD1,TSR2 | c.2816A= (p.Glu939=) c.*1629T= (n.*1629T=) | |
X | g.54446180C>A | CA413357823 | FGD1,TSR2 | c.2815G>T (p.Glu939Ter) c.*1630C>A (n.*1630C>A) | dbSNP |
X | g.54446180C= | CA2430182805 | FGD1,TSR2 | c.2815G= (p.Glu939=) c.*1630C= (n.*1630C=) | |
X | g.54446180C>G | CA413357824 | FGD1,TSR2 | c.2815G>C (p.Glu939Gln) c.*1630C>G (n.*1630C>G) | |
X | g.54446180C>T | CA413357825 | FGD1,TSR2 | c.2815G>A (p.Glu939Lys) c.*1630C>T (n.*1630C>T) | |
X | g.54446181C>A | CA413357826 | FGD1,TSR2 | c.2814G>T (p.Glu938Asp) c.*1631C>A (n.*1631C>A) | gnomAD v4 |
X | g.54446181C= | CA2430182806 | FGD1,TSR2 | c.2814G= (p.Glu938=) c.*1631C= (n.*1631C=) | |
X | g.54446181C>G | CA413357827 | FGD1,TSR2 | c.2814G>C (p.Glu938Asp) c.*1631C>G (n.*1631C>G) | |
X | g.54446181C>T | CA516697887 | FGD1,TSR2 | c.2814G>A (p.Glu938=) c.*1631C>T (n.*1631C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.54446182T>A | CA413357828 | FGD1,TSR2 | c.2813A>T (p.Glu938Val) c.*1632T>A (n.*1632T>A) | |
X | g.54446182T>C | CA413357829 | FGD1,TSR2 | c.2813A>G (p.Glu938Gly) c.*1632T>C (n.*1632T>C) | |
X | g.54446182T>G | CA413357830 | FGD1,TSR2 | c.2813A>C (p.Glu938Ala) c.*1632T>G (n.*1632T>G) | |
X | g.54446183C>A | CA10424891 | FGD1,TSR2 | c.2812G>T (p.Glu938Ter) c.*1633C>A (n.*1633C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.54446183C= | CA2430182807 | FGD1,TSR2 | c.2812G= (p.Glu938=) c.*1633C= (n.*1633C=) | |
X | g.54446183C>G | CA413357831 | FGD1,TSR2 | c.2812G>C (p.Glu938Gln) c.*1633C>G (n.*1633C>G) | |
X | g.54446183C>T | CA413357832 | FGD1,TSR2 | c.2812G>A (p.Glu938Lys) c.*1633C>T (n.*1633C>T) | |
X | g.54446184dup | CA2693843677 | FGD1,TSR2 | c.2812dup (p.Glu938GlyfsTer13) c.*1634dup (n.*1634dup) | gnomAD v4 |
X | g.54446184C>A | CA413357833 | FGD1,TSR2 | c.2811G>T (p.Met937Ile) c.*1634C>A (n.*1634C>A) | dbSNP gnomAD v2 gnomAD v4 |
X | g.54446184C= | CA2430182808 | FGD1,TSR2 | c.2811G= (p.Met937=) c.*1634C= (n.*1634C=) | |
X | g.54446184C>G | CA413357834 | FGD1,TSR2 | c.2811G>C (p.Met937Ile) c.*1634C>G (n.*1634C>G) | |
X | g.54446184C>T | CA10424892 | FGD1,TSR2 | c.2811G>A (p.Met937Ile) c.*1634C>T (n.*1634C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.54446185A= | CA2430182809 | FGD1,TSR2 | c.2810T= (p.Met937=) c.*1635A= (n.*1635A=) | |
X | g.54446185A>C | CA413357835 | FGD1,TSR2 | c.2810T>G (p.Met937Arg) c.*1635A>C (n.*1635A>C) | |
X | g.54446185A>G | CA10424893 | FGD1,TSR2 | c.2810T>C (p.Met937Thr) c.*1635A>G (n.*1635A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.54446185A>T | CA413357836 | FGD1,TSR2 | c.2810T>A (p.Met937Lys) c.*1635A>T (n.*1635A>T) | |
X | g.54446186T>A | CA413357837 | FGD1,TSR2 | c.2809A>T (p.Met937Leu) c.*1636T>A (n.*1636T>A) | |
X | g.54446186T>C | CA413357838 | FGD1,TSR2 | c.2809A>G (p.Met937Val) c.*1636T>C (n.*1636T>C) | |
X | g.54446186T>G | CA413357839 | FGD1,TSR2 | c.2809A>C (p.Met937Leu) c.*1636T>G (n.*1636T>G) | |
X | g.54446187C>A | CA413357840 | FGD1,TSR2 | c.2808G>T (p.Glu936Asp) c.*1637C>A (n.*1637C>A) | |
X | g.54446187C>G | CA413357841 | FGD1,TSR2 | c.2808G>C (p.Glu936Asp) c.*1637C>G (n.*1637C>G) | |
X | g.54446187C>T | CA516697889 | FGD1,TSR2 | c.2808G>A (p.Glu936=) c.*1637C>T (n.*1637C>T) | |
X | g.54446188T>A | CA413357842 | FGD1,TSR2 | c.2807A>T (p.Glu936Val) c.*1638T>A (n.*1638T>A) | |
X | g.54446188T>C | CA413357844 | FGD1,TSR2 | c.2807A>G (p.Glu936Gly) c.*1638T>C (n.*1638T>C) | |
X | g.54446188T>G | CA413357843 | FGD1,TSR2 | c.2807A>C (p.Glu936Ala) c.*1638T>G (n.*1638T>G) | |
X | g.54446189C>A | CA413357845 | FGD1,TSR2 | c.2806G>T (p.Glu936Ter) c.*1639C>A (n.*1639C>A) | |
X | g.54446189C>G | CA413357846 | FGD1,TSR2 | c.2806G>C (p.Glu936Gln) c.*1639C>G (n.*1639C>G) | |
X | g.54446189C>T | CA413357847 | FGD1,TSR2 | c.2806G>A (p.Glu936Lys) c.*1639C>T (n.*1639C>T) |