Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.54495257_54495258delinsTG | CA2430198393 | FGD1 | c.175_176delinsCA (p.Gln59=) | |
X | g.54495258G>A | CA200463 | FGD1 | c.175C>T (p.Gln59Ter) | ClinVar dbSNP gnomAD v4 |
X | g.54495258G>C | CA413254754 | FGD1 | c.175C>G (p.Gln59Glu) | |
X | g.54495258G= | CA2430198394 | FGD1 | c.175C= (p.Gln59=) | |
X | g.54495258G>T | CA413254755 | FGD1 | c.175C>A (p.Gln59Lys) | gnomAD v4 |
X | g.54495261del | CA641393784 | FGD1 | c.175del (p.Gln59SerfsTer?) | dbSNP gnomAD v2 |
X | g.54495259G>A | CA516574731 | FGD1 | c.174C>T (p.Pro58=) | dbSNP gnomAD v2 |
X | g.54495259G>C | CA516574732 | FGD1 | c.174C>G (p.Pro58=) | |
X | g.54495259G= | CA2430198395 | FGD1 | c.174C= (p.Pro58=) | |
X | g.54495259G>T | CA516574733 | FGD1 | c.174C>A (p.Pro58=) | gnomAD v4 |
X | g.54495260G>A | CA413254756 | FGD1 | c.173C>T (p.Pro58Leu) | gnomAD v4 |
X | g.54495260G>C | CA413254760 | FGD1 | c.173C>G (p.Pro58Arg) | |
X | g.54495260G>T | CA413254758 | FGD1 | c.173C>A (p.Pro58His) | gnomAD v4 |
X | g.54495261G>A | CA413254761 | FGD1 | c.172C>T (p.Pro58Ser) | |
X | g.54495261G>C | CA413254762 | FGD1 | c.172C>G (p.Pro58Ala) | |
X | g.54495261G>T | CA413254764 | FGD1 | c.172C>A (p.Pro58Thr) | gnomAD v4 |
X | g.54495262A>C | CA413254766 | FGD1 | c.171T>G (p.Asp57Glu) | |
X | g.54495262A>G | CA516574734 | FGD1 | c.171T>C (p.Asp57=) | |
X | g.54495262A>T | CA413254768 | FGD1 | c.171T>A (p.Asp57Glu) | |
X | g.54495263T>A | CA413254769 | FGD1 | c.170A>T (p.Asp57Val) | |
X | g.54495263T>C | CA413254770 | FGD1 | c.170A>G (p.Asp57Gly) | |
X | g.54495263T>G | CA413254772 | FGD1 | c.170A>C (p.Asp57Ala) | |
X | g.54495264C>A | CA413254774 | FGD1 | c.169G>T (p.Asp57Tyr) | gnomAD v4 |
X | g.54495264C>G | CA413254776 | FGD1 | c.169G>C (p.Asp57His) | |
X | g.54495264C>T | CA413254777 | FGD1 | c.169G>A (p.Asp57Asn) | gnomAD v4 |
X | g.54495265C>A | CA516574735 | FGD1 | c.168G>T (p.Leu56=) | gnomAD v4 |
X | g.54495265C>G | CA516574736 | FGD1 | c.168G>C (p.Leu56=) | |
X | g.54495265C>T | CA516574737 | FGD1 | c.168G>A (p.Leu56=) | gnomAD v4 |
X | g.54495266A>C | CA413254779 | FGD1 | c.167T>G (p.Leu56Arg) | |
X | g.54495266A>G | CA413254783 | FGD1 | c.167T>C (p.Leu56Pro) | |
X | g.54495266A>T | CA413254781 | FGD1 | c.167T>A (p.Leu56Gln) | gnomAD v4 |
X | g.54495267G>A | CA516574738 | FGD1 | c.166C>T (p.Leu56=) | gnomAD v4 |
X | g.54495267G>C | CA413254784 | FGD1 | c.166C>G (p.Leu56Val) | |
X | g.54495267G>T | CA413254785 | FGD1 | c.166C>A (p.Leu56Met) | gnomAD v4 |
X | g.54495268T>A | CA516574739 | FGD1 | c.165A>T (p.Pro55=) | |
X | g.54495268T>C | CA516574740 | FGD1 | c.165A>G (p.Pro55=) | gnomAD v4 |
X | g.54495268T>G | CA516574741 | FGD1 | c.165A>C (p.Pro55=) | |
X | g.54495269G>A | CA413254788 | FGD1 | c.164C>T (p.Pro55Leu) | |
X | g.54495269G>C | CA413254791 | FGD1 | c.164C>G (p.Pro55Arg) | |
X | g.54495269G>T | CA413254789 | FGD1 | c.164C>A (p.Pro55Gln) | gnomAD v4 |
X | g.54495270G>A | CA413254792 | FGD1 | c.163C>T (p.Pro55Ser) | |
X | g.54495270G>C | CA413254794 | FGD1 | c.163C>G (p.Pro55Ala) | |
X | g.54495270G>T | CA413254796 | FGD1 | c.163C>A (p.Pro55Thr) | gnomAD v4 |
X | g.54495270_54495273delinsGGCC | CA2430198396 | FGD1 | c.160_163delinsGGCC (p.Gly54=) | |
X | g.54495271G>A | CA516574744 | FGD1 | c.162C>T (p.Gly54=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.54495271G>C | CA516574742 | FGD1 | c.162C>G (p.Gly54=) | |
X | g.54495271G= | CA2430198398 | FGD1 | c.162C= (p.Gly54=) | |
X | g.54495271G>T | CA516574743 | FGD1 | c.162C>A (p.Gly54=) | gnomAD v4 |
X | g.54495274_54495276del | CA2430198397 | FGD1 | c.160_162del (p.Gly54del) | dbSNP |
X | g.54495272C>A | CA413254798 | FGD1 | c.161G>T (p.Gly54Val) | gnomAD v4 |