Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.123428020G>A | CA16608259 | GRIA3 | c.1957G>A (p.Ala653Thr) n.5217+9230C>T | ClinVar dbSNP |
X | g.123428020G>C | CA414259828 | GRIA3 | c.1957G>C (p.Ala653Pro) n.5217+9230C>G | |
X | g.123428020G= | CA2455894171 | GRIA3 | c.1957G= (p.Ala653=) n.5217+9230C= | |
X | g.123428020G>T | CA414259829 | GRIA3 | c.1957G>T (p.Ala653Ser) n.5217+9230C>A | ClinVar |
X | g.123428021C>A | CA414259830 | GRIA3 | c.1958C>A (p.Ala653Asp) n.5217+9229G>T | |
X | g.123428021C>G | CA414259831 | GRIA3 | c.1958C>G (p.Ala653Gly) n.5217+9229G>C | |
X | g.123428021C>T | CA414259832 | GRIA3 | c.1958C>T (p.Ala653Val) n.5217+9229G>A | |
X | g.123428022T>A | CA518167870 | GRIA3 | c.1959T>A (p.Ala653=) n.5217+9228A>T | |
X | g.123428022T>C | CA518167872 | GRIA3 | c.1959T>C (p.Ala653=) n.5217+9228A>G | |
X | g.123428022T>G | CA518167874 | GRIA3 | c.1959T>G (p.Ala653=) n.5217+9228A>C | gnomAD v4 |
X | g.123428023G>A | CA414259833 | GRIA3 | c.1960G>A (p.Ala654Thr) n.5217+9227C>T | |
X | g.123428023G>C | CA414259834 | GRIA3 | c.1960G>C (p.Ala654Pro) n.5217+9227C>G | |
X | g.123428023G>T | CA414259835 | GRIA3 | c.1960G>T (p.Ala654Ser) n.5217+9227C>A | |
X | g.123428024C>A | CA414259836 | GRIA3 | c.1961C>A (p.Ala654Asp) n.5217+9226G>T | |
X | g.123428024C>G | CA414259837 | GRIA3 | c.1961C>G (p.Ala654Gly) n.5217+9226G>C | |
X | g.123428024C>T | CA414259838 | GRIA3 | c.1961C>T (p.Ala654Val) n.5217+9226G>A | ClinVar |
X | g.123428025T>A | CA518167878 | GRIA3 | c.1962T>A (p.Ala654=) n.5217+9225A>T | |
X | g.123428025T>C | CA518167880 | GRIA3 | c.1962T>C (p.Ala654=) n.5217+9225A>G | |
X | g.123428025T>G | CA518167881 | GRIA3 | c.1962T>G (p.Ala654=) n.5217+9225A>C | |
X | g.123428026T>A | CA414259841 | GRIA3 | c.1963T>A (p.Phe655Ile) n.5217+9224A>T | |
X | g.123428026T>C | CA414259840 | GRIA3 | c.1963T>C (p.Phe655Leu) n.5217+9224A>G | gnomAD v4 |
X | g.123428026T>G | CA414259839 | GRIA3 | c.1963T>G (p.Phe655Val) n.5217+9224A>C | |
X | g.123428027T>A | CA414259842 | GRIA3 | c.1964T>A (p.Phe655Tyr) n.5217+9223A>T | |
X | g.123428027T>C | CA414259845 | GRIA3 | c.1964T>C (p.Phe655Ser) n.5217+9223A>G | ClinVar dbSNP |
X | g.123428027T>G | CA414259844 | GRIA3 | c.1964T>G (p.Phe655Cys) n.5217+9223A>C | |
X | g.123428027T= | CA2455894172 | GRIA3 | c.1964T= (p.Phe655=) n.5217+9223A= | |
X | g.123428028C>A | CA414259848 | GRIA3 | c.1965C>A (p.Phe655Leu) n.5217+9222G>T | gnomAD v4 |
X | g.123428028C= | CA2455894173 | GRIA3 | c.1965C= (p.Phe655=) n.5217+9222G= | |
X | g.123428028C>G | CA414259850 | GRIA3 | c.1965C>G (p.Phe655Leu) n.5217+9222G>C | |
X | g.123428028C>T | CA10507126 | GRIA3 | c.1965C>T (p.Phe655=) n.5217+9222G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.123428029C>A | CA414259852 | GRIA3 | c.1966C>A (p.Leu656Met) n.5217+9221G>T | |
X | g.123428029C>G | CA414259854 | GRIA3 | c.1966C>G (p.Leu656Val) n.5217+9221G>C | |
X | g.123428029C>T | CA518167884 | GRIA3 | c.1966C>T (p.Leu656=) n.5217+9221G>A | |
X | g.123428030T>A | CA414259857 | GRIA3 | c.1967T>A (p.Leu656Gln) n.5217+9220A>T | |
X | g.123428030T>C | CA414259860 | GRIA3 | c.1967T>C (p.Leu656Pro) n.5217+9220A>G | gnomAD v4 |
X | g.123428030T>G | CA414259859 | GRIA3 | c.1967T>G (p.Leu656Arg) n.5217+9220A>C | |
X | g.123428031G>A | CA518167886 | GRIA3 | c.1968G>A (p.Leu656=) n.5217+9219C>T | gnomAD v4 |
X | g.123428031G>C | CA518167887 | GRIA3 | c.1968G>C (p.Leu656=) n.5217+9219C>G | |
X | g.123428031G>T | CA518167888 | GRIA3 | c.1968G>T (p.Leu656=) n.5217+9219C>A | |
X | g.123428032A>C | CA414259862 | GRIA3 | c.1969A>C (p.Thr657Pro) n.5217+9218T>G | |
X | g.123428032A>G | CA414259863 | GRIA3 | c.1969A>G (p.Thr657Ala) n.5217+9218T>C | gnomAD v4 |
X | g.123428032A>T | CA414259865 | GRIA3 | c.1969A>T (p.Thr657Ser) n.5217+9218T>A | |
X | g.123428033C>A | CA414259867 | GRIA3 | c.1970C>A (p.Thr657Asn) n.5217+9217G>T | gnomAD v4 |
X | g.123428033C>G | CA414259869 | GRIA3 | c.1970C>G (p.Thr657Ser) n.5217+9217G>C | |
X | g.123428033C>T | CA414259870 | GRIA3 | c.1970C>T (p.Thr657Ile) n.5217+9217G>A | |
X | g.123428033_123428035delinsCTG | CA2455894174 | GRIA3 | c.1970_1972delinsCTG (p.Thr657=) n.5217+9215_5217+9217delinsCAG | |
X | g.123428034T>A | CA518167894 | GRIA3 | c.1971T>A (p.Thr657=) n.5217+9216A>T | |
X | g.123428034T>C | CA518167895 | GRIA3 | c.1971T>C (p.Thr657=) n.5217+9216A>G | |
X | g.123428034T>G | CA518167893 | GRIA3 | c.1971T>G (p.Thr657=) n.5217+9216A>C | |
X | g.123428036_123428037del | CA10507127 | GRIA3 | c.1973_1974del (p.Val658GlyfsTer11) n.5217+9215_5217+9216del | dbSNP ExAC gnomAD v2 gnomAD v4 |