UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |
| X | g.123428035G>A | CA414259873 | GRIA3 | c.1972G>A (p.Val658Met) n.5217+9215C>T | |
| X | g.123428035G>C | CA414259875 | GRIA3 | c.1972G>C (p.Val658Leu) n.5217+9215C>G | |
| X | g.123428035G>T | CA414259876 | GRIA3 | c.1972G>T (p.Val658Leu) n.5217+9215C>A | |
| X | g.123428036T>A | CA414259882 | GRIA3 | c.1973T>A (p.Val658Glu) n.5217+9214A>T | gnomAD v4 |
| X | g.123428036T>C | CA414259880 | GRIA3 | c.1973T>C (p.Val658Ala) n.5217+9214A>G | ClinVar |
| X | g.123428036T>G | CA414259878 | GRIA3 | c.1973T>G (p.Val658Gly) n.5217+9214A>C | |
| X | g.123428037G>A | CA518167900 | GRIA3 | c.1974G>A (p.Val658=) n.5217+9213C>T | gnomAD v4 |
| X | g.123428037G>C | CA518167897 | GRIA3 | c.1974G>C (p.Val658=) n.5217+9213C>G | |
| X | g.123428037G>T | CA518167898 | GRIA3 | c.1974G>T (p.Val658=) n.5217+9213C>A | |
| X | g.123428038G>A | CA414259885 | GRIA3 | c.1975G>A (p.Glu659Lys) n.5217+9212C>T | gnomAD v4 |
| X | g.123428038G>C | CA414259887 | GRIA3 | c.1975G>C (p.Glu659Gln) n.5217+9212C>G | COSMIC COSMIC COSMIC |
| X | g.123428038G>T | CA414259888 | GRIA3 | c.1975G>T (p.Glu659Ter) n.5217+9212C>A | |
| X | g.123428039A>C | CA414259891 | GRIA3 | c.1976A>C (p.Glu659Ala) n.5217+9211T>G | |
| X | g.123428039A>G | CA414259892 | GRIA3 | c.1976A>G (p.Glu659Gly) n.5217+9211T>C | |
| X | g.123428039A>T | CA414259894 | GRIA3 | c.1976A>T (p.Glu659Val) n.5217+9211T>A | |
| X | g.123428040G>A | CA10507128 | GRIA3 | c.1977G>A (p.Glu659=) n.5217+9210C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.123428040G>C | CA414259897 | GRIA3 | c.1977G>C (p.Glu659Asp) n.5217+9210C>G | |
| X | g.123428040G= | CA2455894175 | GRIA3 | c.1977G= (p.Glu659=) n.5217+9210C= | |
| X | g.123428040G>T | CA414259898 | GRIA3 | c.1977G>T (p.Glu659Asp) n.5217+9210C>A | |
| X | g.123428041A>C | CA518167903 | GRIA3 | c.1978A>C (p.Arg660=) n.5217+9209T>G | |
| X | g.123428041A>G | CA414259900 | GRIA3 | c.1978A>G (p.Arg660Gly) n.5217+9209T>C | ClinVar gnomAD v4 |
| X | g.123428041A>T | CA414259902 | GRIA3 | c.1978A>T (p.Arg660Trp) n.5217+9209T>A | |
| X | g.123428042G>A | CA414259909 | GRIA3 | c.1979G>A (p.Arg660Lys) n.5217+9208C>T | |
| X | g.123428042G>C | CA414259907 | GRIA3 | c.1979G>C (p.Arg660Thr) n.5217+9208C>G | ClinVar dbSNP |
| X | g.123428042G>T | CA414259905 | GRIA3 | c.1979G>T (p.Arg660Met) n.5217+9208C>A | |
| X | g.123428043G>A | CA335241242 | GRIA3 | c.1980G>A (p.Arg660=) n.5217+9207C>T | dbSNP gnomAD v4 |
| X | g.123428043G>C | CA414259910 | GRIA3 | c.1980G>C (p.Arg660Ser) n.5217+9207C>G | ClinVar dbSNP |
| X | g.123428043G= | CA2455894176 | GRIA3 | c.1980G= (p.Arg660=) n.5217+9207C= | |
| X | g.123428043G>T | CA414259912 | GRIA3 | c.1980G>T (p.Arg660Ser) n.5217+9207C>A | |
| X | g.123428044A>C | CA414259915 | GRIA3 | c.1981A>C (p.Met661Leu) n.5217+9206T>G | |
| X | g.123428044A>G | CA414259916 | GRIA3 | c.1981A>G (p.Met661Val) n.5217+9206T>C | |
| X | g.123428044A>T | CA414259919 | GRIA3 | c.1981A>T (p.Met661Leu) n.5217+9206T>A | |
| X | g.123428045T>A | CA414259921 | GRIA3 | c.1982T>A (p.Met661Lys) n.5217+9205A>T | |
| X | g.123428045T>C | CA414259922 | GRIA3 | c.1982T>C (p.Met661Thr) n.5217+9205A>G | ClinVar |
| X | g.123428045T>G | CA414259924 | GRIA3 | c.1982T>G (p.Met661Arg) n.5217+9205A>C | |
| X | g.123428046G>A | CA414259926 | GRIA3 | c.1983G>A (p.Met661Ile) n.5217+9204C>T | |
| X | g.123428046G>C | CA414259927 | GRIA3 | c.1983G>C (p.Met661Ile) n.5217+9204C>G | |
| X | g.123428046G>T | CA414259930 | GRIA3 | c.1983G>T (p.Met661Ile) n.5217+9204C>A | |
| X | g.123428047G>A | CA414259935 | GRIA3 | c.1984G>A (p.Val662Ile) n.5217+9203C>T | |
| X | g.123428047G>C | CA414259933 | GRIA3 | c.1984G>C (p.Val662Leu) n.5217+9203C>G | |
| X | g.123428047G>T | CA414259932 | GRIA3 | c.1984G>T (p.Val662Phe) n.5217+9203C>A | |
| X | g.123428048T>A | CA414259938 | GRIA3 | c.1985T>A (p.Val662Asp) n.5217+9202A>T | |
| X | g.123428048T>C | CA414259939 | GRIA3 | c.1985T>C (p.Val662Ala) n.5217+9202A>G | |
| X | g.123428048T>G | CA414259940 | GRIA3 | c.1985T>G (p.Val662Gly) n.5217+9202A>C | |
| X | g.123428049T>A | CA518167909 | GRIA3 | c.1986T>A (p.Val662=) n.5217+9201A>T | |
| X | g.123428049T>C | CA518167910 | GRIA3 | c.1986T>C (p.Val662=) n.5217+9201A>G | |
| X | g.123428049T>G | CA518167911 | GRIA3 | c.1986T>G (p.Val662=) n.5217+9201A>C | |
| X | g.123428050T>A | CA414259943 | GRIA3 | c.1987T>A (p.Ser663Thr) n.5217+9200A>T | |
| X | g.123428050T>C | CA414259944 | GRIA3 | c.1987T>C (p.Ser663Pro) n.5217+9200A>G | |
| X | g.123428050T>G | CA414259946 | GRIA3 | c.1987T>G (p.Ser663Ala) n.5217+9200A>C | |
| X | g.123428051C>A | CA414259948 | GRIA3 | c.1988C>A (p.Ser663Tyr) n.5217+9199G>T | gnomAD v4 |
| X | g.123428051C>G | CA414259950 | GRIA3 | c.1988C>G (p.Ser663Cys) n.5217+9199G>C | |
| X | g.123428051C>T | CA414259952 | GRIA3 | c.1988C>T (p.Ser663Phe) n.5217+9199G>A | |
| X | g.123428052T>A | CA518167912 | GRIA3 | c.1989T>A (p.Ser663=) n.5217+9198A>T | |
| X | g.123428052T>C | CA518167913 | GRIA3 | c.1989T>C (p.Ser663=) n.5217+9198A>G | |
| X | g.123428052T>G | CA518167914 | GRIA3 | c.1989T>G (p.Ser663=) n.5217+9198A>C | |
| X | g.123428053C>A | CA414259954 | GRIA3 | c.1990C>A (p.Pro664Thr) n.5217+9197G>T | |
| X | g.123428053C>G | CA414259956 | GRIA3 | c.1990C>G (p.Pro664Ala) n.5217+9197G>C | |
| X | g.123428053C>T | CA414259957 | GRIA3 | c.1990C>T (p.Pro664Ser) n.5217+9197G>A | ClinVar COSMIC COSMIC COSMIC |
| X | g.123428054C>A | CA414259963 | GRIA3 | c.1991C>A (p.Pro664His) n.5217+9196G>T | |
| X | g.123428054C= | CA2455894177 | GRIA3 | c.1991C= (p.Pro664=) n.5217+9196G= | |
| X | g.123428054C>G | CA414259961 | GRIA3 | c.1991C>G (p.Pro664Arg) n.5217+9196G>C | |
| X | g.123428054C>T | CA414259959 | GRIA3 | c.1991C>T (p.Pro664Leu) n.5217+9196G>A | ClinVar dbSNP |
| X | g.123428055C>A | CA518167918 | GRIA3 | c.1992C>A (p.Pro664=) n.5217+9195G>T | |
| X | g.123428055C>G | CA518167920 | GRIA3 | c.1992C>G (p.Pro664=) n.5217+9195G>C | |
| X | g.123428055C>T | CA518167919 | GRIA3 | c.1992C>T (p.Pro664=) n.5217+9195G>A | ClinVar COSMIC COSMIC COSMIC |
| X | g.123428056A>C | CA414259965 | GRIA3 | c.1993A>C (p.Ile665Leu) n.5217+9194T>G | |
| X | g.123428056A>G | CA414259968 | GRIA3 | c.1993A>G (p.Ile665Val) n.5217+9194T>C | |
| X | g.123428056A>T | CA414259969 | GRIA3 | c.1993A>T (p.Ile665Leu) n.5217+9194T>A | |
| X | g.123428057T>A | CA414259972 | GRIA3 | c.1994T>A (p.Ile665Lys) n.5217+9193A>T | |
| X | g.123428057T>C | CA414259973 | GRIA3 | c.1994T>C (p.Ile665Thr) n.5217+9193A>G | ClinVar gnomAD v4 |
| X | g.123428057T>G | CA414259975 | GRIA3 | c.1994T>G (p.Ile665Arg) n.5217+9193A>C | |
| X | g.123428058A>C | CA518167921 | GRIA3 | c.1995A>C (p.Ile665=) n.5217+9192T>G | gnomAD v4 |
| X | g.123428058A>G | CA414259976 | GRIA3 | c.1995A>G (p.Ile665Met) n.5217+9192T>C | |
| X | g.123428058A>T | CA518167922 | GRIA3 | c.1995A>T (p.Ile665=) n.5217+9192T>A | |
| X | g.123428062_123428063del | CA2694612038 | GRIA3 | c.1999_2000del (p.Ser667CysfsTer2) n.5217+9191_5217+9192del | gnomAD v4 |
| X | g.123428059G>A | CA414259982 | GRIA3 | c.1996G>A (p.Glu666Lys) n.5217+9191C>T | COSMIC COSMIC |
| X | g.123428059G>C | CA414259979 | GRIA3 | c.1996G>C (p.Glu666Gln) n.5217+9191C>G | gnomAD v4 |
| X | g.123428059G>T | CA414259981 | GRIA3 | c.1996G>T (p.Glu666Ter) n.5217+9191C>A | COSMIC COSMIC COSMIC |
| X | g.123428060A>C | CA414259985 | GRIA3 | c.1997A>C (p.Glu666Ala) n.5217+9190T>G | |
| X | g.123428060A>G | CA414259986 | GRIA3 | c.1997A>G (p.Glu666Gly) n.5217+9190T>C | |
| X | g.123428060A>T | CA414259988 | GRIA3 | c.1997A>T (p.Glu666Val) n.5217+9190T>A | |
| X | g.123428061G>A | CA518167926 | GRIA3 | c.1998G>A (p.Glu666=) n.5217+9189C>T | ClinVar dbSNP gnomAD v4 |
| X | g.123428061G>C | CA414259991 | GRIA3 | c.1998G>C (p.Glu666Asp) n.5217+9189C>G | |
| X | g.123428061G>T | CA414259993 | GRIA3 | c.1998G>T (p.Glu666Asp) n.5217+9189C>A | |
| X | g.123428062A= | CA2455894178 | GRIA3 | c.1999A= (p.Ser667=) n.5217+9188T= | |
| X | g.123428062A>C | CA414259995 | GRIA3 | c.1999A>C (p.Ser667Arg) n.5217+9188T>G | |
| X | g.123428062A>G | CA16608687 | GRIA3 | c.1999A>G (p.Ser667Gly) n.5217+9188T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.123428062A>T | CA414259996 | GRIA3 | c.1999A>T (p.Ser667Cys) n.5217+9188T>A | |
| X | g.123428063G>A | CA414259999 | GRIA3 | c.2000G>A (p.Ser667Asn) n.5217+9187C>T | |
| X | g.123428063G>C | CA414260001 | GRIA3 | c.2000G>C (p.Ser667Thr) n.5217+9187C>G | |
| X | g.123428063G>T | CA414260002 | GRIA3 | c.2000G>T (p.Ser667Ile) n.5217+9187C>A | |
| X | g.123428064T>A | CA414260005 | GRIA3 | c.2001T>A (p.Ser667Arg) n.5217+9186A>T | |
| X | g.123428064T>C | CA518167931 | GRIA3 | c.2001T>C (p.Ser667=) n.5217+9186A>G | |
| X | g.123428064T>G | CA414260007 | GRIA3 | c.2001T>G (p.Ser667Arg) n.5217+9186A>C | |
| X | g.123428065G>A | CA335241243 | GRIA3 | c.2002G>A (p.Ala668Thr) n.5217+9185C>T | dbSNP gnomAD v3 gnomAD v4 |
| X | g.123428065G>C | CA414260010 | GRIA3 | c.2002G>C (p.Ala668Pro) n.5217+9185C>G | |
| X | g.123428065G= | CA2455894179 | GRIA3 | c.2002G= (p.Ala668=) n.5217+9185C= | |
| X | g.123428065G>T | CA414260012 | GRIA3 | c.2002G>T (p.Ala668Ser) n.5217+9185C>A | |
| X | g.123428066C>A | CA414260014 | GRIA3 | c.2003C>A (p.Ala668Asp) n.5217+9184G>T | |
| X | g.123428066C>G | CA414260015 | GRIA3 | c.2003C>G (p.Ala668Gly) n.5217+9184G>C | |
| X | g.123428066C>T | CA414260017 | GRIA3 | c.2003C>T (p.Ala668Val) n.5217+9184G>A | |
| X | g.123428067T>A | CA518167935 | GRIA3 | c.2004T>A (p.Ala668=) n.5217+9183A>T | |
| X | g.123428067T>C | CA518167936 | GRIA3 | c.2004T>C (p.Ala668=) n.5217+9183A>G | gnomAD v4 |
| X | g.123428067T>G | CA518167937 | GRIA3 | c.2004T>G (p.Ala668=) n.5217+9183A>C | |
| X | g.123428068G>A | CA414260020 | GRIA3 | c.2005G>A (p.Glu669Lys) n.5217+9182C>T | |
| X | g.123428068G>C | CA414260023 | GRIA3 | c.2005G>C (p.Glu669Gln) n.5217+9182C>G | |
| X | g.123428068G>T | CA414260021 | GRIA3 | c.2005G>T (p.Glu669Ter) n.5217+9182C>A | |
| X | g.123428069A>C | CA414260026 | GRIA3 | c.2006A>C (p.Glu669Ala) n.5217+9181T>G | |
| X | g.123428069A>G | CA414260028 | GRIA3 | c.2006A>G (p.Glu669Gly) n.5217+9181T>C | |
| X | g.123428069A>T | CA414260030 | GRIA3 | c.2006A>T (p.Glu669Val) n.5217+9181T>A | |
| X | g.123428070A>C | CA414260031 | GRIA3 | c.2007A>C (p.Glu669Asp) n.5217+9180T>G | |
| X | g.123428070A>G | CA518167941 | GRIA3 | c.2007A>G (p.Glu669=) n.5217+9180T>C | |
| X | g.123428070A>T | CA414260034 | GRIA3 | c.2007A>T (p.Glu669Asp) n.5217+9180T>A | |
| X | g.123428071G>A | CA414260036 | GRIA3 | c.2008G>A (p.Asp670Asn) n.5217+9179C>T | |
| X | g.123428071G>C | CA414260037 | GRIA3 | c.2008G>C (p.Asp670His) n.5217+9179C>G | |
| X | g.123428071G>T | CA414260039 | GRIA3 | c.2008G>T (p.Asp670Tyr) n.5217+9179C>A | |
| X | g.123428072A>C | CA414260041 | GRIA3 | c.2009A>C (p.Asp670Ala) n.5217+9178T>G | |
| X | g.123428072A>G | CA414260044 | GRIA3 | c.2009A>G (p.Asp670Gly) n.5217+9178T>C | |
| X | g.123428072A>T | CA414260046 | GRIA3 | c.2009A>T (p.Asp670Val) n.5217+9178T>A | |
| X | g.123428073C>A | CA414260047 | GRIA3 | c.2010C>A (p.Asp670Glu) n.5217+9177G>T | |
| X | g.123428073C>G | CA414260049 | GRIA3 | c.2010C>G (p.Asp670Glu) n.5217+9177G>C | |
| X | g.123428073C>T | CA518167942 | GRIA3 | c.2010C>T (p.Asp670=) n.5217+9177G>A | |
| X | g.123428074T>A | CA414260052 | GRIA3 | c.2011T>A (p.Leu671Ile) n.5217+9176A>T | |
| X | g.123428074T>C | CA518167943 | GRIA3 | c.2011T>C (p.Leu671=) n.5217+9176A>G | |
| X | g.123428074T>G | CA414260053 | GRIA3 | c.2011T>G (p.Leu671Val) n.5217+9176A>C | |
| X | g.123428075T>A | CA414260056 | GRIA3 | c.2012T>A (p.Leu671Ter) n.5217+9175A>T | |
| X | g.123428075T>C | CA414260057 | GRIA3 | c.2012T>C (p.Leu671Ser) n.5217+9175A>G | |
| X | g.123428075T>G | CA414260059 | GRIA3 | c.2012T>G (p.Leu671Ter) n.5217+9175A>C | |
| X | g.123428076A= | CA2455894180 | GRIA3 | c.2013A= (p.Leu671=) n.5217+9174T= | |
| X | g.123428076A>C | CA414260061 | GRIA3 | c.2013A>C (p.Leu671Phe) n.5217+9174T>G | |
| X | g.123428076A>G | CA518167947 | GRIA3 | c.2013A>G (p.Leu671=) n.5217+9174T>C | ClinVar dbSNP gnomAD v4 |
| X | g.123428076A>T | CA414260063 | GRIA3 | c.2013A>T (p.Leu671Phe) n.5217+9174T>A | |
| X | g.123428077G>A | CA414260065 | GRIA3 | c.2014G>A (p.Ala672Thr) n.5217+9173C>T | |
| X | g.123428077G>C | CA414260067 | GRIA3 | c.2014G>C (p.Ala672Pro) n.5217+9173C>G | |
| X | g.123428077G>T | CA414260069 | GRIA3 | c.2014G>T (p.Ala672Ser) n.5217+9173C>A | gnomAD v4 |
| X | g.123428078C>A | CA414260071 | GRIA3 | c.2015C>A (p.Ala672Asp) n.5217+9172G>T | |
| X | g.123428078C>G | CA414260073 | GRIA3 | c.2015C>G (p.Ala672Gly) n.5217+9172G>C | |
| X | g.123428078C>T | CA414260075 | GRIA3 | c.2015C>T (p.Ala672Val) n.5217+9172G>A | |
| X | g.123428079T>A | CA518167948 | GRIA3 | c.2016T>A (p.Ala672=) n.5217+9171A>T | |
| X | g.123428079T>C | CA518167949 | GRIA3 | c.2016T>C (p.Ala672=) n.5217+9171A>G | |
| X | g.123428079T>G | CA518167950 | GRIA3 | c.2016T>G (p.Ala672=) n.5217+9171A>C | |
| X | g.123428080A>C | CA414260079 | GRIA3 | c.2017A>C (p.Lys673Gln) n.5217+9170T>G | |
| X | g.123428080A>G | CA414260081 | GRIA3 | c.2017A>G (p.Lys673Glu) n.5217+9170T>C | |
| X | g.123428080A>T | CA414260078 | GRIA3 | c.2017A>T (p.Lys673Ter) n.5217+9170T>A | |
| X | g.123428082del | CA2529172488 | GRIA3 | c.2019del (p.Lys673AsnfsTer?) n.5217+9170del | |
| X | g.123428081A>C | CA414260085 | GRIA3 | c.2018A>C (p.Lys673Thr) n.5217+9169T>G | |
| X | g.123428081A>G | CA414260083 | GRIA3 | c.2018A>G (p.Lys673Arg) n.5217+9169T>C | |
| X | g.123428081A>T | CA414260087 | GRIA3 | c.2018A>T (p.Lys673Ile) n.5217+9169T>A | |
| X | g.123428082A>C | CA414260089 | GRIA3 | c.2019A>C (p.Lys673Asn) n.5217+9168T>G | |
| X | g.123428082A>G | CA518167951 | GRIA3 | c.2019A>G (p.Lys673=) n.5217+9168T>C | |
| X | g.123428082A>T | CA414260091 | GRIA3 | c.2019A>T (p.Lys673Asn) n.5217+9168T>A | |
| X | g.123428083C>A | CA414260094 | GRIA3 | c.2020C>A (p.Gln674Lys) n.5217+9167G>T | |
| X | g.123428083C>G | CA414260095 | GRIA3 | c.2020C>G (p.Gln674Glu) n.5217+9167G>C | |
| X | g.123428083C>T | CA414260098 | GRIA3 | c.2020C>T (p.Gln674Ter) n.5217+9167G>A | |
| X | g.123428084A>C | CA414260100 | GRIA3 | c.2021A>C (p.Gln674Pro) n.5217+9166T>G | |
| X | g.123428084A>G | CA414260102 | GRIA3 | c.2021A>G (p.Gln674Arg) n.5217+9166T>C | ClinVar |
| X | g.123428084A>T | CA414260104 | GRIA3 | c.2021A>T (p.Gln674Leu) n.5217+9166T>A | |
| X | g.123428085G>A | CA518167952 | GRIA3 | c.2022G>A (p.Gln674=) n.5217+9165C>T | |
| X | g.123428085G>C | CA414260108 | GRIA3 | c.2022G>C (p.Gln674His) n.5217+9165C>G | |
| X | g.123428085G>T | CA414260110 | GRIA3 | c.2022G>T (p.Gln674His) n.5217+9165C>A | |
| X | g.123428086A>C | CA414260113 | GRIA3 | c.2023A>C (p.Thr675Pro) n.5217+9164T>G | |
| X | g.123428086A>G | CA414260114 | GRIA3 | c.2023A>G (p.Thr675Ala) n.5217+9164T>C | gnomAD v4 |
| X | g.123428086A>T | CA414260116 | GRIA3 | c.2023A>T (p.Thr675Ser) n.5217+9164T>A | |
| X | g.123428087C>A | CA414260122 | GRIA3 | c.2024C>A (p.Thr675Asn) n.5217+9163G>T | |
| X | g.123428087C>G | CA414260119 | GRIA3 | c.2024C>G (p.Thr675Ser) n.5217+9163G>C | |
| X | g.123428087C>T | CA414260120 | GRIA3 | c.2024C>T (p.Thr675Ile) n.5217+9163G>A | gnomAD v4 |
| X | g.123428088T>A | CA518167953 | GRIA3 | c.2025T>A (p.Thr675=) n.5217+9162A>T | |
| X | g.123428088T>C | CA518167954 | GRIA3 | c.2025T>C (p.Thr675=) n.5217+9162A>G | dbSNP |
| X | g.123428088T>G | CA518167955 | GRIA3 | c.2025T>G (p.Thr675=) n.5217+9162A>C | |
| X | g.123428088T= | CA2455894181 | GRIA3 | c.2025T= (p.Thr675=) n.5217+9162A= | |
| X | g.123428089G>A | CA414260125 | GRIA3 | c.2026G>A (p.Glu676Lys) n.5217+9161C>T | |
| X | g.123428089G>C | CA414260126 | GRIA3 | c.2026G>C (p.Glu676Gln) n.5217+9161C>G | |
| X | g.123428089G>T | CA414260129 | GRIA3 | c.2026G>T (p.Glu676Ter) n.5217+9161C>A | |
| X | g.123428090A>C | CA414260131 | GRIA3 | c.2027A>C (p.Glu676Ala) n.5217+9160T>G | |
| X | g.123428090A>G | CA414260132 | GRIA3 | c.2027A>G (p.Glu676Gly) n.5217+9160T>C | |
| X | g.123428090A>T | CA414260133 | GRIA3 | c.2027A>T (p.Glu676Val) n.5217+9160T>A | |
| X | g.123428092del | CA2694612039 | GRIA3 | c.2029del (p.Ile677LeufsTer30) n.5217+9160del | gnomAD v4 |
| X | g.123428091A>C | CA414260135 | GRIA3 | c.2028A>C (p.Glu676Asp) n.5217+9159T>G | |
| X | g.123428091A>G | CA518167956 | GRIA3 | c.2028A>G (p.Glu676=) n.5217+9159T>C | |
| X | g.123428091A>T | CA414260136 | GRIA3 | c.2028A>T (p.Glu676Asp) n.5217+9159T>A | |
| X | g.123428092A>C | CA414260139 | GRIA3 | c.2029A>C (p.Ile677Leu) n.5217+9158T>G | |
| X | g.123428092A>G | CA414260146 | GRIA3 | c.2029A>G (p.Ile677Val) n.5217+9158T>C | |
| X | g.123428092A>T | CA414260147 | GRIA3 | c.2029A>T (p.Ile677Phe) n.5217+9158T>A | |
| X | g.123428093T>A | CA414260154 | GRIA3 | c.2030T>A (p.Ile677Asn) n.5217+9157A>T | |
| X | g.123428093T>C | CA414260152 | GRIA3 | c.2030T>C (p.Ile677Thr) n.5217+9157A>G | |
| X | g.123428093T>G | CA414260150 | GRIA3 | c.2030T>G (p.Ile677Ser) n.5217+9157A>C | |
| X | g.123428094T>A | CA518167957 | GRIA3 | c.2031T>A (p.Ile677=) n.5217+9156A>T | |
| X | g.123428094T>C | CA518167958 | GRIA3 | c.2031T>C (p.Ile677=) n.5217+9156A>G | |
| X | g.123428094T>G | CA414260156 | GRIA3 | c.2031T>G (p.Ile677Met) n.5217+9156A>C | |
| X | g.123428095G>A | CA414260158 | GRIA3 | c.2032G>A (p.Ala678Thr) n.5217+9155C>T | |
| X | g.123428095G>C | CA414260159 | GRIA3 | c.2032G>C (p.Ala678Pro) n.5217+9155C>G | |
| X | g.123428095G>T | CA414260161 | GRIA3 | c.2032G>T (p.Ala678Ser) n.5217+9155C>A | |
| X | g.123428096C>A | CA414260163 | GRIA3 | c.2033C>A (p.Ala678Glu) n.5217+9154G>T | |
| X | g.123428096C= | CA2455894182 | GRIA3 | c.2033C= (p.Ala678=) n.5217+9154G= | |
| X | g.123428096C>G | CA414260165 | GRIA3 | c.2033C>G (p.Ala678Gly) n.5217+9154G>C | |
| X | g.123428096C>T | CA10507129 | GRIA3 | c.2033C>T (p.Ala678Val) n.5217+9154G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.123428097A>C | CA518167959 | GRIA3 | c.2034A>C (p.Ala678=) n.5217+9153T>G | |
| X | g.123428097A>G | CA518167960 | GRIA3 | c.2034A>G (p.Ala678=) n.5217+9153T>C | |
| X | g.123428097A>T | CA518167961 | GRIA3 | c.2034A>T (p.Ala678=) n.5217+9153T>A | |
| X | g.123428098T>A | CA414260168 | GRIA3 | c.2035T>A (p.Tyr679Asn) n.5217+9152A>T | |
| X | g.123428098T>C | CA414260169 | GRIA3 | c.2035T>C (p.Tyr679His) n.5217+9152A>G | |
| X | g.123428098T>G | CA414260170 | GRIA3 | c.2035T>G (p.Tyr679Asp) n.5217+9152A>C | |
| X | g.123428099A>C | CA414260173 | GRIA3 | c.2036A>C (p.Tyr679Ser) n.5217+9151T>G | |
| X | g.123428099A>G | CA414260174 | GRIA3 | c.2036A>G (p.Tyr679Cys) n.5217+9151T>C | |
| X | g.123428099A>T | CA414260177 | GRIA3 | c.2036A>T (p.Tyr679Phe) n.5217+9151T>A | |
| X | g.123428100T>A | CA414260182 | GRIA3 | c.2037T>A (p.Tyr679Ter) n.5217+9150A>T | |
| X | g.123428100T>C | CA10507130 | GRIA3 | c.2037T>C (p.Tyr679=) n.5217+9150A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.123428100T>G | CA414260180 | GRIA3 | c.2037T>G (p.Tyr679Ter) n.5217+9150A>C | |
| X | g.123428100T= | CA2455894183 | GRIA3 | c.2037T= (p.Tyr679=) n.5217+9150A= | |
| X | g.123428101G>A | CA414260184 | GRIA3 | c.2038G>A (p.Gly680Arg) n.5217+9149C>T | |
| X | g.123428101G>C | CA414260186 | GRIA3 | c.2038G>C (p.Gly680Arg) n.5217+9149C>G | |
| X | g.123428101G>T | CA414260188 | GRIA3 | c.2038G>T (p.Gly680Trp) n.5217+9149C>A | |
| X | g.123428101_123428103delinsTGT | CA2573055091 | GRIA3 | c.2038_2040delinsTGT (p.Gly680Cys) n.5217+9147_5217+9149delinsACA | ClinVar dbSNP |
| X | g.123428102G>A | CA414260190 | GRIA3 | c.2039G>A (p.Gly680Glu) n.5217+9148C>T | |
| X | g.123428102G>C | CA414260191 | GRIA3 | c.2039G>C (p.Gly680Ala) n.5217+9148C>G | |
| X | g.123428102G>T | CA414260193 | GRIA3 | c.2039G>T (p.Gly680Val) n.5217+9148C>A | |
| X | g.123428103G>A | CA518167962 | GRIA3 | c.2040G>A (p.Gly680=) n.5217+9147C>T | |
| X | g.123428103G>C | CA518167963 | GRIA3 | c.2040G>C (p.Gly680=) n.5217+9147C>G | |
| X | g.123428103G>T | CA518167964 | GRIA3 | c.2040G>T (p.Gly680=) n.5217+9147C>A | |
| X | g.123428104A>C | CA414260196 | GRIA3 | c.2041A>C (p.Thr681Pro) n.5217+9146T>G | |
| X | g.123428104A>G | CA414260197 | GRIA3 | c.2041A>G (p.Thr681Ala) n.5217+9146T>C | |
| X | g.123428104A>T | CA414260199 | GRIA3 | c.2041A>T (p.Thr681Ser) n.5217+9146T>A | |
| X | g.123428105C>A | CA414260202 | GRIA3 | c.2042C>A (p.Thr681Asn) n.5217+9145G>T | |
| X | g.123428105C>G | CA414260203 | GRIA3 | c.2042C>G (p.Thr681Ser) n.5217+9145G>C | |
| X | g.123428105C>T | CA414260205 | GRIA3 | c.2042C>T (p.Thr681Ile) n.5217+9145G>A | |
| X | g.123428106C>A | CA518167965 | GRIA3 | c.2043C>A (p.Thr681=) n.5217+9144G>T | gnomAD v4 |
| X | g.123428106C>G | CA518167966 | GRIA3 | c.2043C>G (p.Thr681=) n.5217+9144G>C | |
| X | g.123428106C>T | CA518167967 | GRIA3 | c.2043C>T (p.Thr681=) n.5217+9144G>A | |
| X | g.123428107C>A | CA414260208 | GRIA3 | c.2044C>A (p.Leu682Met) n.5217+9143G>T | |
| X | g.123428107C>G | CA414260209 | GRIA3 | c.2044C>G (p.Leu682Val) n.5217+9143G>C | |
| X | g.123428107C>T | CA518167968 | GRIA3 | c.2044C>T (p.Leu682=) n.5217+9143G>A | |
| X | g.123428108T>A | CA414260212 | GRIA3 | c.2045T>A (p.Leu682Gln) n.5217+9142A>T | |
| X | g.123428108T>C | CA414260216 | GRIA3 | c.2045T>C (p.Leu682Pro) n.5217+9142A>G | |
| X | g.123428108T>G | CA414260214 | GRIA3 | c.2045T>G (p.Leu682Arg) n.5217+9142A>C | COSMIC COSMIC COSMIC |
| X | g.123428109G>A | CA518167969 | GRIA3 | c.2046G>A (p.Leu682=) n.5217+9141C>T | gnomAD v4 |
| X | g.123428109G>C | CA518167970 | GRIA3 | c.2046G>C (p.Leu682=) n.5217+9141C>G | |
| X | g.123428109G>T | CA518167971 | GRIA3 | c.2046G>T (p.Leu682=) n.5217+9141C>A | |
| X | g.123428110G>A | CA414260218 | GRIA3 | c.2047G>A (p.Asp683Asn) n.5217+9140C>T | |
| X | g.123428110G>C | CA414260219 | GRIA3 | c.2047G>C (p.Asp683His) n.5217+9140C>G | |
| X | g.123428110G>T | CA414260221 | GRIA3 | c.2047G>T (p.Asp683Tyr) n.5217+9140C>A | |
| X | g.123428111A>C | CA414260224 | GRIA3 | c.2048A>C (p.Asp683Ala) n.5217+9139T>G | |
| X | g.123428111A>G | CA414260225 | GRIA3 | c.2048A>G (p.Asp683Gly) n.5217+9139T>C | gnomAD v4 |
| X | g.123428111A>T | CA414260228 | GRIA3 | c.2048A>T (p.Asp683Val) n.5217+9139T>A | |
| X | g.123428112C>A | CA414260230 | GRIA3 | c.2049C>A (p.Asp683Glu) n.5217+9138G>T | gnomAD v4 |
| X | g.123428112C= | CA2455894184 | GRIA3 | c.2049C= (p.Asp683=) n.5217+9138G= | |
| X | g.123428112C>G | CA414260232 | GRIA3 | c.2049C>G (p.Asp683Glu) n.5217+9138G>C | |
| X | g.123428112C>T | CA10507131 | GRIA3 | c.2049C>T (p.Asp683=) n.5217+9138G>A | dbSNP ExAC gnomAD v4 |
| X | g.123428113T>A | CA414260234 | GRIA3 | c.2050T>A (p.Ser684Thr) n.5217+9137A>T | |
| X | g.123428113T>C | CA414260236 | GRIA3 | c.2050T>C (p.Ser684Pro) n.5217+9137A>G | COSMIC COSMIC COSMIC |
| X | g.123428113T>G | CA414260238 | GRIA3 | c.2050T>G (p.Ser684Ala) n.5217+9137A>C | |
| X | g.123428114C>A | CA414260240 | GRIA3 | c.2051C>A (p.Ser684Tyr) n.5217+9136G>T | gnomAD v4 |
| X | g.123428114C>G | CA414260244 | GRIA3 | c.2051C>G (p.Ser684Cys) n.5217+9136G>C | |
| X | g.123428114C>T | CA414260242 | GRIA3 | c.2051C>T (p.Ser684Phe) n.5217+9136G>A | |
| X | g.123428115C>A | CA518167972 | GRIA3 | c.2052C>A (p.Ser684=) n.5217+9135G>T | gnomAD v4 |
| X | g.123428115C= | CA2455894185 | GRIA3 | c.2052C= (p.Ser684=) n.5217+9135G= | |
| X | g.123428115C>G | CA518167973 | GRIA3 | c.2052C>G (p.Ser684=) n.5217+9135G>C | |
| X | g.123428115C>T | CA10507132 | GRIA3 | c.2052C>T (p.Ser684=) n.5217+9135G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.123428116G>A | CA414260248 | GRIA3 | c.2053G>A (p.Gly685Ser) n.5217+9134C>T | COSMIC COSMIC COSMIC |
| X | g.123428116G>C | CA414260250 | GRIA3 | c.2053G>C (p.Gly685Arg) n.5217+9134C>G | |
| X | g.123428116G>T | CA414260251 | GRIA3 | c.2053G>T (p.Gly685Cys) n.5217+9134C>A | |
| X | g.123428117G>A | CA414260254 | GRIA3 | c.2054G>A (p.Gly685Asp) n.5217+9133C>T | |
| X | g.123428117G>C | CA414260256 | GRIA3 | c.2054G>C (p.Gly685Ala) n.5217+9133C>G | |
| X | g.123428117G>T | CA414260257 | GRIA3 | c.2054G>T (p.Gly685Val) n.5217+9133C>A | |
| X | g.123428118T>A | CA518167974 | GRIA3 | c.2055T>A (p.Gly685=) n.5217+9132A>T | |
| X | g.123428118T>C | CA518167975 | GRIA3 | c.2055T>C (p.Gly685=) n.5217+9132A>G | |
| X | g.123428118T>G | CA518167976 | GRIA3 | c.2055T>G (p.Gly685=) n.5217+9132A>C | |
| X | g.123428119T>A | CA414260259 | GRIA3 | c.2056T>A (p.Ser686Thr) n.5217+9131A>T | gnomAD v4 |
| X | g.123428119T>C | CA414260261 | GRIA3 | c.2056T>C (p.Ser686Pro) n.5217+9131A>G | gnomAD v4 |
| X | g.123428119T>G | CA414260262 | GRIA3 | c.2056T>G (p.Ser686Ala) n.5217+9131A>C | |
| X | g.123428120C>A | CA414260267 | GRIA3 | c.2057C>A (p.Ser686Ter) n.5217+9130G>T | gnomAD v4 COSMIC COSMIC COSMIC |
| X | g.123428120C>G | CA414260268 | GRIA3 | c.2057C>G (p.Ser686Ter) n.5217+9130G>C | |
| X | g.123428120C>T | CA414260265 | GRIA3 | c.2057C>T (p.Ser686Leu) n.5217+9130G>A | |
| X | g.123428121A>C | CA518167979 | GRIA3 | c.2058A>C (p.Ser686=) n.5217+9129T>G | |
| X | g.123428121A>G | CA518167978 | GRIA3 | c.2058A>G (p.Ser686=) n.5217+9129T>C | |
| X | g.123428121A>T | CA518167977 | GRIA3 | c.2058A>T (p.Ser686=) n.5217+9129T>A | |
| X | g.123428122A>C | CA414260270 | GRIA3 | c.2059A>C (p.Thr687Pro) n.5217+9128T>G | |
| X | g.123428122A>G | CA414260272 | GRIA3 | c.2059A>G (p.Thr687Ala) n.5217+9128T>C | |
| X | g.123428122A>T | CA414260274 | GRIA3 | c.2059A>T (p.Thr687Ser) n.5217+9128T>A | |
| X | g.123428123C>A | CA414260276 | GRIA3 | c.2060C>A (p.Thr687Lys) n.5217+9127G>T | |
| X | g.123428123C>G | CA414260277 | GRIA3 | c.2060C>G (p.Thr687Arg) n.5217+9127G>C | |
| X | g.123428123C>T | CA414260280 | GRIA3 | c.2060C>T (p.Thr687Ile) n.5217+9127G>A | |
| X | g.123428124A>C | CA518167982 | GRIA3 | c.2061A>C (p.Thr687=) n.5217+9126T>G | |
| X | g.123428124A>G | CA518167981 | GRIA3 | c.2061A>G (p.Thr687=) n.5217+9126T>C | |
| X | g.123428124A>T | CA518167980 | GRIA3 | c.2061A>T (p.Thr687=) n.5217+9126T>A | |
| X | g.123428125A>C | CA414260286 | GRIA3 | c.2062A>C (p.Lys688Gln) n.5217+9125T>G | |
| X | g.123428125A>G | CA414260283 | GRIA3 | c.2062A>G (p.Lys688Glu) n.5217+9125T>C | |
| X | g.123428125A>T | CA414260284 | GRIA3 | c.2062A>T (p.Lys688Ter) n.5217+9125T>A | |
| X | g.123428126A>C | CA414260288 | GRIA3 | c.2063A>C (p.Lys688Thr) n.5217+9124T>G | |
| X | g.123428126A>G | CA414260290 | GRIA3 | c.2063A>G (p.Lys688Arg) n.5217+9124T>C | |
| X | g.123428126A>T | CA414260292 | GRIA3 | c.2063A>T (p.Lys688Ile) n.5217+9124T>A | |
| X | g.123428127A>C | CA414260294 | GRIA3 | c.2064A>C (p.Lys688Asn) n.5217+9123T>G | |
| X | g.123428127A>G | CA518167983 | GRIA3 | c.2064A>G (p.Lys688=) n.5217+9123T>C | gnomAD v4 |
| X | g.123428127A>T | CA414260296 | GRIA3 | c.2064A>T (p.Lys688Asn) n.5217+9123T>A | |
| X | g.123428128G>A | CA414260298 | GRIA3 | c.2065G>A (p.Glu689Lys) n.5217+9122C>T | |
| X | g.123428128G>C | CA414260302 | GRIA3 | c.2065G>C (p.Glu689Gln) n.5217+9122C>G | |
| X | g.123428128G>T | CA414260300 | GRIA3 | c.2065G>T (p.Glu689Ter) n.5217+9122C>A | |
| X | g.123428129A>C | CA414260304 | GRIA3 | c.2066A>C (p.Glu689Ala) n.5217+9121T>G | |
| X | g.123428129A>G | CA414260306 | GRIA3 | c.2066A>G (p.Glu689Gly) n.5217+9121T>C | gnomAD v4 |
| X | g.123428129A>T | CA414260308 | GRIA3 | c.2066A>T (p.Glu689Val) n.5217+9121T>A | |
| X | g.123428130A>C | CA414260310 | GRIA3 | c.2067A>C (p.Glu689Asp) n.5217+9120T>G | |
| X | g.123428130A>G | CA518167984 | GRIA3 | c.2067A>G (p.Glu689=) n.5217+9120T>C | gnomAD v4 |
| X | g.123428130A>T | CA414260312 | GRIA3 | c.2067A>T (p.Glu689Asp) n.5217+9120T>A | |
| X | g.123428131T>A | CA414260314 | GRIA3 | c.2068T>A (p.Phe690Ile) n.5217+9119A>T | |
| X | g.123428131T>C | CA414260316 | GRIA3 | c.2068T>C (p.Phe690Leu) n.5217+9119A>G | gnomAD v4 |
| X | g.123428131T>G | CA414260318 | GRIA3 | c.2068T>G (p.Phe690Val) n.5217+9119A>C | |
| X | g.123428132T>A | CA414260320 | GRIA3 | c.2069T>A (p.Phe690Tyr) n.5217+9118A>T | |
| X | g.123428132T>C | CA414260322 | GRIA3 | c.2069T>C (p.Phe690Ser) n.5217+9118A>G | |
| X | g.123428132T>G | CA414260324 | GRIA3 | c.2069T>G (p.Phe690Cys) n.5217+9118A>C | |
| X | g.123428133T>A | CA414260325 | GRIA3 | c.2070T>A (p.Phe690Leu) n.5217+9117A>T | |
| X | g.123428133T>C | CA518167985 | GRIA3 | c.2070T>C (p.Phe690=) n.5217+9117A>G | |
| X | g.123428133T>G | CA414260326 | GRIA3 | c.2070T>G (p.Phe690Leu) n.5217+9117A>C | |
| X | g.123428134T>A | CA414260328 | GRIA3 | c.2071T>A (p.Phe691Ile) n.5217+9116A>T | |
| X | g.123428134T>C | CA414260329 | GRIA3 | c.2071T>C (p.Phe691Leu) n.5217+9116A>G | gnomAD v4 |
| X | g.123428134T>G | CA414260327 | GRIA3 | c.2071T>G (p.Phe691Val) n.5217+9116A>C |