| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.99881302_99881330del | CA2646736197 | AGL | c.2012_2040del (p.Val671GlufsTer3) n.2223_2251del c.1964_1992del (p.Val655GlufsTer3) c.1961_1989del (p.Val654GlufsTer3) c.272_300del (p.Val91GlufsTer3) | gnomAD v4 |
| 1 | g.99881301del | CA2580063403 | AGL | c.2011del (p.Val671PhefsTer?) n.2222del c.1963del (p.Val655PhefsTer?) c.1960del (p.Val654PhefsTer?) c.271del (p.Val91PhefsTer?) | ClinVar |
| 1 | g.99881300_99881302delinsGGT | CA1183929272 | AGL | c.2010_2012delinsGGT (p.Val670=) n.2221_2223delinsGGT c.1962_1964delinsGGT (p.Val654=) c.1959_1961delinsGGT (p.Val653=) c.270_272delinsGGT (p.Val90=) | |
| 1 | g.99881301G>A | CA341318492 | AGL | c.2011G>A (p.Val671Ile) n.2222G>A c.1963G>A (p.Val655Ile) c.1960G>A (p.Val654Ile) c.271G>A (p.Val91Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.99881301G>C | CA341318494 | AGL | c.2011G>C (p.Val671Leu) n.2222G>C c.1963G>C (p.Val655Leu) c.1960G>C (p.Val654Leu) c.271G>C (p.Val91Leu) | |
| 1 | g.99881301G= | CA1183929274 | AGL | c.2011G= (p.Val671=) n.2222G= c.1963G= (p.Val655=) c.1960G= (p.Val654=) c.271G= (p.Val91=) | |
| 1 | g.99881301G>T | CA341318496 | AGL | c.2011G>T (p.Val671Phe) n.2222G>T c.1963G>T (p.Val655Phe) c.1960G>T (p.Val654Phe) c.271G>T (p.Val91Phe) | dbSNP |
| 1 | g.99881301_99881302del | CA16040834 | AGL | c.2011_2012del (p.Val671PhefsTer2) n.2222_2223del c.1963_1964del (p.Val655PhefsTer2) c.1960_1961del (p.Val654PhefsTer2) c.271_272del (p.Val91PhefsTer2) | ClinVar dbSNP |
| 1 | g.99881302T>A | CA341318500 | AGL | c.2012T>A (p.Val671Asp) n.2223T>A c.1964T>A (p.Val655Asp) c.1961T>A (p.Val654Asp) c.272T>A (p.Val91Asp) | |
| 1 | g.99881302T>C | CA341318509 | AGL | c.2012T>C (p.Val671Ala) n.2223T>C c.1964T>C (p.Val655Ala) c.1961T>C (p.Val654Ala) c.272T>C (p.Val91Ala) | |
| 1 | g.99881302T>G | CA341318511 | AGL | c.2012T>G (p.Val671Gly) n.2223T>G c.1964T>G (p.Val655Gly) c.1961T>G (p.Val654Gly) c.272T>G (p.Val91Gly) | |
| 1 | g.99881303T>A | CA419314343 | AGL | c.2013T>A (p.Val671=) n.2224T>A c.1965T>A (p.Val655=) c.1962T>A (p.Val654=) c.273T>A (p.Val91=) | |
| 1 | g.99881303T>C | CA419314345 | AGL | c.2013T>C (p.Val671=) n.2224T>C c.1965T>C (p.Val655=) c.1962T>C (p.Val654=) c.273T>C (p.Val91=) | |
| 1 | g.99881303T>G | CA419314347 | AGL | c.2013T>G (p.Val671=) n.2224T>G c.1965T>G (p.Val655=) c.1962T>G (p.Val654=) c.273T>G (p.Val91=) | |
| 1 | g.99881304T>A | CA341318517 | AGL | c.2014T>A (p.Ser672Thr) n.2225T>A c.1966T>A (p.Ser656Thr) c.1963T>A (p.Ser655Thr) c.274T>A (p.Ser92Thr) | |
| 1 | g.99881304T>C | CA341318513 | AGL | c.2014T>C (p.Ser672Pro) n.2225T>C c.1966T>C (p.Ser656Pro) c.1963T>C (p.Ser655Pro) c.274T>C (p.Ser92Pro) | |
| 1 | g.99881304T>G | CA966677 | AGL | c.2014T>G (p.Ser672Ala) n.2225T>G c.1966T>G (p.Ser656Ala) c.1963T>G (p.Ser655Ala) c.274T>G (p.Ser92Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99881304T= | CA1183929275 | AGL | c.2014T= (p.Ser672=) n.2225T= c.1966T= (p.Ser656=) c.1963T= (p.Ser655=) c.274T= (p.Ser92=) | |
| 1 | g.99881305C>A | CA341318522 | AGL | c.2015C>A (p.Ser672Tyr) n.2226C>A c.1967C>A (p.Ser656Tyr) c.1964C>A (p.Ser655Tyr) c.275C>A (p.Ser92Tyr) | |
| 1 | g.99881305C>G | CA341318528 | AGL | c.2015C>G (p.Ser672Cys) n.2226C>G c.1967C>G (p.Ser656Cys) c.1964C>G (p.Ser655Cys) c.275C>G (p.Ser92Cys) | |
| 1 | g.99881305C>T | CA341318530 | AGL | c.2015C>T (p.Ser672Phe) n.2226C>T c.1967C>T (p.Ser656Phe) c.1964C>T (p.Ser655Phe) c.275C>T (p.Ser92Phe) | |
| 1 | g.99881306T>A | CA419314348 | AGL | c.2016T>A (p.Ser672=) n.2227T>A c.1968T>A (p.Ser656=) c.1965T>A (p.Ser655=) c.276T>A (p.Ser92=) | |
| 1 | g.99881306T>C | CA27516178 | AGL | c.2016T>C (p.Ser672=) n.2227T>C c.1968T>C (p.Ser656=) c.1965T>C (p.Ser655=) c.276T>C (p.Ser92=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.99881306T>G | CA419314349 | AGL | c.2016T>G (p.Ser672=) n.2227T>G c.1968T>G (p.Ser656=) c.1965T>G (p.Ser655=) c.276T>G (p.Ser92=) | |
| 1 | g.99881306T= | CA1183929276 | AGL | c.2016T= (p.Ser672=) n.2227T= c.1968T= (p.Ser656=) c.1965T= (p.Ser655=) c.276T= (p.Ser92=) | |
| 1 | g.99881307G>A | CA341318534 | AGL | c.2017G>A (p.Glu673Lys) n.2228G>A c.1969G>A (p.Glu657Lys) c.1966G>A (p.Glu656Lys) c.277G>A (p.Glu93Lys) | |
| 1 | g.99881307G>C | CA341318536 | AGL | c.2017G>C (p.Glu673Gln) n.2228G>C c.1969G>C (p.Glu657Gln) c.1966G>C (p.Glu656Gln) c.277G>C (p.Glu93Gln) | |
| 1 | g.99881307G>T | CA341318538 | AGL | c.2017G>T (p.Glu673Ter) n.2228G>T c.1969G>T (p.Glu657Ter) c.1966G>T (p.Glu656Ter) c.277G>T (p.Glu93Ter) | |
| 1 | g.99881308A>C | CA341318541 | AGL | c.2018A>C (p.Glu673Ala) n.2229A>C c.1970A>C (p.Glu657Ala) c.1967A>C (p.Glu656Ala) c.278A>C (p.Glu93Ala) | |
| 1 | g.99881308A>G | CA341318552 | AGL | c.2018A>G (p.Glu673Gly) n.2229A>G c.1970A>G (p.Glu657Gly) c.1967A>G (p.Glu656Gly) c.278A>G (p.Glu93Gly) | |
| 1 | g.99881308A>T | CA341318555 | AGL | c.2018A>T (p.Glu673Val) n.2229A>T c.1970A>T (p.Glu657Val) c.1967A>T (p.Glu656Val) c.278A>T (p.Glu93Val) | |
| 1 | g.99881309A>C | CA341318561 | AGL | c.2019A>C (p.Glu673Asp) n.2230A>C c.1971A>C (p.Glu657Asp) c.1968A>C (p.Glu656Asp) c.279A>C (p.Glu93Asp) | |
| 1 | g.99881309A>G | CA419314350 | AGL | c.2019A>G (p.Glu673=) n.2230A>G c.1971A>G (p.Glu657=) c.1968A>G (p.Glu656=) c.279A>G (p.Glu93=) | |
| 1 | g.99881309A>T | CA341318563 | AGL | c.2019A>T (p.Glu673Asp) n.2230A>T c.1971A>T (p.Glu657Asp) c.1968A>T (p.Glu656Asp) c.279A>T (p.Glu93Asp) | |
| 1 | g.99881310G>A | CA341318566 | AGL | c.2020G>A (p.Glu674Lys) n.2231G>A c.1972G>A (p.Glu658Lys) c.1969G>A (p.Glu657Lys) c.280G>A (p.Glu94Lys) | |
| 1 | g.99881310G>C | CA341318571 | AGL | c.2020G>C (p.Glu674Gln) n.2231G>C c.1972G>C (p.Glu658Gln) c.1969G>C (p.Glu657Gln) c.280G>C (p.Glu94Gln) | |
| 1 | g.99881310G>T | CA341318568 | AGL | c.2020G>T (p.Glu674Ter) n.2231G>T c.1972G>T (p.Glu658Ter) c.1969G>T (p.Glu657Ter) c.280G>T (p.Glu94Ter) | |
| 1 | g.99881311A= | CA1183929277 | AGL | c.2021A= (p.Glu674=) n.2232A= c.1973A= (p.Glu658=) c.1970A= (p.Glu657=) c.281A= (p.Glu94=) | |
| 1 | g.99881311A>C | CA341318574 | AGL | c.2021A>C (p.Glu674Ala) n.2232A>C c.1973A>C (p.Glu658Ala) c.1970A>C (p.Glu657Ala) c.281A>C (p.Glu94Ala) | dbSNP |
| 1 | g.99881311A>G | CA341318579 | AGL | c.2021A>G (p.Glu674Gly) n.2232A>G c.1973A>G (p.Glu658Gly) c.1970A>G (p.Glu657Gly) c.281A>G (p.Glu94Gly) | |
| 1 | g.99881311A>T | CA341318578 | AGL | c.2021A>T (p.Glu674Val) n.2232A>T c.1973A>T (p.Glu658Val) c.1970A>T (p.Glu657Val) c.281A>T (p.Glu94Val) | |
| 1 | g.99881311_99881321delinsAACGGTTTTAC | CA1183929278 | AGL | c.2021_2031delinsAACGGTTTTAC (p.Glu674=) n.2232_2242delinsAACGGTTTTAC c.1973_1983delinsAACGGTTTTAC (p.Glu658=) c.1970_1980delinsAACGGTTTTAC (p.Glu657=) c.281_291delinsAACGGTTTTAC (p.Glu94=) | |
| 1 | g.99881312A= | CA1183929279 | AGL | c.2022A= (p.Glu674=) n.2233A= c.1974A= (p.Glu658=) c.1971A= (p.Glu657=) c.282A= (p.Glu94=) | |
| 1 | g.99881312A>C | CA341318580 | AGL | c.2022A>C (p.Glu674Asp) n.2233A>C c.1974A>C (p.Glu658Asp) c.1971A>C (p.Glu657Asp) c.282A>C (p.Glu94Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99881312A>G | CA419314351 | AGL | c.2022A>G (p.Glu674=) n.2233A>G c.1974A>G (p.Glu658=) c.1971A>G (p.Glu657=) c.282A>G (p.Glu94=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99881312A>T | CA341318582 | AGL | c.2022A>T (p.Glu674Asp) n.2233A>T c.1974A>T (p.Glu658Asp) c.1971A>T (p.Glu657Asp) c.282A>T (p.Glu94Asp) | |
| 1 | g.99881314_99881323del | CA1139656249 | AGL | c.2024_2033del (p.Arg675LeufsTer?) n.2235_2244del c.1976_1985del (p.Arg659LeufsTer?) c.1973_1982del (p.Arg658LeufsTer?) c.284_293del (p.Arg95LeufsTer?) | ClinVar dbSNP gnomAD v4 |
| 1 | g.99881313C>A | CA419314352 | AGL | c.2023C>A (p.Arg675=) n.2234C>A c.1975C>A (p.Arg659=) c.1972C>A (p.Arg658=) c.283C>A (p.Arg95=) | |
| 1 | g.99881313C= | CA1183929280 | AGL | c.2023C= (p.Arg675=) n.2234C= c.1975C= (p.Arg659=) c.1972C= (p.Arg658=) c.283C= (p.Arg95=) | |
| 1 | g.99881313C>G | CA341318588 | AGL | c.2023C>G (p.Arg675Gly) n.2234C>G c.1975C>G (p.Arg659Gly) c.1972C>G (p.Arg658Gly) c.283C>G (p.Arg95Gly) |