| 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.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) | |
| 1 | g.99881313C>T | CA966678 | AGL | c.2023C>T (p.Arg675Trp) n.2234C>T c.1975C>T (p.Arg659Trp) c.1972C>T (p.Arg658Trp) c.283C>T (p.Arg95Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99881314G>A | CA966679 | AGL | c.2024G>A (p.Arg675Gln) n.2235G>A c.1976G>A (p.Arg659Gln) c.1973G>A (p.Arg658Gln) c.284G>A (p.Arg95Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99881314G>C | CA341318595 | AGL | c.2024G>C (p.Arg675Pro) n.2235G>C c.1976G>C (p.Arg659Pro) c.1973G>C (p.Arg658Pro) c.284G>C (p.Arg95Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.99881314G= | CA1183929281 | AGL | c.2024G= (p.Arg675=) n.2235G= c.1976G= (p.Arg659=) c.1973G= (p.Arg658=) c.284G= (p.Arg95=) | |
| 1 | g.99881314G>T | CA341318596 | AGL | c.2024G>T (p.Arg675Leu) n.2235G>T c.1976G>T (p.Arg659Leu) c.1973G>T (p.Arg658Leu) c.284G>T (p.Arg95Leu) | gnomAD v4 |
| 1 | g.99881315G>A | CA966680 | AGL | c.2025G>A (p.Arg675=) n.2236G>A c.1977G>A (p.Arg659=) c.1974G>A (p.Arg658=) c.285G>A (p.Arg95=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99881315G>C | CA419314354 | AGL | c.2025G>C (p.Arg675=) n.2236G>C c.1977G>C (p.Arg659=) c.1974G>C (p.Arg658=) c.285G>C (p.Arg95=) | ClinVar |
| 1 | g.99881315G= | CA1183929282 | AGL | c.2025G= (p.Arg675=) n.2236G= c.1977G= (p.Arg659=) c.1974G= (p.Arg658=) c.285G= (p.Arg95=) | |
| 1 | g.99881315G>T | CA419314355 | AGL | c.2025G>T (p.Arg675=) n.2236G>T c.1977G>T (p.Arg659=) c.1974G>T (p.Arg658=) c.285G>T (p.Arg95=) | ClinVar |
| 1 | g.99881316T>A | CA341318602 | AGL | c.2026T>A (p.Phe676Ile) n.2237T>A c.1978T>A (p.Phe660Ile) c.1975T>A (p.Phe659Ile) c.286T>A (p.Phe96Ile) | |
| 1 | g.99881316T>C | CA341318604 | AGL | c.2026T>C (p.Phe676Leu) n.2237T>C c.1978T>C (p.Phe660Leu) c.1975T>C (p.Phe659Leu) c.286T>C (p.Phe96Leu) | |
| 1 | g.99881316T>G | CA341318609 | AGL | c.2026T>G (p.Phe676Val) n.2237T>G c.1978T>G (p.Phe660Val) c.1975T>G (p.Phe659Val) c.286T>G (p.Phe96Val) | |
| 1 | g.99881317T>A | CA341318615 | AGL | c.2027T>A (p.Phe676Tyr) n.2238T>A c.1979T>A (p.Phe660Tyr) c.1976T>A (p.Phe659Tyr) c.287T>A (p.Phe96Tyr) | |
| 1 | g.99881317T>C | CA341318611 | AGL | c.2027T>C (p.Phe676Ser) n.2238T>C c.1979T>C (p.Phe660Ser) c.1976T>C (p.Phe659Ser) c.287T>C (p.Phe96Ser) | |
| 1 | g.99881317T>G | CA341318614 | AGL | c.2027T>G (p.Phe676Cys) n.2238T>G c.1979T>G (p.Phe660Cys) c.1976T>G (p.Phe659Cys) c.287T>G (p.Phe96Cys) | |
| 1 | g.99881318T>A | CA341318619 | AGL | c.2028T>A (p.Phe676Leu) n.2239T>A c.1980T>A (p.Phe660Leu) c.1977T>A (p.Phe659Leu) c.288T>A (p.Phe96Leu) | |
| 1 | g.99881318T>C | CA419314356 | AGL | c.2028T>C (p.Phe676=) n.2239T>C c.1980T>C (p.Phe660=) c.1977T>C (p.Phe659=) c.288T>C (p.Phe96=) | |
| 1 | g.99881318T>G | CA341318622 | AGL | c.2028T>G (p.Phe676Leu) n.2239T>G c.1980T>G (p.Phe660Leu) c.1977T>G (p.Phe659Leu) c.288T>G (p.Phe96Leu) | |
| 1 | g.99881319T>A | CA341318625 | AGL | c.2029T>A (p.Tyr677Asn) n.2240T>A c.1981T>A (p.Tyr661Asn) c.1978T>A (p.Tyr660Asn) c.289T>A (p.Tyr97Asn) | |
| 1 | g.99881319T>C | CA341318626 | AGL | c.2029T>C (p.Tyr677His) n.2240T>C c.1981T>C (p.Tyr661His) c.1978T>C (p.Tyr660His) c.289T>C (p.Tyr97His) | |
| 1 | g.99881319T>G | CA341318627 | AGL | c.2029T>G (p.Tyr677Asp) n.2240T>G c.1981T>G (p.Tyr661Asp) c.1978T>G (p.Tyr660Asp) c.289T>G (p.Tyr97Asp) | |
| 1 | g.99881320A>C | CA341318628 | AGL | c.2030A>C (p.Tyr677Ser) n.2241A>C c.1982A>C (p.Tyr661Ser) c.1979A>C (p.Tyr660Ser) c.290A>C (p.Tyr97Ser) | |
| 1 | g.99881320A>G | CA341318629 | AGL | c.2030A>G (p.Tyr677Cys) n.2241A>G c.1982A>G (p.Tyr661Cys) c.1979A>G (p.Tyr660Cys) c.290A>G (p.Tyr97Cys) | |
| 1 | g.99881320A>T | CA341318631 | AGL | c.2030A>T (p.Tyr677Phe) n.2241A>T c.1982A>T (p.Tyr661Phe) c.1979A>T (p.Tyr660Phe) c.290A>T (p.Tyr97Phe) | |
| 1 | g.99881321C>A | CA341318633 | AGL | c.2031C>A (p.Tyr677Ter) n.2242C>A c.1983C>A (p.Tyr661Ter) c.1980C>A (p.Tyr660Ter) c.291C>A (p.Tyr97Ter) | |
| 1 | g.99881321C= | CA1183929283 | AGL | c.2031C= (p.Tyr677=) n.2242C= c.1983C= (p.Tyr661=) c.1980C= (p.Tyr660=) c.291C= (p.Tyr97=) | |
| 1 | g.99881321C>G | CA341318637 | AGL | c.2031C>G (p.Tyr677Ter) n.2242C>G c.1983C>G (p.Tyr661Ter) c.1980C>G (p.Tyr660Ter) c.291C>G (p.Tyr97Ter) | |
| 1 | g.99881321C>T | CA419314357 | AGL | c.2031C>T (p.Tyr677=) n.2242C>T c.1983C>T (p.Tyr661=) c.1980C>T (p.Tyr660=) c.291C>T (p.Tyr97=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.99881322A= | CA1183929284 | AGL | c.2032A= (p.Thr678=) n.2243A= c.1984A= (p.Thr662=) c.1981A= (p.Thr661=) c.292A= (p.Thr98=) | |
| 1 | g.99881322A>C | CA341318643 | AGL | c.2032A>C (p.Thr678Pro) n.2243A>C c.1984A>C (p.Thr662Pro) c.1981A>C (p.Thr661Pro) c.292A>C (p.Thr98Pro) | gnomAD v4 |
| 1 | g.99881322A>G | CA966681 | AGL | c.2032A>G (p.Thr678Ala) n.2243A>G c.1984A>G (p.Thr662Ala) c.1981A>G (p.Thr661Ala) c.292A>G (p.Thr98Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.99881322A>T | CA341318640 | AGL | c.2032A>T (p.Thr678Ser) n.2243A>T c.1984A>T (p.Thr662Ser) c.1981A>T (p.Thr661Ser) c.292A>T (p.Thr98Ser) | gnomAD v4 |
| 1 | g.99881323C>A | CA341318651 | AGL | c.2033C>A (p.Thr678Asn) n.2244C>A c.1985C>A (p.Thr662Asn) c.1982C>A (p.Thr661Asn) c.293C>A (p.Thr98Asn) | |
| 1 | g.99881323C= | CA1183929285 | AGL | c.2033C= (p.Thr678=) n.2244C= c.1985C= (p.Thr662=) c.1982C= (p.Thr661=) c.293C= (p.Thr98=) | |
| 1 | g.99881323C>G | CA341318654 | AGL | c.2033C>G (p.Thr678Ser) n.2244C>G c.1985C>G (p.Thr662Ser) c.1982C>G (p.Thr661Ser) c.293C>G (p.Thr98Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.99881323C>T | CA341318656 | AGL | c.2033C>T (p.Thr678Ile) n.2244C>T c.1985C>T (p.Thr662Ile) c.1982C>T (p.Thr661Ile) c.293C>T (p.Thr98Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.99881324del | CA2695198088 | AGL | c.2034del (p.Lys679SerfsTer?) n.2245del c.1986del (p.Lys663SerfsTer?) c.1983del (p.Lys662SerfsTer?) c.294del (p.Lys99SerfsTer?) | ClinVar |
| 1 | g.99881324T>A | CA419314358 | AGL | c.2034T>A (p.Thr678=) n.2245T>A c.1986T>A (p.Thr662=) c.1983T>A (p.Thr661=) c.294T>A (p.Thr98=) | |
| 1 | g.99881324T>C | CA419314359 | AGL | c.2034T>C (p.Thr678=) n.2245T>C c.1986T>C (p.Thr662=) c.1983T>C (p.Thr661=) c.294T>C (p.Thr98=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99881324T>G | CA419314360 | AGL | c.2034T>G (p.Thr678=) n.2245T>G c.1986T>G (p.Thr662=) c.1983T>G (p.Thr661=) c.294T>G (p.Thr98=) | |
| 1 | g.99881324T= | CA1183929286 | AGL | c.2034T= (p.Thr678=) n.2245T= c.1986T= (p.Thr662=) c.1983T= (p.Thr661=) c.294T= (p.Thr98=) | |
| 1 | g.99881325A>C | CA341318657 | AGL | c.2035A>C (p.Lys679Gln) n.2246A>C c.1987A>C (p.Lys663Gln) c.1984A>C (p.Lys662Gln) c.295A>C (p.Lys99Gln) | |
| 1 | g.99881325A>G | CA341318659 | AGL | c.2035A>G (p.Lys679Glu) n.2246A>G c.1987A>G (p.Lys663Glu) c.1984A>G (p.Lys662Glu) c.295A>G (p.Lys99Glu) | gnomAD v4 |
| 1 | g.99881325A>T | CA341318661 | AGL | c.2035A>T (p.Lys679Ter) n.2246A>T c.1987A>T (p.Lys663Ter) c.1984A>T (p.Lys662Ter) c.295A>T (p.Lys99Ter) | |
| 1 | g.99881326del | CA2573131986 | AGL | c.2036del (p.Lys679SerfsTer?) n.2247del c.1988del (p.Lys663SerfsTer?) c.1985del (p.Lys662SerfsTer?) c.296del (p.Lys99SerfsTer?) | ClinVar dbSNP |
| 1 | g.99881326A>C | CA341318669 | AGL | c.2036A>C (p.Lys679Thr) n.2247A>C c.1988A>C (p.Lys663Thr) c.1985A>C (p.Lys662Thr) c.296A>C (p.Lys99Thr) | |
| 1 | g.99881326A>G | CA341318664 | AGL | c.2036A>G (p.Lys679Arg) n.2247A>G c.1988A>G (p.Lys663Arg) c.1985A>G (p.Lys662Arg) c.296A>G (p.Lys99Arg) | gnomAD v4 |
| 1 | g.99881326A>T | CA341318666 | AGL | c.2036A>T (p.Lys679Met) n.2247A>T c.1988A>T (p.Lys663Met) c.1985A>T (p.Lys662Met) c.296A>T (p.Lys99Met) | |
| 1 | g.99881327G>A | CA419314361 | AGL | c.2037G>A (p.Lys679=) n.2248G>A c.1989G>A (p.Lys663=) c.1986G>A (p.Lys662=) c.297G>A (p.Lys99=) | |
| 1 | g.99881327G>C | CA341318671 | AGL | c.2037G>C (p.Lys679Asn) n.2248G>C c.1989G>C (p.Lys663Asn) c.1986G>C (p.Lys662Asn) c.297G>C (p.Lys99Asn) | |
| 1 | g.99881327G= | CA1183929287 | AGL | c.2037G= (p.Lys679=) n.2248G= c.1989G= (p.Lys663=) c.1986G= (p.Lys662=) c.297G= (p.Lys99=) | |
| 1 | g.99881327G>T | CA341318678 | AGL | c.2037G>T (p.Lys679Asn) n.2248G>T c.1989G>T (p.Lys663Asn) c.1986G>T (p.Lys662Asn) c.297G>T (p.Lys99Asn) | dbSNP gnomAD v4 |
| 1 | g.99881328T>A | CA341318685 | AGL | c.2038T>A (p.Trp680Arg) n.2249T>A c.1990T>A (p.Trp664Arg) c.1987T>A (p.Trp663Arg) c.298T>A (p.Trp100Arg) | |
| 1 | g.99881328T>C | CA341318687 | AGL | c.2038T>C (p.Trp680Arg) n.2249T>C c.1990T>C (p.Trp664Arg) c.1987T>C (p.Trp663Arg) c.298T>C (p.Trp100Arg) | |
| 1 | g.99881328T>G | CA341318690 | AGL | c.2038T>G (p.Trp680Gly) n.2249T>G c.1990T>G (p.Trp664Gly) c.1987T>G (p.Trp663Gly) c.298T>G (p.Trp100Gly) | |
| 1 | g.99881329G>A | CA114755 | AGL | c.2039G>A (p.Trp680Ter) n.2250G>A c.1991G>A (p.Trp664Ter) c.1988G>A (p.Trp663Ter) c.299G>A (p.Trp100Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99881329G>C | CA341318700 | AGL | c.2039G>C (p.Trp680Ser) n.2250G>C c.1991G>C (p.Trp664Ser) c.1988G>C (p.Trp663Ser) c.299G>C (p.Trp100Ser) | |
| 1 | g.99881329G= | CA1141373047 | AGL | c.2039G= (p.Trp680=) n.2250G= c.1991G= (p.Trp664=) c.1988G= (p.Trp663=) c.299G= (p.Trp100=) | |
| 1 | g.99881329G>T | CA341318698 | AGL | c.2039G>T (p.Trp680Leu) n.2250G>T c.1991G>T (p.Trp664Leu) c.1988G>T (p.Trp663Leu) c.299G>T (p.Trp100Leu) | |
| 1 | g.99881330G>A | CA341318709 | AGL | c.2040G>A (p.Trp680Ter) n.2251G>A c.1992G>A (p.Trp664Ter) c.1989G>A (p.Trp663Ter) c.300G>A (p.Trp100Ter) | gnomAD v4 |
| 1 | g.99881330G>C | CA341318713 | AGL | c.2040G>C (p.Trp680Cys) n.2251G>C c.1992G>C (p.Trp664Cys) c.1989G>C (p.Trp663Cys) c.300G>C (p.Trp100Cys) | |
| 1 | g.99881330G= | CA1183929288 | AGL | c.2040G= (p.Trp680=) n.2251G= c.1992G= (p.Trp664=) c.1989G= (p.Trp663=) c.300G= (p.Trp100=) | |
| 1 | g.99881330G>T | CA966682 | AGL | c.2040G>T (p.Trp680Cys) n.2251G>T c.1992G>T (p.Trp664Cys) c.1989G>T (p.Trp663Cys) c.300G>T (p.Trp100Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99881331A>C | CA341318716 | AGL | c.2041A>C (p.Asn681His) n.2252A>C c.1993A>C (p.Asn665His) c.1990A>C (p.Asn664His) c.301A>C (p.Asn101His) | |
| 1 | g.99881331A>G | CA341318717 | AGL | c.2041A>G (p.Asn681Asp) n.2252A>G c.1993A>G (p.Asn665Asp) c.1990A>G (p.Asn664Asp) c.301A>G (p.Asn101Asp) | |
| 1 | g.99881331A>T | CA341318720 | AGL | c.2041A>T (p.Asn681Tyr) n.2252A>T c.1993A>T (p.Asn665Tyr) c.1990A>T (p.Asn664Tyr) c.301A>T (p.Asn101Tyr) | |
| 1 | g.99881332A>C | CA341318723 | AGL | c.2042A>C (p.Asn681Thr) n.2253A>C c.1994A>C (p.Asn665Thr) c.1991A>C (p.Asn664Thr) c.302A>C (p.Asn101Thr) | |
| 1 | g.99881332A>G | CA341318729 | AGL | c.2042A>G (p.Asn681Ser) n.2253A>G c.1994A>G (p.Asn665Ser) c.1991A>G (p.Asn664Ser) c.302A>G (p.Asn101Ser) | |
| 1 | g.99881332A>T | CA341318735 | AGL | c.2042A>T (p.Asn681Ile) n.2253A>T c.1994A>T (p.Asn665Ile) c.1991A>T (p.Asn664Ile) c.302A>T (p.Asn101Ile) | |
| 1 | g.99881333T>A | CA341318737 | AGL | c.2043T>A (p.Asn681Lys) n.2254T>A c.1995T>A (p.Asn665Lys) c.1992T>A (p.Asn664Lys) c.303T>A (p.Asn101Lys) | |
| 1 | g.99881333T>C | CA419314362 | AGL | c.2043T>C (p.Asn681=) n.2254T>C c.1995T>C (p.Asn665=) c.1992T>C (p.Asn664=) c.303T>C (p.Asn101=) | |
| 1 | g.99881333T>G | CA341318739 | AGL | c.2043T>G (p.Asn681Lys) n.2254T>G c.1995T>G (p.Asn665Lys) c.1992T>G (p.Asn664Lys) c.303T>G (p.Asn101Lys) | |
| 1 | g.99881334C>A | CA341318750 | AGL | c.2044C>A (p.Pro682Thr) n.2255C>A c.1996C>A (p.Pro666Thr) c.1993C>A (p.Pro665Thr) c.304C>A (p.Pro102Thr) | |
| 1 | g.99881334C>G | CA341318748 | AGL | c.2044C>G (p.Pro682Ala) n.2255C>G c.1996C>G (p.Pro666Ala) c.1993C>G (p.Pro665Ala) c.304C>G (p.Pro102Ala) | |
| 1 | g.99881334C>T | CA341318742 | AGL | c.2044C>T (p.Pro682Ser) n.2255C>T c.1996C>T (p.Pro666Ser) c.1993C>T (p.Pro665Ser) c.304C>T (p.Pro102Ser) | |
| 1 | g.99881335C>A | CA341318755 | AGL | c.2045C>A (p.Pro682His) n.2256C>A c.1997C>A (p.Pro666His) c.1994C>A (p.Pro665His) c.305C>A (p.Pro102His) | |
| 1 | g.99881335C>G | CA341318760 | AGL | c.2045C>G (p.Pro682Arg) n.2256C>G c.1997C>G (p.Pro666Arg) c.1994C>G (p.Pro665Arg) c.305C>G (p.Pro102Arg) | |
| 1 | g.99881335C>T | CA341318757 | AGL | c.2045C>T (p.Pro682Leu) n.2256C>T c.1997C>T (p.Pro666Leu) c.1994C>T (p.Pro665Leu) c.305C>T (p.Pro102Leu) | gnomAD v4 |
| 1 | g.99881336T>A | CA419314363 | AGL | c.2046T>A (p.Pro682=) n.2257T>A c.1998T>A (p.Pro666=) c.1995T>A (p.Pro665=) c.306T>A (p.Pro102=) | |
| 1 | g.99881336T>C | CA419314364 | AGL | c.2046T>C (p.Pro682=) n.2257T>C c.1998T>C (p.Pro666=) c.1995T>C (p.Pro665=) c.306T>C (p.Pro102=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.99881336T>G | CA419314365 | AGL | c.2046T>G (p.Pro682=) n.2257T>G c.1998T>G (p.Pro666=) c.1995T>G (p.Pro665=) c.306T>G (p.Pro102=) | |
| 1 | g.99881336T= | CA1183929289 | AGL | c.2046T= (p.Pro682=) n.2257T= c.1998T= (p.Pro666=) c.1995T= (p.Pro665=) c.306T= (p.Pro102=) | |
| 1 | g.99881337G>A | CA341318763 | AGL | c.2047G>A (p.Glu683Lys) n.2258G>A c.1999G>A (p.Glu667Lys) c.1996G>A (p.Glu666Lys) c.307G>A (p.Glu103Lys) | |
| 1 | g.99881337G>C | CA341318768 | AGL | c.2047G>C (p.Glu683Gln) n.2258G>C c.1999G>C (p.Glu667Gln) c.1996G>C (p.Glu666Gln) c.307G>C (p.Glu103Gln) | |
| 1 | g.99881337G>T | CA341318766 | AGL | c.2047G>T (p.Glu683Ter) n.2258G>T c.1999G>T (p.Glu667Ter) c.1996G>T (p.Glu666Ter) c.307G>T (p.Glu103Ter) | |
| 1 | g.99881338A>C | CA341318772 | AGL | c.2048A>C (p.Glu683Ala) n.2259A>C c.2000A>C (p.Glu667Ala) c.1997A>C (p.Glu666Ala) c.308A>C (p.Glu103Ala) | |
| 1 | g.99881338A>G | CA341318775 | AGL | c.2048A>G (p.Glu683Gly) n.2259A>G c.2000A>G (p.Glu667Gly) c.1997A>G (p.Glu666Gly) c.308A>G (p.Glu103Gly) | |
| 1 | g.99881338A>T | CA341318776 | AGL | c.2048A>T (p.Glu683Val) n.2259A>T c.2000A>T (p.Glu667Val) c.1997A>T (p.Glu666Val) c.308A>T (p.Glu103Val) | gnomAD v4 |
| 1 | g.99881339A= | CA1183929290 | AGL | c.2049A= (p.Glu683=) n.2260A= c.2001A= (p.Glu667=) c.1998A= (p.Glu666=) c.309A= (p.Glu103=) | |
| 1 | g.99881339A>C | CA341318777 | AGL | c.2049A>C (p.Glu683Asp) n.2260A>C c.2001A>C (p.Glu667Asp) c.1998A>C (p.Glu666Asp) c.309A>C (p.Glu103Asp) | |
| 1 | g.99881339A>G | CA27516206 | AGL | c.2049A>G (p.Glu683=) n.2260A>G c.2001A>G (p.Glu667=) c.1998A>G (p.Glu666=) c.309A>G (p.Glu103=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99881339A>T | CA341318778 | AGL | c.2049A>T (p.Glu683Asp) n.2260A>T c.2001A>T (p.Glu667Asp) c.1998A>T (p.Glu666Asp) c.309A>T (p.Glu103Asp) | dbSNP gnomAD v4 |
| 1 | g.99881340G>A | CA341318779 | AGL | c.2050G>A (p.Ala684Thr) n.2261G>A c.2002G>A (p.Ala668Thr) c.1999G>A (p.Ala667Thr) c.310G>A (p.Ala104Thr) | dbSNP gnomAD v4 |
| 1 | g.99881340G>C | CA341318780 | AGL | c.2050G>C (p.Ala684Pro) n.2261G>C c.2002G>C (p.Ala668Pro) c.1999G>C (p.Ala667Pro) c.310G>C (p.Ala104Pro) | |
| 1 | g.99881340G= | CA1183929291 | AGL | c.2050G= (p.Ala684=) n.2261G= c.2002G= (p.Ala668=) c.1999G= (p.Ala667=) c.310G= (p.Ala104=) | |
| 1 | g.99881340G>T | CA341318781 | AGL | c.2050G>T (p.Ala684Ser) n.2261G>T c.2002G>T (p.Ala668Ser) c.1999G>T (p.Ala667Ser) c.310G>T (p.Ala104Ser) | |
| 1 | g.99881341C>A | CA341318782 | AGL | c.2051C>A (p.Ala684Glu) n.2262C>A c.2003C>A (p.Ala668Glu) c.2000C>A (p.Ala667Glu) c.311C>A (p.Ala104Glu) | gnomAD v4 |
| 1 | g.99881341C= | CA1183929292 | AGL | c.2051C= (p.Ala684=) n.2262C= c.2003C= (p.Ala668=) c.2000C= (p.Ala667=) c.311C= (p.Ala104=) | |
| 1 | g.99881341C>G | CA341318783 | AGL | c.2051C>G (p.Ala684Gly) n.2262C>G c.2003C>G (p.Ala668Gly) c.2000C>G (p.Ala667Gly) c.311C>G (p.Ala104Gly) | |
| 1 | g.99881341C>T | CA341318784 | AGL | c.2051C>T (p.Ala684Val) n.2262C>T c.2003C>T (p.Ala668Val) c.2000C>T (p.Ala667Val) c.311C>T (p.Ala104Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.99881342A>C | CA419314368 | AGL | c.2052A>C (p.Ala684=) n.2263A>C c.2004A>C (p.Ala668=) c.2001A>C (p.Ala667=) c.312A>C (p.Ala104=) | |
| 1 | g.99881342A>G | CA419314367 | AGL | c.2052A>G (p.Ala684=) n.2263A>G c.2004A>G (p.Ala668=) c.2001A>G (p.Ala667=) c.312A>G (p.Ala104=) | gnomAD v4 |
| 1 | g.99881342A>T | CA419314366 | AGL | c.2052A>T (p.Ala684=) n.2263A>T c.2004A>T (p.Ala668=) c.2001A>T (p.Ala667=) c.312A>T (p.Ala104=) | |
| 1 | g.99881343T>A | CA341318792 | AGL | c.2053T>A (p.Leu685Met) n.2264T>A c.2005T>A (p.Leu669Met) c.2002T>A (p.Leu668Met) c.313T>A (p.Leu105Met) | |
| 1 | g.99881343T>C | CA419314369 | AGL | c.2053T>C (p.Leu685=) n.2264T>C c.2005T>C (p.Leu669=) c.2002T>C (p.Leu668=) c.313T>C (p.Leu105=) | |
| 1 | g.99881343T>G | CA966683 | AGL | c.2053T>G (p.Leu685Val) n.2264T>G c.2005T>G (p.Leu669Val) c.2002T>G (p.Leu668Val) c.313T>G (p.Leu105Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99881343T= | CA1183929293 | AGL | c.2053T= (p.Leu685=) n.2264T= c.2005T= (p.Leu669=) c.2002T= (p.Leu668=) c.313T= (p.Leu105=) | |
| 1 | g.99881344T>A | CA341318796 | AGL | c.2054T>A (p.Leu685Ter) n.2265T>A c.2006T>A (p.Leu669Ter) c.2003T>A (p.Leu668Ter) c.314T>A (p.Leu105Ter) | |
| 1 | g.99881344T>C | CA341318797 | AGL | c.2054T>C (p.Leu685Ser) n.2265T>C c.2006T>C (p.Leu669Ser) c.2003T>C (p.Leu668Ser) c.314T>C (p.Leu105Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99881344T>G | CA341318800 | AGL | c.2054T>G (p.Leu685Trp) n.2265T>G c.2006T>G (p.Leu669Trp) c.2003T>G (p.Leu668Trp) c.314T>G (p.Leu105Trp) | gnomAD v4 |
| 1 | g.99881344T= | CA1183929294 | AGL | c.2054T= (p.Leu685=) n.2265T= c.2006T= (p.Leu669=) c.2003T= (p.Leu668=) c.314T= (p.Leu105=) | |
| 1 | g.99881345G>A | CA419314370 | AGL | c.2055G>A (p.Leu685=) n.2266G>A c.2007G>A (p.Leu669=) c.2004G>A (p.Leu668=) c.315G>A (p.Leu105=) | |
| 1 | g.99881345G>C | CA341318802 | AGL | c.2055G>C (p.Leu685Phe) n.2266G>C c.2007G>C (p.Leu669Phe) c.2004G>C (p.Leu668Phe) c.315G>C (p.Leu105Phe) | |
| 1 | g.99881345G>T | CA341318804 | AGL | c.2055G>T (p.Leu685Phe) n.2266G>T c.2007G>T (p.Leu669Phe) c.2004G>T (p.Leu668Phe) c.315G>T (p.Leu105Phe) | |
| 1 | g.99881346C>A | CA341318809 | AGL | c.2056C>A (p.Pro686Thr) n.2267C>A c.2008C>A (p.Pro670Thr) c.2005C>A (p.Pro669Thr) c.316C>A (p.Pro106Thr) | gnomAD v4 COSMIC COSMIC |
| 1 | g.99881346C>G | CA341318813 | AGL | c.2056C>G (p.Pro686Ala) n.2267C>G c.2008C>G (p.Pro670Ala) c.2005C>G (p.Pro669Ala) c.316C>G (p.Pro106Ala) | |
| 1 | g.99881346C>T | CA341318815 | AGL | c.2056C>T (p.Pro686Ser) n.2267C>T c.2008C>T (p.Pro670Ser) c.2005C>T (p.Pro669Ser) c.316C>T (p.Pro106Ser) | COSMIC |
| 1 | g.99881347C>A | CA341318822 | AGL | c.2057C>A (p.Pro686His) n.2268C>A c.2009C>A (p.Pro670His) c.2006C>A (p.Pro669His) c.317C>A (p.Pro106His) | |
| 1 | g.99881347C= | CA1183929295 | AGL | c.2057C= (p.Pro686=) n.2268C= c.2009C= (p.Pro670=) c.2006C= (p.Pro669=) c.317C= (p.Pro106=) | |
| 1 | g.99881347C>G | CA341318823 | AGL | c.2057C>G (p.Pro686Arg) n.2268C>G c.2009C>G (p.Pro670Arg) c.2006C>G (p.Pro669Arg) c.317C>G (p.Pro106Arg) | |
| 1 | g.99881347C>T | CA341318824 | AGL | c.2057C>T (p.Pro686Leu) n.2268C>T c.2009C>T (p.Pro670Leu) c.2006C>T (p.Pro669Leu) c.317C>T (p.Pro106Leu) | dbSNP gnomAD v4 |
| 1 | g.99881348T>A | CA419314371 | AGL | c.2058T>A (p.Pro686=) n.2269T>A c.2010T>A (p.Pro670=) c.2007T>A (p.Pro669=) c.318T>A (p.Pro106=) | |
| 1 | g.99881348T>C | CA419314373 | AGL | c.2058T>C (p.Pro686=) n.2269T>C c.2010T>C (p.Pro670=) c.2007T>C (p.Pro669=) c.318T>C (p.Pro106=) | |
| 1 | g.99881348T>G | CA419314372 | AGL | c.2058T>G (p.Pro686=) n.2269T>G c.2010T>G (p.Pro670=) c.2007T>G (p.Pro669=) c.318T>G (p.Pro106=) | |
| 1 | g.99881349T>A | CA966685 | AGL | c.2059T>A (p.Ser687Thr) n.2270T>A c.2011T>A (p.Ser671Thr) c.2008T>A (p.Ser670Thr) c.319T>A (p.Ser107Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99881349T>C | CA341318827 | AGL | c.2059T>C (p.Ser687Pro) n.2270T>C c.2011T>C (p.Ser671Pro) c.2008T>C (p.Ser670Pro) c.319T>C (p.Ser107Pro) | |
| 1 | g.99881349T>G | CA966684 | AGL | c.2059T>G (p.Ser687Ala) n.2270T>G c.2011T>G (p.Ser671Ala) c.2008T>G (p.Ser670Ala) c.319T>G (p.Ser107Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.99881349T= | CA1148066158 | AGL | c.2059T= (p.Ser687=) n.2270T= c.2011T= (p.Ser671=) c.2008T= (p.Ser670=) c.319T= (p.Ser107=) | |
| 1 | g.99881350C>A | CA341318837 | AGL | c.2060C>A (p.Ser687Ter) n.2271C>A c.2012C>A (p.Ser671Ter) c.2009C>A (p.Ser670Ter) c.320C>A (p.Ser107Ter) | |
| 1 | g.99881350C>G | CA341318839 | AGL | c.2060C>G (p.Ser687Ter) n.2271C>G c.2012C>G (p.Ser671Ter) c.2009C>G (p.Ser670Ter) c.320C>G (p.Ser107Ter) | |
| 1 | g.99881350C>T | CA341318840 | AGL | c.2060C>T (p.Ser687Leu) n.2271C>T c.2012C>T (p.Ser671Leu) c.2009C>T (p.Ser670Leu) c.320C>T (p.Ser107Leu) | |
| 1 | g.99881352_99881355del | CA2580063404 | AGL | c.2062_2065del (p.Asn688GlnfsTer?) n.2273_2276del c.2014_2017del (p.Asn672GlnfsTer?) c.2011_2014del (p.Asn671GlnfsTer?) c.322_325del (p.Asn108GlnfsTer?) | ClinVar |
| 1 | g.99881351A>C | CA419314374 | AGL | c.2061A>C (p.Ser687=) n.2272A>C c.2013A>C (p.Ser671=) c.2010A>C (p.Ser670=) c.321A>C (p.Ser107=) | |
| 1 | g.99881351A>G | CA419314375 | AGL | c.2061A>G (p.Ser687=) n.2272A>G c.2013A>G (p.Ser671=) c.2010A>G (p.Ser670=) c.321A>G (p.Ser107=) | |
| 1 | g.99881351A>T | CA419314376 | AGL | c.2061A>T (p.Ser687=) n.2272A>T c.2013A>T (p.Ser671=) c.2010A>T (p.Ser670=) c.321A>T (p.Ser107=) | |
| 1 | g.99881352A>C | CA341318841 | AGL | c.2062A>C (p.Asn688His) n.2273A>C c.2014A>C (p.Asn672His) c.2011A>C (p.Asn671His) c.322A>C (p.Asn108His) | |
| 1 | g.99881352A>G | CA341318842 | AGL | c.2062A>G (p.Asn688Asp) n.2273A>G c.2014A>G (p.Asn672Asp) c.2011A>G (p.Asn671Asp) c.322A>G (p.Asn108Asp) | |
| 1 | g.99881352A>T | CA341318843 | AGL | c.2062A>T (p.Asn688Tyr) n.2273A>T c.2014A>T (p.Asn672Tyr) c.2011A>T (p.Asn671Tyr) c.322A>T (p.Asn108Tyr) | |
| 1 | g.99881353A>C | CA341318854 | AGL | c.2063A>C (p.Asn688Thr) n.2274A>C c.2015A>C (p.Asn672Thr) c.2012A>C (p.Asn671Thr) c.323A>C (p.Asn108Thr) | |
| 1 | g.99881353A>G | CA341318844 | AGL | c.2063A>G (p.Asn688Ser) n.2274A>G c.2015A>G (p.Asn672Ser) c.2012A>G (p.Asn671Ser) c.323A>G (p.Asn108Ser) | gnomAD v4 |
| 1 | g.99881353A>T | CA341318845 | AGL | c.2063A>T (p.Asn688Ile) n.2274A>T c.2015A>T (p.Asn672Ile) c.2012A>T (p.Asn671Ile) c.323A>T (p.Asn108Ile) | |
| 1 | g.99881354C>A | CA341318866 | AGL | c.2064C>A (p.Asn688Lys) n.2275C>A c.2016C>A (p.Asn672Lys) c.2013C>A (p.Asn671Lys) c.324C>A (p.Asn108Lys) | |
| 1 | g.99881354C= | CA1183929296 | AGL | c.2064C= (p.Asn688=) n.2275C= c.2016C= (p.Asn672=) c.2013C= (p.Asn671=) c.324C= (p.Asn108=) | |
| 1 | g.99881354C>G | CA341318868 | AGL | c.2064C>G (p.Asn688Lys) n.2275C>G c.2016C>G (p.Asn672Lys) c.2013C>G (p.Asn671Lys) c.324C>G (p.Asn108Lys) | |
| 1 | g.99881354C>T | CA419314377 | AGL | c.2064C>T (p.Asn688=) n.2275C>T c.2016C>T (p.Asn672=) c.2013C>T (p.Asn671=) c.324C>T (p.Asn108=) | dbSNP |
| 1 | g.99881355A>C | CA341318871 | AGL | c.2065A>C (p.Thr689Pro) n.2276A>C c.2017A>C (p.Thr673Pro) c.2014A>C (p.Thr672Pro) c.325A>C (p.Thr109Pro) | |
| 1 | g.99881355A>G | CA341318876 | AGL | c.2065A>G (p.Thr689Ala) n.2276A>G c.2017A>G (p.Thr673Ala) c.2014A>G (p.Thr672Ala) c.325A>G (p.Thr109Ala) | |
| 1 | g.99881355A>T | CA341318880 | AGL | c.2065A>T (p.Thr689Ser) n.2276A>T c.2017A>T (p.Thr673Ser) c.2014A>T (p.Thr672Ser) c.325A>T (p.Thr109Ser) | |
| 1 | g.99881356C>A | CA341318885 | AGL | c.2066C>A (p.Thr689Lys) n.2277C>A c.2018C>A (p.Thr673Lys) c.2015C>A (p.Thr672Lys) c.326C>A (p.Thr109Lys) | |
| 1 | g.99881356C>G | CA341318892 | AGL | c.2066C>G (p.Thr689Arg) n.2277C>G c.2018C>G (p.Thr673Arg) c.2015C>G (p.Thr672Arg) c.326C>G (p.Thr109Arg) | |
| 1 | g.99881356C>T | CA341318888 | AGL | c.2066C>T (p.Thr689Ile) n.2277C>T c.2018C>T (p.Thr673Ile) c.2015C>T (p.Thr672Ile) c.326C>T (p.Thr109Ile) | |
| 1 | g.99881357A>C | CA419314378 | AGL | c.2067A>C (p.Thr689=) n.2278A>C c.2019A>C (p.Thr673=) c.2016A>C (p.Thr672=) c.327A>C (p.Thr109=) | ClinVar gnomAD v4 |
| 1 | g.99881357A>G | CA419314379 | AGL | c.2067A>G (p.Thr689=) n.2278A>G c.2019A>G (p.Thr673=) c.2016A>G (p.Thr672=) c.327A>G (p.Thr109=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.99881357A>T | CA419314380 | AGL | c.2067A>T (p.Thr689=) n.2278A>T c.2019A>T (p.Thr673=) c.2016A>T (p.Thr672=) c.327A>T (p.Thr109=) | |
| 1 | g.99881358G>A | CA341318896 | AGL | c.2068G>A (p.Gly690Ser) n.2279G>A c.2020G>A (p.Gly674Ser) c.2017G>A (p.Gly673Ser) c.328G>A (p.Gly110Ser) | gnomAD v4 |
| 1 | g.99881358G>C | CA341318899 | AGL | c.2068G>C (p.Gly690Arg) n.2279G>C c.2020G>C (p.Gly674Arg) c.2017G>C (p.Gly673Arg) c.328G>C (p.Gly110Arg) | |
| 1 | g.99881358G= | CA1183929297 | AGL | c.2068G= (p.Gly690=) n.2279G= c.2020G= (p.Gly674=) c.2017G= (p.Gly673=) c.328G= (p.Gly110=) | |
| 1 | g.99881358G>T | CA966686 | AGL | c.2068G>T (p.Gly690Cys) n.2279G>T c.2020G>T (p.Gly674Cys) c.2017G>T (p.Gly673Cys) c.328G>T (p.Gly110Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.99881359G>A | CA966687 | AGL | c.2069G>A (p.Gly690Asp) n.2280G>A c.2021G>A (p.Gly674Asp) c.2018G>A (p.Gly673Asp) c.329G>A (p.Gly110Asp) | dbSNP ExAC gnomAD v2 |
| 1 | g.99881359G>C | CA341318911 | AGL | c.2069G>C (p.Gly690Ala) n.2280G>C c.2021G>C (p.Gly674Ala) c.2018G>C (p.Gly673Ala) c.329G>C (p.Gly110Ala) | |
| 1 | g.99881359G= | CA1149063712 | AGL | c.2069G= (p.Gly690=) n.2280G= c.2021G= (p.Gly674=) c.2018G= (p.Gly673=) c.329G= (p.Gly110=) | |
| 1 | g.99881359G>T | CA341318912 | AGL | c.2069G>T (p.Gly690Val) n.2280G>T c.2021G>T (p.Gly674Val) c.2018G>T (p.Gly673Val) c.329G>T (p.Gly110Val) | ClinVar dbSNP gnomAD v2 |
| 1 | g.99881360T>A | CA419314381 | AGL | c.2070T>A (p.Gly690=) n.2281T>A c.2022T>A (p.Gly674=) c.2019T>A (p.Gly673=) c.330T>A (p.Gly110=) | |
| 1 | g.99881360T>C | CA419314382 | AGL | c.2070T>C (p.Gly690=) n.2281T>C c.2022T>C (p.Gly674=) c.2019T>C (p.Gly673=) c.330T>C (p.Gly110=) | |
| 1 | g.99881360T>G | CA419314383 | AGL | c.2070T>G (p.Gly690=) n.2281T>G c.2022T>G (p.Gly674=) c.2019T>G (p.Gly673=) c.330T>G (p.Gly110=) | |
| 1 | g.99881361G>A | CA341318913 | AGL | c.2071G>A (p.Glu691Lys) n.2282G>A c.2023G>A (p.Glu675Lys) c.2020G>A (p.Glu674Lys) c.331G>A (p.Glu111Lys) | |
| 1 | g.99881361G>C | CA341318915 | AGL | c.2071G>C (p.Glu691Gln) n.2282G>C c.2023G>C (p.Glu675Gln) c.2020G>C (p.Glu674Gln) c.331G>C (p.Glu111Gln) | |
| 1 | g.99881361G>T | CA341318916 | AGL | c.2071G>T (p.Glu691Ter) n.2282G>T c.2023G>T (p.Glu675Ter) c.2020G>T (p.Glu674Ter) c.331G>T (p.Glu111Ter) | |
| 1 | g.99881362A>C | CA341318917 | AGL | c.2072A>C (p.Glu691Ala) n.2283A>C c.2024A>C (p.Glu675Ala) c.2021A>C (p.Glu674Ala) c.332A>C (p.Glu111Ala) | |
| 1 | g.99881362A>G | CA341318918 | AGL | c.2072A>G (p.Glu691Gly) n.2283A>G c.2024A>G (p.Glu675Gly) c.2021A>G (p.Glu674Gly) c.332A>G (p.Glu111Gly) | |
| 1 | g.99881362A>T | CA341318920 | AGL | c.2072A>T (p.Glu691Val) n.2283A>T c.2024A>T (p.Glu675Val) c.2021A>T (p.Glu674Val) c.332A>T (p.Glu111Val) | |
| 1 | g.99881363A>C | CA341318927 | AGL | c.2073A>C (p.Glu691Asp) n.2284A>C c.2025A>C (p.Glu675Asp) c.2022A>C (p.Glu674Asp) c.333A>C (p.Glu111Asp) | gnomAD v4 |
| 1 | g.99881363A>G | CA419314384 | AGL | c.2073A>G (p.Glu691=) n.2284A>G c.2025A>G (p.Glu675=) c.2022A>G (p.Glu674=) c.333A>G (p.Glu111=) | |
| 1 | g.99881363A>T | CA341318923 | AGL | c.2073A>T (p.Glu691Asp) n.2284A>T c.2025A>T (p.Glu675Asp) c.2022A>T (p.Glu674Asp) c.333A>T (p.Glu111Asp) | |
| 1 | g.99881364G>A | CA966688 | AGL | c.2074G>A (p.Val692Ile) n.2285G>A c.2026G>A (p.Val676Ile) c.2023G>A (p.Val675Ile) c.334G>A (p.Val112Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99881364G>C | CA341318933 | AGL | c.2074G>C (p.Val692Leu) n.2285G>C c.2026G>C (p.Val676Leu) c.2023G>C (p.Val675Leu) c.334G>C (p.Val112Leu) | |
| 1 | g.99881364G= | CA1183929298 | AGL | c.2074G= (p.Val692=) n.2285G= c.2026G= (p.Val676=) c.2023G= (p.Val675=) c.334G= (p.Val112=) | |
| 1 | g.99881364G>T | CA341318935 | AGL | c.2074G>T (p.Val692Phe) n.2285G>T c.2026G>T (p.Val676Phe) c.2023G>T (p.Val675Phe) c.334G>T (p.Val112Phe) | |
| 1 | g.99881365T>A | CA341318939 | AGL | c.2075T>A (p.Val692Asp) n.2286T>A c.2027T>A (p.Val676Asp) c.2024T>A (p.Val675Asp) c.335T>A (p.Val112Asp) | |
| 1 | g.99881365T>C | CA341318940 | AGL | c.2075T>C (p.Val692Ala) n.2286T>C c.2027T>C (p.Val676Ala) c.2024T>C (p.Val675Ala) c.335T>C (p.Val112Ala) | |
| 1 | g.99881365T>G | CA341318943 | AGL | c.2075T>G (p.Val692Gly) n.2286T>G c.2027T>G (p.Val676Gly) c.2024T>G (p.Val675Gly) c.335T>G (p.Val112Gly) | |
| 1 | g.99881366T>A | CA419314385 | AGL | c.2076T>A (p.Val692=) n.2287T>A c.2028T>A (p.Val676=) c.2025T>A (p.Val675=) c.336T>A (p.Val112=) | |
| 1 | g.99881366T>C | CA419314386 | AGL | c.2076T>C (p.Val692=) n.2287T>C c.2028T>C (p.Val676=) c.2025T>C (p.Val675=) c.336T>C (p.Val112=) | |
| 1 | g.99881366T>G | CA419314387 | AGL | c.2076T>G (p.Val692=) n.2287T>G c.2028T>G (p.Val676=) c.2025T>G (p.Val675=) c.336T>G (p.Val112=) | |
| 1 | g.99881367A>C | CA341318948 | AGL | c.2077A>C (p.Asn693His) n.2288A>C c.2029A>C (p.Asn677His) c.2026A>C (p.Asn676His) c.337A>C (p.Asn113His) | |
| 1 | g.99881367A>G | CA341318946 | AGL | c.2077A>G (p.Asn693Asp) n.2288A>G c.2029A>G (p.Asn677Asp) c.2026A>G (p.Asn676Asp) c.337A>G (p.Asn113Asp) | gnomAD v4 |
| 1 | g.99881367A>T | CA341318947 | AGL | c.2077A>T (p.Asn693Tyr) n.2288A>T c.2029A>T (p.Asn677Tyr) c.2026A>T (p.Asn676Tyr) c.337A>T (p.Asn113Tyr) | |
| 1 | g.99881368A>C | CA341318949 | AGL | c.2078A>C (p.Asn693Thr) n.2289A>C c.2030A>C (p.Asn677Thr) c.2027A>C (p.Asn676Thr) c.338A>C (p.Asn113Thr) | |
| 1 | g.99881368A>G | CA341318950 | AGL | c.2078A>G (p.Asn693Ser) n.2289A>G c.2030A>G (p.Asn677Ser) c.2027A>G (p.Asn676Ser) c.338A>G (p.Asn113Ser) | |
| 1 | g.99881368A>T | CA341318952 | AGL | c.2078A>T (p.Asn693Ile) n.2289A>T c.2030A>T (p.Asn677Ile) c.2027A>T (p.Asn676Ile) c.338A>T (p.Asn113Ile) | |
| 1 | g.99881369T>A | CA341318960 | AGL | c.2079T>A (p.Asn693Lys) n.2290T>A c.2031T>A (p.Asn677Lys) c.2028T>A (p.Asn676Lys) c.339T>A (p.Asn113Lys) | |
| 1 | g.99881369T>C | CA419314388 | AGL | c.2079T>C (p.Asn693=) n.2290T>C c.2031T>C (p.Asn677=) c.2028T>C (p.Asn676=) c.339T>C (p.Asn113=) | ClinVar |
| 1 | g.99881369T>G | CA341318964 | AGL | c.2079T>G (p.Asn693Lys) n.2290T>G c.2031T>G (p.Asn677Lys) c.2028T>G (p.Asn676Lys) c.339T>G (p.Asn113Lys) | |
| 1 | g.99881370T>A | CA341318978 | AGL | c.2080T>A (p.Phe694Ile) n.2291T>A c.2032T>A (p.Phe678Ile) c.2029T>A (p.Phe677Ile) c.340T>A (p.Phe114Ile) | |
| 1 | g.99881370T>C | CA341318974 | AGL | c.2080T>C (p.Phe694Leu) n.2291T>C c.2032T>C (p.Phe678Leu) c.2029T>C (p.Phe677Leu) c.340T>C (p.Phe114Leu) | |
| 1 | g.99881370T>G | CA341318977 | AGL | c.2080T>G (p.Phe694Val) n.2291T>G c.2032T>G (p.Phe678Val) c.2029T>G (p.Phe677Val) c.340T>G (p.Phe114Val) | |
| 1 | g.99881371T>A | CA341318979 | AGL | c.2081T>A (p.Phe694Tyr) n.2292T>A c.2033T>A (p.Phe678Tyr) c.2030T>A (p.Phe677Tyr) c.341T>A (p.Phe114Tyr) | |
| 1 | g.99881371T>C | CA341318980 | AGL | c.2081T>C (p.Phe694Ser) n.2292T>C c.2033T>C (p.Phe678Ser) c.2030T>C (p.Phe677Ser) c.341T>C (p.Phe114Ser) | |
| 1 | g.99881371T>G | CA341318983 | AGL | c.2081T>G (p.Phe694Cys) n.2292T>G c.2033T>G (p.Phe678Cys) c.2030T>G (p.Phe677Cys) c.341T>G (p.Phe114Cys) | |
| 1 | g.99881371_99881373delinsTCC | CA1183929299 | AGL | c.2081_2083delinsTCC (p.Phe694=) n.2292_2294delinsTCC c.2033_2035delinsTCC (p.Phe678=) c.2030_2032delinsTCC (p.Phe677=) c.341_343delinsTCC (p.Phe114=) | |
| 1 | g.99881372C>A | CA341318989 | AGL | c.2082C>A (p.Phe694Leu) n.2293C>A c.2034C>A (p.Phe678Leu) c.2031C>A (p.Phe677Leu) c.342C>A (p.Phe114Leu) | |
| 1 | g.99881372C= | CA1183929300 | AGL | c.2082C= (p.Phe694=) n.2293C= c.2034C= (p.Phe678=) c.2031C= (p.Phe677=) c.342C= (p.Phe114=) | |
| 1 | g.99881372C>G | CA341318991 | AGL | c.2082C>G (p.Phe694Leu) n.2293C>G c.2034C>G (p.Phe678Leu) c.2031C>G (p.Phe677Leu) c.342C>G (p.Phe114Leu) | |
| 1 | g.99881372C>T | CA419314389 | AGL | c.2082C>T (p.Phe694=) n.2293C>T c.2034C>T (p.Phe678=) c.2031C>T (p.Phe677=) c.342C>T (p.Phe114=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.99881372_99881373del | CA524878245 | AGL | c.2082_2083del (p.Phe694LeufsTer13) n.2293_2294del c.2034_2035del (p.Phe678LeufsTer13) c.2031_2032del (p.Phe677LeufsTer13) c.342_343del (p.Phe114LeufsTer13) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.99881373C>A | CA341318995 | AGL | c.2083C>A (p.Gln695Lys) n.2294C>A c.2035C>A (p.Gln679Lys) c.2032C>A (p.Gln678Lys) c.343C>A (p.Gln115Lys) | |
| 1 | g.99881373C= | CA1183929301 | AGL | c.2083C= (p.Gln695=) n.2294C= c.2035C= (p.Gln679=) c.2032C= (p.Gln678=) c.343C= (p.Gln115=) | |
| 1 | g.99881373C>G | CA341318998 | AGL | c.2083C>G (p.Gln695Glu) n.2294C>G c.2035C>G (p.Gln679Glu) c.2032C>G (p.Gln678Glu) c.343C>G (p.Gln115Glu) | |
| 1 | g.99881373C>T | CA341318999 | AGL | c.2083C>T (p.Gln695Ter) n.2294C>T c.2035C>T (p.Gln679Ter) c.2032C>T (p.Gln678Ter) c.343C>T (p.Gln115Ter) | ClinVar dbSNP |
| 1 | g.99881374A= | CA1183929302 | AGL | c.2084A= (p.Gln695=) n.2295A= c.2036A= (p.Gln679=) c.2033A= (p.Gln678=) c.344A= (p.Gln115=) | |
| 1 | g.99881374A>C | CA341319000 | AGL | c.2084A>C (p.Gln695Pro) n.2295A>C c.2036A>C (p.Gln679Pro) c.2033A>C (p.Gln678Pro) c.344A>C (p.Gln115Pro) | |
| 1 | g.99881374A>G | CA966689 | AGL | c.2084A>G (p.Gln695Arg) n.2295A>G c.2036A>G (p.Gln679Arg) c.2033A>G (p.Gln678Arg) c.344A>G (p.Gln115Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.99881374A>T | CA341319002 | AGL | c.2084A>T (p.Gln695Leu) n.2295A>T c.2036A>T (p.Gln679Leu) c.2033A>T (p.Gln678Leu) c.344A>T (p.Gln115Leu) | |
| 1 | g.99881375A= | CA1183929303 | AGL | c.2085A= (p.Gln695=) n.2296A= c.2037A= (p.Gln679=) c.2034A= (p.Gln678=) c.345A= (p.Gln115=) | |
| 1 | g.99881375A>C | CA341319011 | AGL | c.2085A>C (p.Gln695His) n.2296A>C c.2037A>C (p.Gln679His) c.2034A>C (p.Gln678His) c.345A>C (p.Gln115His) | gnomAD v4 |
| 1 | g.99881375A>G | CA419314390 | AGL | c.2085A>G (p.Gln695=) n.2296A>G c.2037A>G (p.Gln679=) c.2034A>G (p.Gln678=) c.345A>G (p.Gln115=) | ClinVar dbSNP |
| 1 | g.99881375A>T | CA341319017 | AGL | c.2085A>T (p.Gln695His) n.2296A>T c.2037A>T (p.Gln679His) c.2034A>T (p.Gln678His) c.345A>T (p.Gln115His) | |
| 1 | g.99881376A= | CA1183929304 | AGL | c.2086A= (p.Ser696=) n.2297A= c.2038A= (p.Ser680=) c.2035A= (p.Ser679=) c.346A= (p.Ser116=) | |
| 1 | g.99881376A>C | CA341319021 | AGL | c.2086A>C (p.Ser696Arg) n.2297A>C c.2038A>C (p.Ser680Arg) c.2035A>C (p.Ser679Arg) c.346A>C (p.Ser116Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.99881376A>G | CA341319018 | AGL | c.2086A>G (p.Ser696Gly) n.2297A>G c.2038A>G (p.Ser680Gly) c.2035A>G (p.Ser679Gly) c.346A>G (p.Ser116Gly) | |
| 1 | g.99881376A>T | CA341319019 | AGL | c.2086A>T (p.Ser696Cys) n.2297A>T c.2038A>T (p.Ser680Cys) c.2035A>T (p.Ser679Cys) c.346A>T (p.Ser116Cys) | |
| 1 | g.99881377G>A | CA341319028 | AGL | c.2087G>A (p.Ser696Asn) n.2298G>A c.2039G>A (p.Ser680Asn) c.2036G>A (p.Ser679Asn) c.347G>A (p.Ser116Asn) | gnomAD v4 |
| 1 | g.99881377G>C | CA341319030 | AGL | c.2087G>C (p.Ser696Thr) n.2298G>C c.2039G>C (p.Ser680Thr) c.2036G>C (p.Ser679Thr) c.347G>C (p.Ser116Thr) | |
| 1 | g.99881377G>T | CA341319031 | AGL | c.2087G>T (p.Ser696Ile) n.2298G>T c.2039G>T (p.Ser680Ile) c.2036G>T (p.Ser679Ile) c.347G>T (p.Ser116Ile) | |
| 1 | g.99881379_99881389del | CA2646736275 | AGL | c.2089_2099del (p.Gly697SerfsTer7) n.2300_2310del c.2041_2051del (p.Gly681SerfsTer7) c.2038_2048del (p.Gly680SerfsTer7) c.349_359del (p.Gly117SerfsTer7) | gnomAD v4 |
| 1 | g.99881378C>A | CA341319037 | AGL | c.2088C>A (p.Ser696Arg) n.2299C>A c.2040C>A (p.Ser680Arg) c.2037C>A (p.Ser679Arg) c.348C>A (p.Ser116Arg) | gnomAD v4 |
| 1 | g.99881378C= | CA1141994865 | AGL | c.2088C= (p.Ser696=) n.2299C= c.2040C= (p.Ser680=) c.2037C= (p.Ser679=) c.348C= (p.Ser116=) | |
| 1 | g.99881378C>G | CA341319041 | AGL | c.2088C>G (p.Ser696Arg) n.2299C>G c.2040C>G (p.Ser680Arg) c.2037C>G (p.Ser679Arg) c.348C>G (p.Ser116Arg) | |
| 1 | g.99881378C>T | CA966690 | AGL | c.2088C>T (p.Ser696=) n.2299C>T c.2040C>T (p.Ser680=) c.2037C>T (p.Ser679=) c.348C>T (p.Ser116=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99881379G>A | CA966692 | AGL | c.2089G>A (p.Gly697Ser) n.2300G>A c.2041G>A (p.Gly681Ser) c.2038G>A (p.Gly680Ser) c.349G>A (p.Gly117Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.99881379G>C | CA341319058 | AGL | c.2089G>C (p.Gly697Arg) n.2300G>C c.2041G>C (p.Gly681Arg) c.2038G>C (p.Gly680Arg) c.349G>C (p.Gly117Arg) | |
| 1 | g.99881379G= | CA1183929305 | AGL | c.2089G= (p.Gly697=) n.2300G= c.2041G= (p.Gly681=) c.2038G= (p.Gly680=) c.349G= (p.Gly117=) | |
| 1 | g.99881379G>T | CA966691 | AGL | c.2089G>T (p.Gly697Cys) n.2300G>T c.2041G>T (p.Gly681Cys) c.2038G>T (p.Gly680Cys) c.349G>T (p.Gly117Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99881380G>A | CA341319067 | AGL | c.2090G>A (p.Gly697Asp) n.2301G>A c.2042G>A (p.Gly681Asp) c.2039G>A (p.Gly680Asp) c.350G>A (p.Gly117Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.99881380G>C | CA341319071 | AGL | c.2090G>C (p.Gly697Ala) n.2301G>C c.2042G>C (p.Gly681Ala) c.2039G>C (p.Gly680Ala) c.350G>C (p.Gly117Ala) | |
| 1 | g.99881380G= | CA1183929306 | AGL | c.2090G= (p.Gly697=) n.2301G= c.2042G= (p.Gly681=) c.2039G= (p.Gly680=) c.350G= (p.Gly117=) | |
| 1 | g.99881380G>T | CA341319073 | AGL | c.2090G>T (p.Gly697Val) n.2301G>T c.2042G>T (p.Gly681Val) c.2039G>T (p.Gly680Val) c.350G>T (p.Gly117Val) | |
| 1 | g.99881381C>A | CA419314391 | AGL | c.2091C>A (p.Gly697=) n.2302C>A c.2043C>A (p.Gly681=) c.2040C>A (p.Gly680=) c.351C>A (p.Gly117=) | dbSNP |
| 1 | g.99881381C= | CA1183929307 | AGL | c.2091C= (p.Gly697=) n.2302C= c.2043C= (p.Gly681=) c.2040C= (p.Gly680=) c.351C= (p.Gly117=) | |
| 1 | g.99881381C>G | CA419314392 | AGL | c.2091C>G (p.Gly697=) n.2302C>G c.2043C>G (p.Gly681=) c.2040C>G (p.Gly680=) c.351C>G (p.Gly117=) | ClinVar |
| 1 | g.99881381C>T | CA966693 | AGL | c.2091C>T (p.Gly697=) n.2302C>T c.2043C>T (p.Gly681=) c.2040C>T (p.Gly680=) c.351C>T (p.Gly117=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.99881384_99881417del | CA2573131992 | AGL | c.2094_2127del (p.Ile699ArgfsTer20) n.2305_2338del c.2046_2079del (p.Ile683ArgfsTer20) c.2043_2076del (p.Ile682ArgfsTer20) c.354_387del (p.Ile119ArgfsTer20) | ClinVar dbSNP |
| 1 | g.99881382A= | CA1183929308 | AGL | c.2092A= (p.Ile698=) n.2303A= c.2044A= (p.Ile682=) c.2041A= (p.Ile681=) c.352A= (p.Ile118=) | |
| 1 | g.99881382A>C | CA341319077 | AGL | c.2092A>C (p.Ile698Leu) n.2303A>C c.2044A>C (p.Ile682Leu) c.2041A>C (p.Ile681Leu) c.352A>C (p.Ile118Leu) | |
| 1 | g.99881382A>G | CA341319074 | AGL | c.2092A>G (p.Ile698Val) n.2303A>G c.2044A>G (p.Ile682Val) c.2041A>G (p.Ile681Val) c.352A>G (p.Ile118Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 1 | g.99881382A>T | CA341319075 | AGL | c.2092A>T (p.Ile698Phe) n.2303A>T c.2044A>T (p.Ile682Phe) c.2041A>T (p.Ile681Phe) c.352A>T (p.Ile118Phe) | |
| 1 | g.99881383T>A | CA341319080 | AGL | c.2093T>A (p.Ile698Asn) n.2304T>A c.2045T>A (p.Ile682Asn) c.2042T>A (p.Ile681Asn) c.353T>A (p.Ile118Asn) | |
| 1 | g.99881383T>C | CA341319082 | AGL | c.2093T>C (p.Ile698Thr) n.2304T>C c.2045T>C (p.Ile682Thr) c.2042T>C (p.Ile681Thr) c.353T>C (p.Ile118Thr) | gnomAD v4 |
| 1 | g.99881383T>G | CA341319086 | AGL | c.2093T>G (p.Ile698Ser) n.2304T>G c.2045T>G (p.Ile682Ser) c.2042T>G (p.Ile681Ser) c.353T>G (p.Ile118Ser) | |
| 1 | g.99881384T>A | CA419314393 | AGL | c.2094T>A (p.Ile698=) n.2305T>A c.2046T>A (p.Ile682=) c.2043T>A (p.Ile681=) c.354T>A (p.Ile118=) | ClinVar dbSNP |
| 1 | g.99881384T>C | CA27516291 | AGL | c.2094T>C (p.Ile698=) n.2305T>C c.2046T>C (p.Ile682=) c.2043T>C (p.Ile681=) c.354T>C (p.Ile118=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.99881384T>G | CA341319093 | AGL | c.2094T>G (p.Ile698Met) n.2305T>G c.2046T>G (p.Ile682Met) c.2043T>G (p.Ile681Met) c.354T>G (p.Ile118Met) | |
| 1 | g.99881384T= | CA1183929309 | AGL | c.2094T= (p.Ile698=) n.2305T= c.2046T= (p.Ile682=) c.2043T= (p.Ile681=) c.354T= (p.Ile118=) | |
| 1 | g.99881385A>C | CA341319096 | AGL | c.2095A>C (p.Ile699Leu) n.2306A>C c.2047A>C (p.Ile683Leu) c.2044A>C (p.Ile682Leu) c.355A>C (p.Ile119Leu) | |
| 1 | g.99881385A>G | CA341319098 | AGL | c.2095A>G (p.Ile699Val) n.2306A>G c.2047A>G (p.Ile683Val) c.2044A>G (p.Ile682Val) c.355A>G (p.Ile119Val) | |
| 1 | g.99881385A>T | CA341319106 | AGL | c.2095A>T (p.Ile699Phe) n.2306A>T c.2047A>T (p.Ile683Phe) c.2044A>T (p.Ile682Phe) c.355A>T (p.Ile119Phe) | |
| 1 | g.99881386T>A | CA341319110 | AGL | c.2096T>A (p.Ile699Asn) n.2307T>A c.2048T>A (p.Ile683Asn) c.2045T>A (p.Ile682Asn) c.356T>A (p.Ile119Asn) | |
| 1 | g.99881386T>C | CA341319115 | AGL | c.2096T>C (p.Ile699Thr) n.2307T>C c.2048T>C (p.Ile683Thr) c.2045T>C (p.Ile682Thr) c.356T>C (p.Ile119Thr) | |
| 1 | g.99881386T>G | CA341319120 | AGL | c.2096T>G (p.Ile699Ser) n.2307T>G c.2048T>G (p.Ile683Ser) c.2045T>G (p.Ile682Ser) c.356T>G (p.Ile119Ser) | |
| 1 | g.99881387T>A | CA419314394 | AGL | c.2097T>A (p.Ile699=) n.2308T>A c.2049T>A (p.Ile683=) c.2046T>A (p.Ile682=) c.357T>A (p.Ile119=) | |
| 1 | g.99881387T>C | CA419314395 | AGL | c.2097T>C (p.Ile699=) n.2308T>C c.2049T>C (p.Ile683=) c.2046T>C (p.Ile682=) c.357T>C (p.Ile119=) | |
| 1 | g.99881387T>G | CA341319124 | AGL | c.2097T>G (p.Ile699Met) n.2308T>G c.2049T>G (p.Ile683Met) c.2046T>G (p.Ile682Met) c.357T>G (p.Ile119Met) | |
| 1 | g.99881388G>A | CA341319131 | AGL | c.2098G>A (p.Ala700Thr) n.2309G>A c.2050G>A (p.Ala684Thr) c.2047G>A (p.Ala683Thr) c.358G>A (p.Ala120Thr) | |
| 1 | g.99881388G>C | CA341319136 | AGL | c.2098G>C (p.Ala700Pro) n.2309G>C c.2050G>C (p.Ala684Pro) c.2047G>C (p.Ala683Pro) c.358G>C (p.Ala120Pro) | |
| 1 | g.99881388G>T | CA341319133 | AGL | c.2098G>T (p.Ala700Ser) n.2309G>T c.2050G>T (p.Ala684Ser) c.2047G>T (p.Ala683Ser) c.358G>T (p.Ala120Ser) | |
| 1 | g.99881389C>A | CA341319137 | AGL | c.2099C>A (p.Ala700Glu) n.2310C>A c.2051C>A (p.Ala684Glu) c.2048C>A (p.Ala683Glu) c.359C>A (p.Ala120Glu) | |
| 1 | g.99881389C>G | CA341319139 | AGL | c.2099C>G (p.Ala700Gly) n.2310C>G c.2051C>G (p.Ala684Gly) c.2048C>G (p.Ala683Gly) c.359C>G (p.Ala120Gly) | gnomAD v4 |
| 1 | g.99881389C>T | CA341319138 | AGL | c.2099C>T (p.Ala700Val) n.2310C>T c.2051C>T (p.Ala684Val) c.2048C>T (p.Ala683Val) c.359C>T (p.Ala120Val) | |
| 1 | g.99881390A= | CA1183929310 | AGL | c.2100A= (p.Ala700=) n.2311A= c.2052A= (p.Ala684=) c.2049A= (p.Ala683=) c.360A= (p.Ala120=) | |
| 1 | g.99881390A>C | CA419314396 | AGL | c.2100A>C (p.Ala700=) n.2311A>C c.2052A>C (p.Ala684=) c.2049A>C (p.Ala683=) c.360A>C (p.Ala120=) | |
| 1 | g.99881390A>G | CA419314398 | AGL | c.2100A>G (p.Ala700=) n.2311A>G c.2052A>G (p.Ala684=) c.2049A>G (p.Ala683=) c.360A>G (p.Ala120=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99881390A>T | CA419314397 | AGL | c.2100A>T (p.Ala700=) n.2311A>T c.2052A>T (p.Ala684=) c.2049A>T (p.Ala683=) c.360A>T (p.Ala120=) | COSMIC COSMIC |
| 1 | g.99881391G>A | CA341319142 | AGL | c.2101G>A (p.Ala701Thr) n.2312G>A c.2053G>A (p.Ala685Thr) c.2050G>A (p.Ala684Thr) c.361G>A (p.Ala121Thr) | gnomAD v4 |
| 1 | g.99881391G>C | CA341319146 | AGL | c.2101G>C (p.Ala701Pro) n.2312G>C c.2053G>C (p.Ala685Pro) c.2050G>C (p.Ala684Pro) c.361G>C (p.Ala121Pro) | |
| 1 | g.99881391G= | CA1139990702 | AGL | c.2101G= (p.Ala701=) n.2312G= c.2053G= (p.Ala685=) c.2050G= (p.Ala684=) c.361G= (p.Ala121=) | |
| 1 | g.99881391G>T | CA966694 | AGL | c.2101G>T (p.Ala701Ser) n.2312G>T c.2053G>T (p.Ala685Ser) c.2050G>T (p.Ala684Ser) c.361G>T (p.Ala121Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99881392C>A | CA341319147 | AGL | c.2102C>A (p.Ala701Asp) n.2313C>A c.2054C>A (p.Ala685Asp) c.2051C>A (p.Ala684Asp) c.362C>A (p.Ala121Asp) | |
| 1 | g.99881392C>G | CA341319149 | AGL | c.2102C>G (p.Ala701Gly) n.2313C>G c.2054C>G (p.Ala685Gly) c.2051C>G (p.Ala684Gly) c.362C>G (p.Ala121Gly) | |
| 1 | g.99881392C>T | CA341319150 | AGL | c.2102C>T (p.Ala701Val) n.2313C>T c.2054C>T (p.Ala685Val) c.2051C>T (p.Ala684Val) c.362C>T (p.Ala121Val) | |
| 1 | g.99881393C>A | CA419314399 | AGL | c.2103C>A (p.Ala701=) n.2314C>A c.2055C>A (p.Ala685=) c.2052C>A (p.Ala684=) c.363C>A (p.Ala121=) | |
| 1 | g.99881393C>G | CA419314400 | AGL | c.2103C>G (p.Ala701=) n.2314C>G c.2055C>G (p.Ala685=) c.2052C>G (p.Ala684=) c.363C>G (p.Ala121=) | |
| 1 | g.99881393C>T | CA419314401 | AGL | c.2103C>T (p.Ala701=) n.2314C>T c.2055C>T (p.Ala685=) c.2052C>T (p.Ala684=) c.363C>T (p.Ala121=) | |
| 1 | g.99881394A= | CA1183929311 | AGL | c.2104A= (p.Arg702=) n.2315A= c.2056A= (p.Arg686=) c.2053A= (p.Arg685=) c.364A= (p.Arg122=) | |
| 1 | g.99881394A>C | CA419314402 | AGL | c.2104A>C (p.Arg702=) n.2315A>C c.2056A>C (p.Arg686=) c.2053A>C (p.Arg685=) c.364A>C (p.Arg122=) | |
| 1 | g.99881394A>G | CA341319152 | AGL | c.2104A>G (p.Arg702Gly) n.2315A>G c.2056A>G (p.Arg686Gly) c.2053A>G (p.Arg685Gly) c.364A>G (p.Arg122Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.99881394A>T | CA341319154 | AGL | c.2104A>T (p.Arg702Trp) n.2315A>T c.2056A>T (p.Arg686Trp) c.2053A>T (p.Arg685Trp) c.364A>T (p.Arg122Trp) | dbSNP |
| 1 | g.99881395G>A | CA341319158 | AGL | c.2105G>A (p.Arg702Lys) n.2316G>A c.2057G>A (p.Arg686Lys) c.2054G>A (p.Arg685Lys) c.365G>A (p.Arg122Lys) | |
| 1 | g.99881395G>C | CA341319161 | AGL | c.2105G>C (p.Arg702Thr) n.2316G>C c.2057G>C (p.Arg686Thr) c.2054G>C (p.Arg685Thr) c.365G>C (p.Arg122Thr) | |
| 1 | g.99881395G>T | CA341319162 | AGL | c.2105G>T (p.Arg702Met) n.2316G>T c.2057G>T (p.Arg686Met) c.2054G>T (p.Arg685Met) c.365G>T (p.Arg122Met) | |
| 1 | g.99881396G>A | CA419314403 | AGL | c.2106G>A (p.Arg702=) n.2317G>A c.2058G>A (p.Arg686=) c.2055G>A (p.Arg685=) c.366G>A (p.Arg122=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.99881396G>C | CA341319168 | AGL | c.2106G>C (p.Arg702Ser) n.2317G>C c.2058G>C (p.Arg686Ser) c.2055G>C (p.Arg685Ser) c.366G>C (p.Arg122Ser) | |
| 1 | g.99881396G>T | CA341319170 | AGL | c.2106G>T (p.Arg702Ser) n.2317G>T c.2058G>T (p.Arg686Ser) c.2055G>T (p.Arg685Ser) c.366G>T (p.Arg122Ser) | |
| 1 | g.99881397T>A | CA341319179 | AGL | c.2107T>A (p.Cys703Ser) n.2318T>A c.2059T>A (p.Cys687Ser) c.2056T>A (p.Cys686Ser) c.367T>A (p.Cys123Ser) | |
| 1 | g.99881397T>C | CA341319176 | AGL | c.2107T>C (p.Cys703Arg) n.2318T>C c.2059T>C (p.Cys687Arg) c.2056T>C (p.Cys686Arg) c.367T>C (p.Cys123Arg) | ClinVar dbSNP |
| 1 | g.99881397T>G | CA341319172 | AGL | c.2107T>G (p.Cys703Gly) n.2318T>G c.2059T>G (p.Cys687Gly) c.2056T>G (p.Cys686Gly) c.367T>G (p.Cys123Gly) | |
| 1 | g.99881398G>A | CA341319183 | AGL | c.2108G>A (p.Cys703Tyr) n.2319G>A c.2060G>A (p.Cys687Tyr) c.2057G>A (p.Cys686Tyr) c.368G>A (p.Cys123Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99881398G>C | CA341319186 | AGL | c.2108G>C (p.Cys703Ser) n.2319G>C c.2060G>C (p.Cys687Ser) c.2057G>C (p.Cys686Ser) c.368G>C (p.Cys123Ser) | |
| 1 | g.99881398G= | CA1183929312 | AGL | c.2108G= (p.Cys703=) n.2319G= c.2060G= (p.Cys687=) c.2057G= (p.Cys686=) c.368G= (p.Cys123=) | |
| 1 | g.99881398G>T | CA341319195 | AGL | c.2108G>T (p.Cys703Phe) n.2319G>T c.2060G>T (p.Cys687Phe) c.2057G>T (p.Cys686Phe) c.368G>T (p.Cys123Phe) | |
| 1 | g.99881399T>A | CA341319200 | AGL | c.2109T>A (p.Cys703Ter) n.2320T>A c.2061T>A (p.Cys687Ter) c.2058T>A (p.Cys686Ter) c.369T>A (p.Cys123Ter) | ClinVar |
| 1 | g.99881399T>C | CA419314404 | AGL | c.2109T>C (p.Cys703=) n.2320T>C c.2061T>C (p.Cys687=) c.2058T>C (p.Cys686=) c.369T>C (p.Cys123=) | |
| 1 | g.99881399T>G | CA341319201 | AGL | c.2109T>G (p.Cys703Trp) n.2320T>G c.2061T>G (p.Cys687Trp) c.2058T>G (p.Cys686Trp) c.369T>G (p.Cys123Trp) | |
| 1 | g.99881400G>A | CA341319204 | AGL | c.2110G>A (p.Ala704Thr) n.2321G>A c.2062G>A (p.Ala688Thr) c.2059G>A (p.Ala687Thr) c.370G>A (p.Ala124Thr) | |
| 1 | g.99881400G>C | CA341319207 | AGL | c.2110G>C (p.Ala704Pro) n.2321G>C c.2062G>C (p.Ala688Pro) c.2059G>C (p.Ala687Pro) c.370G>C (p.Ala124Pro) | |
| 1 | g.99881400G>T | CA341319210 | AGL | c.2110G>T (p.Ala704Ser) n.2321G>T c.2062G>T (p.Ala688Ser) c.2059G>T (p.Ala687Ser) c.370G>T (p.Ala124Ser) | |
| 1 | g.99881400_99881411del | CA2646736332 | AGL | c.2110_2121del (p.Ala704_Lys707del) n.2321_2332del c.2062_2073del (p.Ala688_Lys691del) c.2059_2070del (p.Ala687_Lys690del) c.370_381del (p.Ala124_Lys127del) | gnomAD v4 |
| 1 | g.99881401C>A | CA341319213 | AGL | c.2111C>A (p.Ala704Asp) n.2322C>A c.2063C>A (p.Ala688Asp) c.2060C>A (p.Ala687Asp) c.371C>A (p.Ala124Asp) | |
| 1 | g.99881401C>G | CA341319215 | AGL | c.2111C>G (p.Ala704Gly) n.2322C>G c.2063C>G (p.Ala688Gly) c.2060C>G (p.Ala687Gly) c.371C>G (p.Ala124Gly) | |
| 1 | g.99881401C>T | CA341319219 | AGL | c.2111C>T (p.Ala704Val) n.2322C>T c.2063C>T (p.Ala688Val) c.2060C>T (p.Ala687Val) c.371C>T (p.Ala124Val) | |
| 1 | g.99881402T>A | CA419314405 | AGL | c.2112T>A (p.Ala704=) n.2323T>A c.2064T>A (p.Ala688=) c.2061T>A (p.Ala687=) c.372T>A (p.Ala124=) | |
| 1 | g.99881402T>C | CA419314406 | AGL | c.2112T>C (p.Ala704=) n.2323T>C c.2064T>C (p.Ala688=) c.2061T>C (p.Ala687=) c.372T>C (p.Ala124=) | |
| 1 | g.99881402T>G | CA419314407 | AGL | c.2112T>G (p.Ala704=) n.2323T>G c.2064T>G (p.Ala688=) c.2061T>G (p.Ala687=) c.372T>G (p.Ala124=) | |
| 1 | g.99881403A= | CA1183929313 | AGL | c.2113A= (p.Ile705=) n.2324A= c.2065A= (p.Ile689=) c.2062A= (p.Ile688=) c.373A= (p.Ile125=) | |
| 1 | g.99881403A>C | CA341319224 | AGL | c.2113A>C (p.Ile705Leu) n.2324A>C c.2065A>C (p.Ile689Leu) c.2062A>C (p.Ile688Leu) c.373A>C (p.Ile125Leu) | |
| 1 | g.99881403A>G | CA341319223 | AGL | c.2113A>G (p.Ile705Val) n.2324A>G c.2065A>G (p.Ile689Val) c.2062A>G (p.Ile688Val) c.373A>G (p.Ile125Val) | ClinVar dbSNP |
| 1 | g.99881403A>T | CA341319222 | AGL | c.2113A>T (p.Ile705Phe) n.2324A>T c.2065A>T (p.Ile689Phe) c.2062A>T (p.Ile688Phe) c.373A>T (p.Ile125Phe) | |
| 1 | g.99881404T>A | CA341319225 | AGL | c.2114T>A (p.Ile705Asn) n.2325T>A c.2066T>A (p.Ile689Asn) c.2063T>A (p.Ile688Asn) c.374T>A (p.Ile125Asn) | |
| 1 | g.99881404T>C | CA966695 | AGL | c.2114T>C (p.Ile705Thr) n.2325T>C c.2066T>C (p.Ile689Thr) c.2063T>C (p.Ile688Thr) c.374T>C (p.Ile125Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99881404T>G | CA341319227 | AGL | c.2114T>G (p.Ile705Ser) n.2325T>G c.2066T>G (p.Ile689Ser) c.2063T>G (p.Ile688Ser) c.374T>G (p.Ile125Ser) | |
| 1 | g.99881404T= | CA1183929314 | AGL | c.2114T= (p.Ile705=) n.2325T= c.2066T= (p.Ile689=) c.2063T= (p.Ile688=) c.374T= (p.Ile125=) |