| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.99881266C>A | CA966670 | AGL | c.2002-26C>A (n.2002-26C>A) n.2213-26C>A c.1954-26C>A (n.1954-26C>A) c.1951-26C>A (n.1951-26C>A) c.262-26C>A (n.262-26C>A) | dbSNP ExAC gnomAD v2 |
| 1 | g.99881266C= | CA1183929263 | AGL | c.2002-26C= (n.2002-26C=) n.2213-26C= c.1954-26C= (n.1954-26C=) c.1951-26C= (n.1951-26C=) c.262-26C= (n.262-26C=) | |
| 1 | g.99881266C>G | CA741032299 | AGL | c.2002-26C>G (n.2002-26C>G) n.2213-26C>G c.1954-26C>G (n.1954-26C>G) c.1951-26C>G (n.1951-26C>G) c.262-26C>G (n.262-26C>G) | dbSNP |
| 1 | g.99881267C>A | CA966671 | AGL | c.2002-25C>A (n.2002-25C>A) n.2213-25C>A c.1954-25C>A (n.1954-25C>A) c.1951-25C>A (n.1951-25C>A) c.262-25C>A (n.262-25C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.99881267C= | CA1149064692 | AGL | c.2002-25C= (n.2002-25C=) n.2213-25C= c.1954-25C= (n.1954-25C=) c.1951-25C= (n.1951-25C=) c.262-25C= (n.262-25C=) | |
| 1 | g.99881267C>T | CA2574444616 | AGL | c.2002-25C>T (n.2002-25C>T) n.2213-25C>T c.1954-25C>T (n.1954-25C>T) c.1951-25C>T (n.1951-25C>T) c.262-25C>T (n.262-25C>T) | |
| 1 | g.99881269T>C | CA966672 | AGL | c.2002-23T>C (n.2002-23T>C) n.2213-23T>C c.1954-23T>C (n.1954-23T>C) c.1951-23T>C (n.1951-23T>C) c.262-23T>C (n.262-23T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.99881269T= | CA1183929264 | AGL | c.2002-23T= (n.2002-23T=) n.2213-23T= c.1954-23T= (n.1954-23T=) c.1951-23T= (n.1951-23T=) c.262-23T= (n.262-23T=) | |
| 1 | g.99881271C>A | CA2646736183 | AGL | c.2002-21C>A (n.2002-21C>A) n.2213-21C>A c.1954-21C>A (n.1954-21C>A) c.1951-21C>A (n.1951-21C>A) c.262-21C>A (n.262-21C>A) | gnomAD v4 |
| 1 | g.99881271C>G | CA2538753248 | AGL | c.2002-21C>G (n.2002-21C>G) n.2213-21C>G c.1954-21C>G (n.1954-21C>G) c.1951-21C>G (n.1951-21C>G) c.262-21C>G (n.262-21C>G) | |
| 1 | g.99881272T>C | CA2519957083 | AGL | c.2002-20T>C (n.2002-20T>C) n.2213-20T>C c.1954-20T>C (n.1954-20T>C) c.1951-20T>C (n.1951-20T>C) c.262-20T>C (n.262-20T>C) | |
| 1 | g.99881273A>G | CA2696507185 | AGL | c.2002-19A>G (n.2002-19A>G) n.2213-19A>G c.1954-19A>G (n.1954-19A>G) c.1951-19A>G (n.1951-19A>G) c.262-19A>G (n.262-19A>G) | dbSNP |
| 1 | g.99881275A>G | CA2739272691 | AGL | c.2002-17A>G (n.2002-17A>G) n.2213-17A>G c.1954-17A>G (n.1954-17A>G) c.1951-17A>G (n.1951-17A>G) c.262-17A>G (n.262-17A>G) | ClinVar |
| 1 | g.99881276T>G | CA2572628983 | AGL | c.2002-16T>G (n.2002-16T>G) n.2213-16T>G c.1954-16T>G (n.1954-16T>G) c.1951-16T>G (n.1951-16T>G) c.262-16T>G (n.262-16T>G) | |
| 1 | g.99881279T>G | CA741032305 | AGL | c.2002-13T>G (n.2002-13T>G) n.2213-13T>G c.1954-13T>G (n.1954-13T>G) c.1951-13T>G (n.1951-13T>G) c.262-13T>G (n.262-13T>G) | dbSNP |
| 1 | g.99881279T= | CA1183929265 | AGL | c.2002-13T= (n.2002-13T=) n.2213-13T= c.1954-13T= (n.1954-13T=) c.1951-13T= (n.1951-13T=) c.262-13T= (n.262-13T=) | |
| 1 | g.99881279_99881280insGAA | CA2543707722 | AGL | c.2002-13_2002-12insGAA (n.2002-13_2002-12insGAA) n.2213-13_2213-12insGAA c.1954-13_1954-12insGAA (n.1954-13_1954-12insGAA) c.1951-13_1951-12insGAA (n.1951-13_1951-12insGAA) c.262-13_262-12insGAA (n.262-13_262-12insGAA) | |
| 1 | g.99881280A= | CA1183929266 | AGL | c.2002-12A= (n.2002-12A=) n.2213-12A= c.1954-12A= (n.1954-12A=) c.1951-12A= (n.1951-12A=) c.262-12A= (n.262-12A=) | |
| 1 | g.99881280A>G | CA966673 | AGL | c.2002-12A>G (n.2002-12A>G) n.2213-12A>G c.1954-12A>G (n.1954-12A>G) c.1951-12A>G (n.1951-12A>G) c.262-12A>G (n.262-12A>G) | dbSNP ExAC |
| 1 | g.99881281C>T | CA645732587 | AGL | c.2002-11C>T (n.2002-11C>T) n.2213-11C>T c.1954-11C>T (n.1954-11C>T) c.1951-11C>T (n.1951-11C>T) c.262-11C>T (n.262-11C>T) | COSMIC |
| 1 | g.99881282C= | CA1183929267 | AGL | c.2002-10C= (n.2002-10C=) n.2213-10C= c.1954-10C= (n.1954-10C=) c.1951-10C= (n.1951-10C=) c.262-10C= (n.262-10C=) | |
| 1 | g.99881282C>T | CA966674 | AGL | c.2002-10C>T (n.2002-10C>T) n.2213-10C>T c.1954-10C>T (n.1954-10C>T) c.1951-10C>T (n.1951-10C>T) c.262-10C>T (n.262-10C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.99881283T>C | CA524878244 | AGL | c.2002-9T>C (n.2002-9T>C) n.2213-9T>C c.1954-9T>C (n.1954-9T>C) c.1951-9T>C (n.1951-9T>C) c.262-9T>C (n.262-9T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99881283T= | CA1183929268 | AGL | c.2002-9T= (n.2002-9T=) n.2213-9T= c.1954-9T= (n.1954-9T=) c.1951-9T= (n.1951-9T=) c.262-9T= (n.262-9T=) | |
| 1 | g.99881284T>A | CA2646736184 | AGL | c.2002-8T>A (n.2002-8T>A) n.2213-8T>A c.1954-8T>A (n.1954-8T>A) c.1951-8T>A (n.1951-8T>A) c.262-8T>A (n.262-8T>A) | gnomAD v4 |
| 1 | g.99881286G>T | CA2580063401 | AGL | c.2002-6G>T (n.2002-6G>T) n.2213-6G>T c.1954-6G>T (n.1954-6G>T) c.1951-6G>T (n.1951-6G>T) c.262-6G>T (n.262-6G>T) | ClinVar gnomAD v4 |
| 1 | g.99881287T>A | CA966675 | AGL | c.2002-5T>A (n.2002-5T>A) n.2213-5T>A c.1954-5T>A (n.1954-5T>A) c.1951-5T>A (n.1951-5T>A) c.262-5T>A (n.262-5T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99881287T>C | CA741032331 | AGL | c.2002-5T>C (n.2002-5T>C) n.2213-5T>C c.1954-5T>C (n.1954-5T>C) c.1951-5T>C (n.1951-5T>C) c.262-5T>C (n.262-5T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.99881287T= | CA1143501073 | AGL | c.2002-5T= (n.2002-5T=) n.2213-5T= c.1954-5T= (n.1954-5T=) c.1951-5T= (n.1951-5T=) c.262-5T= (n.262-5T=) | |
| 1 | g.99881288C>T | CA2518237681 | AGL | c.2002-4C>T (n.2002-4C>T) n.2213-4C>T c.1954-4C>T (n.1954-4C>T) c.1951-4C>T (n.1951-4C>T) c.262-4C>T (n.262-4C>T) | ClinVar dbSNP |
| 1 | g.99881290A>C | CA341318420 | AGL | c.2002-2A>C (n.2002-2A>C) n.2213-2A>C c.1954-2A>C (n.1954-2A>C) c.1951-2A>C (n.1951-2A>C) c.262-2A>C (n.262-2A>C) | |
| 1 | g.99881290A>G | CA341318415 | AGL | c.2002-2A>G (n.2002-2A>G) n.2213-2A>G c.1954-2A>G (n.1954-2A>G) c.1951-2A>G (n.1951-2A>G) c.262-2A>G (n.262-2A>G) | |
| 1 | g.99881290A>T | CA341318412 | AGL | c.2002-2A>T (n.2002-2A>T) n.2213-2A>T c.1954-2A>T (n.1954-2A>T) c.1951-2A>T (n.1951-2A>T) c.262-2A>T (n.262-2A>T) | |
| 1 | g.99881291G>A | CA341318424 | AGL | c.2002-1G>A (n.2002-1G>A) n.2213-1G>A c.1954-1G>A (n.1954-1G>A) c.1951-1G>A (n.1951-1G>A) c.262-1G>A (n.262-1G>A) | |
| 1 | g.99881291G>C | CA341318426 | AGL | c.2002-1G>C (n.2002-1G>C) n.2213-1G>C c.1954-1G>C (n.1954-1G>C) c.1951-1G>C (n.1951-1G>C) c.262-1G>C (n.262-1G>C) | ClinVar dbSNP gnomAD v4 |
| 1 | g.99881291G>T | CA341318432 | AGL | c.2002-1G>T (n.2002-1G>T) n.2213-1G>T c.1954-1G>T (n.1954-1G>T) c.1951-1G>T (n.1951-1G>T) c.262-1G>T (n.262-1G>T) | |
| 1 | g.99881292A>C | CA341318439 | AGL | c.2002A>C (p.Ile668Leu) n.2213A>C c.1954A>C (p.Ile652Leu) c.1951A>C (p.Ile651Leu) c.262A>C (p.Ile88Leu) | |
| 1 | g.99881292A>G | CA341318442 | AGL | c.2002A>G (p.Ile668Val) n.2213A>G c.1954A>G (p.Ile652Val) c.1951A>G (p.Ile651Val) c.262A>G (p.Ile88Val) | |
| 1 | g.99881292A>T | CA341318443 | AGL | c.2002A>T (p.Ile668Phe) n.2213A>T c.1954A>T (p.Ile652Phe) c.1951A>T (p.Ile651Phe) c.262A>T (p.Ile88Phe) | gnomAD v4 |
| 1 | g.99881293T>A | CA27516150 | AGL | c.2003T>A (p.Ile668Asn) n.2214T>A c.1955T>A (p.Ile652Asn) c.1952T>A (p.Ile651Asn) c.263T>A (p.Ile88Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99881293T>C | CA341318447 | AGL | c.2003T>C (p.Ile668Thr) n.2214T>C c.1955T>C (p.Ile652Thr) c.1952T>C (p.Ile651Thr) c.263T>C (p.Ile88Thr) | |
| 1 | g.99881293T>G | CA341318448 | AGL | c.2003T>G (p.Ile668Ser) n.2214T>G c.1955T>G (p.Ile652Ser) c.1952T>G (p.Ile651Ser) c.263T>G (p.Ile88Ser) | |
| 1 | g.99881293T= | CA1146456578 | AGL | c.2003T= (p.Ile668=) n.2214T= c.1955T= (p.Ile652=) c.1952T= (p.Ile651=) c.263T= (p.Ile88=) | |
| 1 | g.99881294T>A | CA419314329 | AGL | c.2004T>A (p.Ile668=) n.2215T>A c.1956T>A (p.Ile652=) c.1953T>A (p.Ile651=) c.264T>A (p.Ile88=) | |
| 1 | g.99881294T>C | CA27516162 | AGL | c.2004T>C (p.Ile668=) n.2215T>C c.1956T>C (p.Ile652=) c.1953T>C (p.Ile651=) c.264T>C (p.Ile88=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.99881294T>G | CA341318450 | AGL | c.2004T>G (p.Ile668Met) n.2215T>G c.1956T>G (p.Ile652Met) c.1953T>G (p.Ile651Met) c.264T>G (p.Ile88Met) | |
| 1 | g.99881294T= | CA1142886645 | AGL | c.2004T= (p.Ile668=) n.2215T= c.1956T= (p.Ile652=) c.1953T= (p.Ile651=) c.264T= (p.Ile88=) | |
| 1 | g.99881295T>A | CA341318452 | AGL | c.2005T>A (p.Ser669Thr) n.2216T>A c.1957T>A (p.Ser653Thr) c.1954T>A (p.Ser652Thr) c.265T>A (p.Ser89Thr) | |
| 1 | g.99881295T>C | CA341318455 | AGL | c.2005T>C (p.Ser669Pro) n.2216T>C c.1957T>C (p.Ser653Pro) c.1954T>C (p.Ser652Pro) c.265T>C (p.Ser89Pro) | |
| 1 | g.99881295T>G | CA341318460 | AGL | c.2005T>G (p.Ser669Ala) n.2216T>G c.1957T>G (p.Ser653Ala) c.1954T>G (p.Ser652Ala) c.265T>G (p.Ser89Ala) | dbSNP gnomAD v4 |
| 1 | g.99881295T= | CA1183929269 | AGL | c.2005T= (p.Ser669=) n.2216T= c.1957T= (p.Ser653=) c.1954T= (p.Ser652=) c.265T= (p.Ser89=) | |
| 1 | g.99881296C>A | CA341318466 | AGL | c.2006C>A (p.Ser669Ter) n.2217C>A c.1958C>A (p.Ser653Ter) c.1955C>A (p.Ser652Ter) c.266C>A (p.Ser89Ter) | |
| 1 | g.99881296C>G | CA341318469 | AGL | c.2006C>G (p.Ser669Ter) n.2217C>G c.1958C>G (p.Ser653Ter) c.1955C>G (p.Ser652Ter) c.266C>G (p.Ser89Ter) | |
| 1 | g.99881296C>T | CA341318464 | AGL | c.2006C>T (p.Ser669Leu) n.2217C>T c.1958C>T (p.Ser653Leu) c.1955C>T (p.Ser652Leu) c.266C>T (p.Ser89Leu) | COSMIC COSMIC |
| 1 | g.99881297A>C | CA419314333 | AGL | c.2007A>C (p.Ser669=) n.2218A>C c.1959A>C (p.Ser653=) c.1956A>C (p.Ser652=) c.267A>C (p.Ser89=) | |
| 1 | g.99881297A>G | CA419314334 | AGL | c.2007A>G (p.Ser669=) n.2218A>G c.1959A>G (p.Ser653=) c.1956A>G (p.Ser652=) c.267A>G (p.Ser89=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.99881297A>T | CA419314335 | AGL | c.2007A>T (p.Ser669=) n.2218A>T c.1959A>T (p.Ser653=) c.1956A>T (p.Ser652=) c.267A>T (p.Ser89=) | |
| 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.99881298G>A | CA341318473 | AGL | c.2008G>A (p.Val670Met) n.2219G>A c.1960G>A (p.Val654Met) c.1957G>A (p.Val653Met) c.268G>A (p.Val90Met) | |
| 1 | g.99881298G>C | CA966676 | AGL | c.2008G>C (p.Val670Leu) n.2219G>C c.1960G>C (p.Val654Leu) c.1957G>C (p.Val653Leu) c.268G>C (p.Val90Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.99881298G= | CA1183929270 | AGL | c.2008G= (p.Val670=) n.2219G= c.1960G= (p.Val654=) c.1957G= (p.Val653=) c.268G= (p.Val90=) | |
| 1 | g.99881298G>T | CA341318480 | AGL | c.2008G>T (p.Val670Leu) n.2219G>T c.1960G>T (p.Val654Leu) c.1957G>T (p.Val653Leu) c.268G>T (p.Val90Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.99881299T>A | CA341318486 | AGL | c.2009T>A (p.Val670Glu) n.2220T>A c.1961T>A (p.Val654Glu) c.1958T>A (p.Val653Glu) c.269T>A (p.Val90Glu) | |
| 1 | g.99881299T>C | CA341318489 | AGL | c.2009T>C (p.Val670Ala) n.2220T>C c.1961T>C (p.Val654Ala) c.1958T>C (p.Val653Ala) c.269T>C (p.Val90Ala) | dbSNP gnomAD v4 |
| 1 | g.99881299T>G | CA341318490 | AGL | c.2009T>G (p.Val670Gly) n.2220T>G c.1961T>G (p.Val654Gly) c.1958T>G (p.Val653Gly) c.269T>G (p.Val90Gly) | |
| 1 | g.99881299T= | CA1183929271 | AGL | c.2009T= (p.Val670=) n.2220T= c.1961T= (p.Val654=) c.1958T= (p.Val653=) c.269T= (p.Val90=) | |
| 1 | g.99881300G>A | CA419314338 | AGL | c.2010G>A (p.Val670=) n.2221G>A c.1962G>A (p.Val654=) c.1959G>A (p.Val653=) c.270G>A (p.Val90=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.99881300G>C | CA419314339 | AGL | c.2010G>C (p.Val670=) n.2221G>C c.1962G>C (p.Val654=) c.1959G>C (p.Val653=) c.270G>C (p.Val90=) | |
| 1 | g.99881300G= | CA1183929273 | AGL | c.2010G= (p.Val670=) n.2221G= c.1962G= (p.Val654=) c.1959G= (p.Val653=) c.270G= (p.Val90=) | |
| 1 | g.99881300G>T | CA419314341 | AGL | c.2010G>T (p.Val670=) n.2221G>T c.1962G>T (p.Val654=) c.1959G>T (p.Val653=) c.270G>T (p.Val90=) | |
| 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) | |
| 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=) |