| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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=) | |
| 1 | g.99881405C>A | CA419314408 | AGL | c.2115C>A (p.Ile705=) n.2326C>A c.2067C>A (p.Ile689=) c.2064C>A (p.Ile688=) c.375C>A (p.Ile125=) | COSMIC COSMIC |
| 1 | g.99881405C>G | CA341319228 | AGL | c.2115C>G (p.Ile705Met) n.2326C>G c.2067C>G (p.Ile689Met) c.2064C>G (p.Ile688Met) c.375C>G (p.Ile125Met) | |
| 1 | g.99881405C>T | CA419314409 | AGL | c.2115C>T (p.Ile705=) n.2326C>T c.2067C>T (p.Ile689=) c.2064C>T (p.Ile688=) c.375C>T (p.Ile125=) | gnomAD v4 |
| 1 | g.99881406A= | CA1183929315 | AGL | c.2116A= (p.Ser706=) n.2327A= c.2068A= (p.Ser690=) c.2065A= (p.Ser689=) c.376A= (p.Ser126=) | |
| 1 | g.99881406A>C | CA341319230 | AGL | c.2116A>C (p.Ser706Arg) n.2327A>C c.2068A>C (p.Ser690Arg) c.2065A>C (p.Ser689Arg) c.376A>C (p.Ser126Arg) | |
| 1 | g.99881406A>G | CA341319234 | AGL | c.2116A>G (p.Ser706Gly) n.2327A>G c.2068A>G (p.Ser690Gly) c.2065A>G (p.Ser689Gly) c.376A>G (p.Ser126Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.99881406A>T | CA341319236 | AGL | c.2116A>T (p.Ser706Cys) n.2327A>T c.2068A>T (p.Ser690Cys) c.2065A>T (p.Ser689Cys) c.376A>T (p.Ser126Cys) | |
| 1 | g.99881407G>A | CA341319239 | AGL | c.2117G>A (p.Ser706Asn) n.2328G>A c.2069G>A (p.Ser690Asn) c.2066G>A (p.Ser689Asn) c.377G>A (p.Ser126Asn) | dbSNP |
| 1 | g.99881407G>C | CA341319241 | AGL | c.2117G>C (p.Ser706Thr) n.2328G>C c.2069G>C (p.Ser690Thr) c.2066G>C (p.Ser689Thr) c.377G>C (p.Ser126Thr) | gnomAD v4 |
| 1 | g.99881407G>T | CA341319244 | AGL | c.2117G>T (p.Ser706Ile) n.2328G>T c.2069G>T (p.Ser690Ile) c.2066G>T (p.Ser689Ile) c.377G>T (p.Ser126Ile) | |
| 1 | g.99881408T>A | CA341319247 | AGL | c.2118T>A (p.Ser706Arg) n.2329T>A c.2070T>A (p.Ser690Arg) c.2067T>A (p.Ser689Arg) c.378T>A (p.Ser126Arg) | |
| 1 | g.99881408T>C | CA419314410 | AGL | c.2118T>C (p.Ser706=) n.2329T>C c.2070T>C (p.Ser690=) c.2067T>C (p.Ser689=) c.378T>C (p.Ser126=) | |
| 1 | g.99881408T>G | CA341319248 | AGL | c.2118T>G (p.Ser706Arg) n.2329T>G c.2070T>G (p.Ser690Arg) c.2067T>G (p.Ser689Arg) c.378T>G (p.Ser126Arg) | |
| 1 | g.99881408_99881410del | CA913046874 | AGL | c.2118_2120del (p.Ser706_Lys707delinsArg) n.2329_2331del c.2070_2072del (p.Ser690_Lys691delinsArg) c.2067_2069del (p.Ser689_Lys690delinsArg) c.378_380del (p.Ser126_Lys127delinsArg) | |
| 1 | g.99881408_99881410delinsTAA | CA1183929316 | AGL | c.2118_2120delinsTAA (p.Ser706=) n.2329_2331delinsTAA c.2070_2072delinsTAA (p.Ser690=) c.2067_2069delinsTAA (p.Ser689=) c.378_380delinsTAA (p.Ser126=) | |
| 1 | g.99881409A>C | CA341319260 | AGL | c.2119A>C (p.Lys707Gln) n.2330A>C c.2071A>C (p.Lys691Gln) c.2068A>C (p.Lys690Gln) c.379A>C (p.Lys127Gln) | |
| 1 | g.99881409A>G | CA341319253 | AGL | c.2119A>G (p.Lys707Glu) n.2330A>G c.2071A>G (p.Lys691Glu) c.2068A>G (p.Lys690Glu) c.379A>G (p.Lys127Glu) | |
| 1 | g.99881409A>T | CA341319254 | AGL | c.2119A>T (p.Lys707Ter) n.2330A>T c.2071A>T (p.Lys691Ter) c.2068A>T (p.Lys690Ter) c.379A>T (p.Lys127Ter) | |
| 1 | g.99881410_99881411del | CA658821106 | AGL | c.2120_2121del (p.Lys707ThrfsTer19) n.2331_2332del c.2072_2073del (p.Lys691ThrfsTer19) c.2069_2070del (p.Lys690ThrfsTer19) c.380_381del (p.Lys127ThrfsTer19) | ClinVar dbSNP |
| 1 | g.99881410A>C | CA341319264 | AGL | c.2120A>C (p.Lys707Thr) n.2331A>C c.2072A>C (p.Lys691Thr) c.2069A>C (p.Lys690Thr) c.380A>C (p.Lys127Thr) | |
| 1 | g.99881410A>G | CA341319266 | AGL | c.2120A>G (p.Lys707Arg) n.2331A>G c.2072A>G (p.Lys691Arg) c.2069A>G (p.Lys690Arg) c.380A>G (p.Lys127Arg) | |
| 1 | g.99881410A>T | CA341319268 | AGL | c.2120A>T (p.Lys707Ile) n.2331A>T c.2072A>T (p.Lys691Ile) c.2069A>T (p.Lys690Ile) c.380A>T (p.Lys127Ile) | |
| 1 | g.99881411A>C | CA341319270 | AGL | c.2121A>C (p.Lys707Asn) n.2332A>C c.2073A>C (p.Lys691Asn) c.2070A>C (p.Lys690Asn) c.381A>C (p.Lys127Asn) | |
| 1 | g.99881411A>G | CA419314411 | AGL | c.2121A>G (p.Lys707=) n.2332A>G c.2073A>G (p.Lys691=) c.2070A>G (p.Lys690=) c.381A>G (p.Lys127=) | ClinVar |
| 1 | g.99881411A>T | CA341319273 | AGL | c.2121A>T (p.Lys707Asn) n.2332A>T c.2073A>T (p.Lys691Asn) c.2070A>T (p.Lys690Asn) c.381A>T (p.Lys127Asn) | |
| 1 | g.99881412C>A | CA341319276 | AGL | c.2122C>A (p.Leu708Ile) n.2333C>A c.2074C>A (p.Leu692Ile) c.2071C>A (p.Leu691Ile) c.382C>A (p.Leu128Ile) | |
| 1 | g.99881412C>G | CA341319278 | AGL | c.2122C>G (p.Leu708Val) n.2333C>G c.2074C>G (p.Leu692Val) c.2071C>G (p.Leu691Val) c.382C>G (p.Leu128Val) | |
| 1 | g.99881412C>T | CA341319280 | AGL | c.2122C>T (p.Leu708Phe) n.2333C>T c.2074C>T (p.Leu692Phe) c.2071C>T (p.Leu691Phe) c.382C>T (p.Leu128Phe) | gnomAD v4 |
| 1 | g.99881413T>A | CA341319283 | AGL | c.2123T>A (p.Leu708His) n.2334T>A c.2075T>A (p.Leu692His) c.2072T>A (p.Leu691His) c.383T>A (p.Leu128His) | |
| 1 | g.99881413T>C | CA341319284 | AGL | c.2123T>C (p.Leu708Pro) n.2334T>C c.2075T>C (p.Leu692Pro) c.2072T>C (p.Leu691Pro) c.383T>C (p.Leu128Pro) | |
| 1 | g.99881413T>G | CA341319285 | AGL | c.2123T>G (p.Leu708Arg) n.2334T>G c.2075T>G (p.Leu692Arg) c.2072T>G (p.Leu691Arg) c.383T>G (p.Leu128Arg) | |
| 1 | g.99881413_99881414insA | CA2580063407 | AGL | c.2123_2124insA (p.His709SerfsTer18) n.2334_2335insA c.2075_2076insA (p.His693SerfsTer18) c.2072_2073insA (p.His692SerfsTer18) c.383_384insA (p.His129SerfsTer18) | ClinVar |
| 1 | g.99881413_99881414insG | CA2646736365 | AGL | c.2123_2124insG (p.His709SerfsTer18) n.2334_2335insG c.2075_2076insG (p.His693SerfsTer18) c.2072_2073insG (p.His692SerfsTer18) c.383_384insG (p.His129SerfsTer18) | gnomAD v4 |
| 1 | g.99881414T>A | CA419314414 | AGL | c.2124T>A (p.Leu708=) n.2335T>A c.2076T>A (p.Leu692=) c.2073T>A (p.Leu691=) c.384T>A (p.Leu128=) | |
| 1 | g.99881414T>C | CA419314413 | AGL | c.2124T>C (p.Leu708=) n.2335T>C c.2076T>C (p.Leu692=) c.2073T>C (p.Leu691=) c.384T>C (p.Leu128=) | |
| 1 | g.99881414T>G | CA419314412 | AGL | c.2124T>G (p.Leu708=) n.2335T>G c.2076T>G (p.Leu692=) c.2073T>G (p.Leu691=) c.384T>G (p.Leu128=) | |
| 1 | g.99881417_99881419del | CA2646736367 | AGL | c.2127_2129del (p.His709del) n.2338_2340del c.2079_2081del (p.His693del) c.2076_2078del (p.His692del) c.387_389del (p.His129del) | gnomAD v4 |
| 1 | g.99881415del | CA2646736372 | AGL | c.2125del (p.His709IlefsTer21) n.2336del c.2077del (p.His693IlefsTer21) c.2074del (p.His692IlefsTer21) c.385del (p.His129IlefsTer21) | gnomAD v4 |
| 1 | g.99881415C>A | CA341319287 | AGL | c.2125C>A (p.His709Asn) n.2336C>A c.2077C>A (p.His693Asn) c.2074C>A (p.His692Asn) c.385C>A (p.His129Asn) | |
| 1 | g.99881415C= | CA1183929317 | AGL | c.2125C= (p.His709=) n.2336C= c.2077C= (p.His693=) c.2074C= (p.His692=) c.385C= (p.His129=) | |
| 1 | g.99881415C>G | CA341319289 | AGL | c.2125C>G (p.His709Asp) n.2336C>G c.2077C>G (p.His693Asp) c.2074C>G (p.His692Asp) c.385C>G (p.His129Asp) | |
| 1 | g.99881415C>T | CA341319286 | AGL | c.2125C>T (p.His709Tyr) n.2336C>T c.2077C>T (p.His693Tyr) c.2074C>T (p.His692Tyr) c.385C>T (p.His129Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99881416A= | CA1183929318 | AGL | c.2126A= (p.His709=) n.2337A= c.2078A= (p.His693=) c.2075A= (p.His692=) c.386A= (p.His129=) | |
| 1 | g.99881416A>C | CA341319292 | AGL | c.2126A>C (p.His709Pro) n.2337A>C c.2078A>C (p.His693Pro) c.2075A>C (p.His692Pro) c.386A>C (p.His129Pro) | gnomAD v4 |
| 1 | g.99881416A>G | CA341319293 | AGL | c.2126A>G (p.His709Arg) n.2337A>G c.2078A>G (p.His693Arg) c.2075A>G (p.His692Arg) c.386A>G (p.His129Arg) | dbSNP gnomAD v2 |
| 1 | g.99881416A>T | CA341319294 | AGL | c.2126A>T (p.His709Leu) n.2337A>T c.2078A>T (p.His693Leu) c.2075A>T (p.His692Leu) c.386A>T (p.His129Leu) | gnomAD v4 |
| 1 | g.99881417T>A | CA341319303 | AGL | c.2127T>A (p.His709Gln) n.2338T>A c.2079T>A (p.His693Gln) c.2076T>A (p.His692Gln) c.387T>A (p.His129Gln) | |
| 1 | g.99881417T>C | CA419314415 | AGL | c.2127T>C (p.His709=) n.2338T>C c.2079T>C (p.His693=) c.2076T>C (p.His692=) c.387T>C (p.His129=) | |
| 1 | g.99881417T>G | CA341319305 | AGL | c.2127T>G (p.His709Gln) n.2338T>G c.2079T>G (p.His693Gln) c.2076T>G (p.His692Gln) c.387T>G (p.His129Gln) | |
| 1 | g.99881418C>A | CA341319311 | AGL | c.2128C>A (p.Gln710Lys) n.2339C>A c.2080C>A (p.Gln694Lys) c.2077C>A (p.Gln693Lys) c.388C>A (p.Gln130Lys) | |
| 1 | g.99881418C= | CA1183929319 | AGL | c.2128C= (p.Gln710=) n.2339C= c.2080C= (p.Gln694=) c.2077C= (p.Gln693=) c.388C= (p.Gln130=) | |
| 1 | g.99881418C>G | CA341319312 | AGL | c.2128C>G (p.Gln710Glu) n.2339C>G c.2080C>G (p.Gln694Glu) c.2077C>G (p.Gln693Glu) c.388C>G (p.Gln130Glu) | dbSNP gnomAD v4 |
| 1 | g.99881418C>T | CA341319317 | AGL | c.2128C>T (p.Gln710Ter) n.2339C>T c.2080C>T (p.Gln694Ter) c.2077C>T (p.Gln693Ter) c.388C>T (p.Gln130Ter) | COSMIC |
| 1 | g.99881419A>C | CA341319320 | AGL | c.2129A>C (p.Gln710Pro) n.2340A>C c.2081A>C (p.Gln694Pro) c.2078A>C (p.Gln693Pro) c.389A>C (p.Gln130Pro) | |
| 1 | g.99881419A>G | CA341319321 | AGL | c.2129A>G (p.Gln710Arg) n.2340A>G c.2081A>G (p.Gln694Arg) c.2078A>G (p.Gln693Arg) c.389A>G (p.Gln130Arg) | |
| 1 | g.99881419A>T | CA341319324 | AGL | c.2129A>T (p.Gln710Leu) n.2340A>T c.2081A>T (p.Gln694Leu) c.2078A>T (p.Gln693Leu) c.389A>T (p.Gln130Leu) | |
| 1 | g.99881420G>A | CA419314416 | AGL | c.2130G>A (p.Gln710=) n.2341G>A c.2082G>A (p.Gln694=) c.2079G>A (p.Gln693=) c.390G>A (p.Gln130=) | |
| 1 | g.99881420G>C | CA341319337 | AGL | c.2130G>C (p.Gln710His) n.2341G>C c.2082G>C (p.Gln694His) c.2079G>C (p.Gln693His) c.390G>C (p.Gln130His) | |
| 1 | g.99881420G>T | CA341319346 | AGL | c.2130G>T (p.Gln710His) n.2341G>T c.2082G>T (p.Gln694His) c.2079G>T (p.Gln693His) c.390G>T (p.Gln130His) | |
| 1 | g.99881421G>A | CA341319351 | AGL | c.2131G>A (p.Glu711Lys) n.2342G>A c.2083G>A (p.Glu695Lys) c.2080G>A (p.Glu694Lys) c.391G>A (p.Glu131Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.99881421G>C | CA341319350 | AGL | c.2131G>C (p.Glu711Gln) n.2342G>C c.2083G>C (p.Glu695Gln) c.2080G>C (p.Glu694Gln) c.391G>C (p.Glu131Gln) | |
| 1 | g.99881421G= | CA1183929320 | AGL | c.2131G= (p.Glu711=) n.2342G= c.2083G= (p.Glu695=) c.2080G= (p.Glu694=) c.391G= (p.Glu131=) | |
| 1 | g.99881421G>T | CA341319349 | AGL | c.2131G>T (p.Glu711Ter) n.2342G>T c.2083G>T (p.Glu695Ter) c.2080G>T (p.Glu694Ter) c.391G>T (p.Glu131Ter) | |
| 1 | g.99881422A>C | CA341319352 | AGL | c.2132A>C (p.Glu711Ala) n.2343A>C c.2084A>C (p.Glu695Ala) c.2081A>C (p.Glu694Ala) c.392A>C (p.Glu131Ala) | |
| 1 | g.99881422A>G | CA341319354 | AGL | c.2132A>G (p.Glu711Gly) n.2343A>G c.2084A>G (p.Glu695Gly) c.2081A>G (p.Glu694Gly) c.392A>G (p.Glu131Gly) | |
| 1 | g.99881422A>T | CA341319357 | AGL | c.2132A>T (p.Glu711Val) n.2343A>T c.2084A>T (p.Glu695Val) c.2081A>T (p.Glu694Val) c.392A>T (p.Glu131Val) | |
| 1 | g.99881423G>A | CA419314417 | AGL | c.2133G>A (p.Glu711=) n.2344G>A c.2085G>A (p.Glu695=) c.2082G>A (p.Glu694=) c.393G>A (p.Glu131=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.99881423G>C | CA341319360 | AGL | c.2133G>C (p.Glu711Asp) n.2344G>C c.2085G>C (p.Glu695Asp) c.2082G>C (p.Glu694Asp) c.393G>C (p.Glu131Asp) | |
| 1 | g.99881423G= | CA1183929321 | AGL | c.2133G= (p.Glu711=) n.2344G= c.2085G= (p.Glu695=) c.2082G= (p.Glu694=) c.393G= (p.Glu131=) | |
| 1 | g.99881423G>T | CA341319369 | AGL | c.2133G>T (p.Glu711Asp) n.2344G>T c.2085G>T (p.Glu695Asp) c.2082G>T (p.Glu694Asp) c.393G>T (p.Glu131Asp) | |
| 1 | g.99881424C>A | CA341319375 | AGL | c.2134C>A (p.Leu712Ile) n.2345C>A c.2086C>A (p.Leu696Ile) c.2083C>A (p.Leu695Ile) c.394C>A (p.Leu132Ile) | |
| 1 | g.99881424C>G | CA341319376 | AGL | c.2134C>G (p.Leu712Val) n.2345C>G c.2086C>G (p.Leu696Val) c.2083C>G (p.Leu695Val) c.394C>G (p.Leu132Val) | gnomAD v4 |
| 1 | g.99881424C>T | CA341319377 | AGL | c.2134C>T (p.Leu712Phe) n.2345C>T c.2086C>T (p.Leu696Phe) c.2083C>T (p.Leu695Phe) c.394C>T (p.Leu132Phe) | |
| 1 | g.99881425T>A | CA341319380 | AGL | c.2135T>A (p.Leu712His) n.2346T>A c.2087T>A (p.Leu696His) c.2084T>A (p.Leu695His) c.395T>A (p.Leu132His) | |
| 1 | g.99881425T>C | CA341319383 | AGL | c.2135T>C (p.Leu712Pro) n.2346T>C c.2087T>C (p.Leu696Pro) c.2084T>C (p.Leu695Pro) c.395T>C (p.Leu132Pro) | ClinVar dbSNP |
| 1 | g.99881425T>G | CA341319384 | AGL | c.2135T>G (p.Leu712Arg) n.2346T>G c.2087T>G (p.Leu696Arg) c.2084T>G (p.Leu695Arg) c.395T>G (p.Leu132Arg) | |
| 1 | g.99881426T>A | CA419314418 | AGL | c.2136T>A (p.Leu712=) n.2347T>A c.2088T>A (p.Leu696=) c.2085T>A (p.Leu695=) c.396T>A (p.Leu132=) | |
| 1 | g.99881426T>C | CA419314419 | AGL | c.2136T>C (p.Leu712=) n.2347T>C c.2088T>C (p.Leu696=) c.2085T>C (p.Leu695=) c.396T>C (p.Leu132=) | gnomAD v4 |
| 1 | g.99881426T>G | CA419314420 | AGL | c.2136T>G (p.Leu712=) n.2347T>G c.2088T>G (p.Leu696=) c.2085T>G (p.Leu695=) c.396T>G (p.Leu132=) | |
| 1 | g.99881427G>A | CA966696 | AGL | c.2137G>A (p.Gly713Arg) n.2348G>A c.2089G>A (p.Gly697Arg) c.2086G>A (p.Gly696Arg) c.397G>A (p.Gly133Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.99881427G>C | CA341319388 | AGL | c.2137G>C (p.Gly713Arg) n.2348G>C c.2089G>C (p.Gly697Arg) c.2086G>C (p.Gly696Arg) c.397G>C (p.Gly133Arg) | |
| 1 | g.99881427G= | CA1183929322 | AGL | c.2137G= (p.Gly713=) n.2348G= c.2089G= (p.Gly697=) c.2086G= (p.Gly696=) c.397G= (p.Gly133=) | |
| 1 | g.99881427G>T | CA341319392 | AGL | c.2137G>T (p.Gly713Ter) n.2348G>T c.2089G>T (p.Gly697Ter) c.2086G>T (p.Gly696Ter) c.397G>T (p.Gly133Ter) | |
| 1 | g.99881428G>A | CA341319398 | AGL | c.2138G>A (p.Gly713Glu) n.2349G>A c.2090G>A (p.Gly697Glu) c.2087G>A (p.Gly696Glu) c.398G>A (p.Gly133Glu) | |
| 1 | g.99881428G>C | CA341319401 | AGL | c.2138G>C (p.Gly713Ala) n.2349G>C c.2090G>C (p.Gly697Ala) c.2087G>C (p.Gly696Ala) c.398G>C (p.Gly133Ala) | |
| 1 | g.99881428G>T | CA341319396 | AGL | c.2138G>T (p.Gly713Val) n.2349G>T c.2090G>T (p.Gly697Val) c.2087G>T (p.Gly696Val) c.398G>T (p.Gly133Val) | |
| 1 | g.99881429A>C | CA419314421 | AGL | c.2139A>C (p.Gly713=) n.2350A>C c.2091A>C (p.Gly697=) c.2088A>C (p.Gly696=) c.399A>C (p.Gly133=) | gnomAD v4 |
| 1 | g.99881429A>G | CA419314422 | AGL | c.2139A>G (p.Gly713=) n.2350A>G c.2091A>G (p.Gly697=) c.2088A>G (p.Gly696=) c.399A>G (p.Gly133=) | gnomAD v4 |
| 1 | g.99881429A>T | CA419314423 | AGL | c.2139A>T (p.Gly713=) n.2350A>T c.2091A>T (p.Gly697=) c.2088A>T (p.Gly696=) c.399A>T (p.Gly133=) | |
| 1 | g.99881430G>A | CA341319404 | AGL | c.2140G>A (p.Ala714Thr) n.2351G>A c.2092G>A (p.Ala698Thr) c.2089G>A (p.Ala697Thr) c.400G>A (p.Ala134Thr) | |
| 1 | g.99881430G>C | CA341319408 | AGL | c.2140G>C (p.Ala714Pro) n.2351G>C c.2092G>C (p.Ala698Pro) c.2089G>C (p.Ala697Pro) c.400G>C (p.Ala134Pro) | |
| 1 | g.99881430G>T | CA341319411 | AGL | c.2140G>T (p.Ala714Ser) n.2351G>T c.2092G>T (p.Ala698Ser) c.2089G>T (p.Ala697Ser) c.400G>T (p.Ala134Ser) | |
| 1 | g.99881431C>A | CA341319414 | AGL | c.2141C>A (p.Ala714Asp) n.2352C>A c.2093C>A (p.Ala698Asp) c.2090C>A (p.Ala697Asp) c.401C>A (p.Ala134Asp) | |
| 1 | g.99881431C>G | CA341319416 | AGL | c.2141C>G (p.Ala714Gly) n.2352C>G c.2093C>G (p.Ala698Gly) c.2090C>G (p.Ala697Gly) c.401C>G (p.Ala134Gly) | |
| 1 | g.99881431C>T | CA341319419 | AGL | c.2141C>T (p.Ala714Val) n.2352C>T c.2093C>T (p.Ala698Val) c.2090C>T (p.Ala697Val) c.401C>T (p.Ala134Val) | gnomAD v4 |
| 1 | g.99881432C>A | CA419314424 | AGL | c.2142C>A (p.Ala714=) n.2353C>A c.2094C>A (p.Ala698=) c.2091C>A (p.Ala697=) c.402C>A (p.Ala134=) | |
| 1 | g.99881432C= | CA1183929324 | AGL | c.2142C= (p.Ala714=) n.2353C= c.2094C= (p.Ala698=) c.2091C= (p.Ala697=) c.402C= (p.Ala134=) | |
| 1 | g.99881432C>G | CA419314426 | AGL | c.2142C>G (p.Ala714=) n.2353C>G c.2094C>G (p.Ala698=) c.2091C>G (p.Ala697=) c.402C>G (p.Ala134=) | |
| 1 | g.99881432C>T | CA419314425 | AGL | c.2142C>T (p.Ala714=) n.2353C>T c.2094C>T (p.Ala698=) c.2091C>T (p.Ala697=) c.402C>T (p.Ala134=) | dbSNP gnomAD v4 |
| 1 | g.99881432_99881433delinsCA | CA1183929323 | AGL | c.2142_2143delinsCA (p.Ala714=) n.2353_2354delinsCA c.2094_2095delinsCA (p.Ala698=) c.2091_2092delinsCA (p.Ala697=) c.402_403delinsCA (p.Ala134=) | |
| 1 | g.99881433A= | CA1183929325 | AGL | c.2143A= (p.Lys715=) n.2354A= c.2095A= (p.Lys699=) c.2092A= (p.Lys698=) c.403A= (p.Lys135=) | |
| 1 | g.99881433A>C | CA966697 | AGL | c.2143A>C (p.Lys715Gln) n.2354A>C c.2095A>C (p.Lys699Gln) c.2092A>C (p.Lys698Gln) c.403A>C (p.Lys135Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.99881433A>G | CA341319421 | AGL | c.2143A>G (p.Lys715Glu) n.2354A>G c.2095A>G (p.Lys699Glu) c.2092A>G (p.Lys698Glu) c.403A>G (p.Lys135Glu) | |
| 1 | g.99881433A>T | CA341319423 | AGL | c.2143A>T (p.Lys715Ter) n.2354A>T c.2095A>T (p.Lys699Ter) c.2092A>T (p.Lys698Ter) c.403A>T (p.Lys135Ter) | |
| 1 | g.99881434del | CA1139656250 | AGL | c.2144del (p.Lys715ArgfsTer15) n.2355del c.2096del (p.Lys699ArgfsTer15) c.2093del (p.Lys698ArgfsTer15) c.404del (p.Lys135ArgfsTer15) | ClinVar dbSNP gnomAD v4 |
| 1 | g.99881434A= | CA1183929326 | AGL | c.2144A= (p.Lys715=) n.2355A= c.2096A= (p.Lys699=) c.2093A= (p.Lys698=) c.404A= (p.Lys135=) | |
| 1 | g.99881434A>C | CA341319429 | AGL | c.2144A>C (p.Lys715Thr) n.2355A>C c.2096A>C (p.Lys699Thr) c.2093A>C (p.Lys698Thr) c.404A>C (p.Lys135Thr) | |
| 1 | g.99881434A>G | CA341319431 | AGL | c.2144A>G (p.Lys715Arg) n.2355A>G c.2096A>G (p.Lys699Arg) c.2093A>G (p.Lys698Arg) c.404A>G (p.Lys135Arg) | dbSNP gnomAD v4 |
| 1 | g.99881434A>T | CA341319434 | AGL | c.2144A>T (p.Lys715Met) n.2355A>T c.2096A>T (p.Lys699Met) c.2093A>T (p.Lys698Met) c.404A>T (p.Lys135Met) | |
| 1 | g.99881435G>A | CA419314427 | AGL | c.2145G>A (p.Lys715=) n.2356G>A c.2097G>A (p.Lys699=) c.2094G>A (p.Lys698=) c.405G>A (p.Lys135=) | ClinVar |
| 1 | g.99881435G>C | CA341319438 | AGL | c.2145G>C (p.Lys715Asn) n.2356G>C c.2097G>C (p.Lys699Asn) c.2094G>C (p.Lys698Asn) c.405G>C (p.Lys135Asn) | |
| 1 | g.99881435G>T | CA341319440 | AGL | c.2145G>T (p.Lys715Asn) n.2356G>T c.2097G>T (p.Lys699Asn) c.2094G>T (p.Lys698Asn) c.405G>T (p.Lys135Asn) | |
| 1 | g.99881437del | CA2586967093 | AGL | c.2147del (p.Gly716ValfsTer14) n.2358del c.2099del (p.Gly700ValfsTer14) c.2096del (p.Gly699ValfsTer14) c.407del (p.Gly136ValfsTer14) | |
| 1 | g.99881436G>A | CA341319447 | AGL | c.2146G>A (p.Gly716Ser) n.2357G>A c.2098G>A (p.Gly700Ser) c.2095G>A (p.Gly699Ser) c.406G>A (p.Gly136Ser) | |
| 1 | g.99881436G>C | CA341319451 | AGL | c.2146G>C (p.Gly716Arg) n.2357G>C c.2098G>C (p.Gly700Arg) c.2095G>C (p.Gly699Arg) c.406G>C (p.Gly136Arg) | gnomAD v4 |
| 1 | g.99881436G>T | CA341319449 | AGL | c.2146G>T (p.Gly716Cys) n.2357G>T c.2098G>T (p.Gly700Cys) c.2095G>T (p.Gly699Cys) c.406G>T (p.Gly136Cys) | |
| 1 | g.99881437G>A | CA966698 | AGL | c.2147G>A (p.Gly716Asp) n.2358G>A c.2099G>A (p.Gly700Asp) c.2096G>A (p.Gly699Asp) c.407G>A (p.Gly136Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.99881437G>C | CA341319456 | AGL | c.2147G>C (p.Gly716Ala) n.2358G>C c.2099G>C (p.Gly700Ala) c.2096G>C (p.Gly699Ala) c.407G>C (p.Gly136Ala) | |
| 1 | g.99881437G= | CA1183929327 | AGL | c.2147G= (p.Gly716=) n.2358G= c.2099G= (p.Gly700=) c.2096G= (p.Gly699=) c.407G= (p.Gly136=) | |
| 1 | g.99881437G>T | CA341319458 | AGL | c.2147G>T (p.Gly716Val) n.2358G>T c.2099G>T (p.Gly700Val) c.2096G>T (p.Gly699Val) c.407G>T (p.Gly136Val) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.99881438T>A | CA419314428 | AGL | c.2148T>A (p.Gly716=) n.2359T>A c.2100T>A (p.Gly700=) c.2097T>A (p.Gly699=) c.408T>A (p.Gly136=) | |
| 1 | g.99881438T>C | CA419314429 | AGL | c.2148T>C (p.Gly716=) n.2359T>C c.2100T>C (p.Gly700=) c.2097T>C (p.Gly699=) c.408T>C (p.Gly136=) | |
| 1 | g.99881438T>G | CA419314430 | AGL | c.2148T>G (p.Gly716=) n.2359T>G c.2100T>G (p.Gly700=) c.2097T>G (p.Gly699=) c.408T>G (p.Gly136=) | |
| 1 | g.99881441del | CA2554939933 | AGL | c.2151del (p.Phe717LeufsTer13) n.2362del c.2103del (p.Phe701LeufsTer13) c.2100del (p.Phe700LeufsTer13) c.411del (p.Phe137LeufsTer13) | ClinVar |
| 1 | g.99881439T>A | CA341319462 | AGL | c.2149T>A (p.Phe717Ile) n.2360T>A c.2101T>A (p.Phe701Ile) c.2098T>A (p.Phe700Ile) c.409T>A (p.Phe137Ile) | |
| 1 | g.99881439T>C | CA341319465 | AGL | c.2149T>C (p.Phe717Leu) n.2360T>C c.2101T>C (p.Phe701Leu) c.2098T>C (p.Phe700Leu) c.409T>C (p.Phe137Leu) | ClinVar gnomAD v4 |
| 1 | g.99881439T>G | CA341319466 | AGL | c.2149T>G (p.Phe717Val) n.2360T>G c.2101T>G (p.Phe701Val) c.2098T>G (p.Phe700Val) c.409T>G (p.Phe137Val) | |
| 1 | g.99881440T>A | CA341319470 | AGL | c.2150T>A (p.Phe717Tyr) n.2361T>A c.2102T>A (p.Phe701Tyr) c.2099T>A (p.Phe700Tyr) c.410T>A (p.Phe137Tyr) | COSMIC |
| 1 | g.99881440T>C | CA341319473 | AGL | c.2150T>C (p.Phe717Ser) n.2361T>C c.2102T>C (p.Phe701Ser) c.2099T>C (p.Phe700Ser) c.410T>C (p.Phe137Ser) | |
| 1 | g.99881440T>G | CA341319475 | AGL | c.2150T>G (p.Phe717Cys) n.2361T>G c.2102T>G (p.Phe701Cys) c.2099T>G (p.Phe700Cys) c.410T>G (p.Phe137Cys) | |
| 1 | g.99881441T>A | CA341319479 | AGL | c.2151T>A (p.Phe717Leu) n.2362T>A c.2103T>A (p.Phe701Leu) c.2100T>A (p.Phe700Leu) c.411T>A (p.Phe137Leu) | |
| 1 | g.99881441T>C | CA419314431 | AGL | c.2151T>C (p.Phe717=) n.2362T>C c.2103T>C (p.Phe701=) c.2100T>C (p.Phe700=) c.411T>C (p.Phe137=) | |
| 1 | g.99881441T>G | CA341319481 | AGL | c.2151T>G (p.Phe717Leu) n.2362T>G c.2103T>G (p.Phe701Leu) c.2100T>G (p.Phe700Leu) c.411T>G (p.Phe137Leu) | |
| 1 | g.99881442A= | CA1183929328 | AGL | c.2152A= (p.Ile718=) n.2363A= c.2104A= (p.Ile702=) c.2101A= (p.Ile701=) c.412A= (p.Ile138=) | |
| 1 | g.99881442A>C | CA341319486 | AGL | c.2152A>C (p.Ile718Leu) n.2363A>C c.2104A>C (p.Ile702Leu) c.2101A>C (p.Ile701Leu) c.412A>C (p.Ile138Leu) | |
| 1 | g.99881442A>G | CA341319488 | AGL | c.2152A>G (p.Ile718Val) n.2363A>G c.2104A>G (p.Ile702Val) c.2101A>G (p.Ile701Val) c.412A>G (p.Ile138Val) | |
| 1 | g.99881442A>T | CA341319484 | AGL | c.2152A>T (p.Ile718Phe) n.2363A>T c.2104A>T (p.Ile702Phe) c.2101A>T (p.Ile701Phe) c.412A>T (p.Ile138Phe) | dbSNP gnomAD v2 |
| 1 | g.99881443T>A | CA341319497 | AGL | c.2153T>A (p.Ile718Asn) n.2364T>A c.2105T>A (p.Ile702Asn) c.2102T>A (p.Ile701Asn) c.413T>A (p.Ile138Asn) | |
| 1 | g.99881443T>C | CA341319492 | AGL | c.2153T>C (p.Ile718Thr) n.2364T>C c.2105T>C (p.Ile702Thr) c.2102T>C (p.Ile701Thr) c.413T>C (p.Ile138Thr) | |
| 1 | g.99881443T>G | CA341319498 | AGL | c.2153T>G (p.Ile718Ser) n.2364T>G c.2105T>G (p.Ile702Ser) c.2102T>G (p.Ile701Ser) c.413T>G (p.Ile138Ser) | |
| 1 | g.99881444T>A | CA419314432 | AGL | c.2154T>A (p.Ile718=) n.2365T>A c.2106T>A (p.Ile702=) c.2103T>A (p.Ile701=) c.414T>A (p.Ile138=) | |
| 1 | g.99881444T>C | CA419314433 | AGL | c.2154T>C (p.Ile718=) n.2365T>C c.2106T>C (p.Ile702=) c.2103T>C (p.Ile701=) c.414T>C (p.Ile138=) | |
| 1 | g.99881444T>G | CA341319501 | AGL | c.2154T>G (p.Ile718Met) n.2365T>G c.2106T>G (p.Ile702Met) c.2103T>G (p.Ile701Met) c.414T>G (p.Ile138Met) |